ClinVar Miner

List of variants in gene COG7 studied for COG7 congenital disorder of glycosylation

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Gene type:
ClinVar version:
Total variants: 434
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HGVS dbSNP gnomAD frequency
NM_153603.4(COG7):c.*187A>G rs250588 0.31336
NM_153603.4(COG7):c.*47C>T rs250587 0.21224
NM_153603.4(COG7):c.2103T>C (p.Pro701=) rs8057712 0.08996
NM_153603.4(COG7):c.1814C>T (p.Thr605Met) rs16940094 0.07234
NM_153603.4(COG7):c.*9C>A rs139833665 0.00885
NM_153603.4(COG7):c.534G>A (p.Glu178=) rs80204521 0.00330
NM_153603.4(COG7):c.1178A>G (p.His393Arg) rs116331296 0.00222
NM_153603.4(COG7):c.*30C>G rs200982091 0.00171
NM_153603.4(COG7):c.1971C>T (p.His657=) rs114458562 0.00156
NM_153603.4(COG7):c.2283C>T (p.Thr761=) rs144814374 0.00150
NM_153603.4(COG7):c.1137+11A>C rs74012174 0.00124
NM_153603.4(COG7):c.810+6del rs150104389 0.00123
NM_153603.4(COG7):c.567T>C (p.Ser189=) rs115543944 0.00101
NM_153603.4(COG7):c.900C>T (p.Asn300=) rs112611398 0.00091
NM_153603.4(COG7):c.1888-17G>A rs112887835 0.00088
NM_153603.4(COG7):c.850A>T (p.Ile284Phe) rs115605801 0.00088
NM_153603.4(COG7):c.1113C>T (p.Leu371=) rs114661874 0.00078
NM_153603.4(COG7):c.319-12C>T rs201965984 0.00077
NM_153603.4(COG7):c.1718G>A (p.Arg573Gln) rs143639857 0.00076
NM_153603.4(COG7):c.1137+8C>T rs75523257 0.00075
NM_153603.4(COG7):c.1455C>T (p.Phe485=) rs116153163 0.00068
NM_153603.4(COG7):c.1852G>A (p.Ala618Thr) rs145412851 0.00065
NM_153603.4(COG7):c.2052G>A (p.Ser684=) rs142744907 0.00060
NM_153603.4(COG7):c.406G>A (p.Ala136Thr) rs149163316 0.00060
NM_153603.4(COG7):c.523G>T (p.Val175Leu) rs116645835 0.00042
NM_153603.4(COG7):c.319-18C>A rs370957274 0.00041
NM_153603.4(COG7):c.835G>A (p.Val279Ile) rs367796897 0.00039
NM_153603.4(COG7):c.405C>T (p.Ser135=) rs143571247 0.00028
NM_153603.4(COG7):c.360T>G (p.Leu120=) rs563111337 0.00027
NM_153603.4(COG7):c.2192G>A (p.Arg731His) rs149289920 0.00024
NM_153603.4(COG7):c.435+2T>C rs201446992 0.00022
NM_153603.4(COG7):c.1972G>A (p.Ala658Thr) rs115073082 0.00020
NM_153603.4(COG7):c.1410-17C>A rs373102854 0.00019
NM_153603.4(COG7):c.811-14C>G rs545654100 0.00016
NM_153603.4(COG7):c.170-20T>C rs760817103 0.00015
NM_153603.4(COG7):c.904G>A (p.Val302Met) rs116314856 0.00015
NM_153603.4(COG7):c.1499A>G (p.Tyr500Cys) rs146603761 0.00014
NM_153603.4(COG7):c.170-4A>G rs544015151 0.00014
NM_153603.4(COG7):c.1227C>T (p.Cys409=) rs753240981 0.00013
NM_153603.4(COG7):c.938G>A (p.Arg313Lys) rs116061107 0.00013
NM_153603.4(COG7):c.*193G>A rs191591988 0.00012
NM_153603.4(COG7):c.2013G>A (p.Leu671=) rs370447404 0.00012
NM_153603.4(COG7):c.525G>A (p.Val175=) rs144180834 0.00011
NM_153603.4(COG7):c.954C>T (p.Tyr318=) rs752563691 0.00011
NM_153603.4(COG7):c.1205C>T (p.Ala402Val) rs149533590 0.00010
NM_153603.4(COG7):c.2087C>T (p.Ala696Val) rs376170815 0.00010
NM_153603.4(COG7):c.754G>A (p.Gly252Arg) rs766287686 0.00010
