Full data view for gene PSG7

Information The variants shown are described using the NM_001206650.1 transcript reference sequence.

186 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.-67C>T r.(=) p.(=) g.43441295G>A Copied from the Exome Variant Server PSG7_000185 1/4566 0/3182 1/1384 - - - - - - -
?/? c.-66G>A r.(=) p.(=) g.43441294C>T Copied from the Exome Variant Server PSG7_000184 3/4566 1/3182 2/1384 - - - - - - -
?/? c.-55G>T r.(=) p.(=) g.43441283C>A Copied from the Exome Variant Server PSG7_000183 1/4566 1/3182 0/1384 - - - - - - -
?/? c.-50T>C r.(=) p.(=) g.43441278A>G Copied from the Exome Variant Server PSG7_000182 240/7270 1/4618 239/2652 - - - - - - -
?/? c.-47A>T r.(=) p.(=) g.43441275T>A Copied from the Exome Variant Server PSG7_000180 1/12998 0/8596 1/4402 - - - - - - -
?/? c.-44C>T r.(=) p.(=) g.43441272G>A Copied from the Exome Variant Server PSG7_000179 274/12998 4/8596 270/4402 - - - - - - -
?/? c.-37C>T r.(=) p.(=) g.43441265G>A Copied from the Exome Variant Server PSG7_000177 3/12998 2/8596 1/4402 - - - - - - -
?/? c.-17C>T r.(=) p.(=) g.43441245G>A Copied from the Exome Variant Server PSG7_000174 4/12998 2/8596 2/4402 - - - - - - -
?/? c.-16G>A r.(=) p.(=) g.43441244C>T Copied from the Exome Variant Server PSG7_000173 4/12998 3/8596 1/4402 - - - - - - -
?/? c.-14A>G r.(=) p.(=) g.43441242T>C Copied from the Exome Variant Server PSG7_000171 1/12998 0/8596 1/4402 - - - - - - -
?/? c.-11G>C r.(=) p.(=) g.43441239C>G Copied from the Exome Variant Server PSG7_000168 7/12998 3/8596 4/4402 - - - - - - -
?/? c.-2C>T r.(=) p.(=) g.43441230G>A Copied from the Exome Variant Server PSG7_000166 1/12998 1/8596 0/4402 - - - - - - -
?/? c.6G>A r.(=) p.(=) g.43441223C>T Copied from the Exome Variant Server PSG7_000165 2/12998 2/8596 0/4402 - - - - - - -
?/? c.7C>A r.(?) p.(Pro3Thr) g.43441222G>T Copied from the Exome Variant Server PSG7_000162 2/12998 2/8596 0/4402 - - - - - - -
?/? c.10C>G r.(?) p.(Leu4Val) g.43441219G>C Copied from the Exome Variant Server PSG7_000161 1/12998 0/8596 1/4402 - - - - - - -
?/? c.30A>T r.(=) p.(=) g.43441199T>A Copied from the Exome Variant Server PSG7_000158 1/13000 0/8598 1/4402 - - - - - - -
?/? c.35A>G r.(?) p.(His12Arg) g.43441194T>C Copied from the Exome Variant Server PSG7_000156 4/13000 4/8598 0/4402 - - - - - - -
?/? c.36T>C r.(=) p.(=) g.43441193A>G Copied from the Exome Variant Server PSG7_000154 7/13000 6/8598 1/4402 - - - - - - -
?/? c.39A>C r.(=) p.(=) g.43441190T>G Copied from the Exome Variant Server PSG7_000186 7/13000 6/8598 1/4402 - - - - - - -
?/? c.41C>A r.(?) p.(Thr14Asn) g.43441188G>T Copied from the Exome Variant Server PSG7_000152 1/13000 1/8598 0/4402 - - - - - - -
?/? c.42C>T r.(=) p.(=) g.43441187G>A Copied from the Exome Variant Server PSG7_000150 1/13000 1/8598 0/4402 - - - - - - -
?/? c.64G>T r.(?) p.(Val22Leu) g.43441165C>A Copied from the Exome Variant Server PSG7_000148 1/13000 1/8598 0/4402 - - - - - - -
?/? c.64+9A>G r.(=) p.(=) g.43441156T>C Copied from the Exome Variant Server PSG7_000146 1/13000 1/8598 0/4402 - - - - - - -
?/? c.64+11A>G r.(=) p.(=) g.43441154T>C Copied from the Exome Variant Server PSG7_000144 1/13000 1/8598 0/4402 - - - - - - -
?/? c.64+19G>A r.(=) p.(=) g.43441146C>T Copied from the Exome Variant Server PSG7_000142 1/13000 1/8598 0/4402 - - - - - - -
