Full data view for gene CEP70

Information The variants shown are described using the NM_024491.2 transcript reference sequence.

114 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.-5-44A>G r.(=) p.(=) g.138291818T>C Copied from the Exome Variant Server CEP70_000114 9/13004 0/8600 9/4404 - - - - - - -
?/? c.-5-32G>A r.(=) p.(=) g.138291806C>T Copied from the Exome Variant Server CEP70_000113 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1A>G r.? p.? g.138291769T>C Copied from the Exome Variant Server CEP70_000112 1/13006 1/8600 0/4406 - - - - - - -
?/? c.9G>A r.(=) p.(=) g.138291761C>T Copied from the Exome Variant Server CEP70_000111 10/13006 8/8600 2/4406 - - - - - - -
?/? c.35G>A r.(?) p.(Ser12Asn) g.138291735C>T Copied from the Exome Variant Server CEP70_000110 94/13006 0/8600 94/4406 - - - - - - -
?/? c.69+60C>G r.(=) p.(=) g.138291641G>C Copied from the Exome Variant Server CEP70_000109 9/4566 0/3182 9/1384 - - - - - - -
?/? c.70-41A>G r.(=) p.(=) g.138290239T>C Copied from the Exome Variant Server CEP70_000108 2/12986 2/8582 0/4404 - - - - - - -
?/? c.70-39A>G r.(=) p.(=) g.138290237T>C Copied from the Exome Variant Server CEP70_000107 7/12986 7/8582 0/4404 - - - - - - -
?/? c.160+46T>C r.(=) p.(=) g.138290062A>G Copied from the Exome Variant Server CEP70_000106 74/12968 0/8578 74/4390 - - - - - - -
?/? c.161-45del r.(=) p.(=) g.138290044del Copied from the Exome Variant Server CEP70_000105 33/12346 21/8174 12/4172 - - - - - - -
?/? c.161-37A>G r.(=) p.(=) g.138290036T>C Copied from the Exome Variant Server CEP70_000104 4/12830 4/8534 0/4296 - - - - - - -
?/? c.161-19A>G r.(=) p.(=) g.138290018T>C Copied from the Exome Variant Server CEP70_000103 21/12936 0/8578 21/4358 - - - - - - -
?/? c.163C>T r.(?) p.(Leu55Phe) g.138289997G>A Copied from the Exome Variant Server CEP70_000102 1/12992 1/8590 0/4402 - - - - - - -
?/? c.177C>T r.(=) p.(=) g.138289983G>A Copied from the Exome Variant Server CEP70_000101 1/12996 1/8594 0/4402 - - - - - - -
?/? c.233_235del r.(?) p.(Ser78del) g.138289925_138289927del Copied from the Exome Variant Server CEP70_000100 2/12510 1/8244 1/4266 - - - - - - -
?/? c.284+38A>G r.(=) p.(=) g.138289838T>C Copied from the Exome Variant Server CEP70_000099 1/12994 1/8592 0/4402 - - - - - - -
?/? c.285-37A>C r.(=) p.(=) g.138289377T>G Copied from the Exome Variant Server CEP70_000098 3/13004 0/8598 3/4406 - - - - - - -
?/? c.285-10A>G r.(=) p.(=) g.138289350T>C Copied from the Exome Variant Server CEP70_000097 3/13006 0/8600 3/4406 - - - - - - -
?/? c.311G>A r.(?) p.(Arg104Gln) g.138289314C>T Copied from the Exome Variant Server CEP70_000096 1/13004 1/8600 0/4404 - - - - - - -
?/? c.313G>A r.(?) p.(Ala105Thr) g.138289312C>T Copied from the Exome Variant Server CEP70_000095 1/13004 1/8600 0/4404 - - - - - - -
?/? c.359A>G r.(?) p.(Glu120Gly) g.138289266T>C Copied from the Exome Variant Server CEP70_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.360A>G r.(=) p.(=) g.138289265T>C Copied from the Exome Variant Server CEP70_000092 1/13006 0/8600 1/4406 - - - - - - -
?/? c.377T>C r.(?) p.(Ile126Thr) g.138289248A>G Copied from the Exome Variant Server CEP70_000090 2/13000 0/8596 2/4404 - - - - - - -
?/? c.379G>C r.(?) p.(Gly127Arg) g.138289246C>G Copied from the Exome Variant Server CEP70_000088 1/13000 0/8596 1/4404 - - - - - - -
?/? c.404G>A r.(?) p.(Ser135Asn) g.138289221C>T Copied from the Exome Variant Server CEP70_000086 7368/13000 4739/8596 2629/4404 - - - - - - -
