Full data view for gene ATG4C

Information The variants shown are described using the NM_032852.3 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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.-44A>G r.(=) p.(=) g.63269414A>G Copied from the Exome Variant Server ATG4C_000001 1/12980 1/8580 0/4400 - - - - - - -
?/? c.76+47A>G r.(=) p.(=) g.63269580A>G Copied from the Exome Variant Server ATG4C_000002 2611/12928 1312/8546 1299/4382 - - - - - - -
?/? c.77-20del r.(=) p.(=) g.63270823del Copied from the Exome Variant Server ATG4C_000003 373/12330 199/8140 174/4190 - - - - - - -
?/? c.77-16_77-15insC r.(=) p.(=) g.63270827_63270828insC Copied from the Exome Variant Server ATG4C_000004 10/12338 5/8148 5/4190 - - - - - - -
?/? c.77-14T>C r.(=) p.(=) g.63270829T>C Copied from the Exome Variant Server ATG4C_000005 3/12836 2/8498 1/4338 - - - - - - -
?/? c.98C>T r.(?) p.(Thr33Met) g.63270864C>T Copied from the Exome Variant Server ATG4C_000006 5/12906 5/8542 0/4364 - - - - - - -
?/? c.99G>A r.(=) p.(=) g.63270865G>A Copied from the Exome Variant Server ATG4C_000007 2/12908 2/8544 0/4364 - - - - - - -
?/? c.127T>C r.(=) p.(=) g.63270893T>C Copied from the Exome Variant Server ATG4C_000008 1/12914 0/8540 1/4374 - - - - - - -
?/? c.130C>A r.(?) p.(Leu44Ile) g.63270896C>A Copied from the Exome Variant Server ATG4C_000009 5/12912 0/8538 5/4374 - - - - - - -
?/? c.161-40A>T r.(=) p.(=) g.63282206A>T Copied from the Exome Variant Server ATG4C_000010 2/13002 0/8598 2/4404 - - - - - - -
?/? c.161-18C>T r.(=) p.(=) g.63282228C>T Copied from the Exome Variant Server ATG4C_000011 8/13002 0/8598 8/4404 - - - - - - -
?/? c.161-16T>C r.(=) p.(=) g.63282230T>C Copied from the Exome Variant Server ATG4C_000012 1/13002 1/8598 0/4404 - - - - - - -
?/? c.178C>T r.(?) p.(Pro60Ser) g.63282263C>T Copied from the Exome Variant Server ATG4C_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.196A>G r.(?) p.(Thr66Ala) g.63282281A>G Copied from the Exome Variant Server ATG4C_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.211G>A r.(?) p.(Val71Ile) g.63282296G>A Copied from the Exome Variant Server ATG4C_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.224A>G r.(?) p.(Asn75Ser) g.63282309A>G Copied from the Exome Variant Server ATG4C_000020 3/13006 3/8600 0/4406 - - - - - - -
?/? c.238C>T r.(?) p.(Arg80Cys) g.63282323C>T Copied from the Exome Variant Server ATG4C_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.239G>A r.(?) p.(Arg80His) g.63282324G>A Copied from the Exome Variant Server ATG4C_000024 4/13006 3/8600 1/4406 - - - - - - -
?/? c.275G>A r.(?) p.(Arg92Lys) g.63282360G>A Copied from the Exome Variant Server ATG4C_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.294A>G r.(?) p.(Ile98Met) g.63282379A>G Copied from the Exome Variant Server ATG4C_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.312A>C r.(=) p.(=) g.63282397A>C Copied from the Exome Variant Server ATG4C_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.335C>T r.(?) p.(Thr112Ile) g.63282420C>T Copied from the Exome Variant Server ATG4C_000032 2/13006 0/8600 2/4406 - - - - - - -
?/? c.350del r.(?) p.(Gln117Argfs*23) g.63282435del Copied from the Exome Variant Server ATG4C_000034 2/12520 2/8254 0/4266 - - - - - - -
?/? c.366A>G r.(=) p.(=) g.63282451A>G Copied from the Exome Variant Server ATG4C_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.379C>T r.(?) p.(His127Tyr) g.63282464C>T Copied from the Exome Variant Server ATG4C_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.394+18_394+22del r.(=) p.(=) g.63282497_63282501del Copied from the Exome Variant Server ATG4C_000015 25/12444 19/8208 6/4236 - - - - - - -
