Full data view for gene SQSTM1

Information The variants shown are described using the NM_001142298.1 transcript reference sequence.

165 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.-203G>A r.(=) p.(=) g.179233545G>A Copied from the Exome Variant Server SQSTM1_000011 5/10290 0/6702 5/3588 - - - - - - -
?/? c.-47-2056G>C r.(=) p.(=) g.179247902G>C Copied from the Exome Variant Server SQSTM1_000013 107/11732 4/7802 103/3930 - - - - - - -
?/? c.-47-2046G>A r.(=) p.(=) g.179247912G>A Copied from the Exome Variant Server SQSTM1_000015 123/11986 0/7966 123/4020 - - - - - - -
?/? c.-47-2039G>A r.(=) p.(=) g.179247919G>A Copied from the Exome Variant Server SQSTM1_000017 3/11976 3/7960 0/4016 - - - - - - -
?/? c.-47-2032C>T r.(=) p.(=) g.179247926C>T Copied from the Exome Variant Server SQSTM1_000001 2/12008 2/7986 0/4022 - - - - - - -
?/? c.-47-2017C>T r.(=) p.(=) g.179247941C>T Copied from the Exome Variant Server SQSTM1_000002 2/12356 0/8204 2/4152 - - - - - - -
?/? c.-47-1972C>T r.(=) p.(=) g.179247986C>T Copied from the Exome Variant Server SQSTM1_000003 1/12408 1/8246 0/4162 - - - - - - -
?/? c.-47-1924C>T r.(=) p.(=) g.179248034C>T Copied from the Exome Variant Server SQSTM1_000004 6/10962 6/7388 0/3574 - - - - - - -
?/? c.-47-1916G>A r.(=) p.(=) g.179248042G>A Copied from the Exome Variant Server SQSTM1_000005 1/10644 1/7204 0/3440 - - - - - - -
?/? c.-47-52T>C r.(=) p.(=) g.179249906T>C Copied from the Exome Variant Server SQSTM1_000006 1/10300 0/7164 1/3136 - - - - - - -
?/? c.-47-24C>T r.(=) p.(=) g.179249934C>T Copied from the Exome Variant Server SQSTM1_000007 1/13004 0/8598 1/4406 - - - - - - -
?/? c.-47-23G>A r.(=) p.(=) g.179249935G>A Copied from the Exome Variant Server SQSTM1_000008 4/13004 1/8598 3/4406 - - - - - - -
?/? c.-47-21G>A r.(=) p.(=) g.179249937G>A Copied from the Exome Variant Server SQSTM1_000009 1/13004 1/8598 0/4406 - - - - - - -
?/? c.-47-8_-47-5del N/A N/A g.179249950_179249953del Copied from the Exome Variant Server SQSTM1_000010 1/12516 1/8252 0/4264 - - - - - - -
?/? c.-47-4C>T r.spl? p.? g.179249954C>T Copied from the Exome Variant Server SQSTM1_000012 1/13004 1/8598 0/4406 - - - - - - -
?/? c.-47-2A>G r.spl? p.? g.179249956A>G Copied from the Exome Variant Server SQSTM1_000014 2/13004 0/8598 2/4406 - - - - - - -
?/? c.-39G>A r.(=) p.(=) g.179249966G>A Copied from the Exome Variant Server SQSTM1_000016 1/13004 0/8598 1/4406 - - - - - - -
?/? c.-31G>A r.(=) p.(=) g.179249974G>A Copied from the Exome Variant Server SQSTM1_000018 1/13004 1/8598 0/4406 - - - - - - -
?/? c.-15G>A r.(=) p.(=) g.179249990G>A Copied from the Exome Variant Server SQSTM1_000019 1/13004 1/8598 0/4406 - - - - - - -
?/? c.-12G>A r.(=) p.(=) g.179249993G>A Copied from the Exome Variant Server SQSTM1_000020 1/13004 1/8598 0/4406 - - - - - - -
?/? c.15C>T r.(=) p.(=) g.179250019C>T Copied from the Exome Variant Server SQSTM1_000021 1/13004 1/8598 0/4406 - - - - - - -
?/? c.49+30G>A r.(=) p.(=) g.179250083G>A Copied from the Exome Variant Server SQSTM1_000022 2/13006 0/8600 2/4406 - - - - - - -
?/? c.49+40C>T r.(=) p.(=) g.179250093C>T Copied from the Exome Variant Server SQSTM1_000023 13/13004 6/8600 7/4404 - - - - - - -
?/? c.49+49A>G r.(=) p.(=) g.179250102A>G Copied from the Exome Variant Server SQSTM1_000024 1/13002 0/8598 1/4404 - - - - - - -
?/? c.50-51G>T r.(=) p.(=) g.179250807G>T Copied from the Exome Variant Server SQSTM1_000025 8/12734 7/8454 1/4280 - - - - - - -
