ClinVar Miner

List of variants in gene ADSL studied for Adenylosuccinate lyase deficiency

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Gene type:
ClinVar version:
Total variants: 812
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HGVS dbSNP gnomAD frequency
NC_000022.11:g.40345499dup rs112981874 0.20978
NC_000022.11:g.40346413C>T rs909669 0.20928
NC_000022.11:g.40345636C>T rs2006965 0.20781
NC_000022.11:g.40345817G>C rs9611320 0.03404
NC_000022.11:g.40345516C>T rs751367 0.02165
NM_000026.4(ADSL):c.358-4G>A rs113199851 0.01800
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991 0.01397
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415 0.00938
NC_000022.11:g.40345588A>G rs3044499 0.00792
NC_000022.11:g.40345889C>T rs185968430 0.00234
NC_000022.11:g.40346058C>T rs79742008 0.00218
NM_000026.4(ADSL):c.1010+18A>G rs201019280 0.00157
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser) rs148411623 0.00155
NM_000026.4(ADSL):c.880T>C (p.Tyr294His) rs8192461 0.00121
NM_000026.4(ADSL):c.216C>T (p.Ile72=) rs145786986 0.00110
NM_000026.4(ADSL):c.895A>G (p.Met299Val) rs34396910 0.00085
NC_000022.11:g.40345988G>C rs576999610 0.00081
NM_000026.4(ADSL):c.403-4G>A rs373652667 0.00064
NC_000022.11:g.40346167C>T rs561082270 0.00059
NC_000022.11:g.40345568C>A rs1358901512 0.00053
NM_000026.4(ADSL):c.27G>T (p.Ser9=) rs146873132 0.00046
NM_000026.4(ADSL):c.1191+9C>T rs371706528 0.00044
NM_000026.4(ADSL):c.702-7T>C rs201509960 0.00044
NM_000026.4(ADSL):c.270T>C (p.Ala90=) rs143275316 0.00039
NM_000026.4(ADSL):c.363G>A (p.Leu121=) rs138203195 0.00036
NC_000022.11:g.40346253G>A rs912673794 0.00031
NC_000022.11:g.40346117_40346119del rs1357927044 0.00027
NM_000026.4(ADSL):c.649C>G (p.His217Asp) rs199761158 0.00024
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941 0.00023
NC_000022.11:g.40345598C>G rs941360483 0.00020
NM_000026.4(ADSL):c.1115G>A (p.Arg372His) rs150228971 0.00019
NM_000026.4(ADSL):c.1191+5G>C rs773404017 0.00019
NM_000026.4(ADSL):c.357+7G>A rs199993991 0.00019
NM_000026.4(ADSL):c.*45A>T rs180726920 0.00017
NM_000026.4(ADSL):c.16G>C (p.Asp6His) rs140064577 0.00016
NC_000022.11:g.40346158del rs528311466 0.00015
NM_000026.4(ADSL):c.-23C>T rs201625622 0.00015
NM_000026.4(ADSL):c.357+6C>T rs181628906 0.00015
NC_000022.11:g.40345958C>T rs558615182 0.00014
NC_000022.11:g.40345513A>C rs988634184 0.00013
NC_000022.11:g.40346495C>A rs576843830 0.00013
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys) rs780425464 0.00013
NM_000026.4(ADSL):c.735A>T (p.Arg245=) rs143977255 0.00013
NM_000026.4(ADSL):c.-37C>G rs372357778 0.00012
NC_000022.11:g.40345587A>G rs9607708 0.00011
NC_000022.11:g.40346371G>C rs777987980 0.00011
NC_000022.11:g.40346412G>C rs973872264 0.00011
NM_000026.4(ADSL):c.482+9T>C rs770663865 0.00011
NC_000022.11:g.40345530C>T rs753742645 0.00010
NC_000022.11:g.40346049T>C rs562792922 0.00010
NM_000026.4(ADSL):c.1102-16G>A rs200428249 0.00010
NC_000022.11:g.40346141T>A rs1261528478 0.00009
NC_000022.11:g.40346381A>C rs771316335 0.00009
NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr) rs200814886 0.00009
NM_000026.4(ADSL):c.340T>C (p.Tyr114His) rs374259530 0.00009
NM_000026.4(ADSL):c.567C>T (p.Val189=) rs765353500 0.00008
NC_000022.11:g.40346143T>C rs978591450 0.00007
NC_000022.11:g.40346247A>G rs1283422769 0.00007
NM_000026.4(ADSL):c.1112G>A (p.Arg371Gln) rs192303222 0.00007
NC_000022.11:g.40345639T>C rs528540026 0.00006
NC_000022.11:g.40346449G>C rs554145337 0.00006
NM_000026.4(ADSL):c.1016T>A (p.Ile339Asn) rs772974251 0.00006
NM_000026.4(ADSL):c.32A>T (p.Asp11Val) rs368501116 0.00006
NM_000026.4(ADSL):c.569G>A (p.Arg190Gln) rs28941471 0.00006
NM_000026.4(ADSL):c.576C>A (p.Asp192Glu) rs754005223 0.00006
NM_000026.4(ADSL):c.792+6T>C rs768892416 0.00006
NM_000026.4(ADSL):c.925C>T (p.Arg309Cys) rs376357524 0.00006
NC_000022.11:g.40345742T>A rs557264711 0.00005
NC_000022.11:g.40345994G>C rs1032678851 0.00005
NM_000026.4(ADSL):c.1060A>G (p.Thr354Ala) rs75953451 0.00005
NM_000026.4(ADSL):c.1089C>T (p.Val363=) rs368373129 0.00005
NM_000026.4(ADSL):c.1102-18C>G rs764157832 0.00005
NM_000026.4(ADSL):c.1192-5C>T rs563441974 0.00005
NM_000026.4(ADSL):c.856C>G (p.Gln286Glu) rs376912453 0.00005
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys) rs373458753 0.00005
NC_000022.11:g.40345595G>T rs905746040 0.00004
NC_000022.11:g.40345634T>C rs897270801 0.00004
NC_000022.11:g.40345661C>T rs891295346 0.00004
NC_000022.11:g.40345873G>A rs146387429 0.00004
NC_000022.11:g.40345972A>G rs898010972 0.00004
NC_000022.11:g.40346027G>A rs544400231 0.00004
NM_000026.4(ADSL):c.1011-9G>C rs780794164 0.00004
NM_000026.4(ADSL):c.1102-4A>G rs371780382 0.00004
NM_000026.4(ADSL):c.1121G>A (p.Arg374Gln) rs568567422 0.00004
NM_000026.4(ADSL):c.1262A>G (p.Asn421Ser) rs145750778 0.00004
NM_000026.4(ADSL):c.1279A>G (p.Ile427Val) rs758241731 0.00004
NM_000026.4(ADSL):c.1355G>A (p.Arg452His) rs775671027 0.00004
NM_000026.4(ADSL):c.153+7G>A rs376477242 0.00004
NM_000026.4(ADSL):c.245A>G (p.Lys82Arg) rs776685935 0.00004
NM_000026.4(ADSL):c.408C>T (p.Ala136=) rs368166273 0.00004
