ClinVar Miner

List of variants in gene COG5 studied for congenital disorder of glycosylation type II

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 670
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HGVS dbSNP gnomAD frequency
NM_006348.5(COG5):c.895T>C (p.Phe299Leu) rs2269970 0.64619
NM_006348.5(COG5):c.234+16T>A rs2520272 0.41271
NM_006348.5(COG5):c.347+4C>A rs2066735 0.26803
NM_006348.5(COG5):c.949-18A>G rs12536603 0.15851
NM_006348.5(COG5):c.*828C>G rs7981 0.15427
NM_006348.5(COG5):c.1689T>G (p.Val563=) rs17349904 0.15364
NM_006348.5(COG5):c.1000A>G (p.Ile334Val) rs34087251 0.06004
NM_006348.5(COG5):c.1827C>T (p.Ile609=) rs35581984 0.03303
NG_028095.1(COG5):g.5589G>A rs73419464 0.02557
NM_006348.5(COG5):c.1257A>G (p.Leu419=) rs74443110 0.01554
NM_006348.5(COG5):c.539-17G>A rs150929025 0.01278
NM_006348.5(COG5):c.876T>G (p.Thr292=) rs74522314 0.00898
NM_006348.5(COG5):c.*678T>C rs149142658 0.00618
NM_006348.5(COG5):c.*293T>C rs6958494 0.00577
NM_006348.5(COG5):c.*437A>G rs193127052 0.00506
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys) rs41276187 0.00389
NM_006348.5(COG5):c.735T>A (p.Ile245=) rs116603307 0.00385
NM_006348.5(COG5):c.1262A>G (p.His421Arg) rs35393416 0.00266
NM_006348.5(COG5):c.538+20T>A rs537674225 0.00209
NM_006348.5(COG5):c.790T>A (p.Leu264Ile) rs142276972 0.00201
NM_006348.5(COG5):c.538+21A>T rs568603073 0.00197
NM_006348.5(COG5):c.50G>T (p.Gly17Val) rs139763861 0.00172
NM_006348.5(COG5):c.*157T>C rs188638963 0.00160
NM_006348.5(COG5):c.1776T>C (p.Ala592=) rs142970891 0.00142
NM_006348.5(COG5):c.2124A>G (p.Arg708=) rs148020994 0.00135
NM_006348.5(COG5):c.1160G>A (p.Arg387His) rs35258567 0.00106
NM_006348.5(COG5):c.298C>T (p.Leu100Phe) rs150351852 0.00096
NM_006348.5(COG5):c.451A>G (p.Ile151Val) rs79413133 0.00091
NM_006348.5(COG5):c.1756C>T (p.His586Tyr) rs151129529 0.00086
NM_006348.5(COG5):c.293-18A>G rs75441879 0.00083
NM_006348.5(COG5):c.927T>C (p.His309=) rs140684568 0.00083
NM_006348.5(COG5):c.*550A>G rs538476088 0.00070
NM_006348.5(COG5):c.1037C>T (p.Pro346Leu) rs143773937 0.00067
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr) rs142433421 0.00063
NM_006348.5(COG5):c.1211A>G (p.Gln404Arg) rs189560910 0.00056
NM_006348.5(COG5):c.1290C>A (p.Phe430Leu) rs184902233 0.00056
NM_006348.5(COG5):c.361A>C (p.Ile121Leu) rs138976539 0.00042
NM_006348.5(COG5):c.1475+16A>G rs201100132 0.00039
NM_006348.5(COG5):c.2271C>T (p.Pro757=) rs145648013 0.00039
NM_006348.5(COG5):c.1750-14T>G rs199592702 0.00038
NM_006348.5(COG5):c.1184G>A (p.Arg395His) rs142357535 0.00037
NM_006348.5(COG5):c.2023C>T (p.Arg675Cys) rs149517266 0.00036
NM_006348.5(COG5):c.247C>T (p.His83Tyr) rs149488863 0.00036
NM_006348.5(COG5):c.264A>G (p.Ala88=) rs113660545 0.00036
NM_006348.5(COG5):c.15C>G (p.Gly5=) rs202123650 0.00035
NM_006348.5(COG5):c.1903A>G (p.Lys635Glu) rs140418178 0.00034
NM_006348.5(COG5):c.117C>T (p.Asn39=) rs138518242 0.00029
NM_006348.5(COG5):c.920T>C (p.Met307Thr) rs372882041 0.00029
NM_006348.5(COG5):c.2401T>C (p.Ser801Pro) rs141942249 0.00027
NM_006348.5(COG5):c.2485C>T (p.Gln829Ter) rs549788738 0.00027
NM_006348.5(COG5):c.*865C>G rs540645627 0.00020
NM_006348.5(COG5):c.1725G>A (p.Glu575=) rs145128460 0.00017
NM_006348.5(COG5):c.1789C>T (p.Leu597Phe) rs148575627 0.00017
NM_006348.5(COG5):c.1027-12T>G rs752334970 0.00016
NM_006348.5(COG5):c.1349A>G (p.Tyr450Cys) rs143592207 0.00016
NM_006348.5(COG5):c.2295+8A>G rs377392848 0.00016
NM_006348.5(COG5):c.454T>C (p.Leu152=) rs200107630 0.00016
NM_006348.5(COG5):c.67G>C (p.Ala23Pro) rs146391348 0.00016
NM_006348.5(COG5):c.524G>A (p.Ser175Asn) rs770046536 0.00013
NM_006348.5(COG5):c.2299G>T (p.Ala767Ser) rs184760203 0.00012
NM_006348.5(COG5):c.2232G>A (p.Pro744=) rs374402677 0.00011
NM_006348.5(COG5):c.267A>G (p.Gln89=) rs763508355 0.00011
NM_006348.5(COG5):c.2088A>C (p.Ala696=) rs372319280 0.00010
NM_006348.5(COG5):c.*606A>G rs772464238 0.00009
NM_006348.5(COG5):c.*986G>A rs886061870 0.00009
NM_006348.5(COG5):c.1416G>A (p.Pro472=) rs149574256 0.00009
NM_006348.5(COG5):c.2215T>C (p.Leu739=) rs374796275 0.00009
