All transcript variants in gene CAPN13

Information The variants shown are described using the NM_144575.2 transcript reference sequence.

219 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.-32-4A>G r.spl? p.? g.31010227T>C Copied from the Exome Variant Server CAPN13_000219 9/12166 0/8310 9/3856
?/? c.-25C>A r.(=) p.(=) g.31010216G>T Copied from the Exome Variant Server CAPN13_000218 1/12194 0/8308 1/3886
?/? c.-22C>T r.(=) p.(=) g.31010213G>A Copied from the Exome Variant Server CAPN13_000217 4/12184 4/8302 0/3882
?/? c.-21G>A r.(=) p.(=) g.31010212C>T Copied from the Exome Variant Server CAPN13_000216 1693/12190 1219/8298 474/3892
?/? c.-12C>T r.(=) p.(=) g.31010203G>A Copied from the Exome Variant Server CAPN13_000215 62/12222 59/8310 3/3912
?/? c.5C>T r.(?) p.(Ala2Val) g.31010187G>A Copied from the Exome Variant Server CAPN13_000214 4/12280 0/8314 4/3966
?/? c.6G>A r.(=) p.(=) g.31010186C>T Copied from the Exome Variant Server CAPN13_000213 2/12276 0/8310 2/3966
?/? c.18G>A r.(=) p.(=) g.31010174C>T Copied from the Exome Variant Server CAPN13_000212 9/12270 0/8308 9/3962
?/? c.37A>G r.(?) p.(Ile13Val) g.31010155T>C Copied from the Exome Variant Server CAPN13_000211 1/12292 1/8312 0/3980
?/? c.60C>A r.(?) p.(Asp20Glu) g.31010132G>T Copied from the Exome Variant Server CAPN13_000210 10/12318 10/8330 0/3988
?/? c.66C>G r.(=) p.(=) g.31010126G>C Copied from the Exome Variant Server CAPN13_000209 1/12322 0/8334 1/3988
?/? c.70T>C r.(=) p.(=) g.31010122A>G Copied from the Exome Variant Server CAPN13_000208 4/12294 3/8324 1/3970
?/? c.74G>A r.(?) p.(Arg25Gln) g.31010118C>T Copied from the Exome Variant Server CAPN13_000207 1/12296 1/8328 0/3968
?/? c.75G>C r.(=) p.(=) g.31010117C>G Copied from the Exome Variant Server CAPN13_000206 1/12300 0/8332 1/3968
?/? c.78T>C r.(=) p.(=) g.31010114A>G Copied from the Exome Variant Server CAPN13_000205 1/12306 1/8326 0/3980
?/? c.84C>T r.(=) p.(=) g.31010108G>A Copied from the Exome Variant Server CAPN13_000204 1/12286 1/8322 0/3964
?/? c.98G>A r.(?) p.(Arg33Gln) g.31010094C>T Copied from the Exome Variant Server CAPN13_000203 2/12278 1/8320 1/3958
?/? c.101C>T r.(?) p.(Thr34Met) g.31010091G>A Copied from the Exome Variant Server CAPN13_000202 5/12280 0/8318 5/3962
?/? c.140T>C r.(?) p.(Ile47Thr) g.31010052A>G Copied from the Exome Variant Server CAPN13_000201 1/12198 0/8304 1/3894
?/? c.165_166insA r.(?) p.(Arg56Thrfs*24) g.31010026_31010027insT Copied from the Exome Variant Server CAPN13_000200 3/11678 1/7938 2/3740
?/? c.166C>T r.(?) p.(Arg56Cys) g.31010026G>A Copied from the Exome Variant Server CAPN13_000199 1/12220 0/8304 1/3916
?/? c.167G>A r.(?) p.(Arg56His) g.31010025C>T Copied from the Exome Variant Server CAPN13_000198 7/12212 7/8304 0/3908
?/? c.186G>T r.(?) p.(Trp62Cys) g.31010006C>A Copied from the Exome Variant Server CAPN13_000197 1/12184 0/8278 1/3906
?/? c.191G>A r.(?) p.(Arg64Gln) g.31010001C>T Copied from the Exome Variant Server CAPN13_000196 1/12202 0/8280 1/3922