NM_000026.4(ADSL):c.734G>A (p.Arg245Gln) rs374047157 0.00004
NM_000026.4(ADSL):c.801C>T (p.Thr267=) rs369069575 0.00004
NM_000026.4(ADSL):c.886C>T (p.Arg296Trp) rs536254357 0.00004
NC_000022.11:g.40345484A>C rs1386684080 0.00003
NC_000022.11:g.40345601C>G rs1364287314 0.00003
NC_000022.11:g.40345635T>C rs1380960379 0.00003
NC_000022.11:g.40345716C>T rs978423465 0.00003
NC_000022.11:g.40346063C>T rs927109163 0.00003
NC_000022.11:g.40346104C>G rs1293829192 0.00003
NC_000022.11:g.40346228C>G rs1426828844 0.00003
NC_000022.11:g.40346390G>A rs1335905004 0.00003
NC_000022.11:g.40346401G>T rs1001687278 0.00003
NC_000022.11:g.40346450C>T rs566390881 0.00003
NC_000022.11:g.40346456C>G rs533768359 0.00003
NC_000022.11:g.40346478G>C rs936856129 0.00003
NM_000026.4(ADSL):c.-11G>T rs200713871 0.00003
NM_000026.4(ADSL):c.-12C>T rs775388314 0.00003
NM_000026.4(ADSL):c.11G>T (p.Gly4Val) rs766546584 0.00003
NM_000026.4(ADSL):c.1337C>A (p.Pro446His) rs755964863 0.00003
NM_000026.4(ADSL):c.1422C>T (p.Ser474=) rs748593655 0.00003
NM_000026.4(ADSL):c.153G>A (p.Gln51=) rs1214023402 0.00003
NM_000026.4(ADSL):c.224A>G (p.Lys75Arg) rs772345709 0.00003
NM_000026.4(ADSL):c.225G>A (p.Lys75=) rs887502738 0.00003
NM_000026.4(ADSL):c.254G>A (p.Arg85Gln) rs540648461 0.00003
NM_000026.4(ADSL):c.273C>T (p.His91=) rs148303726 0.00003
NM_000026.4(ADSL):c.357+15_357+22dup rs1208829201 0.00003
NM_000026.4(ADSL):c.40C>T (p.Arg14Cys) rs766465184 0.00003
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu) rs119450944 0.00003
NM_000026.4(ADSL):c.763C>T (p.Leu255=) rs771049726 0.00003
NM_000026.4(ADSL):c.870T>C (p.Ser290=) rs146890981 0.00003
NC_000022.11:g.40345517T>C rs896057121 0.00002
NC_000022.11:g.40345573T>C rs1224954877 0.00002
NC_000022.11:g.40345686A>G rs866097692 0.00002
NC_000022.11:g.40345860G>A rs941244584 0.00002
NC_000022.11:g.40346060T>C rs998527385 0.00002
NC_000022.11:g.40346222C>T rs546822350 0.00002
NC_000022.11:g.40346240T>C rs752718206 0.00002
NC_000022.11:g.40346287G>A rs972753167 0.00002
NC_000022.11:g.40346323C>A rs756420450 0.00002
NC_000022.11:g.40346408C>A rs962543409 0.00002
NC_000022.11:g.40346417C>T rs951357741 0.00002
NC_000022.11:g.40346436C>T rs930904501 0.00002
NM_000026.4(ADSL):c.-21T>A rs183190870 0.00002
NM_000026.4(ADSL):c.-49T>C rs1272053459 0.00002
NM_000026.4(ADSL):c.1053A>G (p.Ile351Met) rs151095874 0.00002
NM_000026.4(ADSL):c.1061C>T (p.Thr354Met) rs752238667 0.00002
NM_000026.4(ADSL):c.1102-17C>T rs754015340 0.00002
NM_000026.4(ADSL):c.114A>G (p.Thr38=) rs377588571 0.00002
NM_000026.4(ADSL):c.1200T>C (p.His400=) rs751401941 0.00002
NM_000026.4(ADSL):c.1212A>C (p.Arg404Ser) rs781253590 0.00002
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr) rs119450943 0.00002
NM_000026.4(ADSL):c.129G>C (p.Trp43Cys) rs770916318 0.00002
NM_000026.4(ADSL):c.262G>T (p.Val88Leu) rs1329100297 0.00002
NM_000026.4(ADSL):c.421C>T (p.Arg141Trp) rs756210458 0.00002
NM_000026.4(ADSL):c.541A>G (p.Met181Val) rs768542145 0.00002
NM_000026.4(ADSL):c.623T>A (p.Phe208Tyr) rs776615568 0.00002
NM_000026.4(ADSL):c.639G>T (p.Glu213Asp) rs376751756 0.00002
NM_000026.4(ADSL):c.769A>G (p.Ser257Gly) rs775115015 0.00002
NM_000026.4(ADSL):c.793-13C>T rs1239499787 0.00002
NM_000026.4(ADSL):c.862+10G>A rs747275092 0.00002
NM_000026.4(ADSL):c.863-12T>C rs1257937304 0.00002
NM_000026.4(ADSL):c.879A>G (p.Pro293=) rs758359453 0.00002
NM_000026.4(ADSL):c.887G>A (p.Arg296Gln) rs755059672 0.00002
NM_000026.4(ADSL):c.896T>C (p.Met299Thr) rs1364564756 0.00002
NM_000026.4(ADSL):c.898C>A (p.Arg300Ser) rs369617680 0.00002
NM_000026.4(ADSL):c.985C>T (p.Arg329Cys) rs370221257 0.00002
NC_000022.11:g.40345462C>T rs925724663 0.00001
NC_000022.11:g.40345505C>G rs1162168332 0.00001
NC_000022.11:g.40345560T>C rs2044103495 0.00001
NC_000022.11:g.40345563C>T rs1014469698 0.00001
NC_000022.11:g.40345592G>C rs950048889 0.00001
NC_000022.11:g.40345596G>A rs1452350017 0.00001
NC_000022.11:g.40345597G>A rs1470349903 0.00001
NC_000022.11:g.40345624A>C rs1178062153 0.00001
NC_000022.11:g.40345643T>C rs1018230570 0.00001
NC_000022.11:g.40345669C>T rs1386791712 0.00001
NC_000022.11:g.40345697C>T rs547176744 0.00001
NC_000022.11:g.40345705A>T rs968250682 0.00001
NC_000022.11:g.40345709C>A rs1170425980 0.00001
NC_000022.11:g.40345764G>A rs2044113487 0.00001
NC_000022.11:g.40345770A>G rs1410879144 0.00001
NC_000022.11:g.40345855C>G rs1307229331 0.00001
NC_000022.11:g.40345885C>G rs868152963 0.00001
NC_000022.11:g.40345919C>T rs1316024893 0.00001
NC_000022.11:g.40345924C>T rs950362458 0.00001
NC_000022.11:g.40345927G>A rs1197880670 0.00001
NC_000022.11:g.40345930C>T rs1465866712 0.00001
NC_000022.11:g.40345933T>C rs1273326006 0.00001
NC_000022.11:g.40345934G>A rs1428135725 0.00001
NC_000022.11:g.40345954T>C rs1480513913 0.00001
NC_000022.11:g.40345997G>A rs376903282 0.00001
NC_000022.11:g.40346004G>A rs1010283787 0.00001
NC_000022.11:g.40346022C>A rs1465603644 0.00001
NC_000022.11:g.40346037dup rs1157715906 0.00001
NC_000022.11:g.40346052A>C rs529982261 0.00001
NC_000022.11:g.40346188G>C rs1399154446 0.00001
NC_000022.11:g.40346269G>A rs1258655937 0.00001
NC_000022.11:g.40346280T>A rs1301796620 0.00001
