Full data view for gene PARD3

Information The variants shown are described using the NM_019619.3 transcript reference sequence.

247 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.61A>G r.(?) p.(Met21Val) g.35103863T>C Copied from the Exome Variant Server PARD3_000247 1/12664 1/8378 0/4286 - - - - - - -
?/? c.149G>A r.(?) p.(Arg50His) g.34985319C>T Copied from the Exome Variant Server PARD3_000246 1/13006 0/8600 1/4406 - - - - - - -
?/? c.158A>G r.(?) p.(His53Arg) g.34985310T>C Copied from the Exome Variant Server PARD3_000245 1/13006 1/8600 0/4406 - - - - - - -
?/? c.201T>C r.(=) p.(=) g.34985267A>G Copied from the Exome Variant Server PARD3_000244 1/13006 1/8600 0/4406 - - - - - - -
?/? c.211G>A r.(?) p.(Asp71Asn) g.34985257C>T Copied from the Exome Variant Server PARD3_000243 1/13006 0/8600 1/4406 - - - - - - -
?/? c.222+8C>T r.(=) p.(=) g.34985238G>A Copied from the Exome Variant Server PARD3_000242 1/13006 1/8600 0/4406 - - - - - - -
?/? c.222+47_222+48insTT r.(=) p.(=) g.34985198_34985199insAA Copied from the Exome Variant Server PARD3_000241 428/12518 344/8254 84/4264 - - - - - - -
?/? c.222+48del r.(=) p.(=) g.34985198del Copied from the Exome Variant Server PARD3_000240 300/12518 131/8254 169/4264 - - - - - - -
?/? c.222+48dup r.(=) p.(=) g.34985198dup Copied from the Exome Variant Server PARD3_000239 6271/12518 4438/8254 1833/4264 - - - - - - -
?/? c.223-47A>G r.(=) p.(=) g.34806134T>C Copied from the Exome Variant Server PARD3_000238 2/13004 0/8600 2/4404 - - - - - - -
?/? c.243G>A r.(=) p.(=) g.34806067C>T Copied from the Exome Variant Server PARD3_000237 2/13006 2/8600 0/4406 - - - - - - -
?/? c.253C>A r.(?) p.(His85Asn) g.34806057G>T Copied from the Exome Variant Server PARD3_000235 1/13006 1/8600 0/4406 - - - - - - -
?/? c.258C>T r.(=) p.(=) g.34806052G>A Copied from the Exome Variant Server PARD3_000233 196/13006 2/8600 194/4406 - - - - - - -
?/? c.279C>A r.(=) p.(=) g.34806031G>T Copied from the Exome Variant Server PARD3_000231 7/13006 0/8600 7/4406 - - - - - - -
?/? c.288G>A r.(=) p.(=) g.34806022C>T Copied from the Exome Variant Server PARD3_000229 1/13006 1/8600 0/4406 - - - - - - -
?/? c.307A>C r.(?) p.(Ile103Leu) g.34806003T>G Copied from the Exome Variant Server PARD3_000227 1/13006 0/8600 1/4406 - - - - - - -
?/? c.321G>C r.(?) p.(Glu107Asp) g.34805989C>G Copied from the Exome Variant Server PARD3_000225 158/13006 4/8600 154/4406 - - - - - - -
?/? c.339C>G r.(=) p.(=) g.34805971G>C Copied from the Exome Variant Server PARD3_000223 16/13006 13/8600 3/4406 - - - - - - -
?/? c.398G>C r.(?) p.(Arg133Pro) g.34805912C>G Copied from the Exome Variant Server PARD3_000221 1/13006 0/8600 1/4406 - - - - - - -
?/? c.403+41_403+50del r.(=) p.(=) g.34805857_34805866del Copied from the Exome Variant Server PARD3_000219 2/12518 2/8254 0/4264 - - - - - - -
?/? c.404-43C>T r.(=) p.(=) g.34759234G>A Copied from the Exome Variant Server PARD3_000217 1/13006 1/8600 0/4406 - - - - - - -
?/? c.442C>G r.(?) p.(Leu148Val) g.34759153G>C Copied from the Exome Variant Server PARD3_000215 1/13006 0/8600 1/4406 - - - - - - -
?/? c.458C>T r.(?) p.(Thr153Ile) g.34759137G>A Copied from the Exome Variant Server PARD3_000213 1/13006 1/8600 0/4406 - - - - - - -
?/? c.557G>A r.(?) p.(Gly186Glu) g.34759038C>T Copied from the Exome Variant Server PARD3_000236 1/13006 1/8600 0/4406 - - - - - - -
?/? c.573C>T r.(=) p.(=) g.34759022G>A Copied from the Exome Variant Server PARD3_000234 1/13006 1/8600 0/4406 - - - - - - -
