ClinVar Miner

List of variants studied for mucopolysaccharidosis type 3A

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1029
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.*848C>G rs709677 0.67025
NM_000199.5(SGSH):c.*840A>G rs709678 0.66962
NM_000199.5(SGSH):c.250-26C>T rs4889839 0.54568
NM_000199.5(SGSH):c.*855T>C rs1046832 0.47346
NM_000199.5(SGSH):c.*315C>T rs2071148 0.47300
NM_000199.5(SGSH):c.663+17T>C rs6565647 0.46516
NM_000199.5(SGSH):c.664-36T>C rs35087113 0.31148
NM_000199.5(SGSH):c.1367G>A (p.Arg456His) rs7503034 0.31021
NM_000199.5(SGSH):c.89-45G>A rs9900509 0.11554
NM_000199.5(SGSH):c.89-39G>A rs9900502 0.11282
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254 0.07931
NM_000199.5(SGSH):c.*833A>G rs2012452 0.07846
NM_000199.5(SGSH):c.746-4A>G rs7218267 0.04487
NM_000199.5(SGSH):c.664-50G>A rs117217614 0.03422
NM_000199.5(SGSH):c.1116G>A (p.Met372Ile) rs58786455 0.02463
NM_000199.5(SGSH):c.249+52G>A rs113672699 0.02447
NM_000199.5(SGSH):c.1182G>T (p.Met394Ile) rs34297805 0.01381
NM_000199.5(SGSH):c.*201A>T rs139066649 0.00913
NM_000199.5(SGSH):c.*415A>G rs141810727 0.00910
NM_000202.8(IDS):c.467C>A (p.Pro156Gln) rs145231211 0.00832
NM_000202.8(IDS):c.465T>A (p.Phe155Leu) rs149210251 0.00829
NM_000199.5(SGSH):c.522C>T (p.Tyr174=) rs147064455 0.00647
NM_000199.5(SGSH):c.675C>T (p.Phe225=) rs34520362 0.00580
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417 0.00488
NM_000199.5(SGSH):c.249+25G>T rs200104349 0.00372
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524 0.00372
NM_000199.5(SGSH):c.701C>G (p.Ala234Gly) rs113641837 0.00359
NM_000199.5(SGSH):c.*93A>G rs111628992 0.00267
NM_000199.5(SGSH):c.*232T>C rs113462619 0.00254
NM_000199.5(SGSH):c.411G>A (p.Ala137=) rs142557761 0.00230
NM_000199.5(SGSH):c.1283G>A (p.Arg428His) rs144862290 0.00186
NM_000199.5(SGSH):c.1337A>G (p.His446Arg) rs148876719 0.00172
NM_000199.5(SGSH):c.*657C>T rs564023302 0.00160
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala) rs144461610 0.00148
NM_000199.5(SGSH):c.641C>A (p.Ala214Asp) rs74000629 0.00143
NM_000202.8(IDS):c.825C>T (p.Asp275=) rs148038243 0.00120
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938 0.00113
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143 0.00105
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys) rs142309764 0.00103
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696 0.00097
NM_000199.5(SGSH):c.1322G>A (p.Arg441Gln) rs142599919 0.00096
NM_000199.5(SGSH):c.303C>T (p.Phe101=) rs150482611 0.00088
NM_000199.5(SGSH):c.*378G>A rs372712517 0.00083
NM_000202.8(IDS):c.336C>T (p.His112=) rs138687038 0.00073
NM_000202.8(IDS):c.884A>G (p.Lys295Arg) rs113993953 0.00072
NM_000199.5(SGSH):c.1428C>T (p.His476=) rs139460639 0.00066
NM_000202.8(IDS):c.396G>A (p.Ser132=) rs147108245 0.00063
NM_000199.5(SGSH):c.324G>A (p.Pro108=) rs147938702 0.00060
NM_000199.5(SGSH):c.507-7C>T rs200965114 0.00056
NM_000202.8(IDS):c.781C>G (p.Pro261Ala) rs141720810 0.00055
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=) rs115750405 0.00053
NM_000199.5(SGSH):c.*499C>T rs886053555 0.00051
