Unique variants in gene ABCD3

Information The variants shown are described using the NM_002858.3 transcript reference sequence.

139 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-40C>T r.(=) p.(=) g.94883995C>T Copied from the Exome Variant Server ABCD3_000001 295/11982 263/7966 32/4016
1 c.-36G>T r.(=) p.(=) g.94883999G>T Copied from the Exome Variant Server ABCD3_000002 96/12122 1/8062 95/4060
1 c.-30C>G r.(=) p.(=) g.94884005C>G Copied from the Exome Variant Server ABCD3_000003 1/12312 0/8172 1/4140
1 c.-29C>G r.(=) p.(=) g.94884006C>G Copied from the Exome Variant Server ABCD3_000004 26/12316 26/8170 0/4146
1 c.-25C>T r.(=) p.(=) g.94884010C>T Copied from the Exome Variant Server ABCD3_000005 4/12278 4/8136 0/4142
1 c.8C>T r.(?) p.(Ala3Val) g.94884042C>T Copied from the Exome Variant Server ABCD3_000006 4/12984 3/8582 1/4402
1 c.9C>T r.(=) p.(=) g.94884043C>T Copied from the Exome Variant Server ABCD3_000007 4/12984 4/8582 0/4402
1 c.66G>C r.(=) p.(=) g.94884100G>C Copied from the Exome Variant Server ABCD3_000008 1/12986 0/8584 1/4402
1 c.110+48T>A r.(=) p.(=) g.94884192T>A Copied from the Exome Variant Server ABCD3_000009 1/12474 0/8228 1/4246
1 c.111-40A>G r.(=) p.(=) g.94924123A>G Copied from the Exome Variant Server ABCD3_000010 9/12988 0/8584 9/4404
1 c.111-38A>G r.(=) p.(=) g.94924125A>G Copied from the Exome Variant Server ABCD3_000011 1/12988 1/8584 0/4404
1 c.111-27_111-24del r.(=) p.(=) g.94924136_94924139del Copied from the Exome Variant Server ABCD3_000012 63/12506 43/8244 20/4262
1 c.111-25_111-24del r.(=) p.(=) g.94924138_94924139del Copied from the Exome Variant Server ABCD3_000013 219/12506 128/8244 91/4262
1 c.111-18_111-16del r.(=) p.(=) g.94924145_94924147del Copied from the Exome Variant Server ABCD3_000014 76/12508 33/8244 43/4264
1 c.111-15T>C r.(=) p.(=) g.94924148T>C Copied from the Exome Variant Server ABCD3_000016 41/12994 2/8590 39/4404
1 c.116A>G r.(?) p.(Lys39Arg) g.94924168A>G Copied from the Exome Variant Server ABCD3_000018 1/12996 0/8590 1/4406
1 c.122G>A r.(?) p.(Gly41Glu) g.94924174G>A Copied from the Exome Variant Server ABCD3_000020 9/13000 8/8594 1/4406
1 c.143A>G r.(?) p.(Asn48Ser) g.94924195A>G Copied from the Exome Variant Server ABCD3_000022 1/13002 1/8596 0/4406
1 c.144T>G r.(?) p.(Asn48Lys) g.94924196T>G Copied from the Exome Variant Server ABCD3_000024 1/13002 0/8596 1/4406
1 c.145G>C r.(?) p.(Glu49Gln) g.94924197G>C Copied from the Exome Variant Server ABCD3_000026 1/13002 1/8596 0/4406
1 c.147+18C>A r.(=) p.(=) g.94924217C>A Copied from the Exome Variant Server ABCD3_000028 1/13004 0/8598 1/4406
1 c.148-45T>C r.(=) p.(=) g.94930286T>C Copied from the Exome Variant Server ABCD3_000030 1/13006 0/8600 1/4406
1 c.148-32T>G r.(=) p.(=) g.94930299T>G Copied from the Exome Variant Server ABCD3_000032 46/13006 0/8600 46/4406
1 c.148-16_148-15insT r.(=) p.(=) g.94930315_94930316insT Copied from the Exome Variant Server ABCD3_000034 3/12520 1/8254 2/4266
