Full data view for gene ACTR8

Information The variants shown are described using the NM_022899.4 transcript reference sequence.

122 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

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.-35C>G r.(=) p.(=) g.53916163G>C Copied from the Exome Variant Server ACTR8_000116 1/9846 0/6376 1/3470 - - - - - - -
?/? c.-26G>C r.(=) p.(=) g.53916154C>G Copied from the Exome Variant Server ACTR8_000114 3/10124 1/6556 2/3568 - - - - - - -
?/? c.-19G>T r.(=) p.(=) g.53916147C>A Copied from the Exome Variant Server ACTR8_000122 201/10310 3/6708 198/3602 - - - - - - -
?/? c.-3A>G r.(=) p.(=) g.53916131T>C Copied from the Exome Variant Server ACTR8_000121 1/10878 1/7112 0/3766 - - - - - - -
?/? c.-2T>C r.(=) p.(=) g.53916130A>G Copied from the Exome Variant Server ACTR8_000120 3229/10912 1912/7134 1317/3778 - - - - - - -
?/? c.27G>A r.(=) p.(=) g.53916102C>T Copied from the Exome Variant Server ACTR8_000119 17/11814 0/7790 17/4024 - - - - - - -
?/? c.48C>T r.(=) p.(=) g.53916081G>A Copied from the Exome Variant Server ACTR8_000118 557/12202 7/8042 550/4160 - - - - - - -
?/? c.51C>T r.(=) p.(=) g.53916078G>A Copied from the Exome Variant Server ACTR8_000117 64/12240 55/8074 9/4166 - - - - - - -
?/? c.107C>T r.(?) p.(Pro36Leu) g.53916022G>A Copied from the Exome Variant Server ACTR8_000115 1/12704 1/8400 0/4304 - - - - - - -
?/? c.123+24C>T r.(=) p.(=) g.53915982G>A Copied from the Exome Variant Server ACTR8_000113 2/12738 0/8426 2/4312 - - - - - - -
?/? c.124-17A>G r.(=) p.(=) g.53914153T>C Copied from the Exome Variant Server ACTR8_000112 1/13006 1/8600 0/4406 - - - - - - -
?/? c.165A>G r.(=) p.(=) g.53914095T>C Copied from the Exome Variant Server ACTR8_000111 1/13006 1/8600 0/4406 - - - - - - -
?/? c.167C>T r.(?) p.(Thr56Ile) g.53914093G>A Copied from the Exome Variant Server ACTR8_000110 731/13006 256/8600 475/4406 - - - - - - -
?/? c.220G>A r.(?) p.(Val74Ile) g.53914040C>T Copied from the Exome Variant Server ACTR8_000109 2/13006 2/8600 0/4406 - - - - - - -
?/? c.229C>T r.(?) p.(Arg77*) g.53914031G>A Copied from the Exome Variant Server ACTR8_000108 1/13006 0/8600 1/4406 - - - - - - -
?/? c.251A>C r.(?) p.(Gln84Pro) g.53914009T>G Copied from the Exome Variant Server ACTR8_000107 1/13006 1/8600 0/4406 - - - - - - -
?/? c.263del r.(?) p.(Lys88Argfs*6) g.53913997del Copied from the Exome Variant Server ACTR8_000106 7/12520 7/8254 0/4266 - - - - - - -
?/? c.294+13C>T r.(=) p.(=) g.53913953G>A Copied from the Exome Variant Server ACTR8_000105 1/13006 1/8600 0/4406 - - - - - - -
?/? c.294+42C>G r.(=) p.(=) g.53913924G>C Copied from the Exome Variant Server ACTR8_000104 2/13006 2/8600 0/4406 - - - - - - -
?/? c.295-24G>C r.(=) p.(=) g.53912518C>G Copied from the Exome Variant Server ACTR8_000103 23/13006 0/8600 23/4406 - - - - - - -
?/? c.295-21C>T r.(=) p.(=) g.53912515G>A Copied from the Exome Variant Server ACTR8_000102 1/13006 1/8600 0/4406 - - - - - - -
?/? c.371A>G r.(?) p.(Asn124Ser) g.53912418T>C Copied from the Exome Variant Server ACTR8_000101 2/13006 0/8600 2/4406 - - - - - - -
?/? c.382C>T r.(?) p.(Arg128Cys) g.53912407G>A Copied from the Exome Variant Server ACTR8_000100 1/13006 1/8600 0/4406 - - - - - - -
?/? c.393G>A r.(=) p.(=) g.53912396C>T Copied from the Exome Variant Server ACTR8_000099 89/13006 78/8600 11/4406 - - - - - - -
?/? c.405+4C>T r.spl? p.? g.53912380G>A Copied from the Exome Variant Server ACTR8_000098 532/13006 428/8600 104/4406 - - - - - - -
