ClinVar Miner

List of variants reported as uncertain significance for Non-ketotic hyperglycinemia by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 721
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HGVS dbSNP gnomAD frequency
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.1000T>C (p.Phe334Leu) rs149133229 0.00031
NM_000481.4(AMT):c.697-3C>T rs373703503 0.00022
NM_000481.4(AMT):c.1136A>C (p.Glu379Ala) rs201189946 0.00018
NM_000170.3(GLDC):c.700C>G (p.Gln234Glu) rs150698281 0.00016
NM_000170.3(GLDC):c.110G>A (p.Ser37Asn) rs763471932 0.00014
NM_004483.5(GCSH):c.89C>T (p.Pro30Leu) rs1003539348 0.00014
NM_000170.3(GLDC):c.2518A>G (p.Met840Val) rs781693346 0.00011
NM_000481.4(AMT):c.952C>T (p.Arg318Trp) rs777583902 0.00011
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.194A>G (p.His65Arg) rs376248724 0.00010
NM_000481.4(AMT):c.701C>T (p.Ser234Leu) rs150998074 0.00010
NM_000170.3(GLDC):c.2378A>T (p.Asp793Val) rs150833015 0.00009
NM_000170.3(GLDC):c.3010C>G (p.Pro1004Ala) rs773642256 0.00009
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.2446G>A (p.Ala816Thr) rs775834004 0.00007
NM_000170.3(GLDC):c.578A>G (p.Asn193Ser) rs555919940 0.00007
NM_000170.3(GLDC):c.1121G>A (p.Arg374Lys) rs141065026 0.00006
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu) rs201135624 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.960T>G (p.Phe320Leu) rs771868469 0.00006
NM_000481.4(AMT):c.13G>T (p.Val5Leu) rs764032357 0.00006
NM_000481.4(AMT):c.401A>G (p.Asn134Ser) rs776832405 0.00006
NM_000170.3(GLDC):c.1067C>G (p.Thr356Ser) rs376612483 0.00005
NM_000170.3(GLDC):c.1926G>A (p.Thr642=) rs772101467 0.00005
NM_000170.3(GLDC):c.2578G>A (p.Gly860Ser) rs753759723 0.00005
NM_000170.3(GLDC):c.270G>C (p.Leu90Phe) rs747736821 0.00005
NM_000170.3(GLDC):c.886C>A (p.Leu296Ile) rs200413149 0.00005
NM_000481.4(AMT):c.436G>A (p.Ala146Thr) rs570868528 0.00005
NM_000170.3(GLDC):c.1424C>T (p.Thr475Ile) rs750883330 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.2362C>G (p.Leu788Val) rs139300551 0.00004
NM_000170.3(GLDC):c.2545A>G (p.Arg849Gly) rs778000679 0.00004
NM_000170.3(GLDC):c.292A>G (p.Asn98Asp) rs750964572 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.*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.203C>T (p.Ser68Leu) rs759015013 0.00004
NM_000481.4(AMT):c.403A>G (p.Thr135Ala) rs768698117 0.00004
NM_000481.4(AMT):c.752C>G (p.Pro251Arg) rs770999859 0.00004
NM_000481.4(AMT):c.944G>A (p.Arg315Lys) rs376366324 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_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.227G>C (p.Arg76Thr) rs143358660 0.00003
NM_000170.3(GLDC):c.2305C>A (p.Pro769Thr) rs751114163 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.2926G>A (p.Val976Met) rs150624881 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.953G>A (p.Arg318Gln) rs755780814 0.00003
NM_004483.5(GCSH):c.77G>A (p.Cys26Tyr) rs1443267686 0.00003
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.1501A>G (p.Met501Val) rs748216955 0.00002
NM_000170.3(GLDC):c.1510G>C (p.Glu504Gln) rs1038321056 0.00002
NM_000170.3(GLDC):c.1580+5G>C rs764790596 0.00002
NM_000170.3(GLDC):c.1702C>G (p.Leu568Val) rs760181670 0.00002
NM_000170.3(GLDC):c.1785C>G (p.Phe595Leu) rs201997592 0.00002
NM_000170.3(GLDC):c.1870G>A (p.Ala624Thr) rs143653301 0.00002
