Unique variants in gene DDX31

Information The variants shown are described using the NM_138620.1 transcript reference sequence.

142 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.-6G>A r.(=) p.(=) g.135545642C>T Copied from the Exome Variant Server DDX31_000142 1/12498 1/8252 0/4246
1 c.30_33del r.(?) p.(His10Glnfs*7) g.135545604_135545607del Copied from the Exome Variant Server DDX31_000141 1/12266 0/8076 1/4190
1 c.55T>A r.(?) p.(Ser19Thr) g.135545582A>T Copied from the Exome Variant Server DDX31_000140 4/12824 4/8482 0/4342
1 c.97G>A r.(?) p.(Glu33Lys) g.135545540C>T Copied from the Exome Variant Server DDX31_000139 161/12826 0/8484 161/4342
1 c.134_135del r.(?) p.(Leu45Argfs*99) g.135545502_135545503del Copied from the Exome Variant Server DDX31_000138 3/12084 1/7978 2/4106
1 c.200G>A r.(?) p.(Arg67His) g.135545437C>T Copied from the Exome Variant Server DDX31_000137 13/11478 1/7624 12/3854
1 c.237G>C r.(=) p.(=) g.135545400C>G Copied from the Exome Variant Server DDX31_000136 17/12054 0/7968 17/4086
1 c.251G>A r.(?) p.(Gly84Glu) g.135545386C>T Copied from the Exome Variant Server DDX31_000135 142/12326 4/8146 138/4180
1 c.255C>G r.(=) p.(=) g.135545382G>C Copied from the Exome Variant Server DDX31_000134 62/12388 0/8202 62/4186
1 c.265G>A r.(?) p.(Ala89Thr) g.135545372C>T Copied from the Exome Variant Server DDX31_000133 2/12528 0/8292 2/4236
1 c.297C>T r.(=) p.(=) g.135545340G>A Copied from the Exome Variant Server DDX31_000132 1/12642 1/8390 0/4252
1 c.301T>A r.(?) p.(Ser101Thr) g.135545336A>T Copied from the Exome Variant Server DDX31_000131 3/12600 0/8364 3/4236
1 c.310C>G r.(?) p.(Gln104Glu) g.135545327G>C Copied from the Exome Variant Server DDX31_000130 1/12556 0/8354 1/4202
1 c.328G>A r.(?) p.(Asp110Asn) g.135545309C>T Copied from the Exome Variant Server DDX31_000129 1/12642 1/8400 0/4242
1 c.360C>G r.(?) p.(Phe120Leu) g.135545277G>C Copied from the Exome Variant Server DDX31_000128 1/12776 1/8466 0/4310
1 c.383C>T r.(?) p.(Ala128Val) g.135545254G>A Copied from the Exome Variant Server DDX31_000127 13/12754 0/8458 13/4296
1 c.391-47T>C r.(=) p.(=) g.135538129A>G Copied from the Exome Variant Server DDX31_000126 2/13006 0/8600 2/4406
1 c.391-44A>G r.(=) p.(=) g.135538126T>C Copied from the Exome Variant Server DDX31_000125 1/13006 0/8600 1/4406
1 c.405G>A r.(=) p.(=) g.135538068C>T Copied from the Exome Variant Server DDX31_000124 1/13006 1/8600 0/4406
1 c.423G>A r.(=) p.(=) g.135538050C>T Copied from the Exome Variant Server DDX31_000123 995/13006 909/8600 86/4406
1 c.444G>A r.(=) p.(=) g.135538029C>T Copied from the Exome Variant Server DDX31_000122 2/13006 1/8600 1/4406
1 c.449G>A r.(?) p.(Arg150Gln) g.135538024C>T Copied from the Exome Variant Server DDX31_000121 2/13006 0/8600 2/4406
1 c.456C>T r.(=) p.(=) g.135538017G>A Copied from the Exome Variant Server DDX31_000120 8/13006 7/8600 1/4406
1 c.457G>A r.(?) p.(Glu153Lys) g.135538016C>T Copied from the Exome Variant Server DDX31_000119 145/13006 129/8600 16/4406
