Full data view for gene DNAJC1

Information The variants shown are described using the NM_022365.3 transcript reference sequence.

90 entries on 1 page. Showing entries 1 - 90.
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.80_82del r.(?) p.(Pro27del) g.22292282_22292284del Copied from the Exome Variant Server DNAJC1_000079 25/4864 22/3348 3/1516 - - - - - - -
?/? c.80_82dup r.(?) p.(Pro27dup) g.22292282_22292284dup Copied from the Exome Variant Server DNAJC1_000090 9/4864 1/3348 8/1516 - - - - - - -
?/? c.115_117del r.(?) p.(Leu39del) g.22292247_22292249del Copied from the Exome Variant Server DNAJC1_000076 209/6258 142/4286 67/1972 - - - - - - -
?/? c.173T>C r.(?) p.(Leu58Ser) g.22292191A>G Copied from the Exome Variant Server DNAJC1_000074 1/12974 1/8584 0/4390 - - - - - - -
?/? c.211G>T r.(?) p.(Gly71Trp) g.22292153C>A Copied from the Exome Variant Server DNAJC1_000089 1/12992 0/8598 1/4394 - - - - - - -
?/? c.222+23C>T r.(=) p.(=) g.22292119G>A Copied from the Exome Variant Server DNAJC1_000088 1/12966 1/8582 0/4384 - - - - - - -
?/? c.222+51C>T r.(=) p.(=) g.22292091G>A Copied from the Exome Variant Server DNAJC1_000087 1/12850 1/8522 0/4328 - - - - - - -
?/? c.223-7C>T r.(=) p.(=) g.22218077G>A Copied from the Exome Variant Server DNAJC1_000086 1/13006 0/8600 1/4406 - - - - - - -
?/? c.257G>A r.(?) p.(Arg86His) g.22218036C>T Copied from the Exome Variant Server DNAJC1_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.275T>C r.(?) p.(Leu92Ser) g.22218018A>G Copied from the Exome Variant Server DNAJC1_000084 1/13004 1/8598 0/4406 - - - - - - -
?/? c.324+29_324+30insAT r.(=) p.(=) g.22217939_22217940insAT Copied from the Exome Variant Server DNAJC1_000083 196/12492 169/8244 27/4248 - - - - - - -
?/? c.325-27T>C r.(=) p.(=) g.22217508A>G Copied from the Exome Variant Server DNAJC1_000082 3/12992 0/8590 3/4402 - - - - - - -
?/? c.325-14T>C r.(=) p.(=) g.22217495A>G Copied from the Exome Variant Server DNAJC1_000081 4/12994 0/8590 4/4404 - - - - - - -
?/? c.343G>C r.(?) p.(Val115Leu) g.22217463C>G Copied from the Exome Variant Server DNAJC1_000080 1/13004 0/8598 1/4406 - - - - - - -
?/? c.361C>T r.(?) p.(Arg121*) g.22217445G>A Copied from the Exome Variant Server DNAJC1_000078 1/13004 1/8598 0/4406 - - - - - - -
?/? c.371+42T>C r.(=) p.(=) g.22217393A>G Copied from the Exome Variant Server DNAJC1_000077 2/12996 2/8592 0/4404 - - - - - - -
?/? c.371+52G>A r.(=) p.(=) g.22217383C>T Copied from the Exome Variant Server DNAJC1_000075 2/10290 0/7156 2/3134 - - - - - - -
?/? c.372-49del r.(=) p.(=) g.22209941del Copied from the Exome Variant Server DNAJC1_000073 19/12386 7/8218 12/4168 - - - - - - -
?/? c.372-49dup r.(=) p.(=) g.22209941dup Copied from the Exome Variant Server DNAJC1_000072 25/12386 15/8218 10/4168 - - - - - - -
?/? c.372-29C>T r.(=) p.(=) g.22209921G>A Copied from the Exome Variant Server DNAJC1_000071 3/12990 0/8594 3/4396 - - - - - - -
?/? c.379G>A r.(?) p.(Asp127Asn) g.22209885C>T Copied from the Exome Variant Server DNAJC1_000070 10/13006 9/8600 1/4406 - - - - - - -
?/? c.455C>T r.(?) p.(Ala152Val) g.22209809G>A Copied from the Exome Variant Server DNAJC1_000069 2/13006 0/8600 2/4406 - - - - - - -
?/? c.470T>G r.(?) p.(Leu157Arg) g.22209794A>C Copied from the Exome Variant Server DNAJC1_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.514T>G r.(?) p.(Ser172Ala) g.22209750A>C Copied from the Exome Variant Server DNAJC1_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.538-51G>A r.(=) p.(=) g.22208909C>T Copied from the Exome Variant Server DNAJC1_000066 1/12932 1/8554 0/4378 - - - - - - -
?/? c.538-36A>G r.(=) p.(=) g.22208894T>C Copied from the Exome Variant Server DNAJC1_000064 3/12982 0/8582 3/4400 - - - - - - -
?/? c.594T>C r.(=) p.(=) g.22208802A>G Copied from the Exome Variant Server DNAJC1_000062 4/12996 4/8592 0/4404 - - - - - - -
?/? c.612C>T r.(=) p.(=) g.22208784G>A Copied from the Exome Variant Server DNAJC1_000060 1/12998 1/8594 0/4404 - - - - - - -
?/? c.635+8C>G r.(=) p.(=) g.22208753G>C Copied from the Exome Variant Server DNAJC1_000058 56/12996 0/8592 56/4404 - - - - - - -