NM_006348.5(COG5):c.292+14A>G rs374007477 0.00009
NM_006348.5(COG5):c.795C>T (p.Asp265=) rs372226278 0.00009
NM_006348.5(COG5):c.1780C>A (p.Gln594Lys) rs754614179 0.00008
NM_006348.5(COG5):c.768A>T (p.Leu256Phe) rs376958885 0.00008
NM_006348.5(COG5):c.1313+15T>C rs201626650 0.00007
NM_006348.5(COG5):c.1476T>C (p.Ser492=) rs201478249 0.00007
NM_006348.5(COG5):c.1829C>A (p.Thr610Asn) rs760831906 0.00007
NM_006348.5(COG5):c.586A>G (p.Asn196Asp) rs201841638 0.00007
NM_006348.5(COG5):c.2168+9G>A rs746107488 0.00006
NM_006348.5(COG5):c.2169-16T>A rs776440647 0.00006
NM_006348.5(COG5):c.2169-6G>A rs200895224 0.00006
NM_006348.5(COG5):c.2456A>C (p.Gln819Pro) rs34100214 0.00006
NM_006348.5(COG5):c.348-16C>T rs780403880 0.00006
NM_006348.5(COG5):c.1038G>A (p.Pro346=) rs148802109 0.00005
NM_006348.5(COG5):c.2451G>A (p.Met817Ile) rs760038268 0.00005
NM_006348.5(COG5):c.538+5del rs761862013 0.00005
NM_006348.5(COG5):c.796A>T (p.Ile266Leu) rs768338390 0.00005
NC_000007.14:g.107563953A>G rs758429632 0.00004
NM_006348.5(COG5):c.-4C>T rs1371412798 0.00004
NM_006348.5(COG5):c.102T>C (p.Tyr34=) rs777099343 0.00004
NM_006348.5(COG5):c.1198A>G (p.Ser400Gly) rs372144586 0.00004
NM_006348.5(COG5):c.1238C>T (p.Thr413Ile) rs147389453 0.00004
NM_006348.5(COG5):c.1303C>T (p.Pro435Ser) rs759734221 0.00004
NM_006348.5(COG5):c.1343A>G (p.Gln448Arg) rs762315475 0.00004
NM_006348.5(COG5):c.1415C>T (p.Pro472Leu) rs143591444 0.00004
NM_006348.5(COG5):c.141T>C (p.Tyr47=) rs766371051 0.00004
NM_006348.5(COG5):c.1842A>C (p.Glu614Asp) rs772330572 0.00004
NM_006348.5(COG5):c.2272G>A (p.Ala758Thr) rs370066143 0.00004
NM_006348.5(COG5):c.613C>T (p.Arg205Ter) rs370851836 0.00004
NM_006348.5(COG5):c.684C>T (p.Val228=) rs773862978 0.00004
NM_006348.5(COG5):c.907A>G (p.Met303Val) rs1001137054 0.00004
NM_006348.5(COG5):c.948+5A>G rs776326738 0.00004
NM_006348.5(COG5):c.*617A>C rs894757078 0.00003
NM_006348.5(COG5):c.1112C>T (p.Ser371Leu) rs776804916 0.00003
NM_006348.5(COG5):c.1183C>T (p.Arg395Cys) rs376754542 0.00003
NM_006348.5(COG5):c.159T>C (p.His53=) rs368148545 0.00003
NM_006348.5(COG5):c.1750-11T>C rs368740481 0.00003
NM_006348.5(COG5):c.184G>A (p.Ala62Thr) rs375537266 0.00003
NM_006348.5(COG5):c.1853+8C>A rs774900756 0.00003
NM_006348.5(COG5):c.1956T>C (p.Phe652=) rs1358993369 0.00003
NM_006348.5(COG5):c.2092A>G (p.Met698Val) rs749445329 0.00003
NM_006348.5(COG5):c.2433A>C (p.Ala811=) rs775853693 0.00003
NM_006348.5(COG5):c.314C>T (p.Thr105Met) rs755030238 0.00003
NM_006348.5(COG5):c.390C>T (p.Ala130=) rs575783486 0.00003
NM_006348.5(COG5):c.538+8T>G rs1018824602 0.00003
NM_006348.5(COG5):c.614G>A (p.Arg205Gln) rs368331483 0.00003
NM_006348.5(COG5):c.733A>G (p.Ile245Val) rs533220570 0.00003
NM_006348.5(COG5):c.*162T>C rs1000375620 0.00002
NM_006348.5(COG5):c.*247T>C rs886061872 0.00002
NM_006348.5(COG5):c.*409T>C rs912460078 0.00002
NM_006348.5(COG5):c.*634T>C rs527645957 0.00002
NM_006348.5(COG5):c.*867A>G rs1003504113 0.00002
NM_006348.5(COG5):c.-15C>T rs772850481 0.00002
NM_006348.5(COG5):c.1026+4T>C rs748372051 0.00002
NM_006348.5(COG5):c.1027-5C>T rs767208462 0.00002
NM_006348.5(COG5):c.1096A>G (p.Met366Val) rs768962367 0.00002
NM_006348.5(COG5):c.1177T>C (p.Trp393Arg) rs780609950 0.00002
NM_006348.5(COG5):c.154A>G (p.Ile52Val) rs776828196 0.00002
NM_006348.5(COG5):c.1766T>C (p.Met589Thr) rs777200785 0.00002
NM_006348.5(COG5):c.1845C>T (p.Asp615=) rs746373863 0.00002
NM_006348.5(COG5):c.1882G>A (p.Val628Ile) rs541139830 0.00002
NM_006348.5(COG5):c.1906G>A (p.Glu636Lys) rs771961452 0.00002
NM_006348.5(COG5):c.2009T>C (p.Val670Ala) rs773647928 0.00002
NM_006348.5(COG5):c.2021T>C (p.Ile674Thr) rs933746900 0.00002
NM_006348.5(COG5):c.2036T>C (p.Leu679Pro) rs975245291 0.00002
NM_006348.5(COG5):c.2048T>C (p.Leu683Pro) rs558759709 0.00002
NM_006348.5(COG5):c.2122C>T (p.Arg708Ter) rs762675426 0.00002
NM_006348.5(COG5):c.2123G>A (p.Arg708Gln) rs772812050 0.00002
NM_006348.5(COG5):c.216C>T (p.Asp72=) rs143972347 0.00002
NM_006348.5(COG5):c.2261C>T (p.Thr754Met) rs760602600 0.00002
NM_006348.5(COG5):c.2269C>T (p.Pro757Ser) rs148259908 0.00002
NM_006348.5(COG5):c.2295+18G>C rs748577968 0.00002