NC_000022.11:g.40346289A>G rs1601541349 0.00001
NC_000022.11:g.40346305G>A rs1039907516 0.00001
NC_000022.11:g.40346350C>T rs1049220012 0.00001
NC_000022.11:g.40346353G>A rs1273594576 0.00001
NC_000022.11:g.40346360G>A rs1379918231 0.00001
NC_000022.11:g.40346377A>C rs749450413 0.00001
NC_000022.11:g.40346386T>A rs1469357773 0.00001
NC_000022.11:g.40346400C>A rs376911964 0.00001
NC_000022.11:g.40346406T>C rs1000079232 0.00001
NC_000022.11:g.40346418G>C rs986851841 0.00001
NC_000022.11:g.40346420C>T rs550730836 0.00001
NC_000022.11:g.40346424G>A rs186550906 0.00001
NC_000022.11:g.40346443C>G rs1325872618 0.00001
NC_000022.11:g.40346472C>T rs1163410667 0.00001
NC_000022.11:g.40346482C>T rs1052534023 0.00001
NC_000022.11:g.40346489C>G rs949660803 0.00001
NC_000022.11:g.40346493G>A rs558397990 0.00001
NM_000026.4(ADSL):c.-31C>T rs747293932 0.00001
NM_000026.4(ADSL):c.-32C>T rs1420977984 0.00001
NM_000026.4(ADSL):c.-44C>G rs763900902 0.00001
NM_000026.4(ADSL):c.-51G>A rs2044142037 0.00001
NM_000026.4(ADSL):c.-56T>A rs1338979561 0.00001
NM_000026.4(ADSL):c.1011-13A>G rs768058696 0.00001
NM_000026.4(ADSL):c.1011-18T>C rs779350776 0.00001
NM_000026.4(ADSL):c.101A>G (p.Tyr34Cys) rs780994144 0.00001
NM_000026.4(ADSL):c.1027G>A (p.Glu343Lys) rs774159147 0.00001
NM_000026.4(ADSL):c.1029G>A (p.Glu343=) rs759459022 0.00001
NM_000026.4(ADSL):c.1041C>T (p.Thr347=) rs767608764 0.00001
NM_000026.4(ADSL):c.1042G>A (p.Ala348Thr) rs752735865 0.00001
NM_000026.4(ADSL):c.1062G>A (p.Thr354=) rs757634112 0.00001
NM_000026.4(ADSL):c.1071C>T (p.Asn357=) rs1455722783 0.00001
NM_000026.4(ADSL):c.1080A>G (p.Glu360=) rs1261988894 0.00001
NM_000026.4(ADSL):c.1088T>C (p.Val363Ala) rs758895348 0.00001
NM_000026.4(ADSL):c.1090G>A (p.Val364Met) rs370851726 0.00001
NM_000026.4(ADSL):c.1092G>A (p.Val364=) rs1303477707 0.00001
NM_000026.4(ADSL):c.1093T>C (p.Tyr365His) rs1395622939 0.00001
NM_000026.4(ADSL):c.1102-12C>G rs746879273 0.00001
NM_000026.4(ADSL):c.1102-14A>G rs1174909235 0.00001
NM_000026.4(ADSL):c.1102-15dup rs1413779867 0.00001
NM_000026.4(ADSL):c.1102-6C>G rs758666194 0.00001
NM_000026.4(ADSL):c.1102-7C>T rs1001524766 0.00001
NM_000026.4(ADSL):c.1105A>C (p.Ile369Leu) rs752104617 0.00001
NM_000026.4(ADSL):c.1106T>C (p.Ile369Thr) rs755688868 0.00001
NM_000026.4(ADSL):c.1114C>A (p.Arg372Ser) rs778401578 0.00001
NM_000026.4(ADSL):c.1120C>T (p.Arg374Trp) rs376533026 0.00001
NM_000026.4(ADSL):c.1128G>C (p.Glu376Asp) rs796052247 0.00001
NM_000026.4(ADSL):c.1138A>G (p.Met380Val) rs368160421 0.00001
NM_000026.4(ADSL):c.1145C>T (p.Thr382Ile) rs2044914041 0.00001
NM_000026.4(ADSL):c.1159A>G (p.Met387Val) rs1264910912 0.00001
NM_000026.4(ADSL):c.1167G>A (p.Met389Ile) rs766782678 0.00001
NM_000026.4(ADSL):c.1186C>T (p.Arg396Cys) rs755492501 0.00001
NM_000026.4(ADSL):c.1187G>A (p.Arg396His) rs763542069 0.00001
NM_000026.4(ADSL):c.1191+11C>A rs1057523739 0.00001
NM_000026.4(ADSL):c.1191+8A>T rs1288865818 0.00001
NM_000026.4(ADSL):c.1192-20A>C rs756859090 0.00001
NM_000026.4(ADSL):c.1231G>A (p.Ala411Thr) rs1196254689 0.00001
NM_000026.4(ADSL):c.1235C>T (p.Ser412Phe) rs571597579 0.00001
NM_000026.4(ADSL):c.1252G>C (p.Gly418Arg) rs372650859 0.00001
NM_000026.4(ADSL):c.1256G>T (p.Gly419Val) rs886057505 0.00001
NM_000026.4(ADSL):c.1261_1263del (p.Asn421del) rs778107338 0.00001
NM_000026.4(ADSL):c.1276C>T (p.Arg426Cys) rs796052248 0.00001
NM_000026.4(ADSL):c.1288G>A (p.Asp430Asn) rs554254383 0.00001
NM_000026.4(ADSL):c.1295A>G (p.Tyr432Cys) rs754803189 0.00001
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro) rs777821034 0.00001
NM_000026.4(ADSL):c.1340C>T (p.Ser447Phe) rs749427506 0.00001
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) rs771121666 0.00001
NM_000026.4(ADSL):c.1349C>G (p.Thr450Ser) rs372895468 0.00001
NM_000026.4(ADSL):c.1350T>C (p.Thr450=) rs200300396 0.00001
NM_000026.4(ADSL):c.1354C>G (p.Arg452Gly) rs572438339 0.00001
NM_000026.4(ADSL):c.1368+10C>T rs1330219053 0.00001
NM_000026.4(ADSL):c.1369-17T>C rs758511561 0.00001
NM_000026.4(ADSL):c.1371dup (p.Gln458fs) rs1306829273 0.00001
NM_000026.4(ADSL):c.1416T>C (p.Tyr472=) rs777123162 0.00001
NM_000026.4(ADSL):c.1439C>G (p.Ala480Gly) rs796052250 0.00001
NM_000026.4(ADSL):c.146C>T (p.Ala49Val) rs752938873 0.00001
NM_000026.4(ADSL):c.153+17T>C rs369553804 0.00001
NM_000026.4(ADSL):c.15C>A (p.Gly5=) rs751781160 0.00001
NM_000026.4(ADSL):c.205C>G (p.Leu69Val) rs200169254 0.00001
NM_000026.4(ADSL):c.20A>G (p.His7Arg) rs377248090 0.00001
NM_000026.4(ADSL):c.248G>A (p.Arg83His) rs765503061 0.00001
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter) rs1036185928 0.00001
NM_000026.4(ADSL):c.255A>G (p.Arg85=) rs747492297 0.00001
NM_000026.4(ADSL):c.258T>G (p.His86Gln) rs1327764464 0.00001
NM_000026.4(ADSL):c.263T>C (p.Val88Ala) rs149165656 0.00001
NM_000026.4(ADSL):c.271C>G (p.His91Asp) rs755518176 0.00001
NM_000026.4(ADSL):c.271C>T (p.His91Tyr) rs755518176 0.00001
NM_000026.4(ADSL):c.274G>A (p.Val92Met) rs763852823 0.00001
NM_000026.4(ADSL):c.282A>G (p.Thr94=) rs141408072 0.00001
NM_000026.4(ADSL):c.342T>C (p.Tyr114=) rs147017931 0.00001