NM_153603.4(COG7):c.1822A>G (p.Ile608Val) rs115813844 0.00009
NM_153603.4(COG7):c.1206G>A (p.Ala402=) rs777152433 0.00008
NM_153603.4(COG7):c.1228G>A (p.Val410Ile) rs199799595 0.00008
NM_153603.4(COG7):c.2147-11C>T rs371248336 0.00008
NM_153603.4(COG7):c.2213C>T (p.Thr738Met) rs376359015 0.00008
NM_153603.4(COG7):c.581C>T (p.Ala194Val) rs557121999 0.00008
NM_153603.4(COG7):c.882G>A (p.Leu294=) rs368339990 0.00008
NM_153603.4(COG7):c.921C>T (p.Pro307=) rs115610955 0.00008
NM_153603.4(COG7):c.972C>T (p.Phe324=) rs747262700 0.00008
NM_153603.4(COG7):c.973G>A (p.Ala325Thr) rs116804305 0.00008
NM_153603.4(COG7):c.1264T>C (p.Leu422=) rs765230344 0.00007
NM_153603.4(COG7):c.1410-17dup rs775141722 0.00007
NM_153603.4(COG7):c.1646T>C (p.Ile549Thr) rs140625370 0.00007
NM_153603.4(COG7):c.2064C>T (p.Ala688=) rs375870009 0.00007
NM_153603.4(COG7):c.241T>G (p.Ser81Ala) rs778408190 0.00007
NM_153603.4(COG7):c.436-9C>G rs146818767 0.00007
NM_153603.4(COG7):c.1476-3C>T rs551490261 0.00006
NM_153603.4(COG7):c.1948T>C (p.Ser650Pro) rs761925269 0.00006
NM_153603.4(COG7):c.2297G>A (p.Arg766Gln) rs368136642 0.00006
NM_153603.4(COG7):c.1293-6C>T rs770617869 0.00005
NM_153603.4(COG7):c.1409+6C>G rs371897770 0.00005
NM_153603.4(COG7):c.1475+4G>A rs372160869 0.00005
NM_153603.4(COG7):c.1824C>T (p.Ile608=) rs562948451 0.00005
NM_153603.4(COG7):c.1851C>T (p.Pro617=) rs748835759 0.00005
NM_153603.4(COG7):c.1888-18C>T rs202123984 0.00005
NM_153603.4(COG7):c.955G>A (p.Asp319Asn) rs767025710 0.00005
NM_153603.4(COG7):c.1000C>T (p.Pro334Ser) rs373631927 0.00004
NM_153603.4(COG7):c.1137+9G>A rs746762111 0.00004
NM_153603.4(COG7):c.1292+12G>A rs549713733 0.00004
NM_153603.4(COG7):c.1388C>T (p.Thr463Met) rs764153683 0.00004
NM_153603.4(COG7):c.1401C>G (p.Asn467Lys) rs757733010 0.00004
NM_153603.4(COG7):c.1529T>C (p.Leu510Pro) rs202221877 0.00004
NM_153603.4(COG7):c.1834C>T (p.Leu612Phe) rs756688485 0.00004
NM_153603.4(COG7):c.1973C>G (p.Ala658Gly) rs770639224 0.00004
NM_153603.4(COG7):c.1981C>T (p.Leu661=) rs368520902 0.00004
NM_153603.4(COG7):c.399G>A (p.Thr133=) rs544517337 0.00004
NM_153603.4(COG7):c.687+16C>T rs373095194 0.00004
NM_153603.4(COG7):c.687+7A>C rs199964250 0.00004
NM_153603.4(COG7):c.963C>T (p.Thr321=) rs762510375 0.00004
NM_153603.4(COG7):c.1167G>A (p.Gln389=) rs201313774 0.00003
NM_153603.4(COG7):c.1257C>T (p.Cys419=) rs766573880 0.00003
NM_153603.4(COG7):c.1292+17G>A rs770550607 0.00003
NM_153603.4(COG7):c.1330C>T (p.Arg444Ter) rs780863769 0.00003
NM_153603.4(COG7):c.1389G>A (p.Thr463=) rs760865997 0.00003
NM_153603.4(COG7):c.1409+15G>A rs928852966 0.00003
NM_153603.4(COG7):c.1409+8G>A rs776496345 0.00003
NM_153603.4(COG7):c.1410-6G>C rs369925503 0.00003
NM_153603.4(COG7):c.1494G>A (p.Gly498=) rs747127267 0.00003
NM_153603.4(COG7):c.1563G>C (p.Lys521Asn) rs773660021 0.00003
NM_153603.4(COG7):c.1577A>G (p.Lys526Arg) rs376579040 0.00003
NM_153603.4(COG7):c.1629T>C (p.Tyr543=) rs760342154 0.00003
NM_153603.4(COG7):c.1710G>A (p.Ala570=) rs373689142 0.00003
