All transcript variants in gene AARSD1

Information The variants shown are described using the NM_001261434.1 transcript reference sequence.

94 entries on 1 page. Showing entries 1 - 94.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.40-43_40-38del r.(=) p.(=) g.41116292_41116297del Copied from the Exome Variant Server AARSD1_000094 12419/12434 8185/8192 4234/4242
?/? c.40-3C>G r.spl? p.? g.41116257G>C Copied from the Exome Variant Server AARSD1_000093 2/13006 1/8600 1/4406
?/? c.60C>T r.(=) p.(=) g.41116234G>A Copied from the Exome Variant Server AARSD1_000092 12031/13006 8593/8600 3438/4406
?/? c.110_111insT r.(?) p.(Leu38Alafs*16) g.41116183_41116184insA Copied from the Exome Variant Server AARSD1_000091 1/12518 1/8254 0/4264
?/? c.117C>T r.(=) p.(=) g.41116177G>A Copied from the Exome Variant Server AARSD1_000090 1/13006 1/8600 0/4406
?/? c.118G>T r.(?) p.(Gly40Cys) g.41116176C>A Copied from the Exome Variant Server AARSD1_000089 1/13006 1/8600 0/4406
?/? c.124C>T r.(?) p.(Gln42*) g.41116170G>A Copied from the Exome Variant Server AARSD1_000088 17/13006 0/8600 17/4406
?/? c.167G>A r.(?) p.(Gly56Glu) g.41116127C>T Copied from the Exome Variant Server AARSD1_000087 8/13006 8/8600 0/4406
?/? c.171+38C>G r.(=) p.(=) g.41116085G>C Copied from the Exome Variant Server AARSD1_000086 1/13006 1/8600 0/4406
?/? c.171+39T>A r.(=) p.(=) g.41116084A>T Copied from the Exome Variant Server AARSD1_000085 1/13006 0/8600 1/4406
?/? c.171+47C>T r.(=) p.(=) g.41116076G>A Copied from the Exome Variant Server AARSD1_000084 3/13006 3/8600 0/4406
?/? c.171+52C>T r.(=) p.(=) g.41116071G>A Copied from the Exome Variant Server AARSD1_000083 1/5734 0/3982 1/1752
?/? c.172-45G>A r.(=) p.(=) g.41113413C>T Copied from the Exome Variant Server AARSD1_000082 1/13006 1/8600 0/4406
?/? c.175G>A r.(?) p.(Asp59Asn) g.41113365C>T Copied from the Exome Variant Server AARSD1_000081 2/13006 2/8600 0/4406
?/? c.198C>T r.(=) p.(=) g.41113342G>A Copied from the Exome Variant Server AARSD1_000080 1/13006 1/8600 0/4406
?/? c.199A>G r.(?) p.(Ile67Val) g.41113341T>C Copied from the Exome Variant Server AARSD1_000079 1/13006 0/8600 1/4406
?/? c.203C>T r.(?) p.(Ser68Phe) g.41113337G>A Copied from the Exome Variant Server AARSD1_000078 1/13006 1/8600 0/4406
?/? c.221G>A r.(?) p.(Arg74His) g.41113319C>T Copied from the Exome Variant Server AARSD1_000077 4/13006 1/8600 3/4406
?/? c.224G>A r.(?) p.(Arg75His) g.41113316C>T Copied from the Exome Variant Server AARSD1_000076 1/13006 1/8600 0/4406
?/? c.235G>C r.(?) p.(Ala79Pro) g.41113305C>G Copied from the Exome Variant Server AARSD1_000075 1/13006 1/8600 0/4406
?/? c.258C>G r.(=) p.(=) g.41113282G>C Copied from the Exome Variant Server AARSD1_000074 1/13006 0/8600 1/4406
?/? c.289G>T r.(?) p.(Val97Leu) g.41113251C>A Copied from the Exome Variant Server AARSD1_000073 1/13006 0/8600 1/4406
