ClinVar Miner

List of variants in gene combination C1QTNF5, MFRP reported by Invitae

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Gene type:
ClinVar version:
Total variants: 689
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HGVS dbSNP gnomAD frequency
NM_031433.4(MFRP):c.540T>C (p.His180=) rs2510143 0.91859
NM_031433.4(MFRP):c.406G>A (p.Val136Met) rs3814762 0.24523
NM_031433.4(MFRP):c.492C>T (p.Tyr164=) rs36015759 0.23503
NM_031433.4(MFRP):c.1387+3G>A rs11217241 0.08734
NM_031433.4(MFRP):c.954G>A (p.Leu318=) rs35885438 0.04136
NM_031433.4(MFRP):c.770G>A (p.Arg257His) rs61736238 0.03023
NM_031433.4(MFRP):c.355A>G (p.Ile119Val) rs4639950 0.01611
NM_031433.4(MFRP):c.160C>G (p.Arg54Gly) rs139436396 0.00934
NM_031433.4(MFRP):c.1374G>T (p.Leu458Phe) rs145881139 0.00888
NM_031433.4(MFRP):c.1635G>A (p.Ala545=) rs138370910 0.00631
NM_031433.4(MFRP):c.975+18T>C rs185451482 0.00589
NM_031433.4(MFRP):c.72T>C (p.Pro24=) rs77225944 0.00362
NM_031433.4(MFRP):c.629G>T (p.Gly210Val) rs150902999 0.00344
NM_031433.4(MFRP):c.641+9C>T rs189840088 0.00337
NM_031433.4(MFRP):c.773-8A>C rs143891457 0.00264
NM_031433.4(MFRP):c.*1237G>A rs148291350 0.00207
NM_031433.4(MFRP):c.669G>A (p.Thr223=) rs139222274 0.00187
NM_031433.4(MFRP):c.773-9C>T rs187321874 0.00176
NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg) rs145319149 0.00126
NM_031433.4(MFRP):c.195C>T (p.Phe65=) rs138913508 0.00111
NM_031433.4(MFRP):c.191G>A (p.Arg64His) rs149376662 0.00106
NM_031433.4(MFRP):c.315G>A (p.Leu105=) rs141109062 0.00085
NM_031433.4(MFRP):c.157+7A>G rs150062629 0.00069
NM_031433.4(MFRP):c.976-14A>C rs200069261 0.00050
NM_031433.4(MFRP):c.1345G>A (p.Gly449Ser) rs139725672 0.00048
NM_001278431.2(C1QTNF5):c.214+9G>A rs771777653 0.00039
NM_031433.4(MFRP):c.1387+20G>A rs371437024 0.00037
NM_031433.4(MFRP):c.1516-19G>A rs200556504 0.00035
NM_031433.4(MFRP):c.360C>A (p.Thr120=) rs369448482 0.00031
NM_031433.4(MFRP):c.48G>A (p.Ser16=) rs371836189 0.00026
NM_031433.4(MFRP):c.477C>G (p.Asn159Lys) rs140629667 0.00023
NM_031433.4(MFRP):c.*1289C>A rs146971652 0.00022
NM_031433.4(MFRP):c.192C>G (p.Arg64=) rs200143181 0.00019
NM_031433.4(MFRP):c.796C>T (p.Arg266Cys) rs138295825 0.00019
NM_031433.4(MFRP):c.950A>G (p.Tyr317Cys) rs151160924 0.00019
NM_031433.4(MFRP):c.271+13G>A rs372624347 0.00018
NM_031433.4(MFRP):c.110C>T (p.Pro37Leu) rs147251765 0.00017
NM_031433.4(MFRP):c.158-20C>G rs527834636 0.00017
NM_031433.4(MFRP):c.428C>G (p.Thr143Ser) rs149712249 0.00017
NM_031433.4(MFRP):c.768G>A (p.Gly256=) rs370837458 0.00015
NM_031433.4(MFRP):c.642-16A>G rs557131772 0.00014
NM_031433.4(MFRP):c.1056C>T (p.Asp352=) rs139725826 0.00013
NM_031433.4(MFRP):c.1542G>C (p.Gln514His) rs368172459 0.00013
NM_031433.4(MFRP):c.642-3C>T rs759013047 0.00013
NM_031433.4(MFRP):c.971A>G (p.Gln324Arg) rs142198552 0.00013
NM_001278431.2(C1QTNF5):c.36G>A (p.Leu12=) rs534690569 0.00012
NM_031433.4(MFRP):c.1124+1G>T rs145719998 0.00011
NM_031433.4(MFRP):c.159T>C (p.Gly53=) rs372897338 0.00011
NM_031433.4(MFRP):c.1256-4G>A rs142533439 0.00010
NM_031433.4(MFRP):c.161G>A (p.Arg54Gln) rs370918050 0.00010
NM_031433.4(MFRP):c.706G>A (p.Val236Ile) rs147276252 0.00010
NM_001278431.2(C1QTNF5):c.7C>A (p.Pro3Thr) rs966935571 0.00009
NM_031433.4(MFRP):c.1006G>A (p.Gly336Arg) rs553614519 0.00009
NM_031433.4(MFRP):c.1497G>A (p.Glu499=) rs375425631 0.00009
NM_031433.4(MFRP):c.472C>T (p.Pro158Ser) rs758420491 0.00009
NM_031433.4(MFRP):c.491_492insT (p.Asn167fs) rs730882143 0.00009
NM_031433.4(MFRP):c.897G>A (p.Ser299=) rs150284394 0.00009
NM_001278431.2(C1QTNF5):c.186G>A (p.Pro62=) rs755185079 0.00008
NM_031433.4(MFRP):c.1616G>A (p.Arg539His) rs750570918 0.00008
NM_031433.4(MFRP):c.335C>T (p.Thr112Met) rs145883448 0.00008
NM_031433.4(MFRP):c.705C>T (p.Phe235=) rs34190279 0.00008
NM_031433.4(MFRP):c.861C>T (p.Asp287=) rs140710522 0.00008
NM_031433.4(MFRP):c.164G>A (p.Arg55His) rs761408905 0.00007
NM_031433.4(MFRP):c.772+18T>C rs200795678 0.00007
NM_031433.4(MFRP):c.899-10C>A rs370434693 0.00007
NM_031433.4(MFRP):c.965C>T (p.Pro322Leu) rs774285673 0.00007
NM_031433.4(MFRP):c.1124+13G>T rs375934498 0.00006
NM_031433.4(MFRP):c.1255+16C>A rs370286787 0.00006
NM_031433.4(MFRP):c.1258C>G (p.Pro420Ala) rs767917702 0.00006
NM_031433.4(MFRP):c.1366G>A (p.Gly456Ser) rs369531002 0.00006
NM_031433.4(MFRP):c.1388-8C>T rs576998134 0.00006
NM_031433.4(MFRP):c.139G>A (p.Val47Ile) rs143802236 0.00006
NM_031433.4(MFRP):c.178C>T (p.Arg60Trp) rs771937766 0.00006