NM_153603.4(COG7):c.1803C>T (p.Asp601=) rs1039295104 0.00003
NM_153603.4(COG7):c.1804-13G>A rs759680428 0.00003
NM_153603.4(COG7):c.1872C>T (p.Leu624=) rs753044713 0.00003
NM_153603.4(COG7):c.1914C>T (p.Pro638=) rs111414595 0.00003
NM_153603.4(COG7):c.2068A>G (p.Met690Val) rs141629916 0.00003
NM_153603.4(COG7):c.211C>T (p.Arg71Cys) rs771889882 0.00003
NM_153603.4(COG7):c.2131C>T (p.Leu711=) rs751492352 0.00003
NM_153603.4(COG7):c.2266C>T (p.Arg756Cys) rs199984825 0.00003
NM_153603.4(COG7):c.2269C>T (p.Arg757Cys) rs576601689 0.00003
NM_153603.4(COG7):c.2296C>T (p.Arg766Trp) rs112011340 0.00003
NM_153603.4(COG7):c.386A>G (p.Asp129Gly) rs150979217 0.00003
NM_153603.4(COG7):c.408C>T (p.Ala136=) rs780107141 0.00003
NM_153603.4(COG7):c.564C>T (p.Ala188=) rs774689841 0.00003
NM_153603.4(COG7):c.668A>T (p.Tyr223Phe) rs377542270 0.00003
NM_153603.4(COG7):c.687+14C>T rs139853094 0.00003
NM_153603.4(COG7):c.743G>A (p.Arg248Gln) rs376638075 0.00003
NM_153603.4(COG7):c.828C>T (p.His276=) rs745431635 0.00003
NM_153603.4(COG7):c.838A>G (p.Met280Val) rs778121380 0.00003
NM_153603.4(COG7):c.1293-5G>A rs371389811 0.00002
NM_153603.4(COG7):c.1405A>G (p.Ile469Val) rs751036976 0.00002
NM_153603.4(COG7):c.1445G>A (p.Cys482Tyr) rs376426601 0.00002
NM_153603.4(COG7):c.1456G>A (p.Glu486Lys) rs781068033 0.00002
NM_153603.4(COG7):c.1482G>T (p.Leu494Phe) rs376358218 0.00002
NM_153603.4(COG7):c.1709C>T (p.Ala570Val) rs747918109 0.00002
NM_153603.4(COG7):c.173C>G (p.Thr58Arg) rs866875812 0.00002
NM_153603.4(COG7):c.1815G>A (p.Thr605=) rs115624763 0.00002
NM_153603.4(COG7):c.2267G>A (p.Arg756His) rs765513149 0.00002
NM_153603.4(COG7):c.319-11G>A rs374601516 0.00002
NM_153603.4(COG7):c.319-19C>T rs376351957 0.00002
NM_153603.4(COG7):c.319G>A (p.Val107Met) rs550355383 0.00002
NM_153603.4(COG7):c.422C>T (p.Thr141Ile) rs201316574 0.00002
NM_153603.4(COG7):c.605-17C>T rs376920945 0.00002
NM_153603.4(COG7):c.753C>T (p.Thr251=) rs775575688 0.00002
NM_153603.4(COG7):c.829G>A (p.Glu277Lys) rs757810496 0.00002
NM_153603.4(COG7):c.922G>A (p.Glu308Lys) rs758616225 0.00002
NM_153603.4(COG7):c.957C>T (p.Asp319=) rs759237979 0.00002
NM_153603.4(COG7):c.1009+14C>T rs762420011 0.00001
NM_153603.4(COG7):c.1009+15C>T rs1014800691 0.00001
NM_153603.4(COG7):c.1009C>T (p.His337Tyr) rs766070661 0.00001
NM_153603.4(COG7):c.1010-19C>T rs748110576 0.00001
NM_153603.4(COG7):c.1035G>A (p.Thr345=) rs751396156 0.00001
NM_153603.4(COG7):c.1053G>A (p.Val351=) rs765976652 0.00001
NM_153603.4(COG7):c.1056T>G (p.Tyr352Ter) rs1351862780 0.00001
NM_153603.4(COG7):c.1093A>G (p.Met365Val) rs1186888889 0.00001
NM_153603.4(COG7):c.1138-4C>A rs369124305 0.00001
NM_153603.4(COG7):c.1182C>T (p.Ser394=) rs778585982 0.00001
NM_153603.4(COG7):c.1183G>A (p.Val395Met) rs369307885 0.00001
NM_153603.4(COG7):c.1200T>A (p.Gly400=) rs1162851666 0.00001
NM_153603.4(COG7):c.1241A>G (p.Asn414Ser) rs759949604 0.00001
NM_153603.4(COG7):c.1259G>C (p.Gly420Ala) rs773279166 0.00001