?/? c.297G>A r.(?) p.(Trp99*) g.41113243C>T Copied from the Exome Variant Server AARSD1_000072 1/13006 0/8600 1/4406
?/? c.331+35A>T r.(=) p.(=) g.41113174T>A Copied from the Exome Variant Server AARSD1_000071 118/13006 0/8600 118/4406
?/? c.332-12C>G r.(=) p.(=) g.41109224G>C Copied from the Exome Variant Server AARSD1_000070 5/13006 0/8600 5/4406
?/? c.345C>T r.(=) p.(=) g.41109199G>A Copied from the Exome Variant Server AARSD1_000069 1/13006 0/8600 1/4406
?/? c.346A>G r.(?) p.(Thr116Ala) g.41109198T>C Copied from the Exome Variant Server AARSD1_000068 3/13006 0/8600 3/4406
?/? c.354T>G r.(=) p.(=) g.41109190A>C Copied from the Exome Variant Server AARSD1_000067 2/13006 2/8600 0/4406
?/? c.356C>T r.(?) p.(Ala119Val) g.41109188G>A Copied from the Exome Variant Server AARSD1_000066 1/13006 0/8600 1/4406
?/? c.364C>A r.(?) p.(Leu122Ile) g.41109180G>T Copied from the Exome Variant Server AARSD1_000065 1/13006 1/8600 0/4406
?/? c.389+63G>A r.(=) p.(=) g.41109092C>T Copied from the Exome Variant Server AARSD1_000064 8/4566 0/3182 8/1384
?/? c.390-31A>T r.(=) p.(=) g.41108608T>A Copied from the Exome Variant Server AARSD1_000063 1/13006 0/8600 1/4406
?/? c.390-16A>C r.(=) p.(=) g.41108593T>G Copied from the Exome Variant Server AARSD1_000062 1/13006 1/8600 0/4406
?/? c.406C>T r.(?) p.(Arg136Trp) g.41108561G>A Copied from the Exome Variant Server AARSD1_000061 1/13006 1/8600 0/4406
?/? c.426C>A r.(?) p.(Asp142Glu) g.41108541G>T Copied from the Exome Variant Server AARSD1_000060 2/13006 0/8600 2/4406
?/? c.471C>T r.(=) p.(=) g.41108496G>A Copied from the Exome Variant Server AARSD1_000059 1/13006 1/8600 0/4406
?/? c.513A>C r.(=) p.(=) g.41108454T>G Copied from the Exome Variant Server AARSD1_000058 83/13006 77/8600 6/4406
?/? c.529G>A r.(?) p.(Asp177Asn) g.41108438C>T Copied from the Exome Variant Server AARSD1_000057 42/13006 0/8600 42/4406
?/? c.546+7del r.(=) p.(=) g.41108414del Copied from the Exome Variant Server AARSD1_000056 62/12516 7/8254 55/4262
?/? c.546+31C>T r.(=) p.(=) g.41108390G>A Copied from the Exome Variant Server AARSD1_000055 1/13006 0/8600 1/4406
?/? c.546+41C>G r.(=) p.(=) g.41108380G>C Copied from the Exome Variant Server AARSD1_000054 1/13006 0/8600 1/4406
?/? c.547-27C>T r.(=) p.(=) g.41108364G>A Copied from the Exome Variant Server AARSD1_000053 2/13006 2/8600 0/4406
?/? c.603C>T r.(=) p.(=) g.41108281G>A Copied from the Exome Variant Server AARSD1_000052 1/13006 0/8600 1/4406
?/? c.663+14G>C r.(=) p.(=) g.41108207C>G Copied from the Exome Variant Server AARSD1_000051 1/13006 0/8600 1/4406
?/? c.664-15C>T r.(=) p.(=) g.41108004G>A Copied from the Exome Variant Server AARSD1_000050 429/13006 3/8600 426/4406
?/? c.664-9C>T r.(=) p.(=) g.41107998G>A Copied from the Exome Variant Server AARSD1_000049 1/13006 0/8600 1/4406