?/? c.405+43G>T r.(=) p.(=) g.53912341C>A Copied from the Exome Variant Server ACTR8_000097 6944/13006 3725/8600 3219/4406 - - - - - - -
?/? c.405+48C>G r.(=) p.(=) g.53912336G>C Copied from the Exome Variant Server ACTR8_000096 44/13006 0/8600 44/4406 - - - - - - -
?/? c.406-45G>A r.(=) p.(=) g.53911823C>T Copied from the Exome Variant Server ACTR8_000095 34/12962 27/8592 7/4370 - - - - - - -
?/? c.406-16T>C r.(=) p.(=) g.53911794A>G Copied from the Exome Variant Server ACTR8_000094 1/13006 0/8600 1/4406 - - - - - - -
?/? c.406-7T>G r.(=) p.(=) g.53911785A>C Copied from the Exome Variant Server ACTR8_000093 27/13006 22/8600 5/4406 - - - - - - -
?/? c.406-5T>C r.spl? p.? g.53911783A>G Copied from the Exome Variant Server ACTR8_000092 740/13006 259/8600 481/4406 - - - - - - -
?/? c.410G>A r.(?) p.(Arg137His) g.53911774C>T Copied from the Exome Variant Server ACTR8_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.461del r.(?) p.(Asn154Ilefs*13) g.53911723del Copied from the Exome Variant Server ACTR8_000090 1/12520 1/8254 0/4266 - - - - - - -
?/? c.469A>G r.(?) p.(Thr157Ala) g.53911715T>C Copied from the Exome Variant Server ACTR8_000089 2/13006 2/8600 0/4406 - - - - - - -
?/? c.510+17C>T r.(=) p.(=) g.53911657G>A Copied from the Exome Variant Server ACTR8_000088 14/13006 1/8600 13/4406 - - - - - - -
?/? c.511-30A>G r.(=) p.(=) g.53911444T>C Copied from the Exome Variant Server ACTR8_000087 1/13000 1/8600 0/4400 - - - - - - -
?/? c.511G>T r.(?) p.(Ala171Ser) g.53911414C>A Copied from the Exome Variant Server ACTR8_000086 1/13006 1/8600 0/4406 - - - - - - -
?/? c.525T>C r.(=) p.(=) g.53911400A>G Copied from the Exome Variant Server ACTR8_000085 9/13006 0/8600 9/4406 - - - - - - -
?/? c.542A>G r.(?) p.(Asn181Ser) g.53911383T>C Copied from the Exome Variant Server ACTR8_000084 4/13006 1/8600 3/4406 - - - - - - -
?/? c.549C>A r.(?) p.(His183Gln) g.53911376G>T Copied from the Exome Variant Server ACTR8_000083 2/13006 0/8600 2/4406 - - - - - - -
?/? c.561A>C r.(?) p.(Arg187Ser) g.53911364T>G Copied from the Exome Variant Server ACTR8_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.684+4A>G r.spl? p.? g.53911237T>C Copied from the Exome Variant Server ACTR8_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.693A>G r.(=) p.(=) g.53910732T>C Copied from the Exome Variant Server ACTR8_000080 1/12952 1/8556 0/4396 - - - - - - -
?/? c.699C>A r.(=) p.(=) g.53910726G>T Copied from the Exome Variant Server ACTR8_000079 17/12960 15/8566 2/4394 - - - - - - -
?/? c.709C>A r.(?) p.(Pro237Thr) g.53910716G>T Copied from the Exome Variant Server ACTR8_000078 1/12976 0/8576 1/4400 - - - - - - -
?/? c.733G>T r.(?) p.(Val245Leu) g.53910692C>A Copied from the Exome Variant Server ACTR8_000077 2/12992 2/8590 0/4402 - - - - - - -
?/? c.775_776insT r.(?) p.(Ser259Phefs*55) g.53910649_53910650insA Copied from the Exome Variant Server ACTR8_000075 1/12498 0/8244 1/4254 - - - - - - -
?/? c.777A>G r.(=) p.(=) g.53910648T>C Copied from the Exome Variant Server ACTR8_000073 1/12986 1/8590 0/4396 - - - - - - -
?/? c.778+3A>G r.spl? p.? g.53910644T>C Copied from the Exome Variant Server ACTR8_000071 1/12986 0/8590 1/4396 - - - - - - -
?/? c.778+14C>G r.(=) p.(=) g.53910633G>C Copied from the Exome Variant Server ACTR8_000069 505/12982 421/8586 84/4396 - - - - - - -