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) rs141153056 0.00050
NM_000199.5(SGSH):c.746-16C>T rs376577518 0.00049
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=) rs146522699 0.00044
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_000202.8(IDS):c.666C>T (p.Ala222=) rs201588028 0.00036
NM_000199.5(SGSH):c.67C>T (p.Arg23Trp) rs529571746 0.00035
NM_000199.5(SGSH):c.144G>A (p.Pro48=) rs145970971 0.00034
NM_000199.5(SGSH):c.89-4G>A rs375536965 0.00032
NM_000199.5(SGSH):c.999C>T (p.Tyr333=) rs149139346 0.00030
NM_000199.5(SGSH):c.*501C>T rs377165572 0.00029
NM_000199.5(SGSH):c.6C>T (p.Ser2=) rs1043643087 0.00029
NM_000199.5(SGSH):c.1050G>A (p.Pro350=) rs373992449 0.00023
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770 0.00023
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000202.8(IDS):c.849G>C (p.Val283=) rs147374356 0.00021
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val) rs202150579 0.00020
NM_000199.5(SGSH):c.*890G>A rs111726823 0.00019
NM_000199.5(SGSH):c.570C>T (p.Tyr190=) rs149951602 0.00019
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417 0.00019
NM_000199.5(SGSH):c.676G>A (p.Val226Ile) rs145967352 0.00017
NM_000202.8(IDS):c.41G>A (p.Gly14Asp) rs373389352 0.00016
NM_000199.5(SGSH):c.276C>G (p.His92Gln) rs201478799 0.00015
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000202.8(IDS):c.445T>G (p.Ser149Ala) rs146846763 0.00015
NM_000199.4(SGSH):c.-23C>T rs533566888 0.00014
NM_000199.5(SGSH):c.19G>A (p.Ala7Thr) rs548145029 0.00013
NM_000202.8(IDS):c.103+7C>T rs369735286 0.00013
NM_000199.5(SGSH):c.534C>T (p.His178=) rs139484283 0.00012
NM_000199.5(SGSH):c.*126G>A rs546128310 0.00011
NM_000199.5(SGSH):c.1049C>T (p.Pro350Leu) rs144035603 0.00011
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000199.5(SGSH):c.663+13C>T rs760216365 0.00011
NM_000199.5(SGSH):c.*471G>A rs138717045 0.00010
NM_000199.5(SGSH):c.1062C>T (p.Ala354=) rs150750383 0.00010
NM_000199.5(SGSH):c.250-15C>T rs369082713 0.00010
NM_000199.5(SGSH):c.730G>A (p.Gly244Ser) rs773480617 0.00010
NM_000199.5(SGSH):c.964A>G (p.Ile322Val) rs151243903 0.00010
NM_000202.8(IDS):c.881G>A (p.Arg294Gln) rs782445506 0.00010
NM_000199.5(SGSH):c.1321C>T (p.Arg441Trp) rs751604358 0.00009
NM_000199.5(SGSH):c.1328G>A (p.Arg443Gln) rs377605690 0.00009
NM_000199.5(SGSH):c.1462G>A (p.Glu488Lys) rs145645179 0.00009
NM_000199.5(SGSH):c.349C>T (p.Arg117Cys) rs772732363 0.00009
NM_000199.5(SGSH):c.417G>A (p.Thr139=) rs142729872 0.00009
NM_000199.5(SGSH):c.506+9C>T rs376523398 0.00009
NM_000199.5(SGSH):c.636C>T (p.Pro212=) rs771680187 0.00009
NM_000199.5(SGSH):c.746-15G>A rs373302525 0.00009
NM_000202.8(IDS):c.1227G>A (p.Thr409=) rs201905166 0.00009
NM_000202.8(IDS):c.234T>C (p.Phe78=) rs782290556 0.00009
NM_000199.5(SGSH):c.1104C>T (p.His368=) rs111800668 0.00008
NM_000199.5(SGSH):c.155C>T (p.Ala52Val) rs758203457 0.00008
NM_000202.8(IDS):c.1144G>C (p.Asp382His) rs370125505 0.00008
NM_000202.8(IDS):c.1159G>A (p.Ala387Thr) rs376725292 0.00008
NM_000199.5(SGSH):c.355+11C>T rs529329090 0.00007
NM_000199.5(SGSH):c.720C>T (p.Tyr240=) rs367654527 0.00007
NM_000199.5(SGSH):c.781G>A (p.Gly261Ser) rs149248428 0.00007