?/? c.462A>G r.(=) p.(=) g.138289163T>C Copied from the Exome Variant Server CEP70_000084 5706/13002 4534/8598 1172/4404 - - - - - - -
?/? c.465+25G>A r.(=) p.(=) g.138289135C>T Copied from the Exome Variant Server CEP70_000082 1/13004 0/8598 1/4406 - - - - - - -
?/? c.493C>T r.(?) p.(Arg165*) g.138256162G>A Copied from the Exome Variant Server CEP70_000080 2/13006 2/8600 0/4406 - - - - - - -
?/? c.498G>A r.(=) p.(=) g.138256157C>T Copied from the Exome Variant Server CEP70_000078 1/13004 0/8600 1/4404 - - - - - - -
?/? c.562G>A r.(?) p.(Asp188Asn) g.138256093C>T Copied from the Exome Variant Server CEP70_000093 1/13006 0/8600 1/4406 - - - - - - -
?/? c.610G>A r.(?) p.(Val204Ile) g.138256045C>T Copied from the Exome Variant Server CEP70_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.621C>T r.(=) p.(=) g.138256034G>A Copied from the Exome Variant Server CEP70_000089 8/13006 6/8600 2/4406 - - - - - - -
?/? c.622G>T r.(?) p.(Val208Phe) g.138256033C>A Copied from the Exome Variant Server CEP70_000087 4/13006 3/8600 1/4406 - - - - - - -
?/? c.635+2T>C r.spl? p.? g.138256018A>G Copied from the Exome Variant Server CEP70_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.635+39T>A r.(=) p.(=) g.138255981A>T Copied from the Exome Variant Server CEP70_000083 51/13006 0/8600 51/4406 - - - - - - -
?/? c.635+41G>A r.(=) p.(=) g.138255979C>T Copied from the Exome Variant Server CEP70_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.635+45T>C r.(=) p.(=) g.138255975A>G Copied from the Exome Variant Server CEP70_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.636-40_636-36del r.(=) p.(=) g.138251448_138251452del Copied from the Exome Variant Server CEP70_000077 4960/12250 3323/8058 1637/4192 - - - - - - -
?/? c.657C>T r.(=) p.(=) g.138251391G>A Copied from the Exome Variant Server CEP70_000076 2/12920 0/8538 2/4382 - - - - - - -
?/? c.692+13C>G r.(=) p.(=) g.138251343G>C Copied from the Exome Variant Server CEP70_000075 17/12932 0/8544 17/4388 - - - - - - -
?/? c.692+45T>C r.(=) p.(=) g.138251311A>G Copied from the Exome Variant Server CEP70_000074 31/12878 31/8514 0/4364 - - - - - - -
?/? c.693-60_693-57del r.(=) p.(=) g.138248361_138248364del Copied from the Exome Variant Server CEP70_000073 9/12482 0/8238 9/4244 - - - - - - -
?/? c.693-29A>G r.(=) p.(=) g.138248333T>C Copied from the Exome Variant Server CEP70_000072 1/12998 1/8592 0/4406 - - - - - - -
?/? c.718_721del r.(?) p.(Ser240Lysfs*19) g.138248276_138248279del Copied from the Exome Variant Server CEP70_000071 2/12516 2/8252 0/4264 - - - - - - -
?/? c.741A>T r.(?) p.(Arg247Ser) g.138248256T>A Copied from the Exome Variant Server CEP70_000070 3/13004 3/8598 0/4406 - - - - - - -
?/? c.765T>C r.(=) p.(=) g.138248232A>G Copied from the Exome Variant Server CEP70_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.770G>T r.(?) p.(Gly257Val) g.138248227C>A Copied from the Exome Variant Server CEP70_000068 3/13006 0/8600 3/4406 - - - - - - -
?/? c.780G>A r.(?) p.(Met260Ile) g.138248217C>T Copied from the Exome Variant Server CEP70_000067 1/13004 0/8598 1/4406 - - - - - - -
?/? c.780+36_780+38del r.(=) p.(=) g.138248179_138248181del Copied from the Exome Variant Server CEP70_000066 105/12518 10/8252 95/4266 - - - - - - -
?/? c.781-39C>T r.(=) p.(=) g.138248168G>A Copied from the Exome Variant Server CEP70_000065 36/13002 1/8596 35/4406 - - - - - - -
