All transcript variants in gene FANCL

Information The variants shown are described using the NM_018062.3 transcript reference sequence.

146 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     
?/? c.-45C>G r.(=) p.(=) g.58468493G>C Copied from the Exome Variant Server FANCL_000138 1/13000 1/8598 0/4402
?/? c.-39A>G r.(=) p.(=) g.58468487T>C Copied from the Exome Variant Server FANCL_000136 45/13006 3/8600 42/4406
?/? c.-35C>T r.(=) p.(=) g.58468483G>A Copied from the Exome Variant Server FANCL_000146 3/13006 3/8600 0/4406
?/? c.-34T>G r.(=) p.(=) g.58468482A>C Copied from the Exome Variant Server FANCL_000145 9/13006 0/8600 9/4406
?/? c.-30G>C r.(=) p.(=) g.58468478C>G Copied from the Exome Variant Server FANCL_000144 1/13006 1/8600 0/4406
?/? c.-26T>A r.(=) p.(=) g.58468474A>T Copied from the Exome Variant Server FANCL_000143 1/13006 0/8600 1/4406
?/? c.-21T>C r.(=) p.(=) g.58468469A>G Copied from the Exome Variant Server FANCL_000142 1/13006 1/8600 0/4406
?/? c.4G>T r.(?) p.(Ala2Ser) g.58468445C>A Copied from the Exome Variant Server FANCL_000141 1/13006 1/8600 0/4406
?/? c.20G>C r.(?) p.(Ser7Thr) g.58468429C>G Copied from the Exome Variant Server FANCL_000140 1/13006 1/8600 0/4406
?/? c.27G>A r.(=) p.(=) g.58468422C>T Copied from the Exome Variant Server FANCL_000139 1/13006 0/8600 1/4406
?/? c.28C>G r.(?) p.(Arg10Gly) g.58468421G>C Copied from the Exome Variant Server FANCL_000137 1/13006 1/8600 0/4406
?/? c.96+33G>A r.(=) p.(=) g.58468320C>T Copied from the Exome Variant Server FANCL_000135 1/13006 1/8600 0/4406
?/? c.96+40T>C r.(=) p.(=) g.58468313A>G Copied from the Exome Variant Server FANCL_000134 3/13006 3/8600 0/4406
?/? c.97-78_97-74del r.(=) p.(=) g.58459321_58459325del Copied from the Exome Variant Server FANCL_000133 4/12498 3/8240 1/4258
?/? c.97-22T>G r.(=) p.(=) g.58459269A>C Copied from the Exome Variant Server FANCL_000132 1/13006 0/8600 1/4406
?/? c.97-11A>G r.(=) p.(=) g.58459258T>C Copied from the Exome Variant Server FANCL_000131 2/13002 2/8598 0/4404
?/? c.108C>G r.(?) p.(Phe36Leu) g.58459236G>C Copied from the Exome Variant Server FANCL_000130 2/13004 2/8600 0/4404
?/? c.112C>T r.(?) p.(Leu38Phe) g.58459232G>A Copied from the Exome Variant Server FANCL_000129 47/13002 40/8600 7/4402
?/? c.142C>G r.(?) p.(Leu48Val) g.58459202G>C Copied from the Exome Variant Server FANCL_000128 1/13006 0/8600 1/4406
?/? c.150T>C r.(=) p.(=) g.58459194A>G Copied from the Exome Variant Server FANCL_000127 1/13006 0/8600 1/4406
?/? c.155+9G>C r.(=) p.(=) g.58459180C>G Copied from the Exome Variant Server FANCL_000126 2/13006 1/8600 1/4406
?/? c.155+25G>A r.(=) p.(=) g.58459164C>T Copied from the Exome Variant Server FANCL_000125 1/13006 1/8600 0/4406
?/? c.155+52G>A r.(=) p.(=) g.58459137C>T Copied from the Exome Variant Server FANCL_000124 3/10298 2/7162 1/3136
?/? c.156-30A>G r.(=) p.(=) g.58457039T>C Copied from the Exome Variant Server FANCL_000123 1/12962 0/8564 1/4398
