Unique variants in gene DDX1

Information The variants shown are described using the NM_004939.2 transcript reference sequence.

181 entries on 2 pages. Showing entries 1 - 100.
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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.-60A>G r.(=) p.(=) g.15731998A>G Copied from the Exome Variant Server DDX1_000001 3141/4558 1966/3180 1175/1378
1 c.-50A>C r.(=) p.(=) g.15732008A>C Copied from the Exome Variant Server DDX1_000002 2/11348 2/7494 0/3854
1 c.-48T>G r.(=) p.(=) g.15732010T>G Copied from the Exome Variant Server DDX1_000003 1/11348 1/7488 0/3860
1 c.-32G>A r.(=) p.(=) g.15732026G>A Copied from the Exome Variant Server DDX1_000004 3/11640 0/7710 3/3930
1 c.-19C>G r.(=) p.(=) g.15732039C>G Copied from the Exome Variant Server DDX1_000005 1/11886 0/7880 1/4006
1 c.-7G>C r.(=) p.(=) g.15732051G>C Copied from the Exome Variant Server DDX1_000006 1/12048 0/7982 1/4066
1 c.9C>T r.(=) p.(=) g.15732066C>T Copied from the Exome Variant Server DDX1_000007 2/12056 0/7986 2/4070
1 c.16+17T>C r.(=) p.(=) g.15732090T>C Copied from the Exome Variant Server DDX1_000008 1/12082 1/8000 0/4082
1 c.16+24G>T r.(=) p.(=) g.15732097G>T Copied from the Exome Variant Server DDX1_000009 1/12006 1/7948 0/4058
1 c.16+61C>G r.(=) p.(=) g.15732134C>G Copied from the Exome Variant Server DDX1_000010 13/4566 13/3182 0/1384
1 c.17-64T>A r.(=) p.(=) g.15735205T>A Copied from the Exome Variant Server DDX1_000011 2/4566 0/3182 2/1384
1 c.68+28G>A r.(=) p.(=) g.15735348G>A Copied from the Exome Variant Server DDX1_000012 1/13006 0/8600 1/4406
1 c.68+35G>A r.(=) p.(=) g.15735355G>A Copied from the Exome Variant Server DDX1_000013 5/13006 4/8600 1/4406
1 c.68+50A>T r.(=) p.(=) g.15735370A>T Copied from the Exome Variant Server DDX1_000014 2/13006 2/8600 0/4406
1 c.68+74A>G r.(=) p.(=) g.15735394A>G Copied from the Exome Variant Server DDX1_000015 38/4566 0/3182 38/1384
1 c.69-48C>A r.(=) p.(=) g.15735566C>A Copied from the Exome Variant Server DDX1_000016 76/13004 0/8600 76/4404
1 c.69-47G>A r.(=) p.(=) g.15735567G>A Copied from the Exome Variant Server DDX1_000017 2/13006 1/8600 1/4406
1 c.69-46_69-45insT r.(=) p.(=) g.15735568_15735569insT Copied from the Exome Variant Server DDX1_000018 19/12516 9/8250 10/4266
1 c.76A>G r.(?) p.(Thr26Ala) g.15735621A>G Copied from the Exome Variant Server DDX1_000019 15/13006 2/8600 13/4406
1 c.103T>C r.(=) p.(=) g.15735648T>C Copied from the Exome Variant Server DDX1_000021 1896/13006 1624/8600 272/4406
1 c.132+30A>G r.(=) p.(=) g.15735707A>G Copied from the Exome Variant Server DDX1_000022 4/13006 3/8600 1/4406
1 c.132+45_132+46insT r.(=) p.(=) g.15735722_15735723insT Copied from the Exome Variant Server DDX1_000025 1/12520 1/8254 0/4266
1 c.133-9C>T r.(=) p.(=) g.15736849C>T Copied from the Exome Variant Server DDX1_000027 3/13006 1/8600 2/4406
1 c.133-8_133-7insC r.(=) p.(=) g.15736850_15736851insC Copied from the Exome Variant Server DDX1_000029 2/12520 2/8254 0/4266
