Unique variants in gene DAP3

Information The variants shown are described using the NM_004632.3 transcript reference sequence.

102 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.-7-28C>G r.(=) p.(=) g.155679536C>G Copied from the Exome Variant Server DAP3_000001 1/13006 1/8600 0/4406
1 c.-7-5A>G r.(=) p.(=) g.155679559A>G Copied from the Exome Variant Server DAP3_000002 5/13006 0/8600 5/4406
1 c.6G>A r.(?) p.(Met2Ile) g.155679576G>A Copied from the Exome Variant Server DAP3_000003 1/13006 1/8600 0/4406
1 c.14G>A r.(?) p.(Gly5Glu) g.155679584G>A Copied from the Exome Variant Server DAP3_000004 38/13006 36/8600 2/4406
1 c.45+3G>A r.spl? p.? g.155679618G>A Copied from the Exome Variant Server DAP3_000005 1/13006 1/8600 0/4406
1 c.46-30C>A r.(=) p.(=) g.155686767C>A Copied from the Exome Variant Server DAP3_000006 1/13006 1/8600 0/4406
1 c.51C>T r.(=) p.(=) g.155686802C>T Copied from the Exome Variant Server DAP3_000007 1/13006 0/8600 1/4406
1 c.75G>T r.(=) p.(=) g.155686826G>T Copied from the Exome Variant Server DAP3_000008 2/13006 1/8600 1/4406
1 c.85C>T r.(?) p.(Arg29Cys) g.155686836C>T Copied from the Exome Variant Server DAP3_000009 2/13006 2/8600 0/4406
1 c.86G>A r.(?) p.(Arg29His) g.155686837G>A Copied from the Exome Variant Server DAP3_000011 1/13006 1/8600 0/4406
1 c.91A>G r.(?) p.(Ser31Gly) g.155686842A>G Copied from the Exome Variant Server DAP3_000013 1/13006 1/8600 0/4406
1 c.94A>C r.(?) p.(Ile32Leu) g.155686845A>C Copied from the Exome Variant Server DAP3_000015 4/13006 2/8600 2/4406
1 c.108A>G r.(=) p.(=) g.155686859A>G Copied from the Exome Variant Server DAP3_000017 21/13006 0/8600 21/4406
1 c.116A>G r.(?) p.(Gln39Arg) g.155686867A>G Copied from the Exome Variant Server DAP3_000019 3/13006 0/8600 3/4406
1 c.133C>G r.(?) p.(Pro45Ala) g.155686884C>G Copied from the Exome Variant Server DAP3_000021 1/13006 1/8600 0/4406
1 c.134C>T r.(?) p.(Pro45Leu) g.155686885C>T Copied from the Exome Variant Server DAP3_000023 1/13006 1/8600 0/4406
1 c.149G>A r.(?) p.(Arg50His) g.155686900G>A Copied from the Exome Variant Server DAP3_000024 1/13006 1/8600 0/4406
1 c.153C>T r.(=) p.(=) g.155686904C>T Copied from the Exome Variant Server DAP3_000026 1/13006 1/8600 0/4406
1 c.168G>A r.(=) p.(=) g.155686919G>A Copied from the Exome Variant Server DAP3_000028 1/13006 1/8600 0/4406
1 c.168+15T>C r.(=) p.(=) g.155686934T>C Copied from the Exome Variant Server DAP3_000030 1/13006 0/8600 1/4406
1 c.212C>A r.(?) p.(Ser71Tyr) g.155691351C>A Copied from the Exome Variant Server DAP3_000032 7/13006 5/8600 2/4406
1 c.242A>G r.(?) p.(His81Arg) g.155691381A>G Copied from the Exome Variant Server DAP3_000035 1/13006 0/8600 1/4406
1 c.270+26G>A r.(=) p.(=) g.155691435G>A Copied from the Exome Variant Server DAP3_000038 992/13006 7/8600 985/4406
1 c.271-50C>T r.(=) p.(=) g.155695123C>T Copied from the Exome Variant Server DAP3_000042 3/13006 0/8600 3/4406