NM_006348.5(COG5):c.2317C>T (p.Arg773Cys) rs767217808 0.00002
NM_006348.5(COG5):c.2327A>G (p.Gln776Arg) rs149616917 0.00002
NM_006348.5(COG5):c.2479G>C (p.Ala827Pro) rs747809652 0.00002
NM_006348.5(COG5):c.268G>A (p.Ala90Thr) rs773864216 0.00002
NM_006348.5(COG5):c.399A>T (p.Ala133=) rs375237727 0.00002
NM_006348.5(COG5):c.418-6del rs766142910 0.00002
NM_006348.5(COG5):c.551A>G (p.Gln184Arg) rs753818358 0.00002
NM_006348.5(COG5):c.59C>T (p.Ala20Val) rs368239973 0.00002
NM_006348.5(COG5):c.639G>A (p.Lys213=) rs925413684 0.00002
NM_006348.5(COG5):c.679C>A (p.Gln227Lys) rs969075609 0.00002
NM_006348.5(COG5):c.836-4C>A rs1001144225 0.00002
NM_006348.5(COG5):c.847C>T (p.Arg283Ter) rs548774836 0.00002
NM_006348.5(COG5):c.961C>A (p.Gln321Lys) rs370028534 0.00002
NC_000007.14:g.107563941G>A rs1445399193 0.00001
NC_000007.14:g.107563947G>A rs765560840 0.00001
NM_006348.5(COG5):c.*622C>T rs548613467 0.00001
NM_006348.5(COG5):c.*89A>G rs1798504316 0.00001
NM_006348.5(COG5):c.*8A>C rs750444305 0.00001
NM_006348.5(COG5):c.-1C>T rs746011817 0.00001
NM_006348.5(COG5):c.-3A>G rs779868604 0.00001
NM_006348.5(COG5):c.1027-10T>C rs1449874316 0.00001
NM_006348.5(COG5):c.1049A>G (p.Tyr350Cys) rs1388958454 0.00001
NM_006348.5(COG5):c.1071T>C (p.Thr357=) rs773266850 0.00001
NM_006348.5(COG5):c.1073A>G (p.Gln358Arg) rs766011355 0.00001
NM_006348.5(COG5):c.1113G>A (p.Ser371=) rs768870825 0.00001
NM_006348.5(COG5):c.1153T>C (p.Leu385=) rs746295764 0.00001
NM_006348.5(COG5):c.1159del (p.Arg387fs) rs1422285851 0.00001
NM_006348.5(COG5):c.116A>G (p.Asn39Ser) rs141581564 0.00001
NM_006348.5(COG5):c.1191A>G (p.Gln397=) rs758096164 0.00001
NM_006348.5(COG5):c.1240G>A (p.Asp414Asn) rs368514277 0.00001
NM_006348.5(COG5):c.1250T>G (p.Val417Gly) rs773761601 0.00001
NM_006348.5(COG5):c.1314-3C>T rs1432561660 0.00001
NM_006348.5(COG5):c.1381C>T (p.Arg461Ter) rs148069173 0.00001
NM_006348.5(COG5):c.1389C>T (p.Phe463=) rs748974685 0.00001
NM_006348.5(COG5):c.1410T>A (p.Phe470Leu) rs769542319 0.00001
NM_006348.5(COG5):c.1424G>A (p.Arg475His) rs1197475508 0.00001
NM_006348.5(COG5):c.1432C>T (p.Pro478Ser) rs1279772707 0.00001
NM_006348.5(COG5):c.1452T>C (p.Asp484=) rs1228777798 0.00001
NM_006348.5(COG5):c.1475+1G>A rs1465217212 0.00001
NM_006348.5(COG5):c.1535C>G (p.Ala512Gly) rs1037950511 0.00001
NM_006348.5(COG5):c.1569G>A (p.Glu523=) rs1375308939 0.00001
NM_006348.5(COG5):c.1575+17A>G rs775465748 0.00001
NM_006348.5(COG5):c.1687G>T (p.Val563Phe) rs773453129 0.00001
NM_006348.5(COG5):c.1749+7G>A rs906116599 0.00001
NM_006348.5(COG5):c.17G>A (p.Gly6Asp) rs919495599 0.00001
NM_006348.5(COG5):c.1832T>G (p.Met611Arg) rs144172205 0.00001
NM_006348.5(COG5):c.1838A>G (p.Gln613Arg) rs1186643281 0.00001
NM_006348.5(COG5):c.1853+1G>C rs1237315874 0.00001
NM_006348.5(COG5):c.185C>T (p.Ala62Val) rs886061875 0.00001
NM_006348.5(COG5):c.1984A>C (p.Thr662Pro) rs751860643 0.00001
NM_006348.5(COG5):c.206G>A (p.Ser69Asn) rs372287766 0.00001
NM_006348.5(COG5):c.2084T>G (p.Phe695Cys) rs199526957 0.00001
NM_006348.5(COG5):c.210G>A (p.Gln70=) rs779941468 0.00001
NM_006348.5(COG5):c.211T>C (p.Leu71=) rs202088548 0.00001
NM_006348.5(COG5):c.2149C>T (p.Arg717Trp) rs939793014 0.00001
NM_006348.5(COG5):c.2150G>A (p.Arg717Gln) rs373856634 0.00001
NM_006348.5(COG5):c.2173C>T (p.Leu725=) rs547247532 0.00001
NM_006348.5(COG5):c.2212G>T (p.Ala738Ser) rs756618451 0.00001
NM_006348.5(COG5):c.2231C>T (p.Pro744Leu) rs1135401817 0.00001
NM_006348.5(COG5):c.2295+13G>A rs1026401988 0.00001
NM_006348.5(COG5):c.2296-15G>C rs751658237 0.00001
NM_006348.5(COG5):c.2318G>A (p.Arg773His) rs1221934619 0.00001
NM_006348.5(COG5):c.234+14T>C rs553558599 0.00001
NM_006348.5(COG5):c.235-19A>G rs948843542 0.00001
NM_006348.5(COG5):c.2449A>G (p.Met817Val) rs1005257968 0.00001
NM_006348.5(COG5):c.2470G>T (p.Ala824Ser) rs1798514537 0.00001
NM_006348.5(COG5):c.2477C>T (p.Ser826Phe) rs1798513137 0.00001
NM_006348.5(COG5):c.347+19T>C rs754323784 0.00001
NM_006348.5(COG5):c.348-13T>A rs1416698251 0.00001
NM_006348.5(COG5):c.364G>A (p.Val122Ile) rs759063795 0.00001