1 c.162+32A>G r.(=) p.(=) g.15736919A>G Copied from the Exome Variant Server DDX1_000031 2/12968 2/8578 0/4390
1 c.162+50T>C r.(=) p.(=) g.15736937T>C Copied from the Exome Variant Server DDX1_000033 1/12960 0/8578 1/4382
1 c.163-46G>A r.(=) p.(=) g.15737453G>A Copied from the Exome Variant Server DDX1_000020 1/12964 1/8572 0/4392
1 c.163-40A>G r.(=) p.(=) g.15737459A>G Copied from the Exome Variant Server DDX1_000023 1/12970 0/8576 1/4394
1 c.163-19C>A r.(=) p.(=) g.15737480C>A Copied from the Exome Variant Server DDX1_000024 3119/12996 1344/8594 1775/4402
1 c.163-18C>T r.(=) p.(=) g.15737481C>T Copied from the Exome Variant Server DDX1_000026 1/12996 0/8594 1/4402
1 c.194A>G r.(?) p.(Tyr65Cys) g.15737530A>G Copied from the Exome Variant Server DDX1_000028 1/13004 1/8598 0/4406
1 c.259+42G>T r.(=) p.(=) g.15737637G>T Copied from the Exome Variant Server DDX1_000030 1/12980 0/8578 1/4402
1 c.260-66G>A r.(=) p.(=) g.15739727G>A Copied from the Exome Variant Server DDX1_000032 1/4566 1/3182 0/1384
1 c.260-61C>T r.(=) p.(=) g.15739732C>T Copied from the Exome Variant Server DDX1_000034 38/4566 0/3182 38/1384
1 c.260-28G>A r.(=) p.(=) g.15739765G>A Copied from the Exome Variant Server DDX1_000035 5/13006 4/8600 1/4406
1 c.260-15T>C r.(=) p.(=) g.15739778T>C Copied from the Exome Variant Server DDX1_000036 1/13006 1/8600 0/4406
1 c.277A>G r.(?) p.(Met93Val) g.15739810A>G Copied from the Exome Variant Server DDX1_000037 1/13006 0/8600 1/4406
1 c.318A>G r.(=) p.(=) g.15742682A>G Copied from the Exome Variant Server DDX1_000038 1/13006 1/8600 0/4406
1 c.374C>T r.(?) p.(Thr125Ile) g.15742738C>T Copied from the Exome Variant Server DDX1_000039 1/13006 1/8600 0/4406
1 c.391+19C>T r.(=) p.(=) g.15742774C>T Copied from the Exome Variant Server DDX1_000040 1/13006 1/8600 0/4406
1 c.391+60_391+61insT r.(=) p.(=) g.15742815_15742816insT Copied from the Exome Variant Server DDX1_000041 3/12520 1/8254 2/4266
1 c.392-44G>A r.(=) p.(=) g.15743272G>A Copied from the Exome Variant Server DDX1_000042 15/13006 1/8600 14/4406
1 c.392-37T>C r.(=) p.(=) g.15743279T>C Copied from the Exome Variant Server DDX1_000043 2/13006 0/8600 2/4406
1 c.392-19A>G r.(=) p.(=) g.15743297A>G Copied from the Exome Variant Server DDX1_000044 3/13006 1/8600 2/4406
1 c.392-15A>G r.(=) p.(=) g.15743301A>G Copied from the Exome Variant Server DDX1_000045 1/13006 0/8600 1/4406
1 c.420T>C r.(=) p.(=) g.15743344T>C Copied from the Exome Variant Server DDX1_000046 204/13006 20/8600 184/4406
1 c.476-38_476-34del r.(=) p.(=) g.15743900_15743904del Copied from the Exome Variant Server DDX1_000047 55/12432 34/8210 21/4222
1 c.524A>T r.(?) p.(His175Leu) g.15743986A>T Copied from the Exome Variant Server DDX1_000048 1/13002 1/8596 0/4406
1 c.551A>T r.(?) p.(Glu184Val) g.15744013A>T Copied from the Exome Variant Server DDX1_000049 1/13004 0/8598 1/4406