?/? c.635+51C>T r.(=) p.(=) g.22208710G>A Copied from the Exome Variant Server DNAJC1_000065 3/12976 0/8574 3/4402 - - - - - - -
?/? c.636-46T>G r.(=) p.(=) g.22207847A>C Copied from the Exome Variant Server DNAJC1_000063 1/13002 1/8596 0/4406 - - - - - - -
?/? c.636-45A>G r.(=) p.(=) g.22207846T>C Copied from the Exome Variant Server DNAJC1_000061 3/13004 0/8598 3/4406 - - - - - - -
?/? c.636-38A>T r.(=) p.(=) g.22207839T>A Copied from the Exome Variant Server DNAJC1_000059 5/13006 0/8600 5/4406 - - - - - - -
?/? c.636-29A>G r.(=) p.(=) g.22207830T>C Copied from the Exome Variant Server DNAJC1_000057 2/13006 0/8600 2/4406 - - - - - - -
?/? c.645G>A r.(?) p.(Met215Ile) g.22207792C>T Copied from the Exome Variant Server DNAJC1_000056 2/13006 1/8600 1/4406 - - - - - - -
?/? c.663T>C r.(=) p.(=) g.22207774A>G Copied from the Exome Variant Server DNAJC1_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.664T>C r.(=) p.(=) g.22207773A>G Copied from the Exome Variant Server DNAJC1_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.672A>G r.(=) p.(=) g.22207765T>C Copied from the Exome Variant Server DNAJC1_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.696C>A r.(?) p.(Cys232*) g.22207741G>T Copied from the Exome Variant Server DNAJC1_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.730-3A>G r.spl? p.? g.22193544T>C Copied from the Exome Variant Server DNAJC1_000051 1/12978 0/8576 1/4402 - - - - - - -
?/? c.763A>G r.(?) p.(Thr255Ala) g.22193508T>C Copied from the Exome Variant Server DNAJC1_000050 16/12994 0/8592 16/4402 - - - - - - -
?/? c.771G>A r.(=) p.(=) g.22193500C>T Copied from the Exome Variant Server DNAJC1_000049 5/12996 1/8594 4/4402 - - - - - - -
?/? c.785A>G r.(?) p.(Asp262Gly) g.22193486T>C Copied from the Exome Variant Server DNAJC1_000048 1/12998 1/8596 0/4402 - - - - - - -
?/? c.820+26A>G r.(=) p.(=) g.22193425T>C Copied from the Exome Variant Server DNAJC1_000047 2/12970 0/8572 2/4398 - - - - - - -
?/? c.820+29A>G r.(=) p.(=) g.22193422T>C Copied from the Exome Variant Server DNAJC1_000046 8329/12968 5913/8572 2416/4396 - - - - - - -
?/? c.820+37_820+38del r.(=) p.(=) g.22193413_22193414del Copied from the Exome Variant Server DNAJC1_000045 16/12460 13/8214 3/4246 - - - - - - -
?/? c.821-22G>A r.(=) p.(=) g.22171390C>T Copied from the Exome Variant Server DNAJC1_000044 2/12972 2/8576 0/4396 - - - - - - -
?/? c.821-18C>A r.(=) p.(=) g.22171386G>T Copied from the Exome Variant Server DNAJC1_000043 2/12974 2/8576 0/4398 - - - - - - -
?/? c.962G>A r.(?) p.(Arg321Gln) g.22171227C>T Copied from the Exome Variant Server DNAJC1_000042 2/13006 0/8600 2/4406 - - - - - - -
?/? c.965C>T r.(?) p.(Thr322Ile) g.22171224G>A Copied from the Exome Variant Server DNAJC1_000041 2/13006 2/8600 0/4406 - - - - - - -
?/? c.978+7A>C r.(=) p.(=) g.22171204T>G Copied from the Exome Variant Server DNAJC1_000040 2/13002 0/8598 2/4404 - - - - - - -
?/? c.978+15T>C r.(=) p.(=) g.22171196A>G Copied from the Exome Variant Server DNAJC1_000039 1/13002 1/8598 0/4404 - - - - - - -
?/? c.978+20C>G r.(=) p.(=) g.22171191G>C Copied from the Exome Variant Server DNAJC1_000038 1/13004 0/8600 1/4404 - - - - - - -
?/? c.978+49G>A r.(=) p.(=) g.22171162C>T Copied from the Exome Variant Server DNAJC1_000037 1/13000 1/8598 0/4402 - - - - - - -
?/? c.1011A>G r.(=) p.(=) g.22094996T>C Copied from the Exome Variant Server DNAJC1_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1048C>T r.(?) p.(Pro350Ser) g.22094959G>A Copied from the Exome Variant Server DNAJC1_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1056A>T r.(=) p.(=) g.22094951T>A Copied from the Exome Variant Server DNAJC1_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1098+5G>A r.spl? p.? g.22094904C>T Copied from the Exome Variant Server DNAJC1_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1098+22T>C r.(=) p.(=) g.22094887A>G Copied from the Exome Variant Server DNAJC1_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1098+29G>T r.(=) p.(=) g.22094880C>A Copied from the Exome Variant Server DNAJC1_000030 246/13006 222/8600 24/4406 - - - - - - -
