Full data view for gene AAED1

Information The variants shown are described using the NM_153698.1 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
Legend  

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.193-52G>T r.(=) p.(=) g.99417107C>A Copied from the Exome Variant Server AAED1_000050 1/7272 1/4618 0/2654 - - - - - - -
?/? c.193-30_193-29insA r.(=) p.(=) g.99417084_99417085insT Copied from the Exome Variant Server AAED1_000049 13/12350 0/8154 13/4196 - - - - - - -
?/? c.193-23C>G r.(=) p.(=) g.99417078G>C Copied from the Exome Variant Server AAED1_000048 1/12890 0/8528 1/4362 - - - - - - -
?/? c.193-19C>T r.(=) p.(=) g.99417074G>A Copied from the Exome Variant Server AAED1_000047 1/12902 1/8534 0/4368 - - - - - - -
?/? c.212G>A r.(?) p.(Cys71Tyr) g.99417036C>T Copied from the Exome Variant Server AAED1_000045 1/12972 0/8580 1/4392 - - - - - - -
?/? c.248G>A r.(?) p.(Arg83Lys) g.99417000C>T Copied from the Exome Variant Server AAED1_000043 1125/12966 16/8574 1109/4392 - - - - - - -
?/? c.261+5G>A r.spl? p.? g.99416982C>T Copied from the Exome Variant Server AAED1_000041 1/12930 0/8548 1/4382 - - - - - - -
?/? c.261+27G>A r.(=) p.(=) g.99416960C>T Copied from the Exome Variant Server AAED1_000039 378/12818 4/8470 374/4348 - - - - - - -
?/? c.262-47A>T r.(=) p.(=) g.99414041T>A Copied from the Exome Variant Server AAED1_000046 1/12984 0/8580 1/4404 - - - - - - -
?/? c.262-44C>T r.(=) p.(=) g.99414038G>A Copied from the Exome Variant Server AAED1_000044 2/12984 0/8580 2/4404 - - - - - - -
?/? c.262-50_262-40del r.(=) p.(=) g.99414034_99414044del Copied from the Exome Variant Server AAED1_000042 91/12492 2/8232 89/4260 - - - - - - -
?/? c.262-34A>G r.(=) p.(=) g.99414028T>C Copied from the Exome Variant Server AAED1_000040 1/12984 1/8580 0/4404 - - - - - - -
?/? c.272T>C r.(?) p.(Val91Ala) g.99413984A>G Copied from the Exome Variant Server AAED1_000038 1/13000 1/8594 0/4406 - - - - - - -
?/? c.315+9C>A r.(=) p.(=) g.99413932G>T Copied from the Exome Variant Server AAED1_000037 1/13000 1/8594 0/4406 - - - - - - -
?/? c.315+16A>G r.(=) p.(=) g.99413925T>C Copied from the Exome Variant Server AAED1_000036 1/13000 1/8594 0/4406 - - - - - - -
?/? c.315+17T>C r.(=) p.(=) g.99413924A>G Copied from the Exome Variant Server AAED1_000035 2233/13000 25/8594 2208/4406 - - - - - - -
?/? c.315+48A>G r.(=) p.(=) g.99413893T>C Copied from the Exome Variant Server AAED1_000034 1/12988 1/8586 0/4402 - - - - - - -
?/? c.316-15A>G r.(=) p.(=) g.99413792T>C Copied from the Exome Variant Server AAED1_000033 3/13006 0/8600 3/4406 - - - - - - -
?/? c.316-10C>G r.(=) p.(=) g.99413787G>C Copied from the Exome Variant Server AAED1_000032 2/13006 0/8600 2/4406 - - - - - - -
?/? c.316-8_316-7del r.(=) p.(=) g.99413784_99413785del Copied from the Exome Variant Server AAED1_000031 6/12518 2/8254 4/4264 - - - - - - -
?/? c.352T>A r.(?) p.(Tyr118Asn) g.99413741A>T Copied from the Exome Variant Server AAED1_000030 1/13004 1/8598 0/4406 - - - - - - -
?/? c.354T>C r.(=) p.(=) g.99413739A>G Copied from the Exome Variant Server AAED1_000029 1/13004 0/8598 1/4406 - - - - - - -
?/? c.421+3A>G r.spl? p.? g.99413669T>C Copied from the Exome Variant Server AAED1_000028 1/13002 1/8600 0/4402 - - - - - - -
?/? c.421+34G>C r.(=) p.(=) g.99413638C>G Copied from the Exome Variant Server AAED1_000027 5/13000 0/8600 5/4400 - - - - - - -
?/? c.422-32A>G r.(=) p.(=) g.99408338T>C Copied from the Exome Variant Server AAED1_000026 35/13006 1/8600 34/4406 - - - - - - -
