Unique variants in gene RASA1

Information The variants shown are described using the NM_002890.2 transcript reference sequence.

180 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.64G>T r.(?) p.(Gly22Cys) g.86564332G>T Copied from the Exome Variant Server RASA1_000001 2/12734 2/8430 0/4304
1 c.89A>G r.(?) p.(Tyr30Cys) g.86564357A>G Copied from the Exome Variant Server RASA1_000002 1/12908 0/8538 1/4370
1 c.135_136insG r.(?) p.(Ala46Glyfs*66) g.86564403_86564404insG Copied from the Exome Variant Server RASA1_000003 252/11012 132/7362 120/3650
1 c.162G>C r.(?) p.(Glu54Asp) g.86564430G>C Copied from the Exome Variant Server RASA1_000004 5/12758 0/8452 5/4306
1 c.209A>G r.(?) p.(Glu70Gly) g.86564477A>G Copied from the Exome Variant Server RASA1_000005 6/13000 3/8596 3/4404
1 c.254G>C r.(?) p.(Gly85Ala) g.86564522G>C Copied from the Exome Variant Server RASA1_000006 1/13004 1/8600 0/4404
1 c.256C>G r.(?) p.(Leu86Val) g.86564524C>G Copied from the Exome Variant Server RASA1_000007 1/13002 0/8600 1/4402
1 c.259A>T r.(?) p.(Thr87Ser) g.86564527A>T Copied from the Exome Variant Server RASA1_000008 2/13002 0/8600 2/4402
1 c.262G>C r.(?) p.(Gly88Arg) g.86564530G>C Copied from the Exome Variant Server RASA1_000009 1/13002 1/8600 0/4402
1 c.272_292del r.(?) p.(Ala100_Ala106del) g.86564540_86564560del Copied from the Exome Variant Server RASA1_000010 7/12516 3/8252 4/4264
1 c.296C>T r.(?) p.(Ala99Val) g.86564564C>T Copied from the Exome Variant Server RASA1_000011 281/13006 246/8600 35/4406
1 c.304G>T r.(?) p.(Val102Leu) g.86564572G>T Copied from the Exome Variant Server RASA1_000012 39/13004 0/8598 39/4406
1 c.319G>C r.(?) p.(Val107Leu) g.86564587G>C Copied from the Exome Variant Server RASA1_000013 3/13006 0/8600 3/4406
1 c.325G>A r.(?) p.(Gly109Arg) g.86564593G>A Copied from the Exome Variant Server RASA1_000014 1/13006 0/8600 1/4406
1 c.336A>C r.(=) p.(=) g.86564604A>C Copied from the Exome Variant Server RASA1_000015 2/13006 0/8600 2/4406
1 c.346C>G r.(?) p.(Leu116Val) g.86564614C>G Copied from the Exome Variant Server RASA1_000016 2/13006 2/8600 0/4406
1 c.347T>C r.(?) p.(Leu116Pro) g.86564615T>C Copied from the Exome Variant Server RASA1_000017 3/13006 0/8600 3/4406
1 c.360C>A r.(=) p.(=) g.86564628C>A Copied from the Exome Variant Server RASA1_000018 13/13006 12/8600 1/4406
1 c.370C>T r.(?) p.(Leu124Phe) g.86564638C>T Copied from the Exome Variant Server RASA1_000019 1/13006 1/8600 0/4406
1 c.384C>T r.(=) p.(=) g.86564652C>T Copied from the Exome Variant Server RASA1_000021 23/13006 0/8600 23/4406
1 c.429_430insC r.(?) p.(Leu146Phefs*12) g.86564697_86564698insC Copied from the Exome Variant Server RASA1_000023 97/11884 69/7960 28/3924
1 c.448C>T r.(?) p.(Leu150Phe) g.86564716C>T Copied from the Exome Variant Server RASA1_000025 1/12954 1/8566 0/4388
1 c.467G>T r.(?) p.(Gly156Val) g.86564735G>T Copied from the Exome Variant Server RASA1_000027 1/12960 1/8582 0/4378
