ClinVar Miner

List of variants in gene CAPN5 studied for not provided

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Gene type:
ClinVar version:
Total variants: 620
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HGVS dbSNP gnomAD frequency
NM_004055.5(CAPN5):c.971+11A>G rs11604536 0.31042
NM_004055.5(CAPN5):c.1740+5G>C rs59430193 0.12599
NM_004055.5(CAPN5):c.30C>G (p.Asp10Glu) rs34801837 0.02474
NM_004055.5(CAPN5):c.167G>A (p.Gly56Asp) rs57014785 0.01838
NM_004055.5(CAPN5):c.1894C>A (p.Leu632Ile) rs111264315 0.00390
NM_004055.5(CAPN5):c.1653G>A (p.Ser551=) rs144226060 0.00368
NM_004055.5(CAPN5):c.399C>T (p.Asp133=) rs35359847 0.00285
NM_004055.5(CAPN5):c.804A>G (p.Leu268=) rs143460583 0.00260
NM_004055.5(CAPN5):c.1844G>A (p.Arg615Gln) rs143494790 0.00182
NM_004055.5(CAPN5):c.738C>T (p.Cys246=) rs34639786 0.00175
NM_004055.5(CAPN5):c.145G>A (p.Val49Ile) rs185836777 0.00132
NM_004055.5(CAPN5):c.894-3C>T rs199886178 0.00128
NM_004055.5(CAPN5):c.582T>C (p.Ser194=) rs140998191 0.00106
NM_004055.5(CAPN5):c.1495C>T (p.Arg499Cys) rs151286594 0.00101
NM_004055.5(CAPN5):c.1827C>T (p.Thr609=) rs138592828 0.00101
NM_004055.5(CAPN5):c.1167+3G>T rs150295190 0.00096
NM_004055.5(CAPN5):c.214G>A (p.Asp72Asn) rs144453005 0.00080
NM_004055.5(CAPN5):c.1837C>T (p.Arg613Trp) rs114632044 0.00079
NM_004055.5(CAPN5):c.618C>T (p.Asn206=) rs145714809 0.00078
NM_004055.5(CAPN5):c.21C>G (p.Pro7=) rs141606826 0.00074
NM_004055.5(CAPN5):c.52C>T (p.Arg18Trp) rs149132399 0.00066
NM_004055.5(CAPN5):c.297+12G>T rs149620556 0.00055
NM_004055.5(CAPN5):c.213C>T (p.His71=) rs149236442 0.00050
NM_004055.5(CAPN5):c.1603+3G>A rs375702967 0.00046
NM_004055.5(CAPN5):c.1291-12C>T rs148562841 0.00043
NM_004055.5(CAPN5):c.1912A>G (p.Met638Val) rs143402616 0.00042
NM_004055.5(CAPN5):c.1425C>T (p.Phe475=) rs200155687 0.00041
NM_004055.5(CAPN5):c.700-8C>T rs200667046 0.00037
NM_004055.5(CAPN5):c.1223G>A (p.Arg408Gln) rs137893074 0.00036
NM_004055.5(CAPN5):c.1282A>G (p.Ile428Val) rs147530510 0.00029
NM_004055.5(CAPN5):c.82G>A (p.Glu28Lys) rs202150535 0.00026
NM_004055.5(CAPN5):c.1222C>T (p.Arg408Trp) rs374843302 0.00024
NM_004055.5(CAPN5):c.1306C>T (p.Gln436Ter) rs140227693 0.00024
NM_004055.5(CAPN5):c.250G>T (p.Val84Leu) rs201227214 0.00022
NM_004055.5(CAPN5):c.507-17T>C rs763911222 0.00021
NM_004055.5(CAPN5):c.894-17C>T rs370028458 0.00020
NM_004055.5(CAPN5):c.1665G>A (p.Lys555=) rs146508429 0.00019
NM_004055.5(CAPN5):c.285G>A (p.Ser95=) rs144932888 0.00019
NM_004055.5(CAPN5):c.1290+17C>A rs536742363 0.00018
NM_004055.5(CAPN5):c.995G>A (p.Arg332Gln) rs544320019 0.00018
NM_004055.5(CAPN5):c.799G>A (p.Gly267Ser) rs782755981 0.00017
NM_004055.5(CAPN5):c.100G>A (p.Ala34Thr) rs374497977 0.00016
NM_004055.5(CAPN5):c.135G>A (p.Pro45=) rs370345478 0.00016
NM_004055.5(CAPN5):c.1486C>T (p.Arg496Trp) rs371034722 0.00016
NM_004055.5(CAPN5):c.297+6G>A rs370922533 0.00016
NM_004055.5(CAPN5):c.336A>G (p.Glu112=) rs200994438 0.00016
NM_004055.5(CAPN5):c.9G>A (p.Ser3=) rs182958020 0.00016
NM_004055.5(CAPN5):c.1818C>T (p.Ala606=) rs782386651 0.00014
NM_004055.5(CAPN5):c.197A>G (p.Asp66Gly) rs139536181 0.00014
NM_004055.5(CAPN5):c.1488-13C>T rs569122395 0.00013
NM_004055.5(CAPN5):c.166-13G>A rs782660724 0.00013
NM_004055.5(CAPN5):c.1693A>C (p.Lys565Gln) rs186771698 0.00013
NM_004055.5(CAPN5):c.1803G>A (p.Pro601=) rs150127749 0.00013
NM_004055.5(CAPN5):c.1092G>A (p.Thr364=) rs150707637 0.00012
NM_004055.5(CAPN5):c.297+11G>A rs374146255 0.00012
NM_004055.5(CAPN5):c.102C>T (p.Ala34=) rs145409406 0.00011
NM_004055.5(CAPN5):c.247T>C (p.Phe83Leu) rs148784108 0.00011
NM_004055.5(CAPN5):c.53G>A (p.Arg18Gln) rs200227062 0.00011
NM_004055.5(CAPN5):c.698A>G (p.Lys233Arg) rs782458870 0.00011
NM_004055.5(CAPN5):c.264G>A (p.Ser88=) rs199875193 0.00010
NM_004055.5(CAPN5):c.298-9C>G rs190963896 0.00010
NM_004055.5(CAPN5):c.650G>A (p.Arg217His) rs202032027 0.00010
NM_004055.5(CAPN5):c.1085C>G (p.Ala362Gly) rs782662986 0.00009
NM_004055.5(CAPN5):c.1333A>G (p.Lys445Glu) rs199893083 0.00009
