All transcript variants in gene DDX41

Information The variants shown are described using the NM_016222.2 transcript reference sequence.

157 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.3G>A r.? p.? g.176943944C>T Copied from the Exome Variant Server DDX41_000157 2/13004 2/8600 0/4404
?/? c.6G>T r.(?) p.(Glu2Asp) g.176943941C>A Copied from the Exome Variant Server DDX41_000156 6/13004 0/8600 6/4404
?/? c.27+5_27+6insTAGG r.spl? p.? g.176943914_176943915insCCTA Copied from the Exome Variant Server DDX41_000155 132/12518 1/8254 131/4264
?/? c.27+16G>C r.(=) p.(=) g.176943904C>G Copied from the Exome Variant Server DDX41_000154 449/13004 2/8600 447/4404
?/? c.27+19C>T r.(=) p.(=) g.176943901G>A Copied from the Exome Variant Server DDX41_000153 1/13004 1/8600 0/4404
?/? c.27+21C>A r.(=) p.(=) g.176943899G>T Copied from the Exome Variant Server DDX41_000152 4/13004 0/8600 4/4404
?/? c.28-21C>T r.(=) p.(=) g.176943857G>A Copied from the Exome Variant Server DDX41_000151 1/13000 1/8596 0/4404
?/? c.28-17C>G r.(=) p.(=) g.176943853G>C Copied from the Exome Variant Server DDX41_000150 1/13000 0/8596 1/4404
?/? c.32C>T r.(?) p.(Ala11Val) g.176943832G>A Copied from the Exome Variant Server DDX41_000149 2/12992 0/8596 2/4396
?/? c.84G>A r.(=) p.(=) g.176943780C>T Copied from the Exome Variant Server DDX41_000148 1/13002 0/8598 1/4404
?/? c.87C>T r.(=) p.(=) g.176943777G>A Copied from the Exome Variant Server DDX41_000147 2/13002 0/8598 2/4404
?/? c.90C>T r.(=) p.(=) g.176943774G>A Copied from the Exome Variant Server DDX41_000146 1/13002 1/8598 0/4404
?/? c.97T>C r.(?) p.(Tyr33His) g.176943767A>G Copied from the Exome Variant Server DDX41_000145 3/13000 0/8598 3/4402
?/? c.99C>T r.(=) p.(=) g.176943765G>A Copied from the Exome Variant Server DDX41_000144 1/12998 1/8598 0/4400
?/? c.113C>T r.(?) p.(Pro38Leu) g.176943751G>A Copied from the Exome Variant Server DDX41_000143 3/12996 3/8596 0/4400
?/? c.138+7G>A r.(=) p.(=) g.176943719C>T Copied from the Exome Variant Server DDX41_000142 1/12960 1/8576 0/4384
?/? c.138+32C>T r.(=) p.(=) g.176943694G>A Copied from the Exome Variant Server DDX41_000141 202/12866 186/8524 16/4342
?/? c.138+43G>A r.(=) p.(=) g.176943683C>T Copied from the Exome Variant Server DDX41_000140 4/12706 0/8424 4/4282
?/? c.139-43A>T r.(=) p.(=) g.176943491T>A Copied from the Exome Variant Server DDX41_000139 1/13006 1/8600 0/4406
?/? c.139-17C>T r.(=) p.(=) g.176943465G>A Copied from the Exome Variant Server DDX41_000138 2/13006 0/8600 2/4406
?/? c.139-4T>G r.spl? p.? g.176943452A>C Copied from the Exome Variant Server DDX41_000137 16/13006 14/8600 2/4406
?/? c.142C>T r.(?) p.(Gln48*) g.176943445G>A Copied from the Exome Variant Server DDX41_000135 1/13006 0/8600 1/4406
?/? c.222G>A r.(=) p.(=) g.176943365C>T Copied from the Exome Variant Server DDX41_000133 1/13006 0/8600 1/4406
?/? c.291G>A r.(=) p.(=) g.176943296C>T Copied from the Exome Variant Server DDX41_000131 5/13006 5/8600 0/4406