NM_000199.5(SGSH):c.*834A>G rs1022741298 0.00006
NM_000199.5(SGSH):c.1301C>T (p.Ala434Val) rs76375023 0.00006
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) rs376787615 0.00006
NM_000199.5(SGSH):c.1364C>T (p.Pro455Leu) rs766272590 0.00006
NM_000199.5(SGSH):c.397C>A (p.Pro133Thr) rs199643693 0.00006
NM_000199.5(SGSH):c.410C>T (p.Ala137Val) rs367805575 0.00006
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908 0.00006
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu) rs570170198 0.00006
NM_000199.5(SGSH):c.840C>T (p.Ser280=) rs146904798 0.00006
NM_000202.8(IDS):c.937C>T (p.Arg313Cys) rs201048643 0.00006
NM_000199.5(SGSH):c.1359C>T (p.Thr453=) rs751980056 0.00005
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys) rs368650877 0.00005
NM_000199.5(SGSH):c.264G>A (p.Met88Ile) rs1178488696 0.00005
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891 0.00005
NM_000202.8(IDS):c.1158C>T (p.Ser386=) rs372340411 0.00005
NM_000202.8(IDS):c.717G>A (p.Gln239=) rs782087755 0.00005
NM_000202.8(IDS):c.894G>A (p.Gln298=) rs781812519 0.00005
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341 0.00005
NM_000199.5(SGSH):c.1042C>T (p.Leu348Phe) rs146494740 0.00004
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 0.00004
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) rs772311757 0.00004
NM_000199.5(SGSH):c.1134C>T (p.Ser378=) rs771257931 0.00004
NM_000199.5(SGSH):c.1135G>A (p.Val379Met) rs541847913 0.00004
NM_000199.5(SGSH):c.1241G>A (p.Arg414His) rs200320139 0.00004
NM_000199.5(SGSH):c.1253G>A (p.Gly418Asp) rs760618916 0.00004
NM_000199.5(SGSH):c.1263G>A (p.Thr421=) rs140931352 0.00004
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343 0.00004
NM_000199.5(SGSH):c.166C>T (p.Arg56Cys) rs761780038 0.00004
NM_000199.5(SGSH):c.314G>A (p.Arg105Gln) rs375058146 0.00004
NM_000199.5(SGSH):c.356-7C>T rs372328165 0.00004
NM_000199.5(SGSH):c.375C>T (p.His125=) rs774482734 0.00004
NM_000199.5(SGSH):c.663+7C>T rs372662337 0.00004
NM_000199.5(SGSH):c.792C>T (p.Asn264=) rs147962306 0.00004
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00004
NM_000199.5(SGSH):c.89-10C>T rs766929408 0.00004
NM_000199.5(SGSH):c.89C>T (p.Ala30Val) rs767227727 0.00004
NM_000199.5(SGSH):c.909A>G (p.Lys303=) rs746617014 0.00004
NM_000199.5(SGSH):c.950-13G>A rs568262258 0.00004
NM_000199.5(SGSH):c.950-16G>T rs182544870 0.00004
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754 0.00004
NM_000202.8(IDS):c.449C>T (p.Pro150Leu) rs1406337035 0.00004
NM_000202.8(IDS):c.760G>A (p.Glu254Lys) rs374066256 0.00004
NM_000199.5(SGSH):c.*309G>A rs566654466 0.00003
NM_000199.5(SGSH):c.*459C>T rs532130517 0.00003
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780 0.00003
NM_000199.5(SGSH):c.117G>A (p.Ala39=) rs201132655 0.00003
NM_000199.5(SGSH):c.1197C>T (p.Asp399=) rs371397297 0.00003
NM_000199.5(SGSH):c.1303C>T (p.Arg435Cys) rs373496399 0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000199.5(SGSH):c.1361A>T (p.Asp454Val) rs145490072 0.00003
NM_000199.5(SGSH):c.1365G>A (p.Pro455=) rs750709138 0.00003
NM_000199.5(SGSH):c.1456G>A (p.Val486Ile) rs764585957 0.00003