1 c.349T>G r.(?) p.(Phe117Val) g.155695251T>G Copied from the Exome Variant Server DAP3_000044 1/13006 0/8600 1/4406
1 c.354T>C r.(=) p.(=) g.155695256T>C Copied from the Exome Variant Server DAP3_000047 3/13006 3/8600 0/4406
1 c.366A>G r.(?) p.(Ile122Met) g.155695268A>G Copied from the Exome Variant Server DAP3_000050 2/13006 2/8600 0/4406
1 c.379+15C>T r.(=) p.(=) g.155695296C>T Copied from the Exome Variant Server DAP3_000052 23/13006 18/8600 5/4406
1 c.379+18C>T r.(=) p.(=) g.155695299C>T Copied from the Exome Variant Server DAP3_000055 92/13006 1/8600 91/4406
1 c.379+30T>G r.(=) p.(=) g.155695311T>G Copied from the Exome Variant Server DAP3_000058 1/13006 1/8600 0/4406
1 c.379+39G>A r.(=) p.(=) g.155695320G>A Copied from the Exome Variant Server DAP3_000061 1/13006 1/8600 0/4406
1 c.380-47A>G r.(=) p.(=) g.155695671A>G Copied from the Exome Variant Server DAP3_000065 6/13006 5/8600 1/4406
1 c.380-34C>T r.(=) p.(=) g.155695684C>T Copied from the Exome Variant Server DAP3_000010 1/13006 0/8600 1/4406
1 c.380-17A>G r.(=) p.(=) g.155695701A>G Copied from the Exome Variant Server DAP3_000012 3/13006 0/8600 3/4406
1 c.380-3T>C r.spl? p.? g.155695715T>C Copied from the Exome Variant Server DAP3_000101 1/13006 1/8600 0/4406
1 c.444G>C r.(?) p.(Gln148His) g.155695782G>C Copied from the Exome Variant Server DAP3_000014 1/13006 1/8600 0/4406
1 c.472+33A>G r.(=) p.(=) g.155695843A>G Copied from the Exome Variant Server DAP3_000016 5/13006 3/8600 2/4406
1 c.473-21T>C r.(=) p.(=) g.155697378T>C Copied from the Exome Variant Server DAP3_000018 11/13006 0/8600 11/4406
1 c.474T>C r.(=) p.(=) g.155697400T>C Copied from the Exome Variant Server DAP3_000020 1/13006 1/8600 0/4406
1 c.486G>A r.(=) p.(=) g.155697412G>A Copied from the Exome Variant Server DAP3_000022 1/13006 0/8600 1/4406
1 c.515G>A r.(?) p.(Ser172Asn) g.155697441G>A Copied from the Exome Variant Server DAP3_000102 1/13006 1/8600 0/4406
1 c.530G>A r.(?) p.(Arg177His) g.155697456G>A Copied from the Exome Variant Server DAP3_000025 1/13006 1/8600 0/4406
1 c.575A>G r.(?) p.(Lys192Arg) g.155697501A>G Copied from the Exome Variant Server DAP3_000027 2/13006 2/8600 0/4406
1 c.589C>T r.(?) p.(Arg197Cys) g.155697515C>T Copied from the Exome Variant Server DAP3_000029 4/13006 1/8600 3/4406
1 c.600C>T r.(=) p.(=) g.155697526C>T Copied from the Exome Variant Server DAP3_000031 11/13006 10/8600 1/4406
1 c.603+16G>A r.(=) p.(=) g.155697545G>A Copied from the Exome Variant Server DAP3_000034 4/13006 0/8600 4/4406
1 c.603+22G>A r.(=) p.(=) g.155697551G>A Copied from the Exome Variant Server DAP3_000037 1/13006 0/8600 1/4406
1 c.603+34del r.(=) p.(=) g.155697563del Copied from the Exome Variant Server DAP3_000040 17/12520 0/8254 17/4266
1 c.604-37_604-36insT r.(=) p.(=) g.155698796_155698797insT Copied from the Exome Variant Server DAP3_000046 57/12292 42/8174 15/4118
1 c.604-27G>T r.(=) p.(=) g.155698806G>T Copied from the Exome Variant Server DAP3_000049 53/12898 0/8562 53/4336
