All transcript variants in gene RFC1

Information The variants shown are described using the NM_002913.4 transcript reference sequence.

222 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     
?/? c.-63C>T r.(=) p.(=) g.39367924G>A Copied from the Exome Variant Server RFC1_000222 94/4470 0/3126 94/1344
?/? c.3+29C>T r.(=) p.(=) g.39367830G>A Copied from the Exome Variant Server RFC1_000221 1/12644 1/8360 0/4284
?/? c.3+35C>T r.(=) p.(=) g.39367824G>A Copied from the Exome Variant Server RFC1_000220 84/12654 1/8370 83/4284
?/? c.3+39G>A r.(=) p.(=) g.39367820C>T Copied from the Exome Variant Server RFC1_000219 1/12662 0/8380 1/4282
?/? c.3+42G>A r.(=) p.(=) g.39367817C>T Copied from the Exome Variant Server RFC1_000218 41/12670 1/8386 40/4284
?/? c.4-41G>A r.(=) p.(=) g.39353137C>T Copied from the Exome Variant Server RFC1_000217 2/12928 2/8562 0/4366
?/? c.4-26G>A r.(=) p.(=) g.39353122C>T Copied from the Exome Variant Server RFC1_000216 12633/12950 8573/8578 4060/4372
?/? c.53G>A r.(?) p.(Ser18Asn) g.39353047C>T Copied from the Exome Variant Server RFC1_000215 28/12992 27/8592 1/4400
?/? c.63A>G r.(=) p.(=) g.39353037T>C Copied from the Exome Variant Server RFC1_000214 1/12992 0/8590 1/4402
?/? c.132+50C>T r.(=) p.(=) g.39352918G>A Copied from the Exome Variant Server RFC1_000213 121/12978 105/8586 16/4392
?/? c.133-51del r.(=) p.(=) g.39347147del Copied from the Exome Variant Server RFC1_000212 890/12446 595/8212 295/4234
?/? c.133-51dup r.(=) p.(=) g.39347147dup Copied from the Exome Variant Server RFC1_000211 973/12446 656/8212 317/4234
?/? c.133-16A>G r.(=) p.(=) g.39347112T>C Copied from the Exome Variant Server RFC1_000210 1/13004 1/8600 0/4404
?/? c.133-4A>G r.spl? p.? g.39347100T>C Copied from the Exome Variant Server RFC1_000209 3/13004 3/8600 0/4404
?/? c.208+30T>C r.(=) p.(=) g.39346991A>G Copied from the Exome Variant Server RFC1_000207 89/13000 1/8596 88/4404
?/? c.208+45A>G r.(=) p.(=) g.39346976T>C Copied from the Exome Variant Server RFC1_000205 1/12996 1/8594 0/4402
?/? c.208+49C>T r.(=) p.(=) g.39346972G>A Copied from the Exome Variant Server RFC1_000203 4/12996 0/8594 4/4402
?/? c.209-52A>G r.(=) p.(=) g.39344139T>C Copied from the Exome Variant Server RFC1_000201 90/7270 4/4616 86/2654
?/? c.209-24G>A r.(=) p.(=) g.39344111C>T Copied from the Exome Variant Server RFC1_000199 28/13004 0/8600 28/4404
?/? c.209-6A>T r.(=) p.(=) g.39344093T>A Copied from the Exome Variant Server RFC1_000197 43/13006 1/8600 42/4406
?/? c.217T>A r.(?) p.(Ser73Thr) g.39344079A>T Copied from the Exome Variant Server RFC1_000195 1/13006 1/8600 0/4406
?/? c.281A>G r.(?) p.(Lys94Arg) g.39344015T>C Copied from the Exome Variant Server RFC1_000194 1/13006 1/8600 0/4406
?/? c.298C>T r.(?) p.(Arg100Trp) g.39343998G>A Copied from the Exome Variant Server RFC1_000208 1/13006 1/8600 0/4406
?/? c.302A>G r.(?) p.(Gln101Arg) g.39343994T>C Copied from the Exome Variant Server RFC1_000206 7/13006 5/8600 2/4406
