ClinVar Miner

List of variants studied for Non-ketotic hyperglycinemia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2950
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HGVS dbSNP gnomAD frequency
NM_004483.5(GCSH):c.62C>T (p.Ser21Leu) rs8052579 0.79247
NM_000170.3(GLDC):c.*540C>T rs7848919 0.70462
NM_000170.3(GLDC):c.*473C>T rs1061407 0.67774
NM_000170.3(GLDC):c.*7G>C rs2228098 0.66615
NM_000170.3(GLDC):c.1850+87T>A rs968197 0.52530
NM_000170.3(GLDC):c.2839-57A>G rs2282160 0.42304
NM_000481.4(AMT):c.259-109T>G rs4855873 0.42055
NM_000481.4(AMT):c.*696C>T rs10640 0.29031
NM_000481.4(AMT):c.954G>A (p.Arg318=) rs11715915 0.28593
NM_000170.3(GLDC):c.2315+80C>G rs12683164 0.27069
NM_000170.3(GLDC):c.1261+72G>A rs6477094 0.25439
NM_000170.3(GLDC):c.501G>A (p.Glu167=) rs35374927 0.22564
NM_000170.3(GLDC):c.249G>A (p.Gly83=) rs12341698 0.21682
NM_000170.3(GLDC):c.1261+36A>G rs11789777 0.20837
NM_000170.3(GLDC):c.660C>T (p.Leu220=) rs2228095 0.07130
NM_000170.3(GLDC):c.438G>A (p.Thr146=) rs13289273 0.06458
NM_004483.5(GCSH):c.159C>T (p.Phe53=) rs8177876 0.05863
NM_000170.3(GLDC):c.1384C>G (p.Leu462Val) rs73400312 0.04004
NM_004483.5(GCSH):c.252T>C (p.Tyr84=) rs8177907 0.03948
NM_004483.5(GCSH):c.261C>G (p.Leu87=) rs8177908 0.03948
NM_004483.5(GCSH):c.218A>G (p.Asn73Ser) rs8177877 0.03699
NM_004483.5(GCSH):c.90C>G (p.Pro30=) rs8177847 0.03370
NM_000170.3(GLDC):c.666T>C (p.Asp222=) rs12004164 0.02547
NM_000170.3(GLDC):c.1155+43C>T rs7040427 0.02526
NM_000170.3(GLDC):c.1482+19T>C rs79114789 0.02433
NM_000170.3(GLDC):c.-186del rs140030144 0.02402
NM_000170.3(GLDC):c.671G>A (p.Arg224His) rs28617412 0.02214
NM_000170.2(GLDC):c.*557C>G rs73639311 0.01818
NM_000170.3(GLDC):c.1815C>T (p.Leu605=) rs74461075 0.01328
NM_000170.3(GLDC):c.2203-19G>A rs13440229 0.01223
NM_000170.3(GLDC):c.*257G>A rs111326356 0.00972
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290 0.00735
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr) rs141933811 0.00728
NM_000170.3(GLDC):c.319A>G (p.Met107Val) rs138454333 0.00707
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys) rs535143891 0.00670
NM_000170.3(GLDC):c.2203G>T (p.Val735Leu) rs143119940 0.00650
NM_000170.3(GLDC):c.2919+3A>G rs73639325 0.00620
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly) rs141014950 0.00580
NM_004483.5(GCSH):c.292+9T>G rs8177909 0.00574
NM_000170.3(GLDC):c.1707+8G>A rs144666843 0.00464
NM_000170.3(GLDC):c.1261+19T>C rs192870343 0.00431
NM_000170.3(GLDC):c.2457+8C>T rs147308839 0.00421
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_000170.3(GLDC):c.2113G>A (p.Val705Met) rs147275962 0.00405
NM_000481.4(AMT):c.898A>G (p.Met300Val) rs144971200 0.00397
NM_004483.5(GCSH):c.148+15C>T rs544589105 0.00355
NM_000170.3(GLDC):c.678C>T (p.His226=) rs12006003 0.00338
NM_000481.4(AMT):c.-1G>A rs143841175 0.00328
NM_004483.5(GCSH):c.53C>T (p.Ala18Val) rs540997326 0.00326
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln) rs141246107 0.00299
NM_000170.3(GLDC):c.2053-5C>G rs140877566 0.00278
NM_000170.3(GLDC):c.*115A>T rs148273307 0.00276
NM_000170.3(GLDC):c.1331G>A (p.Cys444Tyr) rs142099123 0.00261
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys) rs144090917 0.00234
NM_000170.3(GLDC):c.2487C>T (p.Ala829=) rs141806715 0.00213
NM_000170.3(GLDC):c.1156-7C>G rs150095531 0.00208
NM_000170.3(GLDC):c.2748G>A (p.Leu916=) rs139982267 0.00203
NM_000170.3(GLDC):c.2683A>G (p.Met895Val) rs141152043 0.00200
NM_000170.3(GLDC):c.40C>A (p.Arg14Ser) rs182760732 0.00197
NM_000170.3(GLDC):c.1927-9A>G rs41281773 0.00180
NM_000481.4(AMT):c.*130G>T rs143731179 0.00149
NM_000481.4(AMT):c.*545C>T rs114057053 0.00144
NM_000170.3(GLDC):c.*229C>G rs184498089 0.00135
NM_000170.3(GLDC):c.2955G>A (p.Thr985=) rs142004524 0.00131
NM_000170.3(GLDC):c.1618A>C (p.Lys540Gln) rs140516872 0.00127
NM_000481.4(AMT):c.*416C>T rs571207015 0.00114
NM_000170.3(GLDC):c.2988G>C (p.Gln996His) rs138640017 0.00112
NM_000170.3(GLDC):c.498T>C (p.Pro166=) rs150193069 0.00110
NM_000170.3(GLDC):c.*236G>T rs537707294 0.00102
NM_000170.3(GLDC):c.1401+9A>G rs75555848 0.00097
NM_032316.3(NICN1):c.*2307G>C rs544461335 0.00097
NM_000170.3(GLDC):c.222C>T (p.Asp74=) rs148373517 0.00096
NM_000170.3(GLDC):c.2964G>A (p.Arg988=) rs146045718 0.00095
NM_000481.4(AMT):c.510G>C (p.Val170=) rs140380954 0.00091
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile) rs148540696 0.00078
NM_000481.4(AMT):c.354G>A (p.Leu118=) rs145194293 0.00072
NM_000170.3(GLDC):c.2730G>A (p.Ser910=) rs144937031 0.00061
NM_000170.3(GLDC):c.936C>T (p.Ile312=) rs79057118 0.00058
NM_000481.4(AMT):c.*678C>G rs779703869 0.00057
NM_000170.3(GLDC):c.470+11T>C rs142534180 0.00051
NM_000170.3(GLDC):c.2328C>T (p.Leu776=) rs149600380 0.00049
NM_004483.5(GCSH):c.33C>T (p.Ala11=) rs760969799 0.00049
NM_000170.3(GLDC):c.1155+91C>T rs779753406 0.00047
NM_000170.3(GLDC):c.45G>A (p.Gly15=) rs577986419 0.00045
NM_000170.3(GLDC):c.*188C>T rs577665662 0.00044
NM_000170.3(GLDC):c.166C>T (p.Leu56Phe) rs374342418 0.00044
NM_000170.3(GLDC):c.2202+19C>T rs187370615 0.00041
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000170.3(GLDC):c.698T>C (p.Val233Ala) rs140013612 0.00034
NM_000170.3(GLDC):c.2147T>A (p.Leu716His) rs145018304 0.00032
NM_000170.3(GLDC):c.471-14T>C rs374248745 0.00032
NM_000481.4(AMT):c.101G>A (p.Arg34His) rs138259479 0.00032
NM_000170.3(GLDC):c.*235T>G rs749941145 0.00031
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu) rs149133229 0.00031
NM_000481.4(AMT):c.825T>A (p.Asn275Lys) rs144241950 0.00031
NM_004483.5(GCSH):c.72G>T (p.Ala24=) rs1010129827 0.00031
NM_000170.3(GLDC):c.329C>A (p.Pro110His) rs371491621 0.00029
NM_000170.3(GLDC):c.124G>A (p.Gly42Arg) rs190430477 0.00028
NM_000170.3(GLDC):c.2874C>T (p.Ser958=) rs146339375 0.00028
NM_000170.3(GLDC):c.619C>G (p.Leu207Val) rs142181803 0.00027
NM_000170.3(GLDC):c.2126A>G (p.Asn709Ser) rs150943866 0.00026
NM_000170.3(GLDC):c.-31C>A rs964863986 0.00024
NM_000170.3(GLDC):c.2316-13A>C rs200931138 0.00024
NM_000481.4(AMT):c.152C>T (p.Ala51Val) rs34812788 0.00024
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125 0.00024
NM_000170.3(GLDC):c.48C>T (p.Val16=) rs1262283551 0.00023
NM_000481.4(AMT):c.697-3C>T rs373703503 0.00022
NM_000170.3(GLDC):c.1932C>T (p.Cys644=) rs111348076 0.00021
NM_000170.3(GLDC):c.2097C>T (p.Tyr699=) rs149694787 0.00021
NM_032316.3(NICN1):c.*2247T>C rs750502117 0.00021
NM_000170.3(GLDC):c.1530G>A (p.Gly510=) rs145665442 0.00019
NM_000170.3(GLDC):c.2244G>A (p.Ser748=) rs372693840 0.00019
NM_000170.3(GLDC):c.2570-10T>C rs373987254 0.00019
NM_000170.3(GLDC):c.1581-5C>T rs184463452 0.00018
NM_000481.4(AMT):c.1136A>C (p.Glu379Ala) rs201189946 0.00018
NM_000170.3(GLDC):c.2307C>T (p.Pro769=) rs565834029 0.00017
NM_000170.3(GLDC):c.2352C>T (p.Pro784=) rs367781728 0.00017
NM_000481.4(AMT):c.*424G>C rs746995778 0.00017
NM_000481.4(AMT):c.363C>T (p.Asn121=) rs367604855 0.00017
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile) rs121964974 0.00016
NM_000170.3(GLDC):c.2024A>C (p.Asn675Thr) rs749513146 0.00016
NM_000170.3(GLDC):c.700C>G (p.Gln234Glu) rs150698281 0.00016
NM_000481.4(AMT):c.*163G>C rs200568631 0.00016
NM_000170.3(GLDC):c.110G>A (p.Ser37Asn) rs763471932 0.00014
NM_000170.3(GLDC):c.1155+11C>T rs369664085 0.00014
NM_000170.3(GLDC):c.1974C>A (p.Ala658=) rs534062853 0.00014
NM_000481.4(AMT):c.858C>A (p.Gly286=) rs367726589 0.00014
NM_004483.5(GCSH):c.89C>T (p.Pro30Leu) rs1003539348 0.00014
NM_000170.3(GLDC):c.1851-9C>G rs377751310 0.00013
NM_000170.3(GLDC):c.2334G>A (p.Pro778=) rs191795314 0.00013
NM_000170.3(GLDC):c.1752T>C (p.Pro584=) rs150647379 0.00012
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter) rs191905539 0.00012
NM_000170.3(GLDC):c.635+16A>G rs182471927 0.00012
NM_000170.3(GLDC):c.713+17G>A rs201230226 0.00012
NM_000481.4(AMT):c.961G>A (p.Val321Met) rs149457059 0.00012
NM_000170.3(GLDC):c.1926+6T>C rs200007891 0.00011
NM_000170.3(GLDC):c.2149A>G (p.Ile717Val) rs117460214 0.00011
NM_000170.3(GLDC):c.2518A>G (p.Met840Val) rs781693346 0.00011
NM_000170.3(GLDC):c.255+8C>T rs202086134 0.00011
NM_000170.3(GLDC):c.642C>T (p.Asn214=) rs775546889 0.00011
NM_000481.4(AMT):c.822G>C (p.Gly274=) rs763963724 0.00011
NM_000481.4(AMT):c.952C>T (p.Arg318Trp) rs777583902 0.00011
NM_000170.3(GLDC):c.2203-12C>T rs767258496 0.00010
NM_000170.3(GLDC):c.2212T>A (p.Cys738Ser) rs375850752 0.00010
NM_000170.3(GLDC):c.2230G>A (p.Gly744Arg) rs370061961 0.00010
NM_000481.4(AMT):c.1062C>A (p.Pro354=) rs377227163 0.00010
NM_000481.4(AMT):c.194A>G (p.His65Arg) rs376248724 0.00010
NM_000481.4(AMT):c.701C>T (p.Ser234Leu) rs150998074 0.00010
NM_000170.3(GLDC):c.-168G>A rs891076552 0.00009
NM_000170.3(GLDC):c.2151C>T (p.Ile717=) rs1055782169 0.00009
NM_000170.3(GLDC):c.2175C>T (p.Tyr725=) rs147951756 0.00009
NM_000170.3(GLDC):c.2215C>T (p.Arg739Cys) rs148775220 0.00009
NM_000170.3(GLDC):c.2378A>T (p.Asp793Val) rs150833015 0.00009
NM_000170.3(GLDC):c.2457+17T>A rs371788223 0.00009
NM_000170.3(GLDC):c.2607C>A (p.Pro869=) rs386833565 0.00009
NM_000170.3(GLDC):c.3010C>G (p.Pro1004Ala) rs773642256 0.00009
NM_000170.3(GLDC):c.471-9C>T rs557572975 0.00009
NM_000481.4(AMT):c.463C>T (p.Leu155Phe) rs201233398 0.00009
NM_000481.4(AMT):c.582C>T (p.Gly194=) rs377552553 0.00009
NM_000481.4(AMT):c.589G>C (p.Asp197His) rs200550585 0.00009
NM_032316.3(NICN1):c.*2177G>A rs573551723 0.00009
NM_000170.3(GLDC):c.2053-12T>C rs376968366 0.00008
NM_000170.3(GLDC):c.832G>A (p.Glu278Lys) rs779837711 0.00008
NM_000170.3(GLDC):c.94C>T (p.Pro32Ser) rs1004754180 0.00008
NM_000170.3(GLDC):c.1732A>C (p.Asn578His) rs770315107 0.00007
NM_000170.3(GLDC):c.1850+17T>G rs909283201 0.00007
NM_000170.3(GLDC):c.2446G>A (p.Ala816Thr) rs775834004 0.00007
NM_000170.3(GLDC):c.578A>G (p.Asn193Ser) rs555919940 0.00007
NM_000170.3(GLDC):c.661G>A (p.Val221Ile) rs144043066 0.00007
NM_000481.4(AMT):c.159G>A (p.Ala53=) rs201080782 0.00007
NM_000481.4(AMT):c.713C>T (p.Ala238Val) rs199985521 0.00007
NM_000170.3(GLDC):c.1121G>A (p.Arg374Lys) rs141065026 0.00006
NM_000170.3(GLDC):c.1770A>G (p.Gly590=) rs368034833 0.00006
NM_000170.3(GLDC):c.1824T>C (p.Tyr608=) rs542429544 0.00006
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu) rs201135624 0.00006
NM_000170.3(GLDC):c.2028C>T (p.Ile676=) rs372604935 0.00006
NM_000170.3(GLDC):c.2216G>A (p.Arg739His) rs121964980 0.00006
NM_000170.3(GLDC):c.258C>T (p.Ser86=) rs562000292 0.00006
NM_000170.3(GLDC):c.2601G>A (p.Thr867=) rs371678175 0.00006
NM_000170.3(GLDC):c.2612A>G (p.Lys871Arg) rs766244892 0.00006
NM_000170.3(GLDC):c.2810G>A (p.Arg937His) rs151100082 0.00006
NM_000170.3(GLDC):c.2919C>T (p.Leu973=) rs113736090 0.00006
NM_000170.3(GLDC):c.2920-8C>T rs138786708 0.00006
NM_000170.3(GLDC):c.632A>G (p.Tyr211Cys) rs139931025 0.00006
NM_000170.3(GLDC):c.78G>C (p.Ser26=) rs915226152 0.00006
NM_000170.3(GLDC):c.934A>G (p.Ile312Val) rs1351445046 0.00006
NM_000170.3(GLDC):c.960T>G (p.Phe320Leu) rs771868469 0.00006
NM_000481.4(AMT):c.13G>T (p.Val5Leu) rs764032357 0.00006
NM_000481.4(AMT):c.230C>T (p.Ser77Leu) rs386833680 0.00006
NM_000481.4(AMT):c.401A>G (p.Asn134Ser) rs776832405 0.00006
NM_000481.4(AMT):c.555C>T (p.Pro185=) rs144790394 0.00006
NM_000481.4(AMT):c.91-9C>T rs761235679 0.00006
NM_000170.3(GLDC):c.1067C>G (p.Thr356Ser) rs376612483 0.00005
NM_000170.3(GLDC):c.1143C>A (p.Ile381=) rs755376052 0.00005
NM_000170.3(GLDC):c.1149A>G (p.Thr383=) rs146499591 0.00005
NM_000170.3(GLDC):c.135C>T (p.Ala45=) rs747904179 0.00005
NM_000170.3(GLDC):c.1508A>C (p.Glu503Ala) rs201890453 0.00005
NM_000170.3(GLDC):c.1650C>T (p.His550=) rs566134371 0.00005
NM_000170.3(GLDC):c.1767A>G (p.Gln589=) rs372596473 0.00005
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp) rs141875337 0.00005
NM_000170.3(GLDC):c.1926G>A (p.Thr642=) rs772101467 0.00005
NM_000170.3(GLDC):c.2073C>T (p.Asn691=) rs140352381 0.00005
NM_000170.3(GLDC):c.2181C>T (p.Asp727=) rs192045547 0.00005
NM_000170.3(GLDC):c.2202+20G>A rs770620676 0.00005
NM_000170.3(GLDC):c.250C>T (p.Leu84=) rs746606221 0.00005
NM_000170.3(GLDC):c.2578G>A (p.Gly860Ser) rs753759723 0.00005
NM_000170.3(GLDC):c.2666-8C>A rs771178748 0.00005
NM_000170.3(GLDC):c.270G>C (p.Leu90Phe) rs747736821 0.00005
NM_000170.3(GLDC):c.2839-15G>A rs374118017 0.00005
NM_000170.3(GLDC):c.576C>G (p.Ala192=) rs768514155 0.00005
NM_000170.3(GLDC):c.862-13A>G rs541830167 0.00005
NM_000170.3(GLDC):c.886C>A (p.Leu296Ile) rs200413149 0.00005
NM_000481.4(AMT):c.231G>A (p.Ser77=) rs779002947 0.00005
NM_000481.4(AMT):c.436G>A (p.Ala146Thr) rs570868528 0.00005
NM_000481.4(AMT):c.91-8G>A rs375632843 0.00005
NM_004483.5(GCSH):c.84G>A (p.Pro28=) rs775381594 0.00005
NM_000170.3(GLDC):c.-21C>T rs1057515609 0.00004
NM_000170.3(GLDC):c.1110A>G (p.Gln370=) rs778787964 0.00004
NM_000170.3(GLDC):c.1308T>C (p.Asp436=) rs1314627231 0.00004
NM_000170.3(GLDC):c.1424C>T (p.Thr475Ile) rs750883330 0.00004
NM_000170.3(GLDC):c.1483-15G>C rs371777070 0.00004
NM_000170.3(GLDC):c.150G>A (p.Ser50=) rs768354829 0.00004
NM_000170.3(GLDC):c.1534G>C (p.Val512Leu) rs751521889 0.00004
NM_000170.3(GLDC):c.1580+9G>A rs759094314 0.00004
NM_000170.3(GLDC):c.1626A>G (p.Glu542=) rs779537709 0.00004
NM_000170.3(GLDC):c.1666-6T>C rs766481730 0.00004
NM_000170.3(GLDC):c.1754T>C (p.Leu585Pro) rs767055450 0.00004
NM_000170.3(GLDC):c.2035G>A (p.Val679Ile) rs778376889 0.00004
NM_000170.3(GLDC):c.2202+8C>A rs577906178 0.00004
NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg) rs386833549 0.00004
NM_000170.3(GLDC):c.228A>G (p.Arg76=) rs749103956 0.00004
NM_000170.3(GLDC):c.2304G>A (p.Gly768=) rs533775952 0.00004
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg) rs386833553 0.00004
NM_000170.3(GLDC):c.2362C>G (p.Leu788Val) rs139300551 0.00004
NM_000170.3(GLDC):c.2397C>T (p.Thr799=) rs778396953 0.00004
NM_000170.3(GLDC):c.2406G>A (p.Ala802=) rs368811775 0.00004
NM_000170.3(GLDC):c.2489C>T (p.Thr830Met) rs386833560 0.00004
NM_000170.3(GLDC):c.2545A>G (p.Arg849Gly) rs778000679 0.00004
NM_000170.3(GLDC):c.2565A>C (p.Ala855=) rs966395392 0.00004
NM_000170.3(GLDC):c.2673C>T (p.His891=) rs144939090 0.00004
NM_000170.3(GLDC):c.2832G>A (p.Pro944=) rs764242927 0.00004
NM_000170.3(GLDC):c.2862C>T (p.Cys954=) rs780534916 0.00004
NM_000170.3(GLDC):c.2919+17T>G rs372909849 0.00004
NM_000170.3(GLDC):c.292A>G (p.Asn98Asp) rs750964572 0.00004
NM_000170.3(GLDC):c.310C>A (p.Pro104Thr) rs543718579 0.00004
NM_000170.3(GLDC):c.335-10C>T rs373940475 0.00004
NM_000170.3(GLDC):c.471-20A>G rs750857265 0.00004
NM_000170.3(GLDC):c.489A>G (p.Pro163=) rs770044310 0.00004
NM_000170.3(GLDC):c.699C>T (p.Val233=) rs372130842 0.00004
NM_000170.3(GLDC):c.745C>T (p.Pro249Ser) rs778202301 0.00004
NM_000170.3(GLDC):c.869C>T (p.Ala290Val) rs534936420 0.00004
NM_000481.4(AMT):c.*407T>C rs761498529 0.00004
NM_000481.4(AMT):c.*86G>T rs745685639 0.00004
NM_000481.4(AMT):c.1097C>T (p.Pro366Leu) rs201400089 0.00004
NM_000481.4(AMT):c.148G>C (p.Val50Leu) rs148917929 0.00004
NM_000481.4(AMT):c.195C>T (p.His65=) rs145243292 0.00004
NM_000481.4(AMT):c.203C>T (p.Ser68Leu) rs759015013 0.00004
NM_000481.4(AMT):c.280C>T (p.Arg94Trp) rs1126422 0.00004
NM_000481.4(AMT):c.283G>A (p.Val95Met) rs183396486 0.00004
NM_000481.4(AMT):c.403A>G (p.Thr135Ala) rs768698117 0.00004
NM_000481.4(AMT):c.642C>T (p.Gly214=) rs759245586 0.00004
NM_000481.4(AMT):c.752C>G (p.Pro251Arg) rs770999859 0.00004
NM_000481.4(AMT):c.789C>T (p.Ser263=) rs753177107 0.00004
NM_000481.4(AMT):c.944G>A (p.Arg315Lys) rs376366324 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 0.00004
NM_000481.4(AMT):c.962T>C (p.Val321Ala) rs766509002 0.00004
NM_004483.5(GCSH):c.196A>T (p.Ile66Phe) rs368716465 0.00004
NM_004483.5(GCSH):c.228+8A>C rs375928222 0.00004
NM_004483.5(GCSH):c.425-18G>A rs200332491 0.00004
NM_032316.3(NICN1):c.*2328C>T rs386833677 0.00004
NM_000170.3(GLDC):c.*345G>T rs1383579539 0.00003
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter) rs386833517 0.00003
NM_000170.3(GLDC):c.114C>T (p.Ser38=) rs1315587398 0.00003
NM_000170.3(GLDC):c.1166C>T (p.Ala389Val) rs121964979 0.00003
NM_000170.3(GLDC):c.1383G>A (p.Arg461=) rs376222727 0.00003
NM_000170.3(GLDC):c.13G>C (p.Ala5Pro) rs1358259956 0.00003
NM_000170.3(GLDC):c.1428C>T (p.Val476=) rs781701911 0.00003
NM_000170.3(GLDC):c.1446C>T (p.Asp482=) rs201147701 0.00003
NM_000170.3(GLDC):c.1453T>C (p.Leu485=) rs760562478 0.00003
NM_000170.3(GLDC):c.1483-6C>T rs1442788186 0.00003
NM_000170.3(GLDC):c.1644T>G (p.Leu548=) rs750071045 0.00003
NM_000170.3(GLDC):c.1695G>A (p.Ser565=) rs762780926 0.00003
NM_000170.3(GLDC):c.1751C>T (p.Pro584Leu) rs779138019 0.00003
NM_000170.3(GLDC):c.183C>A (p.Asp61Glu) rs375497905 0.00003
NM_000170.3(GLDC):c.1916G>A (p.Gly639Glu) rs1488935367 0.00003
NM_000170.3(GLDC):c.1925C>T (p.Thr642Met) rs141153261 0.00003
NM_000170.3(GLDC):c.2041C>T (p.Leu681Phe) rs753457618 0.00003
NM_000170.3(GLDC):c.2137G>A (p.Val713Met) rs912659426 0.00003
NM_000170.3(GLDC):c.2229C>T (p.Phe743=) rs144317480 0.00003
NM_000170.3(GLDC):c.227G>C (p.Arg76Thr) rs143358660 0.00003
NM_000170.3(GLDC):c.2305C>A (p.Pro769Thr) rs751114163 0.00003
NM_000170.3(GLDC):c.2316-1G>A rs386833554 0.00003
NM_000170.3(GLDC):c.2369G>A (p.Arg790Gln) rs187209250 0.00003
NM_000170.3(GLDC):c.2387C>T (p.Pro796Leu) rs975247366 0.00003
NM_000170.3(GLDC):c.2416G>A (p.Gly806Ser) rs138797822 0.00003
NM_000170.3(GLDC):c.2569+9C>G rs1410571088 0.00003
NM_000170.3(GLDC):c.261T>C (p.Ile87=) rs776700682 0.00003
NM_000170.3(GLDC):c.262G>A (p.Asp88Asn) rs770826242 0.00003
NM_000170.3(GLDC):c.2665+1G>C rs149070244 0.00003
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly) rs188269735 0.00003
NM_000170.3(GLDC):c.2751C>T (p.Asp917=) rs775143096 0.00003
NM_000170.3(GLDC):c.2926G>A (p.Val976Met) rs150624881 0.00003
