Unique variants in gene XPC

Information The variants shown are described using the NM_004628.4 transcript reference sequence.

196 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.-46G>C r.(=) p.(=) g.14220114C>G Copied from the Exome Variant Server XPC_000192 3/12306 3/8306 0/4000
1 c.-41G>A r.(=) p.(=) g.14220109C>T Copied from the Exome Variant Server XPC_000190 1/12298 0/8298 1/4000
1 c.-30C>A r.(=) p.(=) g.14220098G>T Copied from the Exome Variant Server XPC_000188 2/12270 0/8290 2/3980
1 c.-27G>C r.(=) p.(=) g.14220095C>G Copied from the Exome Variant Server XPC_000186 5324/12248 3916/8282 1408/3966
1 c.-22G>A r.(=) p.(=) g.14220090C>T Copied from the Exome Variant Server XPC_000184 113/12242 1/8280 112/3962
1 c.-9A>T r.(=) p.(=) g.14220077T>A Copied from the Exome Variant Server XPC_000182 1/12220 1/8276 0/3944
1 c.8G>A r.(?) p.(Arg3Gln) g.14220061C>T Copied from the Exome Variant Server XPC_000181 1/12124 0/8240 1/3884
1 c.26G>T r.(?) p.(Gly9Val) g.14220043C>A Copied from the Exome Variant Server XPC_000180 1/12020 1/8184 0/3836
1 c.37G>C r.(?) p.(Gly13Arg) g.14220032C>G Copied from the Exome Variant Server XPC_000178 6/12100 5/8220 1/3880
1 c.42C>T r.(=) p.(=) g.14220027G>A Copied from the Exome Variant Server XPC_000176 1/12116 1/8216 0/3900
1 c.46C>G r.(?) p.(Leu16Val) g.14220023G>C Copied from the Exome Variant Server XPC_000174 60/12152 43/8234 17/3918
1 c.90G>A r.(=) p.(=) g.14219979C>T Copied from the Exome Variant Server XPC_000172 1/12120 1/8242 0/3878
1 c.91G>A r.(?) p.(Glu31Lys) g.14219978C>T Copied from the Exome Variant Server XPC_000196 1/12132 1/8250 0/3882
1 c.102G>A r.(=) p.(=) g.14219967C>T Copied from the Exome Variant Server XPC_000195 1/12098 1/8230 0/3868
1 c.101_103del r.(?) p.(Glu34del) g.14219966_14219968del Copied from the Exome Variant Server XPC_000193 1021/11484 706/7820 315/3664
1 c.101_103dup r.(?) p.(Glu34dup) g.14219966_14219968dup Copied from the Exome Variant Server XPC_000194 2/11484 1/7820 1/3664
1 c.103+34C>G r.(=) p.(=) g.14219932G>C Copied from the Exome Variant Server XPC_000191 56/11620 53/7978 3/3642
1 c.104-31C>T r.(=) p.(=) g.14214593G>A Copied from the Exome Variant Server XPC_000189 1/12284 0/8304 1/3980
1 c.125C>A r.(?) p.(Pro42His) g.14214541G>T Copied from the Exome Variant Server XPC_000187 1/12028 1/8234 0/3794
1 c.142C>T r.(?) p.(Leu48Phe) g.14214524G>A Copied from the Exome Variant Server XPC_000185 255/11972 236/8216 19/3756
1 c.147C>T r.(=) p.(=) g.14214519G>A Copied from the Exome Variant Server XPC_000183 1/11956 0/8212 1/3744
1 c.149A>G r.(?) p.(Lys50Arg) g.14214517T>C Copied from the Exome Variant Server XPC_000179 1/11944 0/8208 1/3736
1 c.191G>A r.(?) p.(Gly64Glu) g.14214475C>T Copied from the Exome Variant Server XPC_000177 2/11958 1/8214 1/3744
1 c.255C>G r.(=) p.(=) g.14214411G>C Copied from the Exome Variant Server XPC_000175 1/12060 0/8240 1/3820
