Unique variants in gene AACS

Information The variants shown are described using the NM_023928.3 transcript reference sequence.

188 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.41A>T r.(?) p.(Glu14Val) g.125550171A>T Copied from the Exome Variant Server AACS_000001 2/11724 0/7806 2/3918
1 c.47A>G r.(?) p.(Gln16Arg) g.125550177A>G Copied from the Exome Variant Server AACS_000002 1/11774 1/7822 0/3952
1 c.70_72del r.(?) p.(Lys25del) g.125550200_125550202del Copied from the Exome Variant Server AACS_000003 1/11296 1/7508 0/3788
1 c.90del r.(?) p.(Arg31Alafs*97) g.125550220del Copied from the Exome Variant Server AACS_000004 2/11200 1/7424 1/3776
1 c.102G>A r.(=) p.(=) g.125550232G>A Copied from the Exome Variant Server AACS_000005 4/11666 4/7742 0/3924
1 c.133+40C>A r.(=) p.(=) g.125550303C>A Copied from the Exome Variant Server AACS_000006 438/10124 12/6692 426/3432
1 c.134-14T>A r.(=) p.(=) g.125558408T>A Copied from the Exome Variant Server AACS_000007 4/13006 3/8600 1/4406
1 c.149T>C r.(?) p.(Leu50Ser) g.125558437T>C Copied from the Exome Variant Server AACS_000008 1/13006 1/8600 0/4406
1 c.237+18G>A r.(=) p.(=) g.125558543G>A Copied from the Exome Variant Server AACS_000009 141/13006 133/8600 8/4406
1 c.238-46C>T r.(=) p.(=) g.125560991C>T Copied from the Exome Variant Server AACS_000010 1/13006 1/8600 0/4406
1 c.238-37A>G r.(=) p.(=) g.125561000A>G Copied from the Exome Variant Server AACS_000011 1/13006 1/8600 0/4406
1 c.238-37_238-36del r.(=) p.(=) g.125561000_125561001del Copied from the Exome Variant Server AACS_000012 1/12518 1/8254 0/4264
1 c.238-27G>A r.(=) p.(=) g.125561010G>A Copied from the Exome Variant Server AACS_000013 10/13006 0/8600 10/4406
1 c.238-15T>C r.(=) p.(=) g.125561022T>C Copied from the Exome Variant Server AACS_000014 16/13006 13/8600 3/4406
1 c.251C>T r.(?) p.(Ser84Leu) g.125561050C>T Copied from the Exome Variant Server AACS_000016 1/13006 0/8600 1/4406
1 c.252G>A r.(=) p.(=) g.125561051G>A Copied from the Exome Variant Server AACS_000018 1/13006 0/8600 1/4406
1 c.261C>T r.(=) p.(=) g.125561060C>T Copied from the Exome Variant Server AACS_000015 1/13006 1/8600 0/4406
1 c.273C>T r.(=) p.(=) g.125561072C>T Copied from the Exome Variant Server AACS_000017 1/13006 1/8600 0/4406
1 c.289A>G r.(?) p.(Ser97Gly) g.125561088A>G Copied from the Exome Variant Server AACS_000019 2/13006 0/8600 2/4406
1 c.292C>T r.(?) p.(Arg98Trp) g.125561091C>T Copied from the Exome Variant Server AACS_000020 1/13006 1/8600 0/4406
1 c.319C>A r.(=) p.(=) g.125561118C>A Copied from the Exome Variant Server AACS_000021 357/13006 6/8600 351/4406
1 c.352A>G r.(?) p.(Ile118Val) g.125561151A>G Copied from the Exome Variant Server AACS_000022 2521/13006 1229/8600 1292/4406
1 c.359-22T>G r.(=) p.(=) g.125570854T>G Copied from the Exome Variant Server AACS_000023 1/13006 1/8600 0/4406
1 c.404G>A r.(?) p.(Arg135Lys) g.125570921G>A Copied from the Exome Variant Server AACS_000024 1/13006 1/8600 0/4406