?/? c.298+24G>A r.(=) p.(=) g.176943265C>T Copied from the Exome Variant Server DDX41_000129 1/13006 1/8600 0/4406
?/? c.298+25C>T r.(=) p.(=) g.176943264G>A Copied from the Exome Variant Server DDX41_000127 7/13006 0/8600 7/4406
?/? c.298+36_298+38del r.(=) p.(=) g.176943251_176943253del Copied from the Exome Variant Server DDX41_000136 23/12518 17/8254 6/4264
?/? c.298+40T>A r.(=) p.(=) g.176943249A>T Copied from the Exome Variant Server DDX41_000134 1/13006 0/8600 1/4406
?/? c.298+42A>G r.(=) p.(=) g.176943247T>C Copied from the Exome Variant Server DDX41_000132 13/13006 0/8600 13/4406
?/? c.298+44C>T r.(=) p.(=) g.176943245G>A Copied from the Exome Variant Server DDX41_000130 1/13006 1/8600 0/4406
?/? c.299-44C>T r.(=) p.(=) g.176943238G>A Copied from the Exome Variant Server DDX41_000128 1/13006 0/8600 1/4406
?/? c.373+14C>A r.(=) p.(=) g.176943106G>T Copied from the Exome Variant Server DDX41_000126 1/13006 0/8600 1/4406
?/? c.373+47_373+49del r.(=) p.(=) g.176943071_176943073del Copied from the Exome Variant Server DDX41_000125 9/12518 0/8254 9/4264
?/? c.373+58G>A r.(=) p.(=) g.176943062C>T Copied from the Exome Variant Server DDX41_000124 2/4566 1/3182 1/1384
?/? c.374-53G>T r.(=) p.(=) g.176943043C>A Copied from the Exome Variant Server DDX41_000123 3/4566 0/3182 3/1384
?/? c.374-14G>A r.(=) p.(=) g.176943004C>T Copied from the Exome Variant Server DDX41_000122 12/13006 10/8600 2/4406
?/? c.415G>C r.(?) p.(Asp139His) g.176942949C>G Copied from the Exome Variant Server DDX41_000121 1/13006 0/8600 1/4406
?/? c.418_419insGATG r.(?) p.(Asp140Glyfs*2) g.176942945_176942946insCATC Copied from the Exome Variant Server DDX41_000120 1/12518 1/8254 0/4264
?/? c.434+14G>C r.(=) p.(=) g.176942916C>G Copied from the Exome Variant Server DDX41_000119 1/13006 1/8600 0/4406
?/? c.434+25C>T r.(=) p.(=) g.176942905G>A Copied from the Exome Variant Server DDX41_000118 20/13006 0/8600 20/4406
?/? c.434+26C>T r.(=) p.(=) g.176942904G>A Copied from the Exome Variant Server DDX41_000117 1/13006 0/8600 1/4406
?/? c.435-51C>G r.(=) p.(=) g.176942873G>C Copied from the Exome Variant Server DDX41_000116 2/13006 0/8600 2/4406
?/? c.435-28T>C r.(=) p.(=) g.176942850A>G Copied from the Exome Variant Server DDX41_000115 1/13006 1/8600 0/4406
?/? c.435-10C>T r.(=) p.(=) g.176942832G>A Copied from the Exome Variant Server DDX41_000114 1/13006 0/8600 1/4406
?/? c.462C>T r.(=) p.(=) g.176942795G>A Copied from the Exome Variant Server DDX41_000113 1/13006 0/8600 1/4406
?/? c.465G>A r.(?) p.(Met155Ile) g.176942792C>T Copied from the Exome Variant Server DDX41_000112 5/13006 5/8600 0/4406
?/? c.490C>T r.(?) p.(Arg164Trp) g.176942767G>A Copied from the Exome Variant Server DDX41_000111 2/13006 2/8600 0/4406
?/? c.523G>C r.(?) p.(Gly175Arg) g.176942734C>G Copied from the Exome Variant Server DDX41_000110 1/13006 1/8600 0/4406
?/? c.538A>G r.(?) p.(Ile180Val) g.176942719T>C Copied from the Exome Variant Server DDX41_000109 1/13006 1/8600 0/4406