NM_031433.4(MFRP):c.57C>T (p.Thr19=) rs368205663 0.00006
NM_031433.4(MFRP):c.642-2A>G rs376898612 0.00006
NM_031433.4(MFRP):c.771C>T (p.Arg257=) rs199739786 0.00006
NM_031433.4(MFRP):c.898+5G>A rs201089284 0.00006
NM_001278431.2(C1QTNF5):c.598G>C (p.Glu200Gln) rs763473287 0.00005
NM_031433.4(MFRP):c.158-5C>T rs377284471 0.00005
NM_031433.4(MFRP):c.271+11G>A rs185182877 0.00005
NM_031433.4(MFRP):c.425C>A (p.Ser142Tyr) rs145568020 0.00005
NM_031433.4(MFRP):c.546A>G (p.Ile182Met) rs557306519 0.00005
NM_031433.4(MFRP):c.739C>T (p.His247Tyr) rs762968896 0.00005
NM_031433.4(MFRP):c.797G>A (p.Arg266His) rs201021366 0.00005
NM_001278431.2(C1QTNF5):c.37G>A (p.Ala13Thr) rs1444774049 0.00004
NM_001278431.2(C1QTNF5):c.498T>C (p.Phe166=) rs778087130 0.00004
NM_001278431.2(C1QTNF5):c.548G>C (p.Gly183Ala) rs557404721 0.00004
NM_001278431.2(C1QTNF5):c.567C>T (p.Ala189=) rs371634525 0.00004
NM_031433.4(MFRP):c.1005C>T (p.Ala335=) rs374278010 0.00004
NM_031433.4(MFRP):c.1013G>A (p.Ser338Asn) rs147614299 0.00004
NM_031433.4(MFRP):c.1230C>T (p.Thr410=) rs371946990 0.00004
NM_031433.4(MFRP):c.1250C>T (p.Thr417Met) rs767672258 0.00004
NM_031433.4(MFRP):c.1365C>T (p.Ser455=) rs766909293 0.00004
NM_031433.4(MFRP):c.1615C>T (p.Arg539Cys) rs374823079 0.00004
NM_031433.4(MFRP):c.190C>T (p.Arg64Cys) rs147490836 0.00004
NM_031433.4(MFRP):c.201G>A (p.Trp67Ter) rs150232843 0.00004
NM_031433.4(MFRP):c.271+10C>T rs554865241 0.00004
NM_031433.4(MFRP):c.321C>T (p.Ala107=) rs562580805 0.00004
NM_031433.4(MFRP):c.452C>A (p.Pro151Gln) rs200291895 0.00004
NM_031433.4(MFRP):c.453A>C (p.Pro151=) rs776144292 0.00004
NM_031433.4(MFRP):c.511G>A (p.Val171Met) rs372117205 0.00004
NM_031433.4(MFRP):c.596T>C (p.Phe199Ser) rs150822576 0.00004
NM_031433.4(MFRP):c.601C>T (p.Arg201Cys) rs750045130 0.00004
NM_031433.4(MFRP):c.641+20G>A rs374976891 0.00004
NM_031433.4(MFRP):c.772G>A (p.Gly258Arg) rs778144527 0.00004
NM_031433.4(MFRP):c.896C>T (p.Ser299Leu) rs143680329 0.00004
NM_031433.4(MFRP):c.975+8C>G rs190648435 0.00004
NM_031433.4(MFRP):c.999G>A (p.Val333=) rs775245313 0.00004
NM_001278431.2(C1QTNF5):c.432C>G (p.Thr144=) rs376231714 0.00003
NM_001278431.2(C1QTNF5):c.540G>A (p.Gln180=) rs747647680 0.00003
NM_001278431.2(C1QTNF5):c.644T>C (p.Ile215Thr) rs779732274 0.00003
NM_001278431.2(C1QTNF5):c.6G>C (p.Arg2Ser) rs766972313 0.00003
NM_031433.4(MFRP):c.1057G>A (p.Glu353Lys) rs563717527 0.00003
NM_031433.4(MFRP):c.1073A>G (p.Tyr358Cys) rs199657714 0.00003
NM_031433.4(MFRP):c.1090_1091del (p.Thr364fs) rs763385432 0.00003
NM_031433.4(MFRP):c.1103G>A (p.Gly368Glu) rs1424939913 0.00003
NM_031433.4(MFRP):c.1155C>T (p.Leu385=) rs756339504 0.00003
NM_031433.4(MFRP):c.1371C>G (p.Pro457=) rs766197375 0.00003
NM_031433.4(MFRP):c.1461C>A (p.Ile487=) rs202139926 0.00003
NM_031433.4(MFRP):c.1506C>T (p.Ser502=) rs773497972 0.00003
NM_031433.4(MFRP):c.1507G>A (p.Gly503Ser) rs770293747 0.00003
NM_031433.4(MFRP):c.1550G>A (p.Arg517Gln) rs767870051 0.00003
NM_031433.4(MFRP):c.272-9C>T rs376343663 0.00003
NM_031433.4(MFRP):c.506A>G (p.His169Arg) rs745894130 0.00003
NM_031433.4(MFRP):c.616C>T (p.Pro206Ser) rs776478874 0.00003
NM_031433.4(MFRP):c.643G>A (p.Val215Ile) rs1194944071 0.00003
NM_031433.4(MFRP):c.668C>T (p.Thr223Met) rs368844563 0.00003
NM_031433.4(MFRP):c.688C>T (p.His230Tyr) rs763646029 0.00003
NM_031433.4(MFRP):c.773-16T>C rs369657196 0.00003
NM_031433.4(MFRP):c.807G>A (p.Gln269=) rs371537663 0.00003
NM_031433.4(MFRP):c.85G>A (p.Glu29Lys) rs771256990 0.00003
NM_001278431.2(C1QTNF5):c.192G>A (p.Glu64=) rs1362086939 0.00002
NM_001278431.2(C1QTNF5):c.211C>G (p.Pro71Ala) rs1450356844 0.00002
NM_001278431.2(C1QTNF5):c.394G>A (p.Glu132Lys) rs751401877 0.00002
NM_031433.4(MFRP):c.1010A>G (p.His337Arg) rs773410101 0.00002
NM_031433.4(MFRP):c.1124+11C>G rs199473709 0.00002
NM_031433.4(MFRP):c.1148C>G (p.Pro383Arg) rs758398734 0.00002
NM_031433.4(MFRP):c.1156G>A (p.Val386Ile) rs750070481 0.00002
NM_031433.4(MFRP):c.1242C>T (p.Phe414=) rs1313013945 0.00002
NM_031433.4(MFRP):c.1326G>A (p.Met442Ile) rs1445324308 0.00002
NM_031433.4(MFRP):c.1342G>A (p.Asp448Asn) rs142846614 0.00002
NM_031433.4(MFRP):c.1408C>T (p.Gln470Ter) rs985358609 0.00002
NM_031433.4(MFRP):c.1567C>G (p.Leu523Val) rs1249804894 0.00002
NM_031433.4(MFRP):c.158-4G>A rs560861324 0.00002
NM_031433.4(MFRP):c.1580G>A (p.Arg527His) rs755868612 0.00002
NM_031433.4(MFRP):c.1631A>C (p.Glu544Ala) rs571065402 0.00002
NM_031433.4(MFRP):c.271+1G>A rs755272017 0.00002