NM_000026.4(ADSL):c.357+4G>A rs1230823834 0.00001
NM_000026.4(ADSL):c.358-5C>T rs769856337 0.00001
NM_000026.4(ADSL):c.366T>G (p.Ile122Met) rs2044410316 0.00001
NM_000026.4(ADSL):c.370C>A (p.Leu124Ile) rs2044410415 0.00001
NM_000026.4(ADSL):c.377A>G (p.Asn126Ser) rs771267221 0.00001
NM_000026.4(ADSL):c.403-16A>G rs2044462785 0.00001
NM_000026.4(ADSL):c.403-3T>C rs766286760 0.00001
NM_000026.4(ADSL):c.403-5T>C rs2044463628 0.00001
NM_000026.4(ADSL):c.414G>C (p.Val138=) rs752659791 0.00001
NM_000026.4(ADSL):c.417C>T (p.Ile139=) rs1250387068 0.00001
NM_000026.4(ADSL):c.429C>T (p.Ala143=) rs754065119 0.00001
NM_000026.4(ADSL):c.42C>T (p.Arg14=) rs768010749 0.00001
NM_000026.4(ADSL):c.430G>A (p.Asp144Asn) rs757413931 0.00001
NM_000026.4(ADSL):c.438T>C (p.Ala146=) rs779272702 0.00001
NM_000026.4(ADSL):c.439A>G (p.Lys147Glu) rs746180694 0.00001
NM_000026.4(ADSL):c.451A>G (p.Ser151Gly) rs147194356 0.00001
NM_000026.4(ADSL):c.464T>C (p.Leu155Ser) rs2044467047 0.00001
NM_000026.4(ADSL):c.465A>G (p.Leu155=) rs139543370 0.00001
NM_000026.4(ADSL):c.46C>T (p.Pro16Ser) rs753065207 0.00001
NM_000026.4(ADSL):c.475C>T (p.His159Tyr) rs1310213333 0.00001
NM_000026.4(ADSL):c.47C>T (p.Pro16Leu) rs541051390 0.00001
NM_000026.4(ADSL):c.480C>T (p.Phe160=) rs149276957 0.00001
NM_000026.4(ADSL):c.482+1G>C rs1341872544 0.00001
NM_000026.4(ADSL):c.482+8A>G rs886042606 0.00001
NM_000026.4(ADSL):c.482A>G (p.Gln161Arg) rs8192457 0.00001
NM_000026.4(ADSL):c.49C>T (p.Leu17Phe) rs1262658484 0.00001
NM_000026.4(ADSL):c.528T>C (p.Ile176=) rs534209963 0.00001
NM_000026.4(ADSL):c.563G>A (p.Arg188His) rs761937276 0.00001
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter) rs750614500 0.00001
NM_000026.4(ADSL):c.579G>C (p.Leu193=) rs751928831 0.00001
NM_000026.4(ADSL):c.580C>T (p.Arg194Cys) rs1465152683 0.00001
NM_000026.4(ADSL):c.586C>T (p.Arg196Trp) rs376533106 0.00001
NM_000026.4(ADSL):c.587G>A (p.Arg196Gln) rs753245184 0.00001
NM_000026.4(ADSL):c.611C>T (p.Thr204Ile) rs745524617 0.00001
NM_000026.4(ADSL):c.632T>A (p.Leu211His) rs2044669605 0.00001
NM_000026.4(ADSL):c.655-11T>G rs780906231 0.00001
NM_000026.4(ADSL):c.655-9C>G rs1334564416 0.00001
NM_000026.4(ADSL):c.701+16T>A rs372676656 0.00001
NM_000026.4(ADSL):c.701+1G>A rs546878201 0.00001
NM_000026.4(ADSL):c.701+7A>C rs2044679335 0.00001
NM_000026.4(ADSL):c.702-19C>G rs1396036308 0.00001
NM_000026.4(ADSL):c.702-2A>G rs1268264761 0.00001
NM_000026.4(ADSL):c.702-5C>G rs751224448 0.00001
NM_000026.4(ADSL):c.71C>T (p.Pro24Leu) rs1257907226 0.00001
NM_000026.4(ADSL):c.754C>T (p.Leu252=) rs1475251951 0.00001
NM_000026.4(ADSL):c.789C>T (p.His263=) rs772388333 0.00001
NM_000026.4(ADSL):c.78G>A (p.Met26Ile) rs779612414 0.00001
NM_000026.4(ADSL):c.792+15C>T rs765892983 0.00001
NM_000026.4(ADSL):c.792+8G>T rs777198113 0.00001
NM_000026.4(ADSL):c.793-11A>G rs769075937 0.00001
NM_000026.4(ADSL):c.793-4C>T rs762409643 0.00001
NM_000026.4(ADSL):c.793-5C>A rs377164829 0.00001
NM_000026.4(ADSL):c.7G>A (p.Ala3Thr) rs1389806424 0.00001
NM_000026.4(ADSL):c.802G>A (p.Asp268Asn) rs746501563 0.00001
NM_000026.4(ADSL):c.805A>G (p.Ile269Val) rs759104126 0.00001
NM_000026.4(ADSL):c.807dup (p.Arg270fs) rs774729848 0.00001
NM_000026.4(ADSL):c.808C>T (p.Arg270Cys) rs181252862 0.00001
NM_000026.4(ADSL):c.842C>G (p.Pro281Arg) rs371529148 0.00001
NM_000026.4(ADSL):c.853C>G (p.Gln285Glu) rs796052246 0.00001
NM_000026.4(ADSL):c.854A>G (p.Gln285Arg) rs2044779637 0.00001
NM_000026.4(ADSL):c.862+13T>C rs768716895 0.00001
NM_000026.4(ADSL):c.863G>C (p.Gly288Ala) rs776328750 0.00001
NM_000026.4(ADSL):c.872C>T (p.Ala291Val) rs2044788378 0.00001
NM_000026.4(ADSL):c.873G>A (p.Ala291=) rs765122847 0.00001
NM_000026.4(ADSL):c.894C>T (p.Pro298=) rs145469983 0.00001
NM_000026.4(ADSL):c.899G>A (p.Arg300His) rs864309550 0.00001
NM_000026.4(ADSL):c.908G>A (p.Arg303His) rs1235670046 0.00001
NM_000026.4(ADSL):c.926G>A (p.Arg309His) rs749817666 0.00001
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu) rs202064195 0.00001
NM_000026.4(ADSL):c.954G>A (p.Pro318=) rs774891125 0.00001
NM_000026.4(ADSL):c.986G>A (p.Arg329His) rs768203123 0.00001
NM_000026.4(ADSL):c.990A>G (p.Thr330=) rs1190910739 0.00001
NC_000022.10:g.(40757640_40758984)_(40761061_40762439)del
NC_000022.10:g.(?_40741451)_(40756516_?)del
NC_000022.10:g.(?_40742514)_(40762546_?)dup
NC_000022.10:g.(?_40749057)_(40750351_?)del
NC_000022.10:g.(?_40749057)_(40756516_?)del
NC_000022.10:g.(?_40754848)_(40762526_?)del
NC_000022.10:g.(?_40760260)_(40762546_?)del
NC_000022.11:g.(?_40346510)_(40353137_?)dup
NC_000022.11:g.(?_40346510)_(40366542_?)del
NC_000022.11:g.(?_40364256)_(40366542_?)dup
NC_000022.11:g.40345463del rs2044100923
NC_000022.11:g.40345472C>T rs1437272102
NC_000022.11:g.40345473G>A rs934394588
NC_000022.11:g.40345481C>T rs2146607081
NC_000022.11:g.40345495T>C rs2146607102
NC_000022.11:g.40345502G>A rs2044101814
NC_000022.11:g.40345505C>T rs1162168332
NC_000022.11:g.40345507A>T rs2044102028
NC_000022.11:g.40345509A>G
NC_000022.11:g.40345513A>G rs988634184
NC_000022.11:g.40345514C>T rs2044102302
NC_000022.11:g.40345544T>C rs2044103206
NC_000022.11:g.40345557A>G rs2518073624