?/? c.1099-63G>A r.(=) p.(=) g.22055301C>T Copied from the Exome Variant Server DNAJC1_000029 1/4566 0/3182 1/1384 - - - - - - -
?/? c.1099-17T>C r.(=) p.(=) g.22055255A>G Copied from the Exome Variant Server DNAJC1_000027 7/13006 0/8600 7/4406 - - - - - - -
?/? c.1148-28C>A r.(=) p.(=) g.22048575G>T Copied from the Exome Variant Server DNAJC1_000025 1/12698 1/8368 0/4330 - - - - - - -
?/? c.1176G>A r.(=) p.(=) g.22048519C>T Copied from the Exome Variant Server DNAJC1_000024 2/13004 2/8598 0/4406 - - - - - - -
?/? c.1205C>T r.(?) p.(Thr402Met) g.22048490G>A Copied from the Exome Variant Server DNAJC1_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1222G>A r.(?) p.(Asp408Asn) g.22048473C>T Copied from the Exome Variant Server DNAJC1_000020 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1228A>G r.(?) p.(Met410Val) g.22048467T>C Copied from the Exome Variant Server DNAJC1_000031 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1240C>T r.(?) p.(Arg414*) g.22048455G>A Copied from the Exome Variant Server DNAJC1_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1255G>T r.(?) p.(Gly419Trp) g.22048440C>A Copied from the Exome Variant Server DNAJC1_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1290C>T r.(=) p.(=) g.22048405G>A Copied from the Exome Variant Server DNAJC1_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1327C>T r.(?) p.(Arg443Trp) g.22048368G>A Copied from the Exome Variant Server DNAJC1_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1345A>G r.(?) p.(Arg449Gly) g.22048350T>C Copied from the Exome Variant Server DNAJC1_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1365G>A r.(=) p.(=) g.22048330C>T Copied from the Exome Variant Server DNAJC1_000018 1619/13006 1451/8600 168/4406 - - - - - - -
?/? c.1370C>T r.(?) p.(Pro457Leu) g.22048325G>A Copied from the Exome Variant Server DNAJC1_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1472G>A r.(?) p.(Arg491Gln) g.22048223C>T Copied from the Exome Variant Server DNAJC1_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1488G>A r.(=) p.(=) g.22048207C>T Copied from the Exome Variant Server DNAJC1_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1524G>A r.(=) p.(=) g.22048171C>T Copied from the Exome Variant Server DNAJC1_000014 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1555C>A r.(?) p.(Arg519Ser) g.22048140G>T Copied from the Exome Variant Server DNAJC1_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1577G>T r.(?) p.(Cys526Phe) g.22048118C>A Copied from the Exome Variant Server DNAJC1_000012 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1596+3G>A r.spl? p.? g.22048096C>T Copied from the Exome Variant Server DNAJC1_000011 30/13006 29/8600 1/4406 - - - - - - -
?/? c.1596+10G>T r.(=) p.(=) g.22048089C>A Copied from the Exome Variant Server DNAJC1_000010 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1596+12G>C r.(=) p.(=) g.22048087C>G Copied from the Exome Variant Server DNAJC1_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1596+19G>A r.(=) p.(=) g.22048080C>T Copied from the Exome Variant Server DNAJC1_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1623G>T r.(?) p.(Leu541Phe) g.22045658C>A Copied from the Exome Variant Server DNAJC1_000007 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1635G>T r.(=) p.(=) g.22045646C>A Copied from the Exome Variant Server DNAJC1_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1660A>G r.(?) p.(Ser554Gly) g.22045621T>C Copied from the Exome Variant Server DNAJC1_000005 2/13006 0/8600 2/4406 - - - - - - -
?/? c.*18G>A r.(=) p.(=) g.22045598C>T Copied from the Exome Variant Server DNAJC1_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*38A>G r.(=) p.(=) g.22045578T>C Copied from the Exome Variant Server DNAJC1_000003 2/13006 2/8600 0/4406 - - - - - - -
?/? c.*43T>C r.(=) p.(=) g.22045573A>G Copied from the Exome Variant Server DNAJC1_000002 3/13006 0/8600 3/4406 - - - - - - -
?/? c.*56T>G r.(=) p.(=) g.22045560A>C Copied from the Exome Variant Server DNAJC1_000001 2/4566 0/3182 2/1384 - - - - - - -
Legend