All transcript variants in gene ATG4A

Information The variants shown are described using the NM_052936.3 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-32C>G r.(=) p.(=) g.107335025C>G Copied from the Exome Variant Server ATG4A_000001 5/10563 2/6728 3/3835
?/? c.-15G>A r.(=) p.(=) g.107335042G>A Copied from the Exome Variant Server ATG4A_000002 4/10563 3/6728 1/3835
?/? c.10+23G>C r.(=) p.(=) g.107335089G>C Copied from the Exome Variant Server ATG4A_000003 1/10563 0/6728 1/3835
?/? c.10+28G>T r.(=) p.(=) g.107335094G>T Copied from the Exome Variant Server ATG4A_000004 3/10563 3/6728 0/3835
?/? c.10+36G>T r.(=) p.(=) g.107335102G>T Copied from the Exome Variant Server ATG4A_000005 1/10563 0/6728 1/3835
?/? c.121+38G>C r.(=) p.(=) g.107369455G>C Copied from the Exome Variant Server ATG4A_000006 62/10563 0/6728 62/3835
?/? c.193+42A>G r.(=) p.(=) g.107372124A>G Copied from the Exome Variant Server ATG4A_000007 1/10560 0/6727 1/3833
?/? c.193+51C>T r.(=) p.(=) g.107372133C>T Copied from the Exome Variant Server ATG4A_000008 700/10555 5/6725 695/3830
?/? c.194-20C>A r.(=) p.(=) g.107374470C>A Copied from the Exome Variant Server ATG4A_000009 1/10563 0/6728 1/3835
?/? c.200C>T r.(?) p.(Thr67Met) g.107374496C>T Copied from the Exome Variant Server ATG4A_000010 1/10563 1/6728 0/3835
?/? c.201G>T r.(=) p.(=) g.107374497G>T Copied from the Exome Variant Server ATG4A_000011 46/10563 0/6728 46/3835
?/? c.278G>C r.(?) p.(Arg93Thr) g.107374574G>C Copied from the Exome Variant Server ATG4A_000012 4/10563 0/6728 4/3835
?/? c.292+21A>G r.(=) p.(=) g.107374609A>G Copied from the Exome Variant Server ATG4A_000013 6/10563 1/6728 5/3835
?/? c.293-18del r.(=) p.(=) g.107377269del Copied from the Exome Variant Server ATG4A_000015 61/10200 45/6481 16/3719
?/? c.293-18dup r.(=) p.(=) g.107377269dup Copied from the Exome Variant Server ATG4A_000014 98/10200 73/6481 25/3719
?/? c.293-18T>A r.(=) p.(=) g.107377269T>A Copied from the Exome Variant Server ATG4A_000016 2/10556 0/6724 2/3832
?/? c.394+17A>G r.(=) p.(=) g.107377405A>G Copied from the Exome Variant Server ATG4A_000017 3/10563 2/6728 1/3835
?/? c.394+47C>G r.(=) p.(=) g.107377435C>G Copied from the Exome Variant Server ATG4A_000018 1/10563 1/6728 0/3835
?/? c.467+7_467+8del r.(=) p.(=) g.107377648_107377649del Copied from the Exome Variant Server ATG4A_000019 32/10203 31/6482 1/3721
?/? c.467+24G>C r.(=) p.(=) g.107377665G>C Copied from the Exome Variant Server ATG4A_000020 25/10563 0/6728 25/3835
?/? c.486C>T r.(=) p.(=) g.107380339C>T Copied from the Exome Variant Server ATG4A_000021 10/10563 0/6728 10/3835
?/? c.490T>A r.(?) p.(Trp164Arg) g.107380343T>A Copied from the Exome Variant Server ATG4A_000022 1/10563 1/6728 0/3835
?/? c.501G>A r.(=) p.(=) g.107380354G>A Copied from the Exome Variant Server ATG4A_000023 2/10563 0/6728 2/3835
?/? c.511G>A r.(?) p.(Val171Ile) g.107380364G>A Copied from the Exome Variant Server ATG4A_000024 4/10563 4/6728 0/3835
?/? c.540A>C r.(?) p.(Glu180Asp) g.107380393A>C Copied from the Exome Variant Server ATG4A_000025 136/10563 3/6728 133/3835
?/? c.547+7_547+8insA r.(=) p.(=) g.107380407_107380408insA Copied from the Exome Variant Server ATG4A_000026 1/10205 1/6484 0/3721
?/? c.547+19T>A r.(=) p.(=) g.107380419T>A Copied from the Exome Variant Server ATG4A_000027 1/10563 0/6728 1/3835
?/? c.548-32A>G r.(=) p.(=) g.107381002A>G Copied from the Exome Variant Server ATG4A_000028 1/10563 1/6728 0/3835
?/? c.548-21A>T r.(=) p.(=) g.107381013A>T Copied from the Exome Variant Server ATG4A_000029 2/10563 0/6728 2/3835
?/? c.559C>T r.(?) p.(Arg187Cys) g.107381045C>T Copied from the Exome Variant Server ATG4A_000030 1/10563 1/6728 0/3835
?/? c.604G>A r.(?) p.(Asp202Asn) g.107381090G>A Copied from the Exome Variant Server ATG4A_000031 3/10563 3/6728 0/3835
