All transcript variants in gene RPGR

Information The variants shown are described using the NM_000328.2 transcript reference sequence.

225 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.-52C>A r.(=) p.(=) g.38186672G>T Copied from the Exome Variant Server RPGR_000224 185/5624 23/3373 162/2251
?/? c.-21G>A r.(=) p.(=) g.38186641C>T Copied from the Exome Variant Server RPGR_000223 1/9962 0/6369 1/3593
?/? c.28+12C>T r.(=) p.(=) g.38186581G>A Copied from the Exome Variant Server RPGR_000222 1/9579 1/6167 0/3412
?/? c.29-24A>G r.(=) p.(=) g.38182801T>C Copied from the Exome Variant Server RPGR_000221 2/10557 2/6724 0/3833
?/? c.29-15G>A r.(=) p.(=) g.38182792C>T Copied from the Exome Variant Server RPGR_000220 2222/10559 714/6726 1508/3833
?/? c.30T>A r.(?) p.(Asp10Glu) g.38182776A>T Copied from the Exome Variant Server RPGR_000219 4/10557 0/6727 4/3830
?/? c.32C>T r.(?) p.(Ser11Leu) g.38182774G>A Copied from the Exome Variant Server RPGR_000218 1/10559 1/6727 0/3832
?/? c.153C>T r.(=) p.(=) g.38182653G>A Copied from the Exome Variant Server RPGR_000217 1/10559 1/6726 0/3833
?/? c.154+11C>A r.(=) p.(=) g.38182641G>T Copied from the Exome Variant Server RPGR_000216 3/10559 2/6726 1/3833
?/? c.154+14T>C r.(=) p.(=) g.38182638A>G Copied from the Exome Variant Server RPGR_000215 7/10559 7/6726 0/3833
?/? c.155-30A>C r.(=) p.(=) g.38182228T>G Copied from the Exome Variant Server RPGR_000214 1/10561 0/6728 1/3833
?/? c.222C>T r.(=) p.(=) g.38182131G>A Copied from the Exome Variant Server RPGR_000213 6/10561 6/6728 0/3833
?/? c.223A>G r.(?) p.(Ile75Val) g.38182130T>C Copied from the Exome Variant Server RPGR_000212 404/10561 61/6728 343/3833
?/? c.247+37A>C r.(=) p.(=) g.38182069T>G Copied from the Exome Variant Server RPGR_000211 401/10561 56/6728 345/3833
?/? c.247+45_247+46insT r.(=) p.(=) g.38182060_38182061insA Copied from the Exome Variant Server RPGR_000210 1/10205 0/6484 1/3721
?/? c.310+10T>C r.(=) p.(=) g.38180270A>G Copied from the Exome Variant Server RPGR_000209 2/10560 2/6727 0/3833
?/? c.311-21C>T r.(=) p.(=) g.38178261G>A Copied from the Exome Variant Server RPGR_000208 33/10560 1/6727 32/3833
?/? c.414C>T r.(=) p.(=) g.38178137G>A Copied from the Exome Variant Server RPGR_000207 1/10561 0/6728 1/3833
?/? c.421A>G r.(?) p.(Lys141Glu) g.38178130T>C Copied from the Exome Variant Server RPGR_000206 1/10561 0/6728 1/3833
?/? c.469+23T>C r.(=) p.(=) g.38178059A>G Copied from the Exome Variant Server RPGR_000205 1/10561 0/6728 1/3833
?/? c.469+26G>A r.(=) p.(=) g.38178056C>T Copied from the Exome Variant Server RPGR_000204 17/10561 0/6728 17/3833
?/? c.469+29A>G r.(=) p.(=) g.38178053T>C Copied from the Exome Variant Server RPGR_000203 1/10561 0/6728 1/3833
?/? c.469+36C>T r.(=) p.(=) g.38178046G>A Copied from the Exome Variant Server RPGR_000202 1/10561 1/6728 0/3833
?/? c.470-26del r.(=) p.(=) g.38176744del Copied from the Exome Variant Server RPGR_000201 6/10186 2/6474 4/3712
