Full data view for gene SORT1

Information The variants shown are described using the NM_002959.5 transcript reference sequence.

136 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.69_71del r.(?) p.(Leu24del) g.109940444_109940446del Copied from the Exome Variant Server SORT1_000135 6/2794 4/1888 2/906 - - - - - - -
?/? c.306+22_306+23insG r.(=) p.(=) g.109940186_109940187insC Copied from the Exome Variant Server SORT1_000134 57/2124 41/1586 16/538 - - - - - - -
?/? c.307-11del r.(=) p.(=) g.109912222del Copied from the Exome Variant Server SORT1_000133 318/12520 10/8254 308/4266 - - - - - - -
?/? c.307-11dup r.(=) p.(=) g.109912222dup Copied from the Exome Variant Server SORT1_000132 16/12520 12/8254 4/4266 - - - - - - -
?/? c.333A>G r.(=) p.(=) g.109912185T>C Copied from the Exome Variant Server SORT1_000131 7/13006 6/8600 1/4406 - - - - - - -
?/? c.367-60_367-51del r.(=) p.(=) g.109910154_109910163del Copied from the Exome Variant Server SORT1_000130 1/12520 1/8254 0/4266 - - - - - - -
?/? c.367-23G>A r.(=) p.(=) g.109910126C>T Copied from the Exome Variant Server SORT1_000129 94/13006 7/8600 87/4406 - - - - - - -
?/? c.367-21A>T r.(=) p.(=) g.109910124T>A Copied from the Exome Variant Server SORT1_000128 89/13006 1/8600 88/4406 - - - - - - -
?/? c.367-19T>C r.(=) p.(=) g.109910122A>G Copied from the Exome Variant Server SORT1_000127 1/13006 1/8600 0/4406 - - - - - - -
?/? c.370A>G r.(?) p.(Ile124Val) g.109910100T>C Copied from the Exome Variant Server SORT1_000126 56/13006 47/8600 9/4406 - - - - - - -
?/? c.378C>G r.(=) p.(=) g.109910092G>C Copied from the Exome Variant Server SORT1_000125 2/13006 2/8600 0/4406 - - - - - - -
?/? c.440+17G>A r.(=) p.(=) g.109910013C>T Copied from the Exome Variant Server SORT1_000124 1241/13006 1130/8600 111/4406 - - - - - - -
?/? c.440+18C>T r.(=) p.(=) g.109910012G>A Copied from the Exome Variant Server SORT1_000123 6/13006 5/8600 1/4406 - - - - - - -
?/? c.440+26C>T r.(=) p.(=) g.109910004G>A Copied from the Exome Variant Server SORT1_000122 8/13006 0/8600 8/4406 - - - - - - -
?/? c.441-47T>C r.(=) p.(=) g.109898138A>G Copied from the Exome Variant Server SORT1_000121 6/13006 0/8600 6/4406 - - - - - - -
?/? c.441-7del r.(=) p.(=) g.109898098del Copied from the Exome Variant Server SORT1_000120 1/12520 0/8254 1/4266 - - - - - - -
?/? c.543+8T>A r.(=) p.(=) g.109897981A>T Copied from the Exome Variant Server SORT1_000119 28/13006 1/8600 27/4406 - - - - - - -
?/? c.543+16G>A r.(=) p.(=) g.109897973C>T Copied from the Exome Variant Server SORT1_000118 1/13006 1/8600 0/4406 - - - - - - -
?/? c.543+18A>C r.(=) p.(=) g.109897971T>G Copied from the Exome Variant Server SORT1_000117 1/13006 1/8600 0/4406 - - - - - - -
?/? c.543+36T>G r.(=) p.(=) g.109897953A>C Copied from the Exome Variant Server SORT1_000116 3/13006 1/8600 2/4406 - - - - - - -
?/? c.544-42A>C r.(=) p.(=) g.109897195T>G Copied from the Exome Variant Server SORT1_000115 1/13006 1/8600 0/4406 - - - - - - -
?/? c.544-7C>G r.(=) p.(=) g.109897160G>C Copied from the Exome Variant Server SORT1_000114 1/13006 0/8600 1/4406 - - - - - - -
?/? c.544-5A>G r.spl? p.? g.109897158T>C Copied from the Exome Variant Server SORT1_000113 7/13006 1/8600 6/4406 - - - - - - -
?/? c.578G>A r.(?) p.(Arg193His) g.109897119C>T Copied from the Exome Variant Server SORT1_000112 11/13006 2/8600 9/4406 - - - - - - -
?/? c.594T>C r.(=) p.(=) g.109897103A>G Copied from the Exome Variant Server SORT1_000111 9204/13006 6259/8600 2945/4406 - - - - - - -