NM_000170.3(GLDC):c.2048C>G (p.Ala683Gly) rs1324189699 0.00002
NM_000170.3(GLDC):c.2243C>T (p.Ser748Leu) rs769035358 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.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.445C>T (p.Arg149Trp) rs183024300 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.829A>T (p.Thr277Ser) rs372595899 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.431C>T (p.Ser144Phe) rs147482804 0.00002
NM_000481.4(AMT):c.434A>G (p.Asn145Ser) rs386833682 0.00002
NM_000481.4(AMT):c.503G>C (p.Arg168Thr) rs200058579 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.658G>A (p.Val220Met) rs199638653 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_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.1114A>G (p.Ile372Val) rs755156031 0.00001
NM_000170.3(GLDC):c.11G>A (p.Cys4Tyr) rs1267461962 0.00001
NM_000170.3(GLDC):c.1328G>A (p.Gly443Asp) rs769583276 0.00001
NM_000170.3(GLDC):c.1333T>C (p.Ser445Pro) rs756770984 0.00001
NM_000170.3(GLDC):c.1366C>T (p.Arg456Trp) rs773119895 0.00001
NM_000170.3(GLDC):c.1401A>G (p.Thr467=) rs1818402760 0.00001
NM_000170.3(GLDC):c.1441C>G (p.Leu481Val) rs764170083 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.1567C>G (p.Gln523Glu) rs199711131 0.00001
NM_000170.3(GLDC):c.1570G>C (p.Val524Leu) rs751362463 0.00001
NM_000170.3(GLDC):c.1580+4T>G rs752642527 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.1759C>G (p.Gln587Glu) rs1296797567 0.00001
NM_000170.3(GLDC):c.1762G>C (p.Ala588Pro) rs780654157 0.00001
NM_000170.3(GLDC):c.1817C>T (p.Thr606Ile) rs772777667 0.00001
NM_000170.3(GLDC):c.1871C>T (p.Ala624Val) rs779980470 0.00001
NM_000170.3(GLDC):c.1887C>G (p.Ile629Met) rs1400097268 0.00001
NM_000170.3(GLDC):c.2013T>A (p.Asp671Glu) rs762425284 0.00001
NM_000170.3(GLDC):c.2039A>G (p.His680Arg) rs754531832 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.2114T>A (p.Val705Glu) rs753301368 0.00001
NM_000170.3(GLDC):c.2192T>C (p.Met731Thr) rs763854673 0.00001
NM_000170.3(GLDC):c.2202+6A>G rs368418946 0.00001
NM_000170.3(GLDC):c.230A>G (p.Glu77Gly) rs569728662 0.00001
NM_000170.3(GLDC):c.2332C>G (p.Pro778Ala) rs1476838990 0.00001
NM_000170.3(GLDC):c.2437A>G (p.Ile813Val) rs751624844 0.00001
NM_000170.3(GLDC):c.255+5G>T rs372569318 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.2684T>C (p.Met895Thr) rs769606225 0.00001
NM_000170.3(GLDC):c.2749G>C (p.Asp917His) rs370297328 0.00001
NM_000170.3(GLDC):c.2831C>T (p.Pro944Leu) rs374969047 0.00001
NM_000170.3(GLDC):c.2869T>C (p.Ser957Pro) rs386833571 0.00001
NM_000170.3(GLDC):c.2903T>C (p.Val968Ala) rs554230348 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.3048G>C (p.Lys1016Asn) rs1034808665 0.00001
NM_000170.3(GLDC):c.31C>A (p.Arg11Ser) rs1359478814 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.38G>A (p.Gly13Asp) rs1819728208 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.528A>C (p.Leu176Phe) rs757566503 0.00001
NM_000170.3(GLDC):c.544A>G (p.Met182Val) rs541691467 0.00001
NM_000170.3(GLDC):c.589C>G (p.Leu197Val) rs1461615694 0.00001
NM_000170.3(GLDC):c.637C>A (p.His213Asn) rs1210682949 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.67G>A (p.Ala23Thr) rs978322077 0.00001
NM_000170.3(GLDC):c.838G>A (p.Val280Met) rs1258949524 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.959T>G (p.Phe320Cys) rs773173613 0.00001