?/? c.843G>A r.(=) p.(=) g.138248067C>T Copied from the Exome Variant Server CEP70_000064 1/13006 0/8600 1/4406 - - - - - - -
?/? c.846C>G r.(?) p.(Asn282Lys) g.138248064G>C Copied from the Exome Variant Server CEP70_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.854A>C r.(?) p.(Lys285Thr) g.138248056T>G Copied from the Exome Variant Server CEP70_000062 3/13006 0/8600 3/4406 - - - - - - -
?/? c.869+1G>A r.spl? p.? g.138248040C>T Copied from the Exome Variant Server CEP70_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.869+7G>C r.(=) p.(=) g.138248034C>G Copied from the Exome Variant Server CEP70_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.870-35A>T r.(=) p.(=) g.138244441T>A Copied from the Exome Variant Server CEP70_000059 34/12938 0/8560 34/4378 - - - - - - -
?/? c.876G>A r.(=) p.(=) g.138244400C>T Copied from the Exome Variant Server CEP70_000058 5579/12976 3739/8578 1840/4398 - - - - - - -
?/? c.881A>G r.(?) p.(His294Arg) g.138244395T>C Copied from the Exome Variant Server CEP70_000057 4/12982 4/8582 0/4400 - - - - - - -
?/? c.902A>G r.(?) p.(Gln301Arg) g.138244374T>C Copied from the Exome Variant Server CEP70_000056 1/12992 0/8590 1/4402 - - - - - - -
?/? c.914A>G r.(?) p.(Lys305Arg) g.138244362T>C Copied from the Exome Variant Server CEP70_000055 1/12992 1/8590 0/4402 - - - - - - -
?/? c.918G>A r.(=) p.(=) g.138244358C>T Copied from the Exome Variant Server CEP70_000054 3/12986 0/8586 3/4400 - - - - - - -
?/? c.940G>A r.(?) p.(Val314Ile) g.138244336C>T Copied from the Exome Variant Server CEP70_000053 1/12994 1/8592 0/4402 - - - - - - -
?/? c.944+1G>C r.spl? p.? g.138244331C>G Copied from the Exome Variant Server CEP70_000052 3/12994 3/8592 0/4402 - - - - - - -
?/? c.944+5T>G r.spl? p.? g.138244327A>C Copied from the Exome Variant Server CEP70_000051 2/12988 2/8586 0/4402 - - - - - - -
?/? c.945-12del r.(=) p.(=) g.138227398del Copied from the Exome Variant Server CEP70_000050 4/12520 2/8254 2/4266 - - - - - - -
?/? c.986A>T r.(?) p.(Glu329Val) g.138227345T>A Copied from the Exome Variant Server CEP70_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1011T>C r.(=) p.(=) g.138227320A>G Copied from the Exome Variant Server CEP70_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1035C>T r.(=) p.(=) g.138227296G>A Copied from the Exome Variant Server CEP70_000047 6/13006 6/8600 0/4406 - - - - - - -
?/? c.1084C>G r.(?) p.(Pro362Ala) g.138224274G>C Copied from the Exome Variant Server CEP70_000046 12/13004 10/8598 2/4406 - - - - - - -
?/? c.1096G>C r.(?) p.(Val366Leu) g.138224262C>G Copied from the Exome Variant Server CEP70_000045 1/13002 0/8598 1/4404 - - - - - - -
?/? c.1121G>C r.(?) p.(Gly374Ala) g.138224237C>G Copied from the Exome Variant Server CEP70_000044 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1144G>A r.(?) p.(Asp382Asn) g.138224214C>T Copied from the Exome Variant Server CEP70_000043 30/13004 2/8598 28/4406 - - - - - - -
?/? c.1155A>T r.(?) p.(Gln385His) g.138224203T>A Copied from the Exome Variant Server CEP70_000042 4/13004 0/8598 4/4406 - - - - - - -
?/? c.1192A>C r.(?) p.(Met398Leu) g.138224166T>G Copied from the Exome Variant Server CEP70_000041 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1221+13C>G r.(=) p.(=) g.138224124G>C Copied from the Exome Variant Server CEP70_000040 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1221+15A>C r.(=) p.(=) g.138224122T>G Copied from the Exome Variant Server CEP70_000039 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1221+48A>G r.(=) p.(=) g.138224089T>C Copied from the Exome Variant Server CEP70_000038 5/13004 5/8598 0/4406 - - - - - - -