?/? c.50-29C>T r.(=) p.(=) g.179250829C>T Copied from the Exome Variant Server SQSTM1_000026 1/12956 1/8574 0/4382 - - - - - - -
?/? c.50-24C>T r.(=) p.(=) g.179250834C>T Copied from the Exome Variant Server SQSTM1_000027 1/12972 0/8580 1/4392 - - - - - - -
?/? c.50-23G>A r.(=) p.(=) g.179250835G>A Copied from the Exome Variant Server SQSTM1_000028 3/12978 1/8584 2/4394 - - - - - - -
?/? c.76C>T r.(?) p.(Arg26Cys) g.179250884C>T Copied from the Exome Variant Server SQSTM1_000029 5/13006 0/8600 5/4406 - - - - - - -
?/? c.80C>T r.(?) p.(Pro27Leu) g.179250888C>T Copied from the Exome Variant Server SQSTM1_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.84G>A r.(=) p.(=) g.179250892G>A Copied from the Exome Variant Server SQSTM1_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.98C>T r.(?) p.(Ala33Val) g.179250906C>T Copied from the Exome Variant Server SQSTM1_000032 10/13006 10/8600 0/4406 - - - - - - -
?/? c.99G>A r.(=) p.(=) g.179250907G>A Copied from the Exome Variant Server SQSTM1_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.100C>T r.(?) p.(Pro34Ser) g.179250908C>T Copied from the Exome Variant Server SQSTM1_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.120C>T r.(=) p.(=) g.179250928C>T Copied from the Exome Variant Server SQSTM1_000035 6/13006 0/8600 6/4406 - - - - - - -
?/? c.149C>T r.(?) p.(Pro50Leu) g.179250957C>T Copied from the Exome Variant Server SQSTM1_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.150T>C r.(=) p.(=) g.179250958T>C Copied from the Exome Variant Server SQSTM1_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.176G>A r.(?) p.(Ser59Asn) g.179250984G>A Copied from the Exome Variant Server SQSTM1_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.177C>A r.(?) p.(Ser59Arg) g.179250985C>A Copied from the Exome Variant Server SQSTM1_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.204C>T r.(=) p.(=) g.179251012C>T Copied from the Exome Variant Server SQSTM1_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.205G>A r.(?) p.(Val69Ile) g.179251013G>A Copied from the Exome Variant Server SQSTM1_000041 9/13006 9/8600 0/4406 - - - - - - -
?/? c.230G>T r.(?) p.(Arg77Leu) g.179251038G>T Copied from the Exome Variant Server SQSTM1_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.239C>G r.(?) p.(Thr80Ser) g.179251047C>G Copied from the Exome Variant Server SQSTM1_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.244C>G r.(?) p.(Leu82Val) g.179251052C>G Copied from the Exome Variant Server SQSTM1_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.246C>T r.(=) p.(=) g.179251054C>T Copied from the Exome Variant Server SQSTM1_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.256A>G r.(?) p.(Ser86Gly) g.179251064A>G Copied from the Exome Variant Server SQSTM1_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.261C>G r.(=) p.(=) g.179251069C>G Copied from the Exome Variant Server SQSTM1_000051 2/13006 2/8600 0/4406 - - - - - - -
?/? c.280-39C>T r.(=) p.(=) g.179251143C>T Copied from the Exome Variant Server SQSTM1_000053 5/13006 0/8600 5/4406 - - - - - - -
?/? c.280-37C>T r.(=) p.(=) g.179251145C>T Copied from the Exome Variant Server SQSTM1_000055 14/13006 14/8600 0/4406 - - - - - - -
?/? c.280-23C>T r.(=) p.(=) g.179251159C>T Copied from the Exome Variant Server SQSTM1_000057 289/13006 1/8600 288/4406 - - - - - - -
