Full data view for gene REPS1

Information The variants shown are described using the NM_001128617.1 transcript reference sequence.

141 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.250C>T r.(?) p.(Pro84Ser) g.139268954G>A Copied from the Exome Variant Server REPS1_000141 1/13006 0/8600 1/4406 - - - - - - -
?/? c.253T>G r.(?) p.(Leu85Val) g.139268951A>C Copied from the Exome Variant Server REPS1_000140 2/13006 2/8600 0/4406 - - - - - - -
?/? c.277+8T>C r.(=) p.(=) g.139268919A>G Copied from the Exome Variant Server REPS1_000139 9/13006 9/8600 0/4406 - - - - - - -
?/? c.277+18T>C r.(=) p.(=) g.139268909A>G Copied from the Exome Variant Server REPS1_000138 1/13006 1/8600 0/4406 - - - - - - -
?/? c.277+25C>T r.(=) p.(=) g.139268902G>A Copied from the Exome Variant Server REPS1_000137 1/13006 1/8600 0/4406 - - - - - - -
?/? c.277+26G>A r.(=) p.(=) g.139268901C>T Copied from the Exome Variant Server REPS1_000136 13/13004 10/8600 3/4404 - - - - - - -
?/? c.277+37G>C r.(=) p.(=) g.139268890C>G Copied from the Exome Variant Server REPS1_000135 1/13004 1/8600 0/4404 - - - - - - -
?/? c.338C>A r.(?) p.(Ala113Glu) g.139266774G>T Copied from the Exome Variant Server REPS1_000134 1/13006 1/8600 0/4406 - - - - - - -
?/? c.340G>C r.(?) p.(Ala114Pro) g.139266772C>G Copied from the Exome Variant Server REPS1_000132 1/13006 0/8600 1/4406 - - - - - - -
?/? c.375G>A r.(=) p.(=) g.139266737C>T Copied from the Exome Variant Server REPS1_000130 2/13006 2/8600 0/4406 - - - - - - -
?/? c.393C>T r.(=) p.(=) g.139266719G>A Copied from the Exome Variant Server REPS1_000128 1/13006 1/8600 0/4406 - - - - - - -
?/? c.401C>T r.(?) p.(Pro134Leu) g.139266711G>A Copied from the Exome Variant Server REPS1_000126 1/13006 0/8600 1/4406 - - - - - - -
?/? c.429C>T r.(=) p.(=) g.139266683G>A Copied from the Exome Variant Server REPS1_000133 2/13006 0/8600 2/4406 - - - - - - -
?/? c.443C>T r.(?) p.(Thr148Met) g.139266669G>A Copied from the Exome Variant Server REPS1_000131 5/13006 5/8600 0/4406 - - - - - - -
?/? c.444G>A r.(=) p.(=) g.139266668C>T Copied from the Exome Variant Server REPS1_000129 65/13006 0/8600 65/4406 - - - - - - -
?/? c.470C>G r.(?) p.(Ala157Gly) g.139266642G>C Copied from the Exome Variant Server REPS1_000127 1/13006 1/8600 0/4406 - - - - - - -
?/? c.471A>G r.(=) p.(=) g.139266641T>C Copied from the Exome Variant Server REPS1_000125 1/13006 1/8600 0/4406 - - - - - - -
?/? c.474+4A>G r.spl? p.? g.139266634T>C Copied from the Exome Variant Server REPS1_000124 1/13006 1/8600 0/4406 - - - - - - -
?/? c.475-40C>T r.(=) p.(=) g.139266549G>A Copied from the Exome Variant Server REPS1_000123 7/13006 7/8600 0/4406 - - - - - - -
?/? c.478C>T r.(?) p.(Pro160Ser) g.139266506G>A Copied from the Exome Variant Server REPS1_000122 1/13006 1/8600 0/4406 - - - - - - -
?/? c.483A>C r.(=) p.(=) g.139266501T>G Copied from the Exome Variant Server REPS1_000121 31/13006 0/8600 31/4406 - - - - - - -
?/? c.499C>T r.(?) p.(Pro167Ser) g.139266485G>A Copied from the Exome Variant Server REPS1_000120 2/13004 2/8600 0/4404 - - - - - - -
?/? c.547C>T r.(?) p.(Arg183Cys) g.139266437G>A Copied from the Exome Variant Server REPS1_000119 1/13006 0/8600 1/4406 - - - - - - -
?/? c.582C>T r.(=) p.(=) g.139266402G>A Copied from the Exome Variant Server REPS1_000118 1081/13006 174/8600 907/4406 - - - - - - -
?/? c.584C>T r.(?) p.(Ala195Val) g.139266400G>A Copied from the Exome Variant Server REPS1_000117 1/13006 1/8600 0/4406 - - - - - - -