?/? c.505G>A r.(?) p.(Glu169Lys) g.38176683C>T Copied from the Exome Variant Server RPGR_000200 1/10561 0/6728 1/3833
?/? c.552G>T r.(?) p.(Gln184His) g.38176636C>A Copied from the Exome Variant Server RPGR_000199 280/10561 0/6728 280/3833
?/? c.585C>A r.(=) p.(=) g.38176603G>T Copied from the Exome Variant Server RPGR_000198 1/10561 0/6728 1/3833
?/? c.609T>C r.(=) p.(=) g.38176579A>G Copied from the Exome Variant Server RPGR_000197 1/10561 1/6728 0/3833
?/? c.619+18G>A r.(=) p.(=) g.38176551C>T Copied from the Exome Variant Server RPGR_000196 1/10561 1/6728 0/3833
?/? c.619+34C>T r.(=) p.(=) g.38176535G>A Copied from the Exome Variant Server RPGR_000195 1/10561 1/6728 0/3833
?/? c.619+35C>T r.(=) p.(=) g.38176534G>A Copied from the Exome Variant Server RPGR_000194 1/10561 0/6728 1/3833
?/? c.620-41T>C r.(=) p.(=) g.38170067A>G Copied from the Exome Variant Server RPGR_000193 399/10560 55/6727 344/3833
?/? c.620-17T>C r.(=) p.(=) g.38170043A>G Copied from the Exome Variant Server RPGR_000192 1/10561 0/6728 1/3833
?/? c.620-2A>G r.spl? p.? g.38170028T>C Copied from the Exome Variant Server RPGR_000191 1/10561 0/6728 1/3833
?/? c.673C>T r.(?) p.(Pro225Ser) g.38169973G>A Copied from the Exome Variant Server RPGR_000190 1/10561 1/6728 0/3833
?/? c.690C>A r.(=) p.(=) g.38169956G>T Copied from the Exome Variant Server RPGR_000189 1/10561 1/6728 0/3833
?/? c.732G>A r.(=) p.(=) g.38169914C>T Copied from the Exome Variant Server RPGR_000188 22/10561 18/6728 4/3833
?/? c.778+13T>A r.(=) p.(=) g.38169855A>T Copied from the Exome Variant Server RPGR_000187 61/10561 59/6728 2/3833
?/? c.778+16A>G r.(=) p.(=) g.38169852T>C Copied from the Exome Variant Server RPGR_000186 1/10561 1/6728 0/3833
?/? c.778+33G>A r.(=) p.(=) g.38169835C>T Copied from the Exome Variant Server RPGR_000185 3/10561 2/6728 1/3833
?/? c.779-29T>G r.(=) p.(=) g.38164072A>C Copied from the Exome Variant Server RPGR_000184 2/10561 0/6728 2/3833
?/? c.785C>G r.(?) p.(Ala262Gly) g.38164037G>C Copied from the Exome Variant Server RPGR_000183 2/10561 2/6728 0/3833
?/? c.865A>G r.(?) p.(Ile289Val) g.38163957T>C Copied from the Exome Variant Server RPGR_000182 1/10561 1/6728 0/3833
?/? c.905G>C r.(?) p.(Cys302Ser) g.38163917C>G Copied from the Exome Variant Server RPGR_000180 46/10559 0/6728 46/3831
?/? c.935-30A>G r.(=) p.(=) g.38160654T>C Copied from the Exome Variant Server RPGR_000225 23/10558 0/6725 23/3833
?/? c.939C>T r.(=) p.(=) g.38160620G>A Copied from the Exome Variant Server RPGR_000178 1/10560 0/6727 1/3833
?/? c.1033A>G r.(?) p.(Asn345Asp) g.38160526T>C Copied from the Exome Variant Server RPGR_000176 85/10559 73/6726 12/3833
?/? c.1041G>C r.(?) p.(Leu347Phe) g.38160518C>G Copied from the Exome Variant Server RPGR_000174 1/10559 1/6726 0/3833
?/? c.1059+6G>A r.(=) p.(=) g.38160494C>T Copied from the Exome Variant Server RPGR_000172 4/10559 3/6726 1/3833
?/? c.1059+25T>C r.(=) p.(=) g.38160475A>G Copied from the Exome Variant Server RPGR_000170 169/10551 142/6721 27/3830
