All transcript variants in gene NLRP13

Information The variants shown are described using the NM_176810.2 transcript reference sequence.

224 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.-10G>A r.(=) p.(=) g.56443687C>T Copied from the Exome Variant Server NLRP13_000224 1/13006 1/8600 0/4406
?/? c.15A>G r.(=) p.(=) g.56443663T>C Copied from the Exome Variant Server NLRP13_000223 28/13006 0/8600 28/4406
?/? c.17T>C r.(?) p.(Ile6Thr) g.56443661A>G Copied from the Exome Variant Server NLRP13_000222 1/13006 1/8600 0/4406
?/? c.18C>T r.(=) p.(=) g.56443660G>A Copied from the Exome Variant Server NLRP13_000221 1/13006 0/8600 1/4406
?/? c.50T>C r.(?) p.(Leu17Pro) g.56443628A>G Copied from the Exome Variant Server NLRP13_000220 1/13006 1/8600 0/4406
?/? c.70C>T r.(=) p.(=) g.56443608G>A Copied from the Exome Variant Server NLRP13_000219 1/13006 1/8600 0/4406
?/? c.77A>G r.(?) p.(Gln26Arg) g.56443601T>C Copied from the Exome Variant Server NLRP13_000218 2/13006 0/8600 2/4406
?/? c.137C>T r.(?) p.(Ser46Leu) g.56443541G>A Copied from the Exome Variant Server NLRP13_000217 1/13006 1/8600 0/4406
?/? c.145C>G r.(?) p.(Gln49Glu) g.56443533G>C Copied from the Exome Variant Server NLRP13_000216 1/13006 0/8600 1/4406
?/? c.158C>T r.(?) p.(Pro53Leu) g.56443520G>A Copied from the Exome Variant Server NLRP13_000215 2/13006 0/8600 2/4406
?/? c.159G>A r.(=) p.(=) g.56443519C>T Copied from the Exome Variant Server NLRP13_000214 469/13006 78/8600 391/4406
?/? c.183A>G r.(=) p.(=) g.56443495T>C Copied from the Exome Variant Server NLRP13_000213 3/13006 0/8600 3/4406
?/? c.210T>C r.(=) p.(=) g.56443468A>G Copied from the Exome Variant Server NLRP13_000212 22/13006 0/8600 22/4406
?/? c.211C>A r.(?) p.(Leu71Ile) g.56443467G>T Copied from the Exome Variant Server NLRP13_000211 1/13006 1/8600 0/4406
?/? c.224A>G r.(?) p.(His75Arg) g.56443454T>C Copied from the Exome Variant Server NLRP13_000210 1/13006 1/8600 0/4406
?/? c.229C>T r.(?) p.(Pro77Ser) g.56443449G>A Copied from the Exome Variant Server NLRP13_000209 1/13006 1/8600 0/4406
?/? c.284C>T r.(?) p.(Thr95Ile) g.56443394G>A Copied from the Exome Variant Server NLRP13_000208 1/13006 1/8600 0/4406
?/? c.309C>G r.(=) p.(=) g.56443369G>C Copied from the Exome Variant Server NLRP13_000207 20/13006 0/8600 20/4406
?/? c.310G>A r.(?) p.(Glu104Lys) g.56443368C>T Copied from the Exome Variant Server NLRP13_000206 23/13006 1/8600 22/4406
?/? c.319+24C>T r.(=) p.(=) g.56443335G>A Copied from the Exome Variant Server NLRP13_000205 1/13006 1/8600 0/4406
?/? c.319+27_319+28insG r.(=) p.(=) g.56443331_56443332insC Copied from the Exome Variant Server NLRP13_000204 4/12512 3/8250 1/4262
?/? c.319+45C>T r.(=) p.(=) g.56443314G>A Copied from the Exome Variant Server NLRP13_000203 4/12996 0/8594 4/4402
?/? c.320-50C>A r.(=) p.(=) g.56436451G>T Copied from the Exome Variant Server NLRP13_000202 1/13006 1/8600 0/4406
?/? c.320-37G>A r.(=) p.(=) g.56436438C>T Copied from the Exome Variant Server NLRP13_000201 8/13006 0/8600 8/4406
