Full data view for gene ACOT9

Information The variants shown are described using the NM_001033583.2 transcript reference sequence.

75 entries on 1 page. Showing entries 1 - 75.
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.20+48G>A r.(=) p.(=) g.23761194C>T Copied from the Exome Variant Server ACOT9_000075 5/10011 0/6344 5/3667 - - - - - - -
?/? c.21-28C>T r.(=) p.(=) g.23754161G>A Copied from the Exome Variant Server ACOT9_000074 288/10563 1/6728 287/3835 - - - - - - -
?/? c.118+19T>C r.(=) p.(=) g.23754017A>G Copied from the Exome Variant Server ACOT9_000073 2/10563 0/6728 2/3835 - - - - - - -
?/? c.118+30T>G r.(=) p.(=) g.23754006A>C Copied from the Exome Variant Server ACOT9_000072 2/10563 0/6728 2/3835 - - - - - - -
?/? c.119-1205T>C r.(=) p.(=) g.23752539A>G Copied from the Exome Variant Server ACOT9_000071 144/3591 118/2382 26/1209 - - - - - - -
?/? c.119-1167T>G r.(=) p.(=) g.23752501A>C Copied from the Exome Variant Server ACOT9_000070 1/9431 1/6363 0/3068 - - - - - - -
?/? c.119-1153T>C r.(=) p.(=) g.23752487A>G Copied from the Exome Variant Server ACOT9_000069 1/9449 0/6369 1/3080 - - - - - - -
?/? c.119-1123G>A r.(=) p.(=) g.23752457C>T Copied from the Exome Variant Server ACOT9_000068 1/9500 1/6388 0/3112 - - - - - - -
?/? c.119-58A>G r.(=) p.(=) g.23751392T>C Copied from the Exome Variant Server ACOT9_000067 14/3600 0/2391 14/1209 - - - - - - -
?/? c.119-51G>A r.(=) p.(=) g.23751385C>T Copied from the Exome Variant Server ACOT9_000066 3/10563 3/6728 0/3835 - - - - - - -
?/? c.164+7A>G r.(=) p.(=) g.23751282T>C Copied from the Exome Variant Server ACOT9_000065 1/10563 0/6728 1/3835 - - - - - - -
?/? c.164+29T>C r.(=) p.(=) g.23751260A>G Copied from the Exome Variant Server ACOT9_000064 31/10563 0/6728 31/3835 - - - - - - -
?/? c.164+36C>T r.(=) p.(=) g.23751253G>A Copied from the Exome Variant Server ACOT9_000063 66/10563 0/6728 66/3835 - - - - - - -
?/? c.165-21T>A r.(=) p.(=) g.23749124A>T Copied from the Exome Variant Server ACOT9_000062 7/10563 5/6728 2/3835 - - - - - - -
?/? c.178G>A r.(?) p.(Ala60Thr) g.23749090C>T Copied from the Exome Variant Server ACOT9_000061 1/10563 1/6728 0/3835 - - - - - - -
?/? c.188A>G r.(?) p.(Glu63Gly) g.23749080T>C Copied from the Exome Variant Server ACOT9_000060 32/10563 0/6728 32/3835 - - - - - - -
?/? c.273C>T r.(=) p.(=) g.23748995G>A Copied from the Exome Variant Server ACOT9_000059 6/10563 0/6728 6/3835 - - - - - - -
?/? c.296A>G r.(?) p.(Glu99Gly) g.23748972T>C Copied from the Exome Variant Server ACOT9_000058 31/10563 0/6728 31/3835 - - - - - - -
?/? c.331G>A r.(?) p.(Val111Ile) g.23748937C>T Copied from the Exome Variant Server ACOT9_000057 3/10563 0/6728 3/3835 - - - - - - -
?/? c.335+38C>A r.(=) p.(=) g.23748895G>T Copied from the Exome Variant Server ACOT9_000056 2/10561 0/6726 2/3835 - - - - - - -
?/? c.336-39A>G r.(=) p.(=) g.23748720T>C Copied from the Exome Variant Server ACOT9_000055 1253/10562 12/6727 1241/3835 - - - - - - -
?/? c.373+33A>G r.(=) p.(=) g.23748611T>C Copied from the Exome Variant Server ACOT9_000054 1/10563 1/6728 0/3835 - - - - - - -
?/? c.409G>C r.(?) p.(Ala137Pro) g.23740835C>G Copied from the Exome Variant Server ACOT9_000053 1/10563 1/6728 0/3835 - - - - - - -
?/? c.457+11T>C r.(=) p.(=) g.23740776A>G Copied from the Exome Variant Server ACOT9_000052 1/10563 1/6728 0/3835 - - - - - - -