?/? c.1060-34T>C r.(=) p.(=) g.38158428A>G Copied from the Exome Variant Server RPGR_000168 1/10561 1/6728 0/3833
?/? c.1060-26A>G r.(=) p.(=) g.38158420T>C Copied from the Exome Variant Server RPGR_000166 2/10561 2/6728 0/3833
?/? c.1081A>G r.(?) p.(Met361Val) g.38158373T>C Copied from the Exome Variant Server RPGR_000181 1/10561 1/6728 0/3833
?/? c.1098T>C r.(=) p.(=) g.38158356A>G Copied from the Exome Variant Server RPGR_000179 1/10561 1/6728 0/3833
?/? c.1100_1102del r.(?) p.(Pro367del) g.38158352_38158354del Copied from the Exome Variant Server RPGR_000177 1/10205 0/6484 1/3721
?/? c.1160T>C r.(?) p.(Val387Ala) g.38158294A>G Copied from the Exome Variant Server RPGR_000175 1/10561 0/6728 1/3833
?/? c.1163C>T r.(?) p.(Ala388Val) g.38158291G>A Copied from the Exome Variant Server RPGR_000173 1/10561 1/6728 0/3833
?/? c.1164G>A r.(=) p.(=) g.38158290C>T Copied from the Exome Variant Server RPGR_000171 1304/10561 1041/6728 263/3833
?/? c.1175C>T r.(?) p.(Pro392Leu) g.38158279G>A Copied from the Exome Variant Server RPGR_000169 2/10561 2/6728 0/3833
?/? c.1176G>C r.(=) p.(=) g.38158278C>G Copied from the Exome Variant Server RPGR_000167 5/10561 4/6728 1/3833
?/? c.1204C>T r.(=) p.(=) g.38158250G>A Copied from the Exome Variant Server RPGR_000165 1/10561 0/6728 1/3833
?/? c.1232G>A r.(?) p.(Arg411Gln) g.38158222C>T Copied from the Exome Variant Server RPGR_000164 1/10561 1/6728 0/3833
?/? c.1240G>C r.(?) p.(Glu414Gln) g.38158214C>G Copied from the Exome Variant Server RPGR_000163 4/10561 1/6728 3/3833
?/? c.1244G>T r.(?) p.(Arg415Met) g.38158210C>A Copied from the Exome Variant Server RPGR_000162 1/10561 0/6728 1/3833
?/? c.1245+16A>G r.(=) p.(=) g.38158193T>C Copied from the Exome Variant Server RPGR_000161 1578/10561 1231/6728 347/3833
?/? c.1274G>A r.(?) p.(Arg425Lys) g.38156677C>T Copied from the Exome Variant Server RPGR_000160 935/10561 344/6728 591/3833
?/? c.1291A>G r.(?) p.(Ile431Val) g.38156660T>C Copied from the Exome Variant Server RPGR_000159 578/10561 144/6728 434/3833
?/? c.1296A>T r.(?) p.(Glu432Asp) g.38156655T>A Copied from the Exome Variant Server RPGR_000158 109/10561 0/6728 109/3833
?/? c.1367A>G r.(?) p.(Gln456Arg) g.38156584T>C Copied from the Exome Variant Server RPGR_000157 79/10561 71/6728 8/3833
?/? c.1371G>C r.(?) p.(Glu457Asp) g.38156580C>G Copied from the Exome Variant Server RPGR_000156 2/10561 0/6728 2/3833
?/? c.1414+5C>T r.spl? p.? g.38156532G>A Copied from the Exome Variant Server RPGR_000154 4/10561 0/6728 4/3833
?/? c.1414+9T>C r.(=) p.(=) g.38156528A>G Copied from the Exome Variant Server RPGR_000152 2/10561 2/6728 0/3833
?/? c.1414+18G>C r.(=) p.(=) g.38156519C>G Copied from the Exome Variant Server RPGR_000150 1/10561 0/6728 1/3833
?/? c.1414+32T>A r.(=) p.(=) g.38156505A>T Copied from the Exome Variant Server RPGR_000148 3/10561 0/6728 3/3833
?/? c.1443A>C r.(?) p.(Glu481Asp) g.38150709T>G Copied from the Exome Variant Server RPGR_000146 2/10542 0/6713 2/3829