?/? c.582+26T>C r.(=) p.(=) g.34758987A>G Copied from the Exome Variant Server PARD3_000232 1/13006 0/8600 1/4406 - - - - - - -
?/? c.582+36C>G r.(=) p.(=) g.34758977G>C Copied from the Exome Variant Server PARD3_000230 56/13006 51/8600 5/4406 - - - - - - -
?/? c.607C>T r.(?) p.(Pro203Ser) g.34739352G>A Copied from the Exome Variant Server PARD3_000228 1/13006 1/8600 0/4406 - - - - - - -
?/? c.610C>T r.(?) p.(Arg204Trp) g.34739349G>A Copied from the Exome Variant Server PARD3_000226 1/13006 1/8600 0/4406 - - - - - - -
?/? c.611G>A r.(?) p.(Arg204Gln) g.34739348C>T Copied from the Exome Variant Server PARD3_000224 1/13006 0/8600 1/4406 - - - - - - -
?/? c.650A>G r.(?) p.(Asn217Ser) g.34739309T>C Copied from the Exome Variant Server PARD3_000222 2/13006 2/8600 0/4406 - - - - - - -
?/? c.705A>G r.(=) p.(=) g.34739254T>C Copied from the Exome Variant Server PARD3_000220 23/13006 6/8600 17/4406 - - - - - - -
?/? c.714+26C>T r.(=) p.(=) g.34739219G>A Copied from the Exome Variant Server PARD3_000218 143/13006 3/8600 140/4406 - - - - - - -
?/? c.714+44C>T r.(=) p.(=) g.34739201G>A Copied from the Exome Variant Server PARD3_000216 1/13006 1/8600 0/4406 - - - - - - -
?/? c.740A>G r.(?) p.(Asn247Ser) g.34690820T>C Copied from the Exome Variant Server PARD3_000214 1/13006 1/8600 0/4406 - - - - - - -
?/? c.773C>T r.(?) p.(Thr258Met) g.34690787G>A Copied from the Exome Variant Server PARD3_000212 1/13006 0/8600 1/4406 - - - - - - -
?/? c.776G>A r.(?) p.(Gly259Asp) g.34690784C>T Copied from the Exome Variant Server PARD3_000211 1/13006 1/8600 0/4406 - - - - - - -
?/? c.801T>C r.(=) p.(=) g.34690759A>G Copied from the Exome Variant Server PARD3_000210 2/13006 0/8600 2/4406 - - - - - - -
?/? c.806+44G>A r.(=) p.(=) g.34690710C>T Copied from the Exome Variant Server PARD3_000209 1/13006 0/8600 1/4406 - - - - - - -
?/? c.852G>A r.(=) p.(=) g.34688296C>T Copied from the Exome Variant Server PARD3_000208 1/13006 0/8600 1/4406 - - - - - - -
?/? c.861C>T N/A N/A g.34688287G>A Copied from the Exome Variant Server PARD3_000207 12986/13006 8581/8600 4405/4406 - - - - - - -
?/? c.875G>C r.(?) p.(Ser292Thr) g.34688273C>G Copied from the Exome Variant Server PARD3_000206 33/13006 31/8600 2/4406 - - - - - - -
?/? c.890+5C>T r.spl? p.? g.34688253G>A Copied from the Exome Variant Server PARD3_000205 1/13006 1/8600 0/4406 - - - - - - -
?/? c.890+8A>G r.(=) p.(=) g.34688250T>C Copied from the Exome Variant Server PARD3_000204 1/13006 0/8600 1/4406 - - - - - - -
?/? c.890+18T>C r.(=) p.(=) g.34688240A>G Copied from the Exome Variant Server PARD3_000203 2/13006 2/8600 0/4406 - - - - - - -
?/? c.891-49C>T r.(=) p.(=) g.34673231G>A Copied from the Exome Variant Server PARD3_000202 1/13006 0/8600 1/4406 - - - - - - -
?/? c.891-30G>C r.(=) p.(=) g.34673212C>G Copied from the Exome Variant Server PARD3_000200 1/13006 0/8600 1/4406 - - - - - - -
?/? c.990C>T r.(=) p.(=) g.34673083G>A Copied from the Exome Variant Server PARD3_000198 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1016+14C>T r.(=) p.(=) g.34673043G>A Copied from the Exome Variant Server PARD3_000201 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1017-40A>G r.(=) p.(=) g.34671890T>C Copied from the Exome Variant Server PARD3_000199 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1017-32T>C r.(=) p.(=) g.34671882A>G Copied from the Exome Variant Server PARD3_000197 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1017-7A>C r.(=) p.(=) g.34671857T>G Copied from the Exome Variant Server PARD3_000196 11/13006 10/8600 1/4406 - - - - - - -