NM_004055.5(CAPN5):c.1488-12G>A rs372626271 0.00009
NM_004055.5(CAPN5):c.1866C>T (p.Asn622=) rs370355438 0.00009
NM_004055.5(CAPN5):c.219G>A (p.Leu73=) rs200482775 0.00009
NM_004055.5(CAPN5):c.766G>A (p.Val256Ile) rs201007101 0.00009
NM_004055.5(CAPN5):c.1063G>A (p.Glu355Lys) rs782089468 0.00008
NM_004055.5(CAPN5):c.1167+7G>A rs571366019 0.00008
NM_004055.5(CAPN5):c.1475C>T (p.Pro492Leu) rs112872387 0.00008
NM_004055.5(CAPN5):c.1853G>A (p.Arg618Gln) rs782506945 0.00008
NM_004055.5(CAPN5):c.333C>T (p.Pro111=) rs782108809 0.00008
NM_004055.5(CAPN5):c.1117C>T (p.Arg373Cys) rs782125333 0.00007
NM_004055.5(CAPN5):c.1442G>A (p.Gly481Asp) rs782027905 0.00007
NM_004055.5(CAPN5):c.1626C>T (p.Ile542=) rs201480777 0.00007
NM_004055.5(CAPN5):c.64C>T (p.Arg22Cys) rs781837640 0.00007
NM_004055.5(CAPN5):c.1022G>A (p.Arg341His) rs782209266 0.00006
NM_004055.5(CAPN5):c.1059G>A (p.Thr353=) rs781910967 0.00006
NM_004055.5(CAPN5):c.1091C>T (p.Thr364Met) rs369083073 0.00006
NM_004055.5(CAPN5):c.1109G>A (p.Arg370Gln) rs372861545 0.00006
NM_004055.5(CAPN5):c.1244G>A (p.Arg415Gln) rs529481587 0.00006
NM_004055.5(CAPN5):c.155A>G (p.Lys52Arg) rs138015917 0.00006
NM_004055.5(CAPN5):c.298-15C>G rs372129605 0.00006
NM_004055.5(CAPN5):c.763G>A (p.Ala255Thr) rs782335833 0.00006
NM_004055.5(CAPN5):c.788G>A (p.Arg263His) rs200359404 0.00006
NM_004055.5(CAPN5):c.949G>A (p.Val317Met) rs782495056 0.00006
NM_004055.5(CAPN5):c.1106C>T (p.Pro369Leu) rs375065696 0.00005
NM_004055.5(CAPN5):c.1290+12C>T rs782595392 0.00005
NM_004055.5(CAPN5):c.166-14C>T rs369081304 0.00005
NM_004055.5(CAPN5):c.284C>T (p.Ser95Leu) rs374434959 0.00005
NM_004055.5(CAPN5):c.346G>A (p.Ala116Thr) rs374584917 0.00005
NM_004055.5(CAPN5):c.379C>T (p.Arg127Cys) rs559189456 0.00005
NM_004055.5(CAPN5):c.787C>T (p.Arg263Cys) rs373951153 0.00005
NM_004055.5(CAPN5):c.1024G>A (p.Val342Met) rs371777752 0.00004
NM_004055.5(CAPN5):c.1083C>T (p.Gly361=) rs782229214 0.00004
NM_004055.5(CAPN5):c.1108C>T (p.Arg370Ter) rs565629714 0.00004
NM_004055.5(CAPN5):c.1167+6C>T rs146408580 0.00004
NM_004055.5(CAPN5):c.1238C>T (p.Thr413Met) rs370528920 0.00004
NM_004055.5(CAPN5):c.1290+13G>A rs370253330 0.00004
NM_004055.5(CAPN5):c.1326G>A (p.Leu442=) rs145516176 0.00004
NM_004055.5(CAPN5):c.134C>T (p.Pro45Leu) rs782029119 0.00004
NM_004055.5(CAPN5):c.1379G>A (p.Arg460His) rs373394985 0.00004
NM_004055.5(CAPN5):c.141C>T (p.Pro47=) rs200603902 0.00004
NM_004055.5(CAPN5):c.1444G>A (p.Glu482Lys) rs782244741 0.00004
NM_004055.5(CAPN5):c.1496G>A (p.Arg499His) rs140490506 0.00004
NM_004055.5(CAPN5):c.150G>A (p.Arg50=) rs368891933 0.00004
NM_004055.5(CAPN5):c.1603+17A>G rs781846901 0.00004
NM_004055.5(CAPN5):c.179A>G (p.Asp60Gly) rs879952685 0.00004
NM_004055.5(CAPN5):c.185G>A (p.Arg62His) rs199504989 0.00004
NM_004055.5(CAPN5):c.23A>G (p.Tyr8Cys) rs1270133592 0.00004
NM_004055.5(CAPN5):c.395T>C (p.Val132Ala) rs782280017 0.00004
NM_004055.5(CAPN5):c.415C>T (p.Arg139Trp) rs376991847 0.00004
NM_004055.5(CAPN5):c.446dup (p.Tyr149Ter) rs781998387 0.00004
NM_004055.5(CAPN5):c.481G>A (p.Ala161Thr) rs145584161 0.00004
NM_004055.5(CAPN5):c.51G>A (p.Arg17=) rs145287641 0.00004
NM_004055.5(CAPN5):c.552C>T (p.Asp184=) rs371632041 0.00004
NM_004055.5(CAPN5):c.61C>T (p.Arg21Trp) rs746809647 0.00004
NM_004055.5(CAPN5):c.735G>A (p.Ala245=) rs782714088 0.00004
NM_004055.5(CAPN5):c.756C>T (p.His252=) rs369762721 0.00004
NM_004055.5(CAPN5):c.862G>A (p.Glu288Lys) rs184564362 0.00004
NM_004055.5(CAPN5):c.897G>A (p.Ser299=) rs545510595 0.00004
NM_004055.5(CAPN5):c.987C>T (p.Asp329=) rs781912140 0.00004
NM_004055.5(CAPN5):c.1073G>A (p.Arg358Gln) rs781886455 0.00003
NM_004055.5(CAPN5):c.108C>T (p.Asp36=) rs782476094 0.00003
NM_004055.5(CAPN5):c.1290+20C>T rs374512102 0.00003
NM_004055.5(CAPN5):c.1292T>C (p.Val431Ala) rs531631749 0.00003
NM_004055.5(CAPN5):c.132G>A (p.Thr44=) rs534369805 0.00003
NM_004055.5(CAPN5):c.1566T>C (p.His522=) rs781932053 0.00003
NM_004055.5(CAPN5):c.1648C>T (p.Arg550Cys) rs190746597 0.00003
