Full data view for gene AATK

Information The variants shown are described using the NM_004920.2 transcript reference sequence.

244 entries on 3 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-2763G>A r.(=) p.(=) g.79108344C>T Copied from the Exome Variant Server AATK_000242 638/10220 580/7126 58/3094 - - - - - - -
?/? c.-2751T>C r.(=) p.(=) g.79108332A>G Copied from the Exome Variant Server AATK_000241 40/10262 1/7156 39/3106 - - - - - - -
?/? c.-2737A>G r.(=) p.(=) g.79108318T>C Copied from the Exome Variant Server AATK_000240 2193/10264 1778/7156 415/3108 - - - - - - -
?/? c.-2729C>T r.(=) p.(=) g.79108310G>A Copied from the Exome Variant Server AATK_000239 1/10270 0/7158 1/3112 - - - - - - -
?/? c.-2711C>T r.(=) p.(=) g.79108292G>A Copied from the Exome Variant Server AATK_000238 1/10288 1/7158 0/3130 - - - - - - -
?/? c.-2691C>A r.(=) p.(=) g.79108272G>T Copied from the Exome Variant Server AATK_000237 1/10292 1/7160 0/3132 - - - - - - -
?/? c.-2646G>A r.(=) p.(=) g.79108227C>T Copied from the Exome Variant Server AATK_000235 2/10296 0/7160 2/3136 - - - - - - -
?/? c.-2630T>C r.(=) p.(=) g.79108211A>G Copied from the Exome Variant Server AATK_000233 1/10292 0/7160 1/3132 - - - - - - -
?/? c.-2619C>T r.(=) p.(=) g.79108200G>A Copied from the Exome Variant Server AATK_000231 1/10296 0/7162 1/3134 - - - - - - -
?/? c.-2602C>T r.(=) p.(=) g.79108183G>A Copied from the Exome Variant Server AATK_000229 1/10290 0/7158 1/3132 - - - - - - -
?/? c.-2570G>A r.(=) p.(=) g.79108151C>T Copied from the Exome Variant Server AATK_000227 1/10288 1/7158 0/3130 - - - - - - -
?/? c.-2569C>T r.(=) p.(=) g.79108150G>A Copied from the Exome Variant Server AATK_000225 1/10290 1/7160 0/3130 - - - - - - -
?/? c.-2549C>T r.(=) p.(=) g.79108130G>A Copied from the Exome Variant Server AATK_000243 1/10284 1/7158 0/3126 - - - - - - -
?/? c.-2546A>G r.(=) p.(=) g.79108127T>C Copied from the Exome Variant Server AATK_000223 2/10282 0/7156 2/3126 - - - - - - -
?/? c.-1560C>T r.(=) p.(=) g.79107141G>A Copied from the Exome Variant Server AATK_000221 1/12282 1/8244 0/4038 - - - - - - -
?/? c.-1521C>T N/A N/A g.79107102G>A Copied from the Exome Variant Server AATK_000219 1/12378 1/8320 0/4058 - - - - - - -
?/? c.-1503C>T N/A N/A g.79107084G>A Copied from the Exome Variant Server AATK_000216 3/12376 0/8326 3/4050 - - - - - - -
?/? c.-1502G>A N/A N/A g.79107083C>T Copied from the Exome Variant Server AATK_000214 1/12360 1/8322 0/4038 - - - - - - -
?/? c.-1437del N/A N/A g.79107018del Copied from the Exome Variant Server AATK_000212 808/11610 576/7902 232/3708 - - - - - - -
?/? c.-1392C>T r.(=) p.(=) g.79106973G>A Copied from the Exome Variant Server AATK_000210 2/12004 1/8206 1/3798 - - - - - - -
?/? c.-1381G>A r.(=) p.(=) g.79106962C>T Copied from the Exome Variant Server AATK_000244 38/11932 0/8158 38/3774 - - - - - - -
?/? c.-905C>T r.(=) p.(=) g.79106486G>A Copied from the Exome Variant Server AATK_000207 1/12314 1/8304 0/4010 - - - - - - -
?/? c.-898_-895del r.(=) p.(=) g.79106476_79106479del Copied from the Exome Variant Server AATK_000205 30/11480 19/7780 11/3700 - - - - - - -
?/? c.-883G>A r.(=) p.(=) g.79106464C>T Copied from the Exome Variant Server AATK_000236 1/11964 1/8146 0/3818 - - - - - - -
