Unique variants in gene RASGEF1A

Information The variants shown are described using the NM_145313.2 transcript reference sequence.

92 entries on 1 page. Showing entries 1 - 92.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-6-42G>C r.(=) p.(=) g.43701612C>G Copied from the Exome Variant Server RASGEF1A_000092 5/12640 0/8376 5/4264
1 c.5C>G r.(?) p.(Pro2Arg) g.43701560G>C Copied from the Exome Variant Server RASGEF1A_000091 1/12956 1/8582 0/4374
1 c.15C>T r.(=) p.(=) g.43701550G>A Copied from the Exome Variant Server RASGEF1A_000090 36/12976 1/8588 35/4388
1 c.51C>T r.(=) p.(=) g.43701514G>A Copied from the Exome Variant Server RASGEF1A_000089 1/12990 1/8592 0/4398
1 c.52G>A r.(?) p.(Gly18Arg) g.43701513C>T Copied from the Exome Variant Server RASGEF1A_000088 2/12992 0/8594 2/4398
1 c.55C>G r.(?) p.(Gln19Glu) g.43701510G>C Copied from the Exome Variant Server RASGEF1A_000087 1/12996 0/8594 1/4402
1 c.62A>G r.(?) p.(Gln21Arg) g.43701503T>C Copied from the Exome Variant Server RASGEF1A_000086 38/13002 0/8596 38/4406
1 c.87C>T r.(=) p.(=) g.43701478G>A Copied from the Exome Variant Server RASGEF1A_000085 11/12998 4/8594 7/4404
1 c.94G>A r.(?) p.(Gly32Ser) g.43701471C>T Copied from the Exome Variant Server RASGEF1A_000084 15/13002 4/8598 11/4404
1 c.105C>T r.(=) p.(=) g.43701460G>A Copied from the Exome Variant Server RASGEF1A_000083 1/13000 1/8600 0/4400
1 c.147C>T r.(=) p.(=) g.43701418G>A Copied from the Exome Variant Server RASGEF1A_000082 1/13006 0/8600 1/4406
1 c.195C>T r.(=) p.(=) g.43701370G>A Copied from the Exome Variant Server RASGEF1A_000081 7/13006 0/8600 7/4406
1 c.198+9G>A r.(=) p.(=) g.43701358C>T Copied from the Exome Variant Server RASGEF1A_000080 49/13004 46/8600 3/4404
1 c.198+30C>T r.(=) p.(=) g.43701337G>A Copied from the Exome Variant Server RASGEF1A_000079 1/13002 1/8598 0/4404
1 c.199-52C>G r.(=) p.(=) g.43698920G>C Copied from the Exome Variant Server RASGEF1A_000078 6/7252 4/4604 2/2648
1 c.199-51C>T r.(=) p.(=) g.43698919G>A Copied from the Exome Variant Server RASGEF1A_000077 11/12528 0/8322 11/4206
1 c.199-46G>A r.(=) p.(=) g.43698914C>T Copied from the Exome Variant Server RASGEF1A_000076 1/12648 0/8410 1/4238
1 c.199-15G>A r.(=) p.(=) g.43698883C>T Copied from the Exome Variant Server RASGEF1A_000075 1/12904 1/8566 0/4338
1 c.204G>A r.(=) p.(=) g.43698863C>T Copied from the Exome Variant Server RASGEF1A_000074 1/12932 1/8580 0/4352
1 c.303G>T r.(=) p.(=) g.43698764C>A Copied from the Exome Variant Server RASGEF1A_000072 3/12876 0/8532 3/4344
1 c.321+43A>C r.(=) p.(=) g.43698703T>G Copied from the Exome Variant Server RASGEF1A_000070 33/10712 1/7230 32/3482
1 c.322-5C>T r.spl? p.? g.43697398G>A Copied from the Exome Variant Server RASGEF1A_000068 1/13006 1/8600 0/4406