1 c.552+7G>A r.(=) p.(=) g.15744021G>A Copied from the Exome Variant Server DDX1_000050 1/13002 0/8596 1/4406
1 c.552+10T>C r.(=) p.(=) g.15744024T>C Copied from the Exome Variant Server DDX1_000051 1/13002 1/8596 0/4406
1 c.552+13G>A r.(=) p.(=) g.15744027G>A Copied from the Exome Variant Server DDX1_000052 1/13000 1/8594 0/4406
1 c.552+14T>C r.(=) p.(=) g.15744028T>C Copied from the Exome Variant Server DDX1_000053 1/13000 0/8594 1/4406
1 c.552+27A>T r.(=) p.(=) g.15744041A>T Copied from the Exome Variant Server DDX1_000054 1/12998 1/8592 0/4406
1 c.552+32A>G r.(=) p.(=) g.15744046A>G Copied from the Exome Variant Server DDX1_000055 1/13000 0/8594 1/4406
1 c.552+36G>A r.(=) p.(=) g.15744050G>A Copied from the Exome Variant Server DDX1_000056 1/13000 0/8594 1/4406
1 c.553-48T>G r.(=) p.(=) g.15744513T>G Copied from the Exome Variant Server DDX1_000057 335/12982 309/8590 26/4392
1 c.553-33C>A r.(=) p.(=) g.15744528C>A Copied from the Exome Variant Server DDX1_000058 2/13004 2/8598 0/4406
1 c.564G>A r.(?) p.(Met188Ile) g.15744572G>A Copied from the Exome Variant Server DDX1_000059 2/13006 2/8600 0/4406
1 c.607G>C r.(?) p.(Val203Leu) g.15744615G>C Copied from the Exome Variant Server DDX1_000060 3/13006 0/8600 3/4406
1 c.625+40A>G r.(=) p.(=) g.15744673A>G Copied from the Exome Variant Server DDX1_000061 1/13006 1/8600 0/4406
1 c.625+47A>T r.(=) p.(=) g.15744680A>T Copied from the Exome Variant Server DDX1_000062 32/13002 0/8596 32/4406
1 c.625+51T>C r.(=) p.(=) g.15744684T>C Copied from the Exome Variant Server DDX1_000063 1/13006 0/8600 1/4406
1 c.626-47G>C r.(=) p.(=) g.15746027G>C Copied from the Exome Variant Server DDX1_000064 61/13006 8/8600 53/4406
1 c.626-35T>C r.(=) p.(=) g.15746039T>C Copied from the Exome Variant Server DDX1_000065 1/13004 1/8600 0/4404
1 c.626-34T>G r.(=) p.(=) g.15746040T>G Copied from the Exome Variant Server DDX1_000066 24/13004 1/8600 23/4404
1 c.626-26_626-23del r.(=) p.(=) g.15746048_15746051del Copied from the Exome Variant Server DDX1_000067 76/12518 10/8254 66/4264
1 c.626-24_626-23del r.(=) p.(=) g.15746050_15746051del Copied from the Exome Variant Server DDX1_000068 199/12518 162/8254 37/4264
1 c.626-24_626-23dup r.(=) p.(=) g.15746050_15746051dup Copied from the Exome Variant Server DDX1_000069 6/12518 3/8254 3/4264
1 c.626-12_626-11del r.(=) p.(=) g.15746062_15746063del Copied from the Exome Variant Server DDX1_000070 133/12520 121/8254 12/4266
1 c.631G>C r.(?) p.(Asp211His) g.15746079G>C Copied from the Exome Variant Server DDX1_000071 1/13006 1/8600 0/4406
1 c.652A>C r.(?) p.(Ile218Leu) g.15746100A>C Copied from the Exome Variant Server DDX1_000072 1/13006 0/8600 1/4406
1 c.657A>G r.(=) p.(=) g.15746105A>G Copied from the Exome Variant Server DDX1_000074 1/13006 0/8600 1/4406
1 c.702+6T>C r.(=) p.(=) g.15746156T>C Copied from the Exome Variant Server DDX1_000076 2/13006 0/8600 2/4406
1 c.702+61T>C r.(=) p.(=) g.15746211T>C Copied from the Exome Variant Server DDX1_000078 43/4566 0/3182 43/1384