NM_000481.4(AMT):c.110C>T (p.Pro37Leu) rs202225151 0.00001
NM_000481.4(AMT):c.1157T>C (p.Met386Thr) rs757170367 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.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.425T>G (p.Val142Gly) rs753217454 0.00001
NM_000481.4(AMT):c.443G>T (p.Cys148Phe) rs140697432 0.00001
NM_000481.4(AMT):c.476A>G (p.Lys159Arg) rs1553638556 0.00001
NM_000481.4(AMT):c.52T>C (p.Phe18Leu) rs778523705 0.00001
NM_000481.4(AMT):c.566A>C (p.Gln189Pro) rs1371408104 0.00001
NM_000481.4(AMT):c.59C>T (p.Pro20Leu) rs749087037 0.00001
NM_000481.4(AMT):c.613A>G (p.Met205Val) rs766904475 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.830T>C (p.Ile277Thr) rs1052014497 0.00001
NM_000481.4(AMT):c.883C>T (p.Arg295Cys) rs891522376 0.00001
NM_000481.4(AMT):c.890G>A (p.Arg297Gln) rs770048404 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_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.19C>T (p.Arg7Trp) rs976425490 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.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
NC_000003.11:g.(?_49394821)_(49459947_?)dup
NC_000003.11:g.(?_49456384)_(49459947_?)dup
NC_000009.11:g.(?_6533017)_(6540166_?)dup
NC_000009.11:g.(?_6533017)_(6645499_?)dup
NC_000009.11:g.(?_6550783)_(6645499_?)dup
NC_000009.11:g.(?_6554649)_(6645499_?)dup
NC_000009.11:g.(?_6587121)_(6645499_?)dup
NC_000009.11:g.(?_6587121)_(6645519_?)dup
NC_000009.11:g.(?_6604568)_(6645499_?)dup
NC_000009.11:g.(?_6620164)_(6645499_?)dup
NC_000009.11:g.(?_6620164)_(6645519_?)dup
NC_000009.11:g.(?_6620184)_(6720997_?)dup
NC_000009.11:g.(?_6644594)_(6645499_?)dup
NC_000009.12:g.(?_6532997)_(6540166_?)dup
NM_000170.3(GLDC):c.1007T>C (p.Val336Ala) rs1563856669
NM_000170.3(GLDC):c.1020G>C (p.Leu340Phe)
NM_000170.3(GLDC):c.1048G>C (p.Gly350Arg)
NM_000170.3(GLDC):c.1058G>A (p.Arg353Lys)
NM_000170.3(GLDC):c.1063G>A (p.Ala355Thr) rs1291866387
NM_000170.3(GLDC):c.1064C>T (p.Ala355Val)
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.1075G>A (p.Glu359Lys) rs1818624630
NM_000170.3(GLDC):c.107A>G (p.Asp36Gly)
NM_000170.3(GLDC):c.1087C>A (p.Leu363Ile) rs2129885472
NM_000170.3(GLDC):c.1094T>C (p.Leu365Pro)
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.1128G>T (p.Lys376Asn)
NM_000170.3(GLDC):c.1156G>A (p.Ala386Thr)
NM_000170.3(GLDC):c.118G>A (p.Gly40Ser)
NM_000170.3(GLDC):c.1196A>G (p.His399Arg)
NM_000170.3(GLDC):c.1202C>T (p.Ser401Phe) rs1563852496
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.1214A>G (p.Glu405Gly) rs1387648444
NM_000170.3(GLDC):c.1217A>G (p.His406Arg) rs1818464686
NM_000170.3(GLDC):c.1222G>T (p.Ala408Ser) rs1387492186
NM_000170.3(GLDC):c.1227G>C (p.Arg409Ser)
NM_000170.3(GLDC):c.1230G>T (p.Arg410Ser)
NM_000170.3(GLDC):c.1237A>T (p.Asn413Tyr)
NM_000170.3(GLDC):c.1254G>C (p.Leu418Phe)
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.1264C>A (p.Leu422Ile) rs1554647026
NM_000170.3(GLDC):c.1267A>G (p.Lys423Glu)
NM_000170.3(GLDC):c.1271G>A (p.Arg424Gln) rs2129853745
NM_000170.3(GLDC):c.1274C>T (p.Ala425Val)
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.1290G>C (p.Gln430His) rs1408480389
NM_000170.3(GLDC):c.130A>T (p.Ser44Cys) rs2130032299
NM_000170.3(GLDC):c.1314G>C (p.Leu438Phe) rs1286813560
NM_000170.3(GLDC):c.1319T>C (p.Ile440Thr) rs386833523
NM_000170.3(GLDC):c.1336G>A (p.Val446Met)