1 c.425C>T r.(?) p.(Ala142Val) g.125570942C>T Copied from the Exome Variant Server AACS_000025 1/13006 1/8600 0/4406
1 c.440A>G r.(?) p.(Lys147Arg) g.125570957A>G Copied from the Exome Variant Server AACS_000026 1/13006 1/8600 0/4406
1 c.456A>C r.(?) p.(Lys152Asn) g.125570973A>C Copied from the Exome Variant Server AACS_000027 2/13006 0/8600 2/4406
1 c.472+9T>C r.(=) p.(=) g.125570998T>C Copied from the Exome Variant Server AACS_000028 26/13006 0/8600 26/4406
1 c.472+43A>G r.(=) p.(=) g.125571032A>G Copied from the Exome Variant Server AACS_000029 1/13006 0/8600 1/4406
1 c.472+48_472+49insGAAT r.(=) p.(=) g.125571037_125571038insGAAT Copied from the Exome Variant Server AACS_000030 3/12518 0/8254 3/4264
1 c.473-43A>C r.(=) p.(=) g.125575929A>C Copied from the Exome Variant Server AACS_000031 20/13006 0/8600 20/4406
1 c.473-38C>A r.(=) p.(=) g.125575934C>A Copied from the Exome Variant Server AACS_000032 2/13006 2/8600 0/4406
1 c.473-32A>G r.(=) p.(=) g.125575940A>G Copied from the Exome Variant Server AACS_000033 1/13006 1/8600 0/4406
1 c.489T>A r.(?) p.(Ser163Arg) g.125575988T>A Copied from the Exome Variant Server AACS_000034 2/13006 2/8600 0/4406
1 c.507G>A r.(=) p.(=) g.125576006G>A Copied from the Exome Variant Server AACS_000035 2/13006 2/8600 0/4406
1 c.570+11G>A r.(=) p.(=) g.125576080G>A Copied from the Exome Variant Server AACS_000036 79/13006 69/8600 10/4406
1 c.570+25G>A r.(=) p.(=) g.125576094G>A Copied from the Exome Variant Server AACS_000037 7/13006 6/8600 1/4406
1 c.571-7C>T r.(=) p.(=) g.125587218C>T Copied from the Exome Variant Server AACS_000038 1/13006 0/8600 1/4406
1 c.619G>A r.(?) p.(Val207Met) g.125587273G>A Copied from the Exome Variant Server AACS_000039 1/13006 1/8600 0/4406
1 c.620T>C r.(?) p.(Val207Ala) g.125587274T>C Copied from the Exome Variant Server AACS_000040 1/13006 1/8600 0/4406
1 c.624G>A r.(=) p.(=) g.125587278G>A Copied from the Exome Variant Server AACS_000041 381/13006 55/8600 326/4406
1 c.631G>A r.(?) p.(Val211Ile) g.125587285G>A Copied from the Exome Variant Server AACS_000042 3/13006 0/8600 3/4406
1 c.653A>G r.(?) p.(Asn218Ser) g.125587307A>G Copied from the Exome Variant Server AACS_000043 1/13006 0/8600 1/4406
1 c.670C>T r.(?) p.(Gln224*) g.125587324C>T Copied from the Exome Variant Server AACS_000044 1/13006 0/8600 1/4406
1 c.685+5G>A r.spl? p.? g.125587344G>A Copied from the Exome Variant Server AACS_000045 1/13006 1/8600 0/4406
1 c.685+25C>T r.(=) p.(=) g.125587364C>T Copied from the Exome Variant Server AACS_000046 1/13006 0/8600 1/4406
1 c.686-12C>T r.(=) p.(=) g.125587534C>T Copied from the Exome Variant Server AACS_000047 1/13006 1/8600 0/4406
1 c.706G>T r.(?) p.(Val236Leu) g.125587566G>T Copied from the Exome Variant Server AACS_000048 7/13006 7/8600 0/4406
1 c.719C>G r.(?) p.(Pro240Arg) g.125587579C>G Copied from the Exome Variant Server AACS_000049 1/13006 1/8600 0/4406