NM_006348.5(COG5):c.37C>T (p.Leu13Phe) rs1429157275 0.00001
NM_006348.5(COG5):c.417+12C>A rs757628356 0.00001
NM_006348.5(COG5):c.458A>G (p.Asn153Ser) rs1800845136 0.00001
NM_006348.5(COG5):c.486G>A (p.Leu162=) rs759656787 0.00001
NM_006348.5(COG5):c.492G>A (p.Gly164=) rs1302971089 0.00001
NM_006348.5(COG5):c.495A>G (p.Gly165=) rs1282017982 0.00001
NM_006348.5(COG5):c.538+10T>G rs769195866 0.00001
NM_006348.5(COG5):c.60G>A (p.Ala20=) rs374761349 0.00001
NM_006348.5(COG5):c.640C>A (p.Arg214Ser) rs144485187 0.00001
NM_006348.5(COG5):c.670-16C>T rs1189863857 0.00001
NM_006348.5(COG5):c.670-20C>G rs761111529 0.00001
NM_006348.5(COG5):c.707A>G (p.Tyr236Cys) rs777624889 0.00001
NM_006348.5(COG5):c.70A>G (p.Thr24Ala) rs957736001 0.00001
NM_006348.5(COG5):c.784A>T (p.Ser262Cys) rs770563311 0.00001
NM_006348.5(COG5):c.785G>A (p.Ser262Asn) rs1814282526 0.00001
NM_006348.5(COG5):c.818C>G (p.Ser273Cys) rs1202800081 0.00001
NM_006348.5(COG5):c.836-9C>T rs757452204 0.00001
NM_006348.5(COG5):c.839G>T (p.Gly280Val) rs138072101 0.00001
NM_006348.5(COG5):c.858G>A (p.Met286Ile) rs1325740175 0.00001
NM_006348.5(COG5):c.880G>T (p.Ala294Ser) rs745832481 0.00001
NM_006348.5(COG5):c.887G>A (p.Arg296His) rs576854159 0.00001
NM_006348.5(COG5):c.94+10C>G rs1243460444 0.00001
NM_006348.5(COG5):c.94+12G>T rs781367888 0.00001
NM_006348.5(COG5):c.94+3A>G rs374535796 0.00001
NM_006348.5(COG5):c.940T>C (p.Cys314Arg) rs764832638 0.00001
NM_006348.5(COG5):c.949-17C>T rs573722041 0.00001
NM_006348.5(COG5):c.951A>C (p.Val317=) rs1365617209 0.00001
NM_006348.5(COG5):c.963A>G (p.Gln321=) rs375846157 0.00001
NM_006348.5(COG5):c.976A>G (p.Lys326Glu) rs988845762 0.00001
NC_000007.13:g.(?_106843961)_(107053097_?)del
NC_000007.13:g.(?_106876875)_(107013225_?)dup
NC_000007.13:g.(?_106888821)_(106898848_?)dup
NC_000007.13:g.(?_106897157)_(106938811_?)del
NC_000007.13:g.(?_106897157)_(107002885_?)del
NC_000007.13:g.(?_106921725)_(106924197_?)del
NC_000007.13:g.(?_106921725)_(106964986_?)dup
NC_000007.13:g.(?_106964865)_(106964986_?)del
NC_000007.13:g.(?_107002458)_(107002885_?)del
NC_000007.13:g.(?_107002458)_(107053097_?)del
NC_000007.13:g.(?_107052927)_(107053097_?)del
NC_000007.13:g.(?_107167662)_(107167822_?)del
NC_000007.14:g.107563921G>A rs201256361
NC_000007.14:g.107563935G>A rs1245430599
NC_000007.14:g.107563946G>A rs934471777
NC_000007.14:g.107563946G>T rs934471777
NC_000007.14:g.107563960del rs1453226093
NM_006348.3(COG5):c.57T>C (p.Arg19=)
NM_006348.3(COG5):c.59_61CTG[2] (p.Ala22del)
NM_006348.3(COG5):c.62C>G (p.Ala21Gly)
NM_006348.3(COG5):c.66T>C (p.Ala22=)
NM_006348.3(COG5):c.69C>A (p.Asp23Glu)
NM_006348.5(COG5):c.*165C>T rs1798496835
NM_006348.5(COG5):c.*220G>A rs1281689688
NM_006348.5(COG5):c.*237T>C rs577491628
NM_006348.5(COG5):c.*306C>A rs1798486114
NM_006348.5(COG5):c.*468C>A rs886061871
NM_006348.5(COG5):c.*498T>G rs1798468428
NM_006348.5(COG5):c.*52G>A rs937117794
NM_006348.5(COG5):c.*589G>A rs1422526244
NM_006348.5(COG5):c.*612G>A rs6958137
NM_006348.5(COG5):c.*612G>C rs6958137
NM_006348.5(COG5):c.*862C>G rs1258415041
NM_006348.5(COG5):c.-12G>A rs1363800282
NM_006348.5(COG5):c.-13G>T rs915925086
NM_006348.5(COG5):c.-1C>G
NM_006348.5(COG5):c.-20T>A rs762377555
NM_006348.5(COG5):c.-2A>C
NM_006348.5(COG5):c.-8C>T
NM_006348.5(COG5):c.-9C>T
NM_006348.5(COG5):c.1014A>G (p.Glu338=)
NM_006348.5(COG5):c.1015G>T (p.Glu339Ter)
NM_006348.5(COG5):c.1021G>A (p.Val341Ile)
NM_006348.5(COG5):c.1026+12G>A rs1474242413
NM_006348.5(COG5):c.1026+17A>G
NM_006348.5(COG5):c.1027-11G>A
NM_006348.5(COG5):c.1027-12T>C
NM_006348.5(COG5):c.1027-16del rs1165979060
NM_006348.5(COG5):c.1027-17T>C
NM_006348.5(COG5):c.1027G>T (p.Asp343Tyr) rs1240588560
NM_006348.5(COG5):c.1055T>C (p.Phe352Ser) rs2129027601
NM_006348.5(COG5):c.1069A>G (p.Thr357Ala) rs1809589810
NM_006348.5(COG5):c.1072C>G (p.Gln358Glu)
NM_006348.5(COG5):c.1078C>G (p.Leu360Val) rs762031095
NM_006348.5(COG5):c.1078C>T (p.Leu360Phe) rs762031095
NM_006348.5(COG5):c.107A>G (p.Asp36Gly) rs1385437505
NM_006348.5(COG5):c.1089A>G (p.Gln363=)
NM_006348.5(COG5):c.1097T>C (p.Met366Thr)
NM_006348.5(COG5):c.1108+10C>G