?/? c.394+18_394+22dup r.(=) p.(=) g.63282497_63282501dup Copied from the Exome Variant Server ATG4C_000013 23/12444 15/8208 8/4236 - - - - - - -
?/? c.394+48G>A r.(=) p.(=) g.63282527G>A Copied from the Exome Variant Server ATG4C_000017 45/12838 38/8484 7/4354 - - - - - - -
?/? c.395-44A>G r.(=) p.(=) g.63284632A>G Copied from the Exome Variant Server ATG4C_000018 1/12998 1/8594 0/4404 - - - - - - -
?/? c.395-42C>T r.(=) p.(=) g.63284634C>T Copied from the Exome Variant Server ATG4C_000021 1/12998 1/8594 0/4404 - - - - - - -
?/? c.395C>T r.(?) p.(Ala132Val) g.63284676C>T Copied from the Exome Variant Server ATG4C_000023 1/13004 1/8598 0/4406 - - - - - - -
?/? c.406C>T r.(?) p.(Pro136Ser) g.63284687C>T Copied from the Exome Variant Server ATG4C_000025 1/13004 1/8598 0/4406 - - - - - - -
?/? c.549G>A r.(=) p.(=) g.63284830G>A Copied from the Exome Variant Server ATG4C_000027 394/13006 347/8600 47/4406 - - - - - - -
?/? c.605_606insT r.(?) p.(Trp203Leufs*4) g.63284886_63284887insT Copied from the Exome Variant Server ATG4C_000029 3/12520 3/8254 0/4266 - - - - - - -
?/? c.620C>T r.(?) p.(Ser207Phe) g.63284901C>T Copied from the Exome Variant Server ATG4C_000031 2/13006 0/8600 2/4406 - - - - - - -
?/? c.657A>C r.(?) p.(Glu219Asp) g.63284938A>C Copied from the Exome Variant Server ATG4C_000033 2/13006 0/8600 2/4406 - - - - - - -
?/? c.725+27T>C r.(=) p.(=) g.63285033T>C Copied from the Exome Variant Server ATG4C_000035 1593/13004 1276/8598 317/4406 - - - - - - -
?/? c.726-48A>G r.(=) p.(=) g.63286762A>G Copied from the Exome Variant Server ATG4C_000038 90/12992 0/8588 90/4404 - - - - - - -
?/? c.726-16C>T r.(=) p.(=) g.63286794C>T Copied from the Exome Variant Server ATG4C_000041 49/12996 0/8590 49/4406 - - - - - - -
?/? c.726-11T>C r.(=) p.(=) g.63286799T>C Copied from the Exome Variant Server ATG4C_000043 1/12994 1/8588 0/4406 - - - - - - -
?/? c.734T>C r.(?) p.(Val245Ala) g.63286818T>C Copied from the Exome Variant Server ATG4C_000045 1/13000 1/8594 0/4406 - - - - - - -
?/? c.774T>A r.(=) p.(=) g.63286858T>A Copied from the Exome Variant Server ATG4C_000047 3/13000 0/8594 3/4406 - - - - - - -
?/? c.796+24T>C r.(=) p.(=) g.63286904T>C Copied from the Exome Variant Server ATG4C_000049 8/12992 0/8586 8/4406 - - - - - - -
?/? c.796+25C>A r.(=) p.(=) g.63286905C>A Copied from the Exome Variant Server ATG4C_000050 1/12992 0/8586 1/4406 - - - - - - -
?/? c.833C>G r.(?) p.(Ser278Cys) g.63294747C>G Copied from the Exome Variant Server ATG4C_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.844G>A r.(?) p.(Asp282Asn) g.63294758G>A Copied from the Exome Variant Server ATG4C_000055 1/13004 1/8598 0/4406 - - - - - - -
?/? c.883G>A r.(?) p.(Val295Ile) g.63294797G>A Copied from the Exome Variant Server ATG4C_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.912C>T r.(=) p.(=) g.63294826C>T Copied from the Exome Variant Server ATG4C_000059 2/13004 2/8598 0/4406 - - - - - - -
?/? c.933+3A>G r.spl? p.? g.63294850A>G Copied from the Exome Variant Server ATG4C_000060 2/13002 2/8596 0/4406 - - - - - - -
?/? c.933+45A>G r.(=) p.(=) g.63294892A>G Copied from the Exome Variant Server ATG4C_000063 12/12970 0/8582 12/4388 - - - - - - -
?/? c.934-44A>G r.(=) p.(=) g.63299665A>G Copied from the Exome Variant Server ATG4C_000036 1/13004 0/8598 1/4406 - - - - - - -
?/? c.934-14_934-13insT r.(=) p.(=) g.63299695_63299696insT Copied from the Exome Variant Server ATG4C_000040 2/12520 2/8254 0/4266 - - - - - - -