?/? c.320-7G>C r.(=) p.(=) g.56436408C>G Copied from the Exome Variant Server NLRP13_000200 1/13006 1/8600 0/4406
?/? c.324T>C r.(=) p.(=) g.56436397A>G Copied from the Exome Variant Server NLRP13_000199 1/13006 1/8600 0/4406
?/? c.353C>T r.(?) p.(Thr118Ile) g.56436368G>A Copied from the Exome Variant Server NLRP13_000198 1/13006 0/8600 1/4406
?/? c.354C>T r.(=) p.(=) g.56436367G>A Copied from the Exome Variant Server NLRP13_000197 15/13006 14/8600 1/4406
?/? c.381A>G r.(=) p.(=) g.56436340T>C Copied from the Exome Variant Server NLRP13_000196 1/13006 0/8600 1/4406
?/? c.388+29G>T r.(=) p.(=) g.56436304C>A Copied from the Exome Variant Server NLRP13_000195 2/13006 0/8600 2/4406
?/? c.388+47G>A r.(=) p.(=) g.56436286C>T Copied from the Exome Variant Server NLRP13_000194 59/13006 0/8600 59/4406
?/? c.389-65C>T r.(=) p.(=) g.56436089G>A Copied from the Exome Variant Server NLRP13_000193 3/4566 2/3182 1/1384
?/? c.389-63A>G r.(=) p.(=) g.56436087T>C Copied from the Exome Variant Server NLRP13_000192 1/4566 0/3182 1/1384
?/? c.389-39T>C r.(=) p.(=) g.56436063A>G Copied from the Exome Variant Server NLRP13_000191 3/13006 0/8600 3/4406
?/? c.389-35G>A r.(=) p.(=) g.56436059C>T Copied from the Exome Variant Server NLRP13_000190 524/13006 9/8600 515/4406
?/? c.439G>A r.(?) p.(Glu147Lys) g.56435974C>T Copied from the Exome Variant Server NLRP13_000189 66/13006 2/8600 64/4406
?/? c.442C>A r.(?) p.(Leu148Ile) g.56435971G>T Copied from the Exome Variant Server NLRP13_000188 1/13006 1/8600 0/4406
?/? c.450A>G r.(=) p.(=) g.56435963T>C Copied from the Exome Variant Server NLRP13_000187 3/13006 1/8600 2/4406
?/? c.457+15T>C r.(=) p.(=) g.56435941A>G Copied from the Exome Variant Server NLRP13_000186 8/13006 0/8600 8/4406
?/? c.457+19T>C r.(=) p.(=) g.56435937A>G Copied from the Exome Variant Server NLRP13_000185 747/13006 9/8600 738/4406
?/? c.457+25T>C r.(=) p.(=) g.56435931A>G Copied from the Exome Variant Server NLRP13_000184 1/13006 1/8600 0/4406
?/? c.457+37T>C r.(=) p.(=) g.56435919A>G Copied from the Exome Variant Server NLRP13_000183 1/13006 1/8600 0/4406
?/? c.458-58T>C r.(=) p.(=) g.56435403A>G Copied from the Exome Variant Server NLRP13_000182 9/4566 9/3182 0/1384
?/? c.458-43A>T r.(=) p.(=) g.56435388T>A Copied from the Exome Variant Server NLRP13_000181 1/13006 1/8600 0/4406
?/? c.460A>C r.(?) p.(Asn154His) g.56435343T>G Copied from the Exome Variant Server NLRP13_000180 1/13006 1/8600 0/4406
?/? c.484G>C r.(?) p.(Asp162His) g.56435319C>G Copied from the Exome Variant Server NLRP13_000179 1/13006 0/8600 1/4406
?/? c.496G>A r.(?) p.(Glu166Lys) g.56435307C>T Copied from the Exome Variant Server NLRP13_000178 24/13006 0/8600 24/4406
?/? c.523+43C>T r.(=) p.(=) g.56435237G>A Copied from the Exome Variant Server NLRP13_000177 1/13006 1/8600 0/4406
?/? c.523+46G>A r.(=) p.(=) g.56435234C>T Copied from the Exome Variant Server NLRP13_000176 37/13006 1/8600 36/4406
?/? c.524-34C>T r.(=) p.(=) g.56424693G>A Copied from the Exome Variant Server NLRP13_000175 1/12230 1/8294 0/3936