?/? c.594G>A r.(=) p.(=) g.139266390C>T Copied from the Exome Variant Server REPS1_000116 1/13006 1/8600 0/4406 - - - - - - -
?/? c.605C>T r.(?) p.(Ser202Phe) g.139266379G>A Copied from the Exome Variant Server REPS1_000115 1/13006 0/8600 1/4406 - - - - - - -
?/? c.629-42del r.(=) p.(=) g.139265801del Copied from the Exome Variant Server REPS1_000114 32/12518 30/8254 2/4264 - - - - - - -
?/? c.629-33A>G r.(=) p.(=) g.139265792T>C Copied from the Exome Variant Server REPS1_000113 3/13006 3/8600 0/4406 - - - - - - -
?/? c.671C>T r.(?) p.(Pro224Leu) g.139265717G>A Copied from the Exome Variant Server REPS1_000112 4/13006 4/8600 0/4406 - - - - - - -
?/? c.693C>T r.(=) p.(=) g.139265695G>A Copied from the Exome Variant Server REPS1_000111 1/13006 1/8600 0/4406 - - - - - - -
?/? c.753+42C>T r.(=) p.(=) g.139265593G>A Copied from the Exome Variant Server REPS1_000110 1/13006 1/8600 0/4406 - - - - - - -
?/? c.754-39A>G r.(=) p.(=) g.139265191T>C Copied from the Exome Variant Server REPS1_000109 1/13006 1/8600 0/4406 - - - - - - -
?/? c.754-14_754-13insA r.(=) p.(=) g.139265165_139265166insT Copied from the Exome Variant Server REPS1_000108 2/12518 0/8254 2/4264 - - - - - - -
?/? c.780A>G r.(=) p.(=) g.139265126T>C Copied from the Exome Variant Server REPS1_000107 1/13006 1/8600 0/4406 - - - - - - -
?/? c.803T>G r.(?) p.(Ile268Ser) g.139265103A>C Copied from the Exome Variant Server REPS1_000106 7/13006 0/8600 7/4406 - - - - - - -
?/? c.829G>A r.(?) p.(Asp277Asn) g.139265077C>T Copied from the Exome Variant Server REPS1_000105 1/13006 1/8600 0/4406 - - - - - - -
?/? c.832C>T r.(?) p.(Pro278Ser) g.139265074G>A Copied from the Exome Variant Server REPS1_000104 1/13006 1/8600 0/4406 - - - - - - -
?/? c.903C>T r.(=) p.(=) g.139265003G>A Copied from the Exome Variant Server REPS1_000103 4/13006 4/8600 0/4406 - - - - - - -
?/? c.916+18_916+19del r.(=) p.(=) g.139264971_139264972del Copied from the Exome Variant Server REPS1_000102 1/12518 0/8254 1/4264 - - - - - - -
?/? c.916+22T>C r.(=) p.(=) g.139264968A>G Copied from the Exome Variant Server REPS1_000101 1/13006 1/8600 0/4406 - - - - - - -
?/? c.916+50A>G r.(=) p.(=) g.139264940T>C Copied from the Exome Variant Server REPS1_000100 1/13000 0/8600 1/4400 - - - - - - -
?/? c.917-33A>G r.(=) p.(=) g.139264746T>C Copied from the Exome Variant Server REPS1_000099 2/12994 2/8594 0/4400 - - - - - - -
?/? c.917-20A>T r.(=) p.(=) g.139264733T>A Copied from the Exome Variant Server REPS1_000098 4/12996 0/8592 4/4404 - - - - - - -
?/? c.940A>T r.(?) p.(Thr314Ser) g.139264690T>A Copied from the Exome Variant Server REPS1_000097 2/13004 0/8598 2/4406 - - - - - - -
?/? c.981-39G>A r.(=) p.(=) g.139262665C>T Copied from the Exome Variant Server REPS1_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.981-38C>T r.(=) p.(=) g.139262664G>A Copied from the Exome Variant Server REPS1_000095 7/13006 2/8600 5/4406 - - - - - - -
?/? c.981-32G>A r.(=) p.(=) g.139262658C>T Copied from the Exome Variant Server REPS1_000094 2/13006 0/8600 2/4406 - - - - - - -
?/? c.981-24A>G r.(=) p.(=) g.139262650T>C Copied from the Exome Variant Server REPS1_000093 1/13006 0/8600 1/4406 - - - - - - -