1 c.474T>C r.(=) p.(=) g.86564742T>C Copied from the Exome Variant Server RASA1_000029 2/12950 0/8580 2/4370
1 c.511A>G r.(?) p.(Ile171Val) g.86564779A>G Copied from the Exome Variant Server RASA1_000031 1/12930 1/8570 0/4360
1 c.532A>G r.(?) p.(Thr178Ala) g.86564800A>G Copied from the Exome Variant Server RASA1_000020 1/12828 0/8544 1/4284
1 c.539+47A>G r.(=) p.(=) g.86564854A>G Copied from the Exome Variant Server RASA1_000022 1/12440 1/8376 0/4064
1 c.539+114T>C r.(=) p.(=) g.86564921T>C Copied from the Exome Variant Server RASA1_000024 1/11988 0/8242 1/3746
1 c.539+155C>T r.(=) p.(=) g.86564962C>T Copied from the Exome Variant Server RASA1_000026 5/4566 5/3182 0/1384
1 c.540-12162G>A r.(=) p.(=) g.86615003G>A Copied from the Exome Variant Server RASA1_000028 2/6338 2/4250 0/2088
1 c.540-12150_540-12149insG r.(=) p.(=) g.86615015_86615016insG Copied from the Exome Variant Server RASA1_000030 1/7532 0/4992 1/2540
1 c.540-12082G>A r.(=) p.(=) g.86615083G>A Copied from the Exome Variant Server RASA1_000032 1/6484 1/4320 0/2164
1 c.540-12047G>A r.(=) p.(=) g.86615118G>A Copied from the Exome Variant Server RASA1_000033 1/6442 0/4302 1/2140
1 c.540-12042G>T r.(=) p.(=) g.86615123G>T Copied from the Exome Variant Server RASA1_000034 1/6436 1/4294 0/2142
1 c.540-12040C>G r.(=) p.(=) g.86615125C>G Copied from the Exome Variant Server RASA1_000035 128/6432 115/4290 13/2142
1 c.540-12034G>C r.(=) p.(=) g.86615131G>C Copied from the Exome Variant Server RASA1_000036 2/6408 2/4292 0/2116
1 c.540-12015_540-12014insT r.(=) p.(=) g.86615150_86615151insT Copied from the Exome Variant Server RASA1_000037 22/7628 0/5058 22/2570
1 c.540-11967G>C r.(=) p.(=) g.86615198G>C Copied from the Exome Variant Server RASA1_000038 9/6330 1/4278 8/2052
1 c.540-11901G>A r.(=) p.(=) g.86615264G>A Copied from the Exome Variant Server RASA1_000039 1/6318 1/4272 0/2046
1 c.540-11892C>T r.(=) p.(=) g.86615273C>T Copied from the Exome Variant Server RASA1_000041 1/6334 0/4274 1/2060
1 c.540-11875_540-11874insGTGCACCCACA r.(=) p.(=) g.86615290_86615291insGTGCACCCACA Copied from the Exome Variant Server RASA1_000043 8/7442 0/4988 8/2454
1 c.540-11815G>C r.(=) p.(=) g.86615350G>C Copied from the Exome Variant Server RASA1_000045 1/6326 1/4262 0/2064
1 c.540-11803C>T r.(=) p.(=) g.86615362C>T Copied from the Exome Variant Server RASA1_000047 1/6314 1/4256 0/2058
1 c.540-11802G>A r.(=) p.(=) g.86615363G>A Copied from the Exome Variant Server RASA1_000049 2/6298 2/4244 0/2054
1 c.540-11750T>C r.(=) p.(=) g.86615415T>C Copied from the Exome Variant Server RASA1_000051 1/6194 0/4204 1/1990
1 c.540-11722T>C r.(=) p.(=) g.86615443T>C Copied from the Exome Variant Server RASA1_000053 44/6248 0/4204 44/2044
1 c.540-11718G>A r.(=) p.(=) g.86615447G>A Copied from the Exome Variant Server RASA1_000055 2/6258 0/4210 2/2048
1 c.540-11662C>T r.(=) p.(=) g.86615503C>T Copied from the Exome Variant Server RASA1_000057 4/6054 4/4114 0/1940