?/? c.524-30C>A r.(=) p.(=) g.56424689G>T Copied from the Exome Variant Server NLRP13_000174 1097/12306 703/8318 394/3988
?/? c.524-20C>A r.(=) p.(=) g.56424679G>T Copied from the Exome Variant Server NLRP13_000173 25/12468 23/8390 2/4078
?/? c.524-17C>G r.(=) p.(=) g.56424676G>C Copied from the Exome Variant Server NLRP13_000172 3/12484 3/8398 0/4086
?/? c.524-12C>T r.(=) p.(=) g.56424671G>A Copied from the Exome Variant Server NLRP13_000171 1/12530 1/8418 0/4112
?/? c.524-11G>A r.(=) p.(=) g.56424670C>T Copied from the Exome Variant Server NLRP13_000170 24/12586 1/8434 23/4152
?/? c.524-6C>G r.(=) p.(=) g.56424665G>C Copied from the Exome Variant Server NLRP13_000169 1/12640 1/8460 0/4180
?/? c.533G>C r.(?) p.(Arg178Thr) g.56424650C>G Copied from the Exome Variant Server NLRP13_000168 1/12818 1/8528 0/4290
?/? c.548A>C r.(?) p.(Asn183Thr) g.56424635T>G Copied from the Exome Variant Server NLRP13_000167 1/12958 1/8570 0/4388
?/? c.598G>A r.(?) p.(Asp200Asn) g.56424585C>T Copied from the Exome Variant Server NLRP13_000166 8/13006 0/8600 8/4406
?/? c.612C>T r.(=) p.(=) g.56424571G>A Copied from the Exome Variant Server NLRP13_000165 4/13006 0/8600 4/4406
?/? c.614G>A r.(?) p.(Arg205His) g.56424569C>T Copied from the Exome Variant Server NLRP13_000164 118/13006 7/8600 111/4406
?/? c.650G>A r.(?) p.(Arg217His) g.56424533C>T Copied from the Exome Variant Server NLRP13_000163 3/13006 1/8600 2/4406
?/? c.651C>T r.(=) p.(=) g.56424532G>A Copied from the Exome Variant Server NLRP13_000162 1389/13006 1271/8600 118/4406
?/? c.652C>T r.(=) p.(=) g.56424531G>A Copied from the Exome Variant Server NLRP13_000161 5/13006 1/8600 4/4406
?/? c.655C>T r.(=) p.(=) g.56424528G>A Copied from the Exome Variant Server NLRP13_000160 1/13006 0/8600 1/4406
?/? c.663T>A r.(=) p.(=) g.56424520A>T Copied from the Exome Variant Server NLRP13_000159 1/13006 1/8600 0/4406
?/? c.716T>C r.(?) p.(Val239Ala) g.56424467A>G Copied from the Exome Variant Server NLRP13_000158 6/13006 0/8600 6/4406
?/? c.740A>G r.(?) p.(Gln247Arg) g.56424443T>C Copied from the Exome Variant Server NLRP13_000157 8386/13006 5241/8600 3145/4406
?/? c.745A>G r.(?) p.(Met249Val) g.56424438T>C Copied from the Exome Variant Server NLRP13_000156 1/13006 1/8600 0/4406
?/? c.767T>C r.(?) p.(Val256Ala) g.56424416A>G Copied from the Exome Variant Server NLRP13_000155 1/13006 1/8600 0/4406
?/? c.788C>T r.(?) p.(Ser263Phe) g.56424395G>A Copied from the Exome Variant Server NLRP13_000154 8/13006 8/8600 0/4406
?/? c.800A>G r.(?) p.(Tyr267Cys) g.56424383T>C Copied from the Exome Variant Server NLRP13_000153 3/13006 0/8600 3/4406
?/? c.801T>C r.(=) p.(=) g.56424382A>G Copied from the Exome Variant Server NLRP13_000152 21/13006 0/8600 21/4406
?/? c.827T>C r.(?) p.(Met276Thr) g.56424356A>G Copied from the Exome Variant Server NLRP13_000151 1/13006 0/8600 1/4406
?/? c.860T>G r.(?) p.(Leu287Trp) g.56424323A>C Copied from the Exome Variant Server NLRP13_000150 8/13006 6/8600 2/4406