NM_006348.5(COG5):c.1108+11T>C
NM_006348.5(COG5):c.1108+13C>T rs772490075
NM_006348.5(COG5):c.1109-18T>C
NM_006348.5(COG5):c.1109-4G>A
NM_006348.5(COG5):c.1115_1123del (p.Met372_Leu374del)
NM_006348.5(COG5):c.1126C>G (p.Gln376Glu) rs775852402
NM_006348.5(COG5):c.115A>G (p.Asn39Asp)
NM_006348.5(COG5):c.1165T>C (p.Tyr389His)
NM_006348.5(COG5):c.1170T>C (p.Asn390=) rs1414561536
NM_006348.5(COG5):c.1179G>A (p.Trp393Ter) rs2116916717
NM_006348.5(COG5):c.1179del (p.Leu392_Trp393insTer)
NM_006348.5(COG5):c.118G>A (p.Glu40Lys) rs781059953
NM_006348.5(COG5):c.1192C>T (p.Gln398Ter)
NM_006348.5(COG5):c.1195T>C (p.Tyr399His)
NM_006348.5(COG5):c.1196A>G (p.Tyr399Cys)
NM_006348.5(COG5):c.1197C>A (p.Tyr399Ter) rs1186766555
NM_006348.5(COG5):c.1224T>C (p.Asn408=)
NM_006348.5(COG5):c.1225G>A (p.Ala409Thr)
NM_006348.5(COG5):c.1227A>G (p.Ala409=)
NM_006348.5(COG5):c.1237A>G (p.Thr413Ala)
NM_006348.5(COG5):c.1239A>G (p.Thr413=)
NM_006348.5(COG5):c.1239A>T (p.Thr413=)
NM_006348.5(COG5):c.1248T>G (p.Tyr416Ter)
NM_006348.5(COG5):c.1264A>G (p.Met422Val)
NM_006348.5(COG5):c.1266G>C (p.Met422Ile) rs778784886
NM_006348.5(COG5):c.1281A>G (p.Gln427=)
NM_006348.5(COG5):c.1284T>C (p.Asp428=)
NM_006348.5(COG5):c.1294C>T (p.Pro432Ser)
NM_006348.5(COG5):c.12C>T (p.Gly4=) rs1222798933
NM_006348.5(COG5):c.1302G>A (p.Lys434=) rs200021706
NM_006348.5(COG5):c.1302G>T (p.Lys434Asn) rs200021706
NM_006348.5(COG5):c.1304C>G (p.Pro435Arg)
NM_006348.5(COG5):c.1305A>G (p.Pro435=) rs929845700
NM_006348.5(COG5):c.1306G>A (p.Asp436Asn)
NM_006348.5(COG5):c.1310A>T (p.Tyr437Phe) rs2116915449
NM_006348.5(COG5):c.1313+14A>G
NM_006348.5(COG5):c.1313+4T>C
NM_006348.5(COG5):c.1313_1313+5del
NM_006348.5(COG5):c.1314-15dup
NM_006348.5(COG5):c.1314-4A>G rs2116814535
NM_006348.5(COG5):c.1314-6C>A
NM_006348.5(COG5):c.1326T>A (p.Ala442=)
NM_006348.5(COG5):c.1340T>G (p.Leu447Arg)
NM_006348.5(COG5):c.1341A>G (p.Leu447=)
NM_006348.5(COG5):c.1344A>G (p.Gln448=) rs777072585
NM_006348.5(COG5):c.1350T>C (p.Tyr450=) rs1805375974
NM_006348.5(COG5):c.1353G>A (p.Glu451=)
NM_006348.5(COG5):c.1365A>G (p.Leu455=)
NM_006348.5(COG5):c.137C>T (p.Thr46Ile) rs542344548
NM_006348.5(COG5):c.1410dup (p.Pro471fs)
NM_006348.5(COG5):c.1412C>T (p.Pro471Leu) rs2116813555
NM_006348.5(COG5):c.1415dup (p.Gly474fs) rs773281248
NM_006348.5(COG5):c.1417G>A (p.Gly473Ser)
NM_006348.5(COG5):c.1421G>T (p.Gly474Val)
NM_006348.5(COG5):c.1430C>G (p.Pro477Arg) rs1805365099
NM_006348.5(COG5):c.1450G>C (p.Asp484His)
NM_006348.5(COG5):c.1471G>A (p.Ala491Thr)
NM_006348.5(COG5):c.1475+3A>G
NM_006348.5(COG5):c.1476-14T>G
NM_006348.5(COG5):c.1476-19C>T rs562431916
NM_006348.5(COG5):c.1476-4C>T
NM_006348.5(COG5):c.1476-7dup rs774912830
NM_006348.5(COG5):c.1482A>G (p.Leu494=)
NM_006348.5(COG5):c.1485T>C (p.Asn495=)
NM_006348.5(COG5):c.150A>G (p.Gln50=)
NM_006348.5(COG5):c.1511C>T (p.Thr504Ile)
NM_006348.5(COG5):c.1534G>A (p.Ala512Thr)
NM_006348.5(COG5):c.1539G>C (p.Lys513Asn) rs1805147503
NM_006348.5(COG5):c.1541C>T (p.Thr514Ile) rs2116796211
NM_006348.5(COG5):c.1552T>C (p.Tyr518His) rs776229547
NM_006348.5(COG5):c.1554C>T (p.Tyr518=)
NM_006348.5(COG5):c.1556G>C (p.Ser519Thr) rs2116796050
NM_006348.5(COG5):c.1558G>A (p.Val520Ile) rs2116795993
NM_006348.5(COG5):c.1561A>G (p.Lys521Glu) rs768443334
NM_006348.5(COG5):c.1566A>G (p.Ser522=)
NM_006348.5(COG5):c.1570C>T (p.Gln524Ter)
NM_006348.5(COG5):c.1575+13_1575+16del
NM_006348.5(COG5):c.15C>T (p.Gly5=) rs202123650
NM_006348.5(COG5):c.165T>C (p.Ala55=) rs2129179500
NM_006348.5(COG5):c.166G>A (p.Val56Ile)
NM_006348.5(COG5):c.1687-7G>A rs1265604878
NM_006348.5(COG5):c.1694C>T (p.Ser565Phe)
NM_006348.5(COG5):c.1695C>T (p.Ser565=)
NM_006348.5(COG5):c.1719A>G (p.Ala573=) rs1802913835
NM_006348.5(COG5):c.1724A>T (p.Glu575Val)
NM_006348.5(COG5):c.1736T>C (p.Ile579Thr) rs753306021
NM_006348.5(COG5):c.1744C>G (p.Leu582Val)
NM_006348.5(COG5):c.1746A>G (p.Leu582=)
NM_006348.5(COG5):c.1748A>G (p.Lys583Arg) rs1198193243
NM_006348.5(COG5):c.1749+7G>T
NM_006348.5(COG5):c.1750-13T>A
NM_006348.5(COG5):c.1750-19del
NM_006348.5(COG5):c.1750-20T>G
NM_006348.5(COG5):c.1750-20dup rs763434588
NM_006348.5(COG5):c.1750-3del