1 c.540-11630C>G r.(=) p.(=) g.86615535C>G Copied from the Exome Variant Server RASA1_000060 187/6064 172/4132 15/1932
1 c.540-83C>G r.(=) p.(=) g.86627082C>G Copied from the Exome Variant Server RASA1_000062 2/5734 2/3982 0/1752
1 c.540-70T>A r.(=) p.(=) g.86627095T>A Copied from the Exome Variant Server RASA1_000040 19/5734 0/3982 19/1752
1 c.540-27G>A r.(=) p.(=) g.86627138G>A Copied from the Exome Variant Server RASA1_000042 310/13006 288/8600 22/4406
1 c.540-19T>G r.(=) p.(=) g.86627146T>G Copied from the Exome Variant Server RASA1_000044 1/13006 0/8600 1/4406
1 c.567G>A r.(=) p.(=) g.86627192G>A Copied from the Exome Variant Server RASA1_000046 1/13006 0/8600 1/4406
1 c.612T>C r.(=) p.(=) g.86627237T>C Copied from the Exome Variant Server RASA1_000048 1/13006 0/8600 1/4406
1 c.692+25G>T r.(=) p.(=) g.86627342G>T Copied from the Exome Variant Server RASA1_000050 1/13006 1/8600 0/4406
1 c.692+49A>G r.(=) p.(=) g.86627366A>G Copied from the Exome Variant Server RASA1_000052 2/13004 2/8598 0/4406
1 c.774T>C r.(=) p.(=) g.86628405T>C Copied from the Exome Variant Server RASA1_000054 1/13000 1/8594 0/4406
1 c.829-51T>G r.(=) p.(=) g.86629033T>G Copied from the Exome Variant Server RASA1_000056 3/12842 0/8538 3/4304
1 c.829-35A>G r.(=) p.(=) g.86629049A>G Copied from the Exome Variant Server RASA1_000058 3/12928 3/8568 0/4360
1 c.829-12T>A r.(=) p.(=) g.86629072T>A Copied from the Exome Variant Server RASA1_000059 18/12998 0/8594 18/4404
1 c.854G>A r.(?) p.(Arg285Gln) g.86629109G>A Copied from the Exome Variant Server RASA1_000061 1/13006 1/8600 0/4406
1 c.885C>A r.(?) p.(Asp295Glu) g.86629140C>A Copied from the Exome Variant Server RASA1_000063 2/13006 2/8600 0/4406
1 c.899+44A>G r.(=) p.(=) g.86629198A>G Copied from the Exome Variant Server RASA1_000064 1/12996 0/8590 1/4406
1 c.899+46A>G r.(=) p.(=) g.86629200A>G Copied from the Exome Variant Server RASA1_000065 1/12996 1/8590 0/4406
1 c.899+52A>G r.(=) p.(=) g.86629206A>G Copied from the Exome Variant Server RASA1_000066 1/7262 1/4608 0/2654
1 c.900-27T>C r.(=) p.(=) g.86633764T>C Copied from the Exome Variant Server RASA1_000067 1/12708 1/8458 0/4250
1 c.1049+40A>G r.(=) p.(=) g.86637178A>G Copied from the Exome Variant Server RASA1_000068 94/6028 4/4038 90/1990
1 c.1050-34_1050-31del r.(=) p.(=) g.86642455_86642458del Copied from the Exome Variant Server RASA1_000069 38/12268 26/8118 12/4150
1 c.1092A>G r.(=) p.(=) g.86642531A>G Copied from the Exome Variant Server RASA1_000070 1/12982 1/8584 0/4398
1 c.1102+10T>C r.(=) p.(=) g.86642551T>C Copied from the Exome Variant Server RASA1_000071 3/12954 3/8560 0/4394
1 c.1102+27A>T r.(=) p.(=) g.86642568A>T Copied from the Exome Variant Server RASA1_000072 1/12926 0/8544 1/4382
1 c.1103-17C>T r.(=) p.(=) g.86645014C>T Copied from the Exome Variant Server RASA1_000073 15/13000 0/8596 15/4404
1 c.1209A>G r.(=) p.(=) g.86645137A>G Copied from the Exome Variant Server RASA1_000074 2/12998 0/8596 2/4402