?/? c.280-19C>T r.(=) p.(=) g.179251163C>T Copied from the Exome Variant Server SQSTM1_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.288G>A r.(=) p.(=) g.179251190G>A Copied from the Exome Variant Server SQSTM1_000061 2/13006 2/8600 0/4406 - - - - - - -
?/? c.327C>T r.(=) p.(=) g.179251229C>T Copied from the Exome Variant Server SQSTM1_000063 2/13006 2/8600 0/4406 - - - - - - -
?/? c.328del r.(?) p.(Trp111Glyfs*40) g.179251230del Copied from the Exome Variant Server SQSTM1_000064 18/12518 9/8254 9/4264 - - - - - - -
?/? c.328G>A r.(?) p.(Gly110Arg) g.179251230G>A Copied from the Exome Variant Server SQSTM1_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.375_377del r.(?) p.(Pro127del) g.179251277_179251279del Copied from the Exome Variant Server SQSTM1_000046 1/12518 1/8254 0/4264 - - - - - - -
?/? c.380C>G r.(?) p.(Pro127Arg) g.179251282C>G Copied from the Exome Variant Server SQSTM1_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.382C>T r.(?) p.(Arg128Cys) g.179251284C>T Copied from the Exome Variant Server SQSTM1_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.422-49T>A r.(=) p.(=) g.179252097T>A Copied from the Exome Variant Server SQSTM1_000052 3/13006 3/8600 0/4406 - - - - - - -
?/? c.422-32A>T r.(=) p.(=) g.179252114A>T Copied from the Exome Variant Server SQSTM1_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.422-17C>T r.(=) p.(=) g.179252129C>T Copied from the Exome Variant Server SQSTM1_000056 5/13006 0/8600 5/4406 - - - - - - -
?/? c.431C>T r.(?) p.(Pro144Leu) g.179252155C>T Copied from the Exome Variant Server SQSTM1_000058 5/13006 4/8600 1/4406 - - - - - - -
?/? c.435G>A r.(=) p.(=) g.179252159G>A Copied from the Exome Variant Server SQSTM1_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.444G>A r.(=) p.(=) g.179252168G>A Copied from the Exome Variant Server SQSTM1_000062 1/13006 0/8600 1/4406 - - - - - - -
?/? c.460A>G r.(?) p.(Lys154Glu) g.179252184A>G Copied from the Exome Variant Server SQSTM1_000065 34/13006 30/8600 4/4406 - - - - - - -
?/? c.467T>C r.(?) p.(Val156Ala) g.179252191T>C Copied from the Exome Variant Server SQSTM1_000066 2/13006 0/8600 2/4406 - - - - - - -
?/? c.469del r.(?) p.(Glu158Argfs*27) g.179252193del Copied from the Exome Variant Server SQSTM1_000067 1/12518 1/8254 0/4264 - - - - - - -
?/? c.502+39C>A r.(=) p.(=) g.179252265C>A Copied from the Exome Variant Server SQSTM1_000069 231/13006 207/8600 24/4406 - - - - - - -
?/? c.502+43C>T r.(=) p.(=) g.179252269C>T Copied from the Exome Variant Server SQSTM1_000071 1/13006 0/8600 1/4406 - - - - - - -
?/? c.502+45C>G r.(=) p.(=) g.179252271C>G Copied from the Exome Variant Server SQSTM1_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.503-29C>T r.(=) p.(=) g.179260003C>T Copied from the Exome Variant Server SQSTM1_000075 1/13006 0/8600 1/4406 - - - - - - -
?/? c.503-23G>A r.(=) p.(=) g.179260009G>A Copied from the Exome Variant Server SQSTM1_000077 3914/13006 2813/8600 1101/4406 - - - - - - -
?/? c.503-8G>T r.(=) p.(=) g.179260024G>T Copied from the Exome Variant Server SQSTM1_000079 2/13006 0/8600 2/4406 - - - - - - -
?/? c.519C>T r.(=) p.(=) g.179260048C>T Copied from the Exome Variant Server SQSTM1_000081 1/13006 0/8600 1/4406 - - - - - - -
?/? c.531C>T r.(=) p.(=) g.179260060C>T Copied from the Exome Variant Server SQSTM1_000083 2/13006 1/8600 1/4406 - - - - - - -