?/? c.870C>T r.(=) p.(=) g.56424313G>A Copied from the Exome Variant Server NLRP13_000149 1/13006 1/8600 0/4406
?/? c.873T>A r.(?) p.(Asp291Glu) g.56424310A>T Copied from the Exome Variant Server NLRP13_000148 2/13006 0/8600 2/4406
?/? c.878A>G r.(?) p.(Asp293Gly) g.56424305T>C Copied from the Exome Variant Server NLRP13_000147 17/13006 16/8600 1/4406
?/? c.964C>T r.(?) p.(Arg322Cys) g.56424219G>A Copied from the Exome Variant Server NLRP13_000146 1/13006 1/8600 0/4406
?/? c.975C>T r.(=) p.(=) g.56424208G>A Copied from the Exome Variant Server NLRP13_000145 4/13006 4/8600 0/4406
?/? c.990G>A r.(=) p.(=) g.56424193C>T Copied from the Exome Variant Server NLRP13_000144 162/13006 2/8600 160/4406
?/? c.1005G>C r.(?) p.(Trp335Cys) g.56424178C>G Copied from the Exome Variant Server NLRP13_000143 1/13006 1/8600 0/4406
?/? c.1038C>T r.(=) p.(=) g.56424145G>A Copied from the Exome Variant Server NLRP13_000142 3/13006 3/8600 0/4406
?/? c.1048A>G r.(?) p.(Lys350Glu) g.56424135T>C Copied from the Exome Variant Server NLRP13_000141 10/13006 10/8600 0/4406
?/? c.1102G>A r.(?) p.(Val368Met) g.56424081C>T Copied from the Exome Variant Server NLRP13_000140 1/13006 1/8600 0/4406
?/? c.1108G>A r.(?) p.(Asp370Asn) g.56424075C>T Copied from the Exome Variant Server NLRP13_000139 1/13006 0/8600 1/4406
?/? c.1153G>T r.(?) p.(Gly385Trp) g.56424030C>A Copied from the Exome Variant Server NLRP13_000138 1/13006 0/8600 1/4406
?/? c.1155G>T r.(=) p.(=) g.56424028C>A Copied from the Exome Variant Server NLRP13_000137 13/13006 0/8600 13/4406
?/? c.1160C>T r.(?) p.(Thr387Ile) g.56424023G>A Copied from the Exome Variant Server NLRP13_000136 1/13006 0/8600 1/4406
?/? c.1167C>G r.(?) p.(Asp389Glu) g.56424016G>C Copied from the Exome Variant Server NLRP13_000135 1/13006 0/8600 1/4406
?/? c.1175G>A r.(?) p.(Arg392Gln) g.56424008C>T Copied from the Exome Variant Server NLRP13_000134 15/13006 0/8600 15/4406
?/? c.1198G>A r.(?) p.(Asp400Asn) g.56423985C>T Copied from the Exome Variant Server NLRP13_000133 1/13006 1/8600 0/4406
?/? c.1212A>C r.(?) p.(Glu404Asp) g.56423971T>G Copied from the Exome Variant Server NLRP13_000132 1/13006 1/8600 0/4406
?/? c.1255_1258del r.(?) p.(Phe419Ilefs*16) g.56423925_56423928del Copied from the Exome Variant Server NLRP13_000131 140/12516 131/8254 9/4262
?/? c.1266C>A r.(?) p.(Cys422*) g.56423917G>T Copied from the Exome Variant Server NLRP13_000130 1/13006 0/8600 1/4406
?/? c.1272C>T r.(=) p.(=) g.56423911G>A Copied from the Exome Variant Server NLRP13_000129 1/13006 0/8600 1/4406
?/? c.1273C>A r.(?) p.(Pro425Thr) g.56423910G>T Copied from the Exome Variant Server NLRP13_000128 1/13006 0/8600 1/4406
?/? c.1290C>T r.(=) p.(=) g.56423893G>A Copied from the Exome Variant Server NLRP13_000127 8165/13006 5236/8600 2929/4406
?/? c.1313C>T r.(?) p.(Pro438Leu) g.56423870G>A Copied from the Exome Variant Server NLRP13_000126 2/13006 1/8600 1/4406
?/? c.1314G>A r.(=) p.(=) g.56423869C>T Copied from the Exome Variant Server NLRP13_000125 143/13006 123/8600 20/4406
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