1 c.384C>A r.(?) p.(Phe128Leu) g.43697331G>T Copied from the Exome Variant Server RASGEF1A_000073 1/13006 1/8600 0/4406
1 c.393C>T r.(=) p.(=) g.43697322G>A Copied from the Exome Variant Server RASGEF1A_000071 1/13004 1/8598 0/4406
1 c.439C>G r.(?) p.(Arg147Gly) g.43697276G>C Copied from the Exome Variant Server RASGEF1A_000069 1/13006 1/8600 0/4406
1 c.460-48C>A r.(=) p.(=) g.43696384G>T Copied from the Exome Variant Server RASGEF1A_000067 1/13006 0/8600 1/4406
1 c.517T>C r.(=) p.(=) g.43696279A>G Copied from the Exome Variant Server RASGEF1A_000066 708/13006 516/8600 192/4406
1 c.548G>A r.(?) p.(Arg183Gln) g.43696248C>T Copied from the Exome Variant Server RASGEF1A_000065 1/13006 1/8600 0/4406
1 c.559C>T r.(?) p.(Arg187Trp) g.43696237G>A Copied from the Exome Variant Server RASGEF1A_000064 1/13006 1/8600 0/4406
1 c.579G>A r.(=) p.(=) g.43696217C>T Copied from the Exome Variant Server RASGEF1A_000063 16/13006 14/8600 2/4406
1 c.596C>G r.(?) p.(Thr199Ser) g.43696200G>C Copied from the Exome Variant Server RASGEF1A_000062 1/13006 0/8600 1/4406
1 c.630C>T r.(=) p.(=) g.43696166G>A Copied from the Exome Variant Server RASGEF1A_000061 1/13006 0/8600 1/4406
1 c.681+29G>A r.(=) p.(=) g.43696086C>T Copied from the Exome Variant Server RASGEF1A_000060 1743/12992 1489/8592 254/4400
1 c.681+46C>A r.(=) p.(=) g.43696069G>T Copied from the Exome Variant Server RASGEF1A_000059 1/12996 0/8594 1/4402
1 c.711C>T r.(=) p.(=) g.43695675G>A Copied from the Exome Variant Server RASGEF1A_000058 5/13000 5/8600 0/4400
1 c.723C>T r.(=) p.(=) g.43695663G>A Copied from the Exome Variant Server RASGEF1A_000057 1/13000 1/8600 0/4400
1 c.724G>A r.(?) p.(Val242Ile) g.43695662C>T Copied from the Exome Variant Server RASGEF1A_000056 1/13000 0/8600 1/4400
1 c.756+62T>G r.(=) p.(=) g.43695568A>C Copied from the Exome Variant Server RASGEF1A_000055 7/4566 0/3182 7/1384
1 c.765G>A r.(=) p.(=) g.43695208C>T Copied from the Exome Variant Server RASGEF1A_000054 2/13006 1/8600 1/4406
1 c.828G>T r.(=) p.(=) g.43695145C>A Copied from the Exome Variant Server RASGEF1A_000053 1/13006 0/8600 1/4406
1 c.849+12T>C r.(=) p.(=) g.43695112A>G Copied from the Exome Variant Server RASGEF1A_000052 652/13006 512/8600 140/4406
1 c.849+24T>C r.(=) p.(=) g.43695100A>G Copied from the Exome Variant Server RASGEF1A_000051 1/13006 1/8600 0/4406
1 c.849+50G>T r.(=) p.(=) g.43695074C>A Copied from the Exome Variant Server RASGEF1A_000050 1/13004 1/8600 0/4404
1 c.850-36G>A r.(=) p.(=) g.43694678C>T Copied from the Exome Variant Server RASGEF1A_000049 1/12970 0/8588 1/4382
1 c.952+16C>A r.(=) p.(=) g.43694524G>T Copied from the Exome Variant Server RASGEF1A_000048 29/13006 27/8600 2/4406