1 c.476C>G r.(?) p.(Ala159Gly) g.135537997G>C Copied from the Exome Variant Server DDX31_000118 1/13006 1/8600 0/4406
1 c.491T>A r.(?) p.(Val164Asp) g.135537982A>T Copied from the Exome Variant Server DDX31_000117 1/13006 1/8600 0/4406
1 c.522C>T r.(=) p.(=) g.135537951G>A Copied from the Exome Variant Server DDX31_000116 1/13006 0/8600 1/4406
1 c.523G>A r.(?) p.(Ala175Thr) g.135537950C>T Copied from the Exome Variant Server DDX31_000115 1/13006 1/8600 0/4406
1 c.647+14C>T r.(=) p.(=) g.135537812G>A Copied from the Exome Variant Server DDX31_000114 3/13006 0/8600 3/4406
1 c.647+26del r.(=) p.(=) g.135537800del Copied from the Exome Variant Server DDX31_000113 2/12518 2/8254 0/4264
1 c.648-39A>G r.(=) p.(=) g.135537762T>C Copied from the Exome Variant Server DDX31_000112 16/13006 0/8600 16/4406
1 c.648-22G>C r.(=) p.(=) g.135537745C>G Copied from the Exome Variant Server DDX31_000111 34/13006 1/8600 33/4406
1 c.648-15G>A r.(=) p.(=) g.135537738C>T Copied from the Exome Variant Server DDX31_000110 26/13006 20/8600 6/4406
1 c.648-6T>C r.(=) p.(=) g.135537729A>G Copied from the Exome Variant Server DDX31_000108 1/13006 1/8600 0/4406
1 c.648-4G>C r.spl? p.? g.135537727C>G Copied from the Exome Variant Server DDX31_000106 6/13006 0/8600 6/4406
1 c.699T>G r.(?) p.(His233Gln) g.135537672A>C Copied from the Exome Variant Server DDX31_000104 2/13006 2/8600 0/4406
1 c.723+15G>C r.(=) p.(=) g.135537633C>G Copied from the Exome Variant Server DDX31_000102 33/13006 30/8600 3/4406
1 c.723+33T>G r.(=) p.(=) g.135537615A>C Copied from the Exome Variant Server DDX31_000100 45/13006 0/8600 45/4406
1 c.723+38del r.(=) p.(=) g.135537610del Copied from the Exome Variant Server DDX31_000109 9/12518 4/8254 5/4264
1 c.723+42G>A r.(=) p.(=) g.135537606C>T Copied from the Exome Variant Server DDX31_000107 1/13006 0/8600 1/4406
1 c.723+51C>G r.(=) p.(=) g.135537597G>C Copied from the Exome Variant Server DDX31_000105 1/13006 0/8600 1/4406
1 c.724-81_724-80del r.(=) p.(=) g.135536718_135536719del Copied from the Exome Variant Server DDX31_000103 145/12478 2/8240 143/4238
1 c.724-68C>G r.(=) p.(=) g.135536706G>C Copied from the Exome Variant Server DDX31_000101 44/4566 0/3182 44/1384
1 c.724-54G>A r.(=) p.(=) g.135536692C>T Copied from the Exome Variant Server DDX31_000099 8/4566 1/3182 7/1384
1 c.724-37A>G r.(=) p.(=) g.135536675T>C Copied from the Exome Variant Server DDX31_000098 57/13006 54/8600 3/4406
1 c.724-29A>G r.(=) p.(=) g.135536667T>C Copied from the Exome Variant Server DDX31_000097 1/13006 0/8600 1/4406
1 c.724-9C>G r.(=) p.(=) g.135536647G>C Copied from the Exome Variant Server DDX31_000096 24/13006 0/8600 24/4406
1 c.724-9_724-7del r.(=) p.(=) g.135536645_135536647del Copied from the Exome Variant Server DDX31_000095 5/12518 1/8254 4/4264
1 c.767+18_767+20del r.(=) p.(=) g.135536575_135536577del Copied from the Exome Variant Server DDX31_000094 179/12518 163/8254 16/4264
1 c.767+39C>T r.(=) p.(=) g.135536556G>A Copied from the Exome Variant Server DDX31_000093 3/13006 0/8600 3/4406