?/? c.597A>G r.(=) p.(=) g.109897100T>C Copied from the Exome Variant Server SORT1_000110 682/13006 475/8600 207/4406 - - - - - - -
?/? c.612G>A r.(=) p.(=) g.109897085C>T Copied from the Exome Variant Server SORT1_000109 1/13006 1/8600 0/4406 - - - - - - -
?/? c.627A>G r.(=) p.(=) g.109897070T>C Copied from the Exome Variant Server SORT1_000108 1/13006 0/8600 1/4406 - - - - - - -
?/? c.632A>C r.(?) p.(Asp211Ala) g.109897065T>G Copied from the Exome Variant Server SORT1_000107 1/13006 1/8600 0/4406 - - - - - - -
?/? c.675G>T r.(?) p.(Gln225His) g.109897022C>A Copied from the Exome Variant Server SORT1_000106 2/13006 1/8600 1/4406 - - - - - - -
?/? c.708+19C>A r.(=) p.(=) g.109896970G>T Copied from the Exome Variant Server SORT1_000105 1/13006 1/8600 0/4406 - - - - - - -
?/? c.709-35G>A r.(=) p.(=) g.109893659C>T Copied from the Exome Variant Server SORT1_000104 5/13006 0/8600 5/4406 - - - - - - -
?/? c.709-12A>G r.(=) p.(=) g.109893636T>C Copied from the Exome Variant Server SORT1_000103 1/13006 1/8600 0/4406 - - - - - - -
?/? c.721G>T r.(?) p.(Val241Leu) g.109893612C>A Copied from the Exome Variant Server SORT1_000102 1/13006 0/8600 1/4406 - - - - - - -
?/? c.783-20del r.(=) p.(=) g.109890174del Copied from the Exome Variant Server SORT1_000101 1/12520 1/8254 0/4266 - - - - - - -
?/? c.832+32C>T r.(=) p.(=) g.109890073G>A Copied from the Exome Variant Server SORT1_000100 5/13006 0/8600 5/4406 - - - - - - -
?/? c.832+35G>A r.(=) p.(=) g.109890070C>T Copied from the Exome Variant Server SORT1_000099 4/13006 4/8600 0/4406 - - - - - - -
?/? c.832+46A>G r.(=) p.(=) g.109890059T>C Copied from the Exome Variant Server SORT1_000098 1/13006 1/8600 0/4406 - - - - - - -
?/? c.833-15T>C r.(=) p.(=) g.109888518A>G Copied from the Exome Variant Server SORT1_000097 2/13004 0/8600 2/4404 - - - - - - -
?/? c.885C>T r.(=) p.(=) g.109888451G>A Copied from the Exome Variant Server SORT1_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.904A>G r.(?) p.(Lys302Glu) g.109888432T>C Copied from the Exome Variant Server SORT1_000095 23/13006 22/8600 1/4406 - - - - - - -
?/? c.911A>C r.(?) p.(Tyr304Ser) g.109888425T>G Copied from the Exome Variant Server SORT1_000094 1/13006 0/8600 1/4406 - - - - - - -
?/? c.937C>G r.(?) p.(Leu313Val) g.109888399G>C Copied from the Exome Variant Server SORT1_000093 1/13006 1/8600 0/4406 - - - - - - -
?/? c.969A>C r.(=) p.(=) g.109884775T>G Copied from the Exome Variant Server SORT1_000092 8103/13006 6253/8600 1850/4406 - - - - - - -
?/? c.979A>T r.(?) p.(Ile327Phe) g.109884765T>A Copied from the Exome Variant Server SORT1_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.997C>G r.(?) p.(Gln333Glu) g.109884747G>C Copied from the Exome Variant Server SORT1_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1072G>T r.(?) p.(Asp358Tyr) g.109884672C>A Copied from the Exome Variant Server SORT1_000089 22/13006 18/8600 4/4406 - - - - - - -