?/? c.547C>T r.(?) p.(Arg183Cys) g.179260076C>T Copied from the Exome Variant Server SQSTM1_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.548G>A r.(?) p.(Arg183His) g.179260077G>A Copied from the Exome Variant Server SQSTM1_000087 2/13006 1/8600 1/4406 - - - - - - -
?/? c.559G>A r.(?) p.(Val187Ile) g.179260088G>A Copied from the Exome Variant Server SQSTM1_000089 2/13006 0/8600 2/4406 - - - - - - -
?/? c.561C>G r.(=) p.(=) g.179260090C>G Copied from the Exome Variant Server SQSTM1_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.567_568del r.(?) p.(Ser191Phefs*17) g.179260096_179260097del Copied from the Exome Variant Server SQSTM1_000068 6/12518 6/8254 0/4264 - - - - - - -
?/? c.570G>C r.(?) p.(Glu190Asp) g.179260099G>C Copied from the Exome Variant Server SQSTM1_000070 243/13006 218/8600 25/4406 - - - - - - -
?/? c.572G>A r.(?) p.(Ser191Asn) g.179260101G>A Copied from the Exome Variant Server SQSTM1_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.583_585del r.(?) p.(Glu196del) g.179260112_179260114del Copied from the Exome Variant Server SQSTM1_000074 14/12518 8/8254 6/4264 - - - - - - -
?/? c.595A>G r.(?) p.(Ser199Gly) g.179260124A>G Copied from the Exome Variant Server SQSTM1_000076 2/13006 2/8600 0/4406 - - - - - - -
?/? c.624C>T r.(=) p.(=) g.179260153C>T Copied from the Exome Variant Server SQSTM1_000078 7767/13006 4553/8600 3214/4406 - - - - - - -
?/? c.635C>T r.(?) p.(Pro212Leu) g.179260164C>T Copied from the Exome Variant Server SQSTM1_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.636G>A r.(=) p.(=) g.179260165G>A Copied from the Exome Variant Server SQSTM1_000082 6/13006 1/8600 5/4406 - - - - - - -
?/? c.645T>A r.(?) p.(Asn215Lys) g.179260174T>A Copied from the Exome Variant Server SQSTM1_000084 1/13006 0/8600 1/4406 - - - - - - -
?/? c.654C>T r.(=) p.(=) g.179260183C>T Copied from the Exome Variant Server SQSTM1_000086 222/13006 2/8600 220/4406 - - - - - - -
?/? c.656C>T r.(?) p.(Ala219Val) g.179260185C>T Copied from the Exome Variant Server SQSTM1_000088 1/13006 0/8600 1/4406 - - - - - - -
?/? c.659C>T r.(?) p.(Thr220Met) g.179260188C>T Copied from the Exome Variant Server SQSTM1_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.660G>A r.(=) p.(=) g.179260189G>A Copied from the Exome Variant Server SQSTM1_000092 2/13006 2/8600 0/4406 - - - - - - -
?/? c.672G>A r.(=) p.(=) g.179260201G>A Copied from the Exome Variant Server SQSTM1_000093 5/13006 5/8600 0/4406 - - - - - - -
?/? c.684G>A r.(=) p.(=) g.179260213G>A Copied from the Exome Variant Server SQSTM1_000094 6482/13004 4495/8600 1987/4404 - - - - - - -
?/? c.690C>T r.(=) p.(=) g.179260219C>T Copied from the Exome Variant Server SQSTM1_000095 1/13004 0/8600 1/4404 - - - - - - -
?/? c.694T>C r.(=) p.(=) g.179260223T>C Copied from the Exome Variant Server SQSTM1_000096 3/13000 0/8600 3/4400 - - - - - - -
?/? c.702C>T r.(=) p.(=) g.179260231C>T Copied from the Exome Variant Server SQSTM1_000097 466/12988 182/8590 284/4398 - - - - - - -
?/? c.703G>A r.(?) p.(Glu235Lys) g.179260232G>A Copied from the Exome Variant Server SQSTM1_000098 181/12976 2/8586 179/4390 - - - - - - -
?/? c.709C>T r.(?) p.(Arg237Cys) g.179260238C>T Copied from the Exome Variant Server SQSTM1_000099 142/12962 3/8580 139/4382 - - - - - - -
?/? c.717+20G>A r.(=) p.(=) g.179260266G>A Copied from the Exome Variant Server SQSTM1_000100 7/12796 0/8470 7/4326 - - - - - - -
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