ClinVar Miner

List of variants studied for COG1-congenital disorder of glycosylation

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 339
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HGVS dbSNP gnomAD frequency
NM_018714.3(COG1):c.1282-48T>C rs1026130 0.98047
NM_018714.3(COG1):c.2383-17T>C rs3829571 0.91491
NM_018714.3(COG1):c.1175A>G (p.Asn392Ser) rs1026128 0.50958
NM_018714.2(COG1):c.-27A>G rs3764359 0.50887
NM_018714.3(COG1):c.543A>G (p.Ala181=) rs11544800 0.43890
NM_018714.3(COG1):c.333G>A (p.Gln111=) rs1052706 0.43844
NM_018714.3(COG1):c.1473C>T (p.Ser491=) rs1551036 0.13412
NM_018714.3(COG1):c.1357G>C (p.Glu453Gln) rs62621249 0.06636
NM_018714.3(COG1):c.58G>C (p.Ala20Pro) rs142719529 0.01075
NM_018714.3(COG1):c.1049C>T (p.Thr350Met) rs117344829 0.00650
NM_018714.3(COG1):c.529A>G (p.Ile177Val) rs150001655 0.00545
NM_018714.3(COG1):c.2620-10T>G rs144989249 0.00513
NM_018714.3(COG1):c.522T>C (p.Pro174=) rs75460067 0.00469
NM_018714.3(COG1):c.2231A>G (p.Tyr744Cys) rs7208207 0.00447
NM_018714.3(COG1):c.775G>T (p.Val259Leu) rs139304974 0.00419
NM_018714.3(COG1):c.1712G>A (p.Arg571Gln) rs141750466 0.00398
NM_001098832.2(VCF1):c.*1228G>A rs141573449 0.00381
NM_018714.3(COG1):c.1893C>T (p.Cys631=) rs80232475 0.00230
NM_018714.3(COG1):c.2304A>G (p.Thr768=) rs147598221 0.00134
NM_018714.3(COG1):c.401C>T (p.Ser134Leu) rs146066919 0.00125
NM_018714.3(COG1):c.1282-3T>C rs188853520 0.00064
NM_018714.3(COG1):c.1498A>T (p.Ser500Cys) rs143051453 0.00058
NM_018714.3(COG1):c.1710G>A (p.Leu570=) rs139407216 0.00047
NM_018714.3(COG1):c.2418G>A (p.Ala806=) rs141305065 0.00046
NM_018714.3(COG1):c.743-10C>G rs185592690 0.00046
NM_018714.3(COG1):c.1350G>A (p.Gln450=) rs143699348 0.00038
NM_018714.3(COG1):c.2900C>G (p.Pro967Arg) rs147588256 0.00034
NM_018714.3(COG1):c.96G>A (p.Gly32=) rs143964203 0.00029
NM_018714.3(COG1):c.2406C>T (p.Thr802=) rs149083729 0.00024
NM_018714.3(COG1):c.1117G>A (p.Val373Met) rs201886877 0.00022
NM_018714.3(COG1):c.1243G>C (p.Glu415Gln) rs142830395 0.00021
NM_018714.3(COG1):c.2365G>A (p.Glu789Lys) rs201867802 0.00021
NM_018714.3(COG1):c.1132G>C (p.Gly378Arg) rs138121131 0.00020
NM_018714.3(COG1):c.2221-7C>T rs574849133 0.00018
NM_018714.3(COG1):c.2073+17C>T rs375124338 0.00017
NM_018714.3(COG1):c.2362T>C (p.Ser788Pro) rs546366531 0.00016
NM_018714.3(COG1):c.2482A>G (p.Lys828Glu) rs1011259443 0.00013
NM_018714.3(COG1):c.560+15C>T rs201364732 0.00013
NM_018714.3(COG1):c.1230G>A (p.Pro410=) rs148502827 0.00012