1 c.604-21A>T r.(=) p.(=) g.155698812A>T Copied from the Exome Variant Server DAP3_000053 3/12936 2/8578 1/4358
1 c.621G>T r.(?) p.(Lys207Asn) g.155698850G>T Copied from the Exome Variant Server DAP3_000056 1/13006 0/8600 1/4406
1 c.666G>A r.(=) p.(=) g.155698895G>A Copied from the Exome Variant Server DAP3_000059 1/13006 0/8600 1/4406
1 c.684+4T>G r.spl? p.? g.155698917T>G Copied from the Exome Variant Server DAP3_000062 5/13006 5/8600 0/4406
1 c.684+16C>T r.(=) p.(=) g.155698929C>T Copied from the Exome Variant Server DAP3_000064 1/13006 0/8600 1/4406
1 c.684+30T>C r.(=) p.(=) g.155698943T>C Copied from the Exome Variant Server DAP3_000067 1/13006 0/8600 1/4406
1 c.684+32C>A r.(=) p.(=) g.155698945C>A Copied from the Exome Variant Server DAP3_000033 2/13006 2/8600 0/4406
1 c.685-38C>T r.(=) p.(=) g.155698961C>T Copied from the Exome Variant Server DAP3_000036 1/13006 1/8600 0/4406
1 c.685-21A>G r.(=) p.(=) g.155698978A>G Copied from the Exome Variant Server DAP3_000039 54/13006 47/8600 7/4406
1 c.685-5A>T r.spl? p.? g.155698994A>T Copied from the Exome Variant Server DAP3_000041 1/13006 0/8600 1/4406
1 c.695G>C r.(?) p.(Arg232Pro) g.155699009G>C Copied from the Exome Variant Server DAP3_000043 1/13006 1/8600 0/4406
1 c.697G>A r.(?) p.(Val233Met) g.155699011G>A Copied from the Exome Variant Server DAP3_000045 1/13006 1/8600 0/4406
1 c.716C>G r.(?) p.(Ala239Gly) g.155699030C>G Copied from the Exome Variant Server DAP3_000048 4/13006 0/8600 4/4406
1 c.718del r.(?) p.(Val240Leufs*5) g.155699032del Copied from the Exome Variant Server DAP3_000051 4/12520 0/8254 4/4266
1 c.718G>T r.(?) p.(Val240Phe) g.155699032G>T Copied from the Exome Variant Server DAP3_000054 81/13006 0/8600 81/4406
1 c.739C>T r.(=) p.(=) g.155699053C>T Copied from the Exome Variant Server DAP3_000057 1/13006 1/8600 0/4406
1 c.743A>G r.(?) p.(Lys248Arg) g.155699057A>G Copied from the Exome Variant Server DAP3_000060 1/13006 1/8600 0/4406
1 c.804T>C r.(=) p.(=) g.155699118T>C Copied from the Exome Variant Server DAP3_000063 883/13006 429/8600 454/4406
1 c.842C>G r.(?) p.(Pro281Arg) g.155699156C>G Copied from the Exome Variant Server DAP3_000066 1/13006 0/8600 1/4406
1 c.843+1G>A r.spl? p.? g.155699158G>A Copied from the Exome Variant Server DAP3_000068 3/13006 0/8600 3/4406
1 c.843+10C>T r.(=) p.(=) g.155699167C>T Copied from the Exome Variant Server DAP3_000069 1/13006 1/8600 0/4406
1 c.843+17T>A r.(=) p.(=) g.155699174T>A Copied from the Exome Variant Server DAP3_000070 1/13004 1/8598 0/4406
1 c.843+30T>G r.(=) p.(=) g.155699187T>G Copied from the Exome Variant Server DAP3_000071 72/13002 0/8598 72/4404
1 c.843+48A>G r.(=) p.(=) g.155699205A>G Copied from the Exome Variant Server DAP3_000072 1/12980 0/8590 1/4390
1 c.844-36G>A r.(=) p.(=) g.155701111G>A Copied from the Exome Variant Server DAP3_000073 2/13006 1/8600 1/4406