?/? c.733C>T r.(?) p.(Arg245Trp) g.41107920G>A Copied from the Exome Variant Server AARSD1_000048 2/13006 2/8600 0/4406
?/? c.794+48C>T r.(=) p.(=) g.41107811G>A Copied from the Exome Variant Server AARSD1_000047 2/13006 0/8600 2/4406
?/? c.794+49G>A r.(=) p.(=) g.41107810C>T Copied from the Exome Variant Server AARSD1_000046 3/13006 1/8600 2/4406
?/? c.795-44C>T r.(=) p.(=) g.41107285G>A Copied from the Exome Variant Server AARSD1_000045 759/13006 56/8600 703/4406
?/? c.795-41C>T r.(=) p.(=) g.41107282G>A Copied from the Exome Variant Server AARSD1_000044 1/13006 1/8600 0/4406
?/? c.795-33C>G r.(=) p.(=) g.41107274G>C Copied from the Exome Variant Server AARSD1_000043 35/13006 0/8600 35/4406
?/? c.795-30C>T r.(=) p.(=) g.41107271G>A Copied from the Exome Variant Server AARSD1_000042 3/13006 0/8600 3/4406
?/? c.795G>A r.(=) p.(=) g.41107241C>T Copied from the Exome Variant Server AARSD1_000041 1/13006 1/8600 0/4406
?/? c.812A>T r.(?) p.(His271Leu) g.41107224T>A Copied from the Exome Variant Server AARSD1_000040 1/13006 1/8600 0/4406
?/? c.861+49A>G r.(=) p.(=) g.41107126T>C Copied from the Exome Variant Server AARSD1_000039 2/13006 2/8600 0/4406
?/? c.863A>G r.(?) p.(Asn288Ser) g.41106983T>C Copied from the Exome Variant Server AARSD1_000038 8/13006 0/8600 8/4406
?/? c.886C>G r.(?) p.(Leu296Val) g.41106960G>C Copied from the Exome Variant Server AARSD1_000037 3/13006 0/8600 3/4406
?/? c.918C>T r.(=) p.(=) g.41106928G>A Copied from the Exome Variant Server AARSD1_000036 41/13006 37/8600 4/4406
?/? c.941T>C r.(?) p.(Val314Ala) g.41106905A>G Copied from the Exome Variant Server AARSD1_000035 2/13006 1/8600 1/4406
?/? c.942C>T r.(=) p.(=) g.41106904G>A Copied from the Exome Variant Server AARSD1_000034 1/13006 1/8600 0/4406
?/? c.953+40_953+41del r.(=) p.(=) g.41106852_41106853del Copied from the Exome Variant Server AARSD1_000033 3/12518 3/8254 0/4264
?/? c.954-73del r.(=) p.(=) g.41105868del Copied from the Exome Variant Server AARSD1_000032 1/12518 1/8254 0/4264
?/? c.954-14_954-12del r.(=) p.(=) g.41105807_41105809del Copied from the Exome Variant Server AARSD1_000031 7/12518 0/8254 7/4264
?/? c.962G>T r.(?) p.(Gly321Val) g.41105787C>A Copied from the Exome Variant Server AARSD1_000030 4/13006 4/8600 0/4406
?/? c.988G>A r.(?) p.(Ala330Thr) g.41105761C>T Copied from the Exome Variant Server AARSD1_000029 1/13006 0/8600 1/4406
?/? c.996G>T r.(?) p.(Glu332Asp) g.41105753C>A Copied from the Exome Variant Server AARSD1_000028 1/13006 0/8600 1/4406
?/? c.1008+20C>T r.(=) p.(=) g.41105721G>A Copied from the Exome Variant Server AARSD1_000027 1/13006 0/8600 1/4406
?/? c.1008+29G>A r.(=) p.(=) g.41105712C>T Copied from the Exome Variant Server AARSD1_000026 51/13006 6/8600 45/4406
?/? c.1008+31C>A r.(=) p.(=) g.41105710G>T Copied from the Exome Variant Server AARSD1_000025 1/13006 0/8600 1/4406