NC_000022.11:g.40345566G>T rs2146607321
NC_000022.11:g.40345571T>G rs2518073691
NC_000022.11:g.40345588_40345589insAAAAAAAAGG rs377707583
NC_000022.11:g.40345588_40345589insAAAAAAAG rs377707583
NC_000022.11:g.40345588_40345589insAAAAAAAGG rs377707583
NC_000022.11:g.40345588_40345589insAAAAAAGG rs377707583
NC_000022.11:g.40345588_40345589insAAAAG rs377707583
NC_000022.11:g.40345588_40345589insAAG rs377707583
NC_000022.11:g.40345588_40345589insAG rs377707583
NC_000022.11:g.40345588_40345589insAGG rs377707583
NC_000022.11:g.40345589G>A rs549370926
NC_000022.11:g.40345590G>A rs897965743
NC_000022.11:g.40345590G>C rs897965743
NC_000022.11:g.40345590G>T rs897965743
NC_000022.11:g.40345591G>T rs1350358123
NC_000022.11:g.40345592G>A rs950048889
NC_000022.11:g.40345594G>C rs1044326761
NC_000022.11:g.40345596_40345597dup rs1555903152
NC_000022.11:g.40345597G>T rs1470349903
NC_000022.11:g.40345597del rs1555903152
NC_000022.11:g.40345597dup rs1555903152
NC_000022.11:g.40345600A>G rs1471151327
NC_000022.11:g.40345604G>A rs2146607753
NC_000022.11:g.40345606G>A rs2518073983
NC_000022.11:g.40345614_40345615del rs140158876
NC_000022.11:g.40345621TTTA[2] rs2044109357
NC_000022.11:g.40345622_40345627del rs2518074084
NC_000022.11:g.40345631T>C rs2146607888
NC_000022.11:g.40345635dup rs1206371108
NC_000022.11:g.40345636_40345637del rs1245724619
NC_000022.11:g.40345636_40345639del rs952409371
NC_000022.11:g.40345647dup rs113688962
NC_000022.11:g.40345651G>A rs2518074179
NC_000022.11:g.40345658T>A rs2518074200
NC_000022.11:g.40345663CT[1] rs2518074215
NC_000022.11:g.40345670G>T rs1007438066
NC_000022.11:g.40345676G>A rs1018543619
NC_000022.11:g.40345676G>C rs1018543619
NC_000022.11:g.40345683T>G rs2146608173
NC_000022.11:g.40345694G>A rs2146608187
NC_000022.11:g.40345699del rs2146608197
NC_000022.11:g.40345709C>G rs1170425980
NC_000022.11:g.40345714_40345716dup rs2518074328
NC_000022.11:g.40345723C>A rs2518074344
NC_000022.11:g.40345726G>A rs2518074353
NC_000022.11:g.40345803dup rs1165283078
NC_000022.11:g.40345805T>C rs2146608408
NC_000022.11:g.40345820del rs2146608473
NC_000022.11:g.40345822G>A rs2518074584
NC_000022.11:g.40345827C>T rs926021028
NC_000022.11:g.40345830G>C rs927256177
NC_000022.11:g.40345847C>G rs2518074684
NC_000022.11:g.40345856C>T rs2518074727
NC_000022.11:g.40345873G>C rs146387429
NC_000022.11:g.40345877G>A rs2044117851
NC_000022.11:g.40345887C>T rs897153956
NC_000022.11:g.40345895G>A rs2044118645
NC_000022.11:g.40345898_40345911del rs1441243416
NC_000022.11:g.40345905C>T rs1051195380
NC_000022.11:g.40345910G>A rs2518074903
NC_000022.11:g.40345917A>C rs2518074918
NC_000022.11:g.40345926G>A rs2518074952
NC_000022.11:g.40345931A>G rs2146609004
NC_000022.11:g.40345952G>T rs2044120214
NC_000022.11:g.40345968C>G rs742139
NC_000022.11:g.40345969_40345970del rs2146609166
NC_000022.11:g.40345971C>T rs1040260159
NC_000022.11:g.40345978C>G rs2518075142
NC_000022.11:g.40345982A>C rs2518075154
NC_000022.11:g.40345987C>A rs1048164941
NC_000022.11:g.40345993C>T rs2146609240
NC_000022.11:g.40345994G>A rs1032678851
NC_000022.11:g.40345998C>A rs2518075196
NC_000022.11:g.40345999G>C rs2146609261
NC_000022.11:g.40346011A>G rs369496059
NC_000022.11:g.40346016G>A rs1421868511
NC_000022.11:g.40346019G>A rs1024075575
NC_000022.11:g.40346019G>T rs1024075575
NC_000022.11:g.40346032_40346033del rs1359178555
NC_000022.11:g.40346039dup rs1396866470
NC_000022.11:g.40346058C>A rs79742008
NC_000022.11:g.40346065_40346067del rs2146609595
NC_000022.11:g.40346083C>G rs2518075446
NC_000022.11:g.40346089C>T rs2146609641
NC_000022.11:g.40346116C>A rs77895579
NC_000022.11:g.40346117C>T rs973987073
NC_000022.11:g.40346117_40346120del rs1240641892
NC_000022.11:g.40346135T>G rs2518075661
NC_000022.11:g.40346147T>C rs2518075754
NC_000022.11:g.40346158C>T rs2146610168
NC_000022.11:g.40346161G>C rs2518075829
NC_000022.11:g.40346165G>T rs909204
NC_000022.11:g.40346180C>G rs909205
NC_000022.11:g.40346188G>T rs1399154446
NC_000022.11:g.40346189T>G rs2146610277
NC_000022.11:g.40346200C>T rs2044130347
NC_000022.11:g.40346230C>G rs2044131436
NC_000022.11:g.40346236G>A rs2044131496
NC_000022.11:g.40346243G>A rs1051513265
NC_000022.11:g.40346245T>C rs2044131800
NC_000022.11:g.40346275G>A rs2518076140
NC_000022.11:g.40346276G>A rs540176537
NC_000022.11:g.40346283_40346292del rs1187419015
NC_000022.11:g.40346304G>A rs2518076194
NC_000022.11:g.40346313A>C rs2146610598
NC_000022.11:g.40346324G>A rs1000950960
NC_000022.11:g.40346329A>C rs2146610651
NC_000022.11:g.40346339G>A rs2146610710
NC_000022.11:g.40346357C>A rs2146610771
NC_000022.11:g.40346358T>C rs2146610772
NC_000022.11:g.40346371G>T rs777987980
NC_000022.11:g.40346374C>G rs1024378498
NC_000022.11:g.40346377A>T rs749450413
NC_000022.11:g.40346385C>A rs2518076504
NC_000022.11:g.40346389G>A rs2044136336
NC_000022.11:g.40346398A>G rs997855603
NC_000022.11:g.40346402G>A rs181976442
NC_000022.11:g.40346402G>C rs181976442
NC_000022.11:g.40346409T>C rs2146611034
NC_000022.11:g.40346418G>T rs986851841
NC_000022.11:g.40346422G>C rs2146611167
NC_000022.11:g.40346424G>T rs186550906
NC_000022.11:g.40346427C>G rs2044138563