NM_018714.3(COG1):c.1912A>C (p.Ser638Arg) rs763484856 0.00012
NM_018714.3(COG1):c.265C>T (p.Arg89Cys) rs766457949 0.00012
NM_018714.3(COG1):c.384G>A (p.Pro128=) rs142827255 0.00012
NM_018714.3(COG1):c.542C>T (p.Ala181Val) rs534708439 0.00012
NM_018714.3(COG1):c.2511-5C>G rs201123101 0.00011
NM_018714.3(COG1):c.2619+11T>A rs144115463 0.00011
NM_018714.3(COG1):c.315+8C>T rs748732950 0.00011
NM_018714.3(COG1):c.1688C>T (p.Ala563Val) rs375617141 0.00010
NM_018714.3(COG1):c.2822G>A (p.Arg941His) rs759050295 0.00010
NM_018714.3(COG1):c.1484G>A (p.Arg495Gln) rs149030357 0.00009
NM_018714.3(COG1):c.1722C>T (p.Ser574=) rs149888309 0.00009
NM_018714.3(COG1):c.2222C>T (p.Pro741Leu) rs200395052 0.00009
NM_018714.3(COG1):c.2262G>C (p.Gln754His) rs756535197 0.00009
NM_018714.3(COG1):c.2485A>C (p.Ser829Arg) rs199752799 0.00009
NM_018714.3(COG1):c.546C>T (p.Ala182=) rs768914690 0.00009
NM_018714.3(COG1):c.613G>A (p.Asp205Asn) rs141474045 0.00009
NM_018714.3(COG1):c.838C>A (p.Leu280Met) rs140691967 0.00009
NM_018714.3(COG1):c.2223G>A (p.Pro741=) rs147260793 0.00008
NM_018714.3(COG1):c.2752A>G (p.Met918Val) rs201733537 0.00008
NM_018714.3(COG1):c.2818G>A (p.Ala940Thr) rs144896007 0.00008
NM_018714.3(COG1):c.402G>A (p.Ser134=) rs765699770 0.00008
NM_018714.3(COG1):c.1744G>A (p.Val582Met) rs778769386 0.00007
NM_018714.3(COG1):c.2620-11_2620-10del rs780690910 0.00007
NM_018714.3(COG1):c.1982T>G (p.Ile661Ser) rs139676777 0.00006
NM_018714.3(COG1):c.2281G>A (p.Gly761Ser) rs771789779 0.00006
NM_018714.3(COG1):c.258C>T (p.Tyr86=) rs60688184 0.00006
NM_018714.3(COG1):c.2890A>G (p.Thr964Ala) rs777073858 0.00006
NM_018714.3(COG1):c.728A>G (p.Asn243Ser) rs368856790 0.00006
NM_018714.3(COG1):c.164G>C (p.Arg55Pro) rs751859972 0.00005
NM_018714.3(COG1):c.20C>T (p.Ser7Leu) rs200144944 0.00005
NM_018714.3(COG1):c.2666G>A (p.Arg889Gln) rs148773959 0.00005
NM_018714.3(COG1):c.2826C>T (p.Ser942=) rs767159115 0.00005
NM_018714.3(COG1):c.575A>C (p.His192Pro) rs141340733 0.00005
NM_018714.3(COG1):c.914G>A (p.Gly305Glu) rs375438969 0.00005
NM_018714.3(COG1):c.1071-15A>G rs373571014 0.00004
NM_018714.3(COG1):c.1157T>C (p.Met386Thr) rs200459268 0.00004
NM_018714.3(COG1):c.1757G>A (p.Arg586Gln) rs769310036 0.00004
NM_018714.3(COG1):c.2074-3C>G rs372888977 0.00004
NM_018714.3(COG1):c.2220+18G>C rs1267855413 0.00004
NM_018714.3(COG1):c.2781C>T (p.Thr927=) rs567297928 0.00004
NM_018714.3(COG1):c.2836G>A (p.Asp946Asn) rs139440017 0.00004
NM_018714.3(COG1):c.2929A>G (p.Ser977Gly) rs757086937 0.00004