?/? c.571+7A>G r.(=) p.(=) g.176942679T>C Copied from the Exome Variant Server DDX41_000108 1/13006 0/8600 1/4406
?/? c.571+13T>G r.(=) p.(=) g.176942673A>C Copied from the Exome Variant Server DDX41_000107 9/13006 9/8600 0/4406
?/? c.571+21G>C r.(=) p.(=) g.176942665C>G Copied from the Exome Variant Server DDX41_000106 2/13006 0/8600 2/4406
?/? c.571+38A>G r.(=) p.(=) g.176942648T>C Copied from the Exome Variant Server DDX41_000105 2/13006 0/8600 2/4406
?/? c.571+45G>A r.(=) p.(=) g.176942641C>T Copied from the Exome Variant Server DDX41_000104 1/13006 1/8600 0/4406
?/? c.572-42del r.(=) p.(=) g.176942301del Copied from the Exome Variant Server DDX41_000103 143/12518 0/8254 143/4264
?/? c.572-21G>A r.(=) p.(=) g.176942280C>T Copied from the Exome Variant Server DDX41_000102 1/13006 0/8600 1/4406
?/? c.572-16C>T r.(=) p.(=) g.176942275G>A Copied from the Exome Variant Server DDX41_000101 2/13006 0/8600 2/4406
?/? c.576C>T r.(=) p.(=) g.176942255G>A Copied from the Exome Variant Server DDX41_000100 1/13006 1/8600 0/4406
?/? c.591G>A r.(=) p.(=) g.176942240C>T Copied from the Exome Variant Server DDX41_000099 4/13006 4/8600 0/4406
?/? c.597A>G r.(=) p.(=) g.176942234T>C Copied from the Exome Variant Server DDX41_000098 1/13006 1/8600 0/4406
?/? c.616C>G r.(?) p.(Pro206Ala) g.176942215G>C Copied from the Exome Variant Server DDX41_000097 1/13006 1/8600 0/4406
?/? c.644T>C r.(?) p.(Ile215Thr) g.176942187A>G Copied from the Exome Variant Server DDX41_000096 1/13006 1/8600 0/4406
?/? c.644+8_644+9del r.(=) p.(=) g.176942178_176942179del Copied from the Exome Variant Server DDX41_000095 229/12518 145/8254 84/4264
?/? c.645-46T>A r.(=) p.(=) g.176942116A>T Copied from the Exome Variant Server DDX41_000094 1/13006 1/8600 0/4406
?/? c.645-24C>T r.(=) p.(=) g.176942094G>A Copied from the Exome Variant Server DDX41_000093 1/13006 0/8600 1/4406
?/? c.645-21C>T r.(=) p.(=) g.176942091G>A Copied from the Exome Variant Server DDX41_000092 20/13006 0/8600 20/4406
?/? c.649T>C r.(?) p.(Ser217Pro) g.176942066A>G Copied from the Exome Variant Server DDX41_000091 1/13006 1/8600 0/4406
?/? c.653G>A r.(?) p.(Gly218Asp) g.176942062C>T Copied from the Exome Variant Server DDX41_000090 1/13006 1/8600 0/4406
?/? c.672C>A r.(=) p.(=) g.176942043G>T Copied from the Exome Variant Server DDX41_000089 2/13006 2/8600 0/4406
?/? c.690C>G r.(=) p.(=) g.176942025G>C Copied from the Exome Variant Server DDX41_000088 4/13006 0/8600 4/4406
?/? c.712C>T r.(?) p.(Pro238Ser) g.176942003G>A Copied from the Exome Variant Server DDX41_000087 1/13006 0/8600 1/4406
?/? c.718A>G r.(?) p.(Ile240Val) g.176941997T>C Copied from the Exome Variant Server DDX41_000086 1/13006 1/8600 0/4406
?/? c.740A>G r.(?) p.(Glu247Gly) g.176941975T>C Copied from the Exome Variant Server DDX41_000085 1/13006 1/8600 0/4406
?/? c.741G>A r.(=) p.(=) g.176941974C>T Copied from the Exome Variant Server DDX41_000083 4/13006 4/8600 0/4406
?/? c.777T>C r.(=) p.(=) g.176941938A>G Copied from the Exome Variant Server DDX41_000081 1/13006 1/8600 0/4406