NM_153603.4(COG7):c.1281C>T (p.Ser427=) rs1473225475 0.00001
NM_153603.4(COG7):c.1307T>G (p.Phe436Cys) rs367733325 0.00001
NM_153603.4(COG7):c.1438C>T (p.Arg480Trp) rs768397627 0.00001
NM_153603.4(COG7):c.1475+11G>A rs777930529 0.00001
NM_153603.4(COG7):c.1498dup (p.Tyr500fs) rs1963459711 0.00001
NM_153603.4(COG7):c.1522C>T (p.Arg508Trp) rs140305461 0.00001
NM_153603.4(COG7):c.1524G>A (p.Arg508=) rs767115740 0.00001
NM_153603.4(COG7):c.1532C>G (p.Ala511Gly) rs766815684 0.00001
NM_153603.4(COG7):c.1623T>A (p.Ala541=) rs1963456657 0.00001
NM_153603.4(COG7):c.1645A>G (p.Ile549Val) rs1176951375 0.00001
NM_153603.4(COG7):c.1657C>A (p.Leu553Ile) rs1013455293 0.00001
NM_153603.4(COG7):c.170-7A>G rs1555496968 0.00001
NM_153603.4(COG7):c.1703G>A (p.Arg568Gln) rs961127814 0.00001
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp) rs548129734 0.00001
NM_153603.4(COG7):c.177T>G (p.Ser59Arg) rs899529052 0.00001
NM_153603.4(COG7):c.1793C>T (p.Ser598Leu) rs754431741 0.00001
NM_153603.4(COG7):c.1794G>A (p.Ser598=) rs764536173 0.00001
NM_153603.4(COG7):c.1817C>A (p.Ala606Asp) rs768615420 0.00001
NM_153603.4(COG7):c.1820G>C (p.Gly607Ala) rs1444115658 0.00001
NM_153603.4(COG7):c.1825G>A (p.Gly609Arg) rs369854088 0.00001
NM_153603.4(COG7):c.1826G>A (p.Gly609Glu) rs1963314080 0.00001
NM_153603.4(COG7):c.1873G>A (p.Glu625Lys) rs150027511 0.00001
NM_153603.4(COG7):c.1920T>C (p.Asn640=) rs1333336732 0.00001
NM_153603.4(COG7):c.1947C>T (p.Asp649=) rs765301112 0.00001
NM_153603.4(COG7):c.1970A>G (p.His657Arg) rs767518060 0.00001
NM_153603.4(COG7):c.1978A>G (p.Lys660Glu) rs2506544160 0.00001
NM_153603.4(COG7):c.1986A>G (p.Pro662=) rs1275768025 0.00001
NM_153603.4(COG7):c.2002+18C>T rs750617340 0.00001
NM_153603.4(COG7):c.2002+7G>A rs367734393 0.00001
NM_153603.4(COG7):c.2003-3C>T rs201032528 0.00001
NM_153603.4(COG7):c.2016C>T (p.Pro672=) rs769602942 0.00001
NM_153603.4(COG7):c.2056G>A (p.Ala686Thr) rs140441189 0.00001
NM_153603.4(COG7):c.2067A>G (p.Thr689=) rs147138599 0.00001
NM_153603.4(COG7):c.2094A>G (p.Leu698=) rs777903380 0.00001
NM_153603.4(COG7):c.2106G>C (p.Glu702Asp) rs1366920728 0.00001
NM_153603.4(COG7):c.2146+4G>C rs750266735 0.00001
NM_153603.4(COG7):c.2146+8C>T rs764926770 0.00001
NM_153603.4(COG7):c.2147-10G>A rs368816921 0.00001
NM_153603.4(COG7):c.2147-9C>T rs1448513281 0.00001
NM_153603.4(COG7):c.2153T>C (p.Leu718Pro) rs1330049754 0.00001
NM_153603.4(COG7):c.2160C>T (p.Asn720=) rs777423500 0.00001
NM_153603.4(COG7):c.2161G>A (p.Val721Met) rs1208806833 0.00001
NM_153603.4(COG7):c.2187G>A (p.Pro729=) rs759094324 0.00001
NM_153603.4(COG7):c.2208C>T (p.Ile736=) rs762124832 0.00001
NM_153603.4(COG7):c.2209G>A (p.Val737Met) rs777056912 0.00001
NM_153603.4(COG7):c.2243G>A (p.Arg748Lys) rs755971918 0.00001
NM_153603.4(COG7):c.2291C>T (p.Thr764Ile) rs1299896596 0.00001
NM_153603.4(COG7):c.2292C>G (p.Thr764=) rs114918337 0.00001
NM_153603.4(COG7):c.229A>G (p.Lys77Glu) rs757722545 0.00001
NM_153603.4(COG7):c.2302G>A (p.Val768Met) rs754629845 0.00001