NC_000022.11:g.40346432C>A rs190560535
NC_000022.11:g.40346432C>G rs190560535
NC_000022.11:g.40346432C>T rs190560535
NC_000022.11:g.40346433G>A rs1284184707
NC_000022.11:g.40346434C>T rs1356447188
NC_000022.11:g.40346438G>C rs1286138763
NC_000022.11:g.40346453G>C rs2518076943
NC_000022.11:g.40346456C>A rs533768359
NC_000022.11:g.40346457G>A rs2044139985
NC_000022.11:g.40346465G>A rs2518077036
NC_000022.11:g.40346473G>C rs1474801240
NC_000022.11:g.40346474C>A rs2146611525
NC_000022.11:g.40346474CCCCG[3] rs1237603952
NC_000022.11:g.40346477_40346491dup rs1415547628
NC_000022.11:g.40346482_40346491dup rs2146611569
NC_000022.11:g.40346483G>A rs892749175
NC_000022.11:g.40346484_40346493del rs2146611602
NC_000022.11:g.40346488G>A rs2146611643
NC_000022.11:g.40346489C>T rs949660803
NC_000022.11:g.40346491del rs2518077210
NC_000022.11:g.40346492T>G rs2518077241
NM_000026.2(ADSL):c.[1277G>A;994G>C]
NM_000026.4(ADSL):c.-10C>G rs1256340467
NM_000026.4(ADSL):c.-15G>A rs771578438
NM_000026.4(ADSL):c.-18C>A rs745531733
NM_000026.4(ADSL):c.-20G>T rs1601542242
NM_000026.4(ADSL):c.-27C>A rs1294310669
NM_000026.4(ADSL):c.-29G>C rs2044143205
NM_000026.4(ADSL):c.-35G>C rs750649096
NM_000026.4(ADSL):c.-35G>T rs750649096
NM_000026.4(ADSL):c.-37C>T rs372357778
NM_000026.4(ADSL):c.1005C>G (p.Ala335=) rs2518121876
NM_000026.4(ADSL):c.1008C>G (p.Asn336Lys) rs2146663691
NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter) rs761493155
NM_000026.4(ADSL):c.100T>C (p.Tyr34His) rs1434292876
NM_000026.4(ADSL):c.1010+1G>C rs1404801471
NM_000026.4(ADSL):c.1011-17G>A rs746385627
NM_000026.4(ADSL):c.1011-3T>C rs1376448837
NM_000026.4(ADSL):c.1011-5del rs1569101323
NM_000026.4(ADSL):c.1013G>T (p.Arg338Leu) rs1046009538
NM_000026.4(ADSL):c.1026C>T (p.Ala342=) rs1280553241
NM_000026.4(ADSL):c.1026del (p.Glu343fs) rs2146667709
NM_000026.4(ADSL):c.1051A>G (p.Ile351Val) rs2146667776
NM_000026.4(ADSL):c.1056G>A (p.Leu352=)
NM_000026.4(ADSL):c.1081G>A (p.Gly361Arg) rs2518124797
NM_000026.4(ADSL):c.1095C>A (p.Tyr365Ter) rs879257322
NM_000026.4(ADSL):c.1096C>G (p.Pro366Ala) rs2518124897
NM_000026.4(ADSL):c.10G>A (p.Gly4Arg) rs2146612211
NM_000026.4(ADSL):c.1101+10C>A
NM_000026.4(ADSL):c.1101+10C>T rs1274084136
NM_000026.4(ADSL):c.1101+6_1101+8del rs2146668021
NM_000026.4(ADSL):c.1102-16G>T rs200428249
NM_000026.4(ADSL):c.1102-19A>G
NM_000026.4(ADSL):c.1104A>C (p.Val368=)
NM_000026.4(ADSL):c.1111C>A (p.Arg371=)
NM_000026.4(ADSL):c.1111C>T (p.Arg371Trp) rs777359946
NM_000026.4(ADSL):c.1117A>G (p.Ile373Val) rs775475956
NM_000026.4(ADSL):c.1122G>T (p.Arg374=) rs2146671725
NM_000026.4(ADSL):c.1128G>A (p.Glu376=) rs796052247
NM_000026.4(ADSL):c.1152C>T (p.Asn384=) rs2518128629
NM_000026.4(ADSL):c.1152CAT[2] (p.Ile386del) rs1601596522
NM_000026.4(ADSL):c.1187del (p.Arg396fs) rs2044916556
NM_000026.4(ADSL):c.1191+10C>G rs974462495
NM_000026.4(ADSL):c.1191+12C>T
NM_000026.4(ADSL):c.1191+12dup rs1383604211
NM_000026.4(ADSL):c.1191+17G>A rs1160304907
NM_000026.4(ADSL):c.1192-11T>C rs2518130272
NM_000026.4(ADSL):c.1192-12C>T rs2044939294
NM_000026.4(ADSL):c.1192-20A>G rs756859090
NM_000026.4(ADSL):c.11G>C (p.Gly4Ala) rs766546584
NM_000026.4(ADSL):c.1207A>C (p.Ile403Leu) rs754714101
NM_000026.4(ADSL):c.1222C>T (p.Gln408Ter) rs747964752
NM_000026.4(ADSL):c.1226A>G (p.Gln409Arg)
NM_000026.4(ADSL):c.1240G>T (p.Val414Phe) rs2146673676
NM_000026.4(ADSL):c.1253G>A (p.Gly418Glu) rs774693972
NM_000026.4(ADSL):c.1258G>A (p.Asp420Asn) rs2044942817
NM_000026.4(ADSL):c.1266C>T (p.Asp422=) rs2518130515
NM_000026.4(ADSL):c.1269C>A (p.Leu423=) rs2146673771
NM_000026.4(ADSL):c.126G>A (p.Leu42=)
NM_000026.4(ADSL):c.1286T>C (p.Val429Ala) rs372051078
NM_000026.4(ADSL):c.1312T>C (p.Ser438Pro) rs119450940
NM_000026.4(ADSL):c.1314C>G (p.Ser438=) rs2146674013
NM_000026.4(ADSL):c.1315C>T (p.Gln439Ter) rs2044946255
NM_000026.4(ADSL):c.1317G>A (p.Gln439=) rs2518130704
NM_000026.4(ADSL):c.1318T>C (p.Leu440=) rs2044946403
NM_000026.4(ADSL):c.132G>T (p.Leu44=)
NM_000026.4(ADSL):c.1337CTT[2] (p.Ser448del) rs796052252
NM_000026.4(ADSL):c.1338T>G (p.Pro446=) rs1601598188
NM_000026.4(ADSL):c.1343C>G (p.Ser448Cys) rs1265053994
NM_000026.4(ADSL):c.1346dup (p.Thr450fs) rs2518130804
NM_000026.4(ADSL):c.1349C>T (p.Thr450Ile) rs372895468
NM_000026.4(ADSL):c.1354C>T (p.Arg452Cys) rs572438339
NM_000026.4(ADSL):c.1355G>C (p.Arg452Pro) rs775671027
NM_000026.4(ADSL):c.1358C>A (p.Ala453Asp) rs2044948939
NM_000026.4(ADSL):c.1359C>T (p.Ala453=) rs1601598300
NM_000026.4(ADSL):c.135G>A (p.Trp45Ter) rs774435749
NM_000026.4(ADSL):c.1364dup (p.Gln456fs) rs2518130905
NM_000026.4(ADSL):c.1365G>T (p.Gln455His) rs1011687452
NM_000026.4(ADSL):c.1368+14A>C rs2044950610
NM_000026.4(ADSL):c.1368+18C>T rs2518131033
NM_000026.4(ADSL):c.1368+4A>C rs2146674336
NM_000026.4(ADSL):c.1368+8del rs758319423
NM_000026.4(ADSL):c.1368G>A (p.Gln456=) rs2044949369
NM_000026.4(ADSL):c.1369-19A>G rs746127807
NM_000026.4(ADSL):c.1369-7C>G rs780296394
NM_000026.4(ADSL):c.1369G>T (p.Val457Leu) rs747385959
NM_000026.4(ADSL):c.136C>T (p.Leu46=) rs2518078366
NM_000026.4(ADSL):c.1380C>T (p.Phe460=) rs2146678362