?/? c.203G>C r.(?) p.(Arg68Pro) g.58456962C>G Copied from the Exome Variant Server FANCL_000121 12/12992 10/8588 2/4404
?/? c.206T>C r.(?) p.(Ile69Thr) g.58456959A>G Copied from the Exome Variant Server FANCL_000119 1/12990 0/8586 1/4404
?/? c.216+8C>G r.(=) p.(=) g.58456941G>C Copied from the Exome Variant Server FANCL_000117 1/12990 0/8588 1/4402
?/? c.216+36A>C r.(=) p.(=) g.58456913T>G Copied from the Exome Variant Server FANCL_000122 5/12984 4/8584 1/4400
?/? c.216+38A>G r.(=) p.(=) g.58456911T>C Copied from the Exome Variant Server FANCL_000120 1/12984 1/8584 0/4400
?/? c.217-64_217-63insT r.(=) p.(=) g.58453982_58453983insA Copied from the Exome Variant Server FANCL_000118 6/12476 2/8228 4/4248
?/? c.217-11T>C r.(=) p.(=) g.58453930A>G Copied from the Exome Variant Server FANCL_000116 991/13000 853/8594 138/4406
?/? c.217-4C>A r.spl? p.? g.58453923G>T Copied from the Exome Variant Server FANCL_000115 1/13002 0/8596 1/4406
?/? c.246C>G r.(?) p.(Ser82Arg) g.58453890G>C Copied from the Exome Variant Server FANCL_000114 3/13002 0/8596 3/4406
?/? c.273+1G>C r.spl? p.? g.58453862C>G Copied from the Exome Variant Server FANCL_000113 1/12998 0/8592 1/4406
?/? c.273+17del r.(=) p.(=) g.58453846del Copied from the Exome Variant Server FANCL_000112 1183/12510 609/8246 574/4264
?/? c.273+17dup r.(=) p.(=) g.58453846dup Copied from the Exome Variant Server FANCL_000111 3139/12510 2587/8246 552/4264
?/? c.273+17_273+18del r.(=) p.(=) g.58453845_58453846del Copied from the Exome Variant Server FANCL_000110 26/12510 14/8246 12/4264
?/? c.273+17_273+18dup r.(=) p.(=) g.58453845_58453846dup Copied from the Exome Variant Server FANCL_000109 122/12510 115/8246 7/4264
?/? c.273+17_273+19del r.(=) p.(=) g.58453844_58453846del Copied from the Exome Variant Server FANCL_000108 14/12510 7/8246 7/4264
?/? c.274-47A>T r.(=) p.(=) g.58449224T>A Copied from the Exome Variant Server FANCL_000107 1/13006 1/8600 0/4406
?/? c.274-37G>A r.(=) p.(=) g.58449214C>T Copied from the Exome Variant Server FANCL_000106 2/13006 1/8600 1/4406
?/? c.281C>T r.(?) p.(Ala94Val) g.58449170G>A Copied from the Exome Variant Server FANCL_000105 1/13006 1/8600 0/4406
?/? c.296_297del r.(?) p.(Gln99Argfs*17) g.58449154_58449155del Copied from the Exome Variant Server FANCL_000104 1/12518 0/8252 1/4266
?/? c.324C>G r.(=) p.(=) g.58449127G>C Copied from the Exome Variant Server FANCL_000103 1/13006 0/8600 1/4406
?/? c.343A>G r.(?) p.(Ile115Val) g.58449108T>C Copied from the Exome Variant Server FANCL_000102 3/13004 3/8600 0/4404
?/? c.374+35del r.(=) p.(=) g.58449042del Copied from the Exome Variant Server FANCL_000101 649/12512 559/8252 90/4260
?/? c.375-49C>G r.(=) p.(=) g.58431410G>C Copied from the Exome Variant Server FANCL_000100 1915/13006 829/8600 1086/4406
?/? c.375-43C>T r.(=) p.(=) g.58431404G>A Copied from the Exome Variant Server FANCL_000099 1/13006 0/8600 1/4406
?/? c.375-13_375-11del r.(=) p.(=) g.58431372_58431374del Copied from the Exome Variant Server FANCL_000098 1/12520 0/8254 1/4266