NM_000170.3(GLDC):c.606A>C (p.Ala202=) rs779661117 0.00003
NM_000170.3(GLDC):c.726C>A (p.Val242=) rs377750481 0.00003
NM_000170.3(GLDC):c.84G>T (p.Pro28=) rs1259938806 0.00003
NM_000170.3(GLDC):c.870C>T (p.Ala290=) rs143159617 0.00003
NM_000170.3(GLDC):c.873C>T (p.Cys291=) rs893058571 0.00003
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu) rs1207147043 0.00003
NM_000481.4(AMT):c.1082C>T (p.Ala361Val) rs757293245 0.00003
NM_000481.4(AMT):c.1202C>A (p.Thr401Asn) rs752952950 0.00003
NM_000481.4(AMT):c.174A>G (p.Pro58=) rs1356238437 0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_000481.4(AMT):c.472-6T>C rs750153849 0.00003
NM_000481.4(AMT):c.583G>A (p.Val195Met) rs372496075 0.00003
NM_000481.4(AMT):c.705G>A (p.Val235=) rs1324646911 0.00003
NM_000481.4(AMT):c.878-1G>A rs181134220 0.00003
NM_000481.4(AMT):c.887G>A (p.Arg296His) rs386833690 0.00003
NM_000481.4(AMT):c.953G>A (p.Arg318Gln) rs755780814 0.00003
NM_004483.5(GCSH):c.129T>C (p.Thr43=) rs867378019 0.00003
NM_004483.5(GCSH):c.77G>A (p.Cys26Tyr) rs1443267686 0.00003
NM_000170.3(GLDC):c.*546C>T rs768890473 0.00002
NM_000170.3(GLDC):c.1014A>G (p.Glu338=) rs764153656 0.00002
NM_000170.3(GLDC):c.103C>A (p.Arg35=) rs764400486 0.00002
NM_000170.3(GLDC):c.1059-13A>C rs774411764 0.00002
NM_000170.3(GLDC):c.1155+12G>A rs200706904 0.00002
NM_000170.3(GLDC):c.1161C>T (p.Leu387=) rs781613958 0.00002
NM_000170.3(GLDC):c.1242C>T (p.Ala414=) rs761471932 0.00002
NM_000170.3(GLDC):c.1329C>T (p.Gly443=) rs1331638239 0.00002
NM_000170.3(GLDC):c.1342G>C (p.Glu448Gln) rs777365335 0.00002
NM_000170.3(GLDC):c.142G>T (p.Gly48Trp) rs1057515608 0.00002
NM_000170.3(GLDC):c.1430A>G (p.Asn477Ser) rs372136194 0.00002
NM_000170.3(GLDC):c.1433A>C (p.Glu478Ala) rs751588571 0.00002
NM_000170.3(GLDC):c.147C>T (p.Ala49=) rs994081399 0.00002
NM_000170.3(GLDC):c.1501A>G (p.Met501Val) rs748216955 0.00002
NM_000170.3(GLDC):c.1510G>C (p.Glu504Gln) rs1038321056 0.00002
NM_000170.3(GLDC):c.1536G>A (p.Val512=) rs370403481 0.00002
NM_000170.3(GLDC):c.1580+5G>C rs764790596 0.00002
NM_000170.3(GLDC):c.15C>T (p.Ala5=) rs1217742509 0.00002
NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile) rs751822565 0.00002
NM_000170.3(GLDC):c.1662A>C (p.Pro554=) rs547588947 0.00002
NM_000170.3(GLDC):c.1702C>G (p.Leu568Val) rs760181670 0.00002
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg) rs772871471 0.00002
NM_000170.3(GLDC):c.1743C>G (p.Pro581=) rs771788026 0.00002
NM_000170.3(GLDC):c.1750C>T (p.Pro584Ser) rs1001664445 0.00002
NM_000170.3(GLDC):c.1785C>G (p.Phe595Leu) rs201997592 0.00002
NM_000170.3(GLDC):c.1787G>A (p.Arg596Gln) rs573132323 0.00002
NM_000170.3(GLDC):c.1870G>A (p.Ala624Thr) rs143653301 0.00002
NM_000170.3(GLDC):c.1977C>T (p.His659=) rs1402896169 0.00002
NM_000170.3(GLDC):c.2048C>G (p.Ala683Gly) rs1324189699 0.00002
NM_000170.3(GLDC):c.2053-11T>G rs752086205 0.00002
NM_000170.3(GLDC):c.2203-10T>G rs761374321 0.00002
NM_000170.3(GLDC):c.2243C>T (p.Ser748Leu) rs769035358 0.00002
NM_000170.3(GLDC):c.2253T>C (p.Asn751=) rs765624698 0.00002
NM_000170.3(GLDC):c.2289T>C (p.Gly763=) rs749032015 0.00002
NM_000170.3(GLDC):c.243C>G (p.Thr81=) rs1042575278 0.00002
NM_000170.3(GLDC):c.2458-11C>T rs778469197 0.00002
NM_000170.3(GLDC):c.2678C>T (p.Pro893Leu) rs367987650 0.00002
NM_000170.3(GLDC):c.2703G>C (p.Gly901=) rs369767254 0.00002
NM_000170.3(GLDC):c.2809C>T (p.Arg937Cys) rs766928717 0.00002
NM_000170.3(GLDC):c.2818C>T (p.Pro940Ser) rs559923220 0.00002
NM_000170.3(GLDC):c.2839-16C>T rs776393477 0.00002
NM_000170.3(GLDC):c.290C>T (p.Ala97Val) rs917975796 0.00002
NM_000170.3(GLDC):c.2966T>C (p.Ile989Thr) rs149336868 0.00002
NM_000170.3(GLDC):c.299G>A (p.Arg100His) rs1470245998 0.00002
NM_000170.3(GLDC):c.3003C>T (p.Thr1001=) rs975199715 0.00002
NM_000170.3(GLDC):c.3054G>A (p.Ala1018=) rs749409925 0.00002
NM_000170.3(GLDC):c.375C>T (p.Ser125=) rs750281192 0.00002
NM_000170.3(GLDC):c.445C>T (p.Arg149Trp) rs183024300 0.00002
NM_000170.3(GLDC):c.471-10T>A rs369391624 0.00002
NM_000170.3(GLDC):c.549G>A (p.Val183=) rs371771891 0.00002
NM_000170.3(GLDC):c.635+14C>A rs1409018724 0.00002
NM_000170.3(GLDC):c.670C>T (p.Arg224Cys) rs755436133 0.00002
NM_000170.3(GLDC):c.716A>G (p.Tyr239Cys) rs781364515 0.00002
NM_000170.3(GLDC):c.746C>T (p.Pro249Leu) rs754710330 0.00002
NM_000170.3(GLDC):c.755T>C (p.Met252Thr) rs766114667 0.00002
NM_000170.3(GLDC):c.777C>G (p.Val259=) rs141980284 0.00002
NM_000170.3(GLDC):c.807G>A (p.Thr269=) rs374776450 0.00002
NM_000170.3(GLDC):c.829A>T (p.Thr277Ser) rs372595899 0.00002
NM_000170.3(GLDC):c.847G>C (p.Ala283Pro) rs386833589 0.00002
NM_000170.3(GLDC):c.900C>T (p.Cys300=) rs143256976 0.00002
NM_000170.3(GLDC):c.935T>C (p.Ile312Thr) rs761921284 0.00002
NM_000481.4(AMT):c.100C>T (p.Arg34Cys) rs143389339 0.00002
NM_000481.4(AMT):c.1021G>A (p.Gly341Ser) rs769609020 0.00002
NM_000481.4(AMT):c.1141C>T (p.Arg381Trp) rs775324601 0.00002
NM_000481.4(AMT):c.248A>G (p.His83Arg) rs1467607949 0.00002
NM_000481.4(AMT):c.431C>T (p.Ser144Phe) rs147482804 0.00002
NM_000481.4(AMT):c.434A>G (p.Asn145Ser) rs386833682 0.00002
NM_000481.4(AMT):c.43C>T (p.Leu15=) rs775112005 0.00002
NM_000481.4(AMT):c.503G>C (p.Arg168Thr) rs200058579 0.00002
NM_000481.4(AMT):c.522G>T (p.Val174=) rs768025952 0.00002
NM_000481.4(AMT):c.529A>G (p.Asn177Asp) rs771657567 0.00002
NM_000481.4(AMT):c.584T>C (p.Val195Ala) rs752740839 0.00002
NM_000481.4(AMT):c.657C>T (p.Arg219=) rs976237396 0.00002
NM_000481.4(AMT):c.658G>A (p.Val220Met) rs199638653 0.00002
NM_000481.4(AMT):c.78T>C (p.Leu26=) rs764624214 0.00002
NM_000481.4(AMT):c.794G>A (p.Arg265His) rs757918826 0.00002
NM_004483.5(GCSH):c.226C>T (p.Gln76Ter) rs769222264 0.00002
NM_004483.5(GCSH):c.505A>C (p.Lys169Gln) rs1189328619 0.00002
NM_004483.5(GCSH):c.514G>A (p.Glu172Lys) rs760566469 0.00002
NM_004483.5(GCSH):c.73C>T (p.Pro25Ser) rs533447730 0.00002
NM_032316.3(NICN1):c.*2157G>A rs1244431682 0.00002
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg) rs1406713104 0.00001
NM_000170.3(GLDC):c.*496T>G rs999698910 0.00001
NM_000170.3(GLDC):c.*5C>G rs764814250 0.00001
NM_000170.3(GLDC):c.1010G>A (p.Arg337Gln) rs138129131 0.00001
NM_000170.3(GLDC):c.1032G>C (p.Met344Ile) rs752892944 0.00001
NM_000170.3(GLDC):c.1033C>A (p.Pro345Thr) rs373263202 0.00001
NM_000170.3(GLDC):c.1035T>G (p.Pro345=) rs759830992 0.00001
NM_000170.3(GLDC):c.1050G>A (p.Gly350=) rs771910050 0.00001
NM_000170.3(GLDC):c.1058+7G>A rs1291062152 0.00001
NM_000170.3(GLDC):c.1058+8G>A rs1230501747 0.00001
NM_000170.3(GLDC):c.1078G>C (p.Val360Leu) rs373482451 0.00001
NM_000170.3(GLDC):c.1080G>T (p.Val360=) rs745502236 0.00001
NM_000170.3(GLDC):c.1114A>G (p.Ile372Val) rs755156031 0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp) rs150171524 0.00001
NM_000170.3(GLDC):c.1145G>A (p.Cys382Tyr) rs759133707 0.00001
NM_000170.3(GLDC):c.1156-10T>C rs748599108 0.00001
NM_000170.3(GLDC):c.11G>A (p.Cys4Tyr) rs1267461962 0.00001
NM_000170.3(GLDC):c.1210C>T (p.Leu404=) rs781450542 0.00001
NM_000170.3(GLDC):c.1215G>A (p.Glu405=) rs771135075 0.00001
NM_000170.3(GLDC):c.1261+16G>A rs760139834 0.00001
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter) rs386833521 0.00001
NM_000170.3(GLDC):c.128del (p.Asp43fs) rs1251443902 0.00001
NM_000170.3(GLDC):c.1317G>T (p.Lys439Asn) rs151163582 0.00001
NM_000170.3(GLDC):c.1328G>A (p.Gly443Asp) rs769583276 0.00001
NM_000170.3(GLDC):c.1332C>T (p.Cys444=) rs781050148 0.00001
NM_000170.3(GLDC):c.1333T>C (p.Ser445Pro) rs756770984 0.00001
NM_000170.3(GLDC):c.1359C>T (p.Ala453=) rs766839627 0.00001
NM_000170.3(GLDC):c.1366C>T (p.Arg456Trp) rs773119895 0.00001
NM_000170.3(GLDC):c.1367G>A (p.Arg456Gln) rs767652664 0.00001
NM_000170.3(GLDC):c.1381C>T (p.Arg461Trp) rs761957837 0.00001
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln) rs386833524 0.00001
NM_000170.3(GLDC):c.1398C>T (p.Gly466=) rs746977015 0.00001
NM_000170.3(GLDC):c.1401+1G>A rs1211616091 0.00001
NM_000170.3(GLDC):c.1401A>G (p.Thr467=) rs1818402760 0.00001
NM_000170.3(GLDC):c.1402-10G>A rs199516238 0.00001
NM_000170.3(GLDC):c.1402-14T>G rs376719104 0.00001
NM_000170.3(GLDC):c.1441C>G (p.Leu481Val) rs764170083 0.00001
NM_000170.3(GLDC):c.1443G>C (p.Leu481=) rs1334045011 0.00001
NM_000170.3(GLDC):c.1447G>A (p.Asp483Asn) rs753029511 0.00001
NM_000170.3(GLDC):c.1452G>A (p.Leu484=) rs766071661 0.00001
NM_000170.3(GLDC):c.1482+13A>G rs374894047 0.00001
NM_000170.3(GLDC):c.1485A>G (p.Glu495=) rs747500252 0.00001
NM_000170.3(GLDC):c.149C>T (p.Ser50Leu) rs778725420 0.00001
NM_000170.3(GLDC):c.1517G>C (p.Arg506Thr) rs754119942 0.00001
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala) rs557412758 0.00001
NM_000170.3(GLDC):c.1546A>G (p.Thr516Ala) rs1007990230 0.00001
NM_000170.3(GLDC):c.1560C>G (p.Leu520=) rs748612685 0.00001
NM_000170.3(GLDC):c.1567C>G (p.Gln523Glu) rs199711131 0.00001
NM_000170.3(GLDC):c.156C>T (p.Leu52=) rs779860452 0.00001
NM_000170.3(GLDC):c.1570G>C (p.Val524Leu) rs751362463 0.00001
NM_000170.3(GLDC):c.1572G>A (p.Val524=) rs373679781 0.00001
NM_000170.3(GLDC):c.1580+4T>G rs752642527 0.00001
NM_000170.3(GLDC):c.1581-11T>G rs764656980 0.00001
NM_000170.3(GLDC):c.1606C>T (p.Arg536Trp) rs1286882965 0.00001
NM_000170.3(GLDC):c.1607G>A (p.Arg536Gln) rs747853668 0.00001
NM_000170.3(GLDC):c.163C>G (p.Arg55Gly) rs755680488 0.00001
NM_000170.3(GLDC):c.1640C>G (p.Ser547Cys) rs1320151906 0.00001
NM_000170.3(GLDC):c.1659T>G (p.Ile553Met) rs763489615 0.00001
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg) rs765384489 0.00001
NM_000170.3(GLDC):c.1665+7A>T rs759573888 0.00001
NM_000170.3(GLDC):c.1666-20T>C rs912148549 0.00001
NM_000170.3(GLDC):c.1666-4A>T rs909685694 0.00001
NM_000170.3(GLDC):c.1666-7C>T rs1298989281 0.00001
NM_000170.3(GLDC):c.1679T>C (p.Met560Thr) rs1366947118 0.00001
NM_000170.3(GLDC):c.1684C>T (p.Leu562=) rs773483552 0.00001
NM_000170.3(GLDC):c.1689C>T (p.Asn563=) rs546431385 0.00001
NM_000170.3(GLDC):c.1708-10T>C rs1818291131 0.00001
NM_000170.3(GLDC):c.1723G>T (p.Glu575Ter) rs1554646529 0.00001
NM_000170.3(GLDC):c.1734C>T (p.Asn578=) rs1034614089 0.00001
NM_000170.3(GLDC):c.1737C>T (p.Ile579=) rs746477003 0.00001
NM_000170.3(GLDC):c.1759C>G (p.Gln587Glu) rs1296797567 0.00001
NM_000170.3(GLDC):c.1762G>C (p.Ala588Pro) rs780654157 0.00001
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter) rs386833531 0.00001
NM_000170.3(GLDC):c.1817C>T (p.Thr606Ile) rs772777667 0.00001
NM_000170.3(GLDC):c.1828C>T (p.Gln610Ter) rs1251538998 0.00001
NM_000170.3(GLDC):c.1830G>A (p.Gln610=) rs765268971 0.00001
NM_000170.3(GLDC):c.1850+7G>A rs1334727362 0.00001
NM_000170.3(GLDC):c.1851C>T (p.Ser617=) rs777724341 0.00001
NM_000170.3(GLDC):c.1852G>A (p.Gly618Arg) rs758575745 0.00001
NM_000170.3(GLDC):c.1871C>T (p.Ala624Val) rs779980470 0.00001
NM_000170.3(GLDC):c.1878G>A (p.Leu626=) rs1360717642 0.00001
NM_000170.3(GLDC):c.1887C>G (p.Ile629Met) rs1400097268 0.00001
NM_000170.3(GLDC):c.1888C>T (p.Arg630Ter) rs751025203 0.00001
NM_000170.3(GLDC):c.1917G>A (p.Gly639=) rs776998782 0.00001
NM_000170.3(GLDC):c.1926+7A>T rs1381047073 0.00001
NM_000170.3(GLDC):c.1941G>A (p.Pro647=) rs1232468588 0.00001
NM_000170.3(GLDC):c.1953T>C (p.His651=) rs777613879 0.00001
NM_000170.3(GLDC):c.1956G>C (p.Gly652=) rs1221597797 0.00001
NM_000170.3(GLDC):c.2013T>A (p.Asp671Glu) rs762425284 0.00001
NM_000170.3(GLDC):c.2019T>C (p.Tyr673=) rs774506115 0.00001
NM_000170.3(GLDC):c.2022G>C (p.Gly674=) rs768923849 0.00001
NM_000170.3(GLDC):c.2039A>G (p.His680Arg) rs754531832 0.00001
NM_000170.3(GLDC):c.2052+1G>C rs765906340 0.00001
NM_000170.3(GLDC):c.2052+7G>C rs755812288 0.00001
NM_000170.3(GLDC):c.2053G>T (p.Val685Leu) rs367988640 0.00001
NM_000170.3(GLDC):c.205G>A (p.Gly69Ser) rs955023601 0.00001
NM_000170.3(GLDC):c.2070G>A (p.Glu690=) rs1817629842 0.00001
NM_000170.3(GLDC):c.2106C>T (p.Thr702=) rs751926697 0.00001
NM_000170.3(GLDC):c.2114T>A (p.Val705Glu) rs753301368 0.00001
NM_000170.3(GLDC):c.2115G>A (p.Val705=) rs765205689 0.00001
NM_000170.3(GLDC):c.2139G>A (p.Val713=) rs763944767 0.00001
NM_000170.3(GLDC):c.2145C>T (p.Asp715=) rs769158507 0.00001
NM_000170.3(GLDC):c.2166A>G (p.Gly722=) rs1323178815 0.00001
NM_000170.3(GLDC):c.2186del (p.Ala729fs) rs386833543 0.00001
NM_000170.3(GLDC):c.2192T>C (p.Met731Thr) rs763854673 0.00001
NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys) rs386833544 0.00001
NM_000170.3(GLDC):c.2198C>A (p.Ala733Asp) rs1817625926 0.00001
NM_000170.3(GLDC):c.2202+6A>G rs368418946 0.00001
NM_000170.3(GLDC):c.2202+9T>G rs765177412 0.00001
NM_000170.3(GLDC):c.2262G>A (p.Lys754=) rs954961288 0.00001
NM_000170.3(GLDC):c.2271C>T (p.Cys757=) rs770961258 0.00001
NM_000170.3(GLDC):c.2280C>T (p.His760=) rs777816136 0.00001
NM_000170.3(GLDC):c.230A>G (p.Glu77Gly) rs569728662 0.00001
NM_000170.3(GLDC):c.2315+1G>T rs1252460597 0.00001
NM_000170.3(GLDC):c.2315+7T>C rs747009828 0.00001
NM_000170.3(GLDC):c.2315+8C>T rs773354023 0.00001
NM_000170.3(GLDC):c.2316-10A>C rs1046747265 0.00001
NM_000170.3(GLDC):c.2316-17A>G rs1263329857 0.00001
NM_000170.3(GLDC):c.2317A>T (p.Lys773Ter) rs373618804 0.00001
NM_000170.3(GLDC):c.2324A>G (p.His775Arg) rs386833555 0.00001
NM_000170.3(GLDC):c.2332C>G (p.Pro778Ala) rs1476838990 0.00001
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp) rs386833556 0.00001
NM_000170.3(GLDC):c.2405C>T (p.Ala802Val) rs121964977 0.00001
NM_000170.3(GLDC):c.2412A>G (p.Pro804=) rs1008088665 0.00001
NM_000170.3(GLDC):c.2437A>G (p.Ile813Val) rs751624844 0.00001
NM_000170.3(GLDC):c.2441C>T (p.Ser814Phe) rs763075374 0.00001
NM_000170.3(GLDC):c.2457+10G>A rs771927272 0.00001
NM_000170.3(GLDC):c.2469C>G (p.Gly823=) rs1216155531 0.00001
NM_000170.3(GLDC):c.2472G>A (p.Lys824=) rs1286626531 0.00001
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val) rs1275684568 0.00001
NM_000170.3(GLDC):c.2499G>A (p.Ala833=) rs767267571 0.00001
NM_000170.3(GLDC):c.2523C>T (p.Ala841=) rs762805307 0.00001
NM_000170.3(GLDC):c.255+5G>T rs372569318 0.00001
NM_000170.3(GLDC):c.256-15G>A rs189719025 0.00001
NM_000170.3(GLDC):c.2570G>A (p.Gly857Asp) rs1455180063 0.00001
NM_000170.3(GLDC):c.2600C>T (p.Thr867Met) rs749852046 0.00001
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530 0.00001
NM_000170.3(GLDC):c.2666-4G>C rs1007363577 0.00001
NM_000170.3(GLDC):c.2670T>C (p.Phe890=) rs760961076 0.00001
NM_000170.3(GLDC):c.2684T>C (p.Met895Thr) rs769606225 0.00001
NM_000170.3(GLDC):c.268T>C (p.Leu90=) rs771631849 0.00001
NM_000170.3(GLDC):c.2697G>A (p.Val899=) rs780535258 0.00001
NM_000170.3(GLDC):c.2706C>T (p.Thr902=) rs752943013 0.00001
NM_000170.3(GLDC):c.2718G>A (p.Glu906=) rs1463086398 0.00001
NM_000170.3(GLDC):c.273C>T (p.Ile91=) rs1335911770 0.00001
NM_000170.3(GLDC):c.2742A>T (p.Ala914=) rs374022098 0.00001
NM_000170.3(GLDC):c.2749G>C (p.Asp917His) rs370297328 0.00001
NM_000170.3(GLDC):c.2793T>A (p.Ala931=) rs367759326 0.00001
NM_000170.3(GLDC):c.2814C>T (p.Ile938=) rs750518195 0.00001
NM_000170.3(GLDC):c.2820C>T (p.Pro940=) rs1355492624 0.00001
NM_000170.3(GLDC):c.282G>A (p.Thr94=) rs769003941 0.00001
NM_000170.3(GLDC):c.2831C>T (p.Pro944Leu) rs374969047 0.00001
NM_000170.3(GLDC):c.2839-7G>A rs771936299 0.00001
NM_000170.3(GLDC):c.2869T>C (p.Ser957Pro) rs386833571 0.00001
NM_000170.3(GLDC):c.2879G>A (p.Trp960Ter) rs1410625190 0.00001
NM_000170.3(GLDC):c.2885G>A (p.Arg962Gln) rs1452327155 0.00001
NM_000170.3(GLDC):c.2891dup (p.Tyr964Ter) rs386833572 0.00001
NM_000170.3(GLDC):c.2903T>C (p.Val968Ala) rs554230348 0.00001
NM_000170.3(GLDC):c.2919+1G>A rs386833575 0.00001
NM_000170.3(GLDC):c.2925C>T (p.Phe975=) rs1052505781 0.00001
NM_000170.3(GLDC):c.2936A>C (p.Glu979Ala) rs550514750 0.00001
NM_000170.3(GLDC):c.2938A>G (p.Asn980Asp) rs772574530 0.00001
NM_000170.3(GLDC):c.2962C>G (p.Arg988Gly) rs1288008254 0.00001
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln) rs749512886 0.00001
NM_000170.3(GLDC):c.2994G>C (p.Leu998=) rs759229432 0.00001
NM_000170.3(GLDC):c.3002C>A (p.Thr1001Asn) rs555776146 0.00001
NM_000170.3(GLDC):c.3048G>C (p.Lys1016Asn) rs1034808665 0.00001
NM_000170.3(GLDC):c.31C>A (p.Arg11Ser) rs1359478814 0.00001
NM_000170.3(GLDC):c.327C>T (p.Asp109=) rs1181706015 0.00001
NM_000170.3(GLDC):c.328C>T (p.Pro110Ser) rs866641732 0.00001
NM_000170.3(GLDC):c.346A>G (p.Ile116Val) rs1010145706 0.00001
NM_000170.3(GLDC):c.352G>A (p.Ala118Thr) rs1333702002 0.00001
NM_000170.3(GLDC):c.357T>C (p.Thr119=) rs777954190 0.00001
NM_000170.3(GLDC):c.372A>T (p.Ser124=) rs1162730454 0.00001
NM_000170.3(GLDC):c.374G>A (p.Ser125Asn) rs1311286011 0.00001
NM_000170.3(GLDC):c.38G>A (p.Gly13Asp) rs1819728208 0.00001
NM_000170.3(GLDC):c.395C>T (p.Ser132Leu) rs386833576 0.00001
NM_000170.3(GLDC):c.396G>A (p.Ser132=) rs542613459 0.00001
NM_000170.3(GLDC):c.398A>G (p.Tyr133Cys) rs751373832 0.00001
NM_000170.3(GLDC):c.437C>T (p.Thr146Met) rs376578742 0.00001
NM_000170.3(GLDC):c.439_441dup (p.Ile147dup) rs1157234920 0.00001
NM_000170.3(GLDC):c.446G>A (p.Arg149Gln) rs538431715 0.00001
NM_000170.3(GLDC):c.470+8A>G rs1428962515 0.00001
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro) rs1356375715 0.00001
NM_000170.3(GLDC):c.519G>A (p.Leu173=) rs1384226436 0.00001
NM_000170.3(GLDC):c.51G>T (p.Gly17=) rs947785805 0.00001
NM_000170.3(GLDC):c.528A>C (p.Leu176Phe) rs757566503 0.00001
NM_000170.3(GLDC):c.538C>T (p.Gln180Ter) rs762989914 0.00001
NM_000170.3(GLDC):c.544A>G (p.Met182Val) rs541691467 0.00001
NM_000170.3(GLDC):c.588G>A (p.Leu196=) rs1324658907 0.00001
NM_000170.3(GLDC):c.589C>G (p.Leu197Val) rs1461615694 0.00001
NM_000170.3(GLDC):c.60C>T (p.Arg20=) rs1162699082 0.00001
NM_000170.3(GLDC):c.635+18G>C rs199569891 0.00001
NM_000170.3(GLDC):c.635+8G>C rs760774268 0.00001
NM_000170.3(GLDC):c.637C>A (p.His213Asn) rs1210682949 0.00001
NM_000170.3(GLDC):c.63C>A (p.Arg21=) rs372141443 0.00001