NM_018714.3(COG1):c.34C>T (p.Arg12Trp) rs201263432 0.00004
NM_018714.3(COG1):c.427G>A (p.Ala143Thr) rs747933899 0.00004
NM_018714.3(COG1):c.655G>C (p.Glu219Gln) rs201963725 0.00004
NM_018714.3(COG1):c.1035A>G (p.Glu345=) rs199576608 0.00003
NM_018714.3(COG1):c.2617T>G (p.Ser873Ala) rs139330442 0.00003
NM_018714.3(COG1):c.2790C>T (p.Ile930=) rs770966526 0.00003
NM_018714.3(COG1):c.47G>T (p.Arg16Leu) rs527295185 0.00003
NM_018714.3(COG1):c.87G>C (p.Glu29Asp) rs375609831 0.00003
NM_018714.3(COG1):c.9C>T (p.Thr3=) rs139516400 0.00003
NM_018714.3(COG1):c.1152C>T (p.Asp384=) rs777144980 0.00002
NM_018714.3(COG1):c.126G>A (p.Glu42=) rs944279563 0.00002
NM_018714.3(COG1):c.1367C>G (p.Thr456Ser) rs140675600 0.00002
NM_018714.3(COG1):c.1784G>T (p.Gly595Val) rs752197597 0.00002
NM_018714.3(COG1):c.1890G>A (p.Gln630=) rs146046236 0.00002
NM_018714.3(COG1):c.2514T>C (p.Ile838=) rs917892922 0.00002
NM_018714.3(COG1):c.2665C>T (p.Arg889Trp) rs144316008 0.00002
NM_018714.3(COG1):c.2841G>A (p.Pro947=) rs777590708 0.00002
NM_018714.3(COG1):c.2891C>T (p.Thr964Met) rs767105962 0.00002
NM_018714.3(COG1):c.394T>C (p.Trp132Arg) rs569882797 0.00002
NM_018714.3(COG1):c.984C>T (p.Ile328=) rs756930348 0.00002
NM_001098832.2(VCF1):c.*1037G>A rs369768700 0.00001
NM_018714.3(COG1):c.1017A>T (p.Ala339=) rs1270386762 0.00001
NM_018714.3(COG1):c.1070+3A>G rs201281586 0.00001
NM_018714.3(COG1):c.1070+9C>A rs781005411 0.00001
NM_018714.3(COG1):c.1071G>T (p.Met357Ile) rs761343140 0.00001
NM_018714.3(COG1):c.1108C>T (p.Leu370Phe) rs1429642320 0.00001
NM_018714.3(COG1):c.1116C>T (p.Tyr372=) rs369118260 0.00001
NM_018714.3(COG1):c.1153G>A (p.Ala385Thr) rs770355508 0.00001
NM_018714.3(COG1):c.1236G>A (p.Leu412=) rs371641254 0.00001
NM_018714.3(COG1):c.1318A>G (p.Ser440Gly) rs886053369 0.00001
NM_018714.3(COG1):c.1428G>A (p.Trp476Ter) rs1227032564 0.00001
NM_018714.3(COG1):c.1462G>T (p.Ala488Ser) rs1451680348 0.00001
NM_018714.3(COG1):c.1474G>A (p.Val492Met) rs565847659 0.00001
NM_018714.3(COG1):c.1480A>G (p.Asn494Asp) rs779677895 0.00001
NM_018714.3(COG1):c.1504G>A (p.Gly502Ser) rs770925715 0.00001
NM_018714.3(COG1):c.1621T>A (p.Ser541Thr) rs1485609633 0.00001
NM_018714.3(COG1):c.1689G>A (p.Ala563=) rs1313968056 0.00001
NM_018714.3(COG1):c.1695C>T (p.Thr565=) rs760702621 0.00001
NM_018714.3(COG1):c.1723G>A (p.Val575Met) rs755592132 0.00001
NM_018714.3(COG1):c.1750T>C (p.Cys584Arg) rs1230710369 0.00001
NM_018714.3(COG1):c.1834C>A (p.Leu612Ile) rs936131075 0.00001