?/? c.64+41C>A r.(=) p.(=) g.43441124G>T Copied from the Exome Variant Server PSG7_000181 3/13000 3/8598 0/4402 - - - - - - -
?/? c.64+57G>T r.(=) p.(=) g.43441108C>A Copied from the Exome Variant Server PSG7_000178 17/4566 17/3182 0/1384 - - - - - - -
?/? c.64+60C>A r.(=) p.(=) g.43441105G>T Copied from the Exome Variant Server PSG7_000176 11/4566 11/3182 0/1384 - - - - - - -
?/? c.64+65A>G r.(=) p.(=) g.43441100T>C Copied from the Exome Variant Server PSG7_000175 1/4566 1/3182 0/1384 - - - - - - -
?/? c.64+1195A>C r.(=) p.(=) g.43439970T>G Copied from the Exome Variant Server PSG7_000172 2027/12994 1246/8596 781/4398 - - - - - - -
?/? c.64+1201C>T r.(=) p.(=) g.43439964G>A Copied from the Exome Variant Server PSG7_000170 299/12996 4/8598 295/4398 - - - - - - -
?/? c.64+1214A>G r.(=) p.(=) g.43439951T>C Copied from the Exome Variant Server PSG7_000169 2/13002 2/8598 0/4404 - - - - - - -
?/? c.64+1231C>A r.(=) p.(=) g.43439934G>T Copied from the Exome Variant Server PSG7_000167 2/13002 1/8598 1/4404 - - - - - - -
?/? c.64+1253T>G r.(=) p.(=) g.43439912A>C Copied from the Exome Variant Server PSG7_000164 1/13004 0/8600 1/4404 - - - - - - -
?/? c.64+1257C>T r.(=) p.(=) g.43439908G>A Copied from the Exome Variant Server PSG7_000163 1/13004 1/8600 0/4404 - - - - - - -
?/? c.64+1268C>T r.(=) p.(=) g.43439897G>A Copied from the Exome Variant Server PSG7_000160 9/13004 3/8600 6/4404 - - - - - - -
?/? c.64+1269G>A r.(=) p.(=) g.43439896C>T Copied from the Exome Variant Server PSG7_000159 6/13004 0/8600 6/4404 - - - - - - -
?/? c.64+1292T>C r.(=) p.(=) g.43439873A>G Copied from the Exome Variant Server PSG7_000157 1/13002 1/8600 0/4402 - - - - - - -
?/? c.64+1317C>T r.(=) p.(=) g.43439848G>A Copied from the Exome Variant Server PSG7_000155 1790/13000 1258/8598 532/4402 - - - - - - -
?/? c.64+1321G>A r.(=) p.(=) g.43439844C>T Copied from the Exome Variant Server PSG7_000153 3/12996 0/8594 3/4402 - - - - - - -
?/? c.64+1323G>T r.(=) p.(=) g.43439842C>A Copied from the Exome Variant Server PSG7_000151 1/12996 1/8594 0/4402 - - - - - - -
?/? c.64+1356C>T r.(=) p.(=) g.43439809G>A Copied from the Exome Variant Server PSG7_000149 31/12994 1/8592 30/4402 - - - - - - -
?/? c.64+1378T>C r.(=) p.(=) g.43439787A>G Copied from the Exome Variant Server PSG7_000147 3/13000 3/8598 0/4402 - - - - - - -
?/? c.64+1379G>C r.(=) p.(=) g.43439786C>G Copied from the Exome Variant Server PSG7_000145 2/13000 2/8598 0/4402 - - - - - - -
?/? c.64+1426A>G r.(=) p.(=) g.43439739T>C Copied from the Exome Variant Server PSG7_000143 2210/13002 1265/8600 945/4402 - - - - - - -
?/? c.64+1431A>T r.(=) p.(=) g.43439734T>A Copied from the Exome Variant Server PSG7_000141 1/13002 0/8600 1/4402 - - - - - - -
?/? c.64+1434C>A r.(=) p.(=) g.43439731G>T Copied from the Exome Variant Server PSG7_000140 1/13002 1/8600 0/4402 - - - - - - -
?/? c.64+1466G>C r.(=) p.(=) g.43439699C>G Copied from the Exome Variant Server PSG7_000139 1/13002 0/8600 1/4402 - - - - - - -
?/? c.64+1471T>C r.(=) p.(=) g.43439694A>G Copied from the Exome Variant Server PSG7_000138 2366/13002 1409/8600 957/4402 - - - - - - -
?/? c.64+1487C>A r.(=) p.(=) g.43439678G>T Copied from the Exome Variant Server PSG7_000137 1/13002 1/8600 0/4402 - - - - - - -