?/? c.-859C>T r.(=) p.(=) g.79106440G>A Copied from the Exome Variant Server AATK_000234 2/11758 2/8016 0/3742 - - - - - - -
?/? c.-858G>C r.(=) p.(=) g.79106439C>G Copied from the Exome Variant Server AATK_000232 1/11718 0/7996 1/3722 - - - - - - -
?/? c.-253A>G r.(=) p.(=) g.79105834T>C Copied from the Exome Variant Server AATK_000230 752/11480 322/7890 430/3590 - - - - - - -
?/? c.-213C>T r.(=) p.(=) g.79105794G>A Copied from the Exome Variant Server AATK_000228 1/11908 1/8156 0/3752 - - - - - - -
?/? c.-180C>T r.(=) p.(=) g.79105761G>A Copied from the Exome Variant Server AATK_000226 1/12060 1/8216 0/3844 - - - - - - -
?/? c.-131G>A r.(=) p.(=) g.79105712C>T Copied from the Exome Variant Server AATK_000224 1/12334 1/8308 0/4026 - - - - - - -
?/? c.-128G>A r.(=) p.(=) g.79105709C>T Copied from the Exome Variant Server AATK_000222 1/12332 0/8312 1/4020 - - - - - - -
?/? c.-120-15C>T r.(=) p.(=) g.79105020G>A Copied from the Exome Variant Server AATK_000220 1/11764 0/8060 1/3704 - - - - - - -
?/? c.-120-9G>T r.(=) p.(=) g.79105014C>A Copied from the Exome Variant Server AATK_000218 2/11852 2/8104 0/3748 - - - - - - -
?/? c.-107C>T r.(=) p.(=) g.79104992G>A Copied from the Exome Variant Server AATK_000217 52/12156 0/8240 52/3916 - - - - - - -
?/? c.-106G>A r.(=) p.(=) g.79104991C>T Copied from the Exome Variant Server AATK_000215 1/12210 1/8260 0/3950 - - - - - - -
?/? c.-101G>C r.(=) p.(=) g.79104986C>G Copied from the Exome Variant Server AATK_000213 9/12266 9/8278 0/3988 - - - - - - -
?/? c.-91C>T r.(=) p.(=) g.79104976G>A Copied from the Exome Variant Server AATK_000211 3/12318 2/8286 1/4032 - - - - - - -
?/? c.-85C>T r.(=) p.(=) g.79104970G>A Copied from the Exome Variant Server AATK_000209 10/12316 10/8278 0/4038 - - - - - - -
?/? c.-84G>A r.(=) p.(=) g.79104969C>T Copied from the Exome Variant Server AATK_000208 11/12324 7/8280 4/4044 - - - - - - -
?/? c.-81C>A r.(=) p.(=) g.79104966G>T Copied from the Exome Variant Server AATK_000206 3/12328 0/8282 3/4046 - - - - - - -
?/? c.-76G>A r.(=) p.(=) g.79104961C>T Copied from the Exome Variant Server AATK_000204 42/12344 41/8292 1/4052 - - - - - - -
?/? c.-74A>G r.(=) p.(=) g.79104959T>C Copied from the Exome Variant Server AATK_000203 1/12356 0/8296 1/4060 - - - - - - -
?/? c.-60A>G r.(=) p.(=) g.79104945T>C Copied from the Exome Variant Server AATK_000202 43/12380 0/8298 43/4082 - - - - - - -
?/? c.-58G>A r.(=) p.(=) g.79104943C>T Copied from the Exome Variant Server AATK_000201 81/12370 0/8298 81/4072 - - - - - - -
?/? c.-37C>T r.(=) p.(=) g.79104922G>A Copied from the Exome Variant Server AATK_000200 13/12138 13/8194 0/3944 - - - - - - -
?/? c.-39_-29del r.(=) p.(=) g.79104914_79104924del Copied from the Exome Variant Server AATK_000199 194/11310 121/7650 73/3660 - - - - - - -
?/? c.-16G>A r.(=) p.(=) g.79104901C>T Copied from the Exome Variant Server AATK_000198 2/12210 0/8210 2/4000 - - - - - - -
?/? c.19C>T r.(?) p.(Arg7Cys) g.79104867G>A Copied from the Exome Variant Server AATK_000197 3/11938 0/8072 3/3866 - - - - - - -
?/? c.25+25G>A r.(=) p.(=) g.79104836C>T Copied from the Exome Variant Server AATK_000196 6/11602 6/7904 0/3698 - - - - - - -
?/? c.25+30C>A r.(=) p.(=) g.79104831G>T Copied from the Exome Variant Server AATK_000195 1/11500 0/7832 1/3668 - - - - - - -