NM_000199.5(SGSH):c.250-10T>C rs771639203 0.00003
NM_000199.5(SGSH):c.391G>A (p.Val131Met) rs370636303 0.00003
NM_000199.5(SGSH):c.585G>C (p.Glu195Asp) rs756193095 0.00003
NM_000199.5(SGSH):c.633C>A (p.Thr211=) rs187147954 0.00003
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913 0.00003
NM_000199.5(SGSH):c.745+9G>A rs559165082 0.00003
NM_000199.5(SGSH):c.88+9C>G rs750932804 0.00003
NM_000199.5(SGSH):c.936C>T (p.Tyr312=) rs147716878 0.00003
NM_000199.5(SGSH):c.950-65C>T rs537972451 0.00003
NM_000199.5(SGSH):c.987G>A (p.Pro329=) rs752176531 0.00003
NM_000202.8(IDS):c.1100C>T (p.Thr367Met) rs782588855 0.00003
NM_000202.8(IDS):c.1270G>A (p.Val424Ile) rs373820890 0.00003
NM_000202.8(IDS):c.684A>G (p.Pro228=) rs782561677 0.00003
NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter) rs35878526 0.00003
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe) rs780239925 0.00002
NM_000199.5(SGSH):c.1053G>A (p.Ala351=) rs757723989 0.00002
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys) rs764057581 0.00002
NM_000199.5(SGSH):c.1194C>T (p.Ile398=) rs759758209 0.00002
NM_000199.5(SGSH):c.1259C>T (p.Pro420Leu) rs150222010 0.00002
NM_000199.5(SGSH):c.1325G>A (p.Ser442Asn) rs1047935424 0.00002
NM_000199.5(SGSH):c.135C>T (p.Ile45=) rs775770560 0.00002
NM_000199.5(SGSH):c.136G>A (p.Ala46Thr) rs772636496 0.00002
NM_000199.5(SGSH):c.1371T>C (p.Phe457=) rs867660906 0.00002
NM_000199.5(SGSH):c.1440G>A (p.Val480=) rs769459888 0.00002
NM_000199.5(SGSH):c.153C>T (p.Asp51=) rs372226239 0.00002
NM_000199.5(SGSH):c.249+16C>T rs575584322 0.00002
NM_000199.5(SGSH):c.249+19G>A rs372274963 0.00002
NM_000199.5(SGSH):c.301T>C (p.Phe101Leu) rs1322090067 0.00002
NM_000199.5(SGSH):c.355+12G>A rs376088400 0.00002
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612 0.00002
NM_000199.5(SGSH):c.37C>T (p.Leu13=) rs1412578109 0.00002
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu) rs104894642 0.00002
NM_000199.5(SGSH):c.399G>A (p.Pro133=) rs752056541 0.00002
NM_000199.5(SGSH):c.478C>T (p.Arg160Trp) rs189571889 0.00002
NM_000199.5(SGSH):c.506+10G>A rs549782167 0.00002
NM_000199.5(SGSH):c.527C>A (p.Ala176Asp) rs760996554 0.00002
NM_000199.5(SGSH):c.537C>T (p.Asp179=) rs771440037 0.00002
NM_000199.5(SGSH):c.574A>G (p.Thr192Ala) rs764278674 0.00002
NM_000199.5(SGSH):c.657C>T (p.Asp219=) rs756315850 0.00002
NM_000199.5(SGSH):c.65C>T (p.Pro22Leu) rs1212600929 0.00002
NM_000199.5(SGSH):c.663+8G>A rs773765512 0.00002
NM_000199.5(SGSH):c.683A>G (p.Asn228Ser) rs771177142 0.00002
NM_000199.5(SGSH):c.689C>T (p.Pro230Leu) rs748671633 0.00002
NM_000199.5(SGSH):c.698G>A (p.Arg233Gln) rs370291256 0.00002
NM_000199.5(SGSH):c.727G>A (p.Val243Ile) rs770944322 0.00002
NM_000199.5(SGSH):c.745+17G>A rs778580350 0.00002
NM_000199.5(SGSH):c.950-11G>A rs374872971 0.00002
NM_000202.8(IDS):c.1478G>A (p.Arg493His) rs782347729 0.00002
NM_000202.8(IDS):c.1642T>C (p.Leu548=) rs1557337560 0.00002
NM_000199.5(SGSH):c.*1098G>A rs886053551 0.00001
NM_000199.5(SGSH):c.*369C>T rs886053557 0.00001
NM_000199.5(SGSH):c.*506C>T rs1011435930 0.00001
NM_000199.5(SGSH):c.*994G>A rs929179426 0.00001