NM_006348.5(COG5):c.1750-3dup rs746706902
NM_006348.5(COG5):c.1766T>A (p.Met589Lys) rs777200785
NM_006348.5(COG5):c.1773T>C (p.Asn591=) rs1261977502
NM_006348.5(COG5):c.1776T>A (p.Ala592=)
NM_006348.5(COG5):c.1779G>T (p.Val593=) rs2116550198
NM_006348.5(COG5):c.1783C>A (p.Pro595Thr) rs1802220416
NM_006348.5(COG5):c.1783C>G (p.Pro595Ala) rs1802220416
NM_006348.5(COG5):c.178C>A (p.Gln60Lys)
NM_006348.5(COG5):c.1791_1794del (p.Thr598fs) rs771651520
NM_006348.5(COG5):c.1792A>C (p.Thr598Pro)
NM_006348.5(COG5):c.1808C>T (p.Ala603Val)
NM_006348.5(COG5):c.180A>G (p.Gln60=) rs1803456564
NM_006348.5(COG5):c.1831A>G (p.Met611Val)
NM_006348.5(COG5):c.1839A>G (p.Gln613=)
NM_006348.5(COG5):c.1841A>G (p.Glu614Gly)
NM_006348.5(COG5):c.1854-16G>A
NM_006348.5(COG5):c.1869A>G (p.Ser623=)
NM_006348.5(COG5):c.1869A>T (p.Ser623=) rs200289261
NM_006348.5(COG5):c.1896G>A (p.Leu632=)
NM_006348.5(COG5):c.18C>T (p.Gly6=) rs776167636
NM_006348.5(COG5):c.1900A>T (p.Met634Leu) rs746657630
NM_006348.5(COG5):c.1901T>C (p.Met634Thr) rs1038024684
NM_006348.5(COG5):c.1902_1904delinsCTT (p.Met634_Lys635delinsIleLeu)
NM_006348.5(COG5):c.1911A>G (p.Leu637=)
NM_006348.5(COG5):c.1914A>G (p.Gln638=)
NM_006348.5(COG5):c.1916G>A (p.Gly639Asp) rs757204685
NM_006348.5(COG5):c.1916G>T (p.Gly639Val)
NM_006348.5(COG5):c.192T>C (p.Leu64=)
NM_006348.5(COG5):c.193G>T (p.Ala65Ser)
NM_006348.5(COG5):c.1952A>C (p.His651Pro)
NM_006348.5(COG5):c.1993A>G (p.Ile665Val) rs1262175069
NM_006348.5(COG5):c.1A>G (p.Met1Val) rs1804241289
NM_006348.5(COG5):c.2030C>A (p.Ala677Asp) rs778785040
NM_006348.5(COG5):c.2038A>G (p.Ile680Val)
NM_006348.5(COG5):c.2038A>T (p.Ile680Leu) rs777624204
NM_006348.5(COG5):c.2056G>C (p.Gly686Arg) rs2116455775
NM_006348.5(COG5):c.2067G>T (p.Met689Ile) rs2116455716
NM_006348.5(COG5):c.2068C>T (p.Arg690Ter)
NM_006348.5(COG5):c.2078C>T (p.Ala693Val) rs751843896
NM_006348.5(COG5):c.2089C>G (p.Gln697Glu) rs1031677638
NM_006348.5(COG5):c.2091+4_2091+11del
NM_006348.5(COG5):c.2091+6T>C
NM_006348.5(COG5):c.2092-15A>G
NM_006348.5(COG5):c.2092-17A>G
NM_006348.5(COG5):c.2098T>C (p.Leu700=) rs757640217
NM_006348.5(COG5):c.2101G>A (p.Ala701Thr) rs2116403733
NM_006348.5(COG5):c.2104G>C (p.Val702Leu) rs398124222
NM_006348.5(COG5):c.2112A>C (p.Pro704=)
NM_006348.5(COG5):c.2112A>G (p.Pro704=)
NM_006348.5(COG5):c.2115C>T (p.Phe705=)
NM_006348.5(COG5):c.2129_2131del (p.Ser710_Asp711delinsTyr) rs2116403276
NM_006348.5(COG5):c.2151G>C (p.Arg717=)
NM_006348.5(COG5):c.2152A>T (p.Met718Leu) rs113517604
NM_006348.5(COG5):c.2167del (p.Arg723fs) rs2116402799
NM_006348.5(COG5):c.2168+2T>A
NM_006348.5(COG5):c.2168+8C>A
NM_006348.5(COG5):c.2168G>A (p.Arg723Lys)
NM_006348.5(COG5):c.2169-10del rs763138814
NM_006348.5(COG5):c.2169-17_2169-16del
NM_006348.5(COG5):c.2175G>A (p.Leu725=)
NM_006348.5(COG5):c.2186C>G (p.Ala729Gly)
NM_006348.5(COG5):c.2194C>T (p.His732Tyr) rs746743097
NM_006348.5(COG5):c.2196T>C (p.His732=)
NM_006348.5(COG5):c.2202C>T (p.Ala734=)
NM_006348.5(COG5):c.2204G>T (p.Ser735Ile) rs150808289
NM_006348.5(COG5):c.220G>T (p.Glu74Ter) rs1803451815
NM_006348.5(COG5):c.2214A>T (p.Ala738=)
NM_006348.5(COG5):c.2215T>A (p.Leu739Met) rs374796275
NM_006348.5(COG5):c.2219G>A (p.Gly740Glu)
NM_006348.5(COG5):c.2221G>C (p.Asp741His) rs114023726
NM_006348.5(COG5):c.2234dup (p.Ser746fs) rs2116202376
NM_006348.5(COG5):c.2241C>T (p.Ile747=)
NM_006348.5(COG5):c.2242ATT[3] (p.Ile749dup) rs751641438
NM_006348.5(COG5):c.2244T>C (p.Ile748=)
NM_006348.5(COG5):c.2259C>T (p.Phe753=)
NM_006348.5(COG5):c.2263A>T (p.Arg755Ter) rs2116201860
NM_006348.5(COG5):c.2274T>G (p.Ala758=)
NM_006348.5(COG5):c.2280G>C (p.Leu760=)
NM_006348.5(COG5):c.2283A>G (p.Lys761=)
NM_006348.5(COG5):c.2295+20C>A
NM_006348.5(COG5):c.2295G>T (p.Gln765His) rs1212652543
NM_006348.5(COG5):c.2296-17G>A
NM_006348.5(COG5):c.2296-18T>C
NM_006348.5(COG5):c.2296-4G>T
NM_006348.5(COG5):c.2296-6C>G
NM_006348.5(COG5):c.2296-7C>G rs778380856
NM_006348.5(COG5):c.2296-7C>T
NM_006348.5(COG5):c.2304G>C (p.Glu768Asp)
NM_006348.5(COG5):c.2309C>T (p.Ser770Phe)
NM_006348.5(COG5):c.2335G>A (p.Asp779Asn)