NM_000170.3(GLDC):c.646A>G (p.Arg216Gly) rs140411475 0.00001
NM_000170.3(GLDC):c.662T>C (p.Val221Ala) rs1313892401 0.00001
NM_000170.3(GLDC):c.668C>G (p.Pro223Arg) rs201049516 0.00001
NM_000170.3(GLDC):c.669C>T (p.Pro223=) rs748556946 0.00001
NM_000170.3(GLDC):c.67G>A (p.Ala23Thr) rs978322077 0.00001
NM_000170.3(GLDC):c.687A>G (p.Thr229=) rs772572634 0.00001
NM_000170.3(GLDC):c.701A>G (p.Gln234Arg) rs776639131 0.00001
NM_000170.3(GLDC):c.713+16C>T rs749690567 0.00001
NM_000170.3(GLDC):c.714-13T>G rs1453203047 0.00001
NM_000170.3(GLDC):c.714-2A>G rs1170385434 0.00001
NM_000170.3(GLDC):c.729C>T (p.Leu243=) rs1372919732 0.00001
NM_000170.3(GLDC):c.787T>C (p.Leu263=) rs1322312349 0.00001
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala) rs1554648117 0.00001
NM_000170.3(GLDC):c.800C>T (p.Pro267Leu) rs138484426 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000170.3(GLDC):c.816G>A (p.Lys272=) rs771125415 0.00001
NM_000170.3(GLDC):c.831G>A (p.Thr277=) rs369824891 0.00001
NM_000170.3(GLDC):c.837C>G (p.Leu279=) rs755904706 0.00001
NM_000170.3(GLDC):c.838G>A (p.Val280Met) rs1258949524 0.00001
NM_000170.3(GLDC):c.861+10C>T rs565335444 0.00001
NM_000170.3(GLDC):c.861+20G>A rs762609731 0.00001
NM_000170.3(GLDC):c.862-14C>T rs1202842146 0.00001
NM_000170.3(GLDC):c.862-16C>G rs780268150 0.00001
NM_000170.3(GLDC):c.862-4C>A rs768905756 0.00001
NM_000170.3(GLDC):c.862-8C>T rs1275195194 0.00001
NM_000170.3(GLDC):c.868G>A (p.Ala290Thr) rs1436719669 0.00001
NM_000170.3(GLDC):c.907A>T (p.Arg303Trp) rs753551054 0.00001
NM_000170.3(GLDC):c.915T>C (p.Pro305=) rs1478814212 0.00001
NM_000170.3(GLDC):c.940C>T (p.Leu314=) rs1350558805 0.00001
NM_000170.3(GLDC):c.943G>A (p.Gly315Ser) rs1292183482 0.00001
NM_000170.3(GLDC):c.959T>G (p.Phe320Cys) rs773173613 0.00001
NM_000170.3(GLDC):c.969A>G (p.Pro323=) rs748143417 0.00001
NM_000170.3(GLDC):c.96G>T (p.Pro32=) rs1430526811 0.00001
NM_000170.3(GLDC):c.972G>A (p.Leu324=) rs754536865 0.00001
NM_000170.3(GLDC):c.990T>C (p.His330=) rs1329493716 0.00001
NM_000481.4(AMT):c.*616C>T rs1477520548 0.00001
NM_000481.4(AMT):c.1029G>A (p.Lys343=) rs1553638253 0.00001
NM_000481.4(AMT):c.1034-14T>C rs772896226 0.00001
NM_000481.4(AMT):c.1038T>C (p.Thr346=) rs532787574 0.00001
NM_000481.4(AMT):c.1083G>A (p.Ala361=) rs753899057 0.00001
NM_000481.4(AMT):c.1092T>C (p.Tyr364=) rs764246902 0.00001
NM_000481.4(AMT):c.1095G>A (p.Val365=) rs1367905315 0.00001
NM_000481.4(AMT):c.1101C>T (p.Cys367=) rs753150990 0.00001
NM_000481.4(AMT):c.110C>T (p.Pro37Leu) rs202225151 0.00001
NM_000481.4(AMT):c.111G>A (p.Pro37=) rs754165977 0.00001
NM_000481.4(AMT):c.1140G>C (p.Val380=) rs746645414 0.00001
NM_000481.4(AMT):c.1157T>C (p.Met386Thr) rs757170367 0.00001
NM_000481.4(AMT):c.123C>T (p.Phe41=) rs774066970 0.00001
NM_000481.4(AMT):c.126C>T (p.His42=) rs761195733 0.00001
NM_000481.4(AMT):c.135C>T (p.His45=) rs773881893 0.00001
NM_000481.4(AMT):c.139G>A (p.Gly47Arg) rs121964982 0.00001
NM_000481.4(AMT):c.141G>A (p.Gly47=) rs1286962248 0.00001
NM_000481.4(AMT):c.153G>A (p.Ala51=) rs768510463 0.00001
NM_000481.4(AMT):c.158C>T (p.Ala53Val) rs746916262 0.00001
NM_000481.4(AMT):c.170T>C (p.Leu57Pro) rs1439129399 0.00001
NM_000481.4(AMT):c.173C>T (p.Pro58Leu) rs1008341193 0.00001
NM_000481.4(AMT):c.183C>T (p.Tyr61=) rs2049116527 0.00001
NM_000481.4(AMT):c.198T>C (p.Thr66=) rs151231828 0.00001
NM_000481.4(AMT):c.204G>A (p.Ser68=) rs544165488 0.00001
NM_000481.4(AMT):c.212A>C (p.His71Pro) rs1053797603 0.00001
NM_000481.4(AMT):c.218G>A (p.Arg73His) rs928833763 0.00001
NM_000481.4(AMT):c.22G>A (p.Val8Met) rs759853191 0.00001
NM_000481.4(AMT):c.298A>G (p.Ser100Gly) rs994868932 0.00001
NM_000481.4(AMT):c.29G>A (p.Arg10His) rs150649086 0.00001
NM_000481.4(AMT):c.317T>C (p.Ile106Thr) rs1249645541 0.00001
NM_000481.4(AMT):c.339+1G>A rs1575308129 0.00001
NM_000481.4(AMT):c.340-19C>T rs529076810 0.00001
NM_000481.4(AMT):c.350C>T (p.Ser117Leu) rs769468125 0.00001
NM_000481.4(AMT):c.399C>T (p.Thr133=) rs1638775910 0.00001
NM_000481.4(AMT):c.425T>G (p.Val142Gly) rs753217454 0.00001
NM_000481.4(AMT):c.435C>T (p.Asn145=) rs1318110345 0.00001
NM_000481.4(AMT):c.441C>G (p.Gly147=) rs2049076356 0.00001
NM_000481.4(AMT):c.443G>T (p.Cys148Phe) rs140697432 0.00001
NM_000481.4(AMT):c.459G>A (p.Leu153=) rs1054393564 0.00001
NM_000481.4(AMT):c.462C>T (p.Ala154=) rs1192215555 0.00001
NM_000481.4(AMT):c.46C>T (p.Gln16Ter) rs2049124862 0.00001
NM_000481.4(AMT):c.471+7C>G rs776638071 0.00001
NM_000481.4(AMT):c.471+7C>T rs776638071 0.00001
NM_000481.4(AMT):c.471+9C>T rs760770619 0.00001
NM_000481.4(AMT):c.476A>G (p.Lys159Arg) rs1553638556 0.00001
NM_000481.4(AMT):c.496C>T (p.Gln166Ter) rs558998633 0.00001
NM_000481.4(AMT):c.516G>A (p.Leu172=) rs1281064499 0.00001
NM_000481.4(AMT):c.519G>A (p.Glu173=) rs376777888 0.00001
NM_000481.4(AMT):c.52T>C (p.Phe18Leu) rs778523705 0.00001
NM_000481.4(AMT):c.546G>A (p.Leu182=) rs1231853585 0.00001
NM_000481.4(AMT):c.54C>T (p.Phe18=) rs914716059 0.00001
NM_000481.4(AMT):c.551-20C>T rs770272854 0.00001
NM_000481.4(AMT):c.551-8G>C rs1198266542 0.00001
NM_000481.4(AMT):c.566A>C (p.Gln189Pro) rs1371408104 0.00001
NM_000481.4(AMT):c.576G>A (p.Gln192=) rs1318971313 0.00001
NM_000481.4(AMT):c.579C>T (p.Ala193=) rs749313171 0.00001
NM_000481.4(AMT):c.59C>T (p.Pro20Leu) rs749087037 0.00001
NM_000481.4(AMT):c.60G>A (p.Pro20=) rs374750709 0.00001
NM_000481.4(AMT):c.613A>G (p.Met205Val) rs766904475 0.00001
NM_000481.4(AMT):c.618C>T (p.Thr206=) rs1361089893 0.00001
NM_000481.4(AMT):c.638T>G (p.Phe213Cys) rs963795935 0.00001
NM_000481.4(AMT):c.656G>A (p.Arg219His) rs202043041 0.00001
NM_000481.4(AMT):c.664C>T (p.Arg222Cys) rs781466698 0.00001
NM_000481.4(AMT):c.665G>A (p.Arg222His) rs562695274 0.00001
NM_000481.4(AMT):c.684G>A (p.Glu228=) rs2049057695 0.00001
NM_000481.4(AMT):c.696+10G>T rs750787542 0.00001
NM_000481.4(AMT):c.697-11G>A rs751099729 0.00001
NM_000481.4(AMT):c.697-35G>C rs746080712 0.00001
NM_000481.4(AMT):c.702G>A (p.Ser234=) rs761701860 0.00001
NM_000481.4(AMT):c.750C>T (p.Asn250=) rs141324034 0.00001
NM_000481.4(AMT):c.793C>T (p.Arg265Cys) rs779483959 0.00001
NM_000481.4(AMT):c.798G>A (p.Leu266=) rs749832818 0.00001
NM_000481.4(AMT):c.807C>A (p.Gly269=) rs200176736 0.00001
NM_000481.4(AMT):c.826G>C (p.Asp276His) rs121964984 0.00001
NM_000481.4(AMT):c.830T>C (p.Ile277Thr) rs1052014497 0.00001
NM_000481.4(AMT):c.847C>T (p.Pro283Ser) rs771214835 0.00001
NM_000481.4(AMT):c.84C>T (p.Cys28=) rs763223038 0.00001
NM_000481.4(AMT):c.852G>A (p.Val284=) rs749481166 0.00001
NM_000481.4(AMT):c.877+10G>A rs1292050339 0.00001
NM_000481.4(AMT):c.878-16_878-15del rs759562642 0.00001
NM_000481.4(AMT):c.878-5T>G rs945551152 0.00001
NM_000481.4(AMT):c.879G>C (p.Gly293=) rs972670254 0.00001
NM_000481.4(AMT):c.883C>T (p.Arg295Cys) rs891522376 0.00001
NM_000481.4(AMT):c.889C>T (p.Arg297Ter) rs766422988 0.00001
NM_000481.4(AMT):c.890G>A (p.Arg297Gln) rs770048404 0.00001
NM_000481.4(AMT):c.891A>G (p.Arg297=) rs763216113 0.00001
NM_000481.4(AMT):c.897T>C (p.Ala299=) rs371771461 0.00001
NM_000481.4(AMT):c.939G>A (p.Lys313=) rs1382062787 0.00001
NM_000481.4(AMT):c.958C>T (p.Arg320Cys) rs866625610 0.00001
NM_000481.4(AMT):c.972G>A (p.Met324Ile) rs773215128 0.00001
NM_000481.4(AMT):c.982G>A (p.Ala328Thr) rs765464808 0.00001
NM_000481.4(AMT):c.996dup (p.His333fs) rs2049025668 0.00001
NM_004483.5(GCSH):c.102G>A (p.Gly34=) rs941391744 0.00001
NM_004483.5(GCSH):c.115C>T (p.Arg39Cys) rs1245942364 0.00001
NM_004483.5(GCSH):c.133C>G (p.Pro45Ala) rs1972502072 0.00001
NM_004483.5(GCSH):c.153T>C (p.Arg51=) rs142243166 0.00001
NM_004483.5(GCSH):c.19C>T (p.Arg7Trp) rs976425490 0.00001
NM_004483.5(GCSH):c.1A>G (p.Met1Val) rs886039730 0.00001
NM_004483.5(GCSH):c.231A>C (p.Glu77Asp) rs1236344907 0.00001
NM_004483.5(GCSH):c.329G>A (p.Ser110Asn) rs779721507 0.00001
NM_004483.5(GCSH):c.364G>A (p.Glu122Lys) rs753037667 0.00001
NM_004483.5(GCSH):c.400G>A (p.Val134Ile) rs766903708 0.00001
NM_004483.5(GCSH):c.413G>A (p.Cys138Tyr) rs540817676 0.00001
NM_004483.5(GCSH):c.425-8G>C rs770923322 0.00001
NM_004483.5(GCSH):c.44C>T (p.Thr15Ile) rs1339562877 0.00001
NM_004483.5(GCSH):c.49C>T (p.Arg17Cys) rs967101315 0.00001
NM_004483.5(GCSH):c.512T>C (p.Ile171Thr) rs770835365 0.00001
NM_004483.5(GCSH):c.75C>T (p.Pro25=) rs958918692 0.00001
NM_032316.3(NICN1):c.*2317A>G rs1553638927 0.00001
NM_032316.3(NICN1):c.*2325C>T rs753743263 0.00001
GCSH, COMPLEX REARRANGEMENT
NC_000003.11:g.(?_49394821)_(49459947_?)dup
NC_000003.11:g.(?_49454201)_(49457785_?)del
NC_000003.11:g.(?_49456384)_(49459947_?)dup
NC_000003.12:g.(?_49419700)_(49419798_?)dup
NC_000003.12:g.(?_49421482)_(49424348_?)del
NC_000009.11:g.(6620320_6644613)_(6645693_?)del
NC_000009.11:g.(?_6533007)_(6558694_?)del
NC_000009.11:g.(?_6533007)_(6565439_?)del
NC_000009.11:g.(?_6533007)_(6645509_?)del
NC_000009.11:g.(?_6533017)_(6540166_?)dup
NC_000009.11:g.(?_6533017)_(6595139_?)del
NC_000009.11:g.(?_6533017)_(6620339_?)del
NC_000009.11:g.(?_6533017)_(6645499_?)del
NC_000009.11:g.(?_6533017)_(6645499_?)dup
NC_000009.11:g.(?_6534707)_(6538467_?)del
NC_000009.11:g.(?_6540041)_(6620329_?)del
NC_000009.11:g.(?_6549859)_(6553343_?)del
NC_000009.11:g.(?_6550783)_(6554801_?)del
NC_000009.11:g.(?_6550783)_(6645499_?)del
NC_000009.11:g.(?_6550783)_(6645499_?)dup
NC_000009.11:g.(?_6550783)_(6645519_?)del
NC_000009.11:g.(?_6550793)_(6550924_?)dup
NC_000009.11:g.(?_6550793)_(6558694_?)dup
NC_000009.11:g.(?_6550793)_(6620329_?)del
NC_000009.11:g.(?_6554649)_(6554801_?)del
NC_000009.11:g.(?_6554649)_(6645499_?)dup
NC_000009.11:g.(?_6558564)_(6559850_?)del
NC_000009.11:g.(?_6565334)_(6565449_?)dup
NC_000009.11:g.(?_6587121)_(6595139_?)del
NC_000009.11:g.(?_6587121)_(6645499_?)dup
NC_000009.11:g.(?_6587121)_(6645519_?)dup
NC_000009.11:g.(?_6587131)_(6589302_?)del
NC_000009.11:g.(?_6587131)_(6595129_?)del
NC_000009.11:g.(?_6587131)_(6595129_?)dup
NC_000009.11:g.(?_6587131)_(6602215_?)del
NC_000009.11:g.(?_6587131)_(6610366_?)del
NC_000009.11:g.(?_6587131)_(6620329_?)del
NC_000009.11:g.(?_6587131)_(6645509_?)del
NC_000009.11:g.(?_6587181)_(6602209_?)del
NC_000009.11:g.(?_6592123)_(6645499_?)del
NC_000009.11:g.(?_6602018)_(6606679_?)del
NC_000009.11:g.(?_6602018)_(6610366_?)del
NC_000009.11:g.(?_6602089)_(6604804_?)del
NC_000009.11:g.(?_6602089)_(6605298_?)del
NC_000009.11:g.(?_6602089)_(6620339_?)del
NC_000009.11:g.(?_6602089)_(6645499_?)del
NC_000009.11:g.(?_6604568)_(6645499_?)dup
NC_000009.11:g.(?_6604578)_(6606679_?)del
NC_000009.11:g.(?_6604578)_(6645509_?)del
NC_000009.11:g.(?_6606582)_(6610366_?)del
NC_000009.11:g.(?_6610182)_(6610366_?)del
NC_000009.11:g.(?_6610182)_(6620329_?)del
NC_000009.11:g.(?_6610182)_(6645509_?)del
NC_000009.11:g.(?_6620164)_(6645499_?)dup
NC_000009.11:g.(?_6620164)_(6645519_?)dup
NC_000009.11:g.(?_6620174)_(6620329_?)dup
NC_000009.11:g.(?_6620184)_(6645307_?)del
NC_000009.11:g.(?_6620184)_(6720997_?)dup
NC_000009.11:g.(?_6644594)_(6645499_?)del
NC_000009.11:g.(?_6644594)_(6645499_?)dup
NC_000009.12:g.(?_6532997)_(6540166_?)dup
NC_000009.12:g.(?_6532997)_(6645519_?)del
NC_000009.12:g.(?_6533007)_(6550924_?)del
NC_000009.12:g.(?_6533007)_(6610366_?)del
NC_000009.12:g.(?_6550783)_(6620339_?)del
NC_000009.12:g.(?_6550793)_(6610366_?)del
NC_000009.12:g.(?_6558539)_(6558704_?)del
NC_000009.12:g.(?_6558539)_(6565449_?)del
NC_000009.12:g.(?_6558539)_(6645519_?)del
NC_000009.12:g.(?_6587121)_(6606689_?)del
NC_000009.12:g.(?_6587121)_(6645519_?)del
NC_000009.12:g.(?_6587131)_(6606679_?)del
NC_000009.12:g.(?_6592841)_(6620329_?)del
NC_000009.12:g.(?_6595004)_(6620329_?)del
NC_000009.12:g.(?_6604568)_(6645519_?)del
NC_000009.12:g.(?_6606572)_(6606689_?)del
NC_000009.12:g.(?_6606582)_(6606679_?)del
NC_000009.12:g.(?_6610172)_(6645519_?)del
NC_000009.12:g.(?_6620164)_(6620339_?)del
NC_000009.12:g.(?_6620174)_(6620329_?)del
NC_000009.12:g.(?_6620174)_(6645509_?)del
NC_000009.12:g.(?_6644594)_(6645519_?)del
NC_000009.12:g.(?_6644604)_(6645509_?)del
NC_000016.10:g.(?_81082846)_(81096298_?)del
NC_000016.9:g.(?_81121196)_(81129883_?)del
NM_000170.3(GLDC):c.*378G>T rs907978914
NM_000170.3(GLDC):c.*410G>A rs35834773
NM_000170.3(GLDC):c.*410G>C rs35834773
NM_000170.3(GLDC):c.*505_*506del rs3215922
NM_000170.3(GLDC):c.-173T>G rs1039584725
NM_000170.3(GLDC):c.1002dup (p.Ala335fs) rs386833516
NM_000170.3(GLDC):c.1007T>C (p.Val336Ala) rs1563856669
NM_000170.3(GLDC):c.1008C>A (p.Val336=)
NM_000170.3(GLDC):c.1009C>A (p.Arg337=)
NM_000170.3(GLDC):c.1011A>G (p.Arg337=) rs2129895844
NM_000170.3(GLDC):c.1012G>T (p.Glu338Ter) rs1818692381
NM_000170.3(GLDC):c.1020G>C (p.Leu340Phe)
NM_000170.3(GLDC):c.1023G>A (p.Val341=) rs2129895800
NM_000170.3(GLDC):c.102C>T (p.Ser34=)
NM_000170.3(GLDC):c.1035T>C (p.Pro345=)
NM_000170.3(GLDC):c.1039A>T (p.Arg347Ter) rs555359738
NM_000170.3(GLDC):c.1040G>A (p.Arg347Lys)
NM_000170.3(GLDC):c.1041A>C (p.Arg347Ser) rs1818691758
NM_000170.3(GLDC):c.1048G>C (p.Gly350Arg)
NM_000170.3(GLDC):c.1051del (p.Gly350_Val351insTer) rs2129895643
NM_000170.3(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.3(GLDC):c.1055C>G (p.Thr352Arg) rs1554648060
NM_000170.3(GLDC):c.1055C>T (p.Thr352Ile)
NM_000170.3(GLDC):c.1057_1058+13del
NM_000170.3(GLDC):c.1058+10C>G rs774499942
NM_000170.3(GLDC):c.1058+10del
NM_000170.3(GLDC):c.1058+12C>A rs1043292818
NM_000170.3(GLDC):c.1058+12C>T rs1043292818
NM_000170.3(GLDC):c.1058+13A>G
NM_000170.3(GLDC):c.1058+16T>C
NM_000170.3(GLDC):c.1058+17T>C
NM_000170.3(GLDC):c.1058+2T>A rs1587959976
NM_000170.3(GLDC):c.1058+2T>C
NM_000170.3(GLDC):c.1058+9G>A rs1363690964
NM_000170.3(GLDC):c.1058+9G>C rs1363690964
NM_000170.3(GLDC):c.1058G>A (p.Arg353Lys)
NM_000170.3(GLDC):c.1059-14T>C
NM_000170.3(GLDC):c.1059-16C>T
NM_000170.3(GLDC):c.1059-1G>C rs1587958061
NM_000170.3(GLDC):c.1059-1G>T rs1587958061
NM_000170.3(GLDC):c.1059-4G>A
NM_000170.3(GLDC):c.1059-6G>A
NM_000170.3(GLDC):c.1059-6del
NM_000170.3(GLDC):c.1063G>A (p.Ala355Thr) rs1291866387
NM_000170.3(GLDC):c.1064C>T (p.Ala355Val)
NM_000170.3(GLDC):c.1068T>C (p.Thr356=) rs2129885580
NM_000170.3(GLDC):c.1069G>A (p.Gly357Arg) rs941998596
NM_000170.3(GLDC):c.106G>C (p.Asp36His) rs573883784
NM_000170.3(GLDC):c.1072A>T (p.Lys358Ter) rs1818624667
NM_000170.3(GLDC):c.1074A>G (p.Lys358=)
NM_000170.3(GLDC):c.1075G>A (p.Glu359Lys) rs1818624630
NM_000170.3(GLDC):c.107A>G (p.Asp36Gly)
NM_000170.3(GLDC):c.1080G>A (p.Val360=) rs745502236
NM_000170.3(GLDC):c.1080G>C (p.Val360=) rs745502236
NM_000170.3(GLDC):c.1083T>G (p.Tyr361Ter) rs2129885505
NM_000170.3(GLDC):c.1084C>T (p.Arg362Cys) rs10975674
NM_000170.3(GLDC):c.1087C>A (p.Leu363Ile) rs2129885472
NM_000170.3(GLDC):c.1089T>G (p.Leu363=)
NM_000170.3(GLDC):c.108C>T (p.Asp36=) rs1819723828
NM_000170.3(GLDC):c.1094T>C (p.Leu365Pro)
NM_000170.3(GLDC):c.1096C>T (p.Gln366Ter)
NM_000170.3(GLDC):c.1097A>G (p.Gln366Arg)
NM_000170.3(GLDC):c.109A>C (p.Ser37Arg) rs1819723770
NM_000170.3(GLDC):c.10T>C (p.Cys4Arg) rs2130033101
NM_000170.3(GLDC):c.1100C>A (p.Thr367Asn) rs1183976692
NM_000170.3(GLDC):c.1100C>T (p.Thr367Ile) rs1183976692
NM_000170.3(GLDC):c.1101C>A (p.Thr367=) rs2129885400
NM_000170.3(GLDC):c.1101C>T (p.Thr367=)
NM_000170.3(GLDC):c.1108C>A (p.Gln370Lys) rs570097430
NM_000170.3(GLDC):c.1108C>T (p.Gln370Ter) rs570097430
NM_000170.3(GLDC):c.1111C>G (p.His371Asp) rs386833519
NM_000170.3(GLDC):c.1118G>A (p.Arg373Gln) rs2129885269
NM_000170.3(GLDC):c.1118G>C (p.Arg373Pro)
NM_000170.3(GLDC):c.1119G>C (p.Arg373=)
NM_000170.3(GLDC):c.1127A>C (p.Lys376Thr) rs1300550278
NM_000170.3(GLDC):c.1128G>A (p.Lys376=) rs751362445
NM_000170.3(GLDC):c.1128G>T (p.Lys376Asn)
NM_000170.3(GLDC):c.1137C>T (p.Ser379=) rs762926339
NM_000170.3(GLDC):c.1142T>C (p.Ile381Thr) rs775502762
NM_000170.3(GLDC):c.1143C>T (p.Ile381=) rs755376052
NM_000170.3(GLDC):c.1143del (p.Cys382fs)
NM_000170.3(GLDC):c.1145G>C (p.Cys382Ser)
NM_000170.3(GLDC):c.1148C>T (p.Thr383Ile)
NM_000170.3(GLDC):c.1155+12G>T
NM_000170.3(GLDC):c.1155+14C>G
NM_000170.3(GLDC):c.1155+16G>A
NM_000170.3(GLDC):c.1155+16G>C rs1370343582
NM_000170.3(GLDC):c.1155+17A>G
NM_000170.3(GLDC):c.1155+18C>T
NM_000170.3(GLDC):c.1155+1G>T
NM_000170.3(GLDC):c.1155+7C>T
NM_000170.3(GLDC):c.1155+8A>C rs2129885109
NM_000170.3(GLDC):c.1155+9C>G rs994997633
NM_000170.3(GLDC):c.1155+9C>T rs994997633
NM_000170.3(GLDC):c.1156-14T>C rs1243954142
NM_000170.3(GLDC):c.1156-17A>T
NM_000170.3(GLDC):c.1156-20T>C
NM_000170.3(GLDC):c.1156-4T>G rs2129862068
NM_000170.3(GLDC):c.1156-4_1156-3del
NM_000170.3(GLDC):c.1156-7C>A rs150095531
NM_000170.3(GLDC):c.1156G>A (p.Ala386Thr)
NM_000170.3(GLDC):c.1158C>A (p.Ala386=)
NM_000170.3(GLDC):c.1158C>T (p.Ala386=)
NM_000170.3(GLDC):c.1161C>A (p.Leu387=) rs781613958
NM_000170.3(GLDC):c.1161C>G (p.Leu387=) rs781613958
NM_000170.3(GLDC):c.1162T>C (p.Leu388=)
NM_000170.3(GLDC):c.1167G>A (p.Ala389=) rs199901045
NM_000170.3(GLDC):c.1167G>C (p.Ala389=) rs199901045
NM_000170.3(GLDC):c.1175del (p.Ala392fs) rs386833520
NM_000170.3(GLDC):c.1179C>T (p.Ala393=)
NM_000170.3(GLDC):c.1183T>C (p.Phe395Leu) rs767200188
NM_000170.3(GLDC):c.1185T>C (p.Phe395=)
NM_000170.3(GLDC):c.1188A>G (p.Ala396=) rs2129861872
NM_000170.3(GLDC):c.118G>A (p.Gly40Ser)
NM_000170.3(GLDC):c.1191C>T (p.Ile397=)
NM_000170.3(GLDC):c.1194C>A (p.Tyr398Ter) rs1226098656
NM_000170.3(GLDC):c.1194C>G (p.Tyr398Ter)
NM_000170.3(GLDC):c.1196A>G (p.His399Arg)
NM_000170.3(GLDC):c.1202C>T (p.Ser401Phe) rs1563852496
NM_000170.3(GLDC):c.1203C>T (p.Ser401=) rs768917100
NM_000170.3(GLDC):c.1205A>G (p.His402Arg) rs763451428
NM_000170.3(GLDC):c.1206T>A (p.His402Gln) rs776207334
NM_000170.3(GLDC):c.120C>A (p.Gly40=)
NM_000170.3(GLDC):c.120C>G (p.Gly40=) rs775879413
NM_000170.3(GLDC):c.1214A>G (p.Glu405Gly) rs1387648444
NM_000170.3(GLDC):c.1217A>G (p.His406Arg) rs1818464686