?/? c.509A>G r.(?) p.(His170Arg) g.23740050T>C Copied from the Exome Variant Server ACOT9_000051 2/10563 2/6728 0/3835 - - - - - - -
?/? c.522C>T r.(=) p.(=) g.23740037G>A Copied from the Exome Variant Server ACOT9_000050 2/10563 0/6728 2/3835 - - - - - - -
?/? c.555G>A r.(?) p.(Met185Ile) g.23740004C>T Copied from the Exome Variant Server ACOT9_000049 3/10563 0/6728 3/3835 - - - - - - -
?/? c.561+11G>A r.(=) p.(=) g.23739987C>T Copied from the Exome Variant Server ACOT9_000048 2/10563 2/6728 0/3835 - - - - - - -
?/? c.561+26A>T r.(=) p.(=) g.23739972T>A Copied from the Exome Variant Server ACOT9_000047 1/10563 1/6728 0/3835 - - - - - - -
?/? c.562-38A>G r.(=) p.(=) g.23731363T>C Copied from the Exome Variant Server ACOT9_000046 4/10563 4/6728 0/3835 - - - - - - -
?/? c.566A>G r.(?) p.(His189Arg) g.23731321T>C Copied from the Exome Variant Server ACOT9_000045 54/10563 52/6728 2/3835 - - - - - - -
?/? c.592G>A r.(?) p.(Asp198Asn) g.23731295C>T Copied from the Exome Variant Server ACOT9_000044 1/10563 0/6728 1/3835 - - - - - - -
?/? c.635+24C>A r.(=) p.(=) g.23731228G>T Copied from the Exome Variant Server ACOT9_000043 1/10557 0/6728 1/3829 - - - - - - -
?/? c.635+47A>C r.(=) p.(=) g.23731205T>G Copied from the Exome Variant Server ACOT9_000042 149/10540 134/6720 15/3820 - - - - - - -
?/? c.636-62_636-57del r.(=) p.(=) g.23726118_23726123del Copied from the Exome Variant Server ACOT9_000041 65/10026 62/6387 3/3639 - - - - - - -
?/? c.636-48T>G r.(=) p.(=) g.23726109A>C Copied from the Exome Variant Server ACOT9_000040 7/10445 7/6668 0/3777 - - - - - - -
?/? c.653C>T r.(?) p.(Pro218Leu) g.23726044G>A Copied from the Exome Variant Server ACOT9_000039 2/10560 2/6725 0/3835 - - - - - - -
?/? c.703+51G>A r.(=) p.(=) g.23725943C>T Copied from the Exome Variant Server ACOT9_000038 1/10417 0/6659 1/3758 - - - - - - -
?/? c.704-41C>T r.(=) p.(=) g.23724897G>A Copied from the Exome Variant Server ACOT9_000037 1/10563 0/6728 1/3835 - - - - - - -
?/? c.704-40G>A r.(=) p.(=) g.23724896C>T Copied from the Exome Variant Server ACOT9_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.704-34C>A r.(=) p.(=) g.23724890G>T Copied from the Exome Variant Server ACOT9_000035 1/10563 0/6728 1/3835 - - - - - - -
?/? c.704-27A>G r.(=) p.(=) g.23724883T>C Copied from the Exome Variant Server ACOT9_000034 1/10563 0/6728 1/3835 - - - - - - -
?/? c.704-4C>T r.spl? p.? g.23724860G>A Copied from the Exome Variant Server ACOT9_000033 1/10563 1/6728 0/3835 - - - - - - -
?/? c.708C>G r.(?) p.(Asn236Lys) g.23724852G>C Copied from the Exome Variant Server ACOT9_000032 1/10563 1/6728 0/3835 - - - - - - -
?/? c.732C>T r.(=) p.(=) g.23724828G>A Copied from the Exome Variant Server ACOT9_000031 30/10563 0/6728 30/3835 - - - - - - -
?/? c.737C>T r.(?) p.(Thr246Met) g.23724823G>A Copied from the Exome Variant Server ACOT9_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.762C>T r.(=) p.(=) g.23724798G>A Copied from the Exome Variant Server ACOT9_000029 3/10563 3/6728 0/3835 - - - - - - -
?/? c.763G>A r.(?) p.(Ala255Thr) g.23724797C>T Copied from the Exome Variant Server ACOT9_000028 1/10563 1/6728 0/3835 - - - - - - -
?/? c.815+22G>A r.(=) p.(=) g.23724723C>T Copied from the Exome Variant Server ACOT9_000026 11/10563 0/6728 11/3835 - - - - - - -
?/? c.816-38T>C r.(=) p.(=) g.23724013A>G Copied from the Exome Variant Server ACOT9_000024 6/10558 5/6727 1/3831 - - - - - - -