1 c.726G>T r.(=) p.(=) g.125587586G>T Copied from the Exome Variant Server AACS_000050 1/13006 1/8600 0/4406
1 c.733A>G r.(?) p.(Arg245Gly) g.125587593A>G Copied from the Exome Variant Server AACS_000051 1/13006 1/8600 0/4406
1 c.767+10C>T r.(=) p.(=) g.125587637C>T Copied from the Exome Variant Server AACS_000052 25/13006 4/8600 21/4406
1 c.767+11G>A r.(=) p.(=) g.125587638G>A Copied from the Exome Variant Server AACS_000053 3/13006 1/8600 2/4406
1 c.768-52G>A r.(=) p.(=) g.125591615G>A Copied from the Exome Variant Server AACS_000054 1/5734 1/3982 0/1752
1 c.768-27C>T r.(=) p.(=) g.125591640C>T Copied from the Exome Variant Server AACS_000055 1/13006 0/8600 1/4406
1 c.768-10C>T r.(=) p.(=) g.125591657C>T Copied from the Exome Variant Server AACS_000056 3/13006 1/8600 2/4406
1 c.796G>A r.(?) p.(Gly266Ser) g.125591695G>A Copied from the Exome Variant Server AACS_000057 1/13006 0/8600 1/4406
1 c.815C>T r.(?) p.(Pro272Leu) g.125591714C>T Copied from the Exome Variant Server AACS_000058 1/13006 0/8600 1/4406
1 c.816G>A r.(=) p.(=) g.125591715G>A Copied from the Exome Variant Server AACS_000059 5/13006 1/8600 4/4406
1 c.828C>T r.(=) p.(=) g.125591727C>T Copied from the Exome Variant Server AACS_000060 6/13006 1/8600 5/4406
1 c.835C>G r.(?) p.(Leu279Val) g.125591734C>G Copied from the Exome Variant Server AACS_000061 7/13006 7/8600 0/4406
1 c.872C>T r.(?) p.(Ser291Leu) g.125591771C>T Copied from the Exome Variant Server AACS_000062 1/13006 1/8600 0/4406
1 c.873G>A r.(=) p.(=) g.125591772G>A Copied from the Exome Variant Server AACS_000063 8/13006 0/8600 8/4406
1 c.881C>T r.(?) p.(Thr294Met) g.125591780C>T Copied from the Exome Variant Server AACS_000064 1/13006 1/8600 0/4406
1 c.897C>A r.(?) p.(Cys299*) g.125591796C>A Copied from the Exome Variant Server AACS_000065 2/13006 0/8600 2/4406
1 c.899T>G r.(?) p.(Met300Arg) g.125591798T>G Copied from the Exome Variant Server AACS_000066 1/13006 1/8600 0/4406
1 c.909C>T r.(=) p.(=) g.125591808C>T Copied from the Exome Variant Server AACS_000067 3/13006 1/8600 2/4406
1 c.915+30C>T r.(=) p.(=) g.125591844C>T Copied from the Exome Variant Server AACS_000068 3696/13006 2460/8600 1236/4406
1 c.916-23G>A r.(=) p.(=) g.125599000G>A Copied from the Exome Variant Server AACS_000069 1/13006 1/8600 0/4406
1 c.916-16C>T r.(=) p.(=) g.125599007C>T Copied from the Exome Variant Server AACS_000070 1/13006 1/8600 0/4406
1 c.916-15G>A r.(=) p.(=) g.125599008G>A Copied from the Exome Variant Server AACS_000071 2/13006 0/8600 2/4406
1 c.954C>T r.(=) p.(=) g.125599061C>T Copied from the Exome Variant Server AACS_000072 2/13006 0/8600 2/4406
1 c.955G>A r.(?) p.(Gly319Ser) g.125599062G>A Copied from the Exome Variant Server AACS_000073 5/13006 0/8600 5/4406
1 c.964A>G r.(?) p.(Thr322Ala) g.125599071A>G Copied from the Exome Variant Server AACS_000074 15/13006 0/8600 15/4406
1 c.995C>T r.(?) p.(Thr332Met) g.125599102C>T Copied from the Exome Variant Server AACS_000075 1/13006 0/8600 1/4406