?/? c.26-45G>A r.(=) p.(=) g.79102394C>T Copied from the Exome Variant Server AATK_000194 87/9084 83/6136 4/2948 - - - - - - -
?/? c.36C>T r.(=) p.(=) g.79102339G>A Copied from the Exome Variant Server AATK_000193 1/10336 1/6924 0/3412 - - - - - - -
?/? c.45A>G r.(=) p.(=) g.79102330T>C Copied from the Exome Variant Server AATK_000192 794/10394 401/6956 393/3438 - - - - - - -
?/? c.48C>T r.(=) p.(=) g.79102327G>A Copied from the Exome Variant Server AATK_000191 54/10412 50/6980 4/3432 - - - - - - -
?/? c.70T>A r.(?) p.(Tyr24Asn) g.79102305A>T Copied from the Exome Variant Server AATK_000190 1/10584 1/7092 0/3492 - - - - - - -
?/? c.88C>T r.(?) p.(Arg30Cys) g.79102287G>A Copied from the Exome Variant Server AATK_000189 1/10594 0/7088 1/3506 - - - - - - -
?/? c.105+12G>A r.(=) p.(=) g.79102258C>T Copied from the Exome Variant Server AATK_000188 5/10284 0/6916 5/3368 - - - - - - -
?/? c.106-49G>A r.(=) p.(=) g.79101759C>T Copied from the Exome Variant Server AATK_000187 1/10348 1/6830 0/3518 - - - - - - -
?/? c.106-44C>T r.(=) p.(=) g.79101754G>A Copied from the Exome Variant Server AATK_000186 2/10492 1/6930 1/3562 - - - - - - -
?/? c.106-34G>A r.(=) p.(=) g.79101744C>T Copied from the Exome Variant Server AATK_000185 1/10820 0/7110 1/3710 - - - - - - -
?/? c.106-26C>T r.(=) p.(=) g.79101736G>A Copied from the Exome Variant Server AATK_000184 1/11054 0/7294 1/3760 - - - - - - -
?/? c.106-25G>A r.(=) p.(=) g.79101735C>T Copied from the Exome Variant Server AATK_000183 1/11130 1/7336 0/3794 - - - - - - -
?/? c.111C>T r.(=) p.(=) g.79101705G>A Copied from the Exome Variant Server AATK_000182 34/11762 0/7770 34/3992 - - - - - - -
?/? c.119A>T r.(?) p.(Glu40Val) g.79101697T>A Copied from the Exome Variant Server AATK_000181 2/11866 2/7830 0/4036 - - - - - - -
?/? c.181G>A r.(?) p.(Val61Met) g.79101635C>T Copied from the Exome Variant Server AATK_000180 1/12056 1/7982 0/4074 - - - - - - -
?/? c.219C>T r.(=) p.(=) g.79101597G>A Copied from the Exome Variant Server AATK_000179 17/11942 1/7934 16/4008 - - - - - - -
?/? c.225-53A>C r.(=) p.(=) g.79101523T>G Copied from the Exome Variant Server AATK_000178 451/4562 230/3178 221/1384 - - - - - - -
?/? c.225-25_225-24del r.(=) p.(=) g.79101494_79101495del Copied from the Exome Variant Server AATK_000177 1/11436 1/7768 0/3668 - - - - - - -
?/? c.225-5C>T r.spl? p.? g.79101475G>A Copied from the Exome Variant Server AATK_000176 1/12256 1/8266 0/3990 - - - - - - -
?/? c.267C>T r.(=) p.(=) g.79101428G>A Copied from the Exome Variant Server AATK_000175 1/12624 0/8434 1/4190 - - - - - - -
?/? c.270C>T r.(=) p.(=) g.79101425G>A Copied from the Exome Variant Server AATK_000173 5/12650 0/8444 5/4206 - - - - - - -
?/? c.312+15G>A r.(=) p.(=) g.79101368C>T Copied from the Exome Variant Server AATK_000171 2/12600 1/8422 1/4178 - - - - - - -
?/? c.312+20del r.(=) p.(=) g.79101363del Copied from the Exome Variant Server AATK_000169 58/11974 54/8006 4/3968 - - - - - - -
?/? c.312+43G>C r.(=) p.(=) g.79101340C>G Copied from the Exome Variant Server AATK_000174 1/12266 0/8244 1/4022 - - - - - - -
?/? c.312+44G>C r.(=) p.(=) g.79101339C>G Copied from the Exome Variant Server AATK_000172 12/12240 12/8222 0/4018 - - - - - - -