NM_006348.5(COG5):c.234+18G>C rs2129179413
NM_006348.5(COG5):c.234+9G>T
NM_006348.5(COG5):c.2346A>T (p.Pro782=) rs2116193767
NM_006348.5(COG5):c.2347T>C (p.Ser783Pro) rs773449359
NM_006348.5(COG5):c.235-10dup rs778522810
NM_006348.5(COG5):c.235-15A>G
NM_006348.5(COG5):c.235-20C>A
NM_006348.5(COG5):c.235-20_235-18del
NM_006348.5(COG5):c.235-9G>T
NM_006348.5(COG5):c.2352A>T (p.Glu784Asp) rs2116193691
NM_006348.5(COG5):c.2360G>T (p.Arg787Met) rs761946629
NM_006348.5(COG5):c.2361G>A (p.Arg787=)
NM_006348.5(COG5):c.2364C>T (p.Leu788=) rs2116193413
NM_006348.5(COG5):c.2375+12T>C
NM_006348.5(COG5):c.2375+15T>C
NM_006348.5(COG5):c.2375+7C>T
NM_006348.5(COG5):c.2375G>A (p.Arg792Lys) rs2116193173
NM_006348.5(COG5):c.2376-20_2376-17dup
NM_006348.5(COG5):c.237del (p.Val80fs) rs1330009938
NM_006348.5(COG5):c.2390C>G (p.Ala797Gly) rs1228532042
NM_006348.5(COG5):c.2390C>T (p.Ala797Val) rs1228532042
NM_006348.5(COG5):c.2399A>G (p.Gln800Arg) rs762082725
NM_006348.5(COG5):c.2412T>C (p.Ser804=)
NM_006348.5(COG5):c.2415A>T (p.Arg805Ser)
NM_006348.5(COG5):c.2425G>T (p.Glu809Ter) rs1798520770
NM_006348.5(COG5):c.2433A>T (p.Ala811=) rs775853693
NM_006348.5(COG5):c.244A>G (p.Arg82Gly)
NM_006348.5(COG5):c.2452G>C (p.Val818Leu) rs2116084715
NM_006348.5(COG5):c.2456A>G (p.Gln819Arg) rs34100214
NM_006348.5(COG5):c.2458C>T (p.Leu820=)
NM_006348.5(COG5):c.2473A>C (p.Met825Leu) rs2116084157
NM_006348.5(COG5):c.2473_2474del (p.Met825fs) rs777167502
NM_006348.5(COG5):c.2481T>A (p.Ala827=)
NM_006348.5(COG5):c.2481T>C (p.Ala827=) rs563267149
NM_006348.5(COG5):c.2482C>T (p.Leu828Phe)
NM_006348.5(COG5):c.2483T>G (p.Leu828Arg)
NM_006348.5(COG5):c.24C>A (p.Val8=)
NM_006348.5(COG5):c.24C>G (p.Val8=)
NM_006348.5(COG5):c.24C>T (p.Val8=)
NM_006348.5(COG5):c.270A>G (p.Ala90=)
NM_006348.5(COG5):c.285G>A (p.Ser95=) rs746581392
NM_006348.5(COG5):c.292+10T>C
NM_006348.5(COG5):c.292+6_292+14del
NM_006348.5(COG5):c.293-11T>C
NM_006348.5(COG5):c.293-12_293-11del
NM_006348.5(COG5):c.29T>A (p.Val10Glu)
NM_006348.5(COG5):c.29T>C (p.Val10Ala)
NM_006348.5(COG5):c.2T>C (p.Met1Thr) rs375702393
NM_006348.5(COG5):c.2T>G (p.Met1Arg) rs375702393
NM_006348.5(COG5):c.30A>C (p.Val10=)
NM_006348.5(COG5):c.30A>G (p.Val10=)
NM_006348.5(COG5):c.30_36del (p.Ala11fs) rs2129184409
NM_006348.5(COG5):c.315G>A (p.Thr105=)
NM_006348.5(COG5):c.320T>C (p.Ile107Thr)
NM_006348.5(COG5):c.326C>T (p.Ala109Val) rs758820507
NM_006348.5(COG5):c.332A>T (p.Gln111Leu) rs1437532814
NM_006348.5(COG5):c.347+6G>A
NM_006348.5(COG5):c.347+8T>A rs1802611356
NM_006348.5(COG5):c.347G>C (p.Arg116Thr) rs1802613005
NM_006348.5(COG5):c.348-19dup
NM_006348.5(COG5):c.348-9_348-8del
NM_006348.5(COG5):c.372A>G (p.Pro124=)
NM_006348.5(COG5):c.376A>C (p.Asn126His) rs1802592284
NM_006348.5(COG5):c.387T>C (p.Val129=)
NM_006348.5(COG5):c.396T>C (p.Thr132=)
NM_006348.5(COG5):c.39C>T (p.Leu13=)
NM_006348.5(COG5):c.411A>G (p.Arg137=) rs747083048
NM_006348.5(COG5):c.417+11A>T
NM_006348.5(COG5):c.417+15T>C
NM_006348.5(COG5):c.417+4G>C
NM_006348.5(COG5):c.417+8C>T
NM_006348.5(COG5):c.418-17T>C
NM_006348.5(COG5):c.418-1G>T
NM_006348.5(COG5):c.418-2A>C
NM_006348.5(COG5):c.418-4A>G
NM_006348.5(COG5):c.42A>T (p.Gly14=)
NM_006348.5(COG5):c.434T>G (p.Leu145Arg)
NM_006348.5(COG5):c.436C>T (p.Arg146Trp)
NM_006348.5(COG5):c.437G>A (p.Arg146Gln)
NM_006348.5(COG5):c.437G>C (p.Arg146Pro)
NM_006348.5(COG5):c.43G>C (p.Ala15Pro)
NM_006348.5(COG5):c.442A>G (p.Ile148Val)
NM_006348.5(COG5):c.44C>G (p.Ala15Gly) rs1804227263
NM_006348.5(COG5):c.452_453delinsAA (p.Ile151Lys) rs2129156929
NM_006348.5(COG5):c.463_467delinsCT (p.Ser155_Lys156delinsLeu) rs1800843840
NM_006348.5(COG5):c.46C>T (p.Arg16Ter)
NM_006348.5(COG5):c.47G>A (p.Arg16Gln) rs781711867
NM_006348.5(COG5):c.482A>G (p.Gln161Arg) rs141580311
NM_006348.5(COG5):c.487C>T (p.Gln163Ter) rs1231928102
NM_006348.5(COG5):c.513A>G (p.Lys171=) rs1178585946
NM_006348.5(COG5):c.519T>C (p.Ala173=)
NM_006348.5(COG5):c.51C>T (p.Gly17=)
NM_006348.5(COG5):c.534A>G (p.Glu178=) rs765689232
NM_006348.5(COG5):c.538+20del rs201626701
NM_006348.5(COG5):c.538+5G>T
NM_006348.5(COG5):c.538+6dup rs201626701
NM_006348.5(COG5):c.539-18T>C