NM_000170.3(GLDC):c.1218T>C (p.His406=) rs2129861696
NM_000170.3(GLDC):c.1221T>A (p.Ile407=)
NM_000170.3(GLDC):c.1222G>T (p.Ala408Ser) rs1387492186
NM_000170.3(GLDC):c.1227G>A (p.Arg409=) rs778700604
NM_000170.3(GLDC):c.1227G>C (p.Arg409Ser)
NM_000170.3(GLDC):c.122del (p.Gly41fs) rs2130032358
NM_000170.3(GLDC):c.1230G>T (p.Arg410Ser)
NM_000170.3(GLDC):c.1233A>G (p.Val411=)
NM_000170.3(GLDC):c.1237A>T (p.Asn413Tyr)
NM_000170.3(GLDC):c.1239T>C (p.Asn413=)
NM_000170.3(GLDC):c.1242C>G (p.Ala414=) rs761471932
NM_000170.3(GLDC):c.1254G>A (p.Leu418=)
NM_000170.3(GLDC):c.1254G>C (p.Leu418Phe)
NM_000170.3(GLDC):c.1256C>G (p.Ser419Ter) rs1227030484
NM_000170.3(GLDC):c.1257A>G (p.Ser419=) rs1818463744
NM_000170.3(GLDC):c.1261+12A>G
NM_000170.3(GLDC):c.1261+13T>C
NM_000170.3(GLDC):c.1261+14C>G
NM_000170.3(GLDC):c.1261+1G>C
NM_000170.3(GLDC):c.1261+2T>A rs1818463608
NM_000170.3(GLDC):c.1261+3G>A rs763285478
NM_000170.3(GLDC):c.1261+5G>A
NM_000170.3(GLDC):c.1261+6T>A rs931422809
NM_000170.3(GLDC):c.1261+9G>T rs2129861490
NM_000170.3(GLDC):c.1262-11A>C
NM_000170.3(GLDC):c.1262-11A>G
NM_000170.3(GLDC):c.1262-12T>C
NM_000170.3(GLDC):c.1262-13C>T
NM_000170.3(GLDC):c.1262-15T>C
NM_000170.3(GLDC):c.1262-16C>A
NM_000170.3(GLDC):c.1262-16C>T
NM_000170.3(GLDC):c.1262-17T>A rs2129853883
NM_000170.3(GLDC):c.1262-17T>C
NM_000170.3(GLDC):c.1262-19G>C
NM_000170.3(GLDC):c.1262-19G>T
NM_000170.3(GLDC):c.1262-20G>A
NM_000170.3(GLDC):c.1262-4G>A rs549797631
NM_000170.3(GLDC):c.1262-4G>T rs549797631
NM_000170.3(GLDC):c.1262-7T>C
NM_000170.3(GLDC):c.1262-9C>T
NM_000170.3(GLDC):c.1262-9_1262-8insA rs2129853829
NM_000170.3(GLDC):c.1263T>A (p.Gly421=) rs1403086128
NM_000170.3(GLDC):c.1263T>C (p.Gly421=) rs1403086128
NM_000170.3(GLDC):c.1264C>A (p.Leu422Ile) rs1554647026
NM_000170.3(GLDC):c.1266C>T (p.Leu422=)
NM_000170.3(GLDC):c.1267A>G (p.Lys423Glu)
NM_000170.3(GLDC):c.1269G>A (p.Lys423=) rs1334975700
NM_000170.3(GLDC):c.1271G>A (p.Arg424Gln) rs2129853745
NM_000170.3(GLDC):c.1272A>C (p.Arg424=)
NM_000170.3(GLDC):c.1274C>T (p.Ala425Val)
NM_000170.3(GLDC):c.1278G>A (p.Gly426=) rs1554647023
NM_000170.3(GLDC):c.127G>T (p.Asp43Tyr) rs1819723104
NM_000170.3(GLDC):c.1284A>C (p.Gln428His)
NM_000170.3(GLDC):c.1285C>G (p.Leu429Val)
NM_000170.3(GLDC):c.1285_1286insCAAA (p.Leu429fs) rs386833522
NM_000170.3(GLDC):c.1287C>G (p.Leu429=) rs2129853644
NM_000170.3(GLDC):c.1288C>T (p.Gln430Ter) rs1818407147
NM_000170.3(GLDC):c.1290G>C (p.Gln430His) rs1408480389
NM_000170.3(GLDC):c.1293del (p.His431fs)
NM_000170.3(GLDC):c.1296C>T (p.Asp432=) rs766465179
NM_000170.3(GLDC):c.1299del (p.Phe434fs)
NM_000170.3(GLDC):c.130A>T (p.Ser44Cys) rs2130032299
NM_000170.3(GLDC):c.1311C>G (p.Thr437=) rs1317859936
NM_000170.3(GLDC):c.1311C>T (p.Thr437=) rs1317859936
NM_000170.3(GLDC):c.1314G>C (p.Leu438Phe) rs1286813560
NM_000170.3(GLDC):c.1319T>A (p.Ile440Asn) rs386833523
NM_000170.3(GLDC):c.1319T>C (p.Ile440Thr) rs386833523
NM_000170.3(GLDC):c.1323G>A (p.Gln441=)
NM_000170.3(GLDC):c.1326T>C (p.Cys442=)
NM_000170.3(GLDC):c.1333_1334del (p.Val446fs)
NM_000170.3(GLDC):c.1336G>A (p.Val446Met)
NM_000170.3(GLDC):c.1337del (p.Val446fs) rs1587951033
NM_000170.3(GLDC):c.1338G>A (p.Val446=)
NM_000170.3(GLDC):c.1339A>T (p.Lys447Ter) rs1818405533
NM_000170.3(GLDC):c.1340A>T (p.Lys447Met) rs1161073883
NM_000170.3(GLDC):c.1342G>T (p.Glu448Ter) rs777365335
NM_000170.3(GLDC):c.1344G>A (p.Glu448=) rs758064858
NM_000170.3(GLDC):c.1353C>T (p.Gly451=)
NM_000170.3(GLDC):c.1356G>A (p.Arg452=) rs1818404846
NM_000170.3(GLDC):c.1357G>T (p.Ala453Ser) rs1057515607
NM_000170.3(GLDC):c.1359C>G (p.Ala453=)
NM_000170.3(GLDC):c.1360G>A (p.Ala454Thr)
NM_000170.3(GLDC):c.1363C>A (p.Gln455Lys) rs1818404451
NM_000170.3(GLDC):c.1363C>T (p.Gln455Ter) rs1818404451
NM_000170.3(GLDC):c.1364A>G (p.Gln455Arg)
NM_000170.3(GLDC):c.1368G>C (p.Arg456=)
NM_000170.3(GLDC):c.1370A>G (p.Gln457Arg)
NM_000170.3(GLDC):c.1371G>A (p.Gln457=) rs2129853083
NM_000170.3(GLDC):c.1378T>G (p.Phe460Val) rs2129853060
NM_000170.3(GLDC):c.1381C>A (p.Arg461=) rs761957837
NM_000170.3(GLDC):c.1383G>C (p.Arg461=)
NM_000170.3(GLDC):c.1386T>C (p.Leu462=)
NM_000170.3(GLDC):c.1388T>C (p.Phe463Ser) rs1818403390
NM_000170.3(GLDC):c.1394A>G (p.Asp465Gly) rs2129852952
NM_000170.3(GLDC):c.1398C>A (p.Gly466=)
NM_000170.3(GLDC):c.139G>A (p.Ala47Thr)
NM_000170.3(GLDC):c.139G>C (p.Ala47Pro)
NM_000170.3(GLDC):c.13G>T (p.Ala5Ser)
NM_000170.3(GLDC):c.1401+10del
NM_000170.3(GLDC):c.1401+17G>A
NM_000170.3(GLDC):c.1401+17G>C rs2129852854
NM_000170.3(GLDC):c.1401+18T>C
NM_000170.3(GLDC):c.1401+19A>G
NM_000170.3(GLDC):c.1401+5G>T
NM_000170.3(GLDC):c.1402-12G>C
NM_000170.3(GLDC):c.1402-13T>G
NM_000170.3(GLDC):c.1402-14T>A
NM_000170.3(GLDC):c.1402-16G>T
NM_000170.3(GLDC):c.1402-1G>A rs386833525
NM_000170.3(GLDC):c.1402-1G>C rs386833525
NM_000170.3(GLDC):c.1402-3T>G
NM_000170.3(GLDC):c.1405G>C (p.Gly469Arg) rs1587950355
NM_000170.3(GLDC):c.1411T>C (p.Ser471Pro) rs2129850481
NM_000170.3(GLDC):c.1412C>G (p.Ser471Cys)
NM_000170.3(GLDC):c.1413T>C (p.Ser471=)
NM_000170.3(GLDC):c.1416T>C (p.Leu472=)
NM_000170.3(GLDC):c.1419T>C (p.Asp473=) rs2129850459
NM_000170.3(GLDC):c.141T>A (p.Ala47=) rs1819722643
NM_000170.3(GLDC):c.141T>G (p.Ala47=)
NM_000170.3(GLDC):c.1428C>A (p.Val476=)
NM_000170.3(GLDC):c.1438del (p.Asp480fs)
NM_000170.3(GLDC):c.1441C>T (p.Leu481=)
NM_000170.3(GLDC):c.1444dup (p.Asp482fs) rs386833526
NM_000170.3(GLDC):c.1446C>G (p.Asp482Glu) rs201147701
NM_000170.3(GLDC):c.1450T>C (p.Leu484=)
NM_000170.3(GLDC):c.1455G>A (p.Leu485=)
NM_000170.3(GLDC):c.145G>T (p.Ala49Ser)
NM_000170.3(GLDC):c.1464T>C (p.Phe488=)
NM_000170.3(GLDC):c.1466G>A (p.Gly489Asp) rs767519430
NM_000170.3(GLDC):c.1470T>G (p.Cys490Trp) rs1183108459
NM_000170.3(GLDC):c.1471G>A (p.Glu491Lys) rs1818387020
NM_000170.3(GLDC):c.1476A>T (p.Ser492=) rs768290485
NM_000170.3(GLDC):c.1479T>C (p.Ser493=)
NM_000170.3(GLDC):c.147C>A (p.Ala49=)
NM_000170.3(GLDC):c.147C>G (p.Ala49=)
NM_000170.3(GLDC):c.1482+11T>C
NM_000170.3(GLDC):c.1482+18A>C rs770032700
NM_000170.3(GLDC):c.1482+18A>G
NM_000170.3(GLDC):c.1482+20G>A
NM_000170.3(GLDC):c.1482+6T>C
NM_000170.3(GLDC):c.1483-13G>A
NM_000170.3(GLDC):c.1483-13_1483-12del
NM_000170.3(GLDC):c.1483-16dup
NM_000170.3(GLDC):c.1483-19C>G
NM_000170.3(GLDC):c.1483-19C>T
NM_000170.3(GLDC):c.1483-3C>G
NM_000170.3(GLDC):c.1483-5T>C rs2129840025
NM_000170.3(GLDC):c.1483-7C>T rs1818331244
NM_000170.3(GLDC):c.1483-9C>T rs2129840047
NM_000170.3(GLDC):c.1483G>C (p.Glu495Gln) rs1554646734
NM_000170.3(GLDC):c.1484_1489del rs778109389
NM_000170.3(GLDC):c.1488G>T (p.Leu496=)
NM_000170.3(GLDC):c.1489G>A (p.Val497Ile)
NM_000170.3(GLDC):c.1489G>T (p.Val497Phe) rs1389059785
NM_000170.3(GLDC):c.1491T>C (p.Val497=)
NM_000170.3(GLDC):c.1493C>T (p.Ala498Val)
NM_000170.3(GLDC):c.1495G>A (p.Glu499Lys)
NM_000170.3(GLDC):c.1505G>C (p.Gly502Ala)
NM_000170.3(GLDC):c.1506_1507insCACTT (p.Glu503fs)
NM_000170.3(GLDC):c.150G>T (p.Ser50=) rs768354829
NM_000170.3(GLDC):c.1510G>T (p.Glu504Ter) rs1038321056
NM_000170.3(GLDC):c.1512G>C (p.Glu504Asp)
NM_000170.3(GLDC):c.1514G>A (p.Cys505Tyr)
NM_000170.3(GLDC):c.1515C>T (p.Cys505=) rs2129839857
NM_000170.3(GLDC):c.1530G>C (p.Gly510=)
NM_000170.3(GLDC):c.1530G>T (p.Gly510=)
NM_000170.3(GLDC):c.1536G>T (p.Val512=)
NM_000170.3(GLDC):c.1539C>G (p.Phe513Leu)
NM_000170.3(GLDC):c.153C>T (p.Arg51=)
NM_000170.3(GLDC):c.1543A>C (p.Arg515=)
NM_000170.3(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.1551C>T (p.Ser517=) rs750825656
NM_000170.3(GLDC):c.1553C>A (p.Pro518Gln) rs761064507
NM_000170.3(GLDC):c.1553C>G (p.Pro518Arg) rs761064507
NM_000170.3(GLDC):c.1553C>T (p.Pro518Leu) rs761064507
NM_000170.3(GLDC):c.1554G>A (p.Pro518=) rs377219563
NM_000170.3(GLDC):c.1554G>C (p.Pro518=) rs377219563
NM_000170.3(GLDC):c.1554G>T (p.Pro518=)
NM_000170.3(GLDC):c.1563C>A (p.Thr521=) rs768689997
NM_000170.3(GLDC):c.1563C>T (p.Thr521=) rs768689997
NM_000170.3(GLDC):c.1566T>A (p.His522Gln)
NM_000170.3(GLDC):c.156C>A (p.Leu52=) rs779860452
NM_000170.3(GLDC):c.156_167del (p.Glu54_Leu57del) rs1554652793
NM_000170.3(GLDC):c.1576A>C (p.Asn526His) rs898444750
NM_000170.3(GLDC):c.1576A>T (p.Asn526Tyr)
NM_000170.3(GLDC):c.1579A>C (p.Ser527Arg)
NM_000170.3(GLDC):c.1580+13T>C rs1563849682
NM_000170.3(GLDC):c.1580+15T>G
NM_000170.3(GLDC):c.1580+16G>T rs1818327175
NM_000170.3(GLDC):c.1580+17T>C
NM_000170.3(GLDC):c.1580+17T>G
NM_000170.3(GLDC):c.1580+1G>C
NM_000170.3(GLDC):c.1580+2T>G rs1554646710
NM_000170.3(GLDC):c.1580+5G>T rs764790596
NM_000170.3(GLDC):c.1580+7G>A
NM_000170.3(GLDC):c.1580+7G>C rs1205124797
NM_000170.3(GLDC):c.1580+7G>T
NM_000170.3(GLDC):c.1580G>C (p.Ser527Thr) rs1247180998
NM_000170.3(GLDC):c.1581-10G>A
NM_000170.3(GLDC):c.1581-17G>C
NM_000170.3(GLDC):c.1581-19C>T
NM_000170.3(GLDC):c.1581-42_1665+5del rs2129837171
NM_000170.3(GLDC):c.1581-5C>G rs184463452
NM_000170.3(GLDC):c.1581-8G>A
NM_000170.3(GLDC):c.1584C>A (p.Tyr528Ter)
NM_000170.3(GLDC):c.1587C>T (p.His529=)
NM_000170.3(GLDC):c.1590T>C (p.Ser530=) rs2129837600
NM_000170.3(GLDC):c.1593A>G (p.Glu531=)
NM_000170.3(GLDC):c.1595C>G (p.Thr532Arg) rs386833527
NM_000170.3(GLDC):c.1596A>C (p.Thr532=) rs2129837578
NM_000170.3(GLDC):c.1597A>T (p.Asn533Tyr) rs386833528
NM_000170.3(GLDC):c.159G>A (p.Leu53=)
NM_000170.3(GLDC):c.15C>A (p.Ala5=) rs1217742509
NM_000170.3(GLDC):c.1600A>G (p.Ile534Val)
NM_000170.3(GLDC):c.1602T>C (p.Ile534=) rs201758383
NM_000170.3(GLDC):c.160_171del (p.Glu54_Leu57del) rs1554652791
NM_000170.3(GLDC):c.1611C>A (p.Tyr537Ter)
NM_000170.3(GLDC):c.1611C>G (p.Tyr537Ter) rs1818317328
NM_000170.3(GLDC):c.1611C>T (p.Tyr537=)
NM_000170.3(GLDC):c.1619_1621delinsT (p.Lys540fs)
NM_000170.3(GLDC):c.1621C>T (p.Leu541=)
NM_000170.3(GLDC):c.1623G>T (p.Leu541=)
NM_000170.3(GLDC):c.1629del (p.Asn543fs) rs1345599468
NM_000170.3(GLDC):c.1630A>G (p.Lys544Glu)
NM_000170.3(GLDC):c.1635C>G (p.Asp545Glu) rs2129837376
NM_000170.3(GLDC):c.1635C>T (p.Asp545=) rs2129837376
NM_000170.3(GLDC):c.1636del (p.Ile546fs) rs1818316799
NM_000170.3(GLDC):c.1638_1655del (p.Ile546_Ser551del)
NM_000170.3(GLDC):c.1641C>T (p.Ser547=)
NM_000170.3(GLDC):c.1642C>G (p.Leu548Val) rs1554646653
NM_000170.3(GLDC):c.1644T>C (p.Leu548=) rs750071045
NM_000170.3(GLDC):c.164G>A (p.Arg55His) rs1195896229
NM_000170.3(GLDC):c.1652G>A (p.Ser551Asn)
NM_000170.3(GLDC):c.1654A>G (p.Met552Val) rs386833529
NM_000170.3(GLDC):c.1658T>G (p.Ile553Ser) rs2129837261
NM_000170.3(GLDC):c.165C>T (p.Arg55=) rs1481397059
NM_000170.3(GLDC):c.1661C>T (p.Pro554Leu) rs1244239144
NM_000170.3(GLDC):c.1662A>G (p.Pro554=) rs547588947
NM_000170.3(GLDC):c.1665+11G>C
NM_000170.3(GLDC):c.1665+12T>C
NM_000170.3(GLDC):c.1665+14G>A
NM_000170.3(GLDC):c.1665+16C>T
NM_000170.3(GLDC):c.1665+17T>G
NM_000170.3(GLDC):c.1665+1G>A rs267602258
NM_000170.3(GLDC):c.1665+2del
NM_000170.3(GLDC):c.1665+7A>G
NM_000170.3(GLDC):c.1665+8T>C
NM_000170.3(GLDC):c.1666-13G>A
NM_000170.3(GLDC):c.1666-15A>G
NM_000170.3(GLDC):c.1666-1G>A
NM_000170.3(GLDC):c.1666-6T>A
NM_000170.3(GLDC):c.1666-8T>C rs2129836483
NM_000170.3(GLDC):c.1668A>G (p.Gly556=) rs760801304
NM_000170.3(GLDC):c.1671C>G (p.Ser557=) rs2129836432
NM_000170.3(GLDC):c.1674C>T (p.Cys558=) rs1469574000
NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn) rs1554646634
NM_000170.3(GLDC):c.1677C>A (p.Thr559=)
NM_000170.3(GLDC):c.1678A>G (p.Met560Val) rs1818312039
NM_000170.3(GLDC):c.1686G>A (p.Leu562=)
NM_000170.3(GLDC):c.1689C>G (p.Asn563Lys) rs546431385
NM_000170.3(GLDC):c.168T>C (p.Leu56=)
NM_000170.3(GLDC):c.1697C>A (p.Ser566Tyr)
NM_000170.3(GLDC):c.1698T>G (p.Ser566=) rs2129836314
NM_000170.3(GLDC):c.16A>C (p.Arg6=)
NM_000170.3(GLDC):c.1704C>T (p.Leu568=) rs919319637
NM_000170.3(GLDC):c.1705G>C (p.Ala569Pro) rs151268759
NM_000170.3(GLDC):c.1706C>T (p.Ala569Val) rs1263586630
NM_000170.3(GLDC):c.1707+11C>T rs2129836174
NM_000170.3(GLDC):c.1707+12A>T
NM_000170.3(GLDC):c.1707+13C>T
NM_000170.3(GLDC):c.1707+17T>C
NM_000170.3(GLDC):c.1707+18G>A
NM_000170.3(GLDC):c.1707+5G>C rs1587947174
NM_000170.3(GLDC):c.1708-18T>C
NM_000170.3(GLDC):c.1708-9T>G rs2129832194
NM_000170.3(GLDC):c.1708C>G (p.Pro570Ala) rs1289915951
NM_000170.3(GLDC):c.1709del (p.Pro570fs)
NM_000170.3(GLDC):c.1711A>G (p.Ile571Val)
NM_000170.3(GLDC):c.1714A>G (p.Thr572Ala)
NM_000170.3(GLDC):c.1718G>A (p.Trp573Ter) rs959935793
NM_000170.3(GLDC):c.1722A>C (p.Lys574Asn) rs1554646530
NM_000170.3(GLDC):c.1722A>G (p.Lys574=)
NM_000170.3(GLDC):c.1726T>G (p.Phe576Val) rs2129832067
NM_000170.3(GLDC):c.1729G>A (p.Ala577Thr) rs1818290393
NM_000170.3(GLDC):c.172C>T (p.Pro58Ser) rs780963698
NM_000170.3(GLDC):c.1731A>C (p.Ala577=)
NM_000170.3(GLDC):c.1735A>G (p.Ile579Val) rs2129832016
NM_000170.3(GLDC):c.1738C>G (p.His580Asp) rs1164241828
NM_000170.3(GLDC):c.1740C>G (p.His580Gln) rs1587946346
NM_000170.3(GLDC):c.1740C>T (p.His580=) rs1587946346
NM_000170.3(GLDC):c.1743C>A (p.Pro581=)
NM_000170.3(GLDC):c.1743C>T (p.Pro581=)
NM_000170.3(GLDC):c.1749G>A (p.Val583=)
NM_000170.3(GLDC):c.174C>T (p.Pro58=)
NM_000170.3(GLDC):c.1756G>T (p.Asp586Tyr) rs1042809307
NM_000170.3(GLDC):c.1765C>T (p.Gln589Ter) rs1818289368
NM_000170.3(GLDC):c.1768G>T (p.Gly590Ter) rs1818289261
NM_000170.3(GLDC):c.176G>A (p.Arg59Lys) rs386833530
NM_000170.3(GLDC):c.176G>C (p.Arg59Thr) rs386833530
NM_000170.3(GLDC):c.1773T>C (p.Tyr591=) rs2129831810
NM_000170.3(GLDC):c.1774C>T (p.Gln592Ter) rs1818289122
NM_000170.3(GLDC):c.1776G>A (p.Gln592=)
NM_000170.3(GLDC):c.1779G>C (p.Gln593His)
NM_000170.3(GLDC):c.1789G>T (p.Glu597Ter) rs2129831711
NM_000170.3(GLDC):c.1797G>A (p.Glu599=) rs1587946274
NM_000170.3(GLDC):c.1800_1801insAGACAGT (p.Asp601delinsArgGlnTer)
NM_000170.3(GLDC):c.1801G>C (p.Asp601His)
NM_000170.3(GLDC):c.1805dup (p.Leu602fs)
NM_000170.3(GLDC):c.1806G>A (p.Leu602=) rs2129831668
NM_000170.3(GLDC):c.180C>T (p.His60=)
NM_000170.3(GLDC):c.1811_1812insCACTCAGCAGCAG (p.Glu604fs)
NM_000170.3(GLDC):c.1812del (p.Glu604fs) rs2129831647
NM_000170.3(GLDC):c.1816A>G (p.Thr606Ala) rs2129831606
NM_000170.3(GLDC):c.1819G>A (p.Gly607Ser) rs1554646517
NM_000170.3(GLDC):c.181GAC[1] (p.Asp62del) rs1554652789
NM_000170.3(GLDC):c.1820G>C (p.Gly607Ala) rs1818288295
NM_000170.3(GLDC):c.1822T>G (p.Tyr608Asp)
NM_000170.3(GLDC):c.1822_1832del (p.Tyr608fs) rs386833532
NM_000170.3(GLDC):c.1825_1826del (p.Asp609fs)
NM_000170.3(GLDC):c.1829A>G (p.Gln610Arg)
NM_000170.3(GLDC):c.1832T>G (p.Val611Gly) rs386833533
NM_000170.3(GLDC):c.1833C>T (p.Val611=)
NM_000170.3(GLDC):c.183C>G (p.Asp61Glu) rs375497905
NM_000170.3(GLDC):c.183C>T (p.Asp61=) rs375497905
NM_000170.3(GLDC):c.1842G>T (p.Gln614His)
NM_000170.3(GLDC):c.1843C>A (p.Pro615Thr) rs2129831448
NM_000170.3(GLDC):c.1844C>T (p.Pro615Leu) rs2129831443
NM_000170.3(GLDC):c.1846A>G (p.Asn616Asp) rs2129831435
NM_000170.3(GLDC):c.1847A>G (p.Asn616Ser)
NM_000170.3(GLDC):c.1847A>T (p.Asn616Ile) rs1818287644
NM_000170.3(GLDC):c.184G>T (p.Asp62Tyr) rs2130032047
NM_000170.3(GLDC):c.1850+12del
NM_000170.3(GLDC):c.1850+14T>C
NM_000170.3(GLDC):c.1850+17T>C
NM_000170.3(GLDC):c.1850+18C>G
NM_000170.3(GLDC):c.1850+1G>T rs774099283
NM_000170.3(GLDC):c.1850+1del rs1399754800
NM_000170.3(GLDC):c.1850+6G>A
NM_000170.3(GLDC):c.1850+8C>A rs1326427792
NM_000170.3(GLDC):c.1850+8C>T rs1326427792
NM_000170.3(GLDC):c.1850+9A>G rs2129831335
NM_000170.3(GLDC):c.1850G>C (p.Ser617Thr)
NM_000170.3(GLDC):c.1851-14_1851-12del
NM_000170.3(GLDC):c.1851-1G>A
NM_000170.3(GLDC):c.1852G>T (p.Gly618Ter) rs758575745
NM_000170.3(GLDC):c.1853G>A (p.Gly618Glu) rs1563839743
NM_000170.3(GLDC):c.1862del (p.Gly621fs) rs1449126451
NM_000170.3(GLDC):c.1863A>T (p.Gly621=)
NM_000170.3(GLDC):c.1868A>T (p.Tyr623Phe) rs2129758401
NM_000170.3(GLDC):c.1868_1869dup (p.Ala624fs) rs772068893
NM_000170.3(GLDC):c.1869T>C (p.Tyr623=) rs2129758380
NM_000170.3(GLDC):c.186C>T (p.Asp62=) rs1462209032
NM_000170.3(GLDC):c.1871C>G (p.Ala624Gly) rs779980470
NM_000170.3(GLDC):c.1873G>T (p.Gly625Ter)
NM_000170.3(GLDC):c.1881C>G (p.Ala627=) rs2129758314
NM_000170.3(GLDC):c.1885A>G (p.Ile629Val) rs761680597
NM_000170.3(GLDC):c.1889G>C (p.Arg630Pro) rs763517274
NM_000170.3(GLDC):c.1893C>G (p.Ala631=)
NM_000170.3(GLDC):c.1893C>T (p.Ala631=) rs565751857
NM_000170.3(GLDC):c.1896C>G (p.Tyr632Ter) rs1272244088
NM_000170.3(GLDC):c.1898T>G (p.Leu633Ter) rs2129758221
NM_000170.3(GLDC):c.189C>T (p.Phe63=)
NM_000170.3(GLDC):c.1903C>T (p.Gln635Ter) rs2129758198
NM_000170.3(GLDC):c.1908A>G (p.Lys636=) rs552960907
NM_000170.3(GLDC):c.190G>A (p.Ala64Thr) rs141601131
NM_000170.3(GLDC):c.190G>T (p.Ala64Ser) rs141601131
NM_000170.3(GLDC):c.1910G>A (p.Gly637Glu) rs759852256
NM_000170.3(GLDC):c.1914G>C (p.Glu638Asp) rs1200000126
NM_000170.3(GLDC):c.1917G>T (p.Gly639=)
NM_000170.3(GLDC):c.1923A>G (p.Arg641=)
NM_000170.3(GLDC):c.1926+12A>G
NM_000170.3(GLDC):c.1926+14G>T
NM_000170.3(GLDC):c.1926+17G>A
NM_000170.3(GLDC):c.1926+19G>C
NM_000170.3(GLDC):c.1926+1G>A rs386833534
NM_000170.3(GLDC):c.1926+3G>T rs1563839674
NM_000170.3(GLDC):c.1926+5G>A rs1554644678
NM_000170.3(GLDC):c.1926+8T>C rs1268260237
NM_000170.3(GLDC):c.1927-10T>C
NM_000170.3(GLDC):c.1927-11C>G
NM_000170.3(GLDC):c.1927-12T>G
NM_000170.3(GLDC):c.1927-13T>G
NM_000170.3(GLDC):c.1927-14T>C
NM_000170.3(GLDC):c.1927-15C>G
NM_000170.3(GLDC):c.1927-16C>G rs1817685878
NM_000170.3(GLDC):c.1927-19C>T
NM_000170.3(GLDC):c.1927-1G>A rs2129735367
NM_000170.3(GLDC):c.1927-21_1927-17del
NM_000170.3(GLDC):c.1927-4G>A rs576723612
NM_000170.3(GLDC):c.1927-6C>T
NM_000170.3(GLDC):c.1927-7T>C rs1174878870
NM_000170.3(GLDC):c.1927-8T>C
NM_000170.3(GLDC):c.1929T>G (p.Val643=)
NM_000170.3(GLDC):c.1931G>A (p.Cys644Tyr) rs386833535
NM_000170.3(GLDC):c.1931G>T (p.Cys644Phe) rs386833535
NM_000170.3(GLDC):c.1935C>A (p.Leu645=)
NM_000170.3(GLDC):c.1935C>G (p.Leu645=) rs1192928029
NM_000170.3(GLDC):c.1935C>T (p.Leu645=) rs1192928029