?/? c.798+21G>A r.(=) p.(=) g.176941896C>T Copied from the Exome Variant Server DDX41_000079 1/13006 0/8600 1/4406
?/? c.799-36G>A r.(=) p.(=) g.176941874C>T Copied from the Exome Variant Server DDX41_000084 119/13006 0/8600 119/4406
?/? c.801G>T r.(=) p.(=) g.176941836C>A Copied from the Exome Variant Server DDX41_000082 1/13006 0/8600 1/4406
?/? c.876G>A r.(=) p.(=) g.176941761C>T Copied from the Exome Variant Server DDX41_000080 1/13000 0/8596 1/4404
?/? c.907G>A r.(?) p.(Val303Met) g.176941730C>T Copied from the Exome Variant Server DDX41_000078 2/13000 2/8596 0/4404
?/? c.926C>T r.(?) p.(Thr309Ile) g.176941711G>A Copied from the Exome Variant Server DDX41_000077 1/12990 1/8588 0/4402
?/? c.935+11G>A r.(=) p.(=) g.176941691C>T Copied from the Exome Variant Server DDX41_000076 2/12940 0/8556 2/4384
?/? c.935+26C>G r.(=) p.(=) g.176941676G>C Copied from the Exome Variant Server DDX41_000075 6/12794 0/8446 6/4348
?/? c.935+41C>T r.(=) p.(=) g.176941661G>A Copied from the Exome Variant Server DDX41_000074 1/12598 0/8334 1/4264
?/? c.936-29C>T r.(=) p.(=) g.176940877G>A Copied from the Exome Variant Server DDX41_000073 153/13002 1/8598 152/4404
?/? c.936-23C>G r.(=) p.(=) g.176940871G>C Copied from the Exome Variant Server DDX41_000072 12569/13000 8596/8598 3973/4402
?/? c.936C>T r.(=) p.(=) g.176940848G>A Copied from the Exome Variant Server DDX41_000071 1/13006 1/8600 0/4406
?/? c.945C>T r.(=) p.(=) g.176940839G>A Copied from the Exome Variant Server DDX41_000070 1/13006 1/8600 0/4406
?/? c.1013G>C r.(?) p.(Cys338Ser) g.176940771C>G Copied from the Exome Variant Server DDX41_000069 1/13006 1/8600 0/4406
?/? c.1033G>A r.(?) p.(Glu345Lys) g.176940751C>T Copied from the Exome Variant Server DDX41_000068 1/13006 1/8600 0/4406
?/? c.1098+11C>T r.(=) p.(=) g.176940675G>A Copied from the Exome Variant Server DDX41_000067 2/13006 2/8600 0/4406
?/? c.1098+12G>C r.(=) p.(=) g.176940674C>G Copied from the Exome Variant Server DDX41_000066 1/13006 1/8600 0/4406
?/? c.1098+34C>G r.(=) p.(=) g.176940652G>C Copied from the Exome Variant Server DDX41_000065 34/13002 0/8596 34/4406
?/? c.1098+35G>A r.(=) p.(=) g.176940651C>T Copied from the Exome Variant Server DDX41_000064 2/13000 2/8594 0/4406
?/? c.1098+39C>T r.(=) p.(=) g.176940647G>A Copied from the Exome Variant Server DDX41_000063 1/13000 0/8594 1/4406
?/? c.1098+48C>T r.(=) p.(=) g.176940638G>A Copied from the Exome Variant Server DDX41_000062 24/12996 1/8590 23/4406
?/? c.1099-49C>T r.(=) p.(=) g.176940534G>A Copied from the Exome Variant Server DDX41_000061 7/13006 0/8600 7/4406
?/? c.1099-34G>C r.(=) p.(=) g.176940519C>G Copied from the Exome Variant Server DDX41_000060 2/13006 0/8600 2/4406
?/? c.1099-11del r.(=) p.(=) g.176940496del Copied from the Exome Variant Server DDX41_000059 3/12508 1/8250 2/4258
?/? c.1137G>A r.(=) p.(=) g.176940447C>T Copied from the Exome Variant Server DDX41_000058 1/13006 1/8600 0/4406
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