1 c.148-12T>A r.(=) p.(=) g.94930319T>A Copied from the Exome Variant Server ABCD3_000036 1/13006 1/8600 0/4406
1 c.155G>T r.(?) p.(Gly52Val) g.94930338G>T Copied from the Exome Variant Server ABCD3_000015 35/13006 32/8600 3/4406
1 c.162G>A r.(=) p.(=) g.94930345G>A Copied from the Exome Variant Server ABCD3_000017 4841/13006 4145/8600 696/4406
1 c.183G>A r.(=) p.(=) g.94930366G>A Copied from the Exome Variant Server ABCD3_000019 1/13006 1/8600 0/4406
1 c.246+11T>C r.(=) p.(=) g.94930440T>C Copied from the Exome Variant Server ABCD3_000021 1/13006 0/8600 1/4406
1 c.246+39C>T r.(=) p.(=) g.94930468C>T Copied from the Exome Variant Server ABCD3_000023 1/13006 1/8600 0/4406
1 c.246+40G>A r.(=) p.(=) g.94930469G>A Copied from the Exome Variant Server ABCD3_000025 3/13006 2/8600 1/4406
1 c.247-18A>G r.(=) p.(=) g.94933457A>G Copied from the Exome Variant Server ABCD3_000027 1/12998 1/8594 0/4404
1 c.294T>C r.(=) p.(=) g.94933522T>C Copied from the Exome Variant Server ABCD3_000029 1/13004 0/8598 1/4406
1 c.300T>C r.(=) p.(=) g.94933528T>C Copied from the Exome Variant Server ABCD3_000031 1/13002 1/8596 0/4406
1 c.335+4_335+5insT r.spl? p.? g.94933567_94933568insT Copied from the Exome Variant Server ABCD3_000033 1/12518 1/8252 0/4266
1 c.335+14C>T r.(=) p.(=) g.94933577C>T Copied from the Exome Variant Server ABCD3_000035 2/13002 1/8598 1/4404
1 c.335+55del r.(=) p.(=) g.94933618del Copied from the Exome Variant Server ABCD3_000037 1/12510 0/8248 1/4262
1 c.336-11G>A r.(=) p.(=) g.94939311G>A Copied from the Exome Variant Server ABCD3_000038 2/13006 0/8600 2/4406
1 c.381C>G r.(=) p.(=) g.94939367C>G Copied from the Exome Variant Server ABCD3_000039 4/13006 0/8600 4/4406
1 c.391G>A r.(?) p.(Ala131Thr) g.94939377G>A Copied from the Exome Variant Server ABCD3_000040 1/13006 1/8600 0/4406
1 c.405+33C>T r.(=) p.(=) g.94939424C>T Copied from the Exome Variant Server ABCD3_000041 1/13004 1/8598 0/4406
1 c.406-24A>G r.(=) p.(=) g.94940675A>G Copied from the Exome Variant Server ABCD3_000042 4/12932 1/8548 3/4384
1 c.438G>T r.(=) p.(=) g.94940731G>T Copied from the Exome Variant Server ABCD3_000043 1/12976 1/8572 0/4404
1 c.470G>A r.(?) p.(Arg157Lys) g.94940763G>A Copied from the Exome Variant Server ABCD3_000044 1/12982 0/8578 1/4404
1 c.495G>A r.(=) p.(=) g.94940788G>A Copied from the Exome Variant Server ABCD3_000045 3/12984 1/8584 2/4400
1 c.503+15A>G r.(=) p.(=) g.94940811A>G Copied from the Exome Variant Server ABCD3_000046 2/12868 0/8524 2/4344
1 c.503+26del r.(=) p.(=) g.94940822del Copied from the Exome Variant Server ABCD3_000047 9/11018 6/7514 3/3504
1 c.565C>T r.(?) p.(Leu189Phe) g.94941231C>T Copied from the Exome Variant Server ABCD3_000048 1/13000 1/8594 0/4406
1 c.598G>A r.(?) p.(Val200Ile) g.94941264G>A Copied from the Exome Variant Server ABCD3_000049 1/13002 0/8596 1/4406