1 c.259G>C r.(?) p.(Val87Leu) g.14214407C>G Copied from the Exome Variant Server XPC_000173 1/12056 0/8244 1/3812
1 c.287G>A r.(?) p.(Gly96Glu) g.14214379C>T Copied from the Exome Variant Server XPC_000171 3/12088 0/8254 3/3834
1 c.299+6A>G r.(=) p.(=) g.14214361T>C Copied from the Exome Variant Server XPC_000170 1/12062 1/8252 0/3810
1 c.299+42T>C r.(=) p.(=) g.14214325A>G Copied from the Exome Variant Server XPC_000169 7/11920 0/8196 7/3724
1 c.300-30_300-28del r.(=) p.(=) g.14212078_14212080del Copied from the Exome Variant Server XPC_000168 8/11506 0/7876 8/3630
1 c.300G>A r.(=) p.(=) g.14212050C>T Copied from the Exome Variant Server XPC_000166 284/12024 1/8250 283/3774
1 c.303C>T r.(=) p.(=) g.14212047G>A Copied from the Exome Variant Server XPC_000164 13/12028 13/8248 0/3780
1 c.309A>G r.(=) p.(=) g.14212041T>C Copied from the Exome Variant Server XPC_000162 1/12028 1/8246 0/3782
1 c.322A>G r.(?) p.(Lys108Glu) g.14212028T>C Copied from the Exome Variant Server XPC_000160 1/12040 1/8246 0/3794
1 c.412+23C>G r.(=) p.(=) g.14211915G>C Copied from the Exome Variant Server XPC_000159 1/11926 0/8204 1/3722
1 c.412+30G>A r.(=) p.(=) g.14211908C>T Copied from the Exome Variant Server XPC_000157 1/11922 1/8200 0/3722
1 c.412+34G>A r.(=) p.(=) g.14211904C>T Copied from the Exome Variant Server XPC_000155 109/11920 9/8204 100/3716
1 c.413-49A>G r.(=) p.(=) g.14209929T>C Copied from the Exome Variant Server XPC_000153 1/12112 1/8264 0/3848
1 c.413-34A>C r.(=) p.(=) g.14209914T>G Copied from the Exome Variant Server XPC_000167 1/12012 1/8246 0/3766
1 c.413-4A>G r.spl? p.? g.14209884T>C Copied from the Exome Variant Server XPC_000165 2/12022 2/8256 0/3766
1 c.438C>T r.(=) p.(=) g.14209855G>A Copied from the Exome Variant Server XPC_000163 1/12118 1/8276 0/3842
1 c.465A>G r.(=) p.(=) g.14209828T>C Copied from the Exome Variant Server XPC_000161 3/12142 3/8284 0/3858
1 c.506C>T r.(?) p.(Thr169Met) g.14209787G>A Copied from the Exome Variant Server XPC_000158 1/12194 1/8304 0/3890
1 c.536+1G>A r.spl? p.? g.14209756C>T Copied from the Exome Variant Server XPC_000156 1/12250 1/8320 0/3930
1 c.536+36A>G r.(=) p.(=) g.14209721T>C Copied from the Exome Variant Server XPC_000154 2/12234 2/8314 0/3920
1 c.536+41G>A r.(=) p.(=) g.14209716C>T Copied from the Exome Variant Server XPC_000152 1/12224 0/8314 1/3910
1 c.537-41G>C r.(=) p.(=) g.14208794C>G Copied from the Exome Variant Server XPC_000151 1/12046 1/8240 0/3806
1 c.537-11A>G r.(=) p.(=) g.14208764T>C Copied from the Exome Variant Server XPC_000150 1/11954 0/8212 1/3742
1 c.537-8_537-5del N/A N/A g.14208758_14208761del Copied from the Exome Variant Server XPC_000149 1/11474 0/7862 1/3612
1 c.574A>G r.(?) p.(Arg192Gly) g.14208716T>C Copied from the Exome Variant Server XPC_000148 3/12040 3/8232 0/3808
1 c.621+22G>A r.(=) p.(=) g.14208647C>T Copied from the Exome Variant Server XPC_000147 189/12258 174/8302 15/3956