?/? c.375-11C>T r.(=) p.(=) g.58431372G>A Copied from the Exome Variant Server FANCL_000097 1/13006 0/8600 1/4406
?/? c.387G>A r.(=) p.(=) g.58431349C>T Copied from the Exome Variant Server FANCL_000096 4/13006 1/8600 3/4406
?/? c.392C>T r.(?) p.(Thr131Ile) g.58431344G>A Copied from the Exome Variant Server FANCL_000095 1/13006 1/8600 0/4406
?/? c.401G>T r.(?) p.(Ser134Ile) g.58431335C>A Copied from the Exome Variant Server FANCL_000094 2/13006 2/8600 0/4406
?/? c.402T>C r.(=) p.(=) g.58431334A>G Copied from the Exome Variant Server FANCL_000093 23/13006 0/8600 23/4406
?/? c.419C>T r.(?) p.(Ala140Val) g.58431317G>A Copied from the Exome Variant Server FANCL_000092 1/13006 0/8600 1/4406
?/? c.434G>T r.(?) p.(Gly145Val) g.58431302C>A Copied from the Exome Variant Server FANCL_000091 1/13006 1/8600 0/4406
?/? c.436A>G r.(?) p.(Arg146Gly) g.58431300T>C Copied from the Exome Variant Server FANCL_000090 1/13006 1/8600 0/4406
?/? c.471+9C>G r.(=) p.(=) g.58431256G>C Copied from the Exome Variant Server FANCL_000089 2/13006 0/8600 2/4406
?/? c.471+11C>T r.(=) p.(=) g.58431254G>A Copied from the Exome Variant Server FANCL_000088 3/13004 0/8598 3/4406
?/? c.471+12G>A r.(=) p.(=) g.58431253C>T Copied from the Exome Variant Server FANCL_000087 1/13004 0/8598 1/4406
?/? c.471+21T>C r.(=) p.(=) g.58431244A>G Copied from the Exome Variant Server FANCL_000086 1/13004 1/8598 0/4406
?/? c.472-15A>G r.(=) p.(=) g.58425812T>C Copied from the Exome Variant Server FANCL_000085 1/13006 1/8600 0/4406
?/? c.472-14T>C r.(=) p.(=) g.58425811A>G Copied from the Exome Variant Server FANCL_000084 1/13006 0/8600 1/4406
?/? c.493T>G r.(?) p.(Tyr165Asp) g.58425776A>C Copied from the Exome Variant Server FANCL_000083 1/13006 1/8600 0/4406
?/? c.524C>T r.(?) p.(Ala175Val) g.58425745G>A Copied from the Exome Variant Server FANCL_000082 2/13006 2/8600 0/4406
?/? c.534A>G r.(=) p.(=) g.58425735T>C Copied from the Exome Variant Server FANCL_000081 6/13006 6/8600 0/4406
?/? c.540+41A>G r.(=) p.(=) g.58425688T>C Copied from the Exome Variant Server FANCL_000078 7/12988 0/8594 7/4394
?/? c.541-55_541-53del r.(=) p.(=) g.58393062_58393064del Copied from the Exome Variant Server FANCL_000075 1/12500 0/8244 1/4256
?/? c.546C>T r.(=) p.(=) g.58393004G>A Copied from the Exome Variant Server FANCL_000072 4/13006 3/8600 1/4406
?/? c.621C>T r.(=) p.(=) g.58392929G>A Copied from the Exome Variant Server FANCL_000069 1/13006 1/8600 0/4406
?/? c.649G>C r.(?) p.(Glu217Gln) g.58392901C>G Copied from the Exome Variant Server FANCL_000066 1/13006 0/8600 1/4406
?/? c.670A>G r.(?) p.(Thr224Ala) g.58392880T>C Copied from the Exome Variant Server FANCL_000062 6/13006 6/8600 0/4406
?/? c.691+47G>A r.(=) p.(=) g.58392812C>T Copied from the Exome Variant Server FANCL_000059 2/13006 1/8600 1/4406
?/? c.692-27A>C r.(=) p.(=) g.58390679T>G Copied from the Exome Variant Server FANCL_000056 903/13002 815/8598 88/4404
?/? c.692-20T>G r.(=) p.(=) g.58390672A>C Copied from the Exome Variant Server FANCL_000052 1/13002 1/8598 0/4404