?/? c.981-22T>C r.(=) p.(=) g.139262648A>G Copied from the Exome Variant Server REPS1_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.981-17A>G r.(=) p.(=) g.139262643T>C Copied from the Exome Variant Server REPS1_000091 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1135+45C>T r.(=) p.(=) g.139262427G>A Copied from the Exome Variant Server REPS1_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1136-51_1136-50insA r.(=) p.(=) g.139251285_139251286insT Copied from the Exome Variant Server REPS1_000089 1/12510 0/8252 1/4258 - - - - - - -
?/? c.1137T>C r.(=) p.(=) g.139251234A>G Copied from the Exome Variant Server REPS1_000088 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1154G>A r.(?) p.(Gly385Asp) g.139251217C>T Copied from the Exome Variant Server REPS1_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1160T>C r.(?) p.(Val387Ala) g.139251211A>G Copied from the Exome Variant Server REPS1_000086 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1166A>G r.(?) p.(Tyr389Cys) g.139251205T>C Copied from the Exome Variant Server REPS1_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1183G>C r.(?) p.(Glu395Gln) g.139251188C>G Copied from the Exome Variant Server REPS1_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1192C>T r.(?) p.(Pro398Ser) g.139251179G>A Copied from the Exome Variant Server REPS1_000083 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1257+33G>A r.(=) p.(=) g.139251081C>T Copied from the Exome Variant Server REPS1_000081 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1257+3558C>T r.(=) p.(=) g.139247556G>A Copied from the Exome Variant Server REPS1_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1257+3574C>T r.(=) p.(=) g.139247540G>A Copied from the Exome Variant Server REPS1_000077 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1257+3584A>G r.(=) p.(=) g.139247530T>C Copied from the Exome Variant Server REPS1_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1257+3607G>A r.(=) p.(=) g.139247507C>T Copied from the Exome Variant Server REPS1_000080 2/13004 2/8598 0/4406 - - - - - - -
?/? c.1258-42C>T r.(=) p.(=) g.139242303G>A Copied from the Exome Variant Server REPS1_000078 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1258-31A>T r.(=) p.(=) g.139242292T>A Copied from the Exome Variant Server REPS1_000076 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1344C>T r.(=) p.(=) g.139242175G>A Copied from the Exome Variant Server REPS1_000075 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1345+11T>C r.(=) p.(=) g.139242163A>G Copied from the Exome Variant Server REPS1_000074 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1345+38A>G r.(=) p.(=) g.139242136T>C Copied from the Exome Variant Server REPS1_000073 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1346-26A>G r.(=) p.(=) g.139241479T>C Copied from the Exome Variant Server REPS1_000072 1/13000 1/8598 0/4402 - - - - - - -
?/? c.1365C>T r.(=) p.(=) g.139241434G>A Copied from the Exome Variant Server REPS1_000071 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1428C>T r.(=) p.(=) g.139241371G>A Copied from the Exome Variant Server REPS1_000070 29/13004 0/8600 29/4404 - - - - - - -
?/? c.1429G>A r.(?) p.(Ala477Thr) g.139241370C>T Copied from the Exome Variant Server REPS1_000069 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1447+20T>C r.(=) p.(=) g.139241332A>G Copied from the Exome Variant Server REPS1_000068 2167/13004 1392/8600 775/4404 - - - - - - -
?/? c.1448-48A>C r.(=) p.(=) g.139238812T>G Copied from the Exome Variant Server REPS1_000067 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1448-44_1448-43insT r.(=) p.(=) g.139238807_139238808insA Copied from the Exome Variant Server REPS1_000066 2/12518 0/8254 2/4264 - - - - - - -