NM_153603.4(COG7):c.2304G>A (p.Val768=) rs1218532996 0.00001
NM_153603.4(COG7):c.318+1G>A rs945537370 0.00001
NM_153603.4(COG7):c.319-14C>T rs756656603 0.00001
NM_153603.4(COG7):c.336C>T (p.Asp112=) rs1389855996 0.00001
NM_153603.4(COG7):c.371C>A (p.Ser124Tyr) rs1270268038 0.00001
NM_153603.4(COG7):c.409G>A (p.Asp137Asn) rs758676102 0.00001
NM_153603.4(COG7):c.436-11G>A rs779340924 0.00001
NM_153603.4(COG7):c.455C>T (p.Ala152Val) rs1206659909 0.00001
NM_153603.4(COG7):c.503C>G (p.Pro168Arg) rs1385977854 0.00001
NM_153603.4(COG7):c.604+13T>G rs961952259 0.00001
NM_153603.4(COG7):c.604+20C>T rs767956320 0.00001
NM_153603.4(COG7):c.605A>G (p.Asp202Gly) rs143878627 0.00001
NM_153603.4(COG7):c.646C>T (p.Arg216Trp) rs751918725 0.00001
NM_153603.4(COG7):c.647G>A (p.Arg216Gln) rs766859040 0.00001
NM_153603.4(COG7):c.664G>A (p.Ala222Thr) rs1228086594 0.00001
NM_153603.4(COG7):c.677A>G (p.Lys226Arg) rs776595665 0.00001
NM_153603.4(COG7):c.687+11G>A rs749081598 0.00001
NM_153603.4(COG7):c.688-10G>A rs1247585733 0.00001
NM_153603.4(COG7):c.688-18T>G rs1359659760 0.00001
NM_153603.4(COG7):c.721C>A (p.Gln241Lys) rs758862580 0.00001
NM_153603.4(COG7):c.748C>T (p.Leu250Phe) rs760710960 0.00001
NM_153603.4(COG7):c.768C>T (p.Ala256=) rs183038281 0.00001
NM_153603.4(COG7):c.795C>G (p.Ile265Met) rs779734999 0.00001
NM_153603.4(COG7):c.810+17G>A rs371887493 0.00001
NM_153603.4(COG7):c.818A>G (p.Gln273Arg) rs746662903 0.00001
NM_153603.4(COG7):c.879G>A (p.Ser293=) rs771793296 0.00001
NM_153603.4(COG7):c.901G>A (p.Gly301Ser) rs771367396 0.00001
NM_153603.4(COG7):c.906G>A (p.Val302=) rs781240758 0.00001
NM_153603.4(COG7):c.979G>A (p.Gly327Ser) rs1025545371 0.00001
NM_153603.4(COG7):c.994C>G (p.Leu332Val) rs1355304299 0.00001
NM_153603.4(COG7):c.999C>T (p.Leu333=) rs767348115 0.00001
NC_000016.9:g.(?_23417377)_(23417603_?)del
NM_153603.4(COG7):c.1002C>T (p.Pro334=)
NM_153603.4(COG7):c.1005C>T (p.His335=) rs532636981
NM_153603.4(COG7):c.1010-13T>C
NM_153603.4(COG7):c.1010-18A>G rs1180578007
NM_153603.4(COG7):c.1046A>G (p.Asp349Gly) rs1036433681
NM_153603.4(COG7):c.1058A>G (p.Asp353Gly) rs2506604116
NM_153603.4(COG7):c.1062A>G (p.Pro354=) rs1963699729
NM_153603.4(COG7):c.1064A>T (p.Tyr355Phe) rs1311996838
NM_153603.4(COG7):c.1068A>G (p.Lys356=) rs2506604076
NM_153603.4(COG7):c.1071C>A (p.Pro357=) rs1963699338
NM_153603.4(COG7):c.1089C>T (p.Gly363=) rs539939894
NM_153603.4(COG7):c.1090G>A (p.Asp364Asn) rs764545607
NM_153603.4(COG7):c.1137+11A>G rs74012174
NM_153603.4(COG7):c.1138-15G>A rs2142075337
NM_153603.4(COG7):c.1138-17C>T rs2506600775
NM_153603.4(COG7):c.1138-19G>A
NM_153603.4(COG7):c.1138-8C>T rs2506600745
NM_153603.4(COG7):c.1140G>A (p.Glu380=)
NM_153603.4(COG7):c.1149A>G (p.Glu383=) rs2142075318
NM_153603.4(COG7):c.1150G>T (p.Val384Leu) rs966821454
NM_153603.4(COG7):c.1177C>T (p.His393Tyr) rs780036773
NM_153603.4(COG7):c.1215C>T (p.Ala405=) rs1225509728
NM_153603.4(COG7):c.1236C>G (p.Phe412Leu)
NM_153603.4(COG7):c.1255dup (p.Cys419fs) rs1963666828