NM_000170.3(GLDC):c.1944del (p.Lys648fs)
NM_000170.3(GLDC):c.1947A>G (p.Ser649=)
NM_000170.3(GLDC):c.194G>A (p.Arg65Gln)
NM_000170.3(GLDC):c.194G>C (p.Arg65Pro)
NM_000170.3(GLDC):c.1950A>G (p.Ala650=) rs1458021364
NM_000170.3(GLDC):c.1951C>G (p.His651Asp) rs2129735272
NM_000170.3(GLDC):c.1952A>G (p.His651Arg) rs386833536
NM_000170.3(GLDC):c.1956G>A (p.Gly652=)
NM_000170.3(GLDC):c.1959C>T (p.Thr653=) rs2129735219
NM_000170.3(GLDC):c.195G>C (p.Arg65=) rs2130031993
NM_000170.3(GLDC):c.1970G>A (p.Ser657Asn) rs1301895668
NM_000170.3(GLDC):c.1971T>C (p.Ser657=)
NM_000170.3(GLDC):c.1974C>T (p.Ala658=) rs534062853
NM_000170.3(GLDC):c.1975C>T (p.His659Tyr)
NM_000170.3(GLDC):c.1978A>G (p.Met660Val)
NM_000170.3(GLDC):c.197G>C (p.Arg66Thr)
NM_000170.3(GLDC):c.197_198delinsAA (p.Arg66Lys) rs1554652780
NM_000170.3(GLDC):c.1983A>T (p.Ala661=)
NM_000170.3(GLDC):c.1996C>T (p.Gln666Ter) rs386833537
NM_000170.3(GLDC):c.1998G>A (p.Gln666=)
NM_000170.3(GLDC):c.2000C>T (p.Pro667Leu)
NM_000170.3(GLDC):c.2001T>C (p.Pro667=)
NM_000170.3(GLDC):c.2008G>C (p.Val670Leu) rs767864486
NM_000170.3(GLDC):c.2010G>A (p.Val670=) rs368248411
NM_000170.3(GLDC):c.2010G>C (p.Val670=) rs368248411
NM_000170.3(GLDC):c.2011G>C (p.Asp671His) rs2129734998
NM_000170.3(GLDC):c.2013T>G (p.Asp671Glu)
NM_000170.3(GLDC):c.2014A>T (p.Lys672Ter) rs1563836857
NM_000170.3(GLDC):c.2017T>C (p.Tyr673His)
NM_000170.3(GLDC):c.2017del (p.Tyr673fs)
NM_000170.3(GLDC):c.2019T>A (p.Tyr673Ter) rs774506115
NM_000170.3(GLDC):c.2020G>T (p.Gly674Trp) rs2129734932
NM_000170.3(GLDC):c.2025T>C (p.Asn675=)
NM_000170.3(GLDC):c.2029G>A (p.Asp677Asn)
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000170.3(GLDC):c.2034A>G (p.Ala678=)
NM_000170.3(GLDC):c.2041C>A (p.Leu681Ile) rs753457618
NM_000170.3(GLDC):c.2043C>G (p.Leu681=)
NM_000170.3(GLDC):c.2043C>T (p.Leu681=) rs72695507
NM_000170.3(GLDC):c.2045A>G (p.Lys682Arg) rs1305077560
NM_000170.3(GLDC):c.2047G>A (p.Ala683Thr) rs2129734759
NM_000170.3(GLDC):c.2049C>G (p.Ala683=)
NM_000170.3(GLDC):c.204C>A (p.Ile68=)
NM_000170.3(GLDC):c.204C>T (p.Ile68=) rs2130031955
NM_000170.3(GLDC):c.2052+10T>C
NM_000170.3(GLDC):c.2052+11_2052+13del
NM_000170.3(GLDC):c.2052+12C>G
NM_000170.3(GLDC):c.2052+13T>A
NM_000170.3(GLDC):c.2052+13T>C
NM_000170.3(GLDC):c.2052+16T>G rs1817682144
NM_000170.3(GLDC):c.2052+1G>A rs765906340
NM_000170.3(GLDC):c.2052+20C>T
NM_000170.3(GLDC):c.2052+4C>T
NM_000170.3(GLDC):c.2052+6T>C rs1421593264
NM_000170.3(GLDC):c.2052+8T>A rs2129734705
NM_000170.3(GLDC):c.2053-11T>C
NM_000170.3(GLDC):c.2053-15C>T
NM_000170.3(GLDC):c.2053-16C>A
NM_000170.3(GLDC):c.2053-17C>A
NM_000170.3(GLDC):c.2053-17C>T
NM_000170.3(GLDC):c.2053-18A>G
NM_000170.3(GLDC):c.2053-2A>C rs1323060528
NM_000170.3(GLDC):c.2053-2A>G
NM_000170.3(GLDC):c.2053-9C>A rs2129726722
NM_000170.3(GLDC):c.2053-9C>G
NM_000170.3(GLDC):c.2060A>T (p.Lys687Met) rs1010614777
NM_000170.3(GLDC):c.2061G>A (p.Lys687=) rs1817630045
NM_000170.3(GLDC):c.2063A>C (p.His688Pro) rs759659824
NM_000170.3(GLDC):c.2063A>G (p.His688Arg) rs759659824
NM_000170.3(GLDC):c.2074C>G (p.Leu692Val)
NM_000170.3(GLDC):c.2074C>T (p.Leu692=)
NM_000170.3(GLDC):c.2080G>C (p.Ala694Pro) rs386833538
NM_000170.3(GLDC):c.2081_2088del (p.Ala694fs) rs1196401015
NM_000170.3(GLDC):c.2085C>A (p.Ile695=) rs145547090
NM_000170.3(GLDC):c.2085C>G (p.Ile695Met)
NM_000170.3(GLDC):c.2085C>T (p.Ile695=) rs145547090
NM_000170.3(GLDC):c.2086A>G (p.Met696Val)
NM_000170.3(GLDC):c.2086A>T (p.Met696Leu) rs371447782
NM_000170.3(GLDC):c.2088G>A (p.Met696Ile)
NM_000170.3(GLDC):c.2090T>C (p.Ile697Thr)
NM_000170.3(GLDC):c.2091T>G (p.Ile697Met) rs2129726512
NM_000170.3(GLDC):c.2094A>C (p.Thr698=) rs779427031
NM_000170.3(GLDC):c.2094A>G (p.Thr698=)
NM_000170.3(GLDC):c.2097C>G (p.Tyr699Ter) rs149694787
NM_000170.3(GLDC):c.2098C>G (p.Pro700Ala) rs386833539
NM_000170.3(GLDC):c.209C>A (p.Pro70His) rs776730073
NM_000170.3(GLDC):c.209C>G (p.Pro70Arg) rs776730073
NM_000170.3(GLDC):c.209del (p.Pro70fs)
NM_000170.3(GLDC):c.20C>T (p.Ala7Val) rs1420734296
NM_000170.3(GLDC):c.2105C>T (p.Thr702Ile) rs386833540
NM_000170.3(GLDC):c.2109T>C (p.Asn703=)
NM_000170.3(GLDC):c.210T>C (p.Pro70=) rs1170354400
NM_000170.3(GLDC):c.2112G>A (p.Gly704=) rs1817628881
NM_000170.3(GLDC):c.2113del (p.Val705fs) rs2129726392
NM_000170.3(GLDC):c.2115G>C (p.Val705=) rs765205689
NM_000170.3(GLDC):c.2118_2119del (p.Phe706fs)
NM_000170.3(GLDC):c.2121A>G (p.Glu707=)
NM_000170.3(GLDC):c.2124_2126dup (p.Glu708_Asn709insLys) rs1554643929
NM_000170.3(GLDC):c.2125A>G (p.Asn709Asp)
NM_000170.3(GLDC):c.2127C>T (p.Asn709=) rs753895623
NM_000170.3(GLDC):c.2134_2135insT (p.Asp712fs)
NM_000170.3(GLDC):c.2136C>G (p.Asp712Glu) rs762761551
NM_000170.3(GLDC):c.2136C>T (p.Asp712=) rs762761551
NM_000170.3(GLDC):c.2142T>C (p.Cys714=)
NM_000170.3(GLDC):c.2146C>T (p.Leu716Phe)
NM_000170.3(GLDC):c.2148C>T (p.Leu716=) rs367750112
NM_000170.3(GLDC):c.214G>C (p.Asp72His)
NM_000170.3(GLDC):c.214G>T (p.Asp72Tyr) rs1819720191
NM_000170.3(GLDC):c.2153_2155delinsTCCTGGTTTA (p.His718_Gln719delinsLeuLeuValTer) rs386833541
NM_000170.3(GLDC):c.2159A>G (p.His720Arg)
NM_000170.3(GLDC):c.2160T>C (p.His720=) rs758841885
NM_000170.3(GLDC):c.2161G>A (p.Gly721Arg) rs1587924821
NM_000170.3(GLDC):c.2162G>C (p.Gly721Ala) rs2129726062
NM_000170.3(GLDC):c.2163A>G (p.Gly721=) rs748569405
NM_000170.3(GLDC):c.2167C>G (p.Gln723Glu)
NM_000170.3(GLDC):c.2167C>T (p.Gln723Ter) rs779434645
NM_000170.3(GLDC):c.2172C>G (p.Val724=) rs753855821
NM_000170.3(GLDC):c.2175C>G (p.Tyr725Ter) rs147951756
NM_000170.3(GLDC):c.2176del (p.Tyr725_Leu726insTer) rs2129725961
NM_000170.3(GLDC):c.2179G>C (p.Asp727His) rs2129725947
NM_000170.3(GLDC):c.2182G>A (p.Gly728Arg) rs386833542
NM_000170.3(GLDC):c.2182G>C (p.Gly728Arg) rs386833542
NM_000170.3(GLDC):c.2183G>A (p.Gly728Glu)
NM_000170.3(GLDC):c.2186C>A (p.Ala729Glu)
NM_000170.3(GLDC):c.2187A>G (p.Ala729=)
NM_000170.3(GLDC):c.2189del (p.Asn730fs)
NM_000170.3(GLDC):c.2190T>A (p.Asn730Lys)
NM_000170.3(GLDC):c.2191A>G (p.Met731Val) rs545419197
NM_000170.3(GLDC):c.2196T>C (p.Asn732=) rs386833544
NM_000170.3(GLDC):c.2197G>A (p.Ala733Thr) rs2129725849
NM_000170.3(GLDC):c.2197G>T (p.Ala733Ser)
NM_000170.3(GLDC):c.2201A>G (p.Gln734Arg) rs1817625875
NM_000170.3(GLDC):c.2202+13G>C rs1288374750
NM_000170.3(GLDC):c.2202+16G>C
NM_000170.3(GLDC):c.2202+17C>G rs1014629026
NM_000170.3(GLDC):c.2202+17C>T
NM_000170.3(GLDC):c.2202+19C>A
NM_000170.3(GLDC):c.2202+7A>G
NM_000170.3(GLDC):c.2203-11C>A
NM_000170.3(GLDC):c.2203-11C>G
NM_000170.3(GLDC):c.2203-14T>C
NM_000170.3(GLDC):c.2203-16C>G
NM_000170.3(GLDC):c.2203-17C>T
NM_000170.3(GLDC):c.2203-18C>A
NM_000170.3(GLDC):c.2203-18C>G
NM_000170.3(GLDC):c.2203-18C>T
NM_000170.3(GLDC):c.2203-1G>A
NM_000170.3(GLDC):c.2203-20G>A rs1290189679
NM_000170.3(GLDC):c.2203-2A>G rs386833545
NM_000170.3(GLDC):c.2203-2A>T
NM_000170.3(GLDC):c.2203-4G>A rs2129720252
NM_000170.3(GLDC):c.2203-63C>G rs2274874
NM_000170.3(GLDC):c.2203-6T>C
NM_000170.3(GLDC):c.2203-8_2203-6dup
NM_000170.3(GLDC):c.2205G>A (p.Val735=)
NM_000170.3(GLDC):c.2211C>T (p.Ile737=) rs1587923448
NM_000170.3(GLDC):c.2212_2218del (p.Cys738fs)
NM_000170.3(GLDC):c.2213_2214del (p.Cys738fs) rs386833546
NM_000170.3(GLDC):c.2217C>T (p.Arg739=) rs757437950
NM_000170.3(GLDC):c.2218C>G (p.Pro740Ala)
NM_000170.3(GLDC):c.2219C>G (p.Pro740Arg)
NM_000170.3(GLDC):c.2225_2232del (p.Asp742fs) rs1817584930
NM_000170.3(GLDC):c.2232G>A (p.Gly744=)
NM_000170.3(GLDC):c.2232G>T (p.Gly744=)
NM_000170.3(GLDC):c.2234C>G (p.Ser745Cys) rs1398537221
NM_000170.3(GLDC):c.2236G>A (p.Asp746Asn)
NM_000170.3(GLDC):c.2236G>C (p.Asp746His)
NM_000170.3(GLDC):c.2238T>A (p.Asp746Glu) rs749882600
NM_000170.3(GLDC):c.2238T>C (p.Asp746=)
NM_000170.3(GLDC):c.2240T>A (p.Val747Asp) rs1563835004
NM_000170.3(GLDC):c.2241C>G (p.Val747=) rs375733985
NM_000170.3(GLDC):c.2247C>T (p.His749=)
NM_000170.3(GLDC):c.224A>G (p.Gln75Arg) rs1819719916
NM_000170.3(GLDC):c.2256T>C (p.Leu752=) rs1587923380
NM_000170.3(GLDC):c.2258A>C (p.His753Pro) rs386833547
NM_000170.3(GLDC):c.2259C>G (p.His753Gln) rs2129719894
NM_000170.3(GLDC):c.2259C>T (p.His753=)
NM_000170.3(GLDC):c.225G>A (p.Gln75=)
NM_000170.3(GLDC):c.2267_2269del (p.Phe756del) rs121964975
NM_000170.3(GLDC):c.226A>C (p.Arg76=) rs2130031859
NM_000170.3(GLDC):c.2276C>G (p.Pro759Arg)
NM_000170.3(GLDC):c.2277C>A (p.Pro759=)
NM_000170.3(GLDC):c.2277C>T (p.Pro759=) rs970388208
NM_000170.3(GLDC):c.2278dup (p.His760fs) rs1563834980
NM_000170.3(GLDC):c.2279A>T (p.His760Leu) rs1817583687
NM_000170.3(GLDC):c.2281G>C (p.Gly761Arg) rs386833549
NM_000170.3(GLDC):c.2283A>G (p.Gly761=) rs1554643744
NM_000170.3(GLDC):c.2284G>A (p.Gly762Arg) rs386833550
NM_000170.3(GLDC):c.2286A>G (p.Gly762=) rs2129719766
NM_000170.3(GLDC):c.2287G>T (p.Gly763Cys)
NM_000170.3(GLDC):c.2288G>A (p.Gly763Asp) rs1374110692
NM_000170.3(GLDC):c.2292T>C (p.Gly764=) rs2129719724
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000170.3(GLDC):c.2295T>C (p.Pro765=) rs1817583288
NM_000170.3(GLDC):c.2297G>T (p.Gly766Val) rs750384225
NM_000170.3(GLDC):c.2298C>T (p.Gly766=) rs1031003330
NM_000170.3(GLDC):c.2303G>C (p.Gly768Ala) rs2129719653
NM_000170.3(GLDC):c.2304G>C (p.Gly768=)
NM_000170.3(GLDC):c.2304G>T (p.Gly768=) rs533775952
NM_000170.3(GLDC):c.2305C>G (p.Pro769Ala)
NM_000170.3(GLDC):c.2306C>T (p.Pro769Leu) rs386833552
NM_000170.3(GLDC):c.2307C>A (p.Pro769=) rs565834029
NM_000170.3(GLDC):c.2310C>A (p.Ile770=) rs765661419
NM_000170.3(GLDC):c.2310C>T (p.Ile770=) rs765661419
NM_000170.3(GLDC):c.2310del (p.Ile770fs) rs2129719586
NM_000170.3(GLDC):c.2312G>C (p.Gly771Ala) rs760077981
NM_000170.3(GLDC):c.2315+10G>A
NM_000170.3(GLDC):c.2315+13C>A
NM_000170.3(GLDC):c.2315+16C>T
NM_000170.3(GLDC):c.2315+19G>C
NM_000170.3(GLDC):c.2315+20T>C rs1212346753
NM_000170.3(GLDC):c.2315+2T>A rs1554643738
NM_000170.3(GLDC):c.2315+2T>G rs1554643738
NM_000170.3(GLDC):c.2315+6T>C rs1817582202
NM_000170.3(GLDC):c.2316-13_2316-12dup rs3215923
NM_000170.3(GLDC):c.2316-18C>T rs1330113346
NM_000170.3(GLDC):c.2316-5dup
NM_000170.3(GLDC):c.2316-6del rs3215923
NM_000170.3(GLDC):c.2316-6dup rs3215923
NM_000170.3(GLDC):c.231G>C (p.Glu77Asp)
NM_000170.3(GLDC):c.2323C>T (p.His775Tyr) rs1554643619
NM_000170.3(GLDC):c.2329G>A (p.Ala777Thr)
NM_000170.3(GLDC):c.2329G>T (p.Ala777Ser)
NM_000170.3(GLDC):c.2331C>T (p.Ala777=)
NM_000170.3(GLDC):c.2333C>G (p.Pro778Arg) rs754670348
NM_000170.3(GLDC):c.2333C>T (p.Pro778Leu) rs754670348
NM_000170.3(GLDC):c.2334G>C (p.Pro778=) rs191795314
NM_000170.3(GLDC):c.2335T>C (p.Phe779Leu) rs1817557171
NM_000170.3(GLDC):c.233T>C (p.Met78Thr) rs2130031822
NM_000170.3(GLDC):c.2345A>G (p.Asn782Ser)
NM_000170.3(GLDC):c.234G>C (p.Met78Ile) rs1282813808
NM_000170.3(GLDC):c.2352C>G (p.Pro784=) rs367781728
NM_000170.3(GLDC):c.2353G>A (p.Val785Ile) rs372101832
NM_000170.3(GLDC):c.2355C>T (p.Val785=) rs2129715094
NM_000170.3(GLDC):c.2356A>G (p.Ile786Val)
NM_000170.3(GLDC):c.2361A>C (p.Ser787=) rs2129715080
NM_000170.3(GLDC):c.2361A>G (p.Ser787=)
NM_000170.3(GLDC):c.2364A>G (p.Leu788=) rs992373079
NM_000170.3(GLDC):c.2366del (p.Lys789fs)
NM_000170.3(GLDC):c.236T>C (p.Leu79Pro) rs2130031802
NM_000170.3(GLDC):c.2373T>C (p.Asn791=) rs923929584
NM_000170.3(GLDC):c.2376G>A (p.Glu792=) rs2129715013
NM_000170.3(GLDC):c.2377G>A (p.Asp793Asn) rs776288649
NM_000170.3(GLDC):c.2380_2399del (p.Ala794fs) rs1817555980
NM_000170.3(GLDC):c.2381C>G (p.Ala794Gly) rs1817556275
NM_000170.3(GLDC):c.2383T>A (p.Cys795Ser) rs567167527
NM_000170.3(GLDC):c.2384G>C (p.Cys795Ser)
NM_000170.3(GLDC):c.238C>T (p.Gln80Ter)
NM_000170.3(GLDC):c.2390T>G (p.Val797Gly)
NM_000170.3(GLDC):c.2396C>G (p.Thr799Ser)
NM_000170.3(GLDC):c.2396C>T (p.Thr799Ile) rs772015252
NM_000170.3(GLDC):c.2397C>A (p.Thr799=) rs778396953
NM_000170.3(GLDC):c.23G>A (p.Trp8Ter) rs1477860542
NM_000170.3(GLDC):c.2402G>A (p.Ser801Asn) rs1817555894
NM_000170.3(GLDC):c.2407_2408delinsTT (p.Ala803Phe)
NM_000170.3(GLDC):c.2409C>A (p.Ala803=) rs1554643608
NM_000170.3(GLDC):c.2409C>T (p.Ala803=) rs1554643608
NM_000170.3(GLDC):c.2410C>T (p.Pro804Ser) rs2129714808
NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter) rs386833557
NM_000170.3(GLDC):c.2422del (p.Ser808fs) rs386833558
NM_000170.3(GLDC):c.2423_2426dup (p.Ile810fs) rs755313904
NM_000170.3(GLDC):c.2424T>C (p.Ser808=)
NM_000170.3(GLDC):c.2427C>T (p.Ser809=) rs2129714696
NM_000170.3(GLDC):c.2430C>T (p.Ile810=) rs2129714681
NM_000170.3(GLDC):c.2431T>C (p.Leu811=)
NM_000170.3(GLDC):c.2431T>G (p.Leu811Val) rs2129714675
NM_000170.3(GLDC):c.2436C>G (p.Pro812=) rs2129714654
NM_000170.3(GLDC):c.2436C>T (p.Pro812=)
NM_000170.3(GLDC):c.243C>T (p.Thr81=)
NM_000170.3(GLDC):c.2445G>A (p.Trp815Ter) rs2129714616
NM_000170.3(GLDC):c.2447C>T (p.Ala816Val) rs2129714588
NM_000170.3(GLDC):c.2451T>C (p.Tyr817=) rs766061438
NM_000170.3(GLDC):c.2454C>T (p.Ile818=) rs1817554747
NM_000170.3(GLDC):c.2455A>G (p.Lys819Glu) rs1587922096
NM_000170.3(GLDC):c.2457+11G>C rs2129714505
NM_000170.3(GLDC):c.2457+12G>A
NM_000170.3(GLDC):c.2457+14G>A
NM_000170.3(GLDC):c.2457+14G>C
NM_000170.3(GLDC):c.2457+14G>T
NM_000170.3(GLDC):c.2457+15T>G
NM_000170.3(GLDC):c.2457+16A>G
NM_000170.3(GLDC):c.2457+20G>T
NM_000170.3(GLDC):c.2457+8C>G rs147308839
NM_000170.3(GLDC):c.2458-11C>G
NM_000170.3(GLDC):c.2458-12C>G
NM_000170.3(GLDC):c.2458-15T>G
NM_000170.3(GLDC):c.2458-18T>G
NM_000170.3(GLDC):c.2458-1G>T rs1554643370
NM_000170.3(GLDC):c.2458-20T>C
NM_000170.3(GLDC):c.2458-26_2458-10dup rs2129705813
NM_000170.3(GLDC):c.2458-2A>G rs1259354298
NM_000170.3(GLDC):c.2458-4G>A rs2129705803
NM_000170.3(GLDC):c.2458-4G>T rs2129705803
NM_000170.3(GLDC):c.2458-7G>A rs2129705811
NM_000170.3(GLDC):c.2458-7G>C
NM_000170.3(GLDC):c.2458A>G (p.Met820Val) rs781682244
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser) rs386833559
NM_000170.3(GLDC):c.245T>G (p.Leu82Trp) rs386833559
NM_000170.3(GLDC):c.2461A>T (p.Met821Leu)
NM_000170.3(GLDC):c.2466A>G (p.Gly822=)
NM_000170.3(GLDC):c.2468G>A (p.Gly823Asp)
NM_000170.3(GLDC):c.2470A>T (p.Lys824Ter) rs1447727878
NM_000170.3(GLDC):c.2475T>A (p.Gly825=)
NM_000170.3(GLDC):c.247G>C (p.Gly83Arg) rs946962875
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs) rs766762760
NM_000170.3(GLDC):c.2482C>T (p.Gln828Ter) rs1209943477
NM_000170.3(GLDC):c.2485G>A (p.Ala829Thr)
NM_000170.3(GLDC):c.2490G>A (p.Thr830=) rs145407593
NM_000170.3(GLDC):c.2490G>C (p.Thr830=)
NM_000170.3(GLDC):c.2490G>T (p.Thr830=) rs145407593
NM_000170.3(GLDC):c.2496T>G (p.Thr832=)
NM_000170.3(GLDC):c.2499G>T (p.Ala833=)
NM_000170.3(GLDC):c.249G>C (p.Gly83=) rs12341698
NM_000170.3(GLDC):c.24G>A (p.Trp8Ter) rs1163356968
NM_000170.3(GLDC):c.2501T>C (p.Ile834Thr)
NM_000170.3(GLDC):c.2502A>G (p.Ile834Met)
NM_000170.3(GLDC):c.2503T>C (p.Leu835=)
NM_000170.3(GLDC):c.2508T>C (p.Asn836=) rs2129705484
NM_000170.3(GLDC):c.2509G>T (p.Ala837Ser)
NM_000170.3(GLDC):c.2511C>G (p.Ala837=) rs2129705466
NM_000170.3(GLDC):c.2512A>C (p.Asn838His) rs1817498068
NM_000170.3(GLDC):c.2516A>G (p.Tyr839Cys)
NM_000170.3(GLDC):c.2517C>A (p.Tyr839Ter) rs1817497939
NM_000170.3(GLDC):c.2517C>T (p.Tyr839=) rs1817497939
NM_000170.3(GLDC):c.2519T>A (p.Met840Lys) rs386833561
NM_000170.3(GLDC):c.251del (p.Leu84fs) rs2130031690
NM_000170.3(GLDC):c.2521G>C (p.Ala841Pro) rs386833562
NM_000170.3(GLDC):c.2523C>A (p.Ala841=) rs762805307
NM_000170.3(GLDC):c.2523C>G (p.Ala841=) rs762805307
NM_000170.3(GLDC):c.2526G>A (p.Lys842=) rs548033815
NM_000170.3(GLDC):c.2526G>C (p.Lys842Asn) rs548033815
NM_000170.3(GLDC):c.2527C>A (p.Arg843=) rs1554643360
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter) rs1554643360
NM_000170.3(GLDC):c.2528G>A (p.Arg843Gln) rs1422108790
NM_000170.3(GLDC):c.252G>A (p.Leu84=) rs1314463455
NM_000170.3(GLDC):c.2531T>G (p.Leu844Ter) rs770743220
NM_000170.3(GLDC):c.2535A>G (p.Glu845=) rs2129705267
NM_000170.3(GLDC):c.2537C>A (p.Thr846Lys)
NM_000170.3(GLDC):c.2537C>T (p.Thr846Ile) rs747336541
NM_000170.3(GLDC):c.2541C>T (p.His847=)
NM_000170.3(GLDC):c.2544C>G (p.Tyr848Ter) rs1554643354
NM_000170.3(GLDC):c.2544C>T (p.Tyr848=)
NM_000170.3(GLDC):c.255+11C>T
NM_000170.3(GLDC):c.255+12C>A
NM_000170.3(GLDC):c.255+12C>T
NM_000170.3(GLDC):c.255+15C>A
NM_000170.3(GLDC):c.255+16C>G
NM_000170.3(GLDC):c.255+16C>T rs1819718277
NM_000170.3(GLDC):c.255+17G>C
NM_000170.3(GLDC):c.255+18G>A
NM_000170.3(GLDC):c.255+19C>T
NM_000170.3(GLDC):c.255+1G>A rs386833563
NM_000170.3(GLDC):c.255+3A>T rs1417674040
NM_000170.3(GLDC):c.255+7A>G
NM_000170.3(GLDC):c.255+8C>A
NM_000170.3(GLDC):c.255+9C>A
NM_000170.3(GLDC):c.255+9C>G
NM_000170.3(GLDC):c.255+9C>T rs2130031617
NM_000170.3(GLDC):c.2550T>A (p.Ile850=)
NM_000170.3(GLDC):c.2552T>G (p.Leu851Arg) rs753948580
NM_000170.3(GLDC):c.256-13G>A
NM_000170.3(GLDC):c.256-18C>G
NM_000170.3(GLDC):c.256-19C>T
NM_000170.3(GLDC):c.256-20G>T
NM_000170.3(GLDC):c.256-2A>G
NM_000170.3(GLDC):c.256-4T>A
NM_000170.3(GLDC):c.256-9T>C rs747777485
NM_000170.3(GLDC):c.2561G>A (p.Gly854Asp) rs1271552143
NM_000170.3(GLDC):c.2562T>A (p.Gly854=) rs756304498
NM_000170.3(GLDC):c.2563G>A (p.Ala855Thr)
NM_000170.3(GLDC):c.2564C>T (p.Ala855Val) rs764251972
NM_000170.3(GLDC):c.2567G>C (p.Arg856Thr)
NM_000170.3(GLDC):c.2569+12C>G
NM_000170.3(GLDC):c.2569+13T>A
NM_000170.3(GLDC):c.2569+14T>G
NM_000170.3(GLDC):c.2569+16A>T
NM_000170.3(GLDC):c.2569+17A>T
NM_000170.3(GLDC):c.2569+18T>C
NM_000170.3(GLDC):c.2569+20T>C
NM_000170.3(GLDC):c.2569+69C>A rs34948145
NM_000170.3(GLDC):c.2569+7A>G
NM_000170.3(GLDC):c.2569+8T>G rs894742250
NM_000170.3(GLDC):c.2569+9C>A
NM_000170.3(GLDC):c.2570-10T>A
NM_000170.3(GLDC):c.2570-14A>G
NM_000170.3(GLDC):c.2570-20G>T
NM_000170.3(GLDC):c.2570-2A>G
NM_000170.3(GLDC):c.2570-4A>G
NM_000170.3(GLDC):c.2570-8C>T
NM_000170.3(GLDC):c.2573A>C (p.Tyr858Ser)
NM_000170.3(GLDC):c.2574T>C (p.Tyr858=)