NM_000170.3(GLDC):c.1340A>T (p.Lys447Met) rs1161073883
NM_000170.3(GLDC):c.1360G>A (p.Ala454Thr)
NM_000170.3(GLDC):c.1363C>A (p.Gln455Lys) rs1818404451
NM_000170.3(GLDC):c.1364A>G (p.Gln455Arg)
NM_000170.3(GLDC):c.1370A>G (p.Gln457Arg)
NM_000170.3(GLDC):c.1378T>G (p.Phe460Val) rs2129853060
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.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.1402-3T>G
NM_000170.3(GLDC):c.1446C>G (p.Asp482Glu) rs201147701
NM_000170.3(GLDC):c.145G>T (p.Ala49Ser)
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.1482+6T>C
NM_000170.3(GLDC):c.1483-3C>G
NM_000170.3(GLDC):c.1483G>C (p.Glu495Gln) rs1554646734
NM_000170.3(GLDC):c.1484_1489del rs778109389
NM_000170.3(GLDC):c.1489G>A (p.Val497Ile)
NM_000170.3(GLDC):c.1489G>T (p.Val497Phe) rs1389059785
NM_000170.3(GLDC):c.1495G>A (p.Glu499Lys)
NM_000170.3(GLDC):c.1505G>C (p.Gly502Ala)
NM_000170.3(GLDC):c.1512G>C (p.Glu504Asp)
NM_000170.3(GLDC):c.1514G>A (p.Cys505Tyr)
NM_000170.3(GLDC):c.1539C>G (p.Phe513Leu)
NM_000170.3(GLDC):c.1553C>T (p.Pro518Leu) rs761064507
NM_000170.3(GLDC):c.1566T>A (p.His522Gln)
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.1600A>G (p.Ile534Val)
NM_000170.3(GLDC):c.1630A>G (p.Lys544Glu)
NM_000170.3(GLDC):c.1635C>G (p.Asp545Glu) rs2129837376
NM_000170.3(GLDC):c.164G>A (p.Arg55His) rs1195896229
NM_000170.3(GLDC):c.1658T>G (p.Ile553Ser) rs2129837261
NM_000170.3(GLDC):c.1661C>T (p.Pro554Leu) rs1244239144
NM_000170.3(GLDC):c.1689C>G (p.Asn563Lys) rs546431385
NM_000170.3(GLDC):c.1697C>A (p.Ser566Tyr)
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.1708C>G (p.Pro570Ala) rs1289915951
NM_000170.3(GLDC):c.1711A>G (p.Ile571Val)
NM_000170.3(GLDC):c.1714A>G (p.Thr572Ala)
NM_000170.3(GLDC):c.1722A>C (p.Lys574Asn) rs1554646530
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.1735A>G (p.Ile579Val) rs2129832016
NM_000170.3(GLDC):c.1756G>T (p.Asp586Tyr) rs1042809307
NM_000170.3(GLDC):c.176G>A (p.Arg59Lys) rs386833530
NM_000170.3(GLDC):c.1779G>C (p.Gln593His)
NM_000170.3(GLDC):c.1801G>C (p.Asp601His)
NM_000170.3(GLDC):c.1816A>G (p.Thr606Ala) rs2129831606
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.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.1842G>T (p.Gln614His)
NM_000170.3(GLDC):c.184G>T (p.Asp62Tyr) rs2130032047
NM_000170.3(GLDC):c.1850+6G>A
NM_000170.3(GLDC):c.1850G>C (p.Ser617Thr)
NM_000170.3(GLDC):c.1868A>T (p.Tyr623Phe) rs2129758401
NM_000170.3(GLDC):c.1871C>G (p.Ala624Gly) rs779980470
NM_000170.3(GLDC):c.1885A>G (p.Ile629Val) rs761680597
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.1926+3G>T rs1563839674
NM_000170.3(GLDC):c.1931G>A (p.Cys644Tyr) rs386833535
NM_000170.3(GLDC):c.194G>A (p.Arg65Gln)
NM_000170.3(GLDC):c.194G>C (p.Arg65Pro)
NM_000170.3(GLDC):c.1951C>G (p.His651Asp) rs2129735272
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.2000C>T (p.Pro667Leu)
NM_000170.3(GLDC):c.2008G>C (p.Val670Leu) rs767864486
NM_000170.3(GLDC):c.2011G>C (p.Asp671His) rs2129734998
NM_000170.3(GLDC):c.2013T>G (p.Asp671Glu)
NM_000170.3(GLDC):c.2017T>C (p.Tyr673His)
NM_000170.3(GLDC):c.2020G>T (p.Gly674Trp) rs2129734932
NM_000170.3(GLDC):c.2029G>A (p.Asp677Asn)
NM_000170.3(GLDC):c.2041C>A (p.Leu681Ile) rs753457618
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.2052+4C>T
NM_000170.3(GLDC):c.2052+6T>C rs1421593264