NM_031433.4(MFRP):c.303C>T (p.Ser101=) rs530322096 0.00002
NM_031433.4(MFRP):c.405C>T (p.Gly135=) rs780717889 0.00002
NM_031433.4(MFRP):c.451C>G (p.Pro151Ala) rs770853687 0.00002
NM_031433.4(MFRP):c.559G>A (p.Glu187Lys) rs761598566 0.00002
NM_031433.4(MFRP):c.602G>A (p.Arg201His) rs141474039 0.00002
NM_031433.4(MFRP):c.78C>T (p.Phe26=) rs188844398 0.00002
NM_031433.4(MFRP):c.827A>G (p.Asp276Gly) rs1303910426 0.00002
NM_031433.4(MFRP):c.898+4C>T rs538868301 0.00002
NM_031433.4(MFRP):c.915G>A (p.Leu305=) rs376084659 0.00002
NM_031433.4(MFRP):c.941C>A (p.Thr314Asn) rs755974208 0.00002
NM_031433.4(MFRP):c.976-8T>C rs1291229832 0.00002
NM_031433.4(MFRP):c.996G>A (p.Ser332=) rs760718997 0.00002
NM_001278431.2(C1QTNF5):c.123T>C (p.His41=) rs901710460 0.00001
NM_001278431.2(C1QTNF5):c.174G>T (p.Ala58=) rs907804992 0.00001
NM_001278431.2(C1QTNF5):c.198C>T (p.Gly66=) rs932268494 0.00001
NM_001278431.2(C1QTNF5):c.215-4G>A rs376239020 0.00001
NM_001278431.2(C1QTNF5):c.215-8C>T rs747148839 0.00001
NM_001278431.2(C1QTNF5):c.238C>A (p.Pro80Thr) rs1177929329 0.00001
NM_001278431.2(C1QTNF5):c.278G>C (p.Gly93Ala) rs1464986899 0.00001
NM_001278431.2(C1QTNF5):c.285C>G (p.Ala95=) rs1187454408 0.00001
NM_001278431.2(C1QTNF5):c.297G>T (p.Ser99=) rs1565291017 0.00001
NM_001278431.2(C1QTNF5):c.306G>A (p.Pro102=) rs751346951 0.00001
NM_001278431.2(C1QTNF5):c.356C>T (p.Ser119Phe) rs1197223354 0.00001
NM_001278431.2(C1QTNF5):c.36G>C (p.Leu12=) rs534690569 0.00001
NM_001278431.2(C1QTNF5):c.415G>A (p.Val139Ile) rs368962202 0.00001
NM_001278431.2(C1QTNF5):c.420C>T (p.Thr140=) rs1228782830 0.00001
NM_001278431.2(C1QTNF5):c.481C>A (p.Arg161=) rs774880041 0.00001
NM_001278431.2(C1QTNF5):c.635G>C (p.Gly212Ala) rs1258935333 0.00001
NM_001278431.2(C1QTNF5):c.642C>T (p.Tyr214=) rs746676244 0.00001
NM_001278431.2(C1QTNF5):c.685G>A (p.Gly229Arg) rs1447464669 0.00001
NM_031433.4(MFRP):c.*1190C>T rs540768941 0.00001
NM_031433.4(MFRP):c.102C>A (p.Cys34Ter) rs1033747538 0.00001
NM_031433.4(MFRP):c.1082T>C (p.Val361Ala) rs750567143 0.00001
NM_031433.4(MFRP):c.1104G>A (p.Gly368=) rs760893187 0.00001
NM_031433.4(MFRP):c.1109T>C (p.Phe370Ser) rs1950528411 0.00001
NM_031433.4(MFRP):c.1122C>G (p.Gly374=) rs748973851 0.00001
NM_031433.4(MFRP):c.1125-6G>C rs1300290345 0.00001
NM_031433.4(MFRP):c.1125G>T (p.Arg375Ser) rs780870624 0.00001
NM_031433.4(MFRP):c.1160C>T (p.Ser387Phe) rs752919228 0.00001
NM_031433.4(MFRP):c.1239C>T (p.Ala413=) rs752871438 0.00001
NM_031433.4(MFRP):c.1255+13G>A rs776266547 0.00001
NM_031433.4(MFRP):c.1255+5G>A rs367859225 0.00001
NM_031433.4(MFRP):c.1256-8G>A rs1348703547 0.00001
NM_031433.4(MFRP):c.1297T>C (p.Cys433Arg) rs937108029 0.00001
NM_031433.4(MFRP):c.1350C>T (p.Ser450=) rs779359811 0.00001
NM_031433.4(MFRP):c.1351G>A (p.Asp451Asn) rs372817789 0.00001
NM_031433.4(MFRP):c.1352A>T (p.Asp451Val) rs774312463 0.00001
NM_031433.4(MFRP):c.1387+17T>C rs1376948791 0.00001
NM_031433.4(MFRP):c.1414G>A (p.Glu472Lys) rs779751512 0.00001
NM_031433.4(MFRP):c.143C>T (p.Pro48Leu) rs377690518 0.00001
NM_031433.4(MFRP):c.1500C>G (p.Val500=) rs763296494 0.00001
NM_031433.4(MFRP):c.1521G>A (p.Leu507=) rs1231149376 0.00001
NM_031433.4(MFRP):c.158-19C>T rs1254050551 0.00001
NM_031433.4(MFRP):c.1598G>A (p.Ser533Asn) rs1208934402 0.00001
NM_031433.4(MFRP):c.1637A>C (p.Glu546Ala) rs773902427 0.00001
NM_031433.4(MFRP):c.163C>T (p.Arg55Cys) rs727504016 0.00001
NM_031433.4(MFRP):c.1655G>T (p.Gly552Val) rs1377658453 0.00001
NM_031433.4(MFRP):c.1673C>A (p.Thr558Asn) rs1372508025 0.00001
NM_031433.4(MFRP):c.169C>T (p.Arg57Ter) rs1422497202 0.00001
NM_031433.4(MFRP):c.172G>A (p.Gly58Arg) rs1950565228 0.00001
NM_031433.4(MFRP):c.213C>T (p.Leu71=) rs879617414 0.00001
NM_031433.4(MFRP):c.219C>T (p.Leu73=) rs750924849 0.00001
NM_031433.4(MFRP):c.228G>A (p.Leu76=) rs1251159708 0.00001
NM_031433.4(MFRP):c.240G>A (p.Leu80=) rs970839210 0.00001
NM_031433.4(MFRP):c.257C>A (p.Ala86Asp) rs1450424164 0.00001
NM_031433.4(MFRP):c.271+8C>T rs776945051 0.00001
NM_031433.4(MFRP):c.271C>T (p.Gln91Ter) rs1359404443 0.00001
NM_031433.4(MFRP):c.284C>T (p.Ala95Val) rs1322173907 0.00001
NM_031433.4(MFRP):c.290C>T (p.Pro97Leu) rs199473708 0.00001
NM_031433.4(MFRP):c.322G>A (p.Gly108Arg) rs138458503 0.00001
NM_031433.4(MFRP):c.336G>A (p.Thr112=) rs377313151 0.00001
NM_031433.4(MFRP):c.344C>A (p.Thr115Asn) rs1252309448 0.00001
NM_031433.4(MFRP):c.397G>T (p.Glu133Ter) rs770341402 0.00001