1 c.621+24del r.(=) p.(=) g.14208645del Copied from the Exome Variant Server XPC_000146 107/11764 17/7958 90/3806
1 c.621+28C>T r.(=) p.(=) g.14208641G>A Copied from the Exome Variant Server XPC_000145 29/12278 0/8304 29/3974
1 c.621+32T>C r.(=) p.(=) g.14208637A>G Copied from the Exome Variant Server XPC_000144 2/12280 1/8300 1/3980
1 c.621+39C>T r.(=) p.(=) g.14208630G>A Copied from the Exome Variant Server XPC_000143 602/12274 47/8294 555/3980
1 c.621+42T>C r.(=) p.(=) g.14208627A>G Copied from the Exome Variant Server XPC_000142 1/12288 0/8304 1/3984
1 c.621+44C>G r.(=) p.(=) g.14208625G>C Copied from the Exome Variant Server XPC_000141 4108/12298 2207/8308 1901/3990
1 c.621+49A>G r.(=) p.(=) g.14208620T>C Copied from the Exome Variant Server XPC_000140 22/12310 20/8312 2/3998
1 c.621+52T>C r.(=) p.(=) g.14208617A>G Copied from the Exome Variant Server XPC_000139 18/4566 0/3182 18/1384
1 c.622-49G>A r.(=) p.(=) g.14207134C>T Copied from the Exome Variant Server XPC_000138 1/12164 0/8298 1/3866
1 c.622-38del r.(=) p.(=) g.14207123del Copied from the Exome Variant Server XPC_000137 1/11712 0/7956 1/3756
1 c.622-31A>G r.(=) p.(=) g.14207116T>C Copied from the Exome Variant Server XPC_000136 1/12208 0/8314 1/3894
1 c.622-16C>G r.(=) p.(=) g.14207101G>C Copied from the Exome Variant Server XPC_000135 299/12214 1/8312 298/3902
1 c.622-3C>G r.spl? p.? g.14207088G>C Copied from the Exome Variant Server XPC_000134 1/12234 0/8314 1/3920
1 c.702G>A r.(=) p.(=) g.14207005C>T Copied from the Exome Variant Server XPC_000133 1/12446 0/8390 1/4056
1 c.749A>G r.(?) p.(Asp250Gly) g.14206958T>C Copied from the Exome Variant Server XPC_000132 4/12426 0/8370 4/4056
1 c.779+11C>T r.(=) p.(=) g.14206917G>A Copied from the Exome Variant Server XPC_000131 8/12356 7/8350 1/4006
1 c.779+48G>A r.(=) p.(=) g.14206880C>T Copied from the Exome Variant Server XPC_000130 17/12332 15/8338 2/3994
1 c.780-31C>T r.(=) p.(=) g.14206464G>A Copied from the Exome Variant Server XPC_000129 1/12038 0/8238 1/3800
1 c.780-15C>T r.(=) p.(=) g.14206448G>A Copied from the Exome Variant Server XPC_000128 45/12056 0/8250 45/3806
1 c.798A>G r.(=) p.(=) g.14206415T>C Copied from the Exome Variant Server XPC_000127 1/12046 1/8248 0/3798
1 c.830A>G r.(?) p.(Asp277Gly) g.14206383T>C Copied from the Exome Variant Server XPC_000126 1/12088 0/8256 1/3832
1 c.859T>C r.(?) p.(Phe287Leu) g.14206354A>G Copied from the Exome Variant Server XPC_000125 1/12130 1/8270 0/3860
1 c.860T>G r.(?) p.(Phe287Cys) g.14206353A>C Copied from the Exome Variant Server XPC_000124 88/12120 0/8264 88/3856
1 c.872C>G r.(?) p.(Ser291Cys) g.14206341G>C Copied from the Exome Variant Server XPC_000123 9/12132 3/8266 6/3866
1 c.877C>T r.(?) p.(Arg293*) g.14206336G>A Copied from the Exome Variant Server XPC_000122 1/12122 0/8266 1/3856