NM_004055.5(CAPN5):c.165+10_165+13dup rs781837632 0.00003
NM_004055.5(CAPN5):c.1709G>A (p.Arg570His) rs141138795 0.00003
NM_004055.5(CAPN5):c.1740+20G>A rs782724385 0.00003
NM_004055.5(CAPN5):c.1741-18T>C rs782023701 0.00003
NM_004055.5(CAPN5):c.174C>T (p.Cys58=) rs782261995 0.00003
NM_004055.5(CAPN5):c.175G>A (p.Glu59Lys) rs1333223218 0.00003
NM_004055.5(CAPN5):c.344A>G (p.Asn115Ser) rs182772370 0.00003
NM_004055.5(CAPN5):c.353C>T (p.Ala118Val) rs782178755 0.00003
NM_004055.5(CAPN5):c.385G>A (p.Gly129Arg) rs375949463 0.00003
NM_004055.5(CAPN5):c.408C>T (p.Ile136=) rs369649104 0.00003
NM_004055.5(CAPN5):c.435C>T (p.Asn145=) rs1379915302 0.00003
NM_004055.5(CAPN5):c.463C>T (p.Arg155Cys) rs782741590 0.00003
NM_004055.5(CAPN5):c.570G>A (p.Thr190=) rs781900040 0.00003
NM_004055.5(CAPN5):c.599C>A (p.Thr200Asn) rs782369375 0.00003
NM_004055.5(CAPN5):c.705G>A (p.Val235=) rs782426442 0.00003
NM_004055.5(CAPN5):c.757G>A (p.Ala253Thr) rs782513405 0.00003
NM_004055.5(CAPN5):c.847C>T (p.Arg283Cys) rs372682170 0.00003
NM_004055.5(CAPN5):c.894-5C>G rs201223346 0.00003
NM_004055.5(CAPN5):c.994C>T (p.Arg332Trp) rs782554316 0.00003
NM_004055.5(CAPN5):c.1005G>A (p.Thr335=) rs140653304 0.00002
NM_004055.5(CAPN5):c.1023C>T (p.Arg341=) rs781970902 0.00002
NM_004055.5(CAPN5):c.109G>A (p.Asp37Asn) rs781003018 0.00002
NM_004055.5(CAPN5):c.1119C>T (p.Arg373=) rs776483406 0.00002
NM_004055.5(CAPN5):c.1199A>C (p.Glu400Ala) rs782642798 0.00002
NM_004055.5(CAPN5):c.1243C>T (p.Arg415Trp) rs1358317301 0.00002
NM_004055.5(CAPN5):c.1378C>T (p.Arg460Cys) rs148733225 0.00002
NM_004055.5(CAPN5):c.1393G>A (p.Glu465Lys) rs782813388 0.00002
NM_004055.5(CAPN5):c.152G>A (p.Trp51Ter) rs782508604 0.00002
NM_004055.5(CAPN5):c.1683G>A (p.Glu561=) rs782316668 0.00002
NM_004055.5(CAPN5):c.1838G>A (p.Arg613Gln) rs199509115 0.00002
NM_004055.5(CAPN5):c.1884C>T (p.Ala628=) rs200719609 0.00002
NM_004055.5(CAPN5):c.201C>T (p.Gly67=) rs781891405 0.00002
NM_004055.5(CAPN5):c.348C>T (p.Ala116=) rs782525814 0.00002
NM_004055.5(CAPN5):c.371A>G (p.His124Arg) rs1051815308 0.00002
NM_004055.5(CAPN5):c.400G>A (p.Val134Met) rs201701148 0.00002
NM_004055.5(CAPN5):c.480C>T (p.Cys160=) rs1184235273 0.00002
NM_004055.5(CAPN5):c.537A>T (p.Gly179=) rs782000046 0.00002
NM_004055.5(CAPN5):c.600C>T (p.Thr200=) rs782696665 0.00002
NM_004055.5(CAPN5):c.700-17A>G rs782564891 0.00002
NM_004055.5(CAPN5):c.739G>A (p.Gly247Ser) rs377145695 0.00002
NM_004055.5(CAPN5):c.81C>T (p.Phe27=) rs372486853 0.00002
NM_004055.5(CAPN5):c.893C>T (p.Thr298Ile) rs566712391 0.00002
NM_004055.5(CAPN5):c.8C>T (p.Ser3Leu) rs781796599 0.00002
NM_004055.5(CAPN5):c.928C>T (p.Arg310Trp) rs534203457 0.00002
NM_004055.5(CAPN5):c.971+6T>C rs782006156 0.00002
NM_004055.5(CAPN5):c.1002C>G (p.Phe334Leu) rs1950486834 0.00001
NM_004055.5(CAPN5):c.101C>T (p.Ala34Val) rs782469382 0.00001
NM_004055.5(CAPN5):c.1047C>T (p.Ser349=) rs550383276 0.00001
NM_004055.5(CAPN5):c.104del (p.Thr35fs) rs1402410502 0.00001
NM_004055.5(CAPN5):c.1058C>T (p.Thr353Met) rs782794684 0.00001
NM_004055.5(CAPN5):c.1080T>C (p.His360=) rs536151747 0.00001
NM_004055.5(CAPN5):c.1084G>A (p.Ala362Thr) rs782466794 0.00001
NM_004055.5(CAPN5):c.1107G>A (p.Pro369=) rs782174177 0.00001
NM_004055.5(CAPN5):c.1126G>A (p.Gly376Ser) rs781792601 0.00001
NM_004055.5(CAPN5):c.1131C>T (p.Cys377=) rs1329425326 0.00001
NM_004055.5(CAPN5):c.1168-18C>T rs376138114 0.00001
NM_004055.5(CAPN5):c.1168-20C>G rs782110874 0.00001
NM_004055.5(CAPN5):c.1179A>G (p.Glu393=) rs1172264325 0.00001
NM_004055.5(CAPN5):c.1181dup (p.Lys395fs) rs1555042243 0.00001
NM_004055.5(CAPN5):c.1182C>A (p.Val394=) rs1555042244 0.00001
NM_004055.5(CAPN5):c.1213A>G (p.Ile405Val) rs782677539 0.00001
NM_004055.5(CAPN5):c.121_123del (p.Tyr41del) rs782792970 0.00001
NM_004055.5(CAPN5):c.1227A>C (p.Pro409=) rs782600645 0.00001
NM_004055.5(CAPN5):c.1232G>A (p.Arg411Gln) rs782372843 0.00001
NM_004055.5(CAPN5):c.123T>C (p.Tyr41=) rs782250048 0.00001
NM_004055.5(CAPN5):c.1304G>A (p.Arg435His) rs781926169 0.00001