NM_031433.4(MFRP):c.404G>T (p.Gly135Val) rs748646897 0.00001
NM_031433.4(MFRP):c.410G>A (p.Ser137Asn) rs200353330 0.00001
NM_031433.4(MFRP):c.436G>A (p.Gly146Ser) rs1950556299 0.00001
NM_031433.4(MFRP):c.465C>T (p.Phe155=) rs748084228 0.00001
NM_031433.4(MFRP):c.486C>T (p.Asp162=) rs1216908582 0.00001
NM_031433.4(MFRP):c.510C>T (p.Cys170=) rs201919246 0.00001
NM_031433.4(MFRP):c.523C>T (p.Gln175Ter) rs121908189 0.00001
NM_031433.4(MFRP):c.54+20G>A rs1201021099 0.00001
NM_031433.4(MFRP):c.55-8C>G rs762086812 0.00001
NM_031433.4(MFRP):c.578G>A (p.Ser193Asn) rs371531353 0.00001
NM_031433.4(MFRP):c.58G>A (p.Glu20Lys) rs529716845 0.00001
NM_031433.4(MFRP):c.617C>G (p.Pro206Arg) rs1950553083 0.00001
NM_031433.4(MFRP):c.670C>T (p.Leu224Phe) rs1383430915 0.00001
NM_031433.4(MFRP):c.69T>A (p.Asn23Lys) rs770535106 0.00001
NM_031433.4(MFRP):c.701T>C (p.Val234Ala) rs930932926 0.00001
NM_031433.4(MFRP):c.724G>A (p.Glu242Lys) rs752266854 0.00001
NM_031433.4(MFRP):c.757A>C (p.Met253Leu) rs1275281184 0.00001
NM_031433.4(MFRP):c.761C>T (p.Ala254Val) rs528492104 0.00001
NM_031433.4(MFRP):c.772+10T>C rs1169162740 0.00001
NM_031433.4(MFRP):c.772+8T>G rs747864894 0.00001
NM_031433.4(MFRP):c.785A>G (p.His262Arg) rs1423566160 0.00001
NM_031433.4(MFRP):c.794T>C (p.Phe265Ser) rs765718079 0.00001
NM_031433.4(MFRP):c.852C>T (p.Asn284=) rs781152331 0.00001
NM_031433.4(MFRP):c.853T>C (p.Cys285Arg) rs368713660 0.00001
NM_031433.4(MFRP):c.898+11G>A rs768925654 0.00001
NM_031433.4(MFRP):c.898+18G>C rs747092151 0.00001
NM_031433.4(MFRP):c.898+19G>T rs777698284 0.00001
NM_031433.4(MFRP):c.940A>G (p.Thr314Ala) rs762504499 0.00001
NM_031433.4(MFRP):c.95C>T (p.Pro32Leu) rs200325731 0.00001
NM_031433.4(MFRP):c.989A>G (p.His330Arg) rs1950530286 0.00001
NM_031433.4(MFRP):c.992T>C (p.Ile331Thr) rs756893264 0.00001
NC_000011.9:g.(?_119212238)_(119217243_?)dup
NC_000011.9:g.(?_119217150)_(119217243_?)del
NM_001278431.2(C1QTNF5):c.104C>A (p.Pro35Gln) rs2135365492
NM_001278431.2(C1QTNF5):c.109A>C (p.Thr37Pro) rs1196633355
NM_001278431.2(C1QTNF5):c.110C>T (p.Thr37Met)
NM_001278431.2(C1QTNF5):c.111G>A (p.Thr37=)
NM_001278431.2(C1QTNF5):c.132G>A (p.Gln44=)
NM_001278431.2(C1QTNF5):c.141G>A (p.Pro47=)
NM_001278431.2(C1QTNF5):c.147C>T (p.Arg49=) rs1052961133
NM_001278431.2(C1QTNF5):c.152G>C (p.Gly51Ala)
NM_001278431.2(C1QTNF5):c.152del (p.Gly51fs) rs1950488173
NM_001278431.2(C1QTNF5):c.154CGCGACGGC[1] (p.49RDG[2]) rs940468185
NM_001278431.2(C1QTNF5):c.154CGCGACGGC[3] (p.49RDG[4]) rs940468185
NM_001278431.2(C1QTNF5):c.163C>T (p.Arg55Cys) rs1040241545
NM_001278431.2(C1QTNF5):c.172G>A (p.Ala58Thr) rs2135365364
NM_001278431.2(C1QTNF5):c.17T>A (p.Val6Asp) rs1565291596
NM_001278431.2(C1QTNF5):c.194A>G (p.Lys65Arg) rs2135365318
NM_001278431.2(C1QTNF5):c.196G>A (p.Gly66Ser)
NM_001278431.2(C1QTNF5):c.204C>T (p.Gly68=) rs2135365307
NM_001278431.2(C1QTNF5):c.212C>A (p.Pro71Gln) rs554735772
NM_001278431.2(C1QTNF5):c.212C>G (p.Pro71Arg) rs554735772
NM_001278431.2(C1QTNF5):c.213G>A (p.Pro71=)
NM_001278431.2(C1QTNF5):c.213G>C (p.Pro71=)
NM_001278431.2(C1QTNF5):c.214+12_214+13inv
NM_001278431.2(C1QTNF5):c.214+13C>A
NM_001278431.2(C1QTNF5):c.214+13C>G rs916580246
NM_001278431.2(C1QTNF5):c.214+13C>T rs916580246
NM_001278431.2(C1QTNF5):c.214+16C>T
NM_001278431.2(C1QTNF5):c.214+4A>G rs908260426
NM_001278431.2(C1QTNF5):c.214+6A>G rs1950486987
NM_001278431.2(C1QTNF5):c.214G>A (p.Gly72Arg)
NM_001278431.2(C1QTNF5):c.215-13G>A rs545270548
NM_001278431.2(C1QTNF5):c.215-13G>T rs545270548
NM_001278431.2(C1QTNF5):c.215-14C>T rs1306948469
NM_001278431.2(C1QTNF5):c.215-18G>C
NM_001278431.2(C1QTNF5):c.215-19C>T
NM_001278431.2(C1QTNF5):c.215-32_215-11dup rs1225205733
NM_001278431.2(C1QTNF5):c.215-3C>T rs1246824857
NM_001278431.2(C1QTNF5):c.215-7C>A
NM_001278431.2(C1QTNF5):c.215-7C>G rs1950482027
NM_001278431.2(C1QTNF5):c.215-8C>G
NM_001278431.2(C1QTNF5):c.220C>T (p.Pro74Ser)
NM_001278431.2(C1QTNF5):c.222G>A (p.Pro74=)
NM_001278431.2(C1QTNF5):c.235G>C (p.Asp79His) rs1431756047
NM_001278431.2(C1QTNF5):c.236A>G (p.Asp79Gly) rs746399664
NM_001278431.2(C1QTNF5):c.239C>G (p.Pro80Arg)
NM_001278431.2(C1QTNF5):c.240C>T (p.Pro80=) rs1950481374
NM_001278431.2(C1QTNF5):c.241G>A (p.Gly81Arg)
NM_001278431.2(C1QTNF5):c.245C>A (p.Pro82Gln) rs1324412710
NM_001278431.2(C1QTNF5):c.248G>A (p.Arg83Gln)
NM_001278431.2(C1QTNF5):c.250G>C (p.Gly84Arg) rs1950481058
NM_001278431.2(C1QTNF5):c.256_257delinsAT (p.Ala86Met) rs1950480917
NM_001278431.2(C1QTNF5):c.258G>A (p.Ala86=)