NM_153603.4(COG7):c.1259G>T (p.Gly420Val) rs773279166
NM_153603.4(COG7):c.1260C>T (p.Gly420=) rs2506600242
NM_153603.4(COG7):c.1261C>G (p.Leu421Val) rs1596929657
NM_153603.4(COG7):c.1283T>C (p.Leu428Pro) rs2506600155
NM_153603.4(COG7):c.1293-4G>A rs1484585715
NM_153603.4(COG7):c.1293G>A (p.Lys431=) rs554871778
NM_153603.4(COG7):c.1293G>T (p.Lys431Asn) rs554871778
NM_153603.4(COG7):c.1305T>C (p.Asp435=) rs1019861391
NM_153603.4(COG7):c.1311C>T (p.Thr437=) rs2506593016
NM_153603.4(COG7):c.1365C>T (p.Asn455=) rs368607137
NM_153603.4(COG7):c.1375del (p.Gln459fs) rs2506592783
NM_153603.4(COG7):c.1383T>C (p.Asp461=) rs1188125643
NM_153603.4(COG7):c.1409+7C>G rs373366651
NM_153603.4(COG7):c.1409+7C>T rs373366651
NM_153603.4(COG7):c.1410-2A>T rs2506584752
NM_153603.4(COG7):c.1422C>T (p.Thr474=) rs2506584690
NM_153603.4(COG7):c.1426G>A (p.Gly476Arg) rs2506584672
NM_153603.4(COG7):c.1443T>C (p.His481=)
NM_153603.4(COG7):c.1448G>A (p.Gly483Glu) rs1000981366
NM_153603.4(COG7):c.1472A>T (p.Asn491Ile) rs1347819819
NM_153603.4(COG7):c.1474A>T (p.Arg492Trp) rs2142070391
NM_153603.4(COG7):c.1475+14G>A
NM_153603.4(COG7):c.1476-16A>G rs749604038
NM_153603.4(COG7):c.1476-1G>T rs1555493029
NM_153603.4(COG7):c.1476-7A>G rs1963460413
NM_153603.4(COG7):c.1482G>A (p.Leu494=) rs376358218
NM_153603.4(COG7):c.1503A>G (p.Leu501=) rs200335241
NM_153603.4(COG7):c.1511C>G (p.Ser504Cys) rs1031815684
NM_153603.4(COG7):c.1515C>T (p.Cys505=) rs1416139305
NM_153603.4(COG7):c.1518C>T (p.Ser506=)
NM_153603.4(COG7):c.1527C>T (p.Ser509=) rs759004348
NM_153603.4(COG7):c.1528C>A (p.Leu510Met) rs1439469224
NM_153603.4(COG7):c.1560C>T (p.Asp520=) rs1255802125
NM_153603.4(COG7):c.1575C>T (p.Ala525=) rs2506573777
NM_153603.4(COG7):c.1581C>A (p.Asn527Lys)
NM_153603.4(COG7):c.1593A>G (p.Glu531=) rs1555493003
NM_153603.4(COG7):c.162C>A (p.Ala54=) rs1400649738
NM_153603.4(COG7):c.1635T>C (p.Ser545=) rs2506573492
NM_153603.4(COG7):c.1640T>A (p.Met547Lys) rs2506573466
NM_153603.4(COG7):c.1662+13del rs2506573311
NM_153603.4(COG7):c.1662+7G>A rs2506573336
NM_153603.4(COG7):c.1662+9C>T rs1218813439
NM_153603.4(COG7):c.1663-15A>G rs750923653
NM_153603.4(COG7):c.1663-17G>A
NM_153603.4(COG7):c.1663-5C>T
NM_153603.4(COG7):c.1665A>G (p.Glu555=)
NM_153603.4(COG7):c.1674A>T (p.Ser558=) rs775910522
NM_153603.4(COG7):c.167A>G (p.Glu56Gly) rs977110347
NM_153603.4(COG7):c.1683C>G (p.His561Gln)
NM_153603.4(COG7):c.169+18C>G rs2506685512
NM_153603.4(COG7):c.169+18del rs140548275
NM_153603.4(COG7):c.169+20G>A rs1964286086
NM_153603.4(COG7):c.169+4A>C rs1555497568
NM_153603.4(COG7):c.169+8G>T rs1964287409
NM_153603.4(COG7):c.1691T>G (p.Leu564Arg) rs2506567907
NM_153603.4(COG7):c.1699C>T (p.Pro567Ser) rs2506567868
NM_153603.4(COG7):c.170-10_170-9del rs71379679
NM_153603.4(COG7):c.170-9del rs71379679
NM_153603.4(COG7):c.1702C>T (p.Arg568Ter)
NM_153603.4(COG7):c.1703G>C (p.Arg568Pro)
NM_153603.4(COG7):c.1746T>C (p.Ala582=) rs2506567631