?/? c.422-11C>T r.(=) p.(=) g.99408317G>A Copied from the Exome Variant Server AAED1_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.422-10G>A r.(=) p.(=) g.99408316C>T Copied from the Exome Variant Server AAED1_000024 242/13006 5/8600 237/4406 - - - - - - -
?/? c.422-2A>G r.spl? p.? g.99408308T>C Copied from the Exome Variant Server AAED1_000023 2/13006 2/8600 0/4406 - - - - - - -
?/? c.462C>T r.(=) p.(=) g.99408266G>A Copied from the Exome Variant Server AAED1_000022 36/13006 1/8600 35/4406 - - - - - - -
?/? c.472C>T r.(=) p.(=) g.99408256G>A Copied from the Exome Variant Server AAED1_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.479G>A r.(?) p.(Arg160Gln) g.99408249C>T Copied from the Exome Variant Server AAED1_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.517C>G r.(?) p.(Pro173Ala) g.99408211G>C Copied from the Exome Variant Server AAED1_000019 2/13006 2/8600 0/4406 - - - - - - -
?/? c.547G>C r.(?) p.(Gly183Arg) g.99408181C>G Copied from the Exome Variant Server AAED1_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.553+15C>T r.(=) p.(=) g.99408160G>A Copied from the Exome Variant Server AAED1_000017 50/13006 0/8600 50/4406 - - - - - - -
?/? c.553+23A>G r.(=) p.(=) g.99408152T>C Copied from the Exome Variant Server AAED1_000016 347/13006 314/8600 33/4406 - - - - - - -
?/? c.553+46T>C r.(=) p.(=) g.99408129A>G Copied from the Exome Variant Server AAED1_000015 10/13006 0/8600 10/4406 - - - - - - -
?/? c.554-23C>A r.(=) p.(=) g.99404191G>T Copied from the Exome Variant Server AAED1_000014 60/13006 0/8600 60/4406 - - - - - - -
?/? c.577C>T r.(?) p.(Arg193Cys) g.99404145G>A Copied from the Exome Variant Server AAED1_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.579C>T r.(=) p.(=) g.99404143G>A Copied from the Exome Variant Server AAED1_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.581A>T r.(?) p.(Asp194Val) g.99404141T>A Copied from the Exome Variant Server AAED1_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.582T>C r.(=) p.(=) g.99404140A>G Copied from the Exome Variant Server AAED1_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.589A>T r.(?) p.(Arg197Trp) g.99404133T>A Copied from the Exome Variant Server AAED1_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.591G>T r.(?) p.(Arg197Ser) g.99404131C>A Copied from the Exome Variant Server AAED1_000008 14/13006 13/8600 1/4406 - - - - - - -
?/? c.598C>G r.(?) p.(His200Asp) g.99404124G>C Copied from the Exome Variant Server AAED1_000007 6/13006 5/8600 1/4406 - - - - - - -
?/? c.607A>G r.(?) p.(Ile203Val) g.99404115T>C Copied from the Exome Variant Server AAED1_000006 4/13006 4/8600 0/4406 - - - - - - -
?/? c.634G>A r.(?) p.(Val212Ile) g.99404088C>T Copied from the Exome Variant Server AAED1_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.653C>T r.(?) p.(Thr218Ile) g.99404069G>A Copied from the Exome Variant Server AAED1_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.659G>A r.(?) p.(Arg220Lys) g.99404063C>T Copied from the Exome Variant Server AAED1_000003 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*1C>T r.(=) p.(=) g.99404040G>A Copied from the Exome Variant Server AAED1_000002 36/13006 1/8600 35/4406 - - - - - - -
?/? c.*12C>T r.(=) p.(=) g.99404029G>A Copied from the Exome Variant Server AAED1_000001 1/13006 0/8600 1/4406 - - - - - - -
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