NM_001278431.2(C1QTNF5):c.25C>G (p.Leu9Val) rs1950490319
NM_001278431.2(C1QTNF5):c.262C>A (p.Pro88Thr)
NM_001278431.2(C1QTNF5):c.275C>T (p.Thr92Ile) rs2135364458
NM_001278431.2(C1QTNF5):c.276C>T (p.Thr92=)
NM_001278431.2(C1QTNF5):c.284C>A (p.Ala95Asp)
NM_001278431.2(C1QTNF5):c.285C>A (p.Ala95=)
NM_001278431.2(C1QTNF5):c.293G>T (p.Cys98Phe)
NM_001278431.2(C1QTNF5):c.302C>T (p.Pro101Leu) rs901872302
NM_001278431.2(C1QTNF5):c.304C>T (p.Pro102Ser)
NM_001278431.2(C1QTNF5):c.305C>T (p.Pro102Leu)
NM_001278431.2(C1QTNF5):c.307C>A (p.Arg103=) rs1591299580
NM_001278431.2(C1QTNF5):c.30G>C (p.Leu10=)
NM_001278431.2(C1QTNF5):c.317T>C (p.Phe106Ser) rs2135364367
NM_001278431.2(C1QTNF5):c.321C>G (p.Ser107Arg)
NM_001278431.2(C1QTNF5):c.329G>T (p.Arg110Leu)
NM_001278431.2(C1QTNF5):c.351G>A (p.Pro117=)
NM_001278431.2(C1QTNF5):c.354G>A (p.Pro118=) rs779390261
NM_001278431.2(C1QTNF5):c.354G>C (p.Pro118=)
NM_001278431.2(C1QTNF5):c.358G>A (p.Asp120Asn) rs1950478147
NM_001278431.2(C1QTNF5):c.379C>A (p.Arg127Ser)
NM_001278431.2(C1QTNF5):c.382G>C (p.Val128Leu)
NM_001278431.2(C1QTNF5):c.38C>A (p.Ala13Glu) rs1355527705
NM_001278431.2(C1QTNF5):c.390G>A (p.Val130=)
NM_001278431.2(C1QTNF5):c.397C>A (p.Gln133Lys) rs1950477064
NM_001278431.2(C1QTNF5):c.39G>A (p.Ala13=) rs1950490003
NM_001278431.2(C1QTNF5):c.411C>T (p.Asp137=)
NM_001278431.2(C1QTNF5):c.414C>T (p.Ala138=) rs2135364210
NM_001278431.2(C1QTNF5):c.449T>C (p.Val150Ala)
NM_001278431.2(C1QTNF5):c.470C>T (p.Ala157Val)
NM_001278431.2(C1QTNF5):c.489C>A (p.Ser163Arg) rs111033578
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg) rs111033578
NM_001278431.2(C1QTNF5):c.49C>T (p.Pro17Ser)
NM_001278431.2(C1QTNF5):c.503T>C (p.Leu168Pro)
NM_001278431.2(C1QTNF5):c.505G>A (p.Val169Met) rs2135364063
NM_001278431.2(C1QTNF5):c.516C>A (p.Gly172=) rs779003678
NM_001278431.2(C1QTNF5):c.539A>C (p.Gln180Pro) rs2135364045
NM_001278431.2(C1QTNF5):c.548G>A (p.Gly183Glu) rs557404721
NM_001278431.2(C1QTNF5):c.552G>A (p.Gly184=) rs199537571
NM_001278431.2(C1QTNF5):c.55C>T (p.Leu19=) rs886047820
NM_001278431.2(C1QTNF5):c.563C>T (p.Pro188Leu) rs1950474024
NM_001278431.2(C1QTNF5):c.566C>T (p.Ala189Val)
NM_001278431.2(C1QTNF5):c.576G>C (p.Ser192=) rs151230738
NM_001278431.2(C1QTNF5):c.576G>T (p.Ser192=) rs151230738
NM_001278431.2(C1QTNF5):c.583dup (p.Ala195fs) rs369839371
NM_001278431.2(C1QTNF5):c.589G>C (p.Val197Leu) rs2135363897
NM_001278431.2(C1QTNF5):c.592A>C (p.Arg198=) rs2135363894
NM_001278431.2(C1QTNF5):c.597G>A (p.Leu199=)
NM_001278431.2(C1QTNF5):c.599A>G (p.Glu200Gly) rs1591299161
NM_001278431.2(C1QTNF5):c.5G>A (p.Arg2Lys)
NM_001278431.2(C1QTNF5):c.601C>T (p.Pro201Ser)
NM_001278431.2(C1QTNF5):c.625G>A (p.Val209Met) rs770249529
NM_001278431.2(C1QTNF5):c.629G>A (p.Gly210Asp)
NM_001278431.2(C1QTNF5):c.630T>C (p.Gly210=)
NM_001278431.2(C1QTNF5):c.63CAA[1] (p.Asn22del) rs773046530
NM_001278431.2(C1QTNF5):c.648C>T (p.Gly216=)
NM_001278431.2(C1QTNF5):c.64A>G (p.Asn22Asp) rs1950489495
NM_001278431.2(C1QTNF5):c.653A>T (p.Tyr218Phe) rs758015507
NM_001278431.2(C1QTNF5):c.66C>G (p.Asn22Lys) rs761587369
NM_001278431.2(C1QTNF5):c.66C>T (p.Asn22=) rs761587369
NM_001278431.2(C1QTNF5):c.671_674del (p.Asp224fs) rs749758726
NM_001278431.2(C1QTNF5):c.703G>T (p.Asp235Tyr) rs1298660906
NM_001278431.2(C1QTNF5):c.711C>T (p.His237=)
NM_001278431.2(C1QTNF5):c.714C>T (p.Ser238=)
NM_001278431.2(C1QTNF5):c.71T>C (p.Ile24Thr)
NM_001278431.2(C1QTNF5):c.76A>G (p.Ser26Gly)
NM_001278431.2(C1QTNF5):c.7C>T (p.Pro3Ser) rs966935571
NM_001278431.2(C1QTNF5):c.87G>T (p.Pro29=) rs1256963140
NM_001278431.2(C1QTNF5):c.8C>T (p.Pro3Leu)
NM_001278431.2(C1QTNF5):c.96C>G (p.Pro32=) rs760578346
NM_031433.4(MFRP):c.1008A>G (p.Gly336=) rs762880760
NM_031433.4(MFRP):c.1015A>G (p.Ile339Val)
NM_031433.4(MFRP):c.1018G>A (p.Glu340Lys) rs777183737
NM_031433.4(MFRP):c.1025A>C (p.Gln342Pro) rs1950529608
NM_031433.4(MFRP):c.1044G>A (p.Leu348=)
NM_031433.4(MFRP):c.1061G>A (p.Cys354Tyr)
NM_031433.4(MFRP):c.1068T>C (p.Phe356=) rs2135370541
NM_031433.4(MFRP):c.1074C>T (p.Tyr358=) rs752690524
NM_031433.4(MFRP):c.1075G>A (p.Val359Met) rs759510004
NM_031433.4(MFRP):c.1078G>T (p.Glu360Ter)
NM_031433.4(MFRP):c.1090_1094del (p.Thr364fs) rs1342453275
NM_031433.4(MFRP):c.1107C>T (p.Ala369=)
NM_031433.4(MFRP):c.1114C>G (p.Leu372Val) rs201874769
NM_031433.4(MFRP):c.1124+1G>A
NM_031433.4(MFRP):c.1124+5A>G
NM_031433.4(MFRP):c.1125-14T>C rs2135369599
NM_031433.4(MFRP):c.1125-20C>T
NM_031433.4(MFRP):c.1132G>A (p.Gly378Arg)