NM_018714.3(COG1):c.2035G>A (p.Val679Met) rs1229728305 0.00001
NM_018714.3(COG1):c.2042G>A (p.Gly681Asp) rs766057419 0.00001
NM_018714.3(COG1):c.2368G>C (p.Glu790Gln) rs749884441 0.00001
NM_018714.3(COG1):c.2382+4G>A rs1047192668 0.00001
NM_018714.3(COG1):c.2546T>C (p.Ile849Thr) rs138801104 0.00001
NM_018714.3(COG1):c.2600G>A (p.Arg867His) rs374341080 0.00001
NM_018714.3(COG1):c.261C>T (p.Cys87=) rs1187216995 0.00001
NM_018714.3(COG1):c.2675C>T (p.Thr892Met) rs751977123 0.00001
NM_018714.3(COG1):c.2682C>T (p.Asn894=) rs781686684 0.00001
NM_018714.3(COG1):c.273C>G (p.Arg91=) rs1184771069 0.00001
NM_018714.3(COG1):c.2791G>A (p.Glu931Lys) rs774479733 0.00001
NM_018714.3(COG1):c.2844A>G (p.Thr948=) rs376824047 0.00001
NM_018714.3(COG1):c.2848C>T (p.Pro950Ser) rs779987364 0.00001
NM_018714.3(COG1):c.2866C>T (p.Gln956Ter) rs748475815 0.00001
NM_018714.3(COG1):c.2892G>A (p.Thr964=) rs775097195 0.00001
NM_018714.3(COG1):c.303G>A (p.Pro101=) rs886053368 0.00001
NM_018714.3(COG1):c.311A>G (p.Gln104Arg) rs1285029408 0.00001
NM_018714.3(COG1):c.504C>T (p.Pro168=) rs773716192 0.00001
NM_018714.3(COG1):c.505G>A (p.Val169Ile) rs761121843 0.00001
NM_018714.3(COG1):c.671G>A (p.Arg224His) rs1434730052 0.00001
NM_018714.3(COG1):c.705G>A (p.Lys235=) rs1384297418 0.00001
NM_018714.3(COG1):c.791C>T (p.Thr264Ile) rs367884440 0.00001
NM_018714.3(COG1):c.79G>T (p.Ala27Ser) rs529636950 0.00001
NM_018714.3(COG1):c.828G>T (p.Leu276Phe) rs769317853 0.00001
NM_018714.3(COG1):c.85G>A (p.Glu29Lys) rs1032371996 0.00001
NM_018714.3(COG1):c.988G>A (p.Glu330Lys) rs779924491 0.00001
NC_000017.10:g.(?_71189189)_(71189543_?)dup
NM_001098832.2(VCF1):c.*1231_*1235del
NM_018714.3(COG1):c.1006C>T (p.Arg336Ter)
NM_018714.3(COG1):c.105C>G (p.Arg35=) rs1599320719
NM_018714.3(COG1):c.1070+5G>A rs1568296260
NM_018714.3(COG1):c.1091del (p.Asn364fs)
NM_018714.3(COG1):c.1130del (p.Lys377fs) rs2145097019
NM_018714.3(COG1):c.1137C>T (p.Leu379=)
NM_018714.3(COG1):c.1139C>T (p.Ala380Val)
NM_018714.3(COG1):c.1140G>A (p.Ala380=)
NM_018714.3(COG1):c.1149G>A (p.Arg383=)
NM_018714.3(COG1):c.117C>T (p.Ala39=)
NM_018714.3(COG1):c.1183A>C (p.Thr395Pro)
NM_018714.3(COG1):c.1206A>G (p.Leu402=)
NM_018714.3(COG1):c.1207T>C (p.Cys403Arg)
NM_018714.3(COG1):c.1221G>A (p.Leu407=)
NM_018714.3(COG1):c.125A>C (p.Glu42Ala)
NM_018714.3(COG1):c.1274G>A (p.Arg425Gln) rs150638922
NM_018714.3(COG1):c.1282-15C>G
NM_018714.3(COG1):c.1288A>G (p.Thr430Ala)
NM_018714.3(COG1):c.1343C>T (p.Ala448Val) rs1372546537