NM_000026.4(ADSL):c.1381T>C (p.Leu461=) rs2518134026
NM_000026.4(ADSL):c.1393G>C (p.Val465Leu) rs1569104977
NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg) rs1057521071
NM_000026.4(ADSL):c.1405T>A (p.Leu469Ile) rs768999974
NM_000026.4(ADSL):c.140C>T (p.Ala47Val) rs759704594
NM_000026.4(ADSL):c.1413A>G (p.Pro471=) rs796674225
NM_000026.4(ADSL):c.1422C>G (p.Ser474Arg) rs748593655
NM_000026.4(ADSL):c.1423G>A (p.Val475Met) rs1158489609
NM_000026.4(ADSL):c.1428G>A (p.Met476Ile) rs773810168
NM_000026.4(ADSL):c.142G>A (p.Glu48Lys) rs2518078406
NM_000026.4(ADSL):c.1431_1436del (p.Val478_Lys479del) rs2518134192
NM_000026.4(ADSL):c.1443A>C (p.Glu481Asp) rs1424823421
NM_000026.4(ADSL):c.1444T>C (p.Leu482=) rs938446288
NM_000026.4(ADSL):c.1448G>A (p.Cys483Tyr) rs371242331
NM_000026.4(ADSL):c.1452G>C (p.Leu484=) rs760454890
NM_000026.4(ADSL):c.1454A>G (p.Ter485Trp) rs2045013571
NM_000026.4(ADSL):c.151C>T (p.Gln51Ter) rs1193437955
NM_000026.4(ADSL):c.153+10C>A rs751038604
NM_000026.4(ADSL):c.153+10C>G rs751038604
NM_000026.4(ADSL):c.153+12C>T rs780869214
NM_000026.4(ADSL):c.153+15G>A
NM_000026.4(ADSL):c.153+16C>G rs747783480
NM_000026.4(ADSL):c.153+18G>A rs777474271
NM_000026.4(ADSL):c.153+19A>G rs2146613300
NM_000026.4(ADSL):c.153+1G>T rs1555903969
NM_000026.4(ADSL):c.153+7G>C rs376477242
NM_000026.4(ADSL):c.154-12C>T rs2518086501
NM_000026.4(ADSL):c.154-7del rs1452778583
NM_000026.4(ADSL):c.154-9A>G rs762257005
NM_000026.4(ADSL):c.155C>A (p.Thr52Lys) rs1380095056
NM_000026.4(ADSL):c.15C>T (p.Gly5=) rs751781160
NM_000026.4(ADSL):c.161G>A (p.Gly54Asp) rs765813625
NM_000026.4(ADSL):c.173C>G (p.Thr58Arg) rs544172142
NM_000026.4(ADSL):c.175G>A (p.Asp59Asn) rs1880680031
NM_000026.4(ADSL):c.17A>T (p.Asp6Val) rs1314470860
NM_000026.4(ADSL):c.183A>C (p.Gln61His) rs1601551862
NM_000026.4(ADSL):c.187del (p.Gln63fs) rs2146622848
NM_000026.4(ADSL):c.197A>C (p.Lys66Thr) rs796052251
NM_000026.4(ADSL):c.197A>T (p.Lys66Ile) rs796052251
NM_000026.4(ADSL):c.19C>G (p.His7Asp) rs778590882
NM_000026.4(ADSL):c.216C>G (p.Ile72Met) rs145786986
NM_000026.4(ADSL):c.217G>A (p.Asp73Asn) rs745787396
NM_000026.4(ADSL):c.226A>C (p.Met76Leu) rs145306334
NM_000026.4(ADSL):c.227T>C (p.Met76Thr) rs2518086794
NM_000026.4(ADSL):c.244A>C (p.Lys82Gln) rs768958353
NM_000026.4(ADSL):c.257A>G (p.His86Arg) rs2044280567
NM_000026.4(ADSL):c.268G>A (p.Ala90Thr) rs1601552154
NM_000026.4(ADSL):c.274G>T (p.Val92Leu) rs763852823
NM_000026.4(ADSL):c.278A>G (p.His93Arg) rs2044281249
NM_000026.4(ADSL):c.28C>G (p.Pro10Ala) rs768340455
NM_000026.4(ADSL):c.298C>G (p.Pro100Ala) rs119450942
NM_000026.4(ADSL):c.304G>T (p.Ala102Ser) rs2518087134
NM_000026.4(ADSL):c.30C>G (p.Pro10=)
NM_000026.4(ADSL):c.319C>T (p.His107Tyr) rs2146623366
NM_000026.4(ADSL):c.31G>C (p.Asp11His) rs761759515
NM_000026.4(ADSL):c.328G>A (p.Ala110Thr) rs2518087183
NM_000026.4(ADSL):c.341A>C (p.Tyr114Ser) rs1035500320
NM_000026.4(ADSL):c.347G>A (p.Gly116Glu) rs768596079
NM_000026.4(ADSL):c.357+10T>G rs2146623665
NM_000026.4(ADSL):c.357+1G>A rs1275901345
NM_000026.4(ADSL):c.357+7G>C
NM_000026.4(ADSL):c.357+7G>T rs199993991
NM_000026.4(ADSL):c.357T>C (p.Thr119=) rs2146623601
NM_000026.4(ADSL):c.358-1G>C rs2146634231
NM_000026.4(ADSL):c.358-9C>T
NM_000026.4(ADSL):c.36C>A (p.Ser12Arg) rs773098808
NM_000026.4(ADSL):c.372del (p.Arg125fs) rs2518096229
NM_000026.4(ADSL):c.386A>G (p.Asp129Gly) rs2518096288
NM_000026.4(ADSL):c.393T>C (p.Leu131=) rs2518096337
NM_000026.4(ADSL):c.39C>T (p.Tyr13=) rs762989462
NM_000026.4(ADSL):c.402+12G>C rs2518096432
NM_000026.4(ADSL):c.402+15G>A
NM_000026.4(ADSL):c.402+18G>A rs753085563
NM_000026.4(ADSL):c.402+1G>T rs761551284
NM_000026.4(ADSL):c.402+6G>A rs2146634344
NM_000026.4(ADSL):c.402+8G>T
NM_000026.4(ADSL):c.403-1G>C rs2518100114
NM_000026.4(ADSL):c.403-21_403-6del rs1569091371
NM_000026.4(ADSL):c.403-7C>A rs1601565699
NM_000026.4(ADSL):c.403-7C>T rs1601565699
NM_000026.4(ADSL):c.403-7del rs2044463528
NM_000026.4(ADSL):c.407C>T (p.Ala136Val) rs1569091418
NM_000026.4(ADSL):c.414G>A (p.Val138=) rs752659791
NM_000026.4(ADSL):c.41G>T (p.Arg14Leu) rs371824098
NM_000026.4(ADSL):c.422G>C (p.Arg141Pro) rs563054392
NM_000026.4(ADSL):c.435T>C (p.Phe145=) rs2146638742
NM_000026.4(ADSL):c.445C>T (p.Arg149Ter) rs780482118
NM_000026.4(ADSL):c.446G>A (p.Arg149Gln) rs747546394
NM_000026.4(ADSL):c.449C>G (p.Ala150Gly) rs2518100296
NM_000026.4(ADSL):c.462A>G (p.Thr154=) rs963510054
NM_000026.4(ADSL):c.474A>G (p.Thr158=)
NM_000026.4(ADSL):c.482+16A>C rs921958536
NM_000026.4(ADSL):c.482+16A>T rs921958536
NM_000026.4(ADSL):c.482+17C>T
NM_000026.4(ADSL):c.482+3A>T rs2518100385
NM_000026.4(ADSL):c.483-13T>C rs1601581843
NM_000026.4(ADSL):c.483-14C>T rs369824002
NM_000026.4(ADSL):c.483-19G>A rs1272827037
NM_000026.4(ADSL):c.502G>A (p.Val168Ile) rs1385675650
NM_000026.4(ADSL):c.507G>A (p.Gly169=)
NM_000026.4(ADSL):c.511C>T (p.Arg171Cys) rs775298300
NM_000026.4(ADSL):c.512G>A (p.Arg171His)
NM_000026.4(ADSL):c.51T>A (p.Leu17=) rs2146612540
NM_000026.4(ADSL):c.527T>C (p.Ile176Thr) rs2044665392
NM_000026.4(ADSL):c.541A>T (p.Met181Leu) rs768542145
NM_000026.4(ADSL):c.543G>A (p.Met181Ile) rs2518111880