?/? c.1008+42A>T r.(=) p.(=) g.41105699T>A Copied from the Exome Variant Server AARSD1_000024 2/13006 2/8600 0/4406
?/? c.1009-49A>T r.(=) p.(=) g.41103960T>A Copied from the Exome Variant Server AARSD1_000023 1/13004 1/8598 0/4406
?/? c.1009-37del r.(=) p.(=) g.41103948del Copied from the Exome Variant Server AARSD1_000022 136/12514 5/8252 131/4262
?/? c.1009-27A>G r.(=) p.(=) g.41103938T>C Copied from the Exome Variant Server AARSD1_000021 12927/13002 8596/8598 4331/4404
?/? c.1009-25C>G r.(=) p.(=) g.41103936G>C Copied from the Exome Variant Server AARSD1_000020 10/13004 0/8598 10/4406
?/? c.1035C>T r.(=) p.(=) g.41103885G>A Copied from the Exome Variant Server AARSD1_000019 3/13006 0/8600 3/4406
?/? c.1049G>C r.(?) p.(Gly350Ala) g.41103871C>G Copied from the Exome Variant Server AARSD1_000018 5/13006 5/8600 0/4406
?/? c.1078G>A r.(?) p.(Ala360Thr) g.41103842C>T Copied from the Exome Variant Server AARSD1_000017 2/13006 2/8600 0/4406
?/? c.1079C>T r.(?) p.(Ala360Val) g.41103841G>A Copied from the Exome Variant Server AARSD1_000016 1/13006 1/8600 0/4406
?/? c.1081T>C r.(?) p.(Ser361Pro) g.41103839A>G Copied from the Exome Variant Server AARSD1_000015 3/13006 3/8600 0/4406
?/? c.1103+42T>C r.(=) p.(=) g.41103775A>G Copied from the Exome Variant Server AARSD1_000014 1/13006 1/8600 0/4406
?/? c.1104-48T>C r.(=) p.(=) g.41102793A>G Copied from the Exome Variant Server AARSD1_000013 2/13002 1/8596 1/4406
?/? c.1104-38del r.(=) p.(=) g.41102783del Copied from the Exome Variant Server AARSD1_000012 3/12516 1/8252 2/4264
?/? c.1104-13del r.(=) p.(=) g.41102758del Copied from the Exome Variant Server AARSD1_000011 1/12516 1/8252 0/4264
?/? c.1104-1G>T r.spl? p.? g.41102746C>A Copied from the Exome Variant Server AARSD1_000010 1/13006 0/8600 1/4406
?/? c.1116C>T r.(=) p.(=) g.41102733G>A Copied from the Exome Variant Server AARSD1_000009 1/13006 0/8600 1/4406
?/? c.1119G>A r.(=) p.(=) g.41102730C>T Copied from the Exome Variant Server AARSD1_000008 1/13006 0/8600 1/4406
?/? c.1123G>T r.(?) p.(Gly375Cys) g.41102726C>A Copied from the Exome Variant Server AARSD1_000007 1/13006 0/8600 1/4406
?/? c.1145G>A r.(?) p.(Gly382Asp) g.41102704C>T Copied from the Exome Variant Server AARSD1_000006 1/13006 1/8600 0/4406
?/? c.1177C>T r.(?) p.(Arg393Trp) g.41102672G>A Copied from the Exome Variant Server AARSD1_000005 1/13006 1/8600 0/4406
?/? c.1178G>A r.(?) p.(Arg393Gln) g.41102671C>T Copied from the Exome Variant Server AARSD1_000004 3/13006 1/8600 2/4406
?/? c.1221G>T r.(=) p.(=) g.41102628C>A Copied from the Exome Variant Server AARSD1_000003 1/13006 1/8600 0/4406
?/? c.*13C>T r.(=) p.(=) g.41102597G>A Copied from the Exome Variant Server AARSD1_000002 1/13006 1/8600 0/4406
?/? c.*41T>C r.(=) p.(=) g.41102569A>G Copied from the Exome Variant Server AARSD1_000001 1/13006 0/8600 1/4406
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