NM_000199.5(SGSH):c.1035C>T (p.Gly345=) rs748069998 0.00001
NM_000199.5(SGSH):c.1037G>A (p.Arg346Gln) rs367883023 0.00001
NM_000199.5(SGSH):c.1052C>T (p.Ala351Val) rs139075692 0.00001
NM_000199.5(SGSH):c.1080C>T (p.Thr360=) rs766102096 0.00001
NM_000199.5(SGSH):c.1093C>T (p.Gln365Ter) rs1459579613 0.00001
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640 0.00001
NM_000199.5(SGSH):c.1108G>A (p.Val370Ile) rs201061563 0.00001
NM_000199.5(SGSH):c.1135del (p.Val379fs) rs777956287 0.00001
NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter) rs1424242431 0.00001
NM_000199.5(SGSH):c.1145G>A (p.Arg382Gln) rs779661554 0.00001
NM_000199.5(SGSH):c.1147C>A (p.His383Asn) rs922205597 0.00001
NM_000199.5(SGSH):c.114C>T (p.Gly38=) rs2041924510 0.00001
NM_000199.5(SGSH):c.1154G>A (p.Arg385His) rs944844493 0.00001
NM_000199.5(SGSH):c.1158C>T (p.Leu386=) rs765011477 0.00001
NM_000199.5(SGSH):c.115G>A (p.Ala39Thr) rs773137508 0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214 0.00001
NM_000199.5(SGSH):c.1176C>T (p.Phe392=) rs1286662072 0.00001
NM_000199.5(SGSH):c.1185C>T (p.Pro395=) rs1249459941 0.00001
NM_000199.5(SGSH):c.1190C>T (p.Pro397Leu) rs772080776 0.00001
NM_000199.5(SGSH):c.1210G>A (p.Val404Ile) rs191465934 0.00001
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter) rs1323958195 0.00001
NM_000199.5(SGSH):c.1229A>G (p.Asp410Gly) rs748612821 0.00001
NM_000199.5(SGSH):c.122A>G (p.Asn41Ser) rs2041923714 0.00001
NM_000199.5(SGSH):c.1240C>T (p.Arg414Cys) rs1354462020 0.00001
NM_000199.5(SGSH):c.1244C>G (p.Thr415Ser) rs778602791 0.00001
NM_000199.5(SGSH):c.1262C>T (p.Thr421Met) rs767649680 0.00001
NM_000199.5(SGSH):c.1270T>C (p.Tyr424His) rs766657191 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000199.5(SGSH):c.129C>T (p.Ser43=) rs747247188 0.00001
NM_000199.5(SGSH):c.1304G>A (p.Arg435His) rs370528435 0.00001
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr) rs1057521146 0.00001
NM_000199.5(SGSH):c.1311G>A (p.Glu437=) rs995838952 0.00001
NM_000199.5(SGSH):c.1323G>C (p.Arg441=) rs202209795 0.00001
NM_000199.5(SGSH):c.1356C>T (p.Ala452=) rs2041601835 0.00001
NM_000199.5(SGSH):c.1393C>T (p.Arg465Trp) rs754273400 0.00001
NM_000199.5(SGSH):c.1404G>A (p.Leu468=) rs368952369 0.00001
NM_000199.5(SGSH):c.1419G>C (p.Trp473Cys) rs1453217230 0.00001
NM_000199.5(SGSH):c.1429G>A (p.Asp477Asn) rs1064795109 0.00001
NM_000199.5(SGSH):c.1429del (p.Asp477fs) rs781572815 0.00001
NM_000199.5(SGSH):c.1443C>T (p.Cys481=) rs747742566 0.00001
NM_000199.5(SGSH):c.1444G>A (p.Ala482Thr) rs780969693 0.00001
NM_000199.5(SGSH):c.1445C>T (p.Ala482Val) rs376296818 0.00001
NM_000199.5(SGSH):c.1452C>T (p.Asp484=) rs763360021 0.00001
NM_000199.5(SGSH):c.1453G>A (p.Gly485Ser) rs779083605 0.00001
NM_000199.5(SGSH):c.1455C>T (p.Gly485=) rs757563981 0.00001
NM_000199.5(SGSH):c.1458C>T (p.Val486=) rs1458442935 0.00001
NM_000199.5(SGSH):c.1500T>C (p.Asn500=) rs771923742 0.00001
NM_000199.5(SGSH):c.189C>G (p.Ala63=) rs760006618 0.00001
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189 0.00001
NM_000199.5(SGSH):c.223G>A (p.Ala75Thr) rs137953179 0.00001