1 c.952+34C>A r.(=) p.(=) g.43694506G>T Copied from the Exome Variant Server RASGEF1A_000047 1/13004 0/8600 1/4404
1 c.953-36C>G r.(=) p.(=) g.43694496G>C Copied from the Exome Variant Server RASGEF1A_000046 40/13006 3/8600 37/4406
1 c.953-33C>A r.(=) p.(=) g.43694493G>T Copied from the Exome Variant Server RASGEF1A_000045 2/13006 2/8600 0/4406
1 c.953-31C>A r.(=) p.(=) g.43694491G>T Copied from the Exome Variant Server RASGEF1A_000044 7/13006 0/8600 7/4406
1 c.953-31_953-30insC r.(=) p.(=) g.43694490_43694491insG Copied from the Exome Variant Server RASGEF1A_000043 24/12510 13/8248 11/4262
1 c.953-16C>T r.(=) p.(=) g.43694476G>A Copied from the Exome Variant Server RASGEF1A_000042 1/13006 0/8600 1/4406
1 c.963C>T r.(=) p.(=) g.43694450G>A Copied from the Exome Variant Server RASGEF1A_000041 15/13006 1/8600 14/4406
1 c.1032+11G>A r.(=) p.(=) g.43694370C>T Copied from the Exome Variant Server RASGEF1A_000040 66/13006 1/8600 65/4406
1 c.1032+17del r.(=) p.(=) g.43694364del Copied from the Exome Variant Server RASGEF1A_000039 3/12518 3/8254 0/4264
1 c.1032+17_1032+18insT r.(=) p.(=) g.43694363_43694364insA Copied from the Exome Variant Server RASGEF1A_000038 5085/12518 3478/8254 1607/4264
1 c.1032+27G>A r.(=) p.(=) g.43694354C>T Copied from the Exome Variant Server RASGEF1A_000037 1/13006 1/8600 0/4406
1 c.1032+40A>G r.(=) p.(=) g.43694341T>C Copied from the Exome Variant Server RASGEF1A_000036 2/13006 0/8600 2/4406
1 c.1032+45G>A r.(=) p.(=) g.43694336C>T Copied from the Exome Variant Server RASGEF1A_000035 1/13006 1/8600 0/4406
1 c.1033-29T>C r.(=) p.(=) g.43693672A>G Copied from the Exome Variant Server RASGEF1A_000034 1/13004 0/8600 1/4404
1 c.1033-16C>G r.(=) p.(=) g.43693659G>C Copied from the Exome Variant Server RASGEF1A_000033 1/13004 0/8600 1/4404
1 c.1039A>T r.(?) p.(Met347Leu) g.43693637T>A Copied from the Exome Variant Server RASGEF1A_000032 1/13004 1/8600 0/4404
1 c.1046C>T r.(?) p.(Pro349Leu) g.43693630G>A Copied from the Exome Variant Server RASGEF1A_000031 1/13006 0/8600 1/4406
1 c.1092G>A r.(=) p.(=) g.43693584C>T Copied from the Exome Variant Server RASGEF1A_000030 2/13006 0/8600 2/4406
1 c.1156G>A r.(?) p.(Val386Ile) g.43693520C>T Copied from the Exome Variant Server RASGEF1A_000029 2/13006 0/8600 2/4406
1 c.1206C>T r.(=) p.(=) g.43693470G>A Copied from the Exome Variant Server RASGEF1A_000028 1/13006 0/8600 1/4406
1 c.1224+20G>C r.(=) p.(=) g.43693432C>G Copied from the Exome Variant Server RASGEF1A_000027 1/13006 0/8600 1/4406
1 c.1224+33G>A r.(=) p.(=) g.43693419C>T Copied from the Exome Variant Server RASGEF1A_000026 1/13006 0/8600 1/4406
1 c.1225-8C>T r.(=) p.(=) g.43692555G>A Copied from the Exome Variant Server RASGEF1A_000025 1/13006 0/8600 1/4406
