Full data view for gene DNAJC3

Information The variants shown are described using the NM_006260.4 transcript reference sequence.

89 entries on 1 page. Showing entries 1 - 89.
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.-25C>T r.(=) p.(=) g.96329485C>T Copied from the Exome Variant Server DNAJC3_000001 1/13000 1/8598 0/4402 - - - - - - -
?/? c.-24C>T r.(=) p.(=) g.96329486C>T Copied from the Exome Variant Server DNAJC3_000002 261/13000 4/8598 257/4402 - - - - - - -
?/? c.13G>T r.(?) p.(Gly5Cys) g.96329522G>T Copied from the Exome Variant Server DNAJC3_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.18C>T r.(=) p.(=) g.96329527C>T Copied from the Exome Variant Server DNAJC3_000004 7/13006 0/8600 7/4406 - - - - - - -
?/? c.23C>T r.(?) p.(Thr8Ile) g.96329532C>T Copied from the Exome Variant Server DNAJC3_000005 2/13006 0/8600 2/4406 - - - - - - -
?/? c.43T>C r.(?) p.(Phe15Leu) g.96329552T>C Copied from the Exome Variant Server DNAJC3_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.51_52insCTG r.(?) p.(Leu19dup) g.96329560_96329561insCTG Copied from the Exome Variant Server DNAJC3_000007 1/12518 0/8254 1/4264 - - - - - - -
?/? c.78C>T r.(=) p.(=) g.96329587C>T Copied from the Exome Variant Server DNAJC3_000009 18/13006 17/8600 1/4406 - - - - - - -
?/? c.83-13_83-9del r.(=) p.(=) g.96361468_96361472del Copied from the Exome Variant Server DNAJC3_000011 41/12518 37/8254 4/4264 - - - - - - -
?/? c.98T>G r.(?) p.(Val33Gly) g.96361496T>G Copied from the Exome Variant Server DNAJC3_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.103G>A r.(?) p.(Ala35Thr) g.96361501G>A Copied from the Exome Variant Server DNAJC3_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.149C>A r.(?) p.(Ala50Asp) g.96361547C>A Copied from the Exome Variant Server DNAJC3_000010 2/13006 2/8600 0/4406 - - - - - - -
?/? c.162T>G r.(=) p.(=) g.96361560T>G Copied from the Exome Variant Server DNAJC3_000012 21/13006 19/8600 2/4406 - - - - - - -
?/? c.193+26C>G r.(=) p.(=) g.96361617C>G Copied from the Exome Variant Server DNAJC3_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.194-38A>T r.(=) p.(=) g.96375458A>T Copied from the Exome Variant Server DNAJC3_000015 2/12976 2/8584 0/4392 - - - - - - -
?/? c.194-37A>G r.(=) p.(=) g.96375459A>G Copied from the Exome Variant Server DNAJC3_000016 1/12978 1/8584 0/4394 - - - - - - -
?/? c.206A>G r.(?) p.(Asp69Gly) g.96375508A>G Copied from the Exome Variant Server DNAJC3_000017 5/13006 5/8600 0/4406 - - - - - - -
?/? c.261A>G r.(=) p.(=) g.96375563A>G Copied from the Exome Variant Server DNAJC3_000018 2/13006 1/8600 1/4406 - - - - - - -
?/? c.297A>G r.(=) p.(=) g.96375599A>G Copied from the Exome Variant Server DNAJC3_000019 4/13006 0/8600 4/4406 - - - - - - -
?/? c.319-37A>G r.(=) p.(=) g.96377395A>G Copied from the Exome Variant Server DNAJC3_000020 3/12938 3/8558 0/4380 - - - - - - -
?/? c.319-31C>A r.(=) p.(=) g.96377401C>A Copied from the Exome Variant Server DNAJC3_000021 1/12956 1/8572 0/4384 - - - - - - -
?/? c.319-7T>C r.(=) p.(=) g.96377425T>C Copied from the Exome Variant Server DNAJC3_000022 2/12984 0/8584 2/4400 - - - - - - -
?/? c.351A>G r.(=) p.(=) g.96377464A>G Copied from the Exome Variant Server DNAJC3_000023 1/12980 0/8574 1/4406 - - - - - - -
?/? c.356_357insA r.(?) p.(Leu121Thrfs*2) g.96377469_96377470insA Copied from the Exome Variant Server DNAJC3_000024 1/12492 1/8228 0/4264 - - - - - - -
?/? c.365A>G r.(?) p.(Asp122Gly) g.96377478A>G Copied from the Exome Variant Server DNAJC3_000025 2/12986 2/8580 0/4406 - - - - - - -
?/? c.375A>T r.(?) p.(Glu125Asp) g.96377488A>T Copied from the Exome Variant Server DNAJC3_000026 1/12978 1/8572 0/4406 - - - - - - -
?/? c.394-15053A>T r.(=) p.(=) g.96394845A>T Copied from the Exome Variant Server DNAJC3_000027 1/5734 1/3982 0/1752 - - - - - - -
?/? c.394-15047G>A r.(=) p.(=) g.96394851G>A Copied from the Exome Variant Server DNAJC3_000028 2/5734 1/3982 1/1752 - - - - - - -
?/? c.394-15028_394-15026del r.(=) p.(=) g.96394870_96394872del Copied from the Exome Variant Server DNAJC3_000029 9/7090 4/4762 5/2328 - - - - - - -