NM_000199.5(SGSH):c.241C>T (p.Leu81=) rs778730409 0.00001
NM_000199.5(SGSH):c.243G>T (p.Leu81=) rs543297521 0.00001
NM_000199.5(SGSH):c.249+10A>G rs1313307206 0.00001
NM_000199.5(SGSH):c.250-14G>A rs777111086 0.00001
NM_000199.5(SGSH):c.250-17T>C rs765488698 0.00001
NM_000199.5(SGSH):c.258T>C (p.Asn86=) rs1425717342 0.00001
NM_000199.5(SGSH):c.267C>T (p.Tyr89=) rs1479456289 0.00001
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg) rs774010006 0.00001
NM_000199.5(SGSH):c.292T>C (p.Phe98Leu) rs777669364 0.00001
NM_000199.5(SGSH):c.297C>G (p.Asn99Lys) rs755846091 0.00001
NM_000199.5(SGSH):c.2T>C (p.Met1Thr) rs1488660868 0.00001
NM_000199.5(SGSH):c.302T>C (p.Phe101Ser) rs1211675075 0.00001
NM_000199.5(SGSH):c.309G>A (p.Lys103=) rs751641089 0.00001
NM_000199.5(SGSH):c.330G>A (p.Leu110=) rs547771707 0.00001
NM_000199.5(SGSH):c.355+9C>T rs746912493 0.00001
NM_000199.5(SGSH):c.356-12C>A rs111239087 0.00001
NM_000199.5(SGSH):c.356-6G>A rs764808311 0.00001
NM_000199.5(SGSH):c.363C>T (p.Ile121=) rs2041824137 0.00001
NM_000199.5(SGSH):c.36G>C (p.Leu12=) rs777433840 0.00001
NM_000199.5(SGSH):c.376dup (p.Val126fs) rs1555621971 0.00001
NM_000199.5(SGSH):c.384G>A (p.Pro128=) rs770944273 0.00001
NM_000199.5(SGSH):c.416C>T (p.Thr139Met) rs775112689 0.00001
NM_000199.5(SGSH):c.440A>G (p.Gln147Arg) rs1408975480 0.00001
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp) rs1479831530 0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638 0.00001
NM_000199.5(SGSH):c.468G>T (p.Lys156Asn) rs780700374 0.00001
NM_000199.5(SGSH):c.486C>T (p.Phe162=) rs371061954 0.00001
NM_000199.5(SGSH):c.503A>C (p.Asp168Ala) rs774333201 0.00001
NM_000199.5(SGSH):c.506+4T>A rs1378763987 0.00001
NM_000199.5(SGSH):c.507-10T>G rs780750001 0.00001
NM_000199.5(SGSH):c.507-10del rs756440573 0.00001
NM_000199.5(SGSH):c.507-6G>A rs751165124 0.00001
NM_000199.5(SGSH):c.523G>A (p.Val175Ile) rs753921560 0.00001
NM_000199.5(SGSH):c.525C>T (p.Val175=) rs1035928326 0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742 0.00001
NM_000199.5(SGSH):c.545G>A (p.Arg182His) rs372911015 0.00001
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr) rs1329133410 0.00001
NM_000199.5(SGSH):c.555C>T (p.His185=) rs1224820918 0.00001
NM_000199.5(SGSH):c.558C>T (p.Ser186=) rs992564098 0.00001
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) rs753666460 0.00001
NM_000199.5(SGSH):c.582T>A (p.Cys194Ter) rs1555621659 0.00001
NM_000199.5(SGSH):c.597C>T (p.Asn199=) rs753030382 0.00001
NM_000199.5(SGSH):c.606C>T (p.Ser202=) rs544509805 0.00001
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter) rs886041370 0.00001
NM_000199.5(SGSH):c.645C>T (p.Tyr215=) rs151227799 0.00001
NM_000199.5(SGSH):c.664-10C>T rs776319554 0.00001
NM_000199.5(SGSH):c.664-12C>T rs750158313 0.00001
NM_000199.5(SGSH):c.664-13C>T rs368107414 0.00001
NM_000199.5(SGSH):c.681C>A (p.Pro227=) rs2041774244 0.00001
NM_000199.5(SGSH):c.684C>T (p.Asn228=) rs562717448 0.00001
NM_000199.5(SGSH):c.688C>T (p.Pro230Ser) rs756437160 0.00001
NM_000199.5(SGSH):c.702C>T (p.Ala234=) rs1488422969 0.00001
NM_000199.5(SGSH):c.711C>T (p.Ala237=) rs1288219418 0.00001