NM_031433.4(MFRP):c.1140G>A (p.Glu380=)
NM_031433.4(MFRP):c.1144C>G (p.Pro382Ala) rs780080675
NM_031433.4(MFRP):c.1144C>T (p.Pro382Ser)
NM_031433.4(MFRP):c.1148C>T (p.Pro383Leu) rs758398734
NM_031433.4(MFRP):c.1150C>A (p.His384Asn) rs764203618
NM_031433.4(MFRP):c.1150C>G (p.His384Asp) rs764203618
NM_031433.4(MFRP):c.1150del (p.His384fs)
NM_031433.4(MFRP):c.1150dup (p.His384fs) rs587776595
NM_031433.4(MFRP):c.1163C>T (p.Ser388Leu)
NM_031433.4(MFRP):c.1164G>C (p.Ser388=) rs764605750
NM_031433.4(MFRP):c.1167C>G (p.His389Gln)
NM_031433.4(MFRP):c.1169A>C (p.His390Pro) rs529813598
NM_031433.4(MFRP):c.1176G>A (p.Leu392=) rs772644068
NM_031433.4(MFRP):c.1193C>A (p.Thr398Lys) rs368782877
NM_031433.4(MFRP):c.1212T>C (p.Ser404=)
NM_031433.4(MFRP):c.121G>C (p.Glu41Gln) rs370328104
NM_031433.4(MFRP):c.1226C>A (p.Ala409Asp)
NM_031433.4(MFRP):c.1227C>T (p.Ala409=) rs2135369420
NM_031433.4(MFRP):c.1228_1234del (p.Thr410fs)
NM_031433.4(MFRP):c.122A>G (p.Glu41Gly)
NM_031433.4(MFRP):c.1230C>A (p.Thr410=) rs371946990
NM_031433.4(MFRP):c.124G>C (p.Asp42His)
NM_031433.4(MFRP):c.1255+15G>A
NM_031433.4(MFRP):c.1255+15G>T rs373984029
NM_031433.4(MFRP):c.1255+4G>C rs1565293337
NM_031433.4(MFRP):c.1255+7G>T
NM_031433.4(MFRP):c.1256-14C>T rs2135369196
NM_031433.4(MFRP):c.1256-17G>T
NM_031433.4(MFRP):c.1256-18T>C
NM_031433.4(MFRP):c.1256-20C>T rs2135369214
NM_031433.4(MFRP):c.1263T>C (p.Cys421=) rs2135369155
NM_031433.4(MFRP):c.1267C>G (p.Pro423Ala) rs757833183
NM_031433.4(MFRP):c.1269C>T (p.Pro423=) rs2135369139
NM_031433.4(MFRP):c.1271G>C (p.Ser424Thr) rs1360212514
NM_031433.4(MFRP):c.127G>A (p.Ala43Thr) rs756504576
NM_031433.4(MFRP):c.1304G>T (p.Gly435Val) rs2135369074
NM_031433.4(MFRP):c.1333_1334del (p.Asp445fs)
NM_031433.4(MFRP):c.1334A>G (p.Asp445Gly) rs1950514318
NM_031433.4(MFRP):c.1335C>T (p.Asp445=) rs1565293135
NM_031433.4(MFRP):c.1337G>A (p.Cys446Tyr) rs2135368998
NM_031433.4(MFRP):c.1341C>T (p.Thr447=) rs574601214
NM_031433.4(MFRP):c.1362C>G (p.Cys454Trp)
NM_031433.4(MFRP):c.1367G>T (p.Gly456Val) rs2135368902
NM_031433.4(MFRP):c.137G>A (p.Ser46Asn) rs906518220
NM_031433.4(MFRP):c.1381C>A (p.Pro461Thr) rs1950513569
NM_031433.4(MFRP):c.1381C>G (p.Pro461Ala) rs1950513569
NM_031433.4(MFRP):c.1385C>G (p.Pro462Arg)
NM_031433.4(MFRP):c.1386A>T (p.Pro462=) rs2135368869
NM_031433.4(MFRP):c.1387+14C>A
NM_031433.4(MFRP):c.1388-12C>T rs1161483928
NM_031433.4(MFRP):c.1388-14C>T rs1403920624
NM_031433.4(MFRP):c.1388-19del rs2135368256
NM_031433.4(MFRP):c.1410G>A (p.Gln470=)
NM_031433.4(MFRP):c.1425C>T (p.Leu475=) rs369711800
NM_031433.4(MFRP):c.1426G>A (p.Gly476Ser)
NM_031433.4(MFRP):c.1427G>C (p.Gly476Ala)
NM_031433.4(MFRP):c.1437C>T (p.Tyr479=) rs534138745
NM_031433.4(MFRP):c.1458C>G (p.Asn486Lys)
NM_031433.4(MFRP):c.1465G>A (p.Val489Met) rs1950506856
NM_031433.4(MFRP):c.147T>C (p.Ala49=) rs2135374739
NM_031433.4(MFRP):c.1484A>C (p.Glu495Ala)
NM_031433.4(MFRP):c.1493T>C (p.Val498Ala)
NM_031433.4(MFRP):c.1506_1507del (p.Ser502fs)
NM_031433.4(MFRP):c.1508G>T (p.Gly503Val)
NM_031433.4(MFRP):c.1510T>G (p.Tyr504Asp) rs1950506256
NM_031433.4(MFRP):c.1513A>C (p.Lys505Gln)
NM_031433.4(MFRP):c.1515+13G>C
NM_031433.4(MFRP):c.1515+20G>A
NM_031433.4(MFRP):c.1529T>C (p.Leu510Pro) rs2135367861
NM_031433.4(MFRP):c.1553G>A (p.Arg518Lys) rs1054153031
NM_031433.4(MFRP):c.157+9C>A rs1353797359
NM_031433.4(MFRP):c.1578C>T (p.Pro526=)
NM_031433.4(MFRP):c.158-11C>G
NM_031433.4(MFRP):c.158-17C>T rs777983791
NM_031433.4(MFRP):c.1604T>C (p.Leu535Pro) rs2135367742
NM_031433.4(MFRP):c.160C>T (p.Arg54Trp) rs139436396
NM_031433.4(MFRP):c.1626C>T (p.Cys542=) rs764371749
NM_031433.4(MFRP):c.1634C>T (p.Ala545Val)
NM_031433.4(MFRP):c.1635G>T (p.Ala545=)
NM_031433.4(MFRP):c.1639C>T (p.His547Tyr) rs770430181
NM_031433.4(MFRP):c.1641C>A (p.His547Gln) rs1419850621
NM_031433.4(MFRP):c.165T>C (p.Arg55=) rs2135374534
NM_031433.4(MFRP):c.1666C>T (p.Leu556=) rs577487940
NM_031433.4(MFRP):c.1702C>T (p.Pro568Ser) rs1159600080
NM_031433.4(MFRP):c.170G>A (p.Arg57Gln)
NM_031433.4(MFRP):c.170G>T (p.Arg57Leu) rs746764269
NM_031433.4(MFRP):c.1718T>G (p.Leu573Arg) rs1242730294
NM_031433.4(MFRP):c.1719G>A (p.Leu573=)
NM_031433.4(MFRP):c.171A>G (p.Arg57=)
NM_031433.4(MFRP):c.1731C>G (p.Ala577=)
NM_031433.4(MFRP):c.1738T>C (p.Ter580Arg)
NM_031433.4(MFRP):c.174G>T (p.Gly58=) rs200989572
NM_031433.4(MFRP):c.179G>A (p.Arg60Gln) rs745791741
NM_031433.4(MFRP):c.181C>T (p.Pro61Ser) rs1200938861
NM_031433.4(MFRP):c.184G>A (p.Asp62Asn) rs2135374503
