Unique variants in gene GABRA3

Information The variants shown are described using the NM_000808.3 transcript reference sequence.

68 entries on 1 page. Showing entries 1 - 68.
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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.-26-29905T>G r.(=) p.(=) g.151562973A>C Copied from the Exome Variant Server GABRA3_000036 1/8125 1/5498 0/2627
1 c.-26-29870T>A r.(=) p.(=) g.151562938A>T Copied from the Exome Variant Server GABRA3_000035 1/8125 1/5498 0/2627
1 c.-26-29822G>T r.(=) p.(=) g.151562890C>A Copied from the Exome Variant Server GABRA3_000034 4/8125 4/5498 0/2627
1 c.-26-29804T>C r.(=) p.(=) g.151562872A>G Copied from the Exome Variant Server GABRA3_000033 3/8125 3/5498 0/2627
1 c.-26-28995T>C r.(=) p.(=) g.151562063A>G Copied from the Exome Variant Server GABRA3_000032 63/3600 2/2391 61/1209
1 c.-26-28977G>A r.(=) p.(=) g.151562045C>T Copied from the Exome Variant Server GABRA3_000031 1/8120 0/5496 1/2624
1 c.-26-28954A>T r.(=) p.(=) g.151562022T>A Copied from the Exome Variant Server GABRA3_000030 55/8125 52/5498 3/2627
1 c.-26-28936C>T r.(=) p.(=) g.151562004G>A Copied from the Exome Variant Server GABRA3_000029 1/8125 0/5498 1/2627
1 c.-26-28920A>G r.(=) p.(=) g.151561988T>C Copied from the Exome Variant Server GABRA3_000028 1/8125 1/5498 0/2627
1 c.-26-28889G>T r.(=) p.(=) g.151561957C>A Copied from the Exome Variant Server GABRA3_000027 1/8125 1/5498 0/2627
1 c.-26-28879T>C r.(=) p.(=) g.151561947A>G Copied from the Exome Variant Server GABRA3_000026 1/8125 1/5498 0/2627
1 c.-26-28781G>A r.(=) p.(=) g.151561849C>T Copied from the Exome Variant Server GABRA3_000025 1/8118 1/5494 0/2624
1 c.-26-27709C>T r.(=) p.(=) g.151560777G>A Copied from the Exome Variant Server GABRA3_000024 3/8125 0/5498 3/2627
1 c.-26-27670G>A r.(=) p.(=) g.151560738C>T Copied from the Exome Variant Server GABRA3_000058 1/8125 1/5498 0/2627
1 c.-26-27651G>A r.(=) p.(=) g.151560719C>T Copied from the Exome Variant Server GABRA3_000057 1/8125 1/5498 0/2627
1 c.-26-27568G>A r.(=) p.(=) g.151560636C>T Copied from the Exome Variant Server GABRA3_000056 28/3600 0/2391 28/1209
1 c.-26-18A>C r.(=) p.(=) g.151533086T>G Copied from the Exome Variant Server GABRA3_000055 1/10563 1/6728 0/3835
1 c.20G>A r.(?) p.(Ser7Asn) g.151533023C>T Copied from the Exome Variant Server GABRA3_000065 1/10563 1/6728 0/3835
1 c.34A>T r.(?) p.(Thr12Ser) g.151533009T>A Copied from the Exome Variant Server GABRA3_000064 17/10563 0/6728 17/3835
1 c.52T>G r.(?) p.(Phe18Val) g.151532991A>C Copied from the Exome Variant Server GABRA3_000063 1/10563 0/6728 1/3835
1 c.112G>A r.(?) p.(Gly38Arg) g.151532931C>T Copied from the Exome Variant Server GABRA3_000062 1/10563 1/6728 0/3835
1 c.140+19T>C r.(=) p.(=) g.151532884A>G Copied from the Exome Variant Server GABRA3_000061 3/10563 3/6728 0/3835
1 c.141-43A>G r.(=) p.(=) g.151514217T>C Copied from the Exome Variant Server GABRA3_000060 4/10560 0/6728 4/3832
1 c.141-22_141-21insT r.(=) p.(=) g.151514195_151514196insA Copied from the Exome Variant Server GABRA3_000059 2578/10203 907/6483 1671/3720
1 c.142C>T r.(=) p.(=) g.151514173G>A Copied from the Exome Variant Server GABRA3_000066 1/10563 1/6728 0/3835
1 c.228C>T r.(=) p.(=) g.151514087G>A Copied from the Exome Variant Server GABRA3_000068 1/10563 1/6728 0/3835
1 c.262+28C>T r.(=) p.(=) g.151514025G>A Copied from the Exome Variant Server GABRA3_000067 9/10563 0/6728 9/3835
1 c.263-57_263-56del r.(=) p.(=) g.151453263_151453264del Copied from the Exome Variant Server GABRA3_000023 1/10203 0/6483 1/3720
1 c.263-5C>T r.spl? p.? g.151453212G>A Copied from the Exome Variant Server GABRA3_000022 7/10563 0/6728 7/3835
1 c.263-1G>T r.spl? p.? g.151453208C>A Copied from the Exome Variant Server GABRA3_000021 1/10563 0/6728 1/3835
1 c.290T>C r.(?) p.(Ile97Thr) g.151453180A>G Copied from the Exome Variant Server GABRA3_000020 1/10563 1/6728 0/3835
1 c.294C>T r.(=) p.(=) g.151453176G>A Copied from the Exome Variant Server GABRA3_000019 1/10563 1/6728 0/3835
1 c.330+21A>G r.(=) p.(=) g.151453119T>C Copied from the Exome Variant Server GABRA3_000018 1/10563 1/6728 0/3835