?/? c.1017-4C>G r.spl? p.? g.34671854G>C Copied from the Exome Variant Server PARD3_000195 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1124A>G r.(?) p.(Asn375Ser) g.34671743T>C Copied from the Exome Variant Server PARD3_000194 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1129T>C r.(?) p.(Tyr377His) g.34671738A>G Copied from the Exome Variant Server PARD3_000193 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1132T>G r.(?) p.(Tyr378Asp) g.34671735A>C Copied from the Exome Variant Server PARD3_000192 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1133A>G r.(?) p.(Tyr378Cys) g.34671734T>C Copied from the Exome Variant Server PARD3_000191 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1141C>T r.(?) p.(Arg381Cys) g.34671726G>A Copied from the Exome Variant Server PARD3_000190 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1142G>A r.(?) p.(Arg381His) g.34671725C>T Copied from the Exome Variant Server PARD3_000189 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1202C>T r.(?) p.(Thr401Met) g.34671665G>A Copied from the Exome Variant Server PARD3_000188 21/13006 1/8600 20/4406 - - - - - - -
?/? c.1232C>T r.(?) p.(Pro411Leu) g.34671635G>A Copied from the Exome Variant Server PARD3_000187 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1241A>C r.(?) p.(Gln414Pro) g.34671626T>G Copied from the Exome Variant Server PARD3_000186 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1244T>C r.(?) p.(Ile415Thr) g.34671623A>G Copied from the Exome Variant Server PARD3_000185 15/13006 14/8600 1/4406 - - - - - - -
?/? c.1250C>T r.(?) p.(Ser417Phe) g.34671617G>A Copied from the Exome Variant Server PARD3_000184 22/13006 0/8600 22/4406 - - - - - - -
?/? c.1278C>T r.(=) p.(=) g.34671589G>A Copied from the Exome Variant Server PARD3_000183 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1283C>T r.(?) p.(Ser428Leu) g.34671584G>A Copied from the Exome Variant Server PARD3_000182 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1299C>T r.(=) p.(=) g.34671568G>A Copied from the Exome Variant Server PARD3_000181 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1326A>G r.(=) p.(=) g.34671541T>C Copied from the Exome Variant Server PARD3_000180 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1354A>G r.(?) p.(Asn452Asp) g.34671513T>C Copied from the Exome Variant Server PARD3_000179 17/13006 17/8600 0/4406 - - - - - - -
?/? c.1368A>G r.(?) p.(Ile456Met) g.34671499T>C Copied from the Exome Variant Server PARD3_000178 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1369G>A r.(?) p.(Gly457Ser) g.34671498C>T Copied from the Exome Variant Server PARD3_000177 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1399+13C>T r.(=) p.(=) g.34671455G>A Copied from the Exome Variant Server PARD3_000176 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1400-42A>G r.(=) p.(=) g.34667076T>C Copied from the Exome Variant Server PARD3_000175 5/13006 2/8600 3/4406 - - - - - - -
?/? c.1535T>C r.(?) p.(Ile512Thr) g.34666899A>G Copied from the Exome Variant Server PARD3_000174 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1539+31G>A r.(=) p.(=) g.34666864C>T Copied from the Exome Variant Server PARD3_000173 7777/13006 4062/8600 3715/4406 - - - - - - -