1 c.767+41T>C r.(=) p.(=) g.135536554A>G Copied from the Exome Variant Server DDX31_000092 1/13006 1/8600 0/4406
1 c.767+55C>T r.(=) p.(=) g.135536540G>A Copied from the Exome Variant Server DDX31_000091 427/4566 311/3182 116/1384
1 c.768-11G>A r.(=) p.(=) g.135535178C>T Copied from the Exome Variant Server DDX31_000090 1/13006 1/8600 0/4406
1 c.828G>T r.(?) p.(Gln276His) g.135535107C>A Copied from the Exome Variant Server DDX31_000089 2/13006 0/8600 2/4406
1 c.838+28T>G r.(=) p.(=) g.135535069A>C Copied from the Exome Variant Server DDX31_000088 1/13004 1/8598 0/4406
1 c.839-47A>T r.(=) p.(=) g.135534169T>A Copied from the Exome Variant Server DDX31_000087 2/13006 0/8600 2/4406
1 c.886A>G r.(?) p.(Met296Val) g.135534075T>C Copied from the Exome Variant Server DDX31_000086 1/13006 0/8600 1/4406
1 c.903+23T>G r.(=) p.(=) g.135534035A>C Copied from the Exome Variant Server DDX31_000085 2/13006 2/8600 0/4406
1 c.903+45G>A r.(=) p.(=) g.135534013C>T Copied from the Exome Variant Server DDX31_000084 1/13006 0/8600 1/4406
1 c.904-59C>T r.(=) p.(=) g.135527938G>A Copied from the Exome Variant Server DDX31_000083 1/4566 1/3182 0/1384
1 c.904C>T r.(?) p.(Arg302Cys) g.135527879G>A Copied from the Exome Variant Server DDX31_000082 1/13006 1/8600 0/4406
1 c.934G>A r.(?) p.(Val312Met) g.135527849C>T Copied from the Exome Variant Server DDX31_000081 3/13006 0/8600 3/4406
1 c.948+56G>A r.(=) p.(=) g.135527779C>T Copied from the Exome Variant Server DDX31_000080 1/4566 1/3182 0/1384
1 c.949-48A>T r.(=) p.(=) g.135526551T>A Copied from the Exome Variant Server DDX31_000079 2/13004 2/8598 0/4406
1 c.949-45del r.(=) p.(=) g.135526548del Copied from the Exome Variant Server DDX31_000078 2315/12518 991/8254 1324/4264
1 c.949-45dup r.(=) p.(=) g.135526548dup Copied from the Exome Variant Server DDX31_000077 1117/12518 955/8254 162/4264
1 c.949-45_949-44del r.(=) p.(=) g.135526547_135526548del Copied from the Exome Variant Server DDX31_000076 100/12518 21/8254 79/4264
1 c.949-43dup r.(=) p.(=) g.135526546dup Copied from the Exome Variant Server DDX31_000075 16/12518 12/8254 4/4264
1 c.949-39_949-38insG r.(=) p.(=) g.135526541_135526542insC Copied from the Exome Variant Server DDX31_000074 23/12518 13/8254 10/4264
1 c.968A>T r.(?) p.(Asp323Val) g.135526484T>A Copied from the Exome Variant Server DDX31_000073 1/13006 0/8600 1/4406
1 c.977A>T r.(?) p.(Gln326Leu) g.135526475T>A Copied from the Exome Variant Server DDX31_000072 1/13006 1/8600 0/4406
1 c.986T>A r.(?) p.(Leu329His) g.135526466A>T Copied from the Exome Variant Server DDX31_000071 1/13006 0/8600 1/4406
1 c.990+6G>A r.(=) p.(=) g.135526456C>T Copied from the Exome Variant Server DDX31_000070 1/13006 1/8600 0/4406
1 c.990+69T>C r.(=) p.(=) g.135526393A>G Copied from the Exome Variant Server DDX31_000069 1/4566 1/3182 0/1384
1 c.1007_1008del r.(?) p.(Val336Alafs*44) g.135525668_135525669del Copied from the Exome Variant Server DDX31_000068 1/12518 0/8254 1/4264