?/? c.1093G>A r.(?) p.(Val365Ile) g.109884651C>T Copied from the Exome Variant Server SORT1_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1098T>C r.(=) p.(=) g.109884646A>G Copied from the Exome Variant Server SORT1_000087 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1109-15G>C r.(=) p.(=) g.109883516C>G Copied from the Exome Variant Server SORT1_000086 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1142A>G r.(?) p.(Asp381Gly) g.109883468T>C Copied from the Exome Variant Server SORT1_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1145G>A r.(?) p.(Arg382Gln) g.109883465C>T Copied from the Exome Variant Server SORT1_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1198G>A r.(?) p.(Gly400Arg) g.109883412C>T Copied from the Exome Variant Server SORT1_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1205C>T r.(?) p.(Thr402Met) g.109883405G>A Copied from the Exome Variant Server SORT1_000081 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1206G>A r.(=) p.(=) g.109883404C>T Copied from the Exome Variant Server SORT1_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1215C>T r.(=) p.(=) g.109883395G>A Copied from the Exome Variant Server SORT1_000077 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1219G>A r.(?) p.(Val407Met) g.109883391C>T Copied from the Exome Variant Server SORT1_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1260C>T r.(=) p.(=) g.109883350G>A Copied from the Exome Variant Server SORT1_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1264+9C>T r.(=) p.(=) g.109883337G>A Copied from the Exome Variant Server SORT1_000071 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1264+10G>A r.(=) p.(=) g.109883336C>T Copied from the Exome Variant Server SORT1_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1264+48G>A r.(=) p.(=) g.109883298C>T Copied from the Exome Variant Server SORT1_000067 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1265-39C>G r.(=) p.(=) g.109879007G>C Copied from the Exome Variant Server SORT1_000065 6/13006 0/8600 6/4406 - - - - - - -
?/? c.1265-37A>G r.(=) p.(=) g.109879005T>C Copied from the Exome Variant Server SORT1_000063 19/13006 17/8600 2/4406 - - - - - - -
?/? c.1265-17G>T r.(=) p.(=) g.109878985C>A Copied from the Exome Variant Server SORT1_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1313C>T r.(?) p.(Thr438Met) g.109878920G>A Copied from the Exome Variant Server SORT1_000059 4/13006 2/8600 2/4406 - - - - - - -
?/? c.1330G>C r.(?) p.(Glu444Gln) g.109878903C>G Copied from the Exome Variant Server SORT1_000057 167/13006 152/8600 15/4406 - - - - - - -
?/? c.1340A>G r.(?) p.(Glu447Gly) g.109878893T>C Copied from the Exome Variant Server SORT1_000082 13/13006 12/8600 1/4406 - - - - - - -
?/? c.1371+20T>C r.(=) p.(=) g.109878842A>G Copied from the Exome Variant Server SORT1_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1371+35C>A r.(=) p.(=) g.109878827G>T Copied from the Exome Variant Server SORT1_000078 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1371+38T>G r.(=) p.(=) g.109878824A>C Copied from the Exome Variant Server SORT1_000076 15/13006 13/8600 2/4406 - - - - - - -
?/? c.1371+43T>C r.(=) p.(=) g.109878819A>G Copied from the Exome Variant Server SORT1_000074 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1372-20G>A r.(=) p.(=) g.109870243C>T Copied from the Exome Variant Server SORT1_000072 3/13006 2/8600 1/4406 - - - - - - -