?/? c.194C>T r.(?) p.(Pro65Leu) g.31009998G>A Copied from the Exome Variant Server CAPN13_000195 1/12208 1/8280 0/3928
?/? c.198+7G>A r.(=) p.(=) g.31009987C>T Copied from the Exome Variant Server CAPN13_000194 3/12180 0/8248 3/3932
?/? c.198+17C>G r.(=) p.(=) g.31009977G>C Copied from the Exome Variant Server CAPN13_000193 10556/12134 6938/8216 3618/3918
?/? c.198+48C>T r.(=) p.(=) g.31009946G>A Copied from the Exome Variant Server CAPN13_000192 31/11756 29/7988 2/3768
?/? c.199-57G>A r.(=) p.(=) g.31000562C>T Copied from the Exome Variant Server CAPN13_000191 68/4566 2/3182 66/1384
?/? c.199-35del r.(=) p.(=) g.31000540del Copied from the Exome Variant Server CAPN13_000190 28/11474 2/7836 26/3638
?/? c.199-12T>C r.(=) p.(=) g.31000517A>G Copied from the Exome Variant Server CAPN13_000189 1/11950 1/8194 0/3756
?/? c.224T>C r.(?) p.(Phe75Ser) g.31000480A>G Copied from the Exome Variant Server CAPN13_000188 1/12036 1/8224 0/3812
?/? c.267C>T r.(=) p.(=) g.31000437G>A Copied from the Exome Variant Server CAPN13_000187 41/12194 0/8272 41/3922
?/? c.271+8T>G r.(=) p.(=) g.31000425A>C Copied from the Exome Variant Server CAPN13_000186 1/12254 0/8312 1/3942
?/? c.271+25G>A r.(=) p.(=) g.31000408C>T Copied from the Exome Variant Server CAPN13_000185 11/12254 0/8322 11/3932
?/? c.271+46G>A r.(=) p.(=) g.31000387C>T Copied from the Exome Variant Server CAPN13_000184 1/12268 0/8302 1/3966
?/? c.271+63C>G r.(=) p.(=) g.31000370G>C Copied from the Exome Variant Server CAPN13_000183 933/4566 625/3182 308/1384
?/? c.272-47T>A r.(=) p.(=) g.30998958A>T Copied from the Exome Variant Server CAPN13_000182 1/12132 1/8268 0/3864
?/? c.285C>T r.(=) p.(=) g.30998898G>A Copied from the Exome Variant Server CAPN13_000181 3/12312 3/8342 0/3970
?/? c.379C>T r.(?) p.(Arg127Cys) g.30998804G>A Copied from the Exome Variant Server CAPN13_000180 1/12208 1/8296 0/3912
?/? c.387+1G>A r.spl? p.? g.30998795C>T Copied from the Exome Variant Server CAPN13_000178 1/12222 1/8306 0/3916
?/? c.387+4C>T r.spl? p.? g.30998792G>A Copied from the Exome Variant Server CAPN13_000176 1/12222 1/8302 0/3920
?/? c.387+5G>A r.spl? p.? g.30998791C>T Copied from the Exome Variant Server CAPN13_000174 1/12228 1/8306 0/3922
?/? c.387+20G>A r.(=) p.(=) g.30998776C>T Copied from the Exome Variant Server CAPN13_000172 145/12152 0/8272 145/3880
?/? c.387+21C>T r.(=) p.(=) g.30998775G>A Copied from the Exome Variant Server CAPN13_000170 5/12152 0/8272 5/3880
?/? c.387+26_387+33del r.(=) p.(=) g.30998763_30998770del Copied from the Exome Variant Server CAPN13_000168 1/11598 1/7914 0/3684
?/? c.388-30T>C r.(=) p.(=) g.30993345A>G Copied from the Exome Variant Server CAPN13_000179 6/12300 6/8340 0/3960
?/? c.388-25A>T r.(=) p.(=) g.30993340T>A Copied from the Exome Variant Server CAPN13_000177 1/12322 0/8350 1/3972
?/? c.388-23G>A r.(=) p.(=) g.30993338C>T Copied from the Exome Variant Server CAPN13_000175 1/12338 1/8352 0/3986
?/? c.388-13G>C r.(=) p.(=) g.30993328C>G Copied from the Exome Variant Server CAPN13_000173 497/12368 52/8364 445/4004