NM_000170.3(GLDC):c.2574T>G (p.Tyr858Ter) rs386833564
NM_000170.3(GLDC):c.2575G>T (p.Val859Leu) rs1817224485
NM_000170.3(GLDC):c.2576T>A (p.Val859Glu) rs2129663404
NM_000170.3(GLDC):c.2577G>A (p.Val859=) rs935896982
NM_000170.3(GLDC):c.2577G>C (p.Val859=) rs935896982
NM_000170.3(GLDC):c.2577G>T (p.Val859=) rs935896982
NM_000170.3(GLDC):c.2578G>C (p.Gly860Arg) rs753759723
NM_000170.3(GLDC):c.2579G>T (p.Gly860Val) rs2129663355
NM_000170.3(GLDC):c.2583T>C (p.His861=)
NM_000170.3(GLDC):c.2584G>A (p.Glu862Lys) rs925908885
NM_000170.3(GLDC):c.2593T>A (p.Leu865Met) rs375375700
NM_000170.3(GLDC):c.2593T>C (p.Leu865=) rs375375700
NM_000170.3(GLDC):c.2594del (p.Leu865fs)
NM_000170.3(GLDC):c.2596G>C (p.Asp866His) rs2129663304
NM_000170.3(GLDC):c.2597A>G (p.Asp866Gly) rs1817224032
NM_000170.3(GLDC):c.2598C>T (p.Asp866=)
NM_000170.3(GLDC):c.2601G>C (p.Thr867=)
NM_000170.3(GLDC):c.2601G>T (p.Thr867=)
NM_000170.3(GLDC):c.2603G>C (p.Arg868Thr) rs1376198157
NM_000170.3(GLDC):c.2607C>G (p.Pro869=)
NM_000170.3(GLDC):c.260T>C (p.Ile87Thr) rs561846684
NM_000170.3(GLDC):c.2610C>T (p.Phe870=)
NM_000170.3(GLDC):c.2616G>C (p.Lys872Asn) rs778913771
NM_000170.3(GLDC):c.2625T>G (p.Asn875Lys)
NM_000170.3(GLDC):c.2629G>T (p.Glu877Ter) rs765893483
NM_000170.3(GLDC):c.2631_2639del (p.Glu877_Val879del) rs1554642294
NM_000170.3(GLDC):c.2633C>T (p.Ala878Val) rs2129663100
NM_000170.3(GLDC):c.2634T>C (p.Ala878=)
NM_000170.3(GLDC):c.2637G>C (p.Val879=)
NM_000170.3(GLDC):c.2639A>T (p.Asp880Val) rs386833566
NM_000170.3(GLDC):c.263A>G (p.Asp88Gly)
NM_000170.3(GLDC):c.2643G>A (p.Val881=)
NM_000170.3(GLDC):c.2647A>C (p.Lys883Gln) rs2129663030
NM_000170.3(GLDC):c.2649G>C (p.Lys883Asn)
NM_000170.3(GLDC):c.264T>G (p.Asp88Glu)
NM_000170.3(GLDC):c.2650A>G (p.Arg884Gly) rs1057515606
NM_000170.3(GLDC):c.2654T>C (p.Leu885Pro)
NM_000170.3(GLDC):c.2655C>G (p.Leu885=) rs2129662984
NM_000170.3(GLDC):c.2656C>T (p.Gln886Ter) rs386833567
NM_000170.3(GLDC):c.2665+10T>C rs774684209
NM_000170.3(GLDC):c.2665+11T>A
NM_000170.3(GLDC):c.2665+15A>C
NM_000170.3(GLDC):c.2665+16C>T
NM_000170.3(GLDC):c.2665+1G>A rs149070244
NM_000170.3(GLDC):c.2665+1G>T
NM_000170.3(GLDC):c.2665+20C>A
NM_000170.3(GLDC):c.2665+20C>T
NM_000170.3(GLDC):c.2665+4A>C
NM_000170.3(GLDC):c.2665+8G>A rs761468673
NM_000170.3(GLDC):c.2665+9del rs1432943603
NM_000170.3(GLDC):c.2666-10C>G
NM_000170.3(GLDC):c.2666-10C>T
NM_000170.3(GLDC):c.2666-12C>G
NM_000170.3(GLDC):c.2666-1G>A rs1429861000
NM_000170.3(GLDC):c.2666-7T>G
NM_000170.3(GLDC):c.2666-8C>G
NM_000170.3(GLDC):c.2666-9C>T
NM_000170.3(GLDC):c.2674G>T (p.Ala892Ser)
NM_000170.3(GLDC):c.2677C>T (p.Pro893Ser) rs2129650066
NM_000170.3(GLDC):c.267A>G (p.Glu89=)
NM_000170.3(GLDC):c.2680del (p.Thr894fs)
NM_000170.3(GLDC):c.2682C>G (p.Thr894=) rs2129650044
NM_000170.3(GLDC):c.2688C>A (p.Ser896=) rs2129650009
NM_000170.3(GLDC):c.2688C>T (p.Ser896=)
NM_000170.3(GLDC):c.2690G>A (p.Trp897Ter)
NM_000170.3(GLDC):c.2690G>T (p.Trp897Leu)
NM_000170.3(GLDC):c.2691G>A (p.Trp897Ter) rs2129649998
NM_000170.3(GLDC):c.2694T>C (p.Pro898=) rs147762931
NM_000170.3(GLDC):c.2695G>A (p.Val899Met) rs2129649975
NM_000170.3(GLDC):c.26G>A (p.Gly9Glu)
NM_000170.3(GLDC):c.2703G>A (p.Gly901=)
NM_000170.3(GLDC):c.2703G>T (p.Gly901=)
NM_000170.3(GLDC):c.2706C>G (p.Thr902=) rs752943013
NM_000170.3(GLDC):c.2709C>T (p.Leu903=)
NM_000170.3(GLDC):c.2715G>A (p.Val905=)
NM_000170.3(GLDC):c.2720C>T (p.Pro907Leu) rs2129649871
NM_000170.3(GLDC):c.2723C>T (p.Thr908Ile)
NM_000170.3(GLDC):c.2724T>C (p.Thr908=)
NM_000170.3(GLDC):c.2725G>T (p.Glu909Ter) rs1817123754
NM_000170.3(GLDC):c.2727G>A (p.Glu909=) rs2129649835
NM_000170.3(GLDC):c.2729C>A (p.Ser910Ter) rs759933539
NM_000170.3(GLDC):c.2729C>T (p.Ser910Leu) rs759933539
NM_000170.3(GLDC):c.2733G>A (p.Glu911=) rs1397333445
NM_000170.3(GLDC):c.2736C>G (p.Asp912Glu)
NM_000170.3(GLDC):c.2742A>G (p.Ala914=) rs374022098
NM_000170.3(GLDC):c.2743G>T (p.Glu915Ter)
NM_000170.3(GLDC):c.2746C>G (p.Leu916Val)
NM_000170.3(GLDC):c.2746C>T (p.Leu916=) rs773430894
NM_000170.3(GLDC):c.2755T>A (p.Phe919Ile) rs1817122724
NM_000170.3(GLDC):c.2755T>G (p.Phe919Val) rs1817122724
NM_000170.3(GLDC):c.2760T>C (p.Cys920=)
NM_000170.3(GLDC):c.2763T>C (p.Asp921=) rs2129649657
NM_000170.3(GLDC):c.2768T>C (p.Met923Thr) rs2129649642
NM_000170.3(GLDC):c.2770_2774del (p.Ile924fs)
NM_000170.3(GLDC):c.2776A>G (p.Ile926Val)
NM_000170.3(GLDC):c.2778del (p.Arg927fs)
NM_000170.3(GLDC):c.2779C>T (p.Arg927Trp)
NM_000170.3(GLDC):c.2780G>A (p.Arg927Gln) rs934940369
NM_000170.3(GLDC):c.2781G>T (p.Arg927=)
NM_000170.3(GLDC):c.2782C>T (p.Gln928Ter)
NM_000170.3(GLDC):c.2783A>G (p.Gln928Arg)
NM_000170.3(GLDC):c.2785G>A (p.Glu929Lys)
NM_000170.3(GLDC):c.2790T>C (p.Ile930=)
NM_000170.3(GLDC):c.2791del (p.Ala931fs)
NM_000170.3(GLDC):c.2798T>A (p.Ile933Asn) rs758029533
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr) rs758029533
NM_000170.3(GLDC):c.27G>A (p.Gly9=)
NM_000170.3(GLDC):c.2800G>T (p.Glu934Ter) rs1817121202
NM_000170.3(GLDC):c.2802G>T (p.Glu934Asp)
NM_000170.3(GLDC):c.2805G>A (p.Glu935=)
NM_000170.3(GLDC):c.2806G>A (p.Gly936Ser)
NM_000170.3(GLDC):c.2808C>T (p.Gly936=)
NM_000170.3(GLDC):c.2811C>T (p.Arg937=) rs2129649432
NM_000170.3(GLDC):c.2815G>A (p.Asp939Asn)
NM_000170.3(GLDC):c.2819C>A (p.Pro940His) rs2129649391
NM_000170.3(GLDC):c.2821A>C (p.Arg941=) rs1587909520
NM_000170.3(GLDC):c.2824del (p.Val942fs) rs2129649366
NM_000170.3(GLDC):c.282G>C (p.Thr94=) rs769003941
NM_000170.3(GLDC):c.2835G>T (p.Leu945=)
NM_000170.3(GLDC):c.2838+10C>T rs1587909491
NM_000170.3(GLDC):c.2838+11C>A
NM_000170.3(GLDC):c.2838+12C>G
NM_000170.3(GLDC):c.2838+14G>C
NM_000170.3(GLDC):c.2838+14G>T
NM_000170.3(GLDC):c.2838+16A>C
NM_000170.3(GLDC):c.2838+19A>G
NM_000170.3(GLDC):c.2838+1G>A rs542056100
NM_000170.3(GLDC):c.2838+2T>C rs1554641887
NM_000170.3(GLDC):c.2838+4C>T rs200680938
NM_000170.3(GLDC):c.2838+5G>A rs386833568
NM_000170.3(GLDC):c.2838+5G>T
NM_000170.3(GLDC):c.2838+8G>C
NM_000170.3(GLDC):c.2838+8G>T rs1353016990
NM_000170.3(GLDC):c.2839-10T>C rs750768090
NM_000170.3(GLDC):c.2839-12T>C
NM_000170.3(GLDC):c.2839-13G>T
NM_000170.3(GLDC):c.2839-13_2839-12del
NM_000170.3(GLDC):c.2839-19G>C
NM_000170.3(GLDC):c.2839-1G>C rs386833569
NM_000170.3(GLDC):c.2839-3C>T rs1252272018
NM_000170.3(GLDC):c.2839-4T>C rs2129645533
NM_000170.3(GLDC):c.2839-4T>G
NM_000170.3(GLDC):c.2839-5C>T
NM_000170.3(GLDC):c.2839-6T>C
NM_000170.3(GLDC):c.2839-7G>C
NM_000170.3(GLDC):c.2839-9C>G
NM_000170.3(GLDC):c.2841G>A (p.Met947Ile) rs1214310966
NM_000170.3(GLDC):c.2841dup (p.Ser948fs)
NM_000170.3(GLDC):c.2843C>G (p.Ser948Cys) rs1817084329
NM_000170.3(GLDC):c.2844T>C (p.Ser948=) rs1817084254
NM_000170.3(GLDC):c.2844T>G (p.Ser948=) rs1817084254
NM_000170.3(GLDC):c.2846C>T (p.Pro949Leu) rs386833570
NM_000170.3(GLDC):c.2853C>A (p.Ser951=) rs1365662392
NM_000170.3(GLDC):c.2853C>T (p.Ser951=)
NM_000170.3(GLDC):c.2859C>G (p.Thr953=) rs1817083513
NM_000170.3(GLDC):c.2868A>C (p.Thr956=)
NM_000170.3(GLDC):c.2868A>G (p.Thr956=)
NM_000170.3(GLDC):c.2868A>T (p.Thr956=)
NM_000170.3(GLDC):c.286C>T (p.Pro96Ser)
NM_000170.3(GLDC):c.2870_2909del (p.Ser957fs) rs2129645235
NM_000170.3(GLDC):c.2874C>A (p.Ser958=)
NM_000170.3(GLDC):c.2874C>G (p.Ser958=)
NM_000170.3(GLDC):c.2876A>C (p.His959Pro)
NM_000170.3(GLDC):c.2876A>G (p.His959Arg) rs572523552
NM_000170.3(GLDC):c.2876_2877del (p.His959fs) rs2129645358
NM_000170.3(GLDC):c.2877C>T (p.His959=)
NM_000170.3(GLDC):c.2884C>T (p.Arg962Trp) rs1172061571
NM_000170.3(GLDC):c.2885G>C (p.Arg962Pro)
NM_000170.3(GLDC):c.2886G>A (p.Arg962=)
NM_000170.3(GLDC):c.2888dup (p.Tyr964fs) rs1554641737
NM_000170.3(GLDC):c.2890T>C (p.Tyr964His)
NM_000170.3(GLDC):c.2896A>G (p.Arg966Gly) rs386833573
NM_000170.3(GLDC):c.289G>A (p.Ala97Thr) rs1587989978
NM_000170.3(GLDC):c.28C>T (p.Leu10=)
NM_000170.3(GLDC):c.28del (p.Leu10fs) rs386833574
NM_000170.3(GLDC):c.2900A>G (p.Glu967Gly)
NM_000170.3(GLDC):c.2901G>C (p.Glu967Asp) rs1587908683
NM_000170.3(GLDC):c.2904G>A (p.Val968=)
NM_000170.3(GLDC):c.2907A>C (p.Ala969=)
NM_000170.3(GLDC):c.2907A>G (p.Ala969=)
NM_000170.3(GLDC):c.2916A>T (p.Pro972=)
NM_000170.3(GLDC):c.2919+12G>T
NM_000170.3(GLDC):c.2919+16C>G
NM_000170.3(GLDC):c.2919+16C>T rs775233747
NM_000170.3(GLDC):c.2919+18G>A
NM_000170.3(GLDC):c.2919+18G>C
NM_000170.3(GLDC):c.2919+1G>C rs386833575
NM_000170.3(GLDC):c.2919+2dup rs2129645182
NM_000170.3(GLDC):c.2919+5G>T rs768091555
NM_000170.3(GLDC):c.2919+7del
NM_000170.3(GLDC):c.2919+9T>C
NM_000170.3(GLDC):c.2919C>G (p.Leu973=) rs113736090
NM_000170.3(GLDC):c.291del (p.Asn98fs) rs2130029354
NM_000170.3(GLDC):c.2920-14T>G
NM_000170.3(GLDC):c.2920-16C>A
NM_000170.3(GLDC):c.2920-18A>G
NM_000170.3(GLDC):c.2920-1G>C rs1474611877
NM_000170.3(GLDC):c.2920-4G>A
NM_000170.3(GLDC):c.2920-8C>G rs138786708
NM_000170.3(GLDC):c.2920C>T (p.Pro974Ser) rs949553434
NM_000170.3(GLDC):c.2922C>G (p.Pro974=)
NM_000170.3(GLDC):c.2922C>T (p.Pro974=) rs2129641379
NM_000170.3(GLDC):c.2928G>A (p.Val976=)
NM_000170.3(GLDC):c.2930A>C (p.Lys977Thr) rs2129641363
NM_000170.3(GLDC):c.2937G>C (p.Glu979Asp) rs1271866161
NM_000170.3(GLDC):c.2940C>T (p.Asn980=)
NM_000170.3(GLDC):c.2943A>G (p.Lys981=)
NM_000170.3(GLDC):c.2946C>T (p.Phe982=) rs1270215089
NM_000170.3(GLDC):c.2947T>C (p.Trp983Arg) rs1057515605
NM_000170.3(GLDC):c.2948G>A (p.Trp983Ter) rs1554641519
NM_000170.3(GLDC):c.294C>A (p.Asn98Lys) rs1819702080
NM_000170.3(GLDC):c.294C>T (p.Asn98=) rs1819702080
NM_000170.3(GLDC):c.2954C>T (p.Thr985Met)
NM_000170.3(GLDC):c.2956A>T (p.Ile986Phe)
NM_000170.3(GLDC):c.2957T>C (p.Ile986Thr) rs1817036068
NM_000170.3(GLDC):c.2962C>A (p.Arg988=)
NM_000170.3(GLDC):c.2962C>T (p.Arg988Trp) rs1288008254
NM_000170.3(GLDC):c.2964G>C (p.Arg988=) rs146045718
NM_000170.3(GLDC):c.2965A>G (p.Ile989Val)
NM_000170.3(GLDC):c.2970T>C (p.Asp990=) rs764054067
NM_000170.3(GLDC):c.2970T>G (p.Asp990Glu)
NM_000170.3(GLDC):c.2973C>T (p.Asp991=)
NM_000170.3(GLDC):c.2978A>G (p.Tyr993Cys)
NM_000170.3(GLDC):c.2978_2979del (p.Tyr993fs)
NM_000170.3(GLDC):c.2978dup (p.Tyr993Ter)
NM_000170.3(GLDC):c.2982A>C (p.Gly994=)
NM_000170.3(GLDC):c.2982A>G (p.Gly994=)
NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn) rs1554641505
NM_000170.3(GLDC):c.2983G>T (p.Asp995Tyr) rs1554641505
NM_000170.3(GLDC):c.2985T>C (p.Asp995=)
NM_000170.3(GLDC):c.2986C>T (p.Gln996Ter) rs1296191006
NM_000170.3(GLDC):c.2988G>A (p.Gln996=) rs138640017
NM_000170.3(GLDC):c.2990A>G (p.His997Arg) rs2129641211
NM_000170.3(GLDC):c.2991C>A (p.His997Gln) rs757398632
NM_000170.3(GLDC):c.2991C>G (p.His997Gln) rs757398632
NM_000170.3(GLDC):c.2991C>T (p.His997=) rs757398632
NM_000170.3(GLDC):c.2992C>T (p.Leu998=)
NM_000170.3(GLDC):c.2993T>G (p.Leu998Arg) rs1817035007
NM_000170.3(GLDC):c.2995G>A (p.Val999Ile) rs2129641188
NM_000170.3(GLDC):c.2997T>C (p.Val999=)
NM_000170.3(GLDC):c.2997T>G (p.Val999=)
NM_000170.3(GLDC):c.2T>A (p.Met1Lys) rs121964978
NM_000170.3(GLDC):c.2T>C (p.Met1Thr) rs121964978
NM_000170.3(GLDC):c.3000T>C (p.Cys1000=)
NM_000170.3(GLDC):c.3007C>T (p.Pro1003Ser)
NM_000170.3(GLDC):c.3009A>T (p.Pro1003=)
NM_000170.3(GLDC):c.3018A>G (p.Glu1006=) rs1179382589
NM_000170.3(GLDC):c.3019G>A (p.Val1007Ile) rs112299567
NM_000170.3(GLDC):c.3019G>T (p.Val1007Phe) rs112299567
NM_000170.3(GLDC):c.302T>A (p.Leu101Ter) rs1819702000
NM_000170.3(GLDC):c.3039T>C (p.Ser1013=) rs2129641096
NM_000170.3(GLDC):c.3040G>T (p.Glu1014Ter) rs1444245039
NM_000170.3(GLDC):c.3045A>T (p.Gln1015His) rs2129641086
NM_000170.3(GLDC):c.3050G>A (p.Arg1017Lys) rs1294726700
NM_000170.3(GLDC):c.3050G>T (p.Arg1017Met) rs1294726700
NM_000170.3(GLDC):c.3053C>T (p.Ala1018Val)
NM_000170.3(GLDC):c.3057T>A (p.Ser1019=) rs2129641056
NM_000170.3(GLDC):c.3061del (p.Ter1021SerextTer?)
NM_000170.3(GLDC):c.307A>C (p.Arg103=) rs781076791
NM_000170.3(GLDC):c.307dup (p.Arg103fs) rs2130029302
NM_000170.3(GLDC):c.309A>G (p.Arg103=)
NM_000170.3(GLDC):c.312C>G (p.Pro104=) rs764472892
NM_000170.3(GLDC):c.312C>T (p.Pro104=)
NM_000170.3(GLDC):c.313T>C (p.Leu105=)
NM_000170.3(GLDC):c.315G>T (p.Leu105Phe)
NM_000170.3(GLDC):c.315_316del (p.Lys106fs)
NM_000170.3(GLDC):c.316A>G (p.Lys106Glu)
NM_000170.3(GLDC):c.319del (p.Met107fs)
NM_000170.3(GLDC):c.322G>T (p.Glu108Ter) rs2130029228
NM_000170.3(GLDC):c.331_332insCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGGAAGACCCTG (p.Val111delinsAlaGlyArgGlyGlySerArgLeuTer)
NM_000170.3(GLDC):c.334+10C>G
NM_000170.3(GLDC):c.334+11G>A
NM_000170.3(GLDC):c.334+12G>A
NM_000170.3(GLDC):c.334+13G>A rs749620185
NM_000170.3(GLDC):c.334+16_334+22del rs1819700494
NM_000170.3(GLDC):c.334+17G>T
NM_000170.3(GLDC):c.334+1G>C rs978795483
NM_000170.3(GLDC):c.334+1G>T rs978795483
NM_000170.3(GLDC):c.334+20C>G rs368832194
NM_000170.3(GLDC):c.334+20C>T rs368832194
NM_000170.3(GLDC):c.334+8G>A
NM_000170.3(GLDC):c.334+8G>C rs773212382
NM_000170.3(GLDC):c.334+9C>G rs771413015
NM_000170.3(GLDC):c.335-15T>G rs1819064204
NM_000170.3(GLDC):c.335-17C>G
NM_000170.3(GLDC):c.335-17_335-16del
NM_000170.3(GLDC):c.335-19C>T rs773889966
NM_000170.3(GLDC):c.335-1G>C rs1554649675
NM_000170.3(GLDC):c.335-20T>C
NM_000170.3(GLDC):c.335-6A>G
NM_000170.3(GLDC):c.335-8A>C rs770049528
NM_000170.3(GLDC):c.335-8A>G
NM_000170.3(GLDC):c.335G>A (p.Cys112Tyr)
NM_000170.3(GLDC):c.33C>A (p.Arg11=)
NM_000170.3(GLDC):c.34C>T (p.Leu12=) rs1819728398
NM_000170.3(GLDC):c.351T>C (p.Leu117=) rs2129949270
NM_000170.3(GLDC):c.356_362del (p.Thr119fs)
NM_000170.3(GLDC):c.357_358insTAAACT (p.Leu120Ter) rs2129949245
NM_000170.3(GLDC):c.358C>G (p.Leu120Val) rs758562313
NM_000170.3(GLDC):c.35T>C (p.Leu12Pro) rs1819728347
NM_000170.3(GLDC):c.360G>C (p.Leu120=)
NM_000170.3(GLDC):c.360G>T (p.Leu120=)
NM_000170.3(GLDC):c.362A>G (p.His121Arg)
NM_000170.3(GLDC):c.365C>T (p.Ala122Val) rs748248885
NM_000170.3(GLDC):c.367A>G (p.Ile123Val)
NM_000170.3(GLDC):c.369T>C (p.Ile123=) rs2129949164
NM_000170.3(GLDC):c.36G>C (p.Leu12=) rs1476935488
NM_000170.3(GLDC):c.371C>T (p.Ser124Leu) rs1819062238
NM_000170.3(GLDC):c.372A>G (p.Ser124=)
NM_000170.3(GLDC):c.381C>G (p.Asn127Lys) rs767326222
NM_000170.3(GLDC):c.381C>T (p.Asn127=) rs767326222
NM_000170.3(GLDC):c.383A>G (p.Gln128Arg) rs1819061825
NM_000170.3(GLDC):c.384G>C (p.Gln128His) rs2129949115
NM_000170.3(GLDC):c.384G>T (p.Gln128His)
NM_000170.3(GLDC):c.391A>C (p.Arg131=)
NM_000170.3(GLDC):c.391A>T (p.Arg131Ter)
NM_000170.3(GLDC):c.393A>G (p.Arg131=)
NM_000170.3(GLDC):c.395C>A (p.Ser132Ter)
NM_000170.3(GLDC):c.395C>G (p.Ser132Trp) rs386833576
NM_000170.3(GLDC):c.396G>T (p.Ser132=) rs542613459
NM_000170.3(GLDC):c.398A>C (p.Tyr133Ser)
NM_000170.3(GLDC):c.399T>C (p.Tyr133=)
NM_000170.3(GLDC):c.39C>T (p.Gly13=) rs1819728146
NM_000170.3(GLDC):c.405C>T (p.Gly135=)
NM_000170.3(GLDC):c.411_412insAATA (p.Tyr138fs) rs1563864784
NM_000170.3(GLDC):c.413A>T (p.Tyr138Phe) rs386833577
NM_000170.3(GLDC):c.420C>T (p.Asn140=)
NM_000170.3(GLDC):c.421T>C (p.Cys141Arg) rs759792163
NM_000170.3(GLDC):c.422G>A (p.Cys141Tyr) rs1563864774
NM_000170.3(GLDC):c.425C>A (p.Ser142Ter) rs2129948971
NM_000170.3(GLDC):c.429G>A (p.Val143=)
NM_000170.3(GLDC):c.42C>T (p.Arg14=) rs2130032913
NM_000170.3(GLDC):c.431C>A (p.Pro144Gln) rs747464155
NM_000170.3(GLDC):c.433C>T (p.Gln145Ter) rs1819059889
NM_000170.3(GLDC):c.437C>A (p.Thr146Lys) rs376578742
NM_000170.3(GLDC):c.438G>T (p.Thr146=) rs13289273
NM_000170.3(GLDC):c.443T>C (p.Leu148Ser) rs1819059273
NM_000170.3(GLDC):c.447del (p.Asn150fs)
NM_000170.3(GLDC):c.449A>C (p.Asn150Thr) rs386833578
NM_000170.3(GLDC):c.449A>G (p.Asn150Ser) rs386833578
NM_000170.3(GLDC):c.44G>A (p.Gly15Glu) rs1405876098
NM_000170.3(GLDC):c.450C>G (p.Asn150Lys)
NM_000170.3(GLDC):c.452T>G (p.Leu151Ter)
NM_000170.3(GLDC):c.457G>T (p.Glu153Ter) rs386833579
NM_000170.3(GLDC):c.462C>T (p.Asn154=)
NM_000170.3(GLDC):c.465A>G (p.Ser155=)
NM_000170.3(GLDC):c.466G>C (p.Gly156Arg) rs1819058509
NM_000170.3(GLDC):c.466G>T (p.Gly156Ter) rs1819058509
NM_000170.3(GLDC):c.467G>A (p.Gly156Glu) rs2129948795
NM_000170.3(GLDC):c.468A>G (p.Gly156=) rs2129948789
NM_000170.3(GLDC):c.470+10T>C
NM_000170.3(GLDC):c.470+16G>C
NM_000170.3(GLDC):c.470+17T>C
NM_000170.3(GLDC):c.470+1G>C
NM_000170.3(GLDC):c.470+4A>G rs2129948774
NM_000170.3(GLDC):c.470+9T>C rs2129948755
NM_000170.3(GLDC):c.471-12T>C
NM_000170.3(GLDC):c.471-13G>T
NM_000170.3(GLDC):c.471-14T>G
NM_000170.3(GLDC):c.471-15T>A rs1310810720
NM_000170.3(GLDC):c.471-15T>C
NM_000170.3(GLDC):c.471-17T>A
NM_000170.3(GLDC):c.471-18C>G
NM_000170.3(GLDC):c.471-18C>T
NM_000170.3(GLDC):c.471-1G>C rs1818826951
NM_000170.3(GLDC):c.471-1G>T
NM_000170.3(GLDC):c.471-20A>T
NM_000170.3(GLDC):c.471-5dup rs2129916881
NM_000170.3(GLDC):c.471-7C>G rs1362669104
NM_000170.3(GLDC):c.472A>G (p.Ile158Val)
NM_000170.3(GLDC):c.474C>T (p.Ile158=) rs2129916861
NM_000170.3(GLDC):c.478C>T (p.Gln160Ter) rs1264725941
NM_000170.3(GLDC):c.480G>A (p.Gln160=)
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys) rs386833580
NM_000170.3(GLDC):c.490T>C (p.Tyr164His)
NM_000170.3(GLDC):c.492C>G (p.Tyr164Ter) rs746124283
NM_000170.3(GLDC):c.493C>G (p.Gln165Glu) rs2129916804
NM_000170.3(GLDC):c.493C>T (p.Gln165Ter)
NM_000170.3(GLDC):c.493del (p.Gln165fs)
NM_000170.3(GLDC):c.498T>G (p.Pro166=)
NM_000170.3(GLDC):c.49G>C (p.Gly17Arg)
NM_000170.3(GLDC):c.4C>A (p.Gln2Lys) rs1554652870
NM_000170.3(GLDC):c.4C>T (p.Gln2Ter) rs1554652870
NM_000170.3(GLDC):c.504G>A (p.Val168=)
NM_000170.3(GLDC):c.504G>T (p.Val168=)
NM_000170.3(GLDC):c.509_510del (p.Gln170fs) rs2129916678
NM_000170.3(GLDC):c.510G>A (p.Gln170=)
NM_000170.3(GLDC):c.513G>C (p.Gly171=) rs386833581
NM_000170.3(GLDC):c.51G>C (p.Gly17=) rs947785805
NM_000170.3(GLDC):c.527T>A (p.Leu176Ter)
NM_000170.3(GLDC):c.527T>C (p.Leu176Ser)
NM_000170.3(GLDC):c.527del (p.Leu176fs) rs1563859767
NM_000170.3(GLDC):c.531C>G (p.Leu177=) rs763706954
NM_000170.3(GLDC):c.531C>T (p.Leu177=)