NM_004055.5(CAPN5):c.131C>T (p.Thr44Met) rs200629808 0.00001
NM_004055.5(CAPN5):c.1322G>T (p.Ser441Ile) rs782010591 0.00001
NM_004055.5(CAPN5):c.1339G>A (p.Ala447Thr) rs144340565 0.00001
NM_004055.5(CAPN5):c.133C>T (p.Pro45Ser) rs576151085 0.00001
NM_004055.5(CAPN5):c.1364G>T (p.Arg455Leu) rs915996598 0.00001
NM_004055.5(CAPN5):c.1368C>T (p.Ser456=) rs782378376 0.00001
NM_004055.5(CAPN5):c.1369G>A (p.Val457Ile) rs553160472 0.00001
NM_004055.5(CAPN5):c.1383C>T (p.Thr461=) rs781914817 0.00001
NM_004055.5(CAPN5):c.1384del (p.Asp462fs) rs1298290901 0.00001
NM_004055.5(CAPN5):c.1399C>T (p.Arg467Cys) rs1064797159 0.00001
NM_004055.5(CAPN5):c.13G>A (p.Val5Met) rs782594005 0.00001
NM_004055.5(CAPN5):c.1411A>C (p.Ile471Leu) rs782580306 0.00001
NM_004055.5(CAPN5):c.1426G>A (p.Glu476Lys) rs538890890 0.00001
NM_004055.5(CAPN5):c.1488-15G>A rs1555042861 0.00001
NM_004055.5(CAPN5):c.1488-5A>G rs1555042862 0.00001
NM_004055.5(CAPN5):c.157C>T (p.Arg53Ter) rs782197384 0.00001
NM_004055.5(CAPN5):c.158G>A (p.Arg53Gln) rs142613341 0.00001
NM_004055.5(CAPN5):c.1591G>T (p.Asp531Tyr) rs1555042900 0.00001
NM_004055.5(CAPN5):c.1600A>G (p.Thr534Ala) rs1424438375 0.00001
NM_004055.5(CAPN5):c.1624A>C (p.Ile542Leu) rs1555043077 0.00001
NM_004055.5(CAPN5):c.166-4G>A rs572570736 0.00001
NM_004055.5(CAPN5):c.1660C>T (p.Gln554Ter) rs781786896 0.00001
NM_004055.5(CAPN5):c.1673C>T (p.Ser558Phe) rs782596996 0.00001
NM_004055.5(CAPN5):c.1681G>A (p.Glu561Lys) rs782296700 0.00001
NM_004055.5(CAPN5):c.1708C>T (p.Arg570Cys) rs782363480 0.00001
NM_004055.5(CAPN5):c.1740+9C>T rs1555043130 0.00001
NM_004055.5(CAPN5):c.1781A>T (p.Gln594Leu) rs533673242 0.00001
NM_004055.5(CAPN5):c.1785G>A (p.Val595=) rs782515099 0.00001
NM_004055.5(CAPN5):c.1804G>T (p.Asp602Tyr) rs782207177 0.00001
NM_004055.5(CAPN5):c.180C>A (p.Asp60Glu) rs782370432 0.00001
NM_004055.5(CAPN5):c.1821G>T (p.Leu607=) rs782161947 0.00001
NM_004055.5(CAPN5):c.1843C>G (p.Arg615Gly) rs548678474 0.00001
NM_004055.5(CAPN5):c.1852C>T (p.Arg618Trp) rs201372363 0.00001
NM_004055.5(CAPN5):c.215A>G (p.Asp72Gly) rs782205506 0.00001
NM_004055.5(CAPN5):c.231G>A (p.Gln77=) rs782631999 0.00001
NM_004055.5(CAPN5):c.245G>C (p.Trp82Ser) rs1555037025 0.00001
NM_004055.5(CAPN5):c.273C>G (p.Ala91=) rs781834566 0.00001
NM_004055.5(CAPN5):c.275C>T (p.Ser92Phe) rs1397520233 0.00001
NM_004055.5(CAPN5):c.278G>A (p.Arg93Gln) rs781896927 0.00001
NM_004055.5(CAPN5):c.297+10C>T rs782295987 0.00001
NM_004055.5(CAPN5):c.297+17A>T rs1555037063 0.00001
NM_004055.5(CAPN5):c.297+3G>A rs782631237 0.00001
NM_004055.5(CAPN5):c.298-16C>T rs782670788 0.00001
NM_004055.5(CAPN5):c.298-18C>A rs1950422065 0.00001
NM_004055.5(CAPN5):c.298-19C>T rs1325107415 0.00001
NM_004055.5(CAPN5):c.330C>A (p.Asp110Glu) rs1950422986 0.00001
NM_004055.5(CAPN5):c.351C>T (p.Tyr117=) rs746258458 0.00001
NM_004055.5(CAPN5):c.36C>T (p.Asn12=) rs1950067692 0.00001
NM_004055.5(CAPN5):c.380G>A (p.Arg127His) rs377123751 0.00001
NM_004055.5(CAPN5):c.522C>T (p.Tyr174=) rs782567280 0.00001
NM_004055.5(CAPN5):c.572G>A (p.Gly191Asp) rs1046217126 0.00001
NM_004055.5(CAPN5):c.601G>A (p.Glu201Lys) rs782281851 0.00001
NM_004055.5(CAPN5):c.605G>C (p.Gly202Ala) rs1950445115 0.00001
NM_004055.5(CAPN5):c.65G>A (p.Arg22His) rs782464684 0.00001
NM_004055.5(CAPN5):c.671G>A (p.Arg224Gln) rs200993761 0.00001
NM_004055.5(CAPN5):c.70A>G (p.Lys24Glu) rs1201601451 0.00001
NM_004055.5(CAPN5):c.710C>T (p.Ala237Val) rs1555041533 0.00001
NM_004055.5(CAPN5):c.765C>T (p.Ala255=) rs901202847 0.00001
NM_004055.5(CAPN5):c.778C>T (p.Arg260Cys) rs782152437 0.00001
NM_004055.5(CAPN5):c.78C>T (p.Leu26=) rs538576711 0.00001
NM_004055.5(CAPN5):c.814T>C (p.Phe272Leu) rs1003325364 0.00001
NM_004055.5(CAPN5):c.841C>T (p.Arg281Cys) rs782494182 0.00001
NM_004055.5(CAPN5):c.853C>T (p.Pro285Ser) rs782652460 0.00001
NM_004055.5(CAPN5):c.87C>T (p.Asp29=) rs143254975 0.00001
NM_004055.5(CAPN5):c.93C>T (p.Leu31=) rs369753017 0.00001
NM_004055.5(CAPN5):c.948C>T (p.Thr316=) rs781870816 0.00001