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.2085C>G (p.Ile695Met)
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.209C>A (p.Pro70His) rs776730073
NM_000170.3(GLDC):c.20C>T (p.Ala7Val) rs1420734296
NM_000170.3(GLDC):c.2125A>G (p.Asn709Asp)
NM_000170.3(GLDC):c.2136C>G (p.Asp712Glu) rs762761551
NM_000170.3(GLDC):c.214G>C (p.Asp72His)
NM_000170.3(GLDC):c.214G>T (p.Asp72Tyr) rs1819720191
NM_000170.3(GLDC):c.2159A>G (p.His720Arg)
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.2167C>G (p.Gln723Glu)
NM_000170.3(GLDC):c.2179G>C (p.Asp727His) rs2129725947
NM_000170.3(GLDC):c.2190T>A (p.Asn730Lys)
NM_000170.3(GLDC):c.2191A>G (p.Met731Val) rs545419197
NM_000170.3(GLDC):c.2201A>G (p.Gln734Arg) rs1817625875
NM_000170.3(GLDC):c.2203-20G>A rs1290189679
NM_000170.3(GLDC):c.2218C>G (p.Pro740Ala)
NM_000170.3(GLDC):c.2219C>G (p.Pro740Arg)
NM_000170.3(GLDC):c.2234C>G (p.Ser745Cys) rs1398537221
NM_000170.3(GLDC):c.224A>G (p.Gln75Arg) rs1819719916
NM_000170.3(GLDC):c.2259C>G (p.His753Gln) rs2129719894
NM_000170.3(GLDC):c.2305C>G (p.Pro769Ala)
NM_000170.3(GLDC):c.2310C>A (p.Ile770=) rs765661419
NM_000170.3(GLDC):c.2315+6T>C rs1817582202
NM_000170.3(GLDC):c.231G>C (p.Glu77Asp)
NM_000170.3(GLDC):c.2329G>A (p.Ala777Thr)
NM_000170.3(GLDC):c.2329G>T (p.Ala777Ser)
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.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.2353G>A (p.Val785Ile) rs372101832
NM_000170.3(GLDC):c.2356A>G (p.Ile786Val)
NM_000170.3(GLDC):c.2377G>A (p.Asp793Asn) rs776288649
NM_000170.3(GLDC):c.2381C>G (p.Ala794Gly) rs1817556275
NM_000170.3(GLDC):c.2384G>C (p.Cys795Ser)
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.2407_2408delinsTT (p.Ala803Phe)
NM_000170.3(GLDC):c.2410C>T (p.Pro804Ser) rs2129714808
NM_000170.3(GLDC):c.2431T>G (p.Leu811Val) rs2129714675
NM_000170.3(GLDC):c.2447C>T (p.Ala816Val) rs2129714588
NM_000170.3(GLDC):c.2461A>T (p.Met821Leu)
NM_000170.3(GLDC):c.2468G>A (p.Gly823Asp)
NM_000170.3(GLDC):c.247G>C (p.Gly83Arg) rs946962875
NM_000170.3(GLDC):c.2485G>A (p.Ala829Thr)
NM_000170.3(GLDC):c.2501T>C (p.Ile834Thr)
NM_000170.3(GLDC):c.2502A>G (p.Ile834Met)
NM_000170.3(GLDC):c.2509G>T (p.Ala837Ser)
NM_000170.3(GLDC):c.2512A>C (p.Asn838His) rs1817498068
NM_000170.3(GLDC):c.2519T>A (p.Met840Lys) rs386833561
NM_000170.3(GLDC):c.2521G>C (p.Ala841Pro) rs386833562
NM_000170.3(GLDC):c.2526G>C (p.Lys842Asn) rs548033815
NM_000170.3(GLDC):c.2528G>A (p.Arg843Gln) rs1422108790
NM_000170.3(GLDC):c.2537C>A (p.Thr846Lys)
NM_000170.3(GLDC):c.2537C>T (p.Thr846Ile) rs747336541
NM_000170.3(GLDC):c.2561G>A (p.Gly854Asp) rs1271552143
NM_000170.3(GLDC):c.2563G>A (p.Ala855Thr)
NM_000170.3(GLDC):c.2567G>C (p.Arg856Thr)
NM_000170.3(GLDC):c.2570-14A>G
NM_000170.3(GLDC):c.2573A>C (p.Tyr858Ser)
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.2579G>T (p.Gly860Val) rs2129663355
NM_000170.3(GLDC):c.2593T>A (p.Leu865Met) rs375375700
NM_000170.3(GLDC):c.2597A>G (p.Asp866Gly) rs1817224032
NM_000170.3(GLDC):c.2603G>C (p.Arg868Thr) rs1376198157
NM_000170.3(GLDC):c.260T>C (p.Ile87Thr) rs561846684
NM_000170.3(GLDC):c.2616G>C (p.Lys872Asn) rs778913771
NM_000170.3(GLDC):c.2625T>G (p.Asn875Lys)
NM_000170.3(GLDC):c.2633C>T (p.Ala878Val) rs2129663100
NM_000170.3(GLDC):c.263A>G (p.Asp88Gly)
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.2665+4A>C