NM_000199.5(SGSH):c.729C>T (p.Val243=) rs17854435 0.00001
NM_000199.5(SGSH):c.745+16C>T rs747468287 0.00001
NM_000199.5(SGSH):c.75A>C (p.Ala25=) rs1262969566 0.00001
NM_000199.5(SGSH):c.773G>A (p.Arg258His) rs549606472 0.00001
NM_000199.5(SGSH):c.777C>T (p.Asp259=) rs761104676 0.00001
NM_000199.5(SGSH):c.798A>G (p.Thr266=) rs199562202 0.00001
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254 0.00001
NM_000199.5(SGSH):c.813G>A (p.Thr271=) rs779676466 0.00001
NM_000199.5(SGSH):c.816C>T (p.Ser272=) rs200485062 0.00001
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417 0.00001
NM_000199.5(SGSH):c.822C>T (p.Asn274=) rs138927823 0.00001
NM_000199.5(SGSH):c.864G>A (p.Pro288=) rs573496328 0.00001
NM_000199.5(SGSH):c.88+8C>T rs75720127 0.00001
NM_000199.5(SGSH):c.886G>T (p.Val296Leu) rs1189287474 0.00001
NM_000199.5(SGSH):c.89-16C>G rs1038460314 0.00001
NM_000199.5(SGSH):c.89-16C>T rs1038460314 0.00001
NM_000199.5(SGSH):c.89-5C>T rs755694982 0.00001
NM_000199.5(SGSH):c.896C>T (p.Pro299Leu) rs776306411 0.00001
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu) rs745884647 0.00001
NM_000199.5(SGSH):c.933C>T (p.Ala311=) rs777957953 0.00001
NM_000199.5(SGSH):c.937G>T (p.Val313Leu) rs769385447 0.00001
NM_000199.5(SGSH):c.93T>C (p.Asp31=) rs982161788 0.00001
NM_000199.5(SGSH):c.942C>T (p.Ser314=) rs759810426 0.00001
NM_000199.5(SGSH):c.949+20C>T rs539024687 0.00001
NM_000199.5(SGSH):c.949+7C>T rs1358532856 0.00001
NM_000199.5(SGSH):c.950-12C>T rs1334931070 0.00001
NM_000199.5(SGSH):c.957G>A (p.Thr319=) rs780403434 0.00001
NM_000199.5(SGSH):c.96C>T (p.Asp32=) rs139850991 0.00001
NM_000199.5(SGSH):c.975G>T (p.Trp325Cys) rs201413321 0.00001
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246 0.00001
NM_000199.5(SGSH):c.98G>A (p.Gly33Glu) rs762732038 0.00001
NM_000199.5(SGSH):c.993C>T (p.Pro331=) rs934982826 0.00001
NM_000199.5(SGSH):c.996C>T (p.Ser332=) rs1452808824 0.00001
NM_000199.5(SGSH):c.997T>C (p.Tyr333His) rs924984538 0.00001
NM_000202.8(IDS):c.1123G>A (p.Glu375Lys) rs782634993 0.00001
NM_000202.8(IDS):c.1143C>T (p.Leu381=) rs781805300 0.00001
NM_000202.8(IDS):c.1184G>C (p.Arg395Thr) rs782475200 0.00001
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) rs34159654 0.00001
NC_000017.10:g.(?_78109289)_(78272338_?)dup
NC_000017.10:g.(?_78184251)_(78188957_?)del
NC_000017.10:g.(?_78184251)_(78194112_?)del
NC_000017.10:g.(?_78187951)_(78247223_?)dup
NC_000017.10:g.(?_78188394)_(78194112_?)dup
NC_000017.10:g.(?_78188510)_(78190896_?)del
NC_000017.10:g.(?_78193958)_(78194112_?)del
NC_000017.10:g.(?_78194005)_(78194112_?)del
NC_000017.10:g.(?_78194005)_(78194132_?)del
NC_000017.11:g.(?_80213794)_(80215148_?)del
NM_000199.5(SGSH):c.*1008C>T rs886053553
NM_000199.5(SGSH):c.*1078A>G rs886053552
NM_000199.5(SGSH):c.*452G>A rs886053556
NM_000199.5(SGSH):c.*69C>T rs576879796
NM_000199.5(SGSH):c.*712G>T rs1360057013
NM_000199.5(SGSH):c.*891A>G rs903251344
NM_000199.5(SGSH):c.*95A>T rs2041585066
NM_000199.5(SGSH):c.*978C>T rs886053554
NM_000199.5(SGSH):c.-12G>A rs1598772757
NM_000199.5(SGSH):c.-12GCC[5] (p.Met1_Ser2insAla) rs1555624208
NM_000199.5(SGSH):c.1000dup (p.Ala334fs)