?/? c.395A>T r.(?) p.(Gln132Leu) g.30993308T>A Copied from the Exome Variant Server CAPN13_000171 7/12488 6/8412 1/4076
?/? c.418G>C r.(?) p.(Val140Leu) g.30993285C>G Copied from the Exome Variant Server CAPN13_000169 6/12622 5/8448 1/4174
?/? c.431G>C r.(?) p.(Arg144Pro) g.30993272C>G Copied from the Exome Variant Server CAPN13_000167 2/12666 0/8454 2/4212
?/? c.434_435insGCCT r.(?) p.(Val147Thrfs*6) g.30993268_30993269insAGGC Copied from the Exome Variant Server CAPN13_000166 1/12108 1/8076 0/4032
?/? c.447A>T r.(=) p.(=) g.30993256T>A Copied from the Exome Variant Server CAPN13_000165 1/12700 0/8466 1/4234
?/? c.459C>T r.(=) p.(=) g.30993244G>A Copied from the Exome Variant Server CAPN13_000164 1/12730 0/8486 1/4244
?/? c.467G>A r.(?) p.(Arg156His) g.30993236C>T Copied from the Exome Variant Server CAPN13_000163 2/12800 1/8510 1/4290
?/? c.524+15G>A r.(=) p.(=) g.30993164C>T Copied from the Exome Variant Server CAPN13_000162 2/12740 0/8498 2/4242
?/? c.524+17C>T r.(=) p.(=) g.30993162G>A Copied from the Exome Variant Server CAPN13_000161 50/12734 1/8498 49/4236
?/? c.524+19C>A r.(=) p.(=) g.30993160G>T Copied from the Exome Variant Server CAPN13_000160 8/12728 7/8492 1/4236
?/? c.524+47C>A r.(=) p.(=) g.30993132G>T Copied from the Exome Variant Server CAPN13_000159 542/12662 6/8458 536/4204
?/? c.525-34G>T r.(=) p.(=) g.30987206C>A Copied from the Exome Variant Server CAPN13_000158 1/12704 1/8470 0/4234
?/? c.525-28C>T r.(=) p.(=) g.30987200G>A Copied from the Exome Variant Server CAPN13_000157 1/12700 1/8462 0/4238
?/? c.532G>A r.(?) p.(Gly178Arg) g.30987165C>T Copied from the Exome Variant Server CAPN13_000156 1/12628 0/8432 1/4196
?/? c.543C>T r.(=) p.(=) g.30987154G>A Copied from the Exome Variant Server CAPN13_000155 1/12620 0/8430 1/4190
?/? c.544G>C r.(?) p.(Asp182His) g.30987153C>G Copied from the Exome Variant Server CAPN13_000154 6/12626 6/8428 0/4198
?/? c.557_558insG r.(?) p.(Phe187Leufs*71) g.30987139_30987140insC Copied from the Exome Variant Server CAPN13_000153 1/12070 1/8060 0/4010
?/? c.564C>T r.(=) p.(=) g.30987133G>A Copied from the Exome Variant Server CAPN13_000152 2/12596 0/8418 2/4178
?/? c.574C>G r.(?) p.(Leu192Val) g.30987123G>C Copied from the Exome Variant Server CAPN13_000151 1/12638 0/8438 1/4200
?/? c.580G>T r.(?) p.(Asp194Tyr) g.30987117C>A Copied from the Exome Variant Server CAPN13_000150 1/12646 0/8440 1/4206
?/? c.594C>T r.(=) p.(=) g.30987103G>A Copied from the Exome Variant Server CAPN13_000149 2/12700 1/8458 1/4242
?/? c.639G>A r.(=) p.(=) g.30987058C>T Copied from the Exome Variant Server CAPN13_000148 1/12666 0/8440 1/4226
?/? c.643G>T r.(?) p.(Ala215Ser) g.30987054C>A Copied from the Exome Variant Server CAPN13_000147 1/12650 1/8436 0/4214
?/? c.656C>G r.(?) p.(Ala219Gly) g.30987041G>C Copied from the Exome Variant Server CAPN13_000146 53/12618 47/8434 6/4184
?/? c.657G>A r.(=) p.(=) g.30987040C>T Copied from the Exome Variant Server CAPN13_000145 2/12576 2/8420 0/4156