NM_031433.4(MFRP):c.190C>G (p.Arg64Gly) rs147490836
NM_031433.4(MFRP):c.192C>T (p.Arg64=) rs200143181
NM_031433.4(MFRP):c.194T>C (p.Phe65Ser)
NM_031433.4(MFRP):c.200G>C (p.Trp67Ser)
NM_031433.4(MFRP):c.204C>G (p.Leu68=)
NM_031433.4(MFRP):c.228G>C (p.Leu76=) rs1251159708
NM_031433.4(MFRP):c.231C>A (p.Leu77=)
NM_031433.4(MFRP):c.237G>A (p.Leu79=)
NM_031433.4(MFRP):c.255G>T (p.Val85=)
NM_031433.4(MFRP):c.266T>C (p.Leu89Pro) rs1449728111
NM_031433.4(MFRP):c.271+10C>A
NM_031433.4(MFRP):c.271+12G>A
NM_031433.4(MFRP):c.271+19C>T
NM_031433.4(MFRP):c.272-18C>T
NM_031433.4(MFRP):c.272-3C>T
NM_031433.4(MFRP):c.272-8G>A
NM_031433.4(MFRP):c.279G>A (p.Gln93=) rs2135374141
NM_031433.4(MFRP):c.279G>C (p.Gln93His)
NM_031433.4(MFRP):c.286C>A (p.Pro96Thr) rs776835313
NM_031433.4(MFRP):c.287_291del (p.Pro96fs) rs2135374097
NM_031433.4(MFRP):c.294T>A (p.Ser98=)
NM_031433.4(MFRP):c.297G>A (p.Gly99=)
NM_031433.4(MFRP):c.298del (p.Ala100fs) rs750894392
NM_031433.4(MFRP):c.299C>T (p.Ala100Val) rs1399208418
NM_031433.4(MFRP):c.300G>A (p.Ala100=) rs370696881
NM_031433.4(MFRP):c.309C>G (p.Ser103Arg) rs767087902
NM_031433.4(MFRP):c.309C>T (p.Ser103=) rs767087902
NM_031433.4(MFRP):c.313C>T (p.Leu105=) rs751425251
NM_031433.4(MFRP):c.313del (p.Leu105fs) rs2135374023
NM_031433.4(MFRP):c.314T>C (p.Leu105Pro) rs766079913
NM_031433.4(MFRP):c.321C>G (p.Ala107=)
NM_031433.4(MFRP):c.325G>T (p.Gly109Cys) rs1325594534
NM_031433.4(MFRP):c.326G>A (p.Gly109Asp) rs775861737
NM_031433.4(MFRP):c.328C>T (p.Leu110Phe)
NM_031433.4(MFRP):c.332C>A (p.Thr111Asn)
NM_031433.4(MFRP):c.335C>A (p.Thr112Lys) rs145883448
NM_031433.4(MFRP):c.337ACC[3] (p.Thr116del) rs1565295963
NM_031433.4(MFRP):c.337ACC[5] (p.Thr116_Pro117insThr)
NM_031433.4(MFRP):c.33G>A (p.Met11Ile) rs1950572265
NM_031433.4(MFRP):c.342C>T (p.Thr114=)
NM_031433.4(MFRP):c.343A>C (p.Thr115Pro)
NM_031433.4(MFRP):c.347C>A (p.Thr116Asn) rs1299599168
NM_031433.4(MFRP):c.348C>G (p.Thr116=)
NM_031433.4(MFRP):c.349C>A (p.Pro117Thr)
NM_031433.4(MFRP):c.353C>T (p.Thr118Ile)
NM_031433.4(MFRP):c.364T>C (p.Ser122Pro)
NM_031433.4(MFRP):c.365C>T (p.Ser122Phe)
NM_031433.4(MFRP):c.371C>T (p.Ala124Val)
NM_031433.4(MFRP):c.372A>G (p.Ala124=)
NM_031433.4(MFRP):c.381C>T (p.Thr127=)
NM_031433.4(MFRP):c.385A>C (p.Lys129Gln)
NM_031433.4(MFRP):c.427+14G>T
NM_031433.4(MFRP):c.427+18A>T
NM_031433.4(MFRP):c.428-10A>T rs2135373680
NM_031433.4(MFRP):c.428-17A>G
NM_031433.4(MFRP):c.428-19C>G
NM_031433.4(MFRP):c.428-2A>G rs986503217
NM_031433.4(MFRP):c.429C>T (p.Thr143=)
NM_031433.4(MFRP):c.431_443dup (p.Ser149fs) rs2135373641
NM_031433.4(MFRP):c.437G>A (p.Gly146Asp) rs2135373654
NM_031433.4(MFRP):c.441C>T (p.Leu147=) rs774932318
NM_031433.4(MFRP):c.443T>C (p.Leu148Pro)
NM_031433.4(MFRP):c.443T>G (p.Leu148Arg)
NM_031433.4(MFRP):c.444C>G (p.Leu148=)
NM_031433.4(MFRP):c.444C>T (p.Leu148=)
NM_031433.4(MFRP):c.452C>T (p.Pro151Leu)
NM_031433.4(MFRP):c.457G>A (p.Gly153Ser) rs1044008594
NM_031433.4(MFRP):c.465C>A (p.Phe155Leu)
NM_031433.4(MFRP):c.475A>G (p.Asn159Asp)
NM_031433.4(MFRP):c.47C>T (p.Ser16Leu)
NM_031433.4(MFRP):c.483A>G (p.Pro161=)
NM_031433.4(MFRP):c.492_493delinsTG (p.Pro165Ala)
NM_031433.4(MFRP):c.493C>G (p.Pro165Ala)
NM_031433.4(MFRP):c.493C>T (p.Pro165Ser) rs201553042
NM_031433.4(MFRP):c.496C>A (p.Pro166Thr) rs145285193
NM_031433.4(MFRP):c.496C>G (p.Pro166Ala) rs145285193
NM_031433.4(MFRP):c.496C>T (p.Pro166Ser) rs145285193
NM_031433.4(MFRP):c.497C>A (p.Pro166His) rs200251814
NM_031433.4(MFRP):c.497C>G (p.Pro166Arg) rs200251814
NM_031433.4(MFRP):c.497C>T (p.Pro166Leu) rs200251814
NM_031433.4(MFRP):c.498C>G (p.Pro166=)
NM_031433.4(MFRP):c.498del (p.Asn167fs) rs587776596
NM_031433.4(MFRP):c.498dup (p.Asn167fs) rs587776596
NM_031433.4(MFRP):c.499_500dup (p.Asn167fs)
NM_031433.4(MFRP):c.500del (p.Asn167fs)
NM_031433.4(MFRP):c.504C>T (p.Thr168=)
NM_031433.4(MFRP):c.513G>A (p.Val171=)
NM_031433.4(MFRP):c.527T>G (p.Val176Gly)
NM_031433.4(MFRP):c.54+9C>T
NM_031433.4(MFRP):c.540_541delinsCT (p.Ala181Ser) rs2135373446
NM_031433.4(MFRP):c.540_541inv (p.Ala181Thr)
NM_031433.4(MFRP):c.542C>T (p.Ala181Val) rs2135373435
NM_031433.4(MFRP):c.543A>C (p.Ala181=) rs765954024
NM_031433.4(MFRP):c.545T>A (p.Ile182Lys) rs121908190
NM_031433.4(MFRP):c.548A>G (p.Gln183Arg)
NM_031433.4(MFRP):c.55-17_55-15dup rs143351376
NM_031433.4(MFRP):c.55-8C>A rs762086812
NM_031433.4(MFRP):c.551T>G (p.Leu184Arg) rs1950554178
NM_031433.4(MFRP):c.558C>T (p.Ile186=)
NM_031433.4(MFRP):c.566T>C (p.Leu189Pro) rs2135373384