1 c.900+15C>T r.(=) p.(=) g.14206298G>A Copied from the Exome Variant Server XPC_000121 6/12080 5/8256 1/3824
1 c.900+17G>C r.(=) p.(=) g.14206296C>G Copied from the Exome Variant Server XPC_000119 1/12082 0/8262 1/3820
1 c.901-22A>G r.(=) p.(=) g.14201352T>C Copied from the Exome Variant Server XPC_000117 863/11804 597/8032 266/3772
1 c.919C>T r.(?) p.(Arg307Trp) g.14201312G>A Copied from the Exome Variant Server XPC_000115 1/12054 1/8194 0/3860
1 c.986C>G r.(?) p.(Ala329Gly) g.14201245G>C Copied from the Exome Variant Server XPC_000113 1/12298 0/8338 1/3960
1 c.990+46A>G r.(=) p.(=) g.14201195T>C Copied from the Exome Variant Server XPC_000111 62/11856 0/8060 62/3796
1 c.990+49G>A r.(=) p.(=) g.14201192C>T Copied from the Exome Variant Server XPC_000109 1/11748 0/7996 1/3752
1 c.991-41_991-40del r.(=) p.(=) g.14200432_14200433del Copied from the Exome Variant Server XPC_000107 8/11308 0/7786 8/3522
1 c.991-39G>T r.(=) p.(=) g.14200431C>A Copied from the Exome Variant Server XPC_000105 6/10292 0/7156 6/3136
1 c.1001C>A r.(?) p.(Pro334His) g.14200382G>T Copied from the Exome Variant Server XPC_000103 91/10300 7/7164 84/3136
1 c.1016T>C r.(?) p.(Leu339Ser) g.14200367A>G Copied from the Exome Variant Server XPC_000101 1/10300 0/7164 1/3136
1 c.1023G>A r.(=) p.(=) g.14200360C>T Copied from the Exome Variant Server XPC_000099 3/10300 3/7164 0/3136
1 c.1029A>T r.(=) p.(=) g.14200354T>A Copied from the Exome Variant Server XPC_000120 1/10300 1/7164 0/3136
1 c.1123G>C r.(?) p.(Gly375Arg) g.14200260C>G Copied from the Exome Variant Server XPC_000118 1/10300 1/7164 0/3136
1 c.1177C>T r.(?) p.(Arg393Trp) g.14200206G>A Copied from the Exome Variant Server XPC_000116 9/10300 9/7164 0/3136
1 c.1178G>A r.(?) p.(Arg393Gln) g.14200205C>T Copied from the Exome Variant Server XPC_000114 2/10300 0/7164 2/3136
1 c.1191C>G r.(=) p.(=) g.14200192G>C Copied from the Exome Variant Server XPC_000112 1/10300 1/7164 0/3136
1 c.1246C>T r.(?) p.(Arg416Cys) g.14200137G>A Copied from the Exome Variant Server XPC_000110 1/10300 1/7164 0/3136
1 c.1250C>T r.(?) p.(Pro417Leu) g.14200133G>A Copied from the Exome Variant Server XPC_000108 3/10300 0/7164 3/3136
1 c.1264C>T r.(?) p.(Arg422Trp) g.14200119G>A Copied from the Exome Variant Server XPC_000106 1/10300 0/7164 1/3136
1 c.1265G>A r.(?) p.(Arg422Gln) g.14200118C>T Copied from the Exome Variant Server XPC_000104 1/10300 1/7164 0/3136
1 c.1268G>A r.(?) p.(Arg423Gln) g.14200115C>T Copied from the Exome Variant Server XPC_000102 1/10300 1/7164 0/3136
1 c.1362T>C r.(=) p.(=) g.14200021A>G Copied from the Exome Variant Server XPC_000100 98/10300 1/7164 97/3136
1 c.1380C>T r.(=) p.(=) g.14200003G>A Copied from the Exome Variant Server XPC_000098 1/10300 1/7164 0/3136
1 c.1414G>A r.(?) p.(Ala472Thr) g.14199969C>T Copied from the Exome Variant Server XPC_000097 1/10300 0/7164 1/3136
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