Full data view for gene EED

Information The variants shown are described using the NM_003797.3 transcript reference sequence.

70 entries on 1 page. Showing entries 1 - 70.
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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.-43G>A r.(=) p.(=) g.85956229G>A Copied from the Exome Variant Server EED_000001 5/12982 5/8582 0/4400 - - - - - - -
?/? c.-22A>T r.(=) p.(=) g.85956250A>T Copied from the Exome Variant Server EED_000002 77/13000 3/8594 74/4406 - - - - - - -
?/? c.-6A>C r.(=) p.(=) g.85956266A>C Copied from the Exome Variant Server EED_000003 1/13004 0/8598 1/4406 - - - - - - -
?/? c.2T>C r.? p.? g.85956273T>C Copied from the Exome Variant Server EED_000004 1/13004 1/8598 0/4406 - - - - - - -
?/? c.16G>A r.(?) p.(Val6Met) g.85956287G>A Copied from the Exome Variant Server EED_000005 1/13004 1/8598 0/4406 - - - - - - -
?/? c.20C>T r.(?) p.(Ser7Leu) g.85956291C>T Copied from the Exome Variant Server EED_000006 2/13004 0/8598 2/4406 - - - - - - -
?/? c.25G>T r.(?) p.(Ala9Ser) g.85956296G>T Copied from the Exome Variant Server EED_000007 1/13004 1/8598 0/4406 - - - - - - -
?/? c.43A>G r.(?) p.(Met15Val) g.85956314A>G Copied from the Exome Variant Server EED_000008 1/13002 1/8596 0/4406 - - - - - - -
?/? c.47C>T r.(?) p.(Pro16Leu) g.85956318C>T Copied from the Exome Variant Server EED_000009 1/13002 1/8596 0/4406 - - - - - - -
?/? c.78C>T r.(=) p.(=) g.85956349C>T Copied from the Exome Variant Server EED_000010 1/13004 0/8598 1/4406 - - - - - - -
?/? c.89A>T r.(?) p.(Asn30Ile) g.85956360A>T Copied from the Exome Variant Server EED_000011 1/13004 1/8598 0/4406 - - - - - - -
?/? c.114+24C>G r.(=) p.(=) g.85956409C>G Copied from the Exome Variant Server EED_000012 1/13004 0/8598 1/4406 - - - - - - -
?/? c.115-43G>C r.(=) p.(=) g.85961295G>C Copied from the Exome Variant Server EED_000013 2/13004 1/8598 1/4406 - - - - - - -
?/? c.121G>A r.(?) p.(Ala41Thr) g.85961344G>A Copied from the Exome Variant Server EED_000014 1/13004 0/8598 1/4406 - - - - - - -
?/? c.148A>C r.(?) p.(Thr50Pro) g.85961371A>C Copied from the Exome Variant Server EED_000016 4/13004 4/8598 0/4406 - - - - - - -
?/? c.189T>C r.(=) p.(=) g.85961412T>C Copied from the Exome Variant Server EED_000019 1/13004 1/8598 0/4406 - - - - - - -
?/? c.198A>G r.(=) p.(=) g.85961421A>G Copied from the Exome Variant Server EED_000021 1/13004 1/8598 0/4406 - - - - - - -
?/? c.264C>T r.(=) p.(=) g.85961487C>T Copied from the Exome Variant Server EED_000023 1/13002 1/8598 0/4404 - - - - - - -
?/? c.267+20C>G r.(=) p.(=) g.85961510C>G Copied from the Exome Variant Server EED_000025 18/13002 16/8598 2/4404 - - - - - - -
?/? c.267+43A>T r.(=) p.(=) g.85961533A>T Copied from the Exome Variant Server EED_000027 1/13000 1/8598 0/4402 - - - - - - -
?/? c.267+46_267+49del r.(=) p.(=) g.85961536_85961539del Copied from the Exome Variant Server EED_000029 1/12516 0/8252 1/4264 - - - - - - -
?/? c.268-50C>G r.(=) p.(=) g.85963140C>G Copied from the Exome Variant Server EED_000030 1/12998 1/8594 0/4404 - - - - - - -