?/? c.394-15028_394-15026dup r.(=) p.(=) g.96394870_96394872dup Copied from the Exome Variant Server DNAJC3_000030 16/7090 1/4762 15/2328 - - - - - - -
?/? c.394-14956T>C r.(=) p.(=) g.96394942T>C Copied from the Exome Variant Server DNAJC3_000031 1/5734 1/3982 0/1752 - - - - - - -
?/? c.394-14869A>C r.(=) p.(=) g.96395029A>C Copied from the Exome Variant Server DNAJC3_000032 2/5734 2/3982 0/1752 - - - - - - -
?/? c.394-14786C>T r.(=) p.(=) g.96395112C>T Copied from the Exome Variant Server DNAJC3_000033 6/5732 3/3980 3/1752 - - - - - - -
?/? c.394-13A>G r.(=) p.(=) g.96409885A>G Copied from the Exome Variant Server DNAJC3_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.473G>A r.(?) p.(Arg158His) g.96409977G>A Copied from the Exome Variant Server DNAJC3_000035 8/13006 0/8600 8/4406 - - - - - - -
?/? c.520A>G r.(?) p.(Ile174Val) g.96410024A>G Copied from the Exome Variant Server DNAJC3_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.538A>G r.(?) p.(Ile180Val) g.96410042A>G Copied from the Exome Variant Server DNAJC3_000037 2/13006 0/8600 2/4406 - - - - - - -
?/? c.547-20T>C r.(=) p.(=) g.96412274T>C Copied from the Exome Variant Server DNAJC3_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.547-10G>A r.(=) p.(=) g.96412284G>A Copied from the Exome Variant Server DNAJC3_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.571C>T r.(?) p.(Arg191Trp) g.96412318C>T Copied from the Exome Variant Server DNAJC3_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.574G>A r.(?) p.(Glu192Lys) g.96412321G>A Copied from the Exome Variant Server DNAJC3_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.609A>G r.(=) p.(=) g.96412356A>G Copied from the Exome Variant Server DNAJC3_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.616del r.(?) p.(Ala207Leufs*2) g.96412363del Copied from the Exome Variant Server DNAJC3_000043 86/12518 35/8254 51/4264 - - - - - - -
?/? c.656_658del r.(?) p.(Asp220del) g.96412403_96412405del Copied from the Exome Variant Server DNAJC3_000044 515/12518 377/8254 138/4264 - - - - - - -
?/? c.671C>G r.(?) p.(Ala224Gly) g.96412418C>G Copied from the Exome Variant Server DNAJC3_000045 5/13006 0/8600 5/4406 - - - - - - -
?/? c.711C>T r.(=) p.(=) g.96412458C>T Copied from the Exome Variant Server DNAJC3_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.724C>G r.(?) p.(Leu242Val) g.96412471C>G Copied from the Exome Variant Server DNAJC3_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.728+20_728+21del r.(=) p.(=) g.96412495_96412496del Copied from the Exome Variant Server DNAJC3_000048 2/12518 1/8254 1/4264 - - - - - - -
?/? c.729-48T>C r.(=) p.(=) g.96412885T>C Copied from the Exome Variant Server DNAJC3_000049 4/13002 4/8598 0/4404 - - - - - - -
?/? c.729-35C>T r.(=) p.(=) g.96412898C>T Copied from the Exome Variant Server DNAJC3_000050 3/13004 0/8598 3/4406 - - - - - - -
?/? c.748A>C r.(?) p.(Lys250Gln) g.96412952A>C Copied from the Exome Variant Server DNAJC3_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.848+10T>C r.(=) p.(=) g.96413062T>C Copied from the Exome Variant Server DNAJC3_000052 226/13006 0/8600 226/4406 - - - - - - -
?/? c.849-31C>A r.(=) p.(=) g.96415866C>A Copied from the Exome Variant Server DNAJC3_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.849-5C>T r.spl? p.? g.96415892C>T Copied from the Exome Variant Server DNAJC3_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.854C>T r.(?) p.(Thr285Ile) g.96415902C>T Copied from the Exome Variant Server DNAJC3_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.862A>G r.(?) p.(Thr288Ala) g.96415910A>G Copied from the Exome Variant Server DNAJC3_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.914C>T r.(?) p.(Thr305Ile) g.96415962C>T Copied from the Exome Variant Server DNAJC3_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.955-32A>G r.(=) p.(=) g.96416055A>G Copied from the Exome Variant Server DNAJC3_000058 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1037G>A r.(?) p.(Arg346Gln) g.96416169G>A Copied from the Exome Variant Server DNAJC3_000059 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1049A>G r.(?) p.(Tyr350Cys) g.96416181A>G Copied from the Exome Variant Server DNAJC3_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1060G>C r.(?) p.(Glu354Gln) g.96416192G>C Copied from the Exome Variant Server DNAJC3_000060 60/13006 0/8600 60/4406 - - - - - - -