?/? c.1448-3_1448-2insC r.spl? p.? g.139238766_139238767insG Copied from the Exome Variant Server REPS1_000065 1/12518 0/8254 1/4264 - - - - - - -
?/? c.1520+17A>G r.(=) p.(=) g.139238675T>C Copied from the Exome Variant Server REPS1_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1520+27T>C r.(=) p.(=) g.139238665A>G Copied from the Exome Variant Server REPS1_000063 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1520+31A>C r.(=) p.(=) g.139238661T>G Copied from the Exome Variant Server REPS1_000062 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1520+37T>C r.(=) p.(=) g.139238655A>G Copied from the Exome Variant Server REPS1_000061 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1520+45C>T r.(=) p.(=) g.139238647G>A Copied from the Exome Variant Server REPS1_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1521-42A>G r.(=) p.(=) g.139237155T>C Copied from the Exome Variant Server REPS1_000059 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1521-33del r.(=) p.(=) g.139237146del Copied from the Exome Variant Server REPS1_000058 2/12518 2/8254 0/4264 - - - - - - -
?/? c.1535C>T r.(?) p.(Thr512Met) g.139237099G>A Copied from the Exome Variant Server REPS1_000057 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1538C>T r.(?) p.(Ser513Leu) g.139237096G>A Copied from the Exome Variant Server REPS1_000056 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1539G>A r.(=) p.(=) g.139237095C>T Copied from the Exome Variant Server REPS1_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1583C>T r.(?) p.(Pro528Leu) g.139237051G>A Copied from the Exome Variant Server REPS1_000054 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1608A>G r.(=) p.(=) g.139237026T>C Copied from the Exome Variant Server REPS1_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1639+10A>G r.(=) p.(=) g.139236985T>C Copied from the Exome Variant Server REPS1_000052 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1639+41T>G r.(=) p.(=) g.139236954A>C Copied from the Exome Variant Server REPS1_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1640-67G>A r.(=) p.(=) g.139235965C>T Copied from the Exome Variant Server REPS1_000050 1/4566 0/3182 1/1384 - - - - - - -
?/? c.1641A>G r.(=) p.(=) g.139235897T>C Copied from the Exome Variant Server REPS1_000049 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1670C>T r.(?) p.(Pro557Leu) g.139235868G>A Copied from the Exome Variant Server REPS1_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1705-54_1705-53del r.(=) p.(=) g.139234140_139234141del Copied from the Exome Variant Server REPS1_000047 4/12518 4/8254 0/4264 - - - - - - -
?/? c.1705-40T>C r.(=) p.(=) g.139234127A>G Copied from the Exome Variant Server REPS1_000046 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1705-25del r.(=) p.(=) g.139234112del Copied from the Exome Variant Server REPS1_000045 3/12518 3/8254 0/4264 - - - - - - -
?/? c.1705-24C>G r.(=) p.(=) g.139234111G>C Copied from the Exome Variant Server REPS1_000044 6/13006 6/8600 0/4406 - - - - - - -
?/? c.1705-7T>C r.(=) p.(=) g.139234094A>G Copied from the Exome Variant Server REPS1_000043 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1705-7_1705-6insCATT r.(=) p.(=) g.139234093_139234094insAATG Copied from the Exome Variant Server REPS1_000042 5/12518 5/8254 0/4264 - - - - - - -
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