?/? c.268-43G>A r.(=) p.(=) g.85963147G>A Copied from the Exome Variant Server EED_000032 158/13000 5/8596 153/4404 - - - - - - -
?/? c.268-34A>T r.(=) p.(=) g.85963156A>T Copied from the Exome Variant Server EED_000035 1/13002 1/8598 0/4404 - - - - - - -
?/? c.268-8T>C r.(=) p.(=) g.85963182T>C Copied from the Exome Variant Server EED_000038 1/13002 0/8598 1/4404 - - - - - - -
?/? c.268-3T>C r.spl? p.? g.85963187T>C Copied from the Exome Variant Server EED_000015 3/13002 3/8598 0/4404 - - - - - - -
?/? c.282A>G r.(=) p.(=) g.85963204A>G Copied from the Exome Variant Server EED_000017 1/13002 0/8598 1/4404 - - - - - - -
?/? c.360+9T>C r.(=) p.(=) g.85963291T>C Copied from the Exome Variant Server EED_000018 1/13002 1/8598 0/4404 - - - - - - -
?/? c.360+12G>C r.(=) p.(=) g.85963294G>C Copied from the Exome Variant Server EED_000020 1/13002 0/8598 1/4404 - - - - - - -
?/? c.408A>G r.(=) p.(=) g.85966311A>G Copied from the Exome Variant Server EED_000022 1/12998 1/8594 0/4404 - - - - - - -
?/? c.426+24A>T r.(=) p.(=) g.85966353A>T Copied from the Exome Variant Server EED_000024 1/12996 1/8592 0/4404 - - - - - - -
?/? c.426+51A>G r.(=) p.(=) g.85966380A>G Copied from the Exome Variant Server EED_000026 2/12996 1/8592 1/4404 - - - - - - -
?/? c.427-28_427-27del r.(=) p.(=) g.85967401_85967402del Copied from the Exome Variant Server EED_000028 25/12518 18/8254 7/4264 - - - - - - -
?/? c.427-9A>T r.(=) p.(=) g.85967420A>T Copied from the Exome Variant Server EED_000031 1/13002 1/8598 0/4404 - - - - - - -
?/? c.532A>G r.(?) p.(Ile178Val) g.85967534A>G Copied from the Exome Variant Server EED_000033 4/13002 3/8598 1/4404 - - - - - - -
?/? c.552+27T>G r.(=) p.(=) g.85967581T>G Copied from the Exome Variant Server EED_000037 2/13000 2/8598 0/4402 - - - - - - -
?/? c.552+29T>G r.(=) p.(=) g.85967583T>G Copied from the Exome Variant Server EED_000040 1/13000 0/8598 1/4402 - - - - - - -
?/? c.552+47A>G r.(=) p.(=) g.85967601A>G Copied from the Exome Variant Server EED_000042 2/12996 2/8596 0/4400 - - - - - - -
?/? c.553-49T>A r.(=) p.(=) g.85968508T>A Copied from the Exome Variant Server EED_000044 5/12988 0/8588 5/4400 - - - - - - -
?/? c.558T>C r.(=) p.(=) g.85968562T>C Copied from the Exome Variant Server EED_000046 1/13002 1/8598 0/4404 - - - - - - -
?/? c.577A>G r.(?) p.(Ile193Val) g.85968581A>G Copied from the Exome Variant Server EED_000048 2/13002 2/8598 0/4404 - - - - - - -
?/? c.619C>T r.(=) p.(=) g.85968623C>T Copied from the Exome Variant Server EED_000050 4218/13002 3430/8598 788/4404 - - - - - - -
?/? c.635-37_635-34del r.(=) p.(=) g.85975177_85975180del Copied from the Exome Variant Server EED_000052 5/12518 5/8254 0/4264 - - - - - - -
?/? c.649T>C r.(=) p.(=) g.85975228T>C Copied from the Exome Variant Server EED_000054 2/13002 1/8598 1/4404 - - - - - - -
?/? c.651A>G r.(=) p.(=) g.85975230A>G Copied from the Exome Variant Server EED_000056 1/13002 1/8598 0/4404 - - - - - - -
?/? c.726T>C r.(=) p.(=) g.85975305T>C Copied from the Exome Variant Server EED_000058 1/13002 1/8598 0/4404 - - - - - - -