?/? c.947_948insA r.(?) p.(Glu317Glyfs*12) g.63299722_63299723insA Copied from the Exome Variant Server ATG4C_000042 1/12520 0/8254 1/4266 - - - - - - -
?/? c.955_956del r.(?) p.(Val320Glyfs*8) g.63299730_63299731del Copied from the Exome Variant Server ATG4C_000044 26/12520 20/8254 6/4266 - - - - - - -
?/? c.976A>C r.(?) p.(Lys326Gln) g.63299751A>C Copied from the Exome Variant Server ATG4C_000046 25/13006 21/8600 4/4406 - - - - - - -
?/? c.1022T>G r.(?) p.(Leu341Trp) g.63300456T>G Copied from the Exome Variant Server ATG4C_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1044C>T r.(=) p.(=) g.63300478C>T Copied from the Exome Variant Server ATG4C_000051 189/13006 2/8600 187/4406 - - - - - - -
?/? c.1050A>G r.(=) p.(=) g.63300484A>G Copied from the Exome Variant Server ATG4C_000053 2/13004 1/8598 1/4406 - - - - - - -
?/? c.1090-46T>C r.(=) p.(=) g.63307053T>C Copied from the Exome Variant Server ATG4C_000054 1/12882 1/8564 0/4318 - - - - - - -
?/? c.1100G>A r.(?) p.(Cys367Tyr) g.63307109G>A Copied from the Exome Variant Server ATG4C_000057 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1112A>G r.(?) p.(Lys371Arg) g.63307121A>G Copied from the Exome Variant Server ATG4C_000058 5/13006 5/8600 0/4406 - - - - - - -
?/? c.1122del r.(?) p.(Arg376Glufs*9) g.63307131del Copied from the Exome Variant Server ATG4C_000061 50/12520 31/8254 19/4266 - - - - - - -
?/? c.1165C>T r.(?) p.(Arg389*) g.63307174C>T Copied from the Exome Variant Server ATG4C_000062 2/13002 1/8598 1/4404 - - - - - - -
?/? c.1210-39_1210-36del r.(=) p.(=) g.63329624_63329627del Copied from the Exome Variant Server ATG4C_000064 13/12492 9/8240 4/4252 - - - - - - -
?/? c.1210-31A>G r.(=) p.(=) g.63329632A>G Copied from the Exome Variant Server ATG4C_000066 7/12984 6/8586 1/4398 - - - - - - -
?/? c.1236A>G r.(=) p.(=) g.63329689A>G Copied from the Exome Variant Server ATG4C_000068 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1277A>G r.(?) p.(Tyr426Cys) g.63329730A>G Copied from the Exome Variant Server ATG4C_000070 1/13002 1/8596 0/4406 - - - - - - -
?/? c.1324G>T r.(?) p.(Asp442Tyr) g.63329777G>T Copied from the Exome Variant Server ATG4C_000071 15/12990 14/8590 1/4400 - - - - - - -
?/? c.1329A>G r.(=) p.(=) g.63329782A>G Copied from the Exome Variant Server ATG4C_000072 9/12992 9/8590 0/4402 - - - - - - -
?/? c.1331A>G r.(?) p.(Lys444Arg) g.63329784A>G Copied from the Exome Variant Server ATG4C_000073 17/12990 0/8590 17/4400 - - - - - - -
?/? c.1336C>T r.(?) p.(Gln446*) g.63329789C>T Copied from the Exome Variant Server ATG4C_000074 4/12994 4/8594 0/4400 - - - - - - -
?/? c.1355C>T r.(?) p.(Thr452Met) g.63329808C>T Copied from the Exome Variant Server ATG4C_000075 2/12978 1/8580 1/4398 - - - - - - -
?/? c.1356G>A r.(=) p.(=) g.63329809G>A Copied from the Exome Variant Server ATG4C_000076 2/12976 0/8578 2/4398 - - - - - - -
?/? c.*31A>G r.(=) p.(=) g.63329861A>G Copied from the Exome Variant Server ATG4C_000077 1/12860 0/8536 1/4324 - - - - - - -
?/? c.*36A>C r.(=) p.(=) g.63329866A>C Copied from the Exome Variant Server ATG4C_000078 24/12820 0/8524 24/4296 - - - - - - -
?/? c.*37T>C r.(=) p.(=) g.63329867T>C Copied from the Exome Variant Server ATG4C_000065 41/12818 0/8522 41/4296 - - - - - - -
?/? c.*47del r.(=) p.(=) g.63329877del Copied from the Exome Variant Server ATG4C_000067 104/12192 2/8120 102/4072 - - - - - - -
?/? c.*51_*53del r.(=) p.(=) g.63329881_63329883del Copied from the Exome Variant Server ATG4C_000069 10/12190 0/8120 10/4070 - - - - - - -
Legend