?/? c.689C>T r.(?) p.(Thr230Ile) g.30987008G>A Copied from the Exome Variant Server CAPN13_000144 1/12408 0/8350 1/4058
?/? c.699+1G>A r.spl? p.? g.30986997C>T Copied from the Exome Variant Server CAPN13_000143 1/12358 0/8324 1/4034
?/? c.699+5G>A r.spl? p.? g.30986993C>T Copied from the Exome Variant Server CAPN13_000142 5/12338 0/8320 5/4018
?/? c.699+9C>A r.(=) p.(=) g.30986989G>T Copied from the Exome Variant Server CAPN13_000141 10812/12326 7550/8328 3262/3998
?/? c.699+12G>C r.(=) p.(=) g.30986986C>G Copied from the Exome Variant Server CAPN13_000140 2/12302 0/8312 2/3990
?/? c.700-9G>T r.(=) p.(=) g.30986031C>A Copied from the Exome Variant Server CAPN13_000139 1/12256 0/8308 1/3948
?/? c.708T>C r.(=) p.(=) g.30986014A>G Copied from the Exome Variant Server CAPN13_000138 1/12318 1/8336 0/3982
?/? c.716A>G r.(?) p.(Gln239Arg) g.30986006T>C Copied from the Exome Variant Server CAPN13_000137 3/12338 0/8348 3/3990
?/? c.719C>T r.(?) p.(Ala240Val) g.30986003G>A Copied from the Exome Variant Server CAPN13_000136 4/12346 0/8352 4/3994
?/? c.724G>A r.(?) p.(Glu242Lys) g.30985998C>T Copied from the Exome Variant Server CAPN13_000135 1/12360 1/8354 0/4006
?/? c.745C>T r.(?) p.(His249Tyr) g.30985977G>A Copied from the Exome Variant Server CAPN13_000134 46/12394 40/8368 6/4026
?/? c.775-44T>A r.(=) p.(=) g.30981047A>T Copied from the Exome Variant Server CAPN13_000133 1/11858 0/8160 1/3698
?/? c.838G>A r.(?) p.(Ala280Thr) g.30980940C>T Copied from the Exome Variant Server CAPN13_000131 9121/12072 5641/8248 3480/3824
?/? c.866+40G>A r.(=) p.(=) g.30980872C>T Copied from the Exome Variant Server CAPN13_000130 113/12528 2/8412 111/4116
?/? c.866+47G>A r.(=) p.(=) g.30980865C>T Copied from the Exome Variant Server CAPN13_000128 5/12606 0/8448 5/4158
?/? c.866+49C>T r.(=) p.(=) g.30980863G>A Copied from the Exome Variant Server CAPN13_000126 2/12612 1/8446 1/4166
?/? c.867-63A>G r.(=) p.(=) g.30977293T>C Copied from the Exome Variant Server CAPN13_000123 13/4566 1/3182 12/1384
?/? c.867-43G>T r.(=) p.(=) g.30977273C>A Copied from the Exome Variant Server CAPN13_000120 2/12126 0/8276 2/3850
?/? c.867-15T>C r.(=) p.(=) g.30977245A>G Copied from the Exome Variant Server CAPN13_000117 51/12128 1/8274 50/3854
?/? c.867-14G>A r.(=) p.(=) g.30977244C>T Copied from the Exome Variant Server CAPN13_000113 45/12132 40/8278 5/3854
?/? c.885A>G r.(=) p.(=) g.30977212T>C Copied from the Exome Variant Server CAPN13_000111 17/12152 0/8272 17/3880
?/? c.896C>T r.(?) p.(Pro299Leu) g.30977201G>A Copied from the Exome Variant Server CAPN13_000132 1/12124 1/8268 0/3856
?/? c.897G>A r.(=) p.(=) g.30977200C>T Copied from the Exome Variant Server CAPN13_000129 1/12108 0/8260 1/3848
?/? c.923G>A r.(?) p.(Arg308Gln) g.30977174C>T Copied from the Exome Variant Server CAPN13_000127 2/12066 1/8250 1/3816
?/? c.941+33A>G r.(=) p.(=) g.30977123T>C Copied from the Exome Variant Server CAPN13_000124 8/11904 0/8196 8/3708
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