?/? c.779-45G>A r.(=) p.(=) g.53910152C>T Copied from the Exome Variant Server ACTR8_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.779-39C>A r.(=) p.(=) g.53910146G>T Copied from the Exome Variant Server ACTR8_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.779-27A>G r.(=) p.(=) g.53910134T>C Copied from the Exome Variant Server ACTR8_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.779-17_779-15del r.(=) p.(=) g.53910122_53910124del Copied from the Exome Variant Server ACTR8_000074 63/12520 16/8254 47/4266 - - - - - - -
?/? c.779-16_779-15del r.(=) p.(=) g.53910122_53910123del Copied from the Exome Variant Server ACTR8_000072 4146/12520 2476/8254 1670/4266 - - - - - - -
?/? c.779-15del r.(=) p.(=) g.53910122del Copied from the Exome Variant Server ACTR8_000070 2497/12520 1103/8254 1394/4266 - - - - - - -
?/? c.779-15_779-14del r.(=) p.(=) g.53910121_53910122del Copied from the Exome Variant Server ACTR8_000068 6032/12520 3297/8254 2735/4266 - - - - - - -
?/? c.779-15_779-13del r.(=) p.(=) g.53910120_53910122del Copied from the Exome Variant Server ACTR8_000066 4777/12520 2703/8254 2074/4266 - - - - - - -
?/? c.779-8C>G r.(=) p.(=) g.53910115G>C Copied from the Exome Variant Server ACTR8_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.779-6_779-5insG r.spl? p.? g.53910112_53910113insC Copied from the Exome Variant Server ACTR8_000063 20/12520 4/8254 16/4266 - - - - - - -
?/? c.779-5_779-4insA r.spl? p.? g.53910111_53910112insT Copied from the Exome Variant Server ACTR8_000062 2/12520 0/8254 2/4266 - - - - - - -
?/? c.779-4dup r.spl? p.? g.53910111dup Copied from the Exome Variant Server ACTR8_000061 5691/12520 3300/8254 2391/4266 - - - - - - -
?/? c.779-4_779-3insG r.spl? p.? g.53910110_53910111insC Copied from the Exome Variant Server ACTR8_000060 15/12520 1/8254 14/4266 - - - - - - -
?/? c.779-3dup r.spl? p.? g.53910110dup Copied from the Exome Variant Server ACTR8_000059 5673/12520 3297/8254 2376/4266 - - - - - - -
?/? c.779-3_779-2insC r.spl? p.? g.53910109_53910110insG Copied from the Exome Variant Server ACTR8_000056 5547/12520 3250/8254 2297/4266 - - - - - - -
?/? c.779-3_779-2insCC r.spl? p.? g.53910109_53910110insGG Copied from the Exome Variant Server ACTR8_000058 108/12520 40/8254 68/4266 - - - - - - -
?/? c.779-3_779-2insCCC r.spl? p.? g.53910109_53910110insGGG Copied from the Exome Variant Server ACTR8_000057 22/12520 2/8254 20/4266 - - - - - - -
?/? c.779-2dup r.spl? p.? g.53910109dup Copied from the Exome Variant Server ACTR8_000055 3/12520 0/8254 3/4266 - - - - - - -
?/? c.849C>T r.(=) p.(=) g.53910037G>A Copied from the Exome Variant Server ACTR8_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.871G>A r.(?) p.(Val291Ile) g.53910015C>T Copied from the Exome Variant Server ACTR8_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.873A>G r.(=) p.(=) g.53910013T>C Copied from the Exome Variant Server ACTR8_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.911+23T>C r.(=) p.(=) g.53909952A>G Copied from the Exome Variant Server ACTR8_000051 519/13006 433/8600 86/4406 - - - - - - -
?/? c.911+27_911+28del r.(=) p.(=) g.53909947_53909948del Copied from the Exome Variant Server ACTR8_000050 2/12520 2/8254 0/4266 - - - - - - -
?/? c.911+48T>C r.(=) p.(=) g.53909927A>G Copied from the Exome Variant Server ACTR8_000049 28/13006 1/8600 27/4406 - - - - - - -
?/? c.912-52del r.(=) p.(=) g.53908443del Copied from the Exome Variant Server ACTR8_000048 3/12520 0/8254 3/4266 - - - - - - -