?/? c.726+6del r.(=) p.(=) g.85975311del Copied from the Exome Variant Server EED_000060 2/12518 0/8254 2/4264 - - - - - - -
?/? c.726+32A>T r.(=) p.(=) g.85975337A>T Copied from the Exome Variant Server EED_000062 474/13002 379/8598 95/4404 - - - - - - -
?/? c.726+35T>C r.(=) p.(=) g.85975340T>C Copied from the Exome Variant Server EED_000064 1/13002 1/8598 0/4404 - - - - - - -
?/? c.726+45_726+46del r.(=) p.(=) g.85975350_85975351del Copied from the Exome Variant Server EED_000066 35/12518 0/8254 35/4264 - - - - - - -
?/? c.727-8G>A r.(=) p.(=) g.85977117G>A Copied from the Exome Variant Server EED_000034 10616/12972 7094/8568 3522/4404 - - - - - - -
?/? c.727-6A>G r.(=) p.(=) g.85977119A>G Copied from the Exome Variant Server EED_000036 2/12972 2/8568 0/4404 - - - - - - -
?/? c.797A>G r.(?) p.(Asn266Ser) g.85977195A>G Copied from the Exome Variant Server EED_000039 3/12976 2/8572 1/4404 - - - - - - -
?/? c.820A>G r.(?) p.(Ile274Val) g.85977218A>G Copied from the Exome Variant Server EED_000041 1/12970 1/8566 0/4404 - - - - - - -
?/? c.951T>C r.(=) p.(=) g.85979588T>C Copied from the Exome Variant Server EED_000043 1/13002 1/8598 0/4404 - - - - - - -
?/? c.966+13C>T r.(=) p.(=) g.85979616C>T Copied from the Exome Variant Server EED_000045 1/13002 1/8598 0/4404 - - - - - - -
?/? c.966+19A>C r.(=) p.(=) g.85979622A>C Copied from the Exome Variant Server EED_000047 3/13002 3/8598 0/4404 - - - - - - -
?/? c.966+22T>C r.(=) p.(=) g.85979625T>C Copied from the Exome Variant Server EED_000049 1/13002 1/8598 0/4404 - - - - - - -
?/? c.967-42C>T r.(=) p.(=) g.85987980C>T Copied from the Exome Variant Server EED_000051 83/12994 77/8592 6/4402 - - - - - - -
?/? c.969T>A r.(=) p.(=) g.85988024T>A Copied from the Exome Variant Server EED_000053 7/13002 0/8598 7/4404 - - - - - - -
?/? c.987G>A r.(=) p.(=) g.85988042G>A Copied from the Exome Variant Server EED_000055 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1125+36C>G r.(=) p.(=) g.85988216C>G Copied from the Exome Variant Server EED_000057 1/13002 0/8598 1/4404 - - - - - - -
?/? c.1125+46A>C r.(=) p.(=) g.85988226A>C Copied from the Exome Variant Server EED_000059 70/13000 63/8598 7/4402 - - - - - - -
?/? c.1126-6A>G r.(=) p.(=) g.85988954A>G Copied from the Exome Variant Server EED_000061 1/12994 0/8592 1/4402 - - - - - - -
?/? c.1199+6_1199+9del r.(=) p.(=) g.85989039_85989042del Copied from the Exome Variant Server EED_000063 36/12514 1/8250 35/4264 - - - - - - -
?/? c.1200-43C>T r.(=) p.(=) g.85989398C>T Copied from the Exome Variant Server EED_000065 2/13002 1/8598 1/4404 - - - - - - -
?/? c.1200-42G>A r.(=) p.(=) g.85989399G>A Copied from the Exome Variant Server EED_000067 2/13002 1/8598 1/4404 - - - - - - -
?/? c.1200-23C>G r.(=) p.(=) g.85989418C>G Copied from the Exome Variant Server EED_000068 1/13002 0/8598 1/4404 - - - - - - -
?/? c.1275T>C r.(=) p.(=) g.85989516T>C Copied from the Exome Variant Server EED_000069 5/13002 0/8598 5/4404 - - - - - - -
?/? c.*6T>C r.(=) p.(=) g.85989573T>C Copied from the Exome Variant Server EED_000070 1/13000 1/8598 0/4402 - - - - - - -
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