?/? c.64+1504A>G r.(=) p.(=) g.43439661T>C Copied from the Exome Variant Server PSG7_000136 1/13002 1/8600 0/4402 - - - - - - -
?/? c.64+1524A>T r.(=) p.(=) g.43439641T>A Copied from the Exome Variant Server PSG7_000135 1/13000 1/8598 0/4402 - - - - - - -
?/? c.64+1529C>T r.(=) p.(=) g.43439636G>A Copied from the Exome Variant Server PSG7_000134 1/13000 1/8598 0/4402 - - - - - - -
?/? c.64+1536C>T r.(=) p.(=) g.43439629G>A Copied from the Exome Variant Server PSG7_000133 1/13000 1/8598 0/4402 - - - - - - -
?/? c.64+1537T>C r.(=) p.(=) g.43439628A>G Copied from the Exome Variant Server PSG7_000132 329/13000 4/8598 325/4402 - - - - - - -
?/? c.64+1551C>G r.(=) p.(=) g.43439614G>C Copied from the Exome Variant Server PSG7_000131 2/13000 2/8598 0/4402 - - - - - - -
?/? c.64+1559G>A r.(=) p.(=) g.43439606C>T Copied from the Exome Variant Server PSG7_000130 17/13000 0/8598 17/4402 - - - - - - -
?/? c.64+1586G>C r.(=) p.(=) g.43439579C>G Copied from the Exome Variant Server PSG7_000129 7/13000 0/8598 7/4402 - - - - - - -
?/? c.64+1588C>T r.(=) p.(=) g.43439577G>A Copied from the Exome Variant Server PSG7_000128 136/13000 1/8598 135/4402 - - - - - - -
?/? c.64+1601C>G r.(=) p.(=) g.43439564G>C Copied from the Exome Variant Server PSG7_000127 3/13000 2/8598 1/4402 - - - - - - -
?/? c.64+1615T>G r.(=) p.(=) g.43439550A>C Copied from the Exome Variant Server PSG7_000126 5/13002 0/8600 5/4402 - - - - - - -
?/? c.64+1618T>C r.(=) p.(=) g.43439547A>G Copied from the Exome Variant Server PSG7_000125 2/13002 2/8600 0/4402 - - - - - - -
?/? c.64+1621C>T r.(=) p.(=) g.43439544G>A Copied from the Exome Variant Server PSG7_000124 6/13002 0/8600 6/4402 - - - - - - -
?/? c.64+1635G>A r.(=) p.(=) g.43439530C>T Copied from the Exome Variant Server PSG7_000123 3/13002 0/8600 3/4402 - - - - - - -
?/? c.64+1637G>T r.(=) p.(=) g.43439528C>A Copied from the Exome Variant Server PSG7_000122 2198/13002 1150/8600 1048/4402 - - - - - - -
?/? c.64+1639_64+1640insT r.(=) p.(=) g.43439525_43439526insA Copied from the Exome Variant Server PSG7_000121 2/12516 1/8254 1/4262 - - - - - - -
?/? c.64+1645G>A r.(=) p.(=) g.43439520C>T Copied from the Exome Variant Server PSG7_000120 385/13002 4/8600 381/4402 - - - - - - -
?/? c.64+1656T>C r.(=) p.(=) g.43439509A>G Copied from the Exome Variant Server PSG7_000119 27/13002 22/8600 5/4402 - - - - - - -
?/? c.65-51G>A r.(=) p.(=) g.43433923C>T Copied from the Exome Variant Server PSG7_000118 1/7270 1/4618 0/2652 - - - - - - -
?/? c.65-49G>T r.(=) p.(=) g.43433921C>A Copied from the Exome Variant Server PSG7_000117 1/13000 1/8598 0/4402 - - - - - - -
?/? c.65-46G>A r.(=) p.(=) g.43433918C>T Copied from the Exome Variant Server PSG7_000116 6/13000 4/8598 2/4402 - - - - - - -
?/? c.65-17_65-14del r.(=) p.(=) g.43433886_43433889del Copied from the Exome Variant Server PSG7_000115 61/12510 0/8254 61/4256 - - - - - - -
?/? c.65-7C>T r.(=) p.(=) g.43433879G>A Copied from the Exome Variant Server PSG7_000114 18/13002 16/8600 2/4402 - - - - - - -
?/? c.65-6G>C r.(=) p.(=) g.43433878C>G Copied from the Exome Variant Server PSG7_000113 2/13002 2/8600 0/4402 - - - - - - -
?/? c.69G>A r.(=) p.(=) g.43433868C>T Copied from the Exome Variant Server PSG7_000112 16/13002 0/8600 16/4402 - - - - - - -