1 c.703-13T>C r.(=) p.(=) g.15746261T>C Copied from the Exome Variant Server DDX1_000080 1/13006 1/8600 0/4406
1 c.703-7A>G r.(=) p.(=) g.15746267A>G Copied from the Exome Variant Server DDX1_000073 1/13006 1/8600 0/4406
1 c.717A>G r.(=) p.(=) g.15746288A>G Copied from the Exome Variant Server DDX1_000075 15/13006 0/8600 15/4406
1 c.726C>T r.(=) p.(=) g.15746297C>T Copied from the Exome Variant Server DDX1_000077 1/13006 0/8600 1/4406
1 c.763T>G r.(?) p.(Phe255Val) g.15746334T>G Copied from the Exome Variant Server DDX1_000079 1/13006 1/8600 0/4406
1 c.781G>T r.(?) p.(Ala261Ser) g.15746352G>T Copied from the Exome Variant Server DDX1_000081 1/13006 1/8600 0/4406
1 c.786G>A r.(=) p.(=) g.15746357G>A Copied from the Exome Variant Server DDX1_000082 1/13006 1/8600 0/4406
1 c.854A>G r.(?) p.(Asn285Ser) g.15747335A>G Copied from the Exome Variant Server DDX1_000083 1/13006 1/8600 0/4406
1 c.870C>T r.(=) p.(=) g.15747351C>T Copied from the Exome Variant Server DDX1_000084 2/13006 0/8600 2/4406
1 c.886C>T r.(?) p.(Arg296Trp) g.15747367C>T Copied from the Exome Variant Server DDX1_000085 1/13006 0/8600 1/4406
1 c.891G>A r.(=) p.(=) g.15747372G>A Copied from the Exome Variant Server DDX1_000086 14/13006 12/8600 2/4406
1 c.912C>T r.(=) p.(=) g.15747393C>T Copied from the Exome Variant Server DDX1_000087 8508/13006 4944/8600 3564/4406
1 c.938T>C r.(?) p.(Ile313Thr) g.15747419T>C Copied from the Exome Variant Server DDX1_000088 1/13006 0/8600 1/4406
1 c.948T>C r.(=) p.(=) g.15747429T>C Copied from the Exome Variant Server DDX1_000089 13/13006 0/8600 13/4406
1 c.956+8T>A r.(=) p.(=) g.15747445T>A Copied from the Exome Variant Server DDX1_000090 6/13004 5/8598 1/4406
1 c.956+27C>T r.(=) p.(=) g.15747464C>T Copied from the Exome Variant Server DDX1_000091 22/13002 21/8596 1/4406
1 c.957-69C>G r.(=) p.(=) g.15753279C>G Copied from the Exome Variant Server DDX1_000092 551/4566 487/3182 64/1384
1 c.957-48G>T r.(=) p.(=) g.15753300G>T Copied from the Exome Variant Server DDX1_000093 6/12824 0/8562 6/4262
1 c.957-45T>G r.(=) p.(=) g.15753303T>G Copied from the Exome Variant Server DDX1_000094 1/12834 1/8568 0/4266
1 c.957-40_957-39del r.(=) p.(=) g.15753308_15753309del Copied from the Exome Variant Server DDX1_000095 21/12308 17/8200 4/4108
1 c.957-40_957-39dup r.(=) p.(=) g.15753308_15753309dup Copied from the Exome Variant Server DDX1_000096 240/12308 128/8200 112/4108
1 c.957-39del r.(=) p.(=) g.15753309del Copied from the Exome Variant Server DDX1_000098 246/12308 167/8200 79/4108
1 c.957-39dup r.(=) p.(=) g.15753309dup Copied from the Exome Variant Server DDX1_000097 3010/12308 1469/8200 1541/4108
1 c.957-27A>G r.(=) p.(=) g.15753321A>G Copied from the Exome Variant Server DDX1_000099 2/12940 0/8576 2/4364
1 c.957-26_957-25insC r.(=) p.(=) g.15753322_15753323insC Copied from the Exome Variant Server DDX1_000100 2/12434 1/8232 1/4202
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