1 c.1212G>A r.(=) p.(=) g.86645140G>A Copied from the Exome Variant Server RASA1_000075 1/12998 1/8596 0/4402
1 c.1253+19G>T r.(=) p.(=) g.86645200G>T Copied from the Exome Variant Server RASA1_000076 1/12976 1/8578 0/4398
1 c.1254-54A>G r.(=) p.(=) g.86648920A>G Copied from the Exome Variant Server RASA1_000077 42/4544 0/3160 42/1384
1 c.1254-47T>C r.(=) p.(=) g.86648927T>C Copied from the Exome Variant Server RASA1_000078 1/12944 1/8560 0/4384
1 c.1254-4A>T r.spl? p.? g.86648970A>T Copied from the Exome Variant Server RASA1_000079 1/12992 0/8586 1/4406
1 c.1332+3C>G r.spl? p.? g.86649055C>G Copied from the Exome Variant Server RASA1_000080 1/12996 1/8590 0/4406
1 c.1332+8T>C r.(=) p.(=) g.86649060T>C Copied from the Exome Variant Server RASA1_000081 1/12998 1/8592 0/4406
1 c.1332+17T>C r.(=) p.(=) g.86649069T>C Copied from the Exome Variant Server RASA1_000082 1/12994 1/8588 0/4406
1 c.1341A>G r.(=) p.(=) g.86658376A>G Copied from the Exome Variant Server RASA1_000083 1/13000 0/8594 1/4406
1 c.1342C>G r.(?) p.(Gln448Glu) g.86658377C>G Copied from the Exome Variant Server RASA1_000084 1/13000 1/8594 0/4406
1 c.1371G>A r.(=) p.(=) g.86658406G>A Copied from the Exome Variant Server RASA1_000085 23/13000 0/8594 23/4406
1 c.1394G>A r.(?) p.(Arg465His) g.86658429G>A Copied from the Exome Variant Server RASA1_000086 1/12994 1/8588 0/4406
1 c.1408G>A r.(?) p.(Ala470Thr) g.86658443G>A Copied from the Exome Variant Server RASA1_000087 2/12988 0/8582 2/4406
1 c.1453+25C>T r.(=) p.(=) g.86658513C>T Copied from the Exome Variant Server RASA1_000088 1/12998 0/8592 1/4406
1 c.1453+50A>G r.(=) p.(=) g.86658538A>G Copied from the Exome Variant Server RASA1_000089 1/12984 1/8584 0/4400
1 c.1453+51T>G r.(=) p.(=) g.86658539T>G Copied from the Exome Variant Server RASA1_000090 2/12984 2/8584 0/4400
1 c.1454-17del r.(=) p.(=) g.86659148del Copied from the Exome Variant Server RASA1_000092 633/12444 252/8222 381/4222
1 c.1454-17dup r.(=) p.(=) g.86659148dup Copied from the Exome Variant Server RASA1_000091 61/12444 40/8222 21/4222
1 c.1494G>A r.(=) p.(=) g.86659205G>A Copied from the Exome Variant Server RASA1_000093 3/13006 3/8600 0/4406
1 c.1583A>G r.(?) p.(Tyr528Cys) g.86659294A>G Copied from the Exome Variant Server RASA1_000094 4/13006 4/8600 0/4406
1 c.1593T>C r.(=) p.(=) g.86659304T>C Copied from the Exome Variant Server RASA1_000095 1/13006 1/8600 0/4406
1 c.1610+29C>T r.(=) p.(=) g.86659350C>T Copied from the Exome Variant Server RASA1_000096 35/13006 0/8600 35/4406
1 c.1698+39G>A r.(=) p.(=) g.86665756G>A Copied from the Exome Variant Server RASA1_000097 13/12986 0/8584 13/4402
1 c.1699-32A>G r.(=) p.(=) g.86667903A>G Copied from the Exome Variant Server RASA1_000099 1/13006 0/8600 1/4406
1 c.1705A>T r.(?) p.(Met569Leu) g.86667941A>T Copied from the Exome Variant Server RASA1_000101 2/13006 2/8600 0/4406
1 c.1722A>G r.(=) p.(=) g.86667958A>G Copied from the Exome Variant Server RASA1_000103 1/13006 1/8600 0/4406
Legend   « First ‹ Prev     1 2     Next › Last »