1 c.627+12T>A r.(=) p.(=) g.94941305T>A Copied from the Exome Variant Server ABCD3_000050 1/12994 1/8590 0/4404
1 c.627+32G>C r.(=) p.(=) g.94941325G>C Copied from the Exome Variant Server ABCD3_000051 1/12944 0/8558 1/4386
1 c.628-25G>A r.(=) p.(=) g.94943790G>A Copied from the Exome Variant Server ABCD3_000052 2/12962 0/8560 2/4402
1 c.628-14_628-11del r.(=) p.(=) g.94943801_94943804del Copied from the Exome Variant Server ABCD3_000053 60/12468 45/8210 15/4258
1 c.666G>A r.(=) p.(=) g.94943853G>A Copied from the Exome Variant Server ABCD3_000054 1/12980 0/8578 1/4402
1 c.684+3G>T r.spl? p.? g.94943874G>T Copied from the Exome Variant Server ABCD3_000055 1/12984 1/8582 0/4402
1 c.684+21A>G r.(=) p.(=) g.94943892A>G Copied from the Exome Variant Server ABCD3_000056 3/12960 2/8564 1/4396
1 c.684+28A>G r.(=) p.(=) g.94943899A>G Copied from the Exome Variant Server ABCD3_000057 1/12926 0/8550 1/4376
1 c.684+262G>A r.(=) p.(=) g.94944133G>A Copied from the Exome Variant Server ABCD3_000058 24/10296 0/7160 24/3136
1 c.827+12T>A r.(=) p.(=) g.94946174T>A Copied from the Exome Variant Server ABCD3_000059 1/13006 0/8600 1/4406
1 c.827+43A>G r.(=) p.(=) g.94946205A>G Copied from the Exome Variant Server ABCD3_000060 33/13000 31/8598 2/4402
1 c.828-20T>C r.(=) p.(=) g.94948706T>C Copied from the Exome Variant Server ABCD3_000061 2/12998 2/8592 0/4406
1 c.849T>C r.(=) p.(=) g.94948747T>C Copied from the Exome Variant Server ABCD3_000062 18/13006 0/8600 18/4406
1 c.897+42del r.(=) p.(=) g.94948837del Copied from the Exome Variant Server ABCD3_000063 12/12520 6/8254 6/4266
1 c.898-41T>G r.(=) p.(=) g.94953057T>G Copied from the Exome Variant Server ABCD3_000064 2/12902 0/8548 2/4354
1 c.898-25G>T r.(=) p.(=) g.94953073G>T Copied from the Exome Variant Server ABCD3_000065 52/12984 0/8584 52/4400
1 c.900G>A r.(=) p.(=) g.94953100G>A Copied from the Exome Variant Server ABCD3_000067 1/13000 0/8596 1/4404
1 c.957T>C r.(=) p.(=) g.94953157T>C Copied from the Exome Variant Server ABCD3_000070 18/13006 0/8600 18/4406
1 c.967+26A>G r.(=) p.(=) g.94953193A>G Copied from the Exome Variant Server ABCD3_000072 1/13006 1/8600 0/4406
1 c.968-36C>T r.(=) p.(=) g.94953214C>T Copied from the Exome Variant Server ABCD3_000073 47/13004 0/8600 47/4404
1 c.968-29T>C r.(=) p.(=) g.94953221T>C Copied from the Exome Variant Server ABCD3_000076 1/13004 1/8600 0/4404
1 c.968-24T>C r.(=) p.(=) g.94953226T>C Copied from the Exome Variant Server ABCD3_000078 1/13004 0/8600 1/4404
1 c.968-21A>G r.(=) p.(=) g.94953229A>G Copied from the Exome Variant Server ABCD3_000080 1/13004 0/8600 1/4404
1 c.997G>C r.(?) p.(Val333Leu) g.94953279G>C Copied from the Exome Variant Server ABCD3_000081 1/13006 1/8600 0/4406
1 c.1065+7T>G r.(=) p.(=) g.94953354T>G Copied from the Exome Variant Server ABCD3_000084 2/13006 2/8600 0/4406
1 c.1065+12A>G r.(=) p.(=) g.94953359A>G Copied from the Exome Variant Server ABCD3_000085 4/13006 0/8600 4/4406