?/? c.692-15C>A r.(=) p.(=) g.58390667G>T Copied from the Exome Variant Server FANCL_000049 1/13002 0/8598 1/4404
?/? c.697_699del r.(?) p.(Asn233del) g.58390645_58390647del Copied from the Exome Variant Server FANCL_000046 1/12518 1/8254 0/4264
?/? c.755T>G r.(?) p.(Phe252Cys) g.58390589A>C Copied from the Exome Variant Server FANCL_000079 1/13006 0/8600 1/4406
?/? c.775+22C>T r.(=) p.(=) g.58390547G>A Copied from the Exome Variant Server FANCL_000076 2024/13006 867/8600 1157/4406
?/? c.775+27T>G r.(=) p.(=) g.58390542A>C Copied from the Exome Variant Server FANCL_000073 2/13006 0/8600 2/4406
?/? c.775+31A>G r.(=) p.(=) g.58390538T>C Copied from the Exome Variant Server FANCL_000070 1035/13006 854/8600 181/4406
?/? c.775+55G>C r.(=) p.(=) g.58390514C>G Copied from the Exome Variant Server FANCL_000067 75/4566 1/3182 74/1384
?/? c.776-42G>C r.(=) p.(=) g.58390251C>G Copied from the Exome Variant Server FANCL_000064 1/12338 1/8222 0/4116
?/? c.776-36C>T r.(=) p.(=) g.58390245G>A Copied from the Exome Variant Server FANCL_000061 1/12522 0/8314 1/4208
?/? c.776-11_776-10insTT r.(=) p.(=) g.58390219_58390220insAA Copied from the Exome Variant Server FANCL_000058 96/12118 41/8022 55/4096
?/? c.776-10del r.(=) p.(=) g.58390219del Copied from the Exome Variant Server FANCL_000055 514/12118 371/8022 143/4096
?/? c.776-10dup r.(=) p.(=) g.58390219dup Copied from the Exome Variant Server FANCL_000054 862/12118 197/8022 665/4096
?/? c.817T>C r.(=) p.(=) g.58390168A>G Copied from the Exome Variant Server FANCL_000050 23/12996 0/8590 23/4406
?/? c.821+32T>C r.(=) p.(=) g.58390132A>G Copied from the Exome Variant Server FANCL_000047 9/12994 0/8590 9/4404
?/? c.822-34G>C r.(=) p.(=) g.58390116C>G Copied from the Exome Variant Server FANCL_000045 1/12996 0/8590 1/4406
?/? c.822-29C>T r.(=) p.(=) g.58390111G>A Copied from the Exome Variant Server FANCL_000043 1/12996 0/8590 1/4406
?/? c.822-15_822-14insT r.(=) p.(=) g.58390096_58390097insA Copied from the Exome Variant Server FANCL_000041 11/12512 10/8246 1/4266
?/? c.844C>A r.(?) p.(Gln282Lys) g.58390060G>T Copied from the Exome Variant Server FANCL_000039 1/12998 1/8594 0/4404
?/? c.883C>T r.(?) p.(Arg295Cys) g.58390021G>A Copied from the Exome Variant Server FANCL_000037 1/13002 0/8598 1/4404
?/? c.894G>T r.(=) p.(=) g.58390010C>A Copied from the Exome Variant Server FANCL_000035 1/13000 1/8596 0/4404
?/? c.903+21G>C r.(=) p.(=) g.58389980C>G Copied from the Exome Variant Server FANCL_000033 1/12994 1/8592 0/4402
?/? c.903+32C>G r.(=) p.(=) g.58389969G>C Copied from the Exome Variant Server FANCL_000031 107/12984 96/8586 11/4398
?/? c.904-29C>T r.(=) p.(=) g.58388802G>A Copied from the Exome Variant Server FANCL_000029 1/12982 0/8586 1/4396
?/? c.904-22T>A r.(=) p.(=) g.58388795A>T Copied from the Exome Variant Server FANCL_000027 1/12984 1/8588 0/4396
?/? c.904-21A>G r.(=) p.(=) g.58388794T>C Copied from the Exome Variant Server FANCL_000025 1/12990 1/8592 0/4398
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