?/? c.313-28G>A r.(=) p.(=) g.79100388C>T Copied from the Exome Variant Server AATK_000170 1/10482 1/7160 0/3322 - - - - - - -
?/? c.333G>A r.(=) p.(=) g.79100340C>T Copied from the Exome Variant Server AATK_000168 93/11354 87/7756 6/3598 - - - - - - -
?/? c.378C>A r.(=) p.(=) g.79100295G>T Copied from the Exome Variant Server AATK_000167 6/11896 0/8020 6/3876 - - - - - - -
?/? c.405C>A r.(=) p.(=) g.79100268G>T Copied from the Exome Variant Server AATK_000166 82/12180 0/8208 82/3972 - - - - - - -
?/? c.411C>T r.(=) p.(=) g.79100262G>A Copied from the Exome Variant Server AATK_000165 10/12224 8/8242 2/3982 - - - - - - -
?/? c.446+13G>A r.(=) p.(=) g.79100214C>T Copied from the Exome Variant Server AATK_000164 106/11748 5/7988 101/3760 - - - - - - -
?/? c.446+19C>T r.(=) p.(=) g.79100208G>A Copied from the Exome Variant Server AATK_000163 7/11648 6/7926 1/3722 - - - - - - -
?/? c.446+27G>A r.(=) p.(=) g.79100200C>T Copied from the Exome Variant Server AATK_000162 90/11482 2/7832 88/3650 - - - - - - -
?/? c.446+408G>A r.(=) p.(=) g.79099819C>T Copied from the Exome Variant Server AATK_000161 84/4566 0/3182 84/1384 - - - - - - -
?/? c.446+470G>A r.(=) p.(=) g.79099757C>T Copied from the Exome Variant Server AATK_000160 1/10170 0/7092 1/3078 - - - - - - -
?/? c.446+570C>A r.(=) p.(=) g.79099657G>T Copied from the Exome Variant Server AATK_000159 1/9720 0/6800 1/2920 - - - - - - -
?/? c.447-405T>C r.(=) p.(=) g.79099219A>G Copied from the Exome Variant Server AATK_000158 4/10224 0/7134 4/3090 - - - - - - -
?/? c.447-392C>G r.(=) p.(=) g.79099206G>C Copied from the Exome Variant Server AATK_000157 1/10258 0/7152 1/3106 - - - - - - -
?/? c.447-316C>T N/A N/A g.79099130G>A Copied from the Exome Variant Server AATK_000156 1/10288 0/7162 1/3126 - - - - - - -
?/? c.447-311C>T N/A N/A g.79099125G>A Copied from the Exome Variant Server AATK_000155 7/10286 0/7162 7/3124 - - - - - - -
?/? c.447-300C>T N/A N/A g.79099114G>A Copied from the Exome Variant Server AATK_000154 3/10286 0/7160 3/3126 - - - - - - -
?/? c.447-265T>G N/A N/A g.79099079A>C Copied from the Exome Variant Server AATK_000153 2/10270 0/7156 2/3114 - - - - - - -
?/? c.447-239_447-238insG r.(=) p.(=) g.79099052_79099053insC Copied from the Exome Variant Server AATK_000152 1/11830 1/7766 0/4064 - - - - - - -
?/? c.447-238C>T r.(=) p.(=) g.79099052G>A Copied from the Exome Variant Server AATK_000151 1/10258 1/7148 0/3110 - - - - - - -
?/? c.447-39_447-31del r.(=) p.(=) g.79098845_79098853del Copied from the Exome Variant Server AATK_000150 8717/11492 6019/7780 2698/3712 - - - - - - -
?/? c.447-33_447-31del r.(=) p.(=) g.79098845_79098847del Copied from the Exome Variant Server AATK_000149 50/11492 27/7780 23/3712 - - - - - - -
?/? c.447-33_447-25del r.(=) p.(=) g.79098839_79098847del Copied from the Exome Variant Server AATK_000148 8744/10990 6037/7508 2707/3482 - - - - - - -
?/? c.447C>T r.(=) p.(=) g.79098814G>A Copied from the Exome Variant Server AATK_000147 2/12428 1/8326 1/4102 - - - - - - -
?/? c.488C>T r.(?) p.(Thr163Met) g.79098773G>A Copied from the Exome Variant Server AATK_000146 2/12672 0/8424 2/4248 - - - - - - -
?/? c.531+10del r.(=) p.(=) g.79098720del Copied from the Exome Variant Server AATK_000145 54/11924 9/7968 45/3956 - - - - - - -
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