1 c.1065+23A>G r.(=) p.(=) g.94953370A>G Copied from the Exome Variant Server ABCD3_000066 1/13006 1/8600 0/4406
1 c.1065+31A>G r.(=) p.(=) g.94953378A>G Copied from the Exome Variant Server ABCD3_000068 1/13006 0/8600 1/4406
1 c.1065+33A>G r.(=) p.(=) g.94953380A>G Copied from the Exome Variant Server ABCD3_000069 1/13004 1/8598 0/4406
1 c.1065+39A>C r.(=) p.(=) g.94953386A>C Copied from the Exome Variant Server ABCD3_000071 1/13000 0/8594 1/4406
1 c.1157+42del r.(=) p.(=) g.94953581del Copied from the Exome Variant Server ABCD3_000074 3/12386 1/8212 2/4174
1 c.1157+50A>G r.(=) p.(=) g.94953589A>G Copied from the Exome Variant Server ABCD3_000075 1/12838 1/8544 0/4294
1 c.1158-23G>C r.(=) p.(=) g.94955258G>C Copied from the Exome Variant Server ABCD3_000077 196/12998 0/8598 196/4400
1 c.1213A>C r.(?) p.(Lys405Gln) g.94955336A>C Copied from the Exome Variant Server ABCD3_000079 1/13006 0/8600 1/4406
1 c.1249+28C>T r.(=) p.(=) g.94955400C>T Copied from the Exome Variant Server ABCD3_000082 28/13006 0/8600 28/4406
1 c.1250-26G>A r.(=) p.(=) g.94955433G>A Copied from the Exome Variant Server ABCD3_000083 1/13004 1/8598 0/4406
1 c.1264C>G r.(?) p.(Gln422Glu) g.94955473C>G Copied from the Exome Variant Server ABCD3_000139 1/13006 1/8600 0/4406
1 c.1274C>T r.(?) p.(Pro425Leu) g.94955483C>T Copied from the Exome Variant Server ABCD3_000086 1/13006 1/8600 0/4406
1 c.1283C>T r.(?) p.(Pro428Leu) g.94955492C>T Copied from the Exome Variant Server ABCD3_000087 1/13006 1/8600 0/4406
1 c.1308A>G r.(=) p.(=) g.94955517A>G Copied from the Exome Variant Server ABCD3_000088 1/13004 1/8598 0/4406
1 c.1322+31T>C r.(=) p.(=) g.94955562T>C Copied from the Exome Variant Server ABCD3_000089 1/12998 0/8592 1/4406
1 c.1323-17A>T r.(=) p.(=) g.94956723A>T Copied from the Exome Variant Server ABCD3_000090 4/12964 3/8580 1/4384
1 c.1323-4A>G r.spl? p.? g.94956736A>G Copied from the Exome Variant Server ABCD3_000091 2/12986 2/8590 0/4396
1 c.1323G>A r.(=) p.(=) g.94956740G>A Copied from the Exome Variant Server ABCD3_000092 2/12992 2/8592 0/4400
1 c.1342G>A r.(?) p.(Ala448Thr) g.94956759G>A Copied from the Exome Variant Server ABCD3_000093 1/13000 1/8596 0/4404
1 c.1356A>G r.(=) p.(=) g.94956773A>G Copied from the Exome Variant Server ABCD3_000094 47/12996 0/8592 47/4404
1 c.1374C>T r.(=) p.(=) g.94956791C>T Copied from the Exome Variant Server ABCD3_000095 23/12992 23/8590 0/4402
1 c.1380T>C r.(=) p.(=) g.94956797T>C Copied from the Exome Variant Server ABCD3_000096 4/12986 0/8584 4/4402
1 c.1386+47del r.(=) p.(=) g.94956850del Copied from the Exome Variant Server ABCD3_000097 1/12472 0/8220 1/4252
1 c.1387-41G>A r.(=) p.(=) g.94964117G>A Copied from the Exome Variant Server ABCD3_000098 12/12986 0/8594 12/4392
1 c.1390C>T r.(?) p.(Arg464*) g.94964161C>T Copied from the Exome Variant Server ABCD3_000099 1/13004 0/8598 1/4406
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