NM_031433.4(MFRP):c.570C>G (p.Ser190Arg)
NM_031433.4(MFRP):c.577_578del (p.Ser193fs)
NM_031433.4(MFRP):c.57C>A (p.Thr19=) rs368205663
NM_031433.4(MFRP):c.57C>G (p.Thr19=) rs368205663
NM_031433.4(MFRP):c.582G>A (p.Val194=)
NM_031433.4(MFRP):c.583G>A (p.Ala195Thr) rs886047833
NM_031433.4(MFRP):c.587C>T (p.Ser196Phe)
NM_031433.4(MFRP):c.601C>A (p.Arg201Ser) rs750045130
NM_031433.4(MFRP):c.612C>T (p.Leu204=)
NM_031433.4(MFRP):c.618T>G (p.Pro206=)
NM_031433.4(MFRP):c.622C>G (p.Pro208Ala)
NM_031433.4(MFRP):c.629G>A (p.Gly210Asp) rs150902999
NM_031433.4(MFRP):c.629del (p.Gly210fs) rs1565295426
NM_031433.4(MFRP):c.630C>G (p.Gly210=) rs749323383
NM_031433.4(MFRP):c.630C>T (p.Gly210=)
NM_031433.4(MFRP):c.640A>T (p.Arg214Trp)
NM_031433.4(MFRP):c.641+11C>T
NM_031433.4(MFRP):c.641+14dup
NM_031433.4(MFRP):c.641+17C>G
NM_031433.4(MFRP):c.641+19A>C rs2135373201
NM_031433.4(MFRP):c.641+1G>A rs1226217440
NM_031433.4(MFRP):c.641+8C>T
NM_031433.4(MFRP):c.642-11G>C rs1591305784
NM_031433.4(MFRP):c.642-15C>A rs780265379
NM_031433.4(MFRP):c.642-18C>A rs1461541119
NM_031433.4(MFRP):c.642-18del
NM_031433.4(MFRP):c.642-19C>G
NM_031433.4(MFRP):c.642-20C>G
NM_031433.4(MFRP):c.642-20C>T
NM_031433.4(MFRP):c.647G>A (p.Cys216Tyr) rs778538964
NM_031433.4(MFRP):c.650G>A (p.Gly217Glu)
NM_031433.4(MFRP):c.657G>T (p.Val219=)
NM_031433.4(MFRP):c.661C>A (p.Pro221Thr)
NM_031433.4(MFRP):c.662_663insT (p.Thr223fs)
NM_031433.4(MFRP):c.663C>T (p.Pro221=)
NM_031433.4(MFRP):c.665C>T (p.Pro222Leu)
NM_031433.4(MFRP):c.666C>A (p.Pro222=) rs765386106
NM_031433.4(MFRP):c.666C>G (p.Pro222=) rs765386106
NM_031433.4(MFRP):c.666C>T (p.Pro222=)
NM_031433.4(MFRP):c.666del (p.Thr223fs) rs1435204327
NM_031433.4(MFRP):c.694C>T (p.Leu232=) rs746412252
NM_031433.4(MFRP):c.696G>C (p.Leu232=)
NM_031433.4(MFRP):c.717C>T (p.Ser239=)
NM_031433.4(MFRP):c.728G>A (p.Gly243Glu) rs751515203
NM_031433.4(MFRP):c.746G>A (p.Trp249Ter) rs786205471
NM_031433.4(MFRP):c.758T>C (p.Met253Thr)
NM_031433.4(MFRP):c.772+11T>C
NM_031433.4(MFRP):c.772+14_772+15delinsAT rs2135372407
NM_031433.4(MFRP):c.772+15A>G
NM_031433.4(MFRP):c.772+2T>G rs901701142
NM_031433.4(MFRP):c.773-17C>G
NM_031433.4(MFRP):c.773-1G>C rs1357854800
NM_031433.4(MFRP):c.781G>A (p.Ala261Thr)
NM_031433.4(MFRP):c.782C>T (p.Ala261Val) rs1950542166
NM_031433.4(MFRP):c.79G>A (p.Glu27Lys) rs374815208
NM_031433.4(MFRP):c.79G>C (p.Glu27Gln)
NM_031433.4(MFRP):c.822A>G (p.Leu274=) rs1950541640
NM_031433.4(MFRP):c.828C>T (p.Asp276=) rs745601323
NM_031433.4(MFRP):c.840T>C (p.Asp280=)
NM_031433.4(MFRP):c.842G>C (p.Gly281Ala)
NM_031433.4(MFRP):c.843T>G (p.Gly281=)
NM_031433.4(MFRP):c.848C>T (p.Ala283Val) rs2135372104
NM_031433.4(MFRP):c.851A>G (p.Asn284Ser)
NM_031433.4(MFRP):c.855T>A (p.Cys285Ter) rs1243587288
NM_031433.4(MFRP):c.862G>A (p.Gly288Ser)
NM_031433.4(MFRP):c.870T>G (p.Asp290Glu) rs2135372068
NM_031433.4(MFRP):c.871G>A (p.Glu291Lys) rs2135372066
NM_031433.4(MFRP):c.87G>A (p.Glu29=) rs2135374803
NM_031433.4(MFRP):c.880T>C (p.Cys294Arg) rs1950540925
NM_031433.4(MFRP):c.898+15T>C rs745513112
NM_031433.4(MFRP):c.898+17G>A
NM_031433.4(MFRP):c.898+18G>A
NM_031433.4(MFRP):c.898+19G>C
NM_031433.4(MFRP):c.898+20G>T
NM_031433.4(MFRP):c.898+7G>A
NM_031433.4(MFRP):c.898+7G>T
NM_031433.4(MFRP):c.898+9C>G rs2135372011
NM_031433.4(MFRP):c.899-12A>G rs2135371581
NM_031433.4(MFRP):c.899-15del rs772995779
NM_031433.4(MFRP):c.899-4A>G rs2135371573
NM_031433.4(MFRP):c.901T>C (p.Cys301Arg)
NM_031433.4(MFRP):c.909G>A (p.Gly303=) rs777996384
NM_031433.4(MFRP):c.909G>C (p.Gly303=) rs777996384
NM_031433.4(MFRP):c.909dup (p.Asn304fs)
NM_031433.4(MFRP):c.921C>G (p.Gly307=)
NM_031433.4(MFRP):c.921C>T (p.Gly307=) rs767165696
NM_031433.4(MFRP):c.932C>T (p.Thr311Ile) rs1950536085
NM_031433.4(MFRP):c.955C>T (p.Gln319Ter) rs1555037395
NM_031433.4(MFRP):c.956A>C (p.Gln319Pro)
NM_031433.4(MFRP):c.959A>G (p.Gln320Arg)
NM_031433.4(MFRP):c.960G>A (p.Gln320=)
NM_031433.4(MFRP):c.968A>G (p.His323Arg) rs1023012645
NM_031433.4(MFRP):c.972A>G (p.Gln324=) rs896038961
NM_031433.4(MFRP):c.975+12G>C
NM_031433.4(MFRP):c.976-10C>T rs2135370768
NM_031433.4(MFRP):c.976-12G>A rs1208300619
NM_031433.4(MFRP):c.976-3C>G rs2135370756
NM_031433.4(MFRP):c.976-4C>G
NM_031433.4(MFRP):c.976-7C>T
NM_031433.4(MFRP):c.987G>A (p.Trp329Ter) rs1166512859
NM_031433.4(MFRP):c.993C>T (p.Ile331=)
NM_031433.4(MFRP):c.997G>A (p.Val333Met)
NM_031433.4(MFRP):c.9C>T (p.Asp3=)

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