?/? c.1540-44T>A r.(=) p.(=) g.34663974A>T Copied from the Exome Variant Server PARD3_000172 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1540-42G>C r.(=) p.(=) g.34663972C>G Copied from the Exome Variant Server PARD3_000171 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1668+49G>A r.(=) p.(=) g.34663753C>T Copied from the Exome Variant Server PARD3_000170 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1669-22T>C r.(=) p.(=) g.34661486A>G Copied from the Exome Variant Server PARD3_000169 2/13004 0/8600 2/4404 - - - - - - -
?/? c.1692G>T r.(?) p.(Gln564His) g.34661441C>A Copied from the Exome Variant Server PARD3_000168 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1707+24A>T r.(=) p.(=) g.34661402T>A Copied from the Exome Variant Server PARD3_000167 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1708-32A>G r.(=) p.(=) g.34649219T>C Copied from the Exome Variant Server PARD3_000166 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1722G>A r.(=) p.(=) g.34649173C>T Copied from the Exome Variant Server PARD3_000165 4/13006 3/8600 1/4406 - - - - - - -
?/? c.1736C>T r.(?) p.(Thr579Ile) g.34649159G>A Copied from the Exome Variant Server PARD3_000164 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1749C>G r.(=) p.(=) g.34649146G>C Copied from the Exome Variant Server PARD3_000162 261/13006 242/8600 19/4406 - - - - - - -
?/? c.1761G>C r.(=) p.(=) g.34649134C>G Copied from the Exome Variant Server PARD3_000160 29/13006 0/8600 29/4406 - - - - - - -
?/? c.1826G>A r.(?) p.(Arg609Gln) g.34649069C>T Copied from the Exome Variant Server PARD3_000158 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1842C>T r.(=) p.(=) g.34649053G>A Copied from the Exome Variant Server PARD3_000156 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1896+11A>G r.(=) p.(=) g.34648988T>C Copied from the Exome Variant Server PARD3_000154 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1897-51T>G r.(=) p.(=) g.34648296A>C Copied from the Exome Variant Server PARD3_000152 3/13002 0/8598 3/4404 - - - - - - -
?/? c.1910G>A r.(?) p.(Arg637Gln) g.34648232C>T Copied from the Exome Variant Server PARD3_000150 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1966C>A r.(?) p.(Gln656Lys) g.34648176G>T Copied from the Exome Variant Server PARD3_000148 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2012A>G r.(?) p.(Asn671Ser) g.34648130T>C Copied from the Exome Variant Server PARD3_000146 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2054G>A r.(?) p.(Ser685Asn) g.34648088C>T Copied from the Exome Variant Server PARD3_000144 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2063A>G r.(?) p.(Asn688Ser) g.34648079T>C Copied from the Exome Variant Server PARD3_000142 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2067+5G>A r.spl? p.? g.34648070C>T Copied from the Exome Variant Server PARD3_000140 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2067+47A>G r.(=) p.(=) g.34648028T>C Copied from the Exome Variant Server PARD3_000138 1/13004 1/8600 0/4404 - - - - - - -
?/? c.2068-43C>T r.(=) p.(=) g.34637086G>A Copied from the Exome Variant Server PARD3_000137 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2068-28C>G r.(=) p.(=) g.34637071G>C Copied from the Exome Variant Server PARD3_000163 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2068-27T>C r.(=) p.(=) g.34637070A>G Copied from the Exome Variant Server PARD3_000161 1/13006 0/8600 1/4406 - - - - - - -
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