NM_018714.3(COG1):c.1406ACA[1] (p.Asn470del) rs1354666647
NM_018714.3(COG1):c.1446C>G (p.Asp482Glu)
NM_018714.3(COG1):c.1456G>A (p.Asp486Asn)
NM_018714.3(COG1):c.148C>T (p.Gln50Ter)
NM_018714.3(COG1):c.1516A>G (p.Lys506Glu)
NM_018714.3(COG1):c.1523A>G (p.Gln508Arg) rs2145097990
NM_018714.3(COG1):c.1530C>T (p.Ile510=)
NM_018714.3(COG1):c.153G>A (p.Met51Ile) rs976164079
NM_018714.3(COG1):c.1578G>A (p.Lys526=)
NM_018714.3(COG1):c.1590T>G (p.Asp530Glu)
NM_018714.3(COG1):c.1605C>T (p.Tyr535=)
NM_018714.3(COG1):c.163C>T (p.Arg55Trp)
NM_018714.3(COG1):c.1680C>T (p.Tyr560=)
NM_018714.3(COG1):c.1711C>T (p.Arg571Trp)
NM_018714.3(COG1):c.1742T>C (p.Ile581Thr) rs2145098238
NM_018714.3(COG1):c.1767A>G (p.Leu589=) rs2145098268
NM_018714.3(COG1):c.1771A>G (p.Ser591Gly) rs2145098272
NM_018714.3(COG1):c.1781_1782delinsGT (p.Glu594Gly) rs2145098299
NM_018714.3(COG1):c.1782G>A (p.Glu594=) rs1037256
NM_018714.3(COG1):c.1782G>C (p.Glu594Asp) rs1037256
NM_018714.3(COG1):c.180C>G (p.Ile60Met)
NM_018714.3(COG1):c.1813A>G (p.Ser605Gly)
NM_018714.3(COG1):c.1826A>C (p.His609Pro)
NM_018714.3(COG1):c.189C>A (p.Ala63=)
NM_018714.3(COG1):c.1935G>T (p.Glu645Asp) rs772385793
NM_018714.3(COG1):c.1952A>G (p.Lys651Arg)
NM_018714.3(COG1):c.1980C>A (p.Ile660=)
NM_018714.3(COG1):c.1988C>T (p.Thr663Ile) rs2145098550
NM_018714.3(COG1):c.1993G>T (p.Ala665Ser)
NM_018714.3(COG1):c.1A>G (p.Met1Val)
NM_018714.3(COG1):c.2007G>C (p.Glu669Asp)
NM_018714.3(COG1):c.2008G>A (p.Val670Ile)
NM_018714.3(COG1):c.200G>T (p.Gly67Val) rs886053367
NM_018714.3(COG1):c.2021TCC[1] (p.Leu675del) rs398124346
NM_018714.3(COG1):c.204G>A (p.Gln68=)
NM_018714.3(COG1):c.2052C>A (p.Val684=) rs2145098651
NM_018714.3(COG1):c.2057G>T (p.Ser686Ile)
NM_018714.3(COG1):c.2060G>C (p.Ser687Thr) rs1232713937
NM_018714.3(COG1):c.2116G>C (p.Ala706Pro)
NM_018714.3(COG1):c.2124A>C (p.Ser708=)
NM_018714.3(COG1):c.2183_2184delinsCA (p.Gly728Ala) rs1599328658
NM_018714.3(COG1):c.2189G>T (p.Ser730Ile) rs2145100344
NM_018714.3(COG1):c.218C>A (p.Ala73Asp)
NM_018714.3(COG1):c.2199C>G (p.Ser733=)
NM_018714.3(COG1):c.2216C>T (p.Ala739Val)
NM_018714.3(COG1):c.2220+14A>G
NM_018714.3(COG1):c.2220+15T>C
NM_018714.3(COG1):c.2220+15T>G
NM_018714.3(COG1):c.2220+18del rs1246223880
NM_018714.3(COG1):c.2220+9G>A
NM_018714.3(COG1):c.2221-14_2221-13del rs374132938
NM_018714.3(COG1):c.2222C>A (p.Pro741Gln) rs200395052
NM_018714.3(COG1):c.2225C>A (p.Ser742Tyr)
NM_018714.3(COG1):c.2233G>A (p.Val745Ile) rs2061356029
NM_018714.3(COG1):c.2272C>T (p.Arg758Trp) rs146952271