NM_000170.3(GLDC):c.2674G>T (p.Ala892Ser)
NM_000170.3(GLDC):c.2695G>A (p.Val899Met) rs2129649975
NM_000170.3(GLDC):c.26G>A (p.Gly9Glu)
NM_000170.3(GLDC):c.2723C>T (p.Thr908Ile)
NM_000170.3(GLDC):c.2736C>G (p.Asp912Glu)
NM_000170.3(GLDC):c.2746C>G (p.Leu916Val)
NM_000170.3(GLDC):c.2768T>C (p.Met923Thr) rs2129649642
NM_000170.3(GLDC):c.2776A>G (p.Ile926Val)
NM_000170.3(GLDC):c.2779C>T (p.Arg927Trp)
NM_000170.3(GLDC):c.2780G>A (p.Arg927Gln) rs934940369
NM_000170.3(GLDC):c.2783A>G (p.Gln928Arg)
NM_000170.3(GLDC):c.2785G>A (p.Glu929Lys)
NM_000170.3(GLDC):c.2798T>A (p.Ile933Asn) rs758029533
NM_000170.3(GLDC):c.2802G>T (p.Glu934Asp)
NM_000170.3(GLDC):c.2806G>A (p.Gly936Ser)
NM_000170.3(GLDC):c.2815G>A (p.Asp939Asn)
NM_000170.3(GLDC):c.2819C>A (p.Pro940His) rs2129649391
NM_000170.3(GLDC):c.2838+4C>T rs200680938
NM_000170.3(GLDC):c.2839-3C>T rs1252272018
NM_000170.3(GLDC):c.2841G>A (p.Met947Ile) rs1214310966
NM_000170.3(GLDC):c.2843C>G (p.Ser948Cys) rs1817084329
NM_000170.3(GLDC):c.286C>T (p.Pro96Ser)
NM_000170.3(GLDC):c.2876A>C (p.His959Pro)
NM_000170.3(GLDC):c.2876A>G (p.His959Arg) rs572523552
NM_000170.3(GLDC):c.2890T>C (p.Tyr964His)
NM_000170.3(GLDC):c.289G>A (p.Ala97Thr) rs1587989978
NM_000170.3(GLDC):c.2900A>G (p.Glu967Gly)
NM_000170.3(GLDC):c.2919+2dup rs2129645182
NM_000170.3(GLDC):c.2919C>G (p.Leu973=) rs113736090
NM_000170.3(GLDC):c.2920-1G>C rs1474611877
NM_000170.3(GLDC):c.2920C>T (p.Pro974Ser) rs949553434
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.294C>A (p.Asn98Lys) 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.2965A>G (p.Ile989Val)
NM_000170.3(GLDC):c.2970T>G (p.Asp990Glu)
NM_000170.3(GLDC):c.2978A>G (p.Tyr993Cys)
NM_000170.3(GLDC):c.2983G>T (p.Asp995Tyr) rs1554641505
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.2993T>G (p.Leu998Arg) rs1817035007
NM_000170.3(GLDC):c.2995G>A (p.Val999Ile) rs2129641188
NM_000170.3(GLDC):c.3007C>T (p.Pro1003Ser)
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.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.3061del (p.Ter1021SerextTer?)
NM_000170.3(GLDC):c.315G>T (p.Leu105Phe)
NM_000170.3(GLDC):c.316A>G (p.Lys106Glu)
NM_000170.3(GLDC):c.335G>A (p.Cys112Tyr)
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.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.371C>T (p.Ser124Leu) rs1819062238
NM_000170.3(GLDC):c.381C>G (p.Asn127Lys) 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.398A>C (p.Tyr133Ser)
NM_000170.3(GLDC):c.421T>C (p.Cys141Arg) rs759792163
NM_000170.3(GLDC):c.431C>A (p.Pro144Gln) rs747464155
NM_000170.3(GLDC):c.443T>C (p.Leu148Ser) rs1819059273
NM_000170.3(GLDC):c.44G>A (p.Gly15Glu) rs1405876098
NM_000170.3(GLDC):c.470+4A>G rs2129948774
NM_000170.3(GLDC):c.472A>G (p.Ile158Val)
NM_000170.3(GLDC):c.493C>G (p.Gln165Glu) rs2129916804
NM_000170.3(GLDC):c.49G>C (p.Gly17Arg)
NM_000170.3(GLDC):c.4C>A (p.Gln2Lys) rs1554652870
NM_000170.3(GLDC):c.527T>C (p.Leu176Ser)
NM_000170.3(GLDC):c.533A>G (p.Asn178Ser)
NM_000170.3(GLDC):c.550T>A (p.Cys184Ser)
NM_000170.3(GLDC):c.551G>A (p.Cys184Tyr) rs1263123723
NM_000170.3(GLDC):c.560C>G (p.Thr187Arg) rs386833582
NM_000170.3(GLDC):c.575C>G (p.Ala192Gly) rs2129916367
NM_000170.3(GLDC):c.580G>T (p.Ala194Ser)
NM_000170.3(GLDC):c.602C>G (p.Thr201Ser)
NM_000170.3(GLDC):c.610G>A (p.Ala204Thr)
NM_000170.3(GLDC):c.622C>A (p.Gln208Lys)