NM_153603.4(COG7):c.1755C>A (p.Ser585=) rs757896550
NM_153603.4(COG7):c.1765C>T (p.Arg589Cys) rs2506567574
NM_153603.4(COG7):c.1776A>G (p.Gln592=) rs2506567532
NM_153603.4(COG7):c.1784T>A (p.Leu595Ter) rs2506567482
NM_153603.4(COG7):c.1803+15G>A rs772453205
NM_153603.4(COG7):c.1803+16A>G rs2506567301
NM_153603.4(COG7):c.1804-13G>T
NM_153603.4(COG7):c.1804-14C>A rs768020092
NM_153603.4(COG7):c.1804-14C>T rs768020092
NM_153603.4(COG7):c.1804-5del
NM_153603.4(COG7):c.1808G>A (p.Trp603Ter) rs1963314793
NM_153603.4(COG7):c.1873G>C (p.Glu625Gln) rs150027511
NM_153603.4(COG7):c.1887+15G>A
NM_153603.4(COG7):c.1887+1G>A
NM_153603.4(COG7):c.1888-13dup rs2506544504
NM_153603.4(COG7):c.1888-15T>C rs1279518119
NM_153603.4(COG7):c.1888-16C>T
NM_153603.4(COG7):c.1890C>A (p.Ile630=) rs199904223
NM_153603.4(COG7):c.1890C>T (p.Ile630=) rs199904223
NM_153603.4(COG7):c.189C>T (p.Leu63=) rs1237076520
NM_153603.4(COG7):c.1914C>G (p.Pro638=) rs111414595
NM_153603.4(COG7):c.1915C>T (p.Leu639=)
NM_153603.4(COG7):c.1929A>G (p.Pro643=)
NM_153603.4(COG7):c.1946A>G (p.Asp649Gly) rs1596905308
NM_153603.4(COG7):c.1949C>G (p.Ser650Cys) rs1963230461
NM_153603.4(COG7):c.1965A>G (p.Ala655=) rs2506544226
NM_153603.4(COG7):c.2003-13del rs2506542460
NM_153603.4(COG7):c.2003-14_2003-12del rs1412438092
NM_153603.4(COG7):c.2003-20T>C rs2506542473
NM_153603.4(COG7):c.2003-9T>G rs1963216560
NM_153603.4(COG7):c.2011T>C (p.Leu671=)
NM_153603.4(COG7):c.2014C>T (p.Pro672Ser) rs2506542392
NM_153603.4(COG7):c.2032G>T (p.Ala678Ser) rs1596904416
NM_153603.4(COG7):c.2088G>A (p.Ala696=) rs148049184
NM_153603.4(COG7):c.2099T>C (p.Ile700Thr) rs1963214487
NM_153603.4(COG7):c.2109G>A (p.Leu703=)
NM_153603.4(COG7):c.210C>A (p.Leu70=) rs543986842
NM_153603.4(COG7):c.2122G>A (p.Ala708Thr) rs1963213617
NM_153603.4(COG7):c.212G>A (p.Arg71His) rs745329738
NM_153603.4(COG7):c.2146+10del rs748589611
NM_153603.4(COG7):c.2146+8C>A rs764926770
NM_153603.4(COG7):c.2146+9C>G rs2506541919
NM_153603.4(COG7):c.2146+9C>T rs2506541919
NM_153603.4(COG7):c.2147-10_2147-9delinsTT rs2506533901
NM_153603.4(COG7):c.2147-13T>C
NM_153603.4(COG7):c.2147-17C>T
NM_153603.4(COG7):c.2185C>T (p.Pro729Ser) rs2506533706
NM_153603.4(COG7):c.2195C>T (p.Thr732Ile) rs763328829
NM_153603.4(COG7):c.2217A>G (p.Leu739=) rs778874347
NM_153603.4(COG7):c.2232T>A (p.Pro744=) rs1963141946
NM_153603.4(COG7):c.2241T>C (p.Tyr747=)
NM_153603.4(COG7):c.2270G>A (p.Arg757His) rs368733148
NM_153603.4(COG7):c.2281A>G (p.Thr761Ala) rs1963140690
NM_153603.4(COG7):c.2287G>T (p.Ala763Ser) rs1390797306
NM_153603.4(COG7):c.2290A>G (p.Thr764Ala)
NM_153603.4(COG7):c.2293A>G (p.Met765Val) rs769556611
NM_153603.4(COG7):c.2304G>C (p.Val768=) rs1218532996
NM_153603.4(COG7):c.252A>G (p.Lys84=)
NM_153603.4(COG7):c.300C>T (p.Asp100=) rs2506668931
NM_153603.4(COG7):c.318+20C>A rs776418564
NM_153603.4(COG7):c.318+5T>C rs2506668865
NM_153603.4(COG7):c.319-16C>T
NM_153603.4(COG7):c.323dup (p.Leu108fs) rs797044712