?/? c.702C>G r.(?) p.(Asn234Lys) g.107381188C>G Copied from the Exome Variant Server ATG4A_000032 1/10563 1/6728 0/3835
?/? c.722T>C r.(?) p.(Val241Ala) g.107381208T>C Copied from the Exome Variant Server ATG4A_000033 5/10563 5/6728 0/3835
?/? c.735+13T>C r.(=) p.(=) g.107381234T>C Copied from the Exome Variant Server ATG4A_000034 5/10563 5/6728 0/3835
?/? c.735+48G>A r.(=) p.(=) g.107381269G>A Copied from the Exome Variant Server ATG4A_000035 27/10563 25/6728 2/3835
?/? c.814+32G>A r.(=) p.(=) g.107381453G>A Copied from the Exome Variant Server ATG4A_000036 1/10563 1/6728 0/3835
?/? c.815-52_815-51insG r.(=) p.(=) g.107393330_107393331insG Copied from the Exome Variant Server ATG4A_000037 5584/10205 3005/6484 2579/3721
?/? c.815-40G>A r.(=) p.(=) g.107393342G>A Copied from the Exome Variant Server ATG4A_000038 365/10563 3/6728 362/3835
?/? c.882G>A r.(=) p.(=) g.107393449G>A Copied from the Exome Variant Server ATG4A_000039 361/10563 1/6728 360/3835
?/? c.923G>A r.(?) p.(Arg308Gln) g.107393490G>A Copied from the Exome Variant Server ATG4A_000040 1/10563 1/6728 0/3835
?/? c.960+10C>T r.(=) p.(=) g.107393537C>T Copied from the Exome Variant Server ATG4A_000041 1/10563 1/6728 0/3835
?/? c.960+11G>A r.(=) p.(=) g.107393538G>A Copied from the Exome Variant Server ATG4A_000042 5/10563 5/6728 0/3835
?/? c.960+20G>A r.(=) p.(=) g.107393547G>A Copied from the Exome Variant Server ATG4A_000043 1/10563 1/6728 0/3835
?/? c.960+35C>T r.(=) p.(=) g.107393562C>T Copied from the Exome Variant Server ATG4A_000044 1/10563 0/6728 1/3835
?/? c.960+52T>A r.(=) p.(=) g.107393579T>A Copied from the Exome Variant Server ATG4A_000045 1/6038 0/3621 1/2417
?/? c.961-50G>A r.(=) p.(=) g.107394982G>A Copied from the Exome Variant Server ATG4A_000046 1/10563 1/6728 0/3835
?/? c.961-41C>G r.(=) p.(=) g.107394991C>G Copied from the Exome Variant Server ATG4A_000047 1/10563 0/6728 1/3835
?/? c.961-36G>A r.(=) p.(=) g.107394996G>A Copied from the Exome Variant Server ATG4A_000048 1/10563 1/6728 0/3835
?/? c.961-17del r.(=) p.(=) g.107395015del Copied from the Exome Variant Server ATG4A_000049 63/10205 30/6484 33/3721
?/? c.961-11del r.(=) p.(=) g.107395021del Copied from the Exome Variant Server ATG4A_000050 111/10205 90/6484 21/3721
?/? c.971G>A r.(?) p.(Cys324Tyr) g.107395042G>A Copied from the Exome Variant Server ATG4A_000051 1/10563 1/6728 0/3835
?/? c.998G>T r.(?) p.(Trp333Leu) g.107395069G>T Copied from the Exome Variant Server ATG4A_000052 2/10563 0/6728 2/3835
?/? c.1017+9A>G r.(=) p.(=) g.107395097A>G Copied from the Exome Variant Server ATG4A_000053 2/10563 0/6728 2/3835
?/? c.1017+30A>G r.(=) p.(=) g.107395118A>G Copied from the Exome Variant Server ATG4A_000055 20/10563 0/6728 20/3835
?/? c.1017+33T>C r.(=) p.(=) g.107395121T>C Copied from the Exome Variant Server ATG4A_000057 1/10563 0/6728 1/3835
?/? c.1032G>T r.(?) p.(Glu344Asp) g.107396223G>T Copied from the Exome Variant Server ATG4A_000059 1/10563 1/6728 0/3835
?/? c.1126+48G>A r.(=) p.(=) g.107396365G>A Copied from the Exome Variant Server ATG4A_000061 5758/10561 3107/6726 2651/3835
?/? c.1127-49C>T r.(=) p.(=) g.107396823C>T Copied from the Exome Variant Server ATG4A_000054 2/10563 2/6728 0/3835
?/? c.1127-43A>G r.(=) p.(=) g.107396829A>G Copied from the Exome Variant Server ATG4A_000056 190/10563 2/6728 188/3835
?/? c.1127-12G>A r.(=) p.(=) g.107396860G>A Copied from the Exome Variant Server ATG4A_000058 8/10563 8/6728 0/3835
?/? c.1144G>A r.(?) p.(Glu382Lys) g.107396889G>A Copied from the Exome Variant Server ATG4A_000060 1/10563 1/6728 0/3835
?/? c.*16A>G r.(=) p.(=) g.107396958A>G Copied from the Exome Variant Server ATG4A_000062 570/10563 337/6728 233/3835
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