?/? c.912-10T>G r.(=) p.(=) g.53908401A>C Copied from the Exome Variant Server ACTR8_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.927C>T r.(=) p.(=) g.53908376G>A Copied from the Exome Variant Server ACTR8_000046 3/13006 1/8600 2/4406 - - - - - - -
?/? c.955T>G r.(?) p.(Tyr319Asp) g.53908348A>C Copied from the Exome Variant Server ACTR8_000045 13/13006 11/8600 2/4406 - - - - - - -
?/? c.1040A>C r.(?) p.(Lys347Thr) g.53908263T>G Copied from the Exome Variant Server ACTR8_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1059A>G r.(=) p.(=) g.53908244T>C Copied from the Exome Variant Server ACTR8_000043 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1066-26C>T r.(=) p.(=) g.53907180G>A Copied from the Exome Variant Server ACTR8_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1066-16C>G r.(=) p.(=) g.53907170G>C Copied from the Exome Variant Server ACTR8_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1155A>G r.(=) p.(=) g.53907065T>C Copied from the Exome Variant Server ACTR8_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1162G>T r.(?) p.(Ala388Ser) g.53906551C>A Copied from the Exome Variant Server ACTR8_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1185C>T r.(=) p.(=) g.53906528G>A Copied from the Exome Variant Server ACTR8_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1186G>A r.(?) p.(Ala396Thr) g.53906527C>T Copied from the Exome Variant Server ACTR8_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1189A>G r.(?) p.(Thr397Ala) g.53906524T>C Copied from the Exome Variant Server ACTR8_000036 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1200C>T r.(=) p.(=) g.53906513G>A Copied from the Exome Variant Server ACTR8_000035 6725/13006 3769/8600 2956/4406 - - - - - - -
?/? c.1217C>T r.(?) p.(Thr406Met) g.53906496G>A Copied from the Exome Variant Server ACTR8_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1252G>A r.(?) p.(Asp418Asn) g.53906461C>T Copied from the Exome Variant Server ACTR8_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1279G>T r.(?) p.(Ala427Ser) g.53906434C>A Copied from the Exome Variant Server ACTR8_000032 24/13006 0/8600 24/4406 - - - - - - -
?/? c.1302+4C>T r.spl? p.? g.53906407G>A Copied from the Exome Variant Server ACTR8_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1302+13T>A r.(=) p.(=) g.53906398A>T Copied from the Exome Variant Server ACTR8_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1303-25A>G r.(=) p.(=) g.53905548T>C Copied from the Exome Variant Server ACTR8_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1338C>T r.(=) p.(=) g.53905488G>A Copied from the Exome Variant Server ACTR8_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1346T>C r.(?) p.(Ile449Thr) g.53905480A>G Copied from the Exome Variant Server ACTR8_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1368T>C r.(=) p.(=) g.53905458A>G Copied from the Exome Variant Server ACTR8_000025 13/13006 11/8600 2/4406 - - - - - - -
?/? c.1398C>T r.(=) p.(=) g.53905428G>A Copied from the Exome Variant Server ACTR8_000023 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1423T>A r.(?) p.(Ser475Thr) g.53905403A>T Copied from the Exome Variant Server ACTR8_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1434A>T r.(=) p.(=) g.53905392T>A Copied from the Exome Variant Server ACTR8_000019 1/13006 0/8600 1/4406 - - - - - - -
Legend   « First ‹ Prev     1 2     Next › Last »