?/? c.304G>C r.(?) p.(Asp102His) g.39343992C>G Copied from the Exome Variant Server RFC1_000204 1/13006 0/8600 1/4406
?/? c.315A>G r.(=) p.(=) g.39343981T>C Copied from the Exome Variant Server RFC1_000202 2/13006 0/8600 2/4406
?/? c.324A>G r.(=) p.(=) g.39343972T>C Copied from the Exome Variant Server RFC1_000200 1/13006 0/8600 1/4406
?/? c.331+25G>T r.(=) p.(=) g.39343940C>A Copied from the Exome Variant Server RFC1_000198 5144/13006 4518/8600 626/4406
?/? c.331+30C>T r.(=) p.(=) g.39343935G>A Copied from the Exome Variant Server RFC1_000196 1/13006 1/8600 0/4406
?/? c.331+41T>C r.(=) p.(=) g.39343924A>G Copied from the Exome Variant Server RFC1_000193 1/13006 0/8600 1/4406
?/? c.332-45C>T r.(=) p.(=) g.39329421G>A Copied from the Exome Variant Server RFC1_000192 12/12860 12/8516 0/4344
?/? c.332A>T r.(?) p.(Asp111Val) g.39329376T>A Copied from the Exome Variant Server RFC1_000191 3/12996 2/8594 1/4402
?/? c.362C>T r.(?) p.(Ala121Val) g.39329346G>A Copied from the Exome Variant Server RFC1_000190 1/13002 1/8598 0/4404
?/? c.363G>A r.(=) p.(=) g.39329345C>T Copied from the Exome Variant Server RFC1_000189 5/13002 5/8598 0/4404
?/? c.363_365del r.(?) p.(Ala122del) g.39329343_39329345del Copied from the Exome Variant Server RFC1_000188 2/12516 1/8252 1/4264
?/? c.378A>G r.(=) p.(=) g.39329330T>C Copied from the Exome Variant Server RFC1_000187 1/13004 0/8598 1/4406
?/? c.396A>G r.(=) p.(=) g.39329312T>C Copied from the Exome Variant Server RFC1_000186 3/13006 0/8600 3/4406
?/? c.399T>A r.(?) p.(Asn133Lys) g.39329309A>T Copied from the Exome Variant Server RFC1_000185 1/13006 0/8600 1/4406
?/? c.469C>G r.(?) p.(Pro157Ala) g.39329239G>C Copied from the Exome Variant Server RFC1_000184 1/13006 0/8600 1/4406
?/? c.564+16A>G r.(=) p.(=) g.39329128T>C Copied from the Exome Variant Server RFC1_000183 3/13000 3/8596 0/4404
?/? c.564+42C>T r.(=) p.(=) g.39329102G>A Copied from the Exome Variant Server RFC1_000182 6105/12998 4055/8596 2050/4402
?/? c.565-45A>G r.(=) p.(=) g.39328305T>C Copied from the Exome Variant Server RFC1_000181 1/13000 1/8596 0/4404
?/? c.565-38G>T r.(=) p.(=) g.39328298C>A Copied from the Exome Variant Server RFC1_000180 2/13002 0/8596 2/4406
?/? c.565-36T>A r.(=) p.(=) g.39328296A>T Copied from the Exome Variant Server RFC1_000179 9/13002 9/8596 0/4406
?/? c.609C>A r.(=) p.(=) g.39328216G>T Copied from the Exome Variant Server RFC1_000178 1/13006 1/8600 0/4406
?/? c.610G>A r.(?) p.(Ala204Thr) g.39328215C>T Copied from the Exome Variant Server RFC1_000177 1/13006 0/8600 1/4406
?/? c.642+4T>C r.spl? p.? g.39328179A>G Copied from the Exome Variant Server RFC1_000176 3/13004 0/8598 3/4406
?/? c.642+24A>G r.(=) p.(=) g.39328159T>C Copied from the Exome Variant Server RFC1_000175 1/13006 0/8600 1/4406
?/? c.642+44del r.(=) p.(=) g.39328139del Copied from the Exome Variant Server RFC1_000174 1/12520 1/8254 0/4266
?/? c.642+51A>G r.(=) p.(=) g.39328132T>C Copied from the Exome Variant Server RFC1_000173 1/13006 1/8600 0/4406