NM_018714.3(COG1):c.2361C>G (p.Leu787=)
NM_018714.3(COG1):c.2383-10T>C
NM_018714.3(COG1):c.2383-14G>A rs965867949
NM_018714.3(COG1):c.2383-17_2383-16inv
NM_018714.3(COG1):c.2392G>A (p.Ala798Thr)
NM_018714.3(COG1):c.2413C>G (p.Arg805Gly)
NM_018714.3(COG1):c.2414G>A (p.Arg805Gln)
NM_018714.3(COG1):c.2484G>A (p.Lys828=)
NM_018714.3(COG1):c.2486G>A (p.Ser829Asn)
NM_018714.3(COG1):c.2492G>A (p.Arg831Gln)
NM_018714.3(COG1):c.2510G>C (p.Arg837Thr) rs2061367152
NM_018714.3(COG1):c.2515G>C (p.Glu839Gln)
NM_018714.3(COG1):c.2525C>T (p.Thr842Ile)
NM_018714.3(COG1):c.254dup (p.Tyr86fs)
NM_018714.3(COG1):c.2555T>C (p.Phe852Ser)
NM_018714.3(COG1):c.2562G>A (p.Leu854=)
NM_018714.3(COG1):c.2574G>A (p.Thr858=)
NM_018714.3(COG1):c.2575C>T (p.Pro859Ser) rs2145105028
NM_018714.3(COG1):c.2597A>G (p.His866Arg) rs555212855
NM_018714.3(COG1):c.2605G>A (p.Val869Met) rs886053370
NM_018714.3(COG1):c.2606T>G (p.Val869Gly) rs1599331791
NM_018714.3(COG1):c.2618C>T (p.Ser873Phe)
NM_018714.3(COG1):c.2619+17A>T
NM_018714.3(COG1):c.2620-13T>C rs2145106371
NM_018714.3(COG1):c.2620-9G>C rs2061375147
NM_018714.3(COG1):c.2626_2629dup (p.Gly877fs) rs1568298983
NM_018714.3(COG1):c.2634G>A (p.Leu878=)
NM_018714.3(COG1):c.2659G>A (p.Ala887Thr)
NM_018714.3(COG1):c.2664C>T (p.Pro888=)
NM_018714.3(COG1):c.2665dup (p.Arg889fs) rs747606976
NM_018714.3(COG1):c.2675C>G (p.Thr892Arg) rs751977123
NM_018714.3(COG1):c.2676G>A (p.Thr892=)
NM_018714.3(COG1):c.2681A>G (p.Asn894Ser)
NM_018714.3(COG1):c.2686C>T (p.Gln896Ter)
NM_018714.3(COG1):c.26C>T (p.Ala9Val) rs759369353
NM_018714.3(COG1):c.2715A>G (p.Ala905=)
NM_018714.3(COG1):c.2719A>T (p.Ser907Cys) rs1468033790
NM_018714.3(COG1):c.2729+3_2729+9del rs771485996
NM_018714.3(COG1):c.272G>T (p.Arg91Leu)
NM_018714.3(COG1):c.2730-18T>C
NM_018714.3(COG1):c.2747T>C (p.Leu916Pro)
NM_018714.3(COG1):c.2791G>T (p.Glu931Ter) rs774479733
NM_018714.3(COG1):c.2805+13_2805+20del
NM_018714.3(COG1):c.2805+18G>C
NM_018714.3(COG1):c.2808T>C (p.Val936=) rs1382677421
NM_018714.3(COG1):c.2816dup (p.Ala940fs) rs776834154
NM_018714.3(COG1):c.2817G>A (p.Pro939=)
NM_018714.3(COG1):c.2825C>T (p.Ser942Phe)
NM_018714.3(COG1):c.2840C>T (p.Pro947Leu) rs755921036
NM_018714.3(COG1):c.2862C>T (p.Phe954=)
NM_018714.3(COG1):c.2867A>C (p.Gln956Pro) rs2145112419
NM_018714.3(COG1):c.2872G>A (p.Val958Ile)
NM_018714.3(COG1):c.2883A>C (p.Glu961Asp) rs2145112491
NM_018714.3(COG1):c.2928T>C (p.Ser976=)
NM_018714.3(COG1):c.305G>C (p.Arg102Pro) rs1305832253
NM_018714.3(COG1):c.308C>T (p.Ala103Val)