?/? c.816-13T>C r.(=) p.(=) g.23723988A>G Copied from the Exome Variant Server ACOT9_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.829C>T r.(?) p.(Arg277Trp) g.23723962G>A Copied from the Exome Variant Server ACOT9_000027 5/10563 0/6728 5/3835 - - - - - - -
?/? c.835C>T r.(?) p.(Arg279*) g.23723956G>A Copied from the Exome Variant Server ACOT9_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.887T>C r.(?) p.(Leu296Ser) g.23723904A>G Copied from the Exome Variant Server ACOT9_000023 1/10563 1/6728 0/3835 - - - - - - -
?/? c.906+15T>C r.(=) p.(=) g.23723870A>G Copied from the Exome Variant Server ACOT9_000021 1/10563 0/6728 1/3835 - - - - - - -
?/? c.906+27A>G r.(=) p.(=) g.23723858T>C Copied from the Exome Variant Server ACOT9_000020 1/10563 0/6728 1/3835 - - - - - - -
?/? c.906+41G>A r.(=) p.(=) g.23723844C>T Copied from the Exome Variant Server ACOT9_000019 1/10562 1/6727 0/3835 - - - - - - -
?/? c.907G>C r.(?) p.(Glu303Gln) g.23723711C>G Copied from the Exome Variant Server ACOT9_000018 261/10563 196/6728 65/3835 - - - - - - -
?/? c.969G>A r.(=) p.(=) g.23723649C>T Copied from the Exome Variant Server ACOT9_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.992+45T>C r.(=) p.(=) g.23723581A>G Copied from the Exome Variant Server ACOT9_000016 133/10563 0/6728 133/3835 - - - - - - -
?/? c.993-6del r.(=) p.(=) g.23723203del Copied from the Exome Variant Server ACOT9_000015 5/10205 0/6484 5/3721 - - - - - - -
?/? c.1004C>T r.(?) p.(Pro335Leu) g.23723186G>A Copied from the Exome Variant Server ACOT9_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1005G>A r.(=) p.(=) g.23723185C>T Copied from the Exome Variant Server ACOT9_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1080+26A>G r.(=) p.(=) g.23723084T>C Copied from the Exome Variant Server ACOT9_000012 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1081-47C>T r.(=) p.(=) g.23723008G>A Copied from the Exome Variant Server ACOT9_000011 595/10563 0/6728 595/3835 - - - - - - -
?/? c.1081-12A>G r.(=) p.(=) g.23722973T>C Copied from the Exome Variant Server ACOT9_000010 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1136C>G r.(?) p.(Ser379Cys) g.23722906G>C Copied from the Exome Variant Server ACOT9_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1140G>T r.(=) p.(=) g.23722902C>A Copied from the Exome Variant Server ACOT9_000008 32/10563 2/6728 30/3835 - - - - - - -
?/? c.1157C>T r.(?) p.(Thr386Ile) g.23722885G>A Copied from the Exome Variant Server ACOT9_000007 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1177T>A r.(?) p.(Phe393Ile) g.23722865A>T Copied from the Exome Variant Server ACOT9_000006 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1207T>C r.(=) p.(=) g.23722835A>G Copied from the Exome Variant Server ACOT9_000005 1661/10563 1265/6728 396/3835 - - - - - - -
?/? c.1226_1227del r.(?) p.(Tyr409Trpfs*53) g.23722815_23722816del Copied from the Exome Variant Server ACOT9_000004 1/10205 1/6484 0/3721 - - - - - - -
?/? c.1260G>C r.(=) p.(=) g.23722071C>G Copied from the Exome Variant Server ACOT9_000003 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1286C>T r.(?) p.(Ala429Val) g.23722045G>A Copied from the Exome Variant Server ACOT9_000002 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1305C>T r.(=) p.(=) g.23722026G>A Copied from the Exome Variant Server ACOT9_000001 1/10563 0/6728 1/3835 - - - - - - -
Legend