?/? c.1222-31A>G r.(=) p.(=) g.138219754T>C Copied from the Exome Variant Server CEP70_000037 7/12800 0/8500 7/4300 - - - - - - -
?/? c.1271T>A r.(?) p.(Leu424His) g.138219674A>T Copied from the Exome Variant Server CEP70_000036 133/13002 1/8596 132/4406 - - - - - - -
?/? c.1313A>G r.(?) p.(Glu438Gly) g.138219632T>C Copied from the Exome Variant Server CEP70_000035 1/13000 1/8594 0/4406 - - - - - - -
?/? c.1327A>G r.(?) p.(Ile443Val) g.138219618T>C Copied from the Exome Variant Server CEP70_000034 1/12998 0/8592 1/4406 - - - - - - -
?/? c.1337C>G r.(?) p.(Thr446Ser) g.138219608G>C Copied from the Exome Variant Server CEP70_000033 1/12996 0/8590 1/4406 - - - - - - -
?/? c.1368+1G>A r.spl? p.? g.138219576C>T Copied from the Exome Variant Server CEP70_000032 1/13002 1/8596 0/4406 - - - - - - -
?/? c.1368+10A>C r.(=) p.(=) g.138219567T>G Copied from the Exome Variant Server CEP70_000031 6/13004 0/8598 6/4406 - - - - - - -
?/? c.1369-28_1369-27del r.(=) p.(=) g.138219436_138219437del Copied from the Exome Variant Server CEP70_000030 681/12390 7/8222 674/4168 - - - - - - -
?/? c.1387T>C r.(?) p.(Phe463Leu) g.138219391A>G Copied from the Exome Variant Server CEP70_000029 8/13004 0/8600 8/4404 - - - - - - -
?/? c.1425G>A r.(=) p.(=) g.138219353C>T Copied from the Exome Variant Server CEP70_000028 80/13006 74/8600 6/4406 - - - - - - -
?/? c.1432G>C r.(?) p.(Asp478His) g.138219346C>G Copied from the Exome Variant Server CEP70_000027 5/13006 5/8600 0/4406 - - - - - - -
?/? c.1435G>T r.(?) p.(Val479Leu) g.138219343C>A Copied from the Exome Variant Server CEP70_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1473A>C r.(?) p.(Glu491Asp) g.138219305T>G Copied from the Exome Variant Server CEP70_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1489G>A r.(?) p.(Gly497Arg) g.138219289C>T Copied from the Exome Variant Server CEP70_000024 7/13006 0/8600 7/4406 - - - - - - -
?/? c.1526T>A r.(?) p.(Leu509His) g.138219252A>T Copied from the Exome Variant Server CEP70_000023 20/13006 18/8600 2/4406 - - - - - - -
?/? c.1537+11A>C r.(=) p.(=) g.138219230T>G Copied from the Exome Variant Server CEP70_000022 1/13004 0/8600 1/4404 - - - - - - -
?/? c.1538-20del r.(=) p.(=) g.138219086del Copied from the Exome Variant Server CEP70_000021 9/12514 5/8250 4/4264 - - - - - - -
?/? c.1538A>G r.(?) p.(Asp513Gly) g.138219066T>C Copied from the Exome Variant Server CEP70_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1548C>T r.(=) p.(=) g.138219056G>A Copied from the Exome Variant Server CEP70_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1556G>A r.(?) p.(Cys519Tyr) g.138219048C>T Copied from the Exome Variant Server CEP70_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1562T>C r.(?) p.(Leu521Pro) g.138219042A>G Copied from the Exome Variant Server CEP70_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1610A>G r.(?) p.(Asn537Ser) g.138218994T>C Copied from the Exome Variant Server CEP70_000015 1449/13006 201/8600 1248/4406 - - - - - - -
?/? c.1650G>A r.(=) p.(=) g.138218954C>T Copied from the Exome Variant Server CEP70_000013 1/13006 1/8600 0/4406 - - - - - - -
Legend   « First ‹ Prev     1 2     Next › Last »