?/? c.1466C>T r.(?) p.(Thr489Ile) g.38150686G>A Copied from the Exome Variant Server RPGR_000144 1/10547 0/6718 1/3829
?/? c.1500A>C r.(?) p.(Leu500Phe) g.38150652T>G Copied from the Exome Variant Server RPGR_000142 1/10546 1/6717 0/3829
?/? c.1506+20_1506+23del r.(=) p.(=) g.38150623_38150626del Copied from the Exome Variant Server RPGR_000155 22/10173 10/6456 12/3717
?/? c.1506+30A>G r.(=) p.(=) g.38150616T>C Copied from the Exome Variant Server RPGR_000153 1/10537 0/6708 1/3829
?/? c.1507-18A>G r.(=) p.(=) g.38150295T>C Copied from the Exome Variant Server RPGR_000151 2/9793 0/6372 2/3421
?/? c.1508C>G r.(?) p.(Thr503Arg) g.38150276G>C Copied from the Exome Variant Server RPGR_000149 1/10531 1/6700 0/3831
?/? c.1572+11A>G r.(=) p.(=) g.38150201T>C Copied from the Exome Variant Server RPGR_000147 933/10548 343/6717 590/3831
?/? c.1572+18A>G r.(=) p.(=) g.38150194T>C Copied from the Exome Variant Server RPGR_000145 1/10548 1/6717 0/3831
?/? c.1572+23C>T r.(=) p.(=) g.38150189G>A Copied from the Exome Variant Server RPGR_000143 1/10546 0/6715 1/3831
?/? c.1573-45C>T r.(=) p.(=) g.38147339G>A Copied from the Exome Variant Server RPGR_000141 2/10559 2/6726 0/3833
?/? c.1579_1581del r.(?) p.(Gln527del) g.38147286_38147288del Copied from the Exome Variant Server RPGR_000140 199/10204 191/6483 8/3721
?/? c.1590G>A r.(=) p.(=) g.38147277C>T Copied from the Exome Variant Server RPGR_000139 1/10561 1/6728 0/3833
?/? c.1598C>T r.(?) p.(Thr533Met) g.38147269G>A Copied from the Exome Variant Server RPGR_000138 210/10561 197/6728 13/3833
?/? c.1599G>A r.(=) p.(=) g.38147268C>T Copied from the Exome Variant Server RPGR_000137 1/10561 0/6728 1/3833
?/? c.1608A>T r.(=) p.(=) g.38147259T>A Copied from the Exome Variant Server RPGR_000136 2/10561 2/6728 0/3833
?/? c.1697G>A r.(?) p.(Gly566Glu) g.38147170C>T Copied from the Exome Variant Server RPGR_000135 956/10561 342/6728 614/3833
?/? c.1709C>T r.(?) p.(Thr570Met) g.38147158G>A Copied from the Exome Variant Server RPGR_000134 1/10561 1/6728 0/3833
?/? c.1710G>A r.(=) p.(=) g.38147157C>T Copied from the Exome Variant Server RPGR_000133 2/10561 1/6728 1/3833
?/? c.1721C>T r.(?) p.(Thr574Met) g.38147146G>A Copied from the Exome Variant Server RPGR_000132 5/10561 0/6728 5/3833
?/? c.1722G>A r.(=) p.(=) g.38147145C>T Copied from the Exome Variant Server RPGR_000131 1/10561 0/6728 1/3833
?/? c.1728C>T r.(=) p.(=) g.38147139G>A Copied from the Exome Variant Server RPGR_000130 1/10561 1/6728 0/3833
?/? c.1754-10C>G r.(=) p.(=) g.38146508G>C Copied from the Exome Variant Server RPGR_000129 6/10553 6/6720 0/3833
?/? c.1847A>G r.(?) p.(His616Arg) g.38146405T>C Copied from the Exome Variant Server RPGR_000128 1/10561 1/6728 0/3833
?/? c.1868C>T r.(?) p.(Thr623Ile) g.38146384G>A Copied from the Exome Variant Server RPGR_000127 1/10561 1/6728 0/3833
?/? c.1905+16G>T r.(=) p.(=) g.38146331C>A Copied from the Exome Variant Server RPGR_000126 2/10561 0/6728 2/3833
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