NM_000170.3(GLDC):c.624G>T (p.Gln208His) rs1385183318
NM_000170.3(GLDC):c.629G>A (p.Cys210Tyr)
NM_000170.3(GLDC):c.634A>C (p.Arg212=) rs1212968746
NM_000170.3(GLDC):c.635+3G>C
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys) rs386833584
NM_000170.3(GLDC):c.636A>G (p.Arg212=)
NM_000170.3(GLDC):c.639CAA[1] (p.Asn214del) rs1222749984
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.646A>T (p.Arg216Trp)
NM_000170.3(GLDC):c.678C>A (p.His226Gln)
NM_000170.3(GLDC):c.689T>C (p.Ile230Thr)
NM_000170.3(GLDC):c.704C>G (p.Thr235Ser)
NM_000170.3(GLDC):c.70G>T (p.Gly24Trp)
NM_000170.3(GLDC):c.712A>C (p.Lys238Gln) rs2129903388
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.721G>A (p.Gly241Arg) rs2129898592
NM_000170.3(GLDC):c.771A>T (p.Lys257Asn)
NM_000170.3(GLDC):c.772G>T (p.Asp258Tyr) rs369719863
NM_000170.3(GLDC):c.775G>C (p.Val259Leu)
NM_000170.3(GLDC):c.782G>C (p.Gly261Ala)
NM_000170.3(GLDC):c.78G>A (p.Ser26=) rs915226152
NM_000170.3(GLDC):c.790T>C (p.Phe264Leu) rs1038444873
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.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.835C>A (p.Leu279Ile)
NM_000170.3(GLDC):c.843G>T (p.Glu281Asp) rs1563857008
NM_000170.3(GLDC):c.847G>A (p.Ala283Thr) rs386833589
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+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.861G>C (p.Gly287=) rs540315265
NM_000170.3(GLDC):c.861G>T (p.Gly287=)
NM_000170.3(GLDC):c.880A>G (p.Thr294Ala) rs1818695779
NM_000170.3(GLDC):c.885C>G (p.Asp295Glu)
NM_000170.3(GLDC):c.88T>A (p.Trp30Arg)
NM_000170.3(GLDC):c.89G>T (p.Trp30Leu)
NM_000170.3(GLDC):c.8C>A (p.Ser3Tyr)
NM_000170.3(GLDC):c.913C>A (p.Pro305Thr) rs370964168
NM_000170.3(GLDC):c.91G>T (p.Ala31Ser)
NM_000170.3(GLDC):c.925G>A (p.Gly309Arg)
NM_000170.3(GLDC):c.926G>T (p.Gly309Val)
NM_000170.3(GLDC):c.931G>A (p.Asp311Asn)
NM_000170.3(GLDC):c.937G>A (p.Ala313Thr)
NM_000170.3(GLDC):c.937G>T (p.Ala313Ser)
NM_000170.3(GLDC):c.953A>G (p.Gln318Arg)
NM_000170.3(GLDC):c.959T>C (p.Phe320Ser) rs773173613
NM_000170.3(GLDC):c.95C>T (p.Pro32Leu)
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.975C>G (p.Gly325=) rs748941890
NM_000170.3(GLDC):c.976T>C (p.Tyr326His)
NM_000170.3(GLDC):c.97C>T (p.Arg33Trp)
NM_000170.3(GLDC):c.983G>A (p.Gly328Glu)
NM_000481.4(AMT):c.1001G>T (p.Ser334Ile) rs2107929053
NM_000481.4(AMT):c.1030A>T (p.Ile344Phe) rs2049024917
NM_000481.4(AMT):c.1034-1G>C rs1575302765
NM_000481.4(AMT):c.1039G>C (p.Val347Leu)
NM_000481.4(AMT):c.1040T>C (p.Val347Ala)
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.10G>C (p.Ala4Pro) rs753829515
NM_000481.4(AMT):c.1108A>G (p.Ser370Gly)
NM_000481.4(AMT):c.1111C>T (p.Arg371Cys) rs1200405341
NM_000481.4(AMT):c.1124T>C (p.Met375Thr)
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.1155G>C (p.Gln385His)
NM_000481.4(AMT):c.1162G>A (p.Val388Ile)
NM_000481.4(AMT):c.116A>G (p.Tyr39Cys)
NM_000481.4(AMT):c.1181T>C (p.Phe394Ser)
NM_000481.4(AMT):c.1187C>T (p.Pro396Leu)
NM_000481.4(AMT):c.1198T>C (p.Tyr400His)
NM_000481.4(AMT):c.1199A>C (p.Tyr400Ser)
NM_000481.4(AMT):c.1204C>T (p.Leu402Phe)
NM_000481.4(AMT):c.1204_1206del (p.Leu402del) rs1559527384
NM_000481.4(AMT):c.1209del (p.Lys403fs) rs1553638189
NM_000481.4(AMT):c.130G>A (p.Ala44Thr) rs2049118414
NM_000481.4(AMT):c.136G>A (p.Gly46Ser)
NM_000481.4(AMT):c.13G>A (p.Val5Ile)