NM_000199.5(SGSH):c.1004T>C (p.Ile335Thr)
NM_000199.5(SGSH):c.1005C>T (p.Ile335=)
NM_000199.5(SGSH):c.1008T>C (p.Phe336=) rs2144698448
NM_000199.5(SGSH):c.1011C>T (p.Gly337=)
NM_000199.5(SGSH):c.1013C>T (p.Ser338Leu)
NM_000199.5(SGSH):c.1014G>A (p.Ser338=) rs1329179099
NM_000199.5(SGSH):c.1014G>T (p.Ser338=)
NM_000199.5(SGSH):c.1015A>G (p.Lys339Glu)
NM_000199.5(SGSH):c.1020C>T (p.Thr340=)
NM_000199.5(SGSH):c.1024C>G (p.His342Asp)
NM_000199.5(SGSH):c.1027C>T (p.Leu343Phe)
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.102C>G (p.Gly34=)
NM_000199.5(SGSH):c.1036C>A (p.Arg346=)
NM_000199.5(SGSH):c.1038G>A (p.Arg346=)
NM_000199.5(SGSH):c.1041C>A (p.Ser347=)
NM_000199.5(SGSH):c.1042_1055delinsA (p.Leu348fs)
NM_000199.5(SGSH):c.1043T>C (p.Leu348Pro) rs886321925
NM_000199.5(SGSH):c.1045_1071del (p.Leu349_Leu357del) rs1555620306
NM_000199.5(SGSH):c.1053G>C (p.Ala351=) rs757723989
NM_000199.5(SGSH):c.1059G>A (p.Glu353=)
NM_000199.5(SGSH):c.1062C>A (p.Ala354=)
NM_000199.5(SGSH):c.1062C>G (p.Ala354=) rs150750383
NM_000199.5(SGSH):c.1062del (p.Glu355fs)
NM_000199.5(SGSH):c.1063G>T (p.Glu355Ter)
NM_000199.5(SGSH):c.1066C>A (p.Pro356Thr)
NM_000199.5(SGSH):c.1068C>G (p.Pro356=) rs2144696905
NM_000199.5(SGSH):c.1068C>T (p.Pro356=)
NM_000199.5(SGSH):c.1069dup (p.Leu357fs)
NM_000199.5(SGSH):c.1073G>A (p.Trp358Ter)
NM_000199.5(SGSH):c.1073G>T (p.Trp358Leu)
NM_000199.5(SGSH):c.1079C>A (p.Thr360Asn)
NM_000199.5(SGSH):c.1080C>A (p.Thr360=)
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000199.5(SGSH):c.1083C>G (p.Val361=) rs1163683351
NM_000199.5(SGSH):c.1084T>G (p.Phe362Val) rs1555620294
NM_000199.5(SGSH):c.1085_1086del (p.Phe362fs)
NM_000199.5(SGSH):c.1089C>T (p.Gly363=)
NM_000199.5(SGSH):c.108G>A (p.Glu36=)
NM_000199.5(SGSH):c.1090A>G (p.Ser364Gly) rs2144696405
NM_000199.5(SGSH):c.1091_1103del (p.Ser364fs) rs1567915763
NM_000199.5(SGSH):c.1092C>A (p.Ser364Arg) rs1428699412
NM_000199.5(SGSH):c.1095G>A (p.Gln365=) rs1567915786
NM_000199.5(SGSH):c.1097del (p.Ser366fs) rs1598738720
NM_000199.5(SGSH):c.1098C>T (p.Ser366=) rs1344726489
NM_000199.5(SGSH):c.1110C>A (p.Val370=)
NM_000199.5(SGSH):c.1110C>T (p.Val370=)
NM_000199.5(SGSH):c.111T>A (p.Ser37Arg) rs1434209913
NM_000199.5(SGSH):c.1122C>T (p.Tyr374=)
NM_000199.5(SGSH):c.1125C>T (p.Pro375=)
NM_000199.5(SGSH):c.1127T>C (p.Met376Thr) rs775729169
NM_000199.5(SGSH):c.1129C>A (p.Arg377Ser)
NM_000199.5(SGSH):c.1130G>A (p.Arg377His) rs746037899
NM_000199.5(SGSH):c.1130G>T (p.Arg377Leu) rs746037899
NM_000199.5(SGSH):c.1131C>T (p.Arg377=)
NM_000199.5(SGSH):c.1131del (p.Ser378fs)
NM_000199.5(SGSH):c.1140G>A (p.Gln380=) rs2144695233
NM_000199.5(SGSH):c.1144C>T (p.Arg382Trp)
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg) rs398123244
NM_000199.5(SGSH):c.1147del (p.His383fs) rs1598738369
NM_000199.5(SGSH):c.1149C>T (p.His383=) rs1312597739
NM_000199.5(SGSH):c.1152C>T (p.Phe384=)
NM_000199.5(SGSH):c.1153C>T (p.Arg385Cys)
NM_000199.5(SGSH):c.1153del (p.Arg385fs) rs2041615714
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.1159G>C (p.Val387Leu)
NM_000199.5(SGSH):c.1159G>T (p.Val387Leu) rs62620232
NM_000199.5(SGSH):c.1162C>T (p.His388Tyr