?/? c.1071T>G r.(?) p.(Asp357Glu) g.96416203T>G Copied from the Exome Variant Server DNAJC3_000062 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1076-37T>C r.(=) p.(=) g.96438156T>C Copied from the Exome Variant Server DNAJC3_000063 22/12990 0/8592 22/4398 - - - - - - -
?/? c.1076-34C>T r.(=) p.(=) g.96438159C>T Copied from the Exome Variant Server DNAJC3_000064 1/12994 0/8592 1/4402 - - - - - - -
?/? c.1076-32T>G r.(=) p.(=) g.96438161T>G Copied from the Exome Variant Server DNAJC3_000065 1/12994 1/8592 0/4402 - - - - - - -
?/? c.1076-12A>G r.(=) p.(=) g.96438181A>G Copied from the Exome Variant Server DNAJC3_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1208+11A>G r.(=) p.(=) g.96438336A>G Copied from the Exome Variant Server DNAJC3_000067 1/12976 0/8580 1/4396 - - - - - - -
?/? c.1208+27T>C r.(=) p.(=) g.96438352T>C Copied from the Exome Variant Server DNAJC3_000068 1/12932 0/8566 1/4366 - - - - - - -
?/? c.1208+40C>A r.(=) p.(=) g.96438365C>A Copied from the Exome Variant Server DNAJC3_000069 15/12840 0/8524 15/4316 - - - - - - -
?/? c.1208+43_1208+44del r.(=) p.(=) g.96438368_96438369del Copied from the Exome Variant Server DNAJC3_000070 5/12304 4/8152 1/4152 - - - - - - -
?/? c.1209-47T>C r.(=) p.(=) g.96439214T>C Copied from the Exome Variant Server DNAJC3_000071 1/12996 1/8596 0/4400 - - - - - - -
?/? c.1209-7C>A r.(=) p.(=) g.96439254C>A Copied from the Exome Variant Server DNAJC3_000072 5/13006 5/8600 0/4406 - - - - - - -
?/? c.1242C>T r.(=) p.(=) g.96439294C>T Copied from the Exome Variant Server DNAJC3_000073 10/13006 10/8600 0/4406 - - - - - - -
?/? c.1304C>T r.(?) p.(Ala435Val) g.96439356C>T Copied from the Exome Variant Server DNAJC3_000074 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1357+25A>G r.(=) p.(=) g.96439434A>G Copied from the Exome Variant Server DNAJC3_000075 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1358-43C>T r.(=) p.(=) g.96443084C>T Copied from the Exome Variant Server DNAJC3_000076 1/12936 1/8584 0/4352 - - - - - - -
?/? c.1358-17T>A r.(=) p.(=) g.96443110T>A Copied from the Exome Variant Server DNAJC3_000077 1/13002 1/8600 0/4402 - - - - - - -
?/? c.1358-11T>C r.(=) p.(=) g.96443116T>C Copied from the Exome Variant Server DNAJC3_000078 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1358-8C>A r.(=) p.(=) g.96443119C>A Copied from the Exome Variant Server DNAJC3_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1377C>T r.(=) p.(=) g.96443146C>T Copied from the Exome Variant Server DNAJC3_000080 3/13006 1/8600 2/4406 - - - - - - -
?/? c.1392T>C r.(=) p.(=) g.96443161T>C Copied from the Exome Variant Server DNAJC3_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1419C>T r.(=) p.(=) g.96443188C>T Copied from the Exome Variant Server DNAJC3_000082 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1420G>A r.(?) p.(Gly474Ser) g.96443189G>A Copied from the Exome Variant Server DNAJC3_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1425C>A r.(=) p.(=) g.96443194C>A Copied from the Exome Variant Server DNAJC3_000084 6/13006 5/8600 1/4406 - - - - - - -
?/? c.1451C>T r.(?) p.(Ser484Leu) g.96443220C>T Copied from the Exome Variant Server DNAJC3_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1483G>A r.(?) p.(Gly495Arg) g.96443252G>A Copied from the Exome Variant Server DNAJC3_000086 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*9T>C r.(=) p.(=) g.96443293T>C Copied from the Exome Variant Server DNAJC3_000087 2/13006 0/8600 2/4406 - - - - - - -
?/? c.*23_*24insTAA r.(=) p.(=) g.96443307_96443308insTAA Copied from the Exome Variant Server DNAJC3_000088 1/12518 1/8254 0/4264 - - - - - - -
?/? c.*50G>T r.(=) p.(=) g.96443334G>T Copied from the Exome Variant Server DNAJC3_000089 1/12992 1/8598 0/4394 - - - - - - -
Legend