NM_000026.4(ADSL):c.54C>T (p.Ala18=)
NM_000026.4(ADSL):c.550C>T (p.Gln184Ter) rs1569096551
NM_000026.4(ADSL):c.555C>T (p.Asn185=) rs2518111932
NM_000026.4(ADSL):c.568C>G (p.Arg190Gly) rs750614500
NM_000026.4(ADSL):c.56C>T (p.Ser19Phe) rs1555903913
NM_000026.4(ADSL):c.572A>G (p.Asp191Gly) rs2518111993
NM_000026.4(ADSL):c.574G>T (p.Asp192Tyr) rs2518112006
NM_000026.4(ADSL):c.578T>C (p.Leu193Pro) rs2044667301
NM_000026.4(ADSL):c.581G>A (p.Arg194His) rs755359802
NM_000026.4(ADSL):c.587G>T (p.Arg196Leu) rs753245184
NM_000026.4(ADSL):c.590G>A (p.Gly197Glu) rs2146653850
NM_000026.4(ADSL):c.5C>T (p.Ala2Val) rs143083947
NM_000026.4(ADSL):c.608G>A (p.Gly203Asp) rs2044668344
NM_000026.4(ADSL):c.60C>T (p.Arg20=) rs2518078012
NM_000026.4(ADSL):c.611C>G (p.Thr204Ser) rs745524617
NM_000026.4(ADSL):c.617C>G (p.Ala206Gly) rs746848060
NM_000026.4(ADSL):c.618C>T (p.Ala206=) rs2518112195
NM_000026.4(ADSL):c.621T>C (p.Ser207=) rs1601582166
NM_000026.4(ADSL):c.625C>T (p.Leu209=)
NM_000026.4(ADSL):c.628C>T (p.Gln210Ter) rs1410270058
NM_000026.4(ADSL):c.62A>G (p.Tyr21Cys) rs914054348
NM_000026.4(ADSL):c.633C>G (p.Leu211=) rs1317939239
NM_000026.4(ADSL):c.636T>C (p.Phe212=)
NM_000026.4(ADSL):c.644A>G (p.Asp215Gly) rs1311483271
NM_000026.4(ADSL):c.649C>T (p.His217Tyr) rs199761158
NM_000026.4(ADSL):c.655-14C>A rs2044678141
NM_000026.4(ADSL):c.655-16G>C rs2518113034
NM_000026.4(ADSL):c.655-42_655-8del rs2146654480
NM_000026.4(ADSL):c.655G>A (p.Val219Ile) rs1555907605
NM_000026.4(ADSL):c.655G>T (p.Val219Leu) rs1555907605
NM_000026.4(ADSL):c.666del (p.Asp223fs) rs1268082439
NM_000026.4(ADSL):c.674T>C (p.Met225Thr) rs119450945
NM_000026.4(ADSL):c.684A>G (p.Glu228=) rs2146654775
NM_000026.4(ADSL):c.701+17G>A
NM_000026.4(ADSL):c.701+1G>T rs546878201
NM_000026.4(ADSL):c.701+3A>G rs2518113224
NM_000026.4(ADSL):c.702-15T>C rs2146658569
NM_000026.4(ADSL):c.702-3T>A rs1229114572
NM_000026.4(ADSL):c.702-7T>A rs201509960
NM_000026.4(ADSL):c.708C>T (p.Phe236=) rs1210367027
NM_000026.4(ADSL):c.712A>G (p.Ile238Val) rs2146658688
NM_000026.4(ADSL):c.725C>T (p.Thr242Ile) rs1601586359
NM_000026.4(ADSL):c.72G>A (p.Pro24=) rs1279175740
NM_000026.4(ADSL):c.733C>T (p.Arg245Ter) rs2146658733
NM_000026.4(ADSL):c.73G>A (p.Glu25Lys)
NM_000026.4(ADSL):c.73G>T (p.Glu25Ter)
NM_000026.4(ADSL):c.744T>C (p.Asp248=)
NM_000026.4(ADSL):c.750A>G (p.Glu250=)
NM_000026.4(ADSL):c.753_761del (p.Ser253_Leu255del) rs769288234
NM_000026.4(ADSL):c.770G>A (p.Ser257Asn) rs746114979
NM_000026.4(ADSL):c.779C>T (p.Ala260Val) rs1601586537
NM_000026.4(ADSL):c.780A>C (p.Ala260=) rs2518117046
NM_000026.4(ADSL):c.785T>C (p.Val262Ala) rs2044740915
NM_000026.4(ADSL):c.792+17T>C rs751026343
NM_000026.4(ADSL):c.792+18G>C
NM_000026.4(ADSL):c.792+5G>C rs761153103
NM_000026.4(ADSL):c.793-19A>C rs2146661765
NM_000026.4(ADSL):c.793-3C>T rs2044774129
NM_000026.4(ADSL):c.802G>C (p.Asp268His) rs746501563
NM_000026.4(ADSL):c.804C>T (p.Asp268=)
NM_000026.4(ADSL):c.809G>A (p.Arg270His) rs760189192
NM_000026.4(ADSL):c.816G>A (p.Leu272=) rs1298698634
NM_000026.4(ADSL):c.818C>T (p.Ala273Val) rs962521087
NM_000026.4(ADSL):c.820A>G (p.Asn274Asp) rs2146662052
NM_000026.4(ADSL):c.829G>T (p.Glu277Ter) rs2044777708
NM_000026.4(ADSL):c.831G>A (p.Glu277=) rs763973471
NM_000026.4(ADSL):c.832A>G (p.Met278Val) rs2044778052
NM_000026.4(ADSL):c.837G>A (p.Glu279=) rs2518120401
NM_000026.4(ADSL):c.842C>T (p.Pro281Leu) rs371529148
NM_000026.4(ADSL):c.843C>T (p.Pro281=) rs1555908183
NM_000026.4(ADSL):c.845T>C (p.Phe282Ser) rs2146662152
NM_000026.4(ADSL):c.859A>G (p.Ile287Val) rs1209918065
NM_000026.4(ADSL):c.862+14A>G rs2518120616
NM_000026.4(ADSL):c.862+9T>C rs779938201
NM_000026.4(ADSL):c.863-11T>C rs375532126
NM_000026.4(ADSL):c.863-11dup rs762247753
NM_000026.4(ADSL):c.863-18C>T rs2146662900
NM_000026.4(ADSL):c.863-20T>G rs760407114
NM_000026.4(ADSL):c.869G>A (p.Ser290Asn) rs2044788172
NM_000026.4(ADSL):c.86T>A (p.Val29Glu)
NM_000026.4(ADSL):c.885G>A (p.Lys295=) rs2044789211
NM_000026.4(ADSL):c.891T>A (p.Asn297Lys) rs2044789747
NM_000026.4(ADSL):c.898C>T (p.Arg300Cys) rs369617680
NM_000026.4(ADSL):c.8C>G (p.Ala3Gly) rs2044145822
NM_000026.4(ADSL):c.913T>G (p.Cys305Gly) rs2146663371
NM_000026.4(ADSL):c.916A>G (p.Ser306Gly) rs1006262492
NM_000026.4(ADSL):c.919C>T (p.Leu307Phe) rs2044790556
NM_000026.4(ADSL):c.944T>G (p.Val315Gly)
NM_000026.4(ADSL):c.946A>G (p.Met316Val) rs2044791557
NM_000026.4(ADSL):c.947T>C (p.Met316Thr)
NM_000026.4(ADSL):c.94G>T (p.Asp32Tyr) rs2518078176
NM_000026.4(ADSL):c.954G>C (p.Pro318=)
NM_000026.4(ADSL):c.955del (p.Leu319fs) rs1569099793
NM_000026.4(ADSL):c.962C>T (p.Thr321Ile) rs1243449413
NM_000026.4(ADSL):c.96C>T (p.Asp32=)
NM_000026.4(ADSL):c.974A>G (p.Gln325Arg) rs1484677062
NM_000026.4(ADSL):c.977G>A (p.Trp326Ter) rs2044792794
NM_000026.4(ADSL):c.978G>T (p.Trp326Cys) rs1224557562
NM_000026.4(ADSL):c.979T>C (p.Phe327Leu) rs2518121792
NM_000026.4(ADSL):c.97A>C (p.Arg33=) rs1180410315
NM_000026.4(ADSL):c.994G>C (p.Asp332His) rs776496275
NM_000026.4(ADSL):c.999T>C (p.Asp333=) rs2146663670
NM_000026.4(ADSL):c.9T>C (p.Ala3=) rs758676257

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