NM_006348.5(COG5):c.539-2A>G
NM_006348.5(COG5):c.542A>G (p.Tyr181Cys)
NM_006348.5(COG5):c.548C>G (p.Ser183Cys)
NM_006348.5(COG5):c.556A>G (p.Ile186Val)
NM_006348.5(COG5):c.557T>C (p.Ile186Thr) rs2129067260
NM_006348.5(COG5):c.563T>C (p.Leu188Pro) rs1563018594
NM_006348.5(COG5):c.571A>G (p.Ile191Val)
NM_006348.5(COG5):c.575A>G (p.Glu192Gly)
NM_006348.5(COG5):c.585A>G (p.Glu195=)
NM_006348.5(COG5):c.590A>T (p.Asp197Val)
NM_006348.5(COG5):c.591T>A (p.Asp197Glu)
NM_006348.5(COG5):c.592C>T (p.Leu198=)
NM_006348.5(COG5):c.594A>C (p.Leu198=)
NM_006348.5(COG5):c.5A>G (p.Glu2Gly)
NM_006348.5(COG5):c.610G>A (p.Ala204Thr)
NM_006348.5(COG5):c.611_613delinsTAGTGGAATT (p.Ala204fs) rs1563018529
NM_006348.5(COG5):c.612C>T (p.Ala204=) rs1792383808
NM_006348.5(COG5):c.616C>T (p.Leu206Phe) rs1792382468
NM_006348.5(COG5):c.628A>T (p.Asn210Tyr) rs2129067191
NM_006348.5(COG5):c.638A>G (p.Lys213Arg)
NM_006348.5(COG5):c.640C>T (p.Arg214Cys) rs144485187
NM_006348.5(COG5):c.646C>G (p.Leu216Val) rs1584789628
NM_006348.5(COG5):c.652C>T (p.Gln218Ter)
NM_006348.5(COG5):c.656G>T (p.Gly219Val) rs760642504
NM_006348.5(COG5):c.660G>A (p.Leu220=)
NM_006348.5(COG5):c.666T>C (p.Thr222=)
NM_006348.5(COG5):c.669+10A>G rs886061874
NM_006348.5(COG5):c.669+18_669+19del rs10579767
NM_006348.5(COG5):c.669+1G>T rs1792377306
NM_006348.5(COG5):c.669+5_669+7del rs757035635
NM_006348.5(COG5):c.669+9A>C rs774414370
NM_006348.5(COG5):c.669+9A>T rs774414370
NM_006348.5(COG5):c.670-19C>T
NM_006348.5(COG5):c.670-25CCACC[4] rs1814298466
NM_006348.5(COG5):c.670-4dup
NM_006348.5(COG5):c.670-9T>G rs565990382
NM_006348.5(COG5):c.672T>C (p.Asn224=) rs2129050171
NM_006348.5(COG5):c.676A>G (p.Thr226Ala)
NM_006348.5(COG5):c.682G>C (p.Val228Leu)
NM_006348.5(COG5):c.686G>A (p.Gly229Glu)
NM_006348.5(COG5):c.68C>G (p.Ala23Gly) rs2129184361
NM_006348.5(COG5):c.697C>T (p.Gln233Ter)
NM_006348.5(COG5):c.697del (p.Gln233fs)
NM_006348.5(COG5):c.729_730dup (p.Thr244fs) rs1289836014
NM_006348.5(COG5):c.739A>G (p.Ser247Gly) rs1261586682
NM_006348.5(COG5):c.747G>T (p.Val249=)
NM_006348.5(COG5):c.762T>A (p.Ala254=)
NM_006348.5(COG5):c.767T>C (p.Leu256Ser)
NM_006348.5(COG5):c.776A>G (p.Asn259Ser) rs2129050118
NM_006348.5(COG5):c.780C>A (p.Ile260=)
NM_006348.5(COG5):c.780C>T (p.Ile260=) rs764388205
NM_006348.5(COG5):c.787G>A (p.Ala263Thr)
NM_006348.5(COG5):c.802G>T (p.Val268Phe) rs2129050098
NM_006348.5(COG5):c.811C>T (p.Gln271Ter)
NM_006348.5(COG5):c.81del (p.Glu27fs) rs777937112
NM_006348.5(COG5):c.826G>A (p.Ala276Thr) rs2129050090
NM_006348.5(COG5):c.827C>G (p.Ala276Gly) rs2129050089
NM_006348.5(COG5):c.82C>A (p.Leu28Ile)
NM_006348.5(COG5):c.832A>T (p.Arg278Ter)
NM_006348.5(COG5):c.835+12G>A
NM_006348.5(COG5):c.835+4T>C rs915388047
NM_006348.5(COG5):c.835+6G>A rs2129050084
NM_006348.5(COG5):c.835+8T>C rs2129050082
NM_006348.5(COG5):c.836-11C>T rs886061873
NM_006348.5(COG5):c.837G>C (p.Gly279=)
NM_006348.5(COG5):c.839G>A (p.Gly280Glu) rs138072101
NM_006348.5(COG5):c.846A>G (p.Gly282=)
NM_006348.5(COG5):c.851C>G (p.Ser284Cys)
NM_006348.5(COG5):c.852T>C (p.Ser284=) rs2129046289
NM_006348.5(COG5):c.856_857delinsTG (p.Met286Trp) rs2129046287
NM_006348.5(COG5):c.878C>T (p.Ala293Val) rs2129046276
NM_006348.5(COG5):c.906T>C (p.Asn302=)
NM_006348.5(COG5):c.924T>C (p.Asp308=)
NM_006348.5(COG5):c.936del (p.Val313fs)
NM_006348.5(COG5):c.93C>T (p.Asp31=)
NM_006348.5(COG5):c.94+14del rs1263454350
NM_006348.5(COG5):c.94+8G>A
NM_006348.5(COG5):c.941G>T (p.Cys314Phe)
NM_006348.5(COG5):c.948+12A>T rs763696416
NM_006348.5(COG5):c.95-12T>G
NM_006348.5(COG5):c.95-12del rs2129179571
NM_006348.5(COG5):c.95-17T>A
NM_006348.5(COG5):c.95-5T>A
NM_006348.5(COG5):c.955_963del (p.His319_Gln321del) rs2129046150
NM_006348.5(COG5):c.958C>A (p.Leu320Ile) rs2129046155
NM_006348.5(COG5):c.959T>C (p.Leu320Pro) rs1584729488
NM_006348.5(COG5):c.961C>T (p.Gln321Ter) rs370028534
NM_006348.5(COG5):c.96del (p.Cys33Valfs) rs1554464495
NM_006348.5(COG5):c.977A>G (p.Lys326Arg) rs1214496373
NM_006348.5(COG5):c.981G>A (p.Lys327=)
NM_006348.5(COG5):c.99T>C (p.Cys33=)

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