1 c.996+7G>T r.(=) p.(=) g.125599110G>T Copied from the Exome Variant Server AACS_000076 1/13006 0/8600 1/4406
1 c.996+17G>A r.(=) p.(=) g.125599120G>A Copied from the Exome Variant Server AACS_000077 21/13006 0/8600 21/4406
1 c.996+31T>G r.(=) p.(=) g.125599134T>G Copied from the Exome Variant Server AACS_000078 551/13004 6/8598 545/4406
1 c.996+37A>G r.(=) p.(=) g.125599140A>G Copied from the Exome Variant Server AACS_000079 82/13004 1/8598 81/4406
1 c.997-51G>T r.(=) p.(=) g.125603136G>T Copied from the Exome Variant Server AACS_000080 1/13006 0/8600 1/4406
1 c.997-50G>A r.(=) p.(=) g.125603137G>A Copied from the Exome Variant Server AACS_000081 4/13006 1/8600 3/4406
1 c.997-35C>T r.(=) p.(=) g.125603152C>T Copied from the Exome Variant Server AACS_000082 2210/13006 1996/8600 214/4406
1 c.997-21G>T r.(=) p.(=) g.125603166G>T Copied from the Exome Variant Server AACS_000083 21/13006 0/8600 21/4406
1 c.1033C>T r.(=) p.(=) g.125603223C>T Copied from the Exome Variant Server AACS_000084 44/13006 1/8600 43/4406
1 c.1046C>T r.(?) p.(Ala349Val) g.125603236C>T Copied from the Exome Variant Server AACS_000086 1/13006 1/8600 0/4406
1 c.1062C>T r.(=) p.(=) g.125603252C>T Copied from the Exome Variant Server AACS_000088 2/13006 2/8600 0/4406
1 c.1074C>T r.(=) p.(=) g.125603264C>T Copied from the Exome Variant Server AACS_000090 2/13006 1/8600 1/4406
1 c.1085C>G r.(?) p.(Thr362Arg) g.125603275C>G Copied from the Exome Variant Server AACS_000092 1/13006 0/8600 1/4406
1 c.1089C>T r.(=) p.(=) g.125603279C>T Copied from the Exome Variant Server AACS_000094 4/13006 0/8600 4/4406
1 c.1091A>T r.(?) p.(Asn364Ile) g.125603281A>T Copied from the Exome Variant Server AACS_000096 1/13006 1/8600 0/4406
1 c.1119A>C r.(=) p.(=) g.125603309A>C Copied from the Exome Variant Server AACS_000097 1/13006 1/8600 0/4406
1 c.1121+52G>A r.(=) p.(=) g.125603363G>A Copied from the Exome Variant Server AACS_000085 13/7272 0/4618 13/2654
1 c.1122-43C>A r.(=) p.(=) g.125609208C>A Copied from the Exome Variant Server AACS_000087 3/13006 0/8600 3/4406
1 c.1122-14C>T r.(=) p.(=) g.125609237C>T Copied from the Exome Variant Server AACS_000089 4/13006 3/8600 1/4406
1 c.1122-6C>T r.(=) p.(=) g.125609245C>T Copied from the Exome Variant Server AACS_000091 147/13006 136/8600 11/4406
1 c.1131C>G r.(=) p.(=) g.125609260C>G Copied from the Exome Variant Server AACS_000093 1/13006 0/8600 1/4406
1 c.1161G>A r.(=) p.(=) g.125609290G>A Copied from the Exome Variant Server AACS_000095 1/13006 0/8600 1/4406
1 c.1170G>A r.(=) p.(=) g.125609299G>A Copied from the Exome Variant Server AACS_000098 1/13006 1/8600 0/4406
1 c.1185G>A r.(=) p.(=) g.125609314G>A Copied from the Exome Variant Server AACS_000099 1/13006 1/8600 0/4406
1 c.1186+23C>A r.(=) p.(=) g.125609338C>A Copied from the Exome Variant Server AACS_000100 1/13006 0/8600 1/4406
Legend   « First ‹ Prev     1 2     Next › Last »