NM_000170.3(GLDC):c.533A>G (p.Asn178Ser)
NM_000170.3(GLDC):c.534C>T (p.Asn178=) rs375402770
NM_000170.3(GLDC):c.543C>T (p.Thr181=)
NM_000170.3(GLDC):c.547del (p.Val183fs)
NM_000170.3(GLDC):c.548_550delinsA (p.Val183fs)
NM_000170.3(GLDC):c.550T>A (p.Cys184Ser)
NM_000170.3(GLDC):c.551G>A (p.Cys184Tyr) rs1263123723
NM_000170.3(GLDC):c.552T>A (p.Cys184Ter) rs759699162
NM_000170.3(GLDC):c.555C>T (p.Asp185=) rs2129916426
NM_000170.3(GLDC):c.560C>A (p.Thr187Lys) rs386833582
NM_000170.3(GLDC):c.560C>G (p.Thr187Arg) rs386833582
NM_000170.3(GLDC):c.564C>A (p.Gly188=)
NM_000170.3(GLDC):c.567G>A (p.Leu189=)
NM_000170.3(GLDC):c.570C>T (p.Asp190=) rs574428768
NM_000170.3(GLDC):c.573_574insA (p.Ala192fs)
NM_000170.3(GLDC):c.575C>G (p.Ala192Gly) rs2129916367
NM_000170.3(GLDC):c.579T>C (p.Asn193=)
NM_000170.3(GLDC):c.580G>A (p.Ala194Thr)
NM_000170.3(GLDC):c.580G>T (p.Ala194Ser)
NM_000170.3(GLDC):c.582A>G (p.Ala194=) rs1587964992
NM_000170.3(GLDC):c.582_589del (p.Ser195fs)
NM_000170.3(GLDC):c.585_589del (p.Leu196fs)
NM_000170.3(GLDC):c.586del (p.Leu196fs) rs2129916327
NM_000170.3(GLDC):c.589C>T (p.Leu197=) rs1461615694
NM_000170.3(GLDC):c.594T>A (p.Asp198Glu)
NM_000170.3(GLDC):c.600G>T (p.Gly200=)
NM_000170.3(GLDC):c.600del (p.Thr201fs) rs2129916293
NM_000170.3(GLDC):c.602C>G (p.Thr201Ser)
NM_000170.3(GLDC):c.605C>G (p.Ala202Gly) rs386833583
NM_000170.3(GLDC):c.605C>T (p.Ala202Val) rs386833583
NM_000170.3(GLDC):c.609C>A (p.Ala203=)
NM_000170.3(GLDC):c.609C>G (p.Ala203=) rs201699152
NM_000170.3(GLDC):c.609C>T (p.Ala203=) rs201699152
NM_000170.3(GLDC):c.610G>A (p.Ala204Thr)
NM_000170.3(GLDC):c.613del (p.Glu205fs) rs2129916235
NM_000170.3(GLDC):c.618A>G (p.Ala206=) rs764552944
NM_000170.3(GLDC):c.622C>A (p.Gln208Lys)
NM_000170.3(GLDC):c.622C>T (p.Gln208Ter) rs1163351205
NM_000170.3(GLDC):c.624G>T (p.Gln208His) rs1385183318
NM_000170.3(GLDC):c.625C>T (p.Leu209=)
NM_000170.3(GLDC):c.627G>A (p.Leu209=)
NM_000170.3(GLDC):c.629G>A (p.Cys210Tyr)
NM_000170.3(GLDC):c.633C>A (p.Tyr211Ter) rs776895767
NM_000170.3(GLDC):c.634A>C (p.Arg212=) rs1212968746
NM_000170.3(GLDC):c.635+10C>T
NM_000170.3(GLDC):c.635+14C>T
NM_000170.3(GLDC):c.635+15A>G
NM_000170.3(GLDC):c.635+16A>T rs182471927
NM_000170.3(GLDC):c.635+1G>A rs1368757896
NM_000170.3(GLDC):c.635+1G>T
NM_000170.3(GLDC):c.635+3G>C
NM_000170.3(GLDC):c.635+7G>A
NM_000170.3(GLDC):c.635+8G>A rs760774268
NM_000170.3(GLDC):c.635+9C>A rs775573191
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys) rs386833584
NM_000170.3(GLDC):c.636-12T>C
NM_000170.3(GLDC):c.636-12del
NM_000170.3(GLDC):c.636-15T>C
NM_000170.3(GLDC):c.636-17C>G
NM_000170.3(GLDC):c.636-18G>A
NM_000170.3(GLDC):c.636-1G>T
NM_000170.3(GLDC):c.636-20G>T
NM_000170.3(GLDC):c.636-2A>G
NM_000170.3(GLDC):c.636-5A>G rs1818740864
NM_000170.3(GLDC):c.636-5A>T
NM_000170.3(GLDC):c.636-6C>T rs2129903875
NM_000170.3(GLDC):c.636-7T>C
NM_000170.3(GLDC):c.636-9T>C rs1254322993
NM_000170.3(GLDC):c.636A>G (p.Arg212=)
NM_000170.3(GLDC):c.639C>T (p.His213=)
NM_000170.3(GLDC):c.639CAA[1] (p.Asn214del) rs1222749984
NM_000170.3(GLDC):c.63C>T (p.Arg21=)
NM_000170.3(GLDC):c.642C>G (p.Asn214Lys) rs775546889
NM_000170.3(GLDC):c.643A>G (p.Lys215Glu) rs907616957
NM_000170.3(GLDC):c.645G>A (p.Lys215=) rs1818740340
NM_000170.3(GLDC):c.646A>C (p.Arg216=)
NM_000170.3(GLDC):c.646A>T (p.Arg216Trp)
NM_000170.3(GLDC):c.64C>T (p.Leu22=)
NM_000170.3(GLDC):c.663T>G (p.Val221=) rs2129903677
NM_000170.3(GLDC):c.669C>A (p.Pro223=)
NM_000170.3(GLDC):c.66G>C (p.Leu22=) rs1337924090
NM_000170.3(GLDC):c.66G>T (p.Leu22=) rs1337924090
NM_000170.3(GLDC):c.675C>T (p.Cys225=)
NM_000170.3(GLDC):c.678C>A (p.His226Gln)
NM_000170.3(GLDC):c.681A>C (p.Pro227=)
NM_000170.3(GLDC):c.681A>G (p.Pro227=) rs1818739152
NM_000170.3(GLDC):c.682C>T (p.Gln228Ter)
NM_000170.3(GLDC):c.684G>A (p.Gln228=) rs2129903563
NM_000170.3(GLDC):c.689T>C (p.Ile230Thr)
NM_000170.3(GLDC):c.704C>G (p.Thr235Ser)
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter) rs386833585
NM_000170.3(GLDC):c.707G>C (p.Arg236Pro) rs772832052
NM_000170.3(GLDC):c.708_709del (p.Ala237fs)
NM_000170.3(GLDC):c.70G>T (p.Gly24Trp)
NM_000170.3(GLDC):c.712A>C (p.Lys238Gln) rs2129903388
NM_000170.3(GLDC):c.713+12G>C
NM_000170.3(GLDC):c.713+13A>T
NM_000170.3(GLDC):c.713+14T>G rs560495542
NM_000170.3(GLDC):c.713+17G>C
NM_000170.3(GLDC):c.713+18T>A
NM_000170.3(GLDC):c.713+18del
NM_000170.3(GLDC):c.713+19G>A
NM_000170.3(GLDC):c.713+1G>A rs903653902
NM_000170.3(GLDC):c.713+7_713+10del rs2129903352
NM_000170.3(GLDC):c.713+8A>G
NM_000170.3(GLDC):c.713+8A>T rs367971072
NM_000170.3(GLDC):c.713+9T>C
NM_000170.3(GLDC):c.714-10G>A
NM_000170.3(GLDC):c.714-11T>C
NM_000170.3(GLDC):c.714-13T>A
NM_000170.3(GLDC):c.714-15_714-13del rs780790361
NM_000170.3(GLDC):c.714-17G>T
NM_000170.3(GLDC):c.714-18T>C
NM_000170.3(GLDC):c.714-19T>C
NM_000170.3(GLDC):c.714-19T>G rs1387477311
NM_000170.3(GLDC):c.714-1G>A rs2129898670
NM_000170.3(GLDC):c.714-4C>A rs1206369229
NM_000170.3(GLDC):c.714-4C>G rs1206369229
NM_000170.3(GLDC):c.714-5T>A
NM_000170.3(GLDC):c.714-8C>G rs746399537
NM_000170.3(GLDC):c.714-9T>C rs2129898712
NM_000170.3(GLDC):c.719C>A (p.Thr240Asn)
NM_000170.3(GLDC):c.719C>T (p.Thr240Ile) rs1563857096
NM_000170.3(GLDC):c.71G>A (p.Gly24Glu) rs967983950
NM_000170.3(GLDC):c.720T>C (p.Thr240=) rs2129898600
NM_000170.3(GLDC):c.721G>A (p.Gly241Arg) rs2129898592
NM_000170.3(GLDC):c.723A>G (p.Gly241=)
NM_000170.3(GLDC):c.726C>T (p.Val242=) rs377750481
NM_000170.3(GLDC):c.72G>A (p.Gly24=) rs1161994258
NM_000170.3(GLDC):c.72G>C (p.Gly24=) rs1161994258
NM_000170.3(GLDC):c.734_735delinsT (p.Glu245fs)
NM_000170.3(GLDC):c.747C>G (p.Pro249=)
NM_000170.3(GLDC):c.74del (p.Gly25fs)
NM_000170.3(GLDC):c.754del (p.Met252fs)
NM_000170.3(GLDC):c.759C>T (p.Asp253=)
NM_000170.3(GLDC):c.771A>T (p.Lys257Asn)
NM_000170.3(GLDC):c.772G>T (p.Asp258Tyr) rs369719863
NM_000170.3(GLDC):c.773_774insGACAGTA (p.Asp258fs)
NM_000170.3(GLDC):c.775G>C (p.Val259Leu)
NM_000170.3(GLDC):c.777C>T (p.Val259=)
NM_000170.3(GLDC):c.77C>A (p.Ser26Ter) rs2130032664
NM_000170.3(GLDC):c.780T>C (p.Ser260=) rs2129898347
NM_000170.3(GLDC):c.782G>C (p.Gly261Ala)
NM_000170.3(GLDC):c.783A>T (p.Gly261=)
NM_000170.3(GLDC):c.78G>A (p.Ser26=) rs915226152
NM_000170.3(GLDC):c.78G>T (p.Ser26=)
NM_000170.3(GLDC):c.790T>C (p.Phe264Leu) rs1038444873
NM_000170.3(GLDC):c.792C>T (p.Phe264=)
NM_000170.3(GLDC):c.793del (p.Gln265fs) rs386833586
NM_000170.3(GLDC):c.796T>G (p.Tyr266Asp) rs1818705322
NM_000170.3(GLDC):c.798C>G (p.Tyr266Ter) rs2129898271
NM_000170.3(GLDC):c.808G>T (p.Glu270Ter) rs386833588
NM_000170.3(GLDC):c.80_93del (p.Gly27fs)
NM_000170.3(GLDC):c.810G>A (p.Glu270=) rs760055824
NM_000170.3(GLDC):c.811G>A (p.Gly271Arg) rs1554648113
NM_000170.3(GLDC):c.811G>C (p.Gly271Arg)
NM_000170.3(GLDC):c.815A>C (p.Lys272Thr)
NM_000170.3(GLDC):c.815A>G (p.Lys272Arg) rs566939288
NM_000170.3(GLDC):c.815A>T (p.Lys272Met)
NM_000170.3(GLDC):c.819G>A (p.Val273=) rs2129898179
NM_000170.3(GLDC):c.81G>A (p.Gly27=) rs1457809070
NM_000170.3(GLDC):c.81G>T (p.Gly27=)
NM_000170.3(GLDC):c.825C>G (p.Asp275Glu) rs1818704651
NM_000170.3(GLDC):c.827T>C (p.Phe276Ser) rs967825860
NM_000170.3(GLDC):c.830C>G (p.Thr277Arg)
NM_000170.3(GLDC):c.830C>T (p.Thr277Met)
NM_000170.3(GLDC):c.831G>C (p.Thr277=) rs369824891
NM_000170.3(GLDC):c.831G>T (p.Thr277=) rs369824891
NM_000170.3(GLDC):c.834A>G (p.Glu278=)
NM_000170.3(GLDC):c.835C>A (p.Leu279Ile)
NM_000170.3(GLDC):c.837C>T (p.Leu279=) rs755904706
NM_000170.3(GLDC):c.83C>T (p.Pro28Leu) rs1819724719
NM_000170.3(GLDC):c.840G>A (p.Val280=)
NM_000170.3(GLDC):c.840G>T (p.Val280=) rs781162390
NM_000170.3(GLDC):c.843G>T (p.Glu281Asp) rs1563857008
NM_000170.3(GLDC):c.846_847del (p.Arg282fs)
NM_000170.3(GLDC):c.847G>A (p.Ala283Thr) rs386833589
NM_000170.3(GLDC):c.848C>G (p.Ala283Gly) rs2129898042
NM_000170.3(GLDC):c.849T>C (p.Ala283=) rs2129898030
NM_000170.3(GLDC):c.84G>A (p.Pro28=)
NM_000170.3(GLDC):c.84G>C (p.Pro28=) rs1259938806
NM_000170.3(GLDC):c.850C>A (p.His284Asn)
NM_000170.3(GLDC):c.851A>C (p.His284Pro) rs1210767970
NM_000170.3(GLDC):c.853C>T (p.Gln285Ter) rs1818703974
NM_000170.3(GLDC):c.858T>G (p.Ser286Arg)
NM_000170.3(GLDC):c.859G>C (p.Gly287Arg) rs1291181951
NM_000170.3(GLDC):c.859G>T (p.Gly287Trp) rs1291181951
NM_000170.3(GLDC):c.861+11C>G rs757254927
NM_000170.3(GLDC):c.861+18G>C
NM_000170.3(GLDC):c.861+18G>T rs1387226807
NM_000170.3(GLDC):c.861+1G>T rs386833590
NM_000170.3(GLDC):c.861+20G>T
NM_000170.3(GLDC):c.861+2T>A rs2129897960
NM_000170.3(GLDC):c.861+2T>C
NM_000170.3(GLDC):c.861+4G>A
NM_000170.3(GLDC):c.861+5G>A rs192663616
NM_000170.3(GLDC):c.861+5G>C rs192663616
NM_000170.3(GLDC):c.861+7dup rs2129897938
NM_000170.3(GLDC):c.861+8_861+9del rs753142140
NM_000170.3(GLDC):c.861G>C (p.Gly287=) rs540315265
NM_000170.3(GLDC):c.861G>T (p.Gly287=)
NM_000170.3(GLDC):c.862-10T>A rs1264036061
NM_000170.3(GLDC):c.862-16C>T rs780268150
NM_000170.3(GLDC):c.862-18C>G
NM_000170.3(GLDC):c.862-18C>T
NM_000170.3(GLDC):c.862-5_883del rs2129896575
NM_000170.3(GLDC):c.862-7T>C rs761854548
NM_000170.3(GLDC):c.862-7T>G rs761854548
NM_000170.3(GLDC):c.862-8C>G
NM_000170.3(GLDC):c.862-9C>G rs1818696548
NM_000170.3(GLDC):c.862-9C>T
NM_000170.3(GLDC):c.862-9_862-6del rs2129896706
NM_000170.3(GLDC):c.864C>T (p.Ser288=)
NM_000170.3(GLDC):c.871T>C (p.Cys291Arg) rs141014950
NM_000170.3(GLDC):c.872G>A (p.Cys291Tyr) rs777632051
NM_000170.3(GLDC):c.879T>A (p.Ala293=) rs776503486
NM_000170.3(GLDC):c.87C>T (p.Cys29=) rs2130032585
NM_000170.3(GLDC):c.880A>G (p.Thr294Ala) rs1818695779
NM_000170.3(GLDC):c.882T>C (p.Thr294=) rs757906469
NM_000170.3(GLDC):c.885C>G (p.Asp295Glu)
NM_000170.3(GLDC):c.886C>T (p.Leu296Phe) rs200413149
NM_000170.3(GLDC):c.887T>G (p.Leu296Arg) rs386833591
NM_000170.3(GLDC):c.88T>A (p.Trp30Arg)
NM_000170.3(GLDC):c.894T>C (p.Ala298=) rs2129896515
NM_000170.3(GLDC):c.896T>A (p.Leu299Ter) rs1818695432
NM_000170.3(GLDC):c.89G>A (p.Trp30Ter) rs1819724531
NM_000170.3(GLDC):c.89G>T (p.Trp30Leu)
NM_000170.3(GLDC):c.8C>A (p.Ser3Tyr)
NM_000170.3(GLDC):c.900C>A (p.Cys300Ter) rs143256976
NM_000170.3(GLDC):c.903C>T (p.Ile301=) rs1818695265
NM_000170.3(GLDC):c.906G>A (p.Leu302=)
NM_000170.3(GLDC):c.90G>A (p.Trp30Ter)
NM_000170.3(GLDC):c.911C>A (p.Pro304Gln) rs1207147043
NM_000170.3(GLDC):c.912A>G (p.Pro304=)
NM_000170.3(GLDC):c.913C>A (p.Pro305Thr) rs370964168
NM_000170.3(GLDC):c.918A>C (p.Gly306=) rs1157125186
NM_000170.3(GLDC):c.918A>G (p.Gly306=)
NM_000170.3(GLDC):c.91G>T (p.Ala31Ser)
NM_000170.3(GLDC):c.91del (p.Ala31fs)
NM_000170.3(GLDC):c.921A>G (p.Glu307=)
NM_000170.3(GLDC):c.925G>A (p.Gly309Arg)
NM_000170.3(GLDC):c.926G>T (p.Gly309Val)
NM_000170.3(GLDC):c.930A>C (p.Val310=)
NM_000170.3(GLDC):c.931G>A (p.Asp311Asn)
NM_000170.3(GLDC):c.933C>T (p.Asp311=)
NM_000170.3(GLDC):c.937G>A (p.Ala313Thr)
NM_000170.3(GLDC):c.937G>C (p.Ala313Pro) rs386833592
NM_000170.3(GLDC):c.937G>T (p.Ala313Ser)
NM_000170.3(GLDC):c.939C>T (p.Ala313=)
NM_000170.3(GLDC):c.93G>C (p.Ala31=) rs2130032552
NM_000170.3(GLDC):c.941T>C (p.Leu314Pro)
NM_000170.3(GLDC):c.945C>G (p.Gly315=)
NM_000170.3(GLDC):c.948C>T (p.Ser316=) rs2129896227
NM_000170.3(GLDC):c.94_121del (p.Pro32fs)
NM_000170.3(GLDC):c.951_952del (p.Gln318fs)
NM_000170.3(GLDC):c.953A>G (p.Gln318Arg)
NM_000170.3(GLDC):c.954G>A (p.Gln318=) rs1818693894
NM_000170.3(GLDC):c.957A>G (p.Arg319=)
NM_000170.3(GLDC):c.959T>C (p.Phe320Ser) rs773173613
NM_000170.3(GLDC):c.959_960del (p.Phe320fs)
NM_000170.3(GLDC):c.95C>T (p.Pro32Leu)
NM_000170.3(GLDC):c.960T>C (p.Phe320=)
NM_000170.3(GLDC):c.961G>C (p.Gly321Arg) rs1184125501
NM_000170.3(GLDC):c.962G>C (p.Gly321Ala) rs1818693650
NM_000170.3(GLDC):c.963A>G (p.Gly321=) rs1471765259
NM_000170.3(GLDC):c.969_970dup (p.Leu324fs) rs1818693456
NM_000170.3(GLDC):c.96G>A (p.Pro32=) rs1430526811
NM_000170.3(GLDC):c.975C>G (p.Gly325=) rs748941890
NM_000170.3(GLDC):c.976T>C (p.Tyr326His)
NM_000170.3(GLDC):c.978T>C (p.Tyr326=)
NM_000170.3(GLDC):c.97C>T (p.Arg33Trp)
NM_000170.3(GLDC):c.981G>A (p.Gly327=) rs1818693268
NM_000170.3(GLDC):c.981G>C (p.Gly327=) rs1818693268
NM_000170.3(GLDC):c.981G>T (p.Gly327=)
NM_000170.3(GLDC):c.983G>A (p.Gly328Glu)
NM_000170.3(GLDC):c.984A>G (p.Gly328=) rs2129896036
NM_000170.3(GLDC):c.984A>T (p.Gly328=)
NM_000170.3(GLDC):c.985C>A (p.Pro329Thr) rs386833593
NM_000170.3(GLDC):c.989A>G (p.His330Arg) rs1267445922
NM_000170.3(GLDC):c.993A>G (p.Ala331=)
NM_000170.3(GLDC):c.996A>C (p.Ala332=)
NM_000170.3(GLDC):c.996A>G (p.Ala332=)
NM_000170.3(GLDC):c.99G>A (p.Arg33=) rs1554652817
NM_000170.3(GLDC):c.9C>G (p.Ser3=)
NM_000170.3(GLDC):c.9C>T (p.Ser3=)
NM_000481.4(AMT):c.*621A>G rs2049007839
NM_000481.4(AMT):c.1001G>T (p.Ser334Ile) rs2107929053
NM_000481.4(AMT):c.1002T>C (p.Ser334=)
NM_000481.4(AMT):c.1005C>T (p.Pro335=) rs2107929049
NM_000481.4(AMT):c.1008C>T (p.Ile336=)
NM_000481.4(AMT):c.1009C>T (p.Leu337=)
NM_000481.4(AMT):c.1011G>C (p.Leu337=) rs1339213409
NM_000481.4(AMT):c.102C>T (p.Arg34=)
NM_000481.4(AMT):c.1030A>T (p.Ile344Phe) rs2049024917
NM_000481.4(AMT):c.1033+10C>T
NM_000481.4(AMT):c.1033+13G>C
NM_000481.4(AMT):c.1033+17A>G
NM_000481.4(AMT):c.1033+18G>A
NM_000481.4(AMT):c.1033+18G>C
NM_000481.4(AMT):c.1033+1G>A
NM_000481.4(AMT):c.1033+1G>C rs2107928969
NM_000481.4(AMT):c.1033+2T>C rs1553638247
NM_000481.4(AMT):c.1033+2dup rs976598152
NM_000481.4(AMT):c.1034-11T>G
NM_000481.4(AMT):c.1034-16T>C
NM_000481.4(AMT):c.1034-19G>A
NM_000481.4(AMT):c.1034-1G>C rs1575302765
NM_000481.4(AMT):c.1034-1dup rs1238918084
NM_000481.4(AMT):c.1034-30_1034-18dup rs2107928803
NM_000481.4(AMT):c.1034-6T>C
NM_000481.4(AMT):c.1034-8C>T
NM_000481.4(AMT):c.1039G>C (p.Val347Leu)
NM_000481.4(AMT):c.1040T>C (p.Val347Ala)
NM_000481.4(AMT):c.1040dup (p.Thr348fs)
NM_000481.4(AMT):c.1053C>T (p.Cys351=) rs747901545
NM_000481.4(AMT):c.1056del (p.Ser353fs) rs2049022161
NM_000481.4(AMT):c.1058C>A (p.Ser353Tyr) rs768293167
NM_000481.4(AMT):c.1059C>T (p.Ser353=)
NM_000481.4(AMT):c.1062C>G (p.Pro354=) rs377227163
NM_000481.4(AMT):c.1062C>T (p.Pro354=) rs377227163
NM_000481.4(AMT):c.1063dup (p.Ser355fs)
NM_000481.4(AMT):c.1066_1067del (p.Leu356fs)
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del) rs768940499
NM_000481.4(AMT):c.1073A>C (p.Lys358Thr)
NM_000481.4(AMT):c.1076A>C (p.Asn359Thr) rs2107928652
NM_000481.4(AMT):c.1077T>C (p.Asn359=) rs1559527521
NM_000481.4(AMT):c.1079_1080del (p.Val360fs)
NM_000481.4(AMT):c.1087G>A (p.Gly363Ser)
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg) rs1167886830
NM_000481.4(AMT):c.1089T>C (p.Gly363=)
NM_000481.4(AMT):c.108A>C (p.Thr36=) rs1179441264
NM_000481.4(AMT):c.108A>G (p.Thr36=)
NM_000481.4(AMT):c.1098C>T (p.Pro366=) rs1231229906
NM_000481.4(AMT):c.10G>C (p.Ala4Pro) rs753829515
NM_000481.4(AMT):c.10del (p.Ala4fs)
NM_000481.4(AMT):c.1101C>A (p.Cys367Ter)
NM_000481.4(AMT):c.1102G>T (p.Glu368Ter)
NM_000481.4(AMT):c.1104G>A (p.Glu368=) rs767969842
NM_000481.4(AMT):c.1107_1108del (p.Tyr369_Ser370delinsTer) rs2049020585
NM_000481.4(AMT):c.1108A>G (p.Ser370Gly)
NM_000481.4(AMT):c.1111C>T (p.Arg371Cys) rs1200405341
NM_000481.4(AMT):c.1112G>A (p.Arg371His) rs147006017
NM_000481.4(AMT):c.1122A>G (p.Thr374=) rs2107928529
NM_000481.4(AMT):c.1124T>C (p.Met375Thr)
NM_000481.4(AMT):c.1128G>C (p.Leu376=) rs2107928524
NM_000481.4(AMT):c.1131G>A (p.Leu377=)
NM_000481.4(AMT):c.1134A>C (p.Val378=) rs2107928520
NM_000481.4(AMT):c.1138G>A (p.Val380Met) rs1306590343
NM_000481.4(AMT):c.1141C>A (p.Arg381=) rs775324601
NM_000481.4(AMT):c.1142G>A (p.Arg381Gln)
NM_000481.4(AMT):c.1150CAG[1] (p.Gln385del) rs747544827
NM_000481.4(AMT):c.1153C>T (p.Gln385Ter) rs1553638206
NM_000481.4(AMT):c.1155G>C (p.Gln385His)
NM_000481.4(AMT):c.1162G>A (p.Val388Ile)
NM_000481.4(AMT):c.1164A>C (p.Val388=)
NM_000481.4(AMT):c.116A>G (p.Tyr39Cys)
NM_000481.4(AMT):c.116_117del (p.Leu38_Tyr39insTer)
NM_000481.4(AMT):c.1181T>C (p.Phe394Ser)
NM_000481.4(AMT):c.1187C>T (p.Pro396Leu)
NM_000481.4(AMT):c.1190C>A (p.Thr397Lys) rs886058683
NM_000481.4(AMT):c.1191A>C (p.Thr397=) rs2107928409
NM_000481.4(AMT):c.1197C>T (p.Tyr399=) rs756452579
NM_000481.4(AMT):c.1198T>C (p.Tyr400His)
NM_000481.4(AMT):c.1199A>C (p.Tyr400Ser)
NM_000481.4(AMT):c.1199A>G (p.Tyr400Cys) rs201548428
NM_000481.4(AMT):c.1199_1202delinsTAT (p.Tyr400fs) rs1553638191
NM_000481.4(AMT):c.1203C>T (p.Thr401=) rs1489152600
NM_000481.4(AMT):c.1204C>T (p.Leu402Phe)
NM_000481.4(AMT):c.1204_1206del (p.Leu402del) rs1559527384
NM_000481.4(AMT):c.1206C>G (p.Leu402=) rs2107928357
NM_000481.4(AMT):c.1209del (p.Lys403fs) rs1553638189
NM_000481.4(AMT):c.125A>G (p.His42Arg) rs121964983
NM_000481.4(AMT):c.127C>T (p.Leu43=)
NM_000481.4(AMT):c.12T>A (p.Ala4=)
NM_000481.4(AMT):c.130G>A (p.Ala44Thr) rs2049118414
NM_000481.4(AMT):c.132C>T (p.Ala44=)
NM_000481.4(AMT):c.136G>A (p.Gly46Ser)
NM_000481.4(AMT):c.138C>T (p.Gly46=)
NM_000481.4(AMT):c.139G>T (p.Gly47Trp) rs121964982
NM_000481.4(AMT):c.13G>A (p.Val5Ile)
NM_000481.4(AMT):c.13G>C (p.Val5Leu)
NM_000481.4(AMT):c.144_148del (p.Lys48fs) rs1553638822
NM_000481.4(AMT):c.148G>T (p.Val50Leu) rs148917929
NM_000481.4(AMT):c.148del (p.Val50fs) rs386833678
NM_000481.4(AMT):c.14dup (p.Ser6fs) rs773988915
NM_000481.4(AMT):c.150G>A (p.Val50=)
NM_000481.4(AMT):c.153G>T (p.Ala51=) rs768510463
NM_000481.4(AMT):c.155T>C (p.Phe52Ser) rs2107937639
NM_000481.4(AMT):c.155T>G (p.Phe52Cys) rs2107937639
NM_000481.4(AMT):c.156T>C (p.Phe52=) rs993993334
NM_000481.4(AMT):c.159G>C (p.Ala53=) rs201080782
NM_000481.4(AMT):c.15_18del (p.Ser6fs) rs1553638904
NM_000481.4(AMT):c.164G>A (p.Trp55Ter) rs1559530507
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer) rs1483890972
NM_000481.4(AMT):c.168_171del (p.Leu57fs) rs2107937574
NM_000481.4(AMT):c.16del (p.Ser6fs) rs1553638907
NM_000481.4(AMT):c.171G>T (p.Leu57=) rs2107937565
NM_000481.4(AMT):c.175G>A (p.Val59Met)