1 c.1051G>A r.(?) p.(Ala351Thr) g.135525625C>T Copied from the Exome Variant Server DDX31_000067 3/13006 0/8600 3/4406
1 c.1055+21T>C r.(=) p.(=) g.135525600A>G Copied from the Exome Variant Server DDX31_000066 1/13006 1/8600 0/4406
1 c.1055+26T>G r.(=) p.(=) g.135525595A>C Copied from the Exome Variant Server DDX31_000065 1/13006 1/8600 0/4406
1 c.1056-30C>T r.(=) p.(=) g.135523968G>A Copied from the Exome Variant Server DDX31_000064 3/12994 3/8598 0/4396
1 c.1056-15T>C r.(=) p.(=) g.135523953A>G Copied from the Exome Variant Server DDX31_000063 27/13006 0/8600 27/4406
1 c.1060C>T r.(?) p.(Arg354Cys) g.135523934G>A Copied from the Exome Variant Server DDX31_000062 9/13004 8/8598 1/4406
1 c.1061G>A r.(?) p.(Arg354His) g.135523933C>T Copied from the Exome Variant Server DDX31_000061 27/13004 24/8598 3/4406
1 c.1147C>T r.(?) p.(Arg383Trp) g.135523847G>A Copied from the Exome Variant Server DDX31_000060 1/13006 1/8600 0/4406
1 c.1175+7C>T r.(=) p.(=) g.135523812G>A Copied from the Exome Variant Server DDX31_000059 1/13006 1/8600 0/4406
1 c.1175+13C>T r.(=) p.(=) g.135523806G>A Copied from the Exome Variant Server DDX31_000058 1/13006 1/8600 0/4406
1 c.1175+40G>A r.(=) p.(=) g.135523779C>T Copied from the Exome Variant Server DDX31_000057 6/13006 1/8600 5/4406
1 c.1175+41G>C r.(=) p.(=) g.135523778C>G Copied from the Exome Variant Server DDX31_000056 3/13006 3/8600 0/4406
1 c.1175+42C>T r.(=) p.(=) g.135523777G>A Copied from the Exome Variant Server DDX31_000055 2/13006 0/8600 2/4406
1 c.1175+48C>A r.(=) p.(=) g.135523771G>T Copied from the Exome Variant Server DDX31_000054 211/13006 0/8600 211/4406
1 c.1175+50C>T r.(=) p.(=) g.135523769G>A Copied from the Exome Variant Server DDX31_000053 1/13006 0/8600 1/4406
1 c.1176-29A>G r.(=) p.(=) g.135523711T>C Copied from the Exome Variant Server DDX31_000052 32/13006 30/8600 2/4406
1 c.1176-12_1176-11insTT r.(=) p.(=) g.135523693_135523694insAA Copied from the Exome Variant Server DDX31_000051 185/12518 8/8254 177/4264
1 c.1176-11del r.(=) p.(=) g.135523693del Copied from the Exome Variant Server DDX31_000050 1088/12518 786/8254 302/4264
1 c.1176-11dup r.(=) p.(=) g.135523693dup Copied from the Exome Variant Server DDX31_000049 360/12518 62/8254 298/4264
1 c.1190G>A r.(?) p.(Gly397Asp) g.135523668C>T Copied from the Exome Variant Server DDX31_000048 7/13006 0/8600 7/4406
1 c.1247G>A r.(?) p.(Arg416Gln) g.135523611C>T Copied from the Exome Variant Server DDX31_000047 1/13006 1/8600 0/4406
1 c.1282+44A>T r.(=) p.(=) g.135523532T>A Copied from the Exome Variant Server DDX31_000046 1/13006 0/8600 1/4406
1 c.1283-36T>G r.(=) p.(=) g.135522481A>C Copied from the Exome Variant Server DDX31_000045 3/13006 3/8600 0/4406
1 c.1283-13_1283-10del r.(=) p.(=) g.135522455_135522458del Copied from the Exome Variant Server DDX31_000044 3894/12518 2797/8254 1097/4264
1 c.1283-3A>G r.spl? p.? g.135522448T>C Copied from the Exome Variant Server DDX31_000043 1/13006 1/8600 0/4406
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