?/? c.642+55A>G r.(=) p.(=) g.39328128T>C Copied from the Exome Variant Server RFC1_000172 1/4566 0/3182 1/1384
?/? c.643-47G>A r.(=) p.(=) g.39325084C>T Copied from the Exome Variant Server RFC1_000171 2/13006 0/8600 2/4406
?/? c.643-26A>G r.(=) p.(=) g.39325063T>C Copied from the Exome Variant Server RFC1_000170 1/13006 1/8600 0/4406
?/? c.650G>A r.(?) p.(Arg217Lys) g.39325030C>T Copied from the Exome Variant Server RFC1_000169 1/13006 0/8600 1/4406
?/? c.660del r.(?) p.(His220Glnfs*10) g.39325020del Copied from the Exome Variant Server RFC1_000168 1/12520 0/8254 1/4266
?/? c.720+3G>T r.spl? p.? g.39324957C>A Copied from the Exome Variant Server RFC1_000167 28/13006 0/8600 28/4406
?/? c.720+22T>A r.(=) p.(=) g.39324938A>T Copied from the Exome Variant Server RFC1_000166 4/13006 0/8600 4/4406
?/? c.720+24C>T r.(=) p.(=) g.39324936G>A Copied from the Exome Variant Server RFC1_000165 12/13006 0/8600 12/4406
?/? c.720+44G>T r.(=) p.(=) g.39324916C>A Copied from the Exome Variant Server RFC1_000164 1/13006 1/8600 0/4406
?/? c.720+47C>G r.(=) p.(=) g.39324913G>C Copied from the Exome Variant Server RFC1_000163 1/13006 0/8600 1/4406
?/? c.721-20C>A r.(=) p.(=) g.39323014G>T Copied from the Exome Variant Server RFC1_000162 3/13002 0/8598 3/4404
?/? c.740C>T r.(?) p.(Ala247Val) g.39322975G>A Copied from the Exome Variant Server RFC1_000161 2/13006 2/8600 0/4406
?/? c.742G>A r.(?) p.(Gly248Arg) g.39322973C>T Copied from the Exome Variant Server RFC1_000160 1/13006 1/8600 0/4406
?/? c.750G>A r.(=) p.(=) g.39322965C>T Copied from the Exome Variant Server RFC1_000159 2/13006 2/8600 0/4406
?/? c.802C>T r.(?) p.(His268Tyr) g.39322913G>A Copied from the Exome Variant Server RFC1_000158 1/13002 0/8598 1/4404
?/? c.808+29A>C r.(=) p.(=) g.39322878T>G Copied from the Exome Variant Server RFC1_000156 9/12998 0/8596 9/4402
?/? c.808+37T>C r.(=) p.(=) g.39322870A>G Copied from the Exome Variant Server RFC1_000154 1/12998 0/8596 1/4402
?/? c.809-43C>A r.(=) p.(=) g.39322332G>T Copied from the Exome Variant Server RFC1_000152 19/12966 18/8586 1/4380
?/? c.809-16T>G r.(=) p.(=) g.39322305A>C Copied from the Exome Variant Server RFC1_000150 5/12996 0/8598 5/4398
?/? c.836G>A r.(?) p.(Arg279Lys) g.39322262C>T Copied from the Exome Variant Server RFC1_000148 1/13006 0/8600 1/4406
?/? c.880A>G r.(?) p.(Lys294Glu) g.39322218T>C Copied from the Exome Variant Server RFC1_000146 1/13006 1/8600 0/4406
?/? c.1037A>G r.(?) p.(Lys346Arg) g.39322061T>C Copied from the Exome Variant Server RFC1_000144 68/13004 2/8600 66/4404
?/? c.1070C>G r.(?) p.(Thr357Ser) g.39322028G>C Copied from the Exome Variant Server RFC1_000157 5/13000 0/8598 5/4402
?/? c.1081C>T r.(?) p.(Pro361Ser) g.39322017G>A Copied from the Exome Variant Server RFC1_000155 3/12992 3/8596 0/4396
?/? c.1096-40C>T r.(=) p.(=) g.39318682G>A Copied from the Exome Variant Server RFC1_000153 1/13006 0/8600 1/4406