NM_000481.4(AMT):c.178C>T (p.Gln60Ter) rs2107937536
NM_000481.4(AMT):c.184C>T (p.Arg62Trp)
NM_000481.4(AMT):c.185G>A (p.Arg62Gln)
NM_000481.4(AMT):c.186G>C (p.Arg62=) rs2049116342
NM_000481.4(AMT):c.188A>G (p.Asp63Gly) rs2107937495
NM_000481.4(AMT):c.189C>G (p.Asp63Glu)
NM_000481.4(AMT):c.18T>C (p.Ser6=)
NM_000481.4(AMT):c.196A>G (p.Thr66Ala) rs2049115954
NM_000481.4(AMT):c.20_21del (p.Val7fs) rs1575309867
NM_000481.4(AMT):c.216A>G (p.Thr72=) rs2049115116
NM_000481.4(AMT):c.217C>G (p.Arg73Gly)
NM_000481.4(AMT):c.21G>C (p.Val7=)
NM_000481.4(AMT):c.221del (p.Gln74fs) rs2107937370
NM_000481.4(AMT):c.222G>A (p.Gln74=) rs2107937363
NM_000481.4(AMT):c.224del (p.His75fs) rs2107937352
NM_000481.4(AMT):c.228C>T (p.Cys76=)
NM_000481.4(AMT):c.230C>A (p.Ser77Ter) rs386833680
NM_000481.4(AMT):c.235T>A (p.Phe79Ile)
NM_000481.4(AMT):c.236_237del (p.Leu78_Phe79insTer)
NM_000481.4(AMT):c.240C>T (p.Asp80=) rs1316776129
NM_000481.4(AMT):c.241G>A (p.Val81Met)
NM_000481.4(AMT):c.242T>C (p.Val81Ala)
NM_000481.4(AMT):c.248A>C (p.His83Pro)
NM_000481.4(AMT):c.250_251del (p.Met84fs)
NM_000481.4(AMT):c.256C>T (p.Gln86Ter) rs1575308888
NM_000481.4(AMT):c.257dup (p.Thr87fs) rs2107937267
NM_000481.4(AMT):c.258+10G>A rs2107937238
NM_000481.4(AMT):c.258+13A>G
NM_000481.4(AMT):c.258+14G>A
NM_000481.4(AMT):c.258+17C>T
NM_000481.4(AMT):c.258+1G>A
NM_000481.4(AMT):c.258+6C>G rs1451725049
NM_000481.4(AMT):c.258+8del
NM_000481.4(AMT):c.259-13A>G
NM_000481.4(AMT):c.259-16T>C
NM_000481.4(AMT):c.259-1G>C rs386833681
NM_000481.4(AMT):c.259-20G>A
NM_000481.4(AMT):c.259-2A>C rs748522054
NM_000481.4(AMT):c.259-2A>T
NM_000481.4(AMT):c.259-4C>T rs769933849
NM_000481.4(AMT):c.259-6C>T rs2049102970
NM_000481.4(AMT):c.259-8dup rs1195350527
NM_000481.4(AMT):c.259-9C>T rs2107936124
NM_000481.4(AMT):c.261C>G (p.Thr87=)
NM_000481.4(AMT):c.264_265dup (p.Ile89fs)
NM_000481.4(AMT):c.269_270delinsCC (p.Leu90Pro) rs2107936070
NM_000481.4(AMT):c.270T>C (p.Leu90=)
NM_000481.4(AMT):c.271_273del (p.Gly91del) rs2107936054
NM_000481.4(AMT):c.279C>T (p.Asp93=) rs1575308228
NM_000481.4(AMT):c.281G>A (p.Arg94Gln)
NM_000481.4(AMT):c.282G>A (p.Arg94=)
NM_000481.4(AMT):c.285G>A (p.Val95=) rs2049102202
NM_000481.4(AMT):c.288G>A (p.Lys96=)
NM_000481.4(AMT):c.289C>T (p.Leu97=)
NM_000481.4(AMT):c.28C>G (p.Arg10Gly)
NM_000481.4(AMT):c.293T>G (p.Met98Arg) rs2107935989
NM_000481.4(AMT):c.297G>A (p.Glu99=) rs2107935984
NM_000481.4(AMT):c.29G>C (p.Arg10Pro)
NM_000481.4(AMT):c.2T>A (p.Met1Lys) rs1266259634
NM_000481.4(AMT):c.2T>C (p.Met1Thr) rs1266259634
NM_000481.4(AMT):c.303A>G (p.Leu101=) rs756789501
NM_000481.4(AMT):c.306G>A (p.Val102=)
NM_000481.4(AMT):c.306G>C (p.Val102=) rs964800487
NM_000481.4(AMT):c.311G>A (p.Gly104Glu) rs753221440
NM_000481.4(AMT):c.324G>A (p.Glu108=)
NM_000481.4(AMT):c.335A>G (p.Asn112Ser) rs2107935915
NM_000481.4(AMT):c.339+15T>C
NM_000481.4(AMT):c.339+17C>T
NM_000481.4(AMT):c.339+18T>G
NM_000481.4(AMT):c.339+2T>C
NM_000481.4(AMT):c.339+3G>A rs752570901
NM_000481.4(AMT):c.339+3G>T rs752570901
NM_000481.4(AMT):c.339+8C>A
NM_000481.4(AMT):c.340-10T>C
NM_000481.4(AMT):c.340-12C>T
NM_000481.4(AMT):c.340-17C>T
NM_000481.4(AMT):c.340-18G>A
NM_000481.4(AMT):c.340-9T>C rs2107933861
NM_000481.4(AMT):c.340-9del
NM_000481.4(AMT):c.341G>A (p.Gly114Glu) rs1575306589
NM_000481.4(AMT):c.345A>T (p.Thr115=)
NM_000481.4(AMT):c.346C>T (p.Leu116=)
NM_000481.4(AMT):c.348_349del (p.Ser117fs) rs1553638649
NM_000481.4(AMT):c.351G>A (p.Ser117=)
NM_000481.4(AMT):c.357T>C (p.Phe119=) rs1559529373
NM_000481.4(AMT):c.359C>G (p.Thr120Ser)
NM_000481.4(AMT):c.359C>T (p.Thr120Ile) rs766350668
NM_000481.4(AMT):c.35G>A (p.Gly12Asp)
NM_000481.4(AMT):c.360C>T (p.Thr120=)
NM_000481.4(AMT):c.364G>A (p.Glu122Lys)
NM_000481.4(AMT):c.371G>A (p.Gly124Glu) rs1575306496
NM_000481.4(AMT):c.372A>C (p.Gly124=) rs1365568599
NM_000481.4(AMT):c.381A>G (p.Leu127=) rs2049077607
NM_000481.4(AMT):c.381_383delinsGG (p.Asp128fs) rs2107933735
NM_000481.4(AMT):c.383del (p.Asp128fs) rs2107933731
NM_000481.4(AMT):c.387C>T (p.Asp129=)
NM_000481.4(AMT):c.393T>C (p.Ile131=) rs2107933716
NM_000481.4(AMT):c.402T>C (p.Asn134=) rs2107933698
NM_000481.4(AMT):c.40C>T (p.Arg14Cys)
NM_000481.4(AMT):c.414C>T (p.Gly138=)
NM_000481.4(AMT):c.415C>G (p.His139Asp)
NM_000481.4(AMT):c.419dup (p.Tyr141fs)
NM_000481.4(AMT):c.41G>A (p.Arg14His)
NM_000481.4(AMT):c.423T>C (p.Tyr141=)
NM_000481.4(AMT):c.42C>T (p.Arg14=) rs2107938326
NM_000481.4(AMT):c.432C>G (p.Ser144=) rs2107933634
NM_000481.4(AMT):c.434A>T (p.Asn145Ile) rs386833682
NM_000481.4(AMT):c.448G>A (p.Glu150Lys)
NM_000481.4(AMT):c.450G>A (p.Glu150=)
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000481.4(AMT):c.467T>C (p.Met156Thr) rs2107933555
NM_000481.4(AMT):c.471+10C>G
NM_000481.4(AMT):c.471+10C>T
NM_000481.4(AMT):c.471+10del
NM_000481.4(AMT):c.471+10dup
NM_000481.4(AMT):c.471+11T>C
NM_000481.4(AMT):c.471+12_471+13del rs370772505
NM_000481.4(AMT):c.471+14G>A
NM_000481.4(AMT):c.471+19C>A
NM_000481.4(AMT):c.471+20T>C
NM_000481.4(AMT):c.471+2T>C rs386833684
NM_000481.4(AMT):c.471+2_471+7del
NM_000481.4(AMT):c.471+8C>T rs367986797
NM_000481.4(AMT):c.471+9C>A rs760770619
NM_000481.4(AMT):c.471+9C>G
NM_000481.4(AMT):c.472-10T>C rs1211622746
NM_000481.4(AMT):c.472-11C>T
NM_000481.4(AMT):c.472-17G>C
NM_000481.4(AMT):c.472-19_472-18del
NM_000481.4(AMT):c.472-7C>T
NM_000481.4(AMT):c.472-8T>C
NM_000481.4(AMT):c.472-9G>A
NM_000481.4(AMT):c.474C>T (p.Asp158=) rs765176362
NM_000481.4(AMT):c.477G>A (p.Lys159=) rs2107932948
NM_000481.4(AMT):c.478del (p.Val160fs) rs1575305901
NM_000481.4(AMT):c.486G>A (p.Glu162=)
NM_000481.4(AMT):c.489T>G (p.Leu163=)
NM_000481.4(AMT):c.501C>A (p.Gly167=)
NM_000481.4(AMT):c.501C>G (p.Gly167=)
NM_000481.4(AMT):c.502A>C (p.Arg168=) rs2107932896
NM_000481.4(AMT):c.512G>A (p.Gly171Asp)
NM_000481.4(AMT):c.513C>T (p.Gly171=) rs555045517
NM_000481.4(AMT):c.514C>T (p.Leu172=)
NM_000481.4(AMT):c.515T>C (p.Leu172Pro) rs1366977126
NM_000481.4(AMT):c.522G>A (p.Val174=)
NM_000481.4(AMT):c.523T>C (p.Leu175=) rs535318089
NM_000481.4(AMT):c.526G>A (p.Asp176Asn)
NM_000481.4(AMT):c.531T>C (p.Asn177=) rs2049066669
NM_000481.4(AMT):c.533C>T (p.Ala178Val)
NM_000481.4(AMT):c.534C>T (p.Ala178=) rs928504970
NM_000481.4(AMT):c.534_535dup (p.Leu179fs)
NM_000481.4(AMT):c.535del (p.Leu179fs) rs386833685
NM_000481.4(AMT):c.538C>T (p.Leu180=) rs1559528976
NM_000481.4(AMT):c.546G>T (p.Leu182=)
NM_000481.4(AMT):c.550+10C>G
NM_000481.4(AMT):c.550+10_550+15del
NM_000481.4(AMT):c.550+12G>A
NM_000481.4(AMT):c.550+16T>C
NM_000481.4(AMT):c.550+17G>A
NM_000481.4(AMT):c.550+18G>C
NM_000481.4(AMT):c.550+5G>A
NM_000481.4(AMT):c.550+7G>A rs755478633
NM_000481.4(AMT):c.550+9G>A
NM_000481.4(AMT):c.550+9G>T
NM_000481.4(AMT):c.551-11C>T rs760119523
NM_000481.4(AMT):c.551-15G>A
NM_000481.4(AMT):c.551-18C>G
NM_000481.4(AMT):c.551-4C>T
NM_000481.4(AMT):c.551-6G>A rs937463808
NM_000481.4(AMT):c.551-9T>C
NM_000481.4(AMT):c.552C>A (p.Gly184=)
NM_000481.4(AMT):c.552C>T (p.Gly184=) rs771745221
NM_000481.4(AMT):c.561A>C (p.Ala187=) rs2107932359
NM_000481.4(AMT):c.562G>A (p.Ala188Thr)
NM_000481.4(AMT):c.565C>T (p.Gln189Ter)
NM_000481.4(AMT):c.574C>T (p.Gln192Ter) rs121964986
NM_000481.4(AMT):c.578C>G (p.Ala193Gly)
NM_000481.4(AMT):c.579C>A (p.Ala193=) rs749313171
NM_000481.4(AMT):c.57C>T (p.Pro19=) rs770512923
NM_000481.4(AMT):c.57_59dup (p.Pro20dup) rs386833686
NM_000481.4(AMT):c.580G>A (p.Gly194Ser)
NM_000481.4(AMT):c.582C>A (p.Gly194=) rs377552553
NM_000481.4(AMT):c.585G>A (p.Val195=) rs2049060090
NM_000481.4(AMT):c.589G>A (p.Asp197Asn) rs200550585
NM_000481.4(AMT):c.591T>C (p.Asp197=) rs2107932258
NM_000481.4(AMT):c.597G>A (p.Leu199=)
NM_000481.4(AMT):c.59del (p.Pro20fs) rs386833686
NM_000481.4(AMT):c.59dup (p.Ala21fs) rs386833686
NM_000481.4(AMT):c.602_603del (p.Lys201fs) rs1279743247
NM_000481.4(AMT):c.609C>A (p.Pro203=) rs1314175857
NM_000481.4(AMT):c.609dup (p.Phe204fs) rs2107932226
NM_000481.4(AMT):c.614T>G (p.Met205Arg) rs2107932197
NM_000481.4(AMT):c.61del (p.Ala21fs) rs386833687
NM_000481.4(AMT):c.621T>C (p.Ser207=) rs2107932184
NM_000481.4(AMT):c.624T>C (p.Ala208=)
NM_000481.4(AMT):c.625G>A (p.Val209Met) rs370287514
NM_000481.4(AMT):c.62C>T (p.Ala21Val)
NM_000481.4(AMT):c.633G>A (p.Glu211=)
NM_000481.4(AMT):c.63del (p.Leu22fs) rs386833688
NM_000481.4(AMT):c.643G>A (p.Val215Met) rs1030915796
NM_000481.4(AMT):c.643G>C (p.Val215Leu) rs1030915796
NM_000481.4(AMT):c.645_646del (p.Ser216fs)
NM_000481.4(AMT):c.648T>C (p.Ser216=)
NM_000481.4(AMT):c.651C>T (p.Gly217=) rs1256823141
NM_000481.4(AMT):c.654C>T (p.Cys218=)
NM_000481.4(AMT):c.655C>T (p.Arg219Cys)
NM_000481.4(AMT):c.657dup (p.Val220fs) rs2049058298
NM_000481.4(AMT):c.663C>A (p.Thr221=) rs2107932078
NM_000481.4(AMT):c.664C>A (p.Arg222Ser) rs781466698
NM_000481.4(AMT):c.665G>T (p.Arg222Leu) rs562695274
NM_000481.4(AMT):c.666C>A (p.Arg222=) rs2107932060
NM_000481.4(AMT):c.666C>T (p.Arg222=) rs2107932060
NM_000481.4(AMT):c.669T>A (p.Cys223Ter)
NM_000481.4(AMT):c.669T>C (p.Cys223=) rs2107932045
NM_000481.4(AMT):c.66G>A (p.Leu22=) rs2107938211
NM_000481.4(AMT):c.672_680del (p.Tyr225_Gly227del)
NM_000481.4(AMT):c.674A>G (p.Tyr225Cys) rs386833689
NM_000481.4(AMT):c.677C>T (p.Thr226Ile) rs2107932030
NM_000481.4(AMT):c.67T>C (p.Cys23Arg)
NM_000481.4(AMT):c.681A>G (p.Gly227=) rs2107932020
NM_000481.4(AMT):c.685G>C (p.Asp229His) rs1553638463
NM_000481.4(AMT):c.687T>C (p.Asp229=) rs1292063206
NM_000481.4(AMT):c.690T>C (p.Gly230=)
NM_000481.4(AMT):c.693G>A (p.Val231=)
NM_000481.4(AMT):c.695_696+21del rs1553638457
NM_000481.4(AMT):c.696+10G>A
NM_000481.4(AMT):c.696+15G>A
NM_000481.4(AMT):c.696+16_696+18del
NM_000481.4(AMT):c.696+19T>C
NM_000481.4(AMT):c.696+1G>A rs1553638460
NM_000481.4(AMT):c.696+20G>T
NM_000481.4(AMT):c.696+2T>A rs541594122
NM_000481.4(AMT):c.696+9A>G
NM_000481.4(AMT):c.696+9A>T rs758602446
NM_000481.4(AMT):c.696G>A (p.Glu232=) rs1352631535
NM_000481.4(AMT):c.697-10T>C rs2107931790
NM_000481.4(AMT):c.697-14G>A
NM_000481.4(AMT):c.697-17T>C
NM_000481.4(AMT):c.697-18C>T
NM_000481.4(AMT):c.697-19C>T
NM_000481.4(AMT):c.697-1G>A
NM_000481.4(AMT):c.697-20C>T
NM_000481.4(AMT):c.697-2A>C
NM_000481.4(AMT):c.697-7C>T rs2107931789
NM_000481.4(AMT):c.697-8T>G
NM_000481.4(AMT):c.699C>A (p.Ile233=) rs369840558
NM_000481.4(AMT):c.6G>A (p.Gln2=)
NM_000481.4(AMT):c.705G>T (p.Val235=) rs1324646911
NM_000481.4(AMT):c.705_710dup (p.Pro236_Val237dup) rs1553638433
NM_000481.4(AMT):c.708G>A (p.Pro236=) rs760662679
NM_000481.4(AMT):c.708G>C (p.Pro236=)
NM_000481.4(AMT):c.70C>G (p.Arg24Gly)
NM_000481.4(AMT):c.70C>T (p.Arg24Cys) rs371656220
NM_000481.4(AMT):c.714G>A (p.Ala238=) rs772179698
NM_000481.4(AMT):c.714G>C (p.Ala238=)
NM_000481.4(AMT):c.714G>T (p.Ala238=) rs772179698
NM_000481.4(AMT):c.714_724del (p.Gly239fs)
NM_000481.4(AMT):c.719C>T (p.Ala240Val)
NM_000481.4(AMT):c.721G>A (p.Val241Ile) rs1004875097
NM_000481.4(AMT):c.727C>A (p.Leu243Met) rs1575304886
NM_000481.4(AMT):c.732A>C (p.Ala244=)
NM_000481.4(AMT):c.732A>G (p.Ala244=) rs2049053045
NM_000481.4(AMT):c.734_735del (p.Thr245fs) rs2049052992
NM_000481.4(AMT):c.738T>A (p.Ala246=) rs746145744
NM_000481.4(AMT):c.738T>C (p.Ala246=)
NM_000481.4(AMT):c.73C>T (p.Pro25Ser) rs751869343
NM_000481.4(AMT):c.74del (p.Pro25fs)
NM_000481.4(AMT):c.753A>G (p.Pro251=)
NM_000481.4(AMT):c.754G>A (p.Glu252Lys)
NM_000481.4(AMT):c.756G>A (p.Glu252=)
NM_000481.4(AMT):c.757del (p.Glu252_Val253insTer)
NM_000481.4(AMT):c.75A>G (p.Pro25=)
NM_000481.4(AMT):c.765G>A (p.Leu255=)
NM_000481.4(AMT):c.768A>T (p.Ala256=)
NM_000481.4(AMT):c.771G>A (p.Gly257=) rs1575304815
NM_000481.4(AMT):c.771G>C (p.Gly257=)
NM_000481.4(AMT):c.771del (p.Leu258fs)
NM_000481.4(AMT):c.774G>A (p.Leu258=) rs756652661
NM_000481.4(AMT):c.77T>A (p.Leu26His)
NM_000481.4(AMT):c.786C>T (p.Asp262=)
NM_000481.4(AMT):c.796C>T (p.Leu266=)
NM_000481.4(AMT):c.797T>C (p.Leu266Pro) rs2049051428
NM_000481.4(AMT):c.805G>A (p.Gly269Ser) rs2049051018
NM_000481.4(AMT):c.806G>A (p.Gly269Asp) rs121964981
NM_000481.4(AMT):c.810C>T (p.Leu270=) rs2107931481
NM_000481.4(AMT):c.813C>T (p.Cys271=) rs2107931474
NM_000481.4(AMT):c.815dup (p.Tyr273fs)
NM_000481.4(AMT):c.819T>A (p.Tyr273Ter) rs2107931458
NM_000481.4(AMT):c.81T>C (p.Ser27=) rs2107938151
NM_000481.4(AMT):c.822_836dup (p.Glu279_His280insAsnAspIleAspGlu)
NM_000481.4(AMT):c.826G>A (p.Asp276Asn)
NM_000481.4(AMT):c.830T>A (p.Ile277Asn) rs1052014497
NM_000481.4(AMT):c.840C>T (p.His280=) rs759675831
NM_000481.4(AMT):c.841A>G (p.Thr281Ala)
NM_000481.4(AMT):c.843T>A (p.Thr281=)
NM_000481.4(AMT):c.843T>G (p.Thr281=) rs774244896
NM_000481.4(AMT):c.845C>T (p.Thr282Ile)
NM_000481.4(AMT):c.849T>A (p.Pro283=)
NM_000481.4(AMT):c.849dup (p.Val284fs) rs1553638408
NM_000481.4(AMT):c.850G>A (p.Val284Met) rs2107931384
NM_000481.4(AMT):c.855G>A (p.Glu285=) rs2049049754
NM_000481.4(AMT):c.856G>A (p.Gly286Ser) rs778159864
NM_000481.4(AMT):c.857G>A (p.Gly286Asp) rs2049049669
NM_000481.4(AMT):c.867T>C (p.Ser289=) rs1342940505
NM_000481.4(AMT):c.86C>T (p.Ala29Val) rs2049122995
NM_000481.4(AMT):c.870G>A (p.Trp290Ter) rs797045082
NM_000481.4(AMT):c.875del (p.Leu292fs) rs1553638405
NM_000481.4(AMT):c.877+16A>C
NM_000481.4(AMT):c.877+17C>T
NM_000481.4(AMT):c.877+18T>C
NM_000481.4(AMT):c.877+4A>T rs2049049249
NM_000481.4(AMT):c.877+5G>A
NM_000481.4(AMT):c.877+7T>G rs2107931324
NM_000481.4(AMT):c.877+9G>A
NM_000481.4(AMT):c.877+9G>C
NM_000481.4(AMT):c.878-11del
NM_000481.4(AMT):c.878-12G>A
NM_000481.4(AMT):c.878-15T>C rs771225879
NM_000481.4(AMT):c.878-16A>T rs904011401
NM_000481.4(AMT):c.878-19C>G
NM_000481.4(AMT):c.878-19C>T
NM_000481.4(AMT):c.878-6dup rs2107929373
NM_000481.4(AMT):c.878-7T>C
NM_000481.4(AMT):c.878-7del
NM_000481.4(AMT):c.878-8T>C rs2107929385
NM_000481.4(AMT):c.878-9A>G
NM_000481.4(AMT):c.878G>A (p.Gly293Glu)
NM_000481.4(AMT):c.879G>A (p.Gly293=) rs972670254
NM_000481.4(AMT):c.87A>G (p.Ala29=)
NM_000481.4(AMT):c.886C>G (p.Arg296Gly)
NM_000481.4(AMT):c.886C>T (p.Arg296Cys) rs1056820947
NM_000481.4(AMT):c.887G>T (p.Arg296Leu) rs386833690
NM_000481.4(AMT):c.892G>A (p.Ala298Thr) rs2049028177
NM_000481.4(AMT):c.90+10A>G
NM_000481.4(AMT):c.90+10A>T rs1415657857
NM_000481.4(AMT):c.90+12G>A
NM_000481.4(AMT):c.90+13G>A
NM_000481.4(AMT):c.90+1G>T
NM_000481.4(AMT):c.90+20T>C
NM_000481.4(AMT):c.90+4G>A rs2107938113
NM_000481.4(AMT):c.90+5G>C
NM_000481.4(AMT):c.90+9G>C rs1447827681
NM_000481.4(AMT):c.906C>T (p.Phe302=)
NM_000481.4(AMT):c.908del (p.Pro303fs) rs1575303218
NM_000481.4(AMT):c.91-10C>A
NM_000481.4(AMT):c.91-14C>T
NM_000481.4(AMT):c.91-17A>G rs2107937879
NM_000481.4(AMT):c.91-20C>G
NM_000481.4(AMT):c.91-2A>G
NM_000481.4(AMT):c.91-7C>T rs758737016
NM_000481.4(AMT):c.911G>A (p.Gly304Glu) rs2049027770
NM_000481.4(AMT):c.923T>C (p.Ile308Thr)
NM_000481.4(AMT):c.928C>T (p.Pro310Ser)
NM_000481.4(AMT):c.930C>G (p.Pro310=)
NM_000481.4(AMT):c.930C>T (p.Pro310=)
NM_000481.4(AMT):c.931C>T (p.Gln311Ter)
NM_000481.4(AMT):c.946G>T (p.Val316Leu)
NM_000481.4(AMT):c.948G>A (p.Val316=) rs1575303144
NM_000481.4(AMT):c.950A>G (p.Gln317Arg) rs146114174
NM_000481.4(AMT):c.954_959delinsAAGGCA (p.Arg320His)
NM_000481.4(AMT):c.957G>A (p.Arg319=)
NM_000481.4(AMT):c.959G>T (p.Arg320Leu) rs121964985
NM_000481.4(AMT):c.95T>C (p.Val32Ala)
NM_000481.4(AMT):c.961G>C (p.Val321Leu)
NM_000481.4(AMT):c.964_976dup (p.Glu326delinsGlyValAspValTer)
NM_000481.4(AMT):c.965_966del (p.Gly322fs)
NM_000481.4(AMT):c.970_972del (p.Met324del) rs386833691
NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs) rs386833692
NM_000481.4(AMT):c.982del (p.Ala328fs) rs1553638266
NM_000481.4(AMT):c.982dup (p.Ala328fs) rs1553638266
NM_000481.4(AMT):c.987del (p.Met330fs) rs1278265933
NM_000481.4(AMT):c.991C>T (p.Arg331Trp)
NM_000481.4(AMT):c.992G>A (p.Arg331Gln) rs1368099067
NM_000481.4(AMT):c.999_1000del (p.His333fs)
NM_000481.4(AMT):c.99C>T (p.Leu33=) rs2107937805
NM_001164710.2(AMT):c.340-552del rs2107933839
NM_004483.5(GCSH):c.113T>G (p.Val38Gly) rs888630308
NM_004483.5(GCSH):c.132A>C (p.Gly44=) rs1185522027
NM_004483.5(GCSH):c.132A>T (p.Gly44=) rs1185522027
NM_004483.5(GCSH):c.149-3T>C rs1972381011
NM_004483.5(GCSH):c.151C>T (p.Arg51Cys) rs1972380968
NM_004483.5(GCSH):c.17T>G (p.Val6Gly) rs1567591606
NM_004483.5(GCSH):c.1A>T (p.Met1Leu) rs886039730
NM_004483.5(GCSH):c.203C>T (p.Thr68Ile) rs145768524
NM_004483.5(GCSH):c.20G>A (p.Arg7Gln) rs1373562429
NM_004483.5(GCSH):c.22A>G (p.Ser8Gly) rs546860042
NM_004483.5(GCSH):c.246T>A (p.Val82=) rs536733893
NM_004483.5(GCSH):c.254G>T (p.Cys85Phe) rs1972310010
NM_004483.5(GCSH):c.259C>A (p.Leu87Ile) rs2151769189
NM_004483.5(GCSH):c.28C>T (p.Arg10Trp) rs1254680841
NM_004483.5(GCSH):c.292+10C>T rs571999768
NM_004483.5(GCSH):c.292+7G>A rs1972309218
NM_004483.5(GCSH):c.293-16dup rs202181338
NM_004483.5(GCSH):c.293-4T>C rs1555529308
NM_004483.5(GCSH):c.313A>G (p.Ser105Gly) rs747131765
NM_004483.5(GCSH):c.318G>A (p.Val106=)
NM_004483.5(GCSH):c.31G>A (p.Ala11Thr) rs766468139
NM_004483.5(GCSH):c.31G>T (p.Ala11Ser) rs766468139
NM_004483.5(GCSH):c.338_342del (p.Tyr113fs) rs1972233022
NM_004483.5(GCSH):c.375A>G (p.Glu125=) rs868224309
NM_004483.5(GCSH):c.38T>C (p.Leu13Pro) rs2151776055
NM_004483.5(GCSH):c.423T>C (p.Asp141=) rs749405278
NM_004483.5(GCSH):c.425-1G>T rs386833859
NM_004483.5(GCSH):c.425G>T (p.Gly142Val)
NM_004483.5(GCSH):c.446T>C (p.Leu149Pro) rs944048995
NM_004483.5(GCSH):c.46C>T (p.Leu16=) rs1231763519
NM_004483.5(GCSH):c.4G>C (p.Ala2Pro) rs975360553
NM_004483.5(GCSH):c.502A>G (p.Ile168Val) rs1972198288
NM_004483.5(GCSH):c.511A>T (p.Ile171Phe) rs1322444223
NM_032316.3(NICN1):c.*2266dup rs886058684
NM_032316.3(NICN1):c.*2283C>G rs192377809
NM_032316.3(NICN1):c.*2283C>T rs192377809
NM_032316.3(NICN1):c.*2359_*2468del rs2049123051
NM_032316.3(NICN1):c.*634G>C rs1416250958

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