NM_153603.4(COG7):c.343_344insTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCGCTCCCTCTCCCGGCTCCCGCTCCCGCTCCCGGGGCCCTCTCCCGCGCGCGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAATTGACCAAGTGA (p.Lys115delinsIleProLeuProLeuProSerProSerProSerProValSerArgSerLeuSerArgLeuProLeuProLeuProGlyProSerProAlaArgGlyXaaXaaXaaXaaLysLysLysLysLysLysArgAsnTer)
NM_153603.4(COG7):c.366C>G (p.Ala122=) rs74012178
NM_153603.4(COG7):c.366C>T (p.Ala122=) rs74012178
NM_153603.4(COG7):c.373C>G (p.Leu125Val) rs2506667183
NM_153603.4(COG7):c.412A>G (p.Ile138Val) rs1298612634
NM_153603.4(COG7):c.435+16A>G rs2506666937
NM_153603.4(COG7):c.435+20G>T rs2506666920
NM_153603.4(COG7):c.436-12G>A rs2142094162
NM_153603.4(COG7):c.436-13T>G rs2506661234
NM_153603.4(COG7):c.436-18T>C
NM_153603.4(COG7):c.436-4C>T rs1964120151
NM_153603.4(COG7):c.438C>G (p.Asp146Glu) rs754017623
NM_153603.4(COG7):c.443C>G (p.Ala148Gly) rs376425866
NM_153603.4(COG7):c.468T>C (p.Gly156=) rs1273330267
NM_153603.4(COG7):c.538C>T (p.Leu180=) rs2506660878
NM_153603.4(COG7):c.570A>G (p.Pro190=) rs2142094050
NM_153603.4(COG7):c.577G>A (p.Val193Ile) rs1596955037
NM_153603.4(COG7):c.601G>T (p.Val201Leu) rs2506660600
NM_153603.4(COG7):c.604+3G>A rs753229305
NM_153603.4(COG7):c.605-13G>T rs1415853002
NM_153603.4(COG7):c.605-18A>G
NM_153603.4(COG7):c.614A>C (p.Lys205Thr) rs568813084
NM_153603.4(COG7):c.628G>A (p.Val210Met) rs202038832
NM_153603.4(COG7):c.630G>A (p.Val210=) rs2506642808
NM_153603.4(COG7):c.642T>C (p.Ile214=) rs1362703585
NM_153603.4(COG7):c.668A>G (p.Tyr223Cys) rs377542270
NM_153603.4(COG7):c.684C>T (p.His228=) rs771937528
NM_153603.4(COG7):c.687+17G>A rs780865695
NM_153603.4(COG7):c.687+18A>T rs755480315
NM_153603.4(COG7):c.687+1G>A rs2506642569
NM_153603.4(COG7):c.688-6C>T rs2142087500
NM_153603.4(COG7):c.698del (p.Leu232_Leu233insTer) rs2506639430
NM_153603.4(COG7):c.734C>T (p.Ser245Phe) rs2506639300
NM_153603.4(COG7):c.758T>A (p.Leu253His) rs1413062130
NM_153603.4(COG7):c.792A>G (p.Gln264=) rs746479075
NM_153603.4(COG7):c.802G>T (p.Ala268Ser) rs1963966147
NM_153603.4(COG7):c.810+16del rs781192792
NM_153603.4(COG7):c.810+20del rs1389625276
NM_153603.4(COG7):c.811-14C>T rs545654100
NM_153603.4(COG7):c.811-16C>T rs2506619858
NM_153603.4(COG7):c.811-5T>C
NM_153603.4(COG7):c.811-7A>G rs2506619801
NM_153603.4(COG7):c.822G>A (p.Lys274=) rs2506619765
NM_153603.4(COG7):c.844C>T (p.Leu282=) rs2506619680
NM_153603.4(COG7):c.845T>C (p.Leu282Pro) rs2506619674
NM_153603.4(COG7):c.848T>G (p.Leu283Arg) rs2506619664
NM_153603.4(COG7):c.879G>T (p.Ser293=)
NM_153603.4(COG7):c.904G>C (p.Val302Leu) rs116314856
NM_153603.4(COG7):c.909G>A (p.Glu303=) rs2506619353
NM_153603.4(COG7):c.951C>A (p.Phe317Leu) rs199739443
NM_153603.4(COG7):c.964G>A (p.Ala322Thr) rs201584244
NM_153603.4(COG7):c.966C>T (p.Ala322=) rs2506619095
NM_153603.4(COG7):c.972C>G (p.Phe324Leu) rs747262700
NM_153603.4(COG7):c.984G>A (p.Leu328=) rs1160717553
NM_153603.4(COG7):c.995T>G (p.Leu332Arg) rs756142167

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