1 c.1262T>G r.(?) p.(Met421Arg) g.43692510A>C Copied from the Exome Variant Server RASGEF1A_000024 29/13006 0/8600 29/4406
1 c.1281G>C r.(?) p.(Glu427Asp) g.43692491C>G Copied from the Exome Variant Server RASGEF1A_000023 1/13006 0/8600 1/4406
1 c.1341C>T r.(=) p.(=) g.43692431G>A Copied from the Exome Variant Server RASGEF1A_000021 1/13006 1/8600 0/4406
1 c.1348+19C>A r.(=) p.(=) g.43692405G>T Copied from the Exome Variant Server RASGEF1A_000019 8/13006 0/8600 8/4406
1 c.1348+20G>A r.(=) p.(=) g.43692404C>T Copied from the Exome Variant Server RASGEF1A_000022 1/13006 1/8600 0/4406
1 c.1349-57G>C r.(=) p.(=) g.43692053C>G Copied from the Exome Variant Server RASGEF1A_000020 8/4566 0/3182 8/1384
1 c.1349-8T>C r.(=) p.(=) g.43692004A>G Copied from the Exome Variant Server RASGEF1A_000018 1/13006 1/8600 0/4406
1 c.1419C>T r.(=) p.(=) g.43691926G>A Copied from the Exome Variant Server RASGEF1A_000017 1/13006 1/8600 0/4406
1 c.1421+6_1421+8del r.(=) p.(=) g.43691916_43691918del Copied from the Exome Variant Server RASGEF1A_000016 9/12518 6/8254 3/4264
1 c.1421+8G>A r.(=) p.(=) g.43691916C>T Copied from the Exome Variant Server RASGEF1A_000015 10/13006 0/8600 10/4406
1 c.1421+10C>T r.(=) p.(=) g.43691914G>A Copied from the Exome Variant Server RASGEF1A_000014 1/13006 1/8600 0/4406
1 c.1421+11G>A r.(=) p.(=) g.43691913C>T Copied from the Exome Variant Server RASGEF1A_000013 150/13006 1/8600 149/4406
1 c.1421+26G>A r.(=) p.(=) g.43691898C>T Copied from the Exome Variant Server RASGEF1A_000012 1/13006 0/8600 1/4406
1 c.1422-43G>A r.(=) p.(=) g.43691759C>T Copied from the Exome Variant Server RASGEF1A_000011 1/13006 0/8600 1/4406
1 c.1422-35C>T r.(=) p.(=) g.43691751G>A Copied from the Exome Variant Server RASGEF1A_000010 5/13006 5/8600 0/4406
1 c.1422-28G>C r.(=) p.(=) g.43691744C>G Copied from the Exome Variant Server RASGEF1A_000009 1/13006 0/8600 1/4406
1 c.1422-15C>T r.(=) p.(=) g.43691731G>A Copied from the Exome Variant Server RASGEF1A_000008 1/13006 0/8600 1/4406
1 c.1431T>A r.(=) p.(=) g.43691707A>T Copied from the Exome Variant Server RASGEF1A_000007 1/13006 1/8600 0/4406
1 c.*1G>A r.(=) p.(=) g.43691691C>T Copied from the Exome Variant Server RASGEF1A_000006 1742/13006 1486/8600 256/4406
1 c.*14C>T r.(=) p.(=) g.43691678G>A Copied from the Exome Variant Server RASGEF1A_000005 1/13006 1/8600 0/4406
1 c.*19C>T r.(=) p.(=) g.43691673G>A Copied from the Exome Variant Server RASGEF1A_000004 8/13006 8/8600 0/4406
1 c.*33C>G r.(=) p.(=) g.43691659G>C Copied from the Exome Variant Server RASGEF1A_000003 1/13006 0/8600 1/4406
1 c.*39C>T r.(=) p.(=) g.43691653G>A Copied from the Exome Variant Server RASGEF1A_000002 2/13006 2/8600 0/4406
1 c.*63A>T r.(=) p.(=) g.43691629T>A Copied from the Exome Variant Server RASGEF1A_000001 7/4566 0/3182 7/1384
Legend