NM_000481.4(AMT):c.13G>C (p.Val5Leu)
NM_000481.4(AMT):c.148G>T (p.Val50Leu) rs148917929
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.175G>A (p.Val59Met)
NM_000481.4(AMT):c.184C>T (p.Arg62Trp)
NM_000481.4(AMT):c.185G>A (p.Arg62Gln)
NM_000481.4(AMT):c.188A>G (p.Asp63Gly) rs2107937495
NM_000481.4(AMT):c.189C>G (p.Asp63Glu)
NM_000481.4(AMT):c.196A>G (p.Thr66Ala) rs2049115954
NM_000481.4(AMT):c.235T>A (p.Phe79Ile)
NM_000481.4(AMT):c.241G>A (p.Val81Met)
NM_000481.4(AMT):c.242T>C (p.Val81Ala)
NM_000481.4(AMT):c.258+6C>G rs1451725049
NM_000481.4(AMT):c.259-13A>G
NM_000481.4(AMT):c.269_270delinsCC (p.Leu90Pro) rs2107936070
NM_000481.4(AMT):c.271_273del (p.Gly91del) rs2107936054
NM_000481.4(AMT):c.28C>G (p.Arg10Gly)
NM_000481.4(AMT):c.29G>C (p.Arg10Pro)
NM_000481.4(AMT):c.335A>G (p.Asn112Ser) rs2107935915
NM_000481.4(AMT):c.339+3G>A rs752570901
NM_000481.4(AMT):c.339+3G>T rs752570901
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.364G>A (p.Glu122Lys)
NM_000481.4(AMT):c.371G>A (p.Gly124Glu) rs1575306496
NM_000481.4(AMT):c.40C>T (p.Arg14Cys)
NM_000481.4(AMT):c.415C>G (p.His139Asp)
NM_000481.4(AMT):c.41G>A (p.Arg14His)
NM_000481.4(AMT):c.448G>A (p.Glu150Lys)
NM_000481.4(AMT):c.467T>C (p.Met156Thr) rs2107933555
NM_000481.4(AMT):c.512G>A (p.Gly171Asp)
NM_000481.4(AMT):c.526G>A (p.Asp176Asn)
NM_000481.4(AMT):c.533C>T (p.Ala178Val)
NM_000481.4(AMT):c.550+5G>A
NM_000481.4(AMT):c.551-18C>G
NM_000481.4(AMT):c.562G>A (p.Ala188Thr)
NM_000481.4(AMT):c.578C>G (p.Ala193Gly)
NM_000481.4(AMT):c.57_59dup (p.Pro20dup) rs386833686
NM_000481.4(AMT):c.580G>A (p.Gly194Ser)
NM_000481.4(AMT):c.614T>G (p.Met205Arg) rs2107932197
NM_000481.4(AMT):c.625G>A (p.Val209Met) rs370287514
NM_000481.4(AMT):c.62C>T (p.Ala21Val)
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.655C>T (p.Arg219Cys)
NM_000481.4(AMT):c.677C>T (p.Thr226Ile) rs2107932030
NM_000481.4(AMT):c.67T>C (p.Cys23Arg)
NM_000481.4(AMT):c.697-14G>A
NM_000481.4(AMT):c.70C>G (p.Arg24Gly)
NM_000481.4(AMT):c.70C>T (p.Arg24Cys) rs371656220
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.73C>T (p.Pro25Ser) rs751869343
NM_000481.4(AMT):c.754G>A (p.Glu252Lys)
NM_000481.4(AMT):c.77T>A (p.Leu26His)
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.822_836dup (p.Glu279_His280insAsnAspIleAspGlu)
NM_000481.4(AMT):c.830T>A (p.Ile277Asn) rs1052014497
NM_000481.4(AMT):c.841A>G (p.Thr281Ala)
NM_000481.4(AMT):c.850G>A (p.Val284Met) rs2107931384
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.878G>A (p.Gly293Glu)
NM_000481.4(AMT):c.892G>A (p.Ala298Thr) rs2049028177
NM_000481.4(AMT):c.90+4G>A rs2107938113
NM_000481.4(AMT):c.90+5G>C
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.946G>T (p.Val316Leu)
NM_000481.4(AMT):c.950A>G (p.Gln317Arg) rs146114174
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.970_972del (p.Met324del) rs386833691
NM_004483.5(GCSH):c.113T>G (p.Val38Gly) rs888630308
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.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.313A>G (p.Ser105Gly) rs747131765
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.38T>C (p.Leu13Pro) rs2151776055
NM_004483.5(GCSH):c.423T>C (p.Asp141=) rs749405278
NM_004483.5(GCSH):c.446T>C (p.Leu149Pro) rs944048995
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

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