NM_018714.3(COG1):c.315+10C>G rs1188495993
NM_018714.3(COG1):c.315+18C>T
NM_018714.3(COG1):c.315+9C>G
NM_018714.3(COG1):c.316-6C>T
NM_018714.3(COG1):c.316-9C>T
NM_018714.3(COG1):c.327A>G (p.Pro109=)
NM_018714.3(COG1):c.334_336del (p.Glu112del)
NM_018714.3(COG1):c.403A>T (p.Met135Leu)
NM_018714.3(COG1):c.423C>G (p.Leu141=)
NM_018714.3(COG1):c.423C>T (p.Leu141=)
NM_018714.3(COG1):c.426C>T (p.His142=)
NM_018714.3(COG1):c.448T>A (p.Cys150Ser)
NM_018714.3(COG1):c.494G>A (p.Arg165Gln) rs777018719
NM_018714.3(COG1):c.509T>C (p.Leu170Pro) rs2145092629
NM_018714.3(COG1):c.510C>T (p.Leu170=)
NM_018714.3(COG1):c.511T>C (p.Ser171Pro)
NM_018714.3(COG1):c.514C>T (p.Arg172Trp)
NM_018714.3(COG1):c.542_543inv (p.Ala181Val)
NM_018714.3(COG1):c.549C>T (p.Ala183=) rs1302286767
NM_018714.3(COG1):c.552C>T (p.Ser184=)
NM_018714.3(COG1):c.559C>T (p.Arg187Trp)
NM_018714.3(COG1):c.560+16G>A
NM_018714.3(COG1):c.560+18A>C
NM_018714.3(COG1):c.560+8G>A
NM_018714.3(COG1):c.560G>A (p.Arg187Gln)
NM_018714.3(COG1):c.561-11_561-9del
NM_018714.3(COG1):c.561-1G>A
NM_018714.3(COG1):c.561-6T>C rs1197833925
NM_018714.3(COG1):c.561-6T>G
NM_018714.3(COG1):c.565A>G (p.Thr189Ala) rs193248551
NM_018714.3(COG1):c.573G>T (p.Leu191=)
NM_018714.3(COG1):c.599G>A (p.Cys200Tyr) rs2145093008
NM_018714.3(COG1):c.599G>C (p.Cys200Ser)
NM_018714.3(COG1):c.622G>A (p.Val208Met)
NM_018714.3(COG1):c.626C>T (p.Ala209Val)
NM_018714.3(COG1):c.628G>A (p.Glu210Lys)
NM_018714.3(COG1):c.628G>C (p.Glu210Gln) rs567533944
NM_018714.3(COG1):c.649C>G (p.Leu217Val)
NM_018714.3(COG1):c.701G>A (p.Arg234Lys)
NM_018714.3(COG1):c.733C>T (p.Pro245Ser) rs1486692795
NM_018714.3(COG1):c.742+14C>G
NM_018714.3(COG1):c.743-4T>C
NM_018714.3(COG1):c.750T>C (p.Gly250=)
NM_018714.3(COG1):c.810T>C (p.His270=)
NM_018714.3(COG1):c.833_835del (p.Glu278del)
NM_018714.3(COG1):c.847G>A (p.Asp283Asn) rs2145093457
NM_018714.3(COG1):c.850C>T (p.Pro284Ser)
NM_018714.3(COG1):c.903G>C (p.Gln301His) rs117208167
NM_018714.3(COG1):c.907C>T (p.Pro303Ser) rs750659961
NM_018714.3(COG1):c.913+18C>A rs2145093567
NM_018714.3(COG1):c.913+9T>G
NM_018714.3(COG1):c.913G>A (p.Gly305Arg)
NM_018714.3(COG1):c.914-8C>A rs761810775
NM_018714.3(COG1):c.914-8C>G
NM_018714.3(COG1):c.930C>T (p.Val310=) rs2145096162
NM_018714.3(COG1):c.967C>A (p.His323Asn) rs369505856
NM_018714.3(COG1):c.980C>T (p.Ser327Phe) rs2145096200
NM_018714.3(COG1):c.985G>A (p.Val329Ile) rs778591192
NM_018714.3(COG1):c.987C>T (p.Val329=)

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