1 c.844-27T>C r.(=) p.(=) g.155701120T>C Copied from the Exome Variant Server DAP3_000074 2/13006 0/8600 2/4406
1 c.844-24_844-23del r.(=) p.(=) g.155701123_155701124del Copied from the Exome Variant Server DAP3_000075 21/12520 14/8254 7/4266
1 c.844-10C>T r.(=) p.(=) g.155701137C>T Copied from the Exome Variant Server DAP3_000076 1/13006 1/8600 0/4406
1 c.882G>C r.(?) p.(Arg294Ser) g.155701185G>C Copied from the Exome Variant Server DAP3_000077 1/13006 0/8600 1/4406
1 c.888G>A r.(?) p.(Met296Ile) g.155701191G>A Copied from the Exome Variant Server DAP3_000078 3/13006 2/8600 1/4406
1 c.903+3A>G r.spl? p.? g.155701209A>G Copied from the Exome Variant Server DAP3_000079 75/13006 72/8600 3/4406
1 c.903+17C>A r.(=) p.(=) g.155701223C>A Copied from the Exome Variant Server DAP3_000080 1/13006 1/8600 0/4406
1 c.903+32del r.(=) p.(=) g.155701238del Copied from the Exome Variant Server DAP3_000081 2/12520 2/8254 0/4266
1 c.903+42A>G r.(=) p.(=) g.155701248A>G Copied from the Exome Variant Server DAP3_000082 2/13006 2/8600 0/4406
1 c.903+57A>G r.(=) p.(=) g.155701263A>G Copied from the Exome Variant Server DAP3_000083 1/4566 1/3182 0/1384
1 c.912C>T r.(=) p.(=) g.155701743C>T Copied from the Exome Variant Server DAP3_000084 11/13006 2/8600 9/4406
1 c.913G>A r.(?) p.(Ala305Thr) g.155701744G>A Copied from the Exome Variant Server DAP3_000085 1/13006 1/8600 0/4406
1 c.923C>T r.(?) p.(Ser308Leu) g.155701754C>T Copied from the Exome Variant Server DAP3_000086 1/13006 0/8600 1/4406
1 c.927T>C r.(=) p.(=) g.155701758T>C Copied from the Exome Variant Server DAP3_000087 2/13006 0/8600 2/4406
1 c.993+1G>A r.spl? p.? g.155701825G>A Copied from the Exome Variant Server DAP3_000088 1/13006 0/8600 1/4406
1 c.994-23T>G r.(=) p.(=) g.155706714T>G Copied from the Exome Variant Server DAP3_000089 2/13006 0/8600 2/4406
1 c.1033G>A r.(?) p.(Val345Ile) g.155706776G>A Copied from the Exome Variant Server DAP3_000090 63/13006 59/8600 4/4406
1 c.1056A>G r.(=) p.(=) g.155706799A>G Copied from the Exome Variant Server DAP3_000091 1/13006 0/8600 1/4406
1 c.1074G>C r.(?) p.(Gln358His) g.155706817G>C Copied from the Exome Variant Server DAP3_000092 12/13006 10/8600 2/4406
1 c.1111+1_1111+2insT r.spl? p.? g.155706855_155706856insT Copied from the Exome Variant Server DAP3_000093 1/12518 0/8254 1/4264
1 c.1112-24_1112-23insA r.(=) p.(=) g.155707924_155707925insA Copied from the Exome Variant Server DAP3_000094 17/12520 0/8254 17/4266
1 c.1119_1121del r.(?) p.(Glu375del) g.155707955_155707957del Copied from the Exome Variant Server DAP3_000095 193/12520 155/8254 38/4266
1 c.1179G>A r.(=) p.(=) g.155708015G>A Copied from the Exome Variant Server DAP3_000096 1/13006 0/8600 1/4406
1 c.1183T>A r.(?) p.(Cys395Ser) g.155708019T>A Copied from the Exome Variant Server DAP3_000097 1/13006 0/8600 1/4406
1 c.*1G>A r.(=) p.(=) g.155708034G>A Copied from the Exome Variant Server DAP3_000098 14/13006 13/8600 1/4406
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