?/? c.1402A>G r.(?) p.(Ile468Val) g.109870193T>C Copied from the Exome Variant Server SORT1_000070 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1461T>C r.(=) p.(=) g.109870134A>G Copied from the Exome Variant Server SORT1_000068 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1474+9C>T r.(=) p.(=) g.109870112G>A Copied from the Exome Variant Server SORT1_000066 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1474+38G>A r.(=) p.(=) g.109870083C>T Copied from the Exome Variant Server SORT1_000064 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1475-4G>T r.spl? p.? g.109869786C>A Copied from the Exome Variant Server SORT1_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1479C>T r.(=) p.(=) g.109869778G>A Copied from the Exome Variant Server SORT1_000060 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1608C>A r.(=) p.(=) g.109869649G>T Copied from the Exome Variant Server SORT1_000058 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1617C>A r.(?) p.(His539Gln) g.109869640G>T Copied from the Exome Variant Server SORT1_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1623C>T r.(=) p.(=) g.109869634G>A Copied from the Exome Variant Server SORT1_000055 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1630A>G r.(?) p.(Ile544Val) g.109869627T>C Copied from the Exome Variant Server SORT1_000054 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1644-41A>C r.(=) p.(=) g.109867752T>G Copied from the Exome Variant Server SORT1_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1656C>T r.(=) p.(=) g.109867699G>A Copied from the Exome Variant Server SORT1_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1682C>T r.(?) p.(Thr561Met) g.109867673G>A Copied from the Exome Variant Server SORT1_000136 23/13006 0/8600 23/4406 - - - - - - -
?/? c.1686C>T r.(=) p.(=) g.109867669G>A Copied from the Exome Variant Server SORT1_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1720T>G r.(?) p.(Ser574Ala) g.109867635A>C Copied from the Exome Variant Server SORT1_000046 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1781_1783del r.(?) p.(Thr594del) g.109867572_109867574del Copied from the Exome Variant Server SORT1_000044 36/12520 20/8254 16/4266 - - - - - - -
?/? c.1784G>T r.(?) p.(Ser595Ile) g.109867571C>A Copied from the Exome Variant Server SORT1_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1805T>C r.(?) p.(Ile602Thr) g.109867550A>G Copied from the Exome Variant Server SORT1_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1835-25C>G r.(=) p.(=) g.109865768G>C Copied from the Exome Variant Server SORT1_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1948G>A r.(?) p.(Val650Met) g.109865630C>T Copied from the Exome Variant Server SORT1_000052 4/13006 2/8600 2/4406 - - - - - - -
?/? c.1964G>A r.(?) p.(Arg655Gln) g.109865614C>T Copied from the Exome Variant Server SORT1_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1967A>G r.(?) p.(Asp656Gly) g.109865611T>C Copied from the Exome Variant Server SORT1_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2024+17G>C r.(=) p.(=) g.109865537C>G Copied from the Exome Variant Server SORT1_000047 2/13006 2/8600 0/4406 - - - - - - -
?/? c.2024+32C>T r.(=) p.(=) g.109865522G>A Copied from the Exome Variant Server SORT1_000045 21/13006 0/8600 21/4406 - - - - - - -
?/? c.2024+35T>G r.(=) p.(=) g.109865519A>C Copied from the Exome Variant Server SORT1_000043 28/13006 26/8600 2/4406 - - - - - - -
?/? c.2024+49G>A r.(=) p.(=) g.109865505C>T Copied from the Exome Variant Server SORT1_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2025-47G>A r.(=) p.(=) g.109860638C>T Copied from the Exome Variant Server SORT1_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2025-30G>C r.(=) p.(=) g.109860621C>G Copied from the Exome Variant Server SORT1_000037 1/13006 1/8600 0/4406 - - - - - - -
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