1 c.331-33C>T r.(=) p.(=) g.151424503G>A Copied from the Exome Variant Server GABRA3_000017 26/10561 1/6726 25/3835
1 c.331-19_331-18insT r.(=) p.(=) g.151424488_151424489insA Copied from the Exome Variant Server GABRA3_000016 2229/10203 682/6482 1547/3721
1 c.331-4C>T r.spl? p.? g.151424474G>A Copied from the Exome Variant Server GABRA3_000015 4/10561 4/6726 0/3835
1 c.551+49G>A r.(=) p.(=) g.151424201C>T Copied from the Exome Variant Server GABRA3_000014 1/10563 0/6728 1/3835
1 c.552-34G>A r.(=) p.(=) g.151393351C>T Copied from the Exome Variant Server GABRA3_000013 6/10563 0/6728 6/3835
1 c.552-24A>G r.(=) p.(=) g.151393341T>C Copied from the Exome Variant Server GABRA3_000012 6/10563 0/6728 6/3835
1 c.552-18T>C r.(=) p.(=) g.151393335A>G Copied from the Exome Variant Server GABRA3_000011 1/10563 0/6728 1/3835
1 c.624G>A r.(=) p.(=) g.151393245C>T Copied from the Exome Variant Server GABRA3_000010 1/10563 0/6728 1/3835
1 c.634+24_634+25del r.(=) p.(=) g.151393210_151393211del Copied from the Exome Variant Server GABRA3_000009 151/10203 95/6483 56/3720
1 c.634+24_634+25dup r.(=) p.(=) g.151393210_151393211dup Copied from the Exome Variant Server GABRA3_000008 274/10203 239/6483 35/3720
1 c.634+45T>A r.(=) p.(=) g.151393190A>T Copied from the Exome Variant Server GABRA3_000007 1/10556 1/6725 0/3831
1 c.642T>C r.(=) p.(=) g.151376609A>G Copied from the Exome Variant Server GABRA3_000006 1/10563 0/6728 1/3835
1 c.717C>A r.(=) p.(=) g.151376534G>T Copied from the Exome Variant Server GABRA3_000005 1/10563 1/6728 0/3835
1 c.753G>T r.(=) p.(=) g.151376498C>A Copied from the Exome Variant Server GABRA3_000004 1/10563 1/6728 0/3835
1 c.778+34G>T r.(=) p.(=) g.151376439C>A Copied from the Exome Variant Server GABRA3_000003 275/10563 2/6728 273/3835
1 c.779-47G>A r.(=) p.(=) g.151366304C>T Copied from the Exome Variant Server GABRA3_000002 1/10563 1/6728 0/3835
1 c.779-42G>A r.(=) p.(=) g.151366299C>T Copied from the Exome Variant Server GABRA3_000001 1/10563 1/6728 0/3835
1 c.779-37T>C r.(=) p.(=) g.151366294A>G Copied from the Exome Variant Server GABRA3_000054 3/10563 3/6728 0/3835
1 c.779-34A>G r.(=) p.(=) g.151366291T>C Copied from the Exome Variant Server GABRA3_000053 1/10563 1/6728 0/3835
1 c.817C>A r.(=) p.(=) g.151366219G>T Copied from the Exome Variant Server GABRA3_000052 1/10563 1/6728 0/3835
1 c.864G>A r.(?) p.(Met288Ile) g.151366172C>T Copied from the Exome Variant Server GABRA3_000051 1/10563 1/6728 0/3835
1 c.931+22G>A r.(=) p.(=) g.151366083C>T Copied from the Exome Variant Server GABRA3_000050 1/10563 1/6728 0/3835
1 c.932-36C>T r.(=) p.(=) g.151358449G>A Copied from the Exome Variant Server GABRA3_000049 3/10563 3/6728 0/3835
1 c.932-9T>C r.(=) p.(=) g.151358422A>G Copied from the Exome Variant Server GABRA3_000048 1/10563 0/6728 1/3835
1 c.1030G>A r.(?) p.(Val344Ile) g.151358315C>T Copied from the Exome Variant Server GABRA3_000047 1/10563 0/6728 1/3835
1 c.1143+7T>C r.(=) p.(=) g.151358195A>G Copied from the Exome Variant Server GABRA3_000046 56/10563 51/6728 5/3835
1 c.1143+16A>G r.(=) p.(=) g.151358186T>C Copied from the Exome Variant Server GABRA3_000045 2/10563 2/6728 0/3835
1 c.1143+20A>G r.(=) p.(=) g.151358182T>C Copied from the Exome Variant Server GABRA3_000044 19/10563 1/6728 18/3835
1 c.1144-21C>G r.(=) p.(=) g.151337056G>C Copied from the Exome Variant Server GABRA3_000043 10/10563 0/6728 10/3835
1 c.1165G>A r.(?) p.(Ala389Thr) g.151337014C>T Copied from the Exome Variant Server GABRA3_000042 1/10563 0/6728 1/3835
1 c.1282C>G r.(?) p.(Pro428Ala) g.151336897G>C Copied from the Exome Variant Server GABRA3_000041 1/10563 0/6728 1/3835
1 c.1314C>T r.(=) p.(=) g.151336865G>A Copied from the Exome Variant Server GABRA3_000040 1/10563 1/6728 0/3835
1 c.1338C>G r.(=) p.(=) g.151336841G>C Copied from the Exome Variant Server GABRA3_000039 8/10563 8/6728 0/3835
1 c.1386C>T r.(=) p.(=) g.151336793G>A Copied from the Exome Variant Server GABRA3_000038 3/10563 0/6728 3/3835
1 c.1398C>G r.(=) p.(=) g.151336781G>C Copied from the Exome Variant Server GABRA3_000037 1/10563 0/6728 1/3835
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