?/? c.1096-30_1096-29del r.(=) p.(=) g.39318671_39318672del Copied from the Exome Variant Server RFC1_000151 1/12520 1/8254 0/4266
?/? c.1126C>T r.(?) p.(Arg376Cys) g.39318612G>A Copied from the Exome Variant Server RFC1_000149 3/13006 0/8600 3/4406
?/? c.1127G>A r.(?) p.(Arg376His) g.39318611C>T Copied from the Exome Variant Server RFC1_000147 1/13006 0/8600 1/4406
?/? c.1174A>G r.(?) p.(Lys392Glu) g.39318564T>C Copied from the Exome Variant Server RFC1_000145 1/13006 1/8600 0/4406
?/? c.1203+47A>G r.(=) p.(=) g.39318488T>C Copied from the Exome Variant Server RFC1_000143 1/13006 1/8600 0/4406
?/? c.1231A>G r.(?) p.(Ile411Val) g.39314524T>C Copied from the Exome Variant Server RFC1_000142 1/13006 1/8600 0/4406
?/? c.1247G>A r.(?) p.(Gly416Asp) g.39314508C>T Copied from the Exome Variant Server RFC1_000141 1/13006 1/8600 0/4406
?/? c.1261A>G r.(?) p.(Ile421Val) g.39314494T>C Copied from the Exome Variant Server RFC1_000140 1/13006 1/8600 0/4406
?/? c.1275G>A r.(=) p.(=) g.39314480C>T Copied from the Exome Variant Server RFC1_000139 1/13006 0/8600 1/4406
?/? c.1277C>T r.(?) p.(Ala426Val) g.39314478G>A Copied from the Exome Variant Server RFC1_000138 6/13006 0/8600 6/4406
?/? c.1295G>A r.(?) p.(Arg432His) g.39314460C>T Copied from the Exome Variant Server RFC1_000137 1/13006 1/8600 0/4406
?/? c.1308A>G r.(=) p.(=) g.39314447T>C Copied from the Exome Variant Server RFC1_000136 1/13006 1/8600 0/4406
?/? c.1347C>T r.(=) p.(=) g.39314408G>A Copied from the Exome Variant Server RFC1_000135 1/13006 0/8600 1/4406
?/? c.1348A>G r.(?) p.(Met450Val) g.39314407T>C Copied from the Exome Variant Server RFC1_000134 2/13006 2/8600 0/4406
?/? c.1355G>A r.(?) p.(Arg452His) g.39314400C>T Copied from the Exome Variant Server RFC1_000133 1/13006 1/8600 0/4406
?/? c.1383+16T>G r.(=) p.(=) g.39314356A>C Copied from the Exome Variant Server RFC1_000132 1/13006 1/8600 0/4406
?/? c.1383+22_1383+27del r.(=) p.(=) g.39314345_39314350del Copied from the Exome Variant Server RFC1_000131 20/12520 4/8254 16/4266
?/? c.1383+36C>T r.(=) p.(=) g.39314336G>A Copied from the Exome Variant Server RFC1_000130 1/13006 1/8600 0/4406
?/? c.1384-36G>A r.(=) p.(=) g.39313205C>T Copied from the Exome Variant Server RFC1_000129 1/13006 0/8600 1/4406
?/? c.1386C>T r.(=) p.(=) g.39313167G>A Copied from the Exome Variant Server RFC1_000128 1/13006 0/8600 1/4406
?/? c.1387G>A r.(?) p.(Ala463Thr) g.39313166C>T Copied from the Exome Variant Server RFC1_000127 7/13006 0/8600 7/4406
?/? c.1406T>G r.(?) p.(Ile469Ser) g.39313147A>C Copied from the Exome Variant Server RFC1_000126 1/13006 0/8600 1/4406
?/? c.1438C>T r.(?) p.(Arg480Trp) g.39313115G>A Copied from the Exome Variant Server RFC1_000125 1/13006 0/8600 1/4406
?/? c.1464G>A r.(=) p.(=) g.39313089C>T Copied from the Exome Variant Server RFC1_000124 1/13006 1/8600 0/4406
?/? c.1467T>C r.(=) p.(=) g.39313086A>G Copied from the Exome Variant Server RFC1_000123 1/13006 1/8600 0/4406
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