NM_004055.5(CAPN5):c.957C>T (p.Asp319=) rs782685336 0.00001
NM_004055.5(CAPN5):c.960C>T (p.Asp320=) rs782454728 0.00001
NM_004055.5(CAPN5):c.981C>T (p.Phe327=) rs782771705 0.00001
NM_004055.5(CAPN5):c.988G>A (p.Val330Met) rs782459893 0.00001
NM_004055.5(CAPN5):c.1004C>A (p.Thr335Lys)
NM_004055.5(CAPN5):c.1004C>T (p.Thr335Met)
NM_004055.5(CAPN5):c.1009A>G (p.Ile337Val) rs1176521291
NM_004055.5(CAPN5):c.1021C>T (p.Arg341Cys) rs899357203
NM_004055.5(CAPN5):c.1041C>T (p.His347=)
NM_004055.5(CAPN5):c.1042C>G (p.Leu348Val) rs1253993437
NM_004055.5(CAPN5):c.1060_1061delinsAA (p.Trp354Lys)
NM_004055.5(CAPN5):c.1070C>T (p.Ala357Val)
NM_004055.5(CAPN5):c.1071C>T (p.Ala357=)
NM_004055.5(CAPN5):c.1072C>A (p.Arg358=)
NM_004055.5(CAPN5):c.1072C>T (p.Arg358Trp) rs141204411
NM_004055.5(CAPN5):c.1079A>G (p.His360Arg) rs2135483861
NM_004055.5(CAPN5):c.107A>G (p.Asp36Gly)
NM_004055.5(CAPN5):c.1089G>T (p.Trp363Cys)
NM_004055.5(CAPN5):c.1096C>G (p.His366Asp)
NM_004055.5(CAPN5):c.1102G>C (p.Asp368His) rs1386113551
NM_004055.5(CAPN5):c.1102del (p.Asp368fs) rs1467548403
NM_004055.5(CAPN5):c.1118G>A (p.Arg373His)
NM_004055.5(CAPN5):c.1120G>A (p.Gly374Ser) rs782148894
NM_004055.5(CAPN5):c.1125C>T (p.Gly375=)
NM_004055.5(CAPN5):c.1134C>T (p.Ile378=) rs782746877
NM_004055.5(CAPN5):c.1138C>T (p.His380Tyr)
NM_004055.5(CAPN5):c.1139A>G (p.His380Arg)
NM_004055.5(CAPN5):c.1150TTC[1] (p.Phe385del)
NM_004055.5(CAPN5):c.1155C>T (p.Phe385=)
NM_004055.5(CAPN5):c.1157A>G (p.Gln386Arg) rs2135484035
NM_004055.5(CAPN5):c.1167+20C>T
NM_004055.5(CAPN5):c.1168-4G>A
NM_004055.5(CAPN5):c.1168-6C>G rs2135485023
NM_004055.5(CAPN5):c.1168-9C>T
NM_004055.5(CAPN5):c.1168_1194dup (p.Glu398_Asp399insTyrIlePheGluValLysLysProGlu)
NM_004055.5(CAPN5):c.1176C>T (p.Phe392=)
NM_004055.5(CAPN5):c.1184A>G (p.Lys395Arg)
NM_004055.5(CAPN5):c.1188del (p.Lys396fs) rs1950496604
NM_004055.5(CAPN5):c.1195G>A (p.Asp399Asn)
NM_004055.5(CAPN5):c.1196A>G (p.Asp399Gly) rs2135485070
NM_004055.5(CAPN5):c.1201G>A (p.Val401Ile)
NM_004055.5(CAPN5):c.1203C>A (p.Val401=)
NM_004055.5(CAPN5):c.1203C>T (p.Val401=) rs2135485097
NM_004055.5(CAPN5):c.1213A>T (p.Ile405Phe) rs782677539
NM_004055.5(CAPN5):c.1223G>T (p.Arg408Leu)
NM_004055.5(CAPN5):c.1231C>A (p.Arg411=) rs1264178900
NM_004055.5(CAPN5):c.1231C>T (p.Arg411Trp)
NM_004055.5(CAPN5):c.1239G>A (p.Thr413=)
NM_004055.5(CAPN5):c.1240C>T (p.Arg414Cys)
NM_004055.5(CAPN5):c.1241G>A (p.Arg414His)
NM_004055.5(CAPN5):c.1241G>T (p.Arg414Leu) rs368150644
NM_004055.5(CAPN5):c.125dup (p.Thr44fs) rs1565259840
NM_004055.5(CAPN5):c.1260G>A (p.Glu420=)
NM_004055.5(CAPN5):c.1272T>G (p.Ile424Met)
NM_004055.5(CAPN5):c.127G>A (p.Gly43Ser)
NM_004055.5(CAPN5):c.1288A>C (p.Lys430Gln)
NM_004055.5(CAPN5):c.1290+15G>T rs1950498417
NM_004055.5(CAPN5):c.1290+16T>A
NM_004055.5(CAPN5):c.1290+19C>G
NM_004055.5(CAPN5):c.1290G>A (p.Lys430=) rs1950498145
NM_004055.5(CAPN5):c.1291-11G>A rs781900344
NM_004055.5(CAPN5):c.1291-11G>T
NM_004055.5(CAPN5):c.1291-14C>T
NM_004055.5(CAPN5):c.1291-16C>T
NM_004055.5(CAPN5):c.1291-17C>A rs1203191687
NM_004055.5(CAPN5):c.1291-17C>G
NM_004055.5(CAPN5):c.1291-4G>A
NM_004055.5(CAPN5):c.1291-5T>C
NM_004055.5(CAPN5):c.1291-8T>A
NM_004055.5(CAPN5):c.1294G>A (p.Glu432Lys)
NM_004055.5(CAPN5):c.129C>T (p.Gly43=)
NM_004055.5(CAPN5):c.1301A>G (p.Asn434Ser)
NM_004055.5(CAPN5):c.1302C>T (p.Asn434=)
NM_004055.5(CAPN5):c.1304G>T (p.Arg435Leu)
NM_004055.5(CAPN5):c.1307A>G (p.Gln436Arg) rs2135487475
NM_004055.5(CAPN5):c.1312C>A (p.Arg438Ser) rs372227864
NM_004055.5(CAPN5):c.1312C>T (p.Arg438Cys) rs372227864
NM_004055.5(CAPN5):c.1314C>T (p.Arg438=)
NM_004055.5(CAPN5):c.1320C>T (p.His440=) rs782789880
NM_004055.5(CAPN5):c.1321A>G (p.Ser441Gly)
NM_004055.5(CAPN5):c.1322G>A (p.Ser441Asn)
NM_004055.5(CAPN5):c.1327C>G (p.Gln443Glu)
NM_004055.5(CAPN5):c.132G>T (p.Thr44=) rs534369805
NM_004055.5(CAPN5):c.1339G>T (p.Ala447Ser)
NM_004055.5(CAPN5):c.1343G>A (p.Ser448Asn) rs1950513710
NM_004055.5(CAPN5):c.1349T>A (p.Ile450Asn) rs200490589
NM_004055.5(CAPN5):c.1349T>C (p.Ile450Thr)