?/? c.75C>G r.(=) p.(=) g.43433862G>C Copied from the Exome Variant Server PSG7_000111 3/13002 3/8600 0/4402 - - - - - - -
?/? c.83C>G r.(?) p.(Ser28Cys) g.43433854G>C Copied from the Exome Variant Server PSG7_000110 2/13002 2/8600 0/4402 - - - - - - -
?/? c.95G>C r.(?) p.(Ser32Thr) g.43433842C>G Copied from the Exome Variant Server PSG7_000109 1/13000 0/8598 1/4402 - - - - - - -
?/? c.119C>A r.(?) p.(Thr40Lys) g.43433818G>T Copied from the Exome Variant Server PSG7_000108 1/13002 0/8600 1/4402 - - - - - - -
?/? c.123G>A r.(=) p.(=) g.43433814C>T Copied from the Exome Variant Server PSG7_000107 1/13002 0/8600 1/4402 - - - - - - -
?/? c.130A>G r.(?) p.(Ile44Val) g.43433807T>C Copied from the Exome Variant Server PSG7_000106 2/13002 2/8600 0/4402 - - - - - - -
?/? c.132T>C r.(=) p.(=) g.43433805A>G Copied from the Exome Variant Server PSG7_000105 4885/13002 2421/8600 2464/4402 - - - - - - -
?/? c.138C>A r.(=) p.(=) g.43433799G>T Copied from the Exome Variant Server PSG7_000104 1/13002 0/8600 1/4402 - - - - - - -
?/? c.158A>C r.(?) p.(Asp53Ala) g.43433779T>G Copied from the Exome Variant Server PSG7_000103 3/13002 2/8600 1/4402 - - - - - - -
?/? c.161C>G r.(?) p.(Ala54Gly) g.43433776G>C Copied from the Exome Variant Server PSG7_000102 1/13002 1/8600 0/4402 - - - - - - -
?/? c.164G>A r.(?) p.(Ser55Asn) g.43433773C>T Copied from the Exome Variant Server PSG7_000101 1/13002 1/8600 0/4402 - - - - - - -
?/? c.165C>A r.(?) p.(Ser55Arg) g.43433772G>T Copied from the Exome Variant Server PSG7_000100 1/13002 0/8600 1/4402 - - - - - - -
?/? c.168C>T r.(=) p.(=) g.43433769G>A Copied from the Exome Variant Server PSG7_000099 3/13002 0/8600 3/4402 - - - - - - -
?/? c.170T>A r.(?) p.(Leu57Gln) g.43433767A>T Copied from the Exome Variant Server PSG7_000098 1/13002 0/8600 1/4402 - - - - - - -
?/? c.177G>C r.(?) p.(Trp59Cys) g.43433760C>G Copied from the Exome Variant Server PSG7_000097 1/13000 0/8598 1/4402 - - - - - - -
?/? c.201G>T r.(?) p.(Met67Ile) g.43433736C>A Copied from the Exome Variant Server PSG7_000096 100/13000 1/8598 99/4402 - - - - - - -
?/? c.235A>T r.(?) p.(Thr79Ser) g.43433702T>A Copied from the Exome Variant Server PSG7_000095 1/13002 0/8600 1/4402 - - - - - - -
?/? c.250G>T r.(?) p.(Gly84Cys) g.43433687C>A Copied from the Exome Variant Server PSG7_000094 1/13002 0/8600 1/4402 - - - - - - -
?/? c.261C>G r.(?) p.(Asn87Lys) g.43433676G>C Copied from the Exome Variant Server PSG7_000093 71/13000 64/8598 7/4402 - - - - - - -
?/? c.263A>G r.(?) p.(Tyr88Cys) g.43433674T>C Copied from the Exome Variant Server PSG7_000092 2/13000 2/8598 0/4402 - - - - - - -
?/? c.266C>T r.(?) p.(Thr89Ile) g.43433671G>A Copied from the Exome Variant Server PSG7_000091 1/13002 1/8600 0/4402 - - - - - - -
?/? c.267T>C r.(=) p.(=) g.43433670A>G Copied from the Exome Variant Server PSG7_000090 7/13002 7/8600 0/4402 - - - - - - -
?/? c.274C>A r.(?) p.(Pro92Thr) g.43433663G>T Copied from the Exome Variant Server PSG7_000089 7/13002 6/8600 1/4402 - - - - - - -
?/? c.292C>T r.(?) p.(Arg98Trp) g.43433645G>A Copied from the Exome Variant Server PSG7_000088 4/13002 0/8600 4/4402 - - - - - - -
?/? c.293G>A r.(?) p.(Arg98Gln) g.43433644C>T Copied from the Exome Variant Server PSG7_000087 2/13002 1/8600 1/4402 - - - - - - -
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