NM_004055.5(CAPN5):c.1350C>T (p.Ile450=)
NM_004055.5(CAPN5):c.1354A>G (p.Ile452Val)
NM_004055.5(CAPN5):c.1362A>T (p.Ser454=)
NM_004055.5(CAPN5):c.1363C>T (p.Arg455Cys)
NM_004055.5(CAPN5):c.1372T>C (p.Phe458Leu)
NM_004055.5(CAPN5):c.1375C>A (p.Leu459Met)
NM_004055.5(CAPN5):c.1379G>T (p.Arg460Leu) rs373394985
NM_004055.5(CAPN5):c.137G>A (p.Gly46Glu) rs1950070183
NM_004055.5(CAPN5):c.1391C>T (p.Pro464Leu)
NM_004055.5(CAPN5):c.1397G>A (p.Gly466Asp) rs1950514489
NM_004055.5(CAPN5):c.1400G>A (p.Arg467His) rs142336480
NM_004055.5(CAPN5):c.1401C>T (p.Arg467=)
NM_004055.5(CAPN5):c.1408A>T (p.Ile470Phe)
NM_004055.5(CAPN5):c.142G>A (p.Ala48Thr)
NM_004055.5(CAPN5):c.1433G>T (p.Gly478Val)
NM_004055.5(CAPN5):c.1434C>T (p.Gly478=)
NM_004055.5(CAPN5):c.1438A>G (p.Thr480Ala)
NM_004055.5(CAPN5):c.1439C>T (p.Thr480Ile)
NM_004055.5(CAPN5):c.1458A>C (p.Arg486=) rs1302429546
NM_004055.5(CAPN5):c.1474C>T (p.Pro492Ser)
NM_004055.5(CAPN5):c.1481A>G (p.Asn494Ser) rs79218583
NM_004055.5(CAPN5):c.1487+10G>A
NM_004055.5(CAPN5):c.1487+12C>T
NM_004055.5(CAPN5):c.1487+14G>A
NM_004055.5(CAPN5):c.1487+18T>G
NM_004055.5(CAPN5):c.1487+5T>C rs1409608258
NM_004055.5(CAPN5):c.1487G>A (p.Arg496Gln)
NM_004055.5(CAPN5):c.1488-18C>T
NM_004055.5(CAPN5):c.1488-1G>A rs2135489322
NM_004055.5(CAPN5):c.1489G>C (p.Glu497Gln)
NM_004055.5(CAPN5):c.1515C>T (p.His505=) rs1591151241
NM_004055.5(CAPN5):c.1518C>T (p.Thr506=)
NM_004055.5(CAPN5):c.1531C>T (p.Leu511Phe) rs868938624
NM_004055.5(CAPN5):c.1542C>A (p.Tyr514Ter) rs963271162
NM_004055.5(CAPN5):c.1545C>A (p.Pro515=) rs1322716567
NM_004055.5(CAPN5):c.1551G>A (p.Leu517=)
NM_004055.5(CAPN5):c.1557C>A (p.Thr519=)
NM_004055.5(CAPN5):c.1561G>T (p.Val521Leu)
NM_004055.5(CAPN5):c.156G>T (p.Lys52Asn) rs1950070679
NM_004055.5(CAPN5):c.1572G>C (p.Leu524=)
NM_004055.5(CAPN5):c.1579G>C (p.Ala527Pro)
NM_004055.5(CAPN5):c.1599A>C (p.Pro533=)
NM_004055.5(CAPN5):c.1603+10C>G
NM_004055.5(CAPN5):c.1603+1G>A rs994439885
NM_004055.5(CAPN5):c.1603+2T>G rs1950525000
NM_004055.5(CAPN5):c.1603+3G>T rs375702967
NM_004055.5(CAPN5):c.1603+6CT[3]
NM_004055.5(CAPN5):c.1603+9_1603+12dup rs2135489524
NM_004055.5(CAPN5):c.1604-10C>T
NM_004055.5(CAPN5):c.1604-12C>A rs2135490537
NM_004055.5(CAPN5):c.1604-20C>T
NM_004055.5(CAPN5):c.160C>T (p.Pro54Ser)
NM_004055.5(CAPN5):c.1611C>T (p.Asn537=)
NM_004055.5(CAPN5):c.1614T>C (p.Ser538=)
NM_004055.5(CAPN5):c.1617T>A (p.Tyr539Ter) rs782337445
NM_004055.5(CAPN5):c.1622TCA[1] (p.Ile542del)
NM_004055.5(CAPN5):c.1649G>A (p.Arg550His) rs782717683
NM_004055.5(CAPN5):c.1649G>T (p.Arg550Leu)
NM_004055.5(CAPN5):c.165+2904C>T
NM_004055.5(CAPN5):c.165+5del rs2135423551
NM_004055.5(CAPN5):c.1651T>G (p.Ser551Ala)
NM_004055.5(CAPN5):c.1652C>T (p.Ser551Leu)
NM_004055.5(CAPN5):c.1654G>T (p.Ala552Ser) rs1950533642
NM_004055.5(CAPN5):c.166-19C>T
NM_004055.5(CAPN5):c.166-5C>T
NM_004055.5(CAPN5):c.166-6C>T rs1256947358
NM_004055.5(CAPN5):c.1670C>T (p.Thr557Ile)
NM_004055.5(CAPN5):c.168C>T (p.Gly56=)
NM_004055.5(CAPN5):c.1698C>T (p.Gly566=)
NM_004055.5(CAPN5):c.1699A>G (p.Ile567Val)
NM_004055.5(CAPN5):c.1704C>T (p.Phe568=)
NM_004055.5(CAPN5):c.1707C>T (p.Tyr569=)
NM_004055.5(CAPN5):c.1708C>A (p.Arg570Ser)
NM_004055.5(CAPN5):c.1715A>G (p.Lys572Arg) rs2135490831
NM_004055.5(CAPN5):c.171C>T (p.Ile57=) rs2135435956
NM_004055.5(CAPN5):c.1726C>A (p.Pro576Thr) rs782134580
NM_004055.5(CAPN5):c.1728del (p.Ile577fs) rs1442639701
NM_004055.5(CAPN5):c.1740+12G>A rs2135490927
NM_004055.5(CAPN5):c.1740+17A>G
NM_004055.5(CAPN5):c.1740+1G>A
NM_004055.5(CAPN5):c.1740+7C>A
NM_004055.5(CAPN5):c.1741-5C>T
NM_004055.5(CAPN5):c.1741-7T>C
NM_004055.5(CAPN5):c.1741-8C>T
NM_004055.5(CAPN5):c.1749C>G (p.Asn583Lys)
NM_004055.5(CAPN5):c.1754G>A (p.Arg585Gln)
NM_004055.5(CAPN5):c.1769A>T (p.Glu590Val)
NM_004055.5(CAPN5):c.1781A>G (p.Gln594Arg)
NM_004055.5(CAPN5):c.1800C>T (p.Asp600=)
NM_004055.5(CAPN5):c.1802C>T (p.Pro601Leu)
NM_004055.5(CAPN5):c.1802del (p.Pro601fs)
NM_004055.5(CAPN5):c.1807A>G (p.Asn603Asp)
NM_004055.5(CAPN5):c.1813C>T (p.Gln605Ter)
NM_004055.5(CAPN5):c.1826C>G (p.Thr609Ser) rs781953780
NM_004055.5(CAPN5):c.1829T>C (p.Leu610Pro) rs1555043353
NM_004055.5(CAPN5):c.182C>T (p.Pro61Leu)
NM_004055.5(CAPN5):c.183C>T (p.Pro61=) rs1555036992
NM_004055.5(CAPN5):c.184del (p.Arg62fs)
NM_004055.5(CAPN5):c.1860C>T (p.Pro620=) rs2135492919
NM_004055.5(CAPN5):c.186C>T (p.Arg62=)
NM_004055.5(CAPN5):c.1877del (p.Thr626fs)
NM_004055.5(CAPN5):c.1881G>A (p.Val627=) rs2135492956
NM_004055.5(CAPN5):c.1896C>T (p.Leu632=)
NM_004055.5(CAPN5):c.18G>A (p.Lys6=)
NM_004055.5(CAPN5):c.1900_*42del (p.Ser634_Ter641del)
NM_004055.5(CAPN5):c.1901G>A (p.Ser634Asn) rs782034352
NM_004055.5(CAPN5):c.1913T>C (p.Met638Thr)
NM_004055.5(CAPN5):c.1921T>C (p.Ter641Arg) rs1555043383
NM_004055.5(CAPN5):c.1923A>T (p.Ter641Cys) rs749062696
NM_004055.5(CAPN5):c.195G>A (p.Val65=)
NM_004055.5(CAPN5):c.198T>C (p.Asp66=)
NM_004055.5(CAPN5):c.203T>G (p.Ile68Ser) rs2135436081
NM_004055.5(CAPN5):c.209C>T (p.Ser70Phe)
NM_004055.5(CAPN5):c.222C>T (p.His74=)
NM_004055.5(CAPN5):c.228C>A (p.Gly76=)
NM_004055.5(CAPN5):c.242G>T (p.Cys81Phe)
NM_004055.5(CAPN5):c.255A>G (p.Ala85=)
NM_004055.5(CAPN5):c.263C>T (p.Ser88Leu)
NM_004055.5(CAPN5):c.265T>C (p.Ser89Pro)
NM_004055.5(CAPN5):c.277C>T (p.Arg93Trp)
NM_004055.5(CAPN5):c.28G>A (p.Asp10Asn)
NM_004055.5(CAPN5):c.290G>T (p.Trp97Leu) rs1950179638
NM_004055.5(CAPN5):c.296A>G (p.Lys99Arg) rs2135436381
NM_004055.5(CAPN5):c.297+3G>C rs782631237
NM_004055.5(CAPN5):c.297+9T>G
NM_004055.5(CAPN5):c.298-15C>T rs372129605
NM_004055.5(CAPN5):c.298-5C>T
NM_004055.5(CAPN5):c.29A>G (p.Asp10Gly)
NM_004055.5(CAPN5):c.30C>T (p.Asp10=)
NM_004055.5(CAPN5):c.311G>A (p.Trp104Ter)
NM_004055.5(CAPN5):c.318G>C (p.Glu106Asp)
NM_004055.5(CAPN5):c.327G>A (p.Trp109Ter)
NM_004055.5(CAPN5):c.342C>A (p.Pro114=)
NM_004055.5(CAPN5):c.349T>G (p.Tyr117Asp)
NM_004055.5(CAPN5):c.355G>A (p.Gly119Ser) rs1950423612
NM_004055.5(CAPN5):c.400G>C (p.Val134Leu) rs201701148
NM_004055.5(CAPN5):c.403G>C (p.Val135Leu)
NM_004055.5(CAPN5):c.414C>A (p.Asp138Glu) rs188838312
NM_004055.5(CAPN5):c.414C>T (p.Asp138=)
NM_004055.5(CAPN5):c.416G>A (p.Arg139Gln)
NM_004055.5(CAPN5):c.423C>T (p.Pro141=)
NM_004055.5(CAPN5):c.431A>G (p.Asn144Ser)
NM_004055.5(CAPN5):c.432C>A (p.Asn144Lys)
NM_004055.5(CAPN5):c.447C>T (p.Tyr149=)
NM_004055.5(CAPN5):c.44C>T (p.Ala15Val)
NM_004055.5(CAPN5):c.464G>A (p.Arg155His) rs140079181
NM_004055.5(CAPN5):c.464G>T (p.Arg155Leu)
NM_004055.5(CAPN5):c.468T>C (p.Asn156=)
NM_004055.5(CAPN5):c.469G>A (p.Glu157Lys)
NM_004055.5(CAPN5):c.490G>A (p.Glu164Lys) rs1950425385
NM_004055.5(CAPN5):c.493A>G (p.Lys165Glu) rs2135475005
NM_004055.5(CAPN5):c.500A>G (p.Tyr167Cys)
NM_004055.5(CAPN5):c.501T>C (p.Tyr167=)
NM_004055.5(CAPN5):c.506+19C>T rs2135475048
NM_004055.5(CAPN5):c.506+20_506+23dup
NM_004055.5(CAPN5):c.507-15C>G
NM_004055.5(CAPN5):c.507-16C>G
NM_004055.5(CAPN5):c.507-16C>T rs782481098
NM_004055.5(CAPN5):c.507-1G>C
NM_004055.5(CAPN5):c.507-7T>G rs782250691
NM_004055.5(CAPN5):c.510G>A (p.Leu170=)
NM_004055.5(CAPN5):c.515G>T (p.Gly172Val)
NM_004055.5(CAPN5):c.525G>C (p.Gln175His)
NM_004055.5(CAPN5):c.544A>C (p.Thr182Pro) rs2135477323
NM_004055.5(CAPN5):c.545CAG[1] (p.Ala183del) rs1950443892
NM_004055.5(CAPN5):c.547G>A (p.Ala183Thr) rs782423035
NM_004055.5(CAPN5):c.547G>T (p.Ala183Ser)
NM_004055.5(CAPN5):c.553G>A (p.Ala185Thr)
NM_004055.5(CAPN5):c.554C>T (p.Ala185Val) rs1555041289
NM_004055.5(CAPN5):c.562G>T (p.Asp188Tyr) rs782741320
NM_004055.5(CAPN5):c.564C>G (p.Asp188Glu) rs781820376
NM_004055.5(CAPN5):c.565T>C (p.Phe189Leu)
NM_004055.5(CAPN5):c.570G>T (p.Thr190=)
NM_004055.5(CAPN5):c.572G>T (p.Gly191Val)
NM_004055.5(CAPN5):c.57C>T (p.Asp19=) rs1050323801
NM_004055.5(CAPN5):c.57dup (p.Cys20fs)
NM_004055.5(CAPN5):c.581C>G (p.Ser194Cys)
NM_004055.5(CAPN5):c.590T>C (p.Ile197Thr) rs2135477429
NM_004055.5(CAPN5):c.592G>C (p.Asp198His)
NM_004055.5(CAPN5):c.599C>T (p.Thr200Ile) rs782369375
NM_004055.5(CAPN5):c.605G>A (p.Gly202Asp)
NM_004055.5(CAPN5):c.608A>T (p.Asp203Val)
NM_004055.5(CAPN5):c.619G>A (p.Asp207Asn)
NM_004055.5(CAPN5):c.620A>G (p.Asp207Gly)
NM_004055.5(CAPN5):c.62G>A (p.Arg21Gln)
NM_004055.5(CAPN5):c.639G>C (p.Gln213His) rs2135477518
NM_004055.5(CAPN5):c.649C>A (p.Arg217Ser)
NM_004055.5(CAPN5):c.649C>T (p.Arg217Cys)
NM_004055.5(CAPN5):c.650G>C (p.Arg217Pro)
NM_004055.5(CAPN5):c.650G>T (p.Arg217Leu)
NM_004055.5(CAPN5):c.652A>C (p.Met218Leu) rs1950445545
NM_004055.5(CAPN5):c.670C>A (p.Arg224=)
NM_004055.5(CAPN5):c.675C>A (p.Gly225=) rs140555115
NM_004055.5(CAPN5):c.675C>T (p.Gly225=) rs140555115
NM_004055.5(CAPN5):c.676G>A (p.Gly226Ser)
NM_004055.5(CAPN5):c.67A>T (p.Arg23Trp) rs369938944
NM_004055.5(CAPN5):c.681C>T (p.Leu227=)
NM_004055.5(CAPN5):c.686G>A (p.Ser229Asn)
NM_004055.5(CAPN5):c.686G>C (p.Ser229Thr)
NM_004055.5(CAPN5):c.699+10C>G rs782239309
NM_004055.5(CAPN5):c.699+10C>T
NM_004055.5(CAPN5):c.699+9A>C rs1019760867
NM_004055.5(CAPN5):c.6C>G (p.Phe2Leu)
NM_004055.5(CAPN5):c.700-12G>A
NM_004055.5(CAPN5):c.700-14G>A
NM_004055.5(CAPN5):c.700-15T>G
NM_004055.5(CAPN5):c.701C>T (p.Ala234Val)
NM_004055.5(CAPN5):c.709G>A (p.Ala237Thr)
NM_004055.5(CAPN5):c.721del (p.Glu241fs) rs782425784
NM_004055.5(CAPN5):c.722A>T (p.Glu241Val) rs1950456494
NM_004055.5(CAPN5):c.724G>A (p.Ala242Thr) rs1555041536
NM_004055.5(CAPN5):c.727C>A (p.Arg243Ser)
NM_004055.5(CAPN5):c.728G>T (p.Arg243Leu) rs397514601
NM_004055.5(CAPN5):c.731T>C (p.Leu244Pro) rs397514602
NM_004055.5(CAPN5):c.732G>A (p.Leu244=)
NM_004055.5(CAPN5):c.734C>A (p.Ala245Glu) rs1555041542
NM_004055.5(CAPN5):c.734C>T (p.Ala245Val)
NM_004055.5(CAPN5):c.741C>G (p.Gly247=)
NM_004055.5(CAPN5):c.743T>A (p.Leu248Gln) rs2135479130
NM_004055.5(CAPN5):c.74T>C (p.Val25Ala) rs1591117022
NM_004055.5(CAPN5):c.750G>T (p.Lys250Asn) rs1950456995
NM_004055.5(CAPN5):c.75G>C (p.Val25=)
NM_004055.5(CAPN5):c.762C>A (p.Tyr254Ter) rs199542451
NM_004055.5(CAPN5):c.76C>T (p.Leu26Phe)
NM_004055.5(CAPN5):c.774T>A (p.Asp258Glu) rs1950457337
NM_004055.5(CAPN5):c.776T>C (p.Val259Ala)
NM_004055.5(CAPN5):c.779G>A (p.Arg260His)
NM_004055.5(CAPN5):c.786G>A (p.Val262=)
NM_004055.5(CAPN5):c.794G>A (p.Gly265Asp)
NM_004055.5(CAPN5):c.798C>T (p.His266=)
NM_004055.5(CAPN5):c.807G>A (p.Leu269=) rs1950457832
NM_004055.5(CAPN5):c.811TTC[1] (p.Phe272del)
NM_004055.5(CAPN5):c.814T>G (p.Phe272Val)
NM_004055.5(CAPN5):c.829T>C (p.Leu277=)
NM_004055.5(CAPN5):c.840C>A (p.Ile280=) rs1173308317
NM_004055.5(CAPN5):c.841del (p.Arg281fs) rs782001179
NM_004055.5(CAPN5):c.842G>A (p.Arg281His) rs369224922
NM_004055.5(CAPN5):c.848G>A (p.Arg283His)
NM_004055.5(CAPN5):c.865C>T (p.Arg289Trp) rs886041303
NM_004055.5(CAPN5):c.879G>A (p.Gly293=) rs148213292
NM_004055.5(CAPN5):c.879G>T (p.Gly293=) rs148213292
NM_004055.5(CAPN5):c.893+20G>T rs782395352
NM_004055.5(CAPN5):c.894-10G>A
NM_004055.5(CAPN5):c.894-4C>T
NM_004055.5(CAPN5):c.894-7A>G
NM_004055.5(CAPN5):c.894C>T (p.Thr298=) rs577452164
NM_004055.5(CAPN5):c.896C>T (p.Ser299Leu)
NM_004055.5(CAPN5):c.89C>T (p.Pro30Leu)
NM_004055.5(CAPN5):c.90C>A (p.Pro30=) rs34236021
NM_004055.5(CAPN5):c.90C>G (p.Pro30=)
NM_004055.5(CAPN5):c.90C>T (p.Pro30=) rs34236021
NM_004055.5(CAPN5):c.91C>G (p.Leu31Val)
NM_004055.5(CAPN5):c.91del (p.Leu31fs) rs781925553
NM_004055.5(CAPN5):c.91dup (p.Leu31fs)
NM_004055.5(CAPN5):c.929G>A (p.Arg310Gln)
NM_004055.5(CAPN5):c.933G>A (p.Glu311=) rs2135480721
NM_004055.5(CAPN5):c.940G>C (p.Gly314Arg)
NM_004055.5(CAPN5):c.953A>G (p.Gln318Arg) rs1950467589
NM_004055.5(CAPN5):c.955G>A (p.Asp319Asn)
NM_004055.5(CAPN5):c.958G>A (p.Asp320Asn)
NM_004055.5(CAPN5):c.959A>G (p.Asp320Gly) rs2135480794
NM_004055.5(CAPN5):c.961G>A (p.Gly321Ser)
NM_004055.5(CAPN5):c.971+11_971+12del rs782137559
NM_004055.5(CAPN5):c.971+13G>A
NM_004055.5(CAPN5):c.971+18C>A rs781929811
NM_004055.5(CAPN5):c.972-10C>T rs781831504
NM_004055.5(CAPN5):c.972-20C>T
NM_004055.5(CAPN5):c.972-9del
NM_004055.5(CAPN5):c.995G>T (p.Arg332Leu) rs544320019
NM_004055.5(CAPN5):c.998A>T (p.Tyr333Phe) rs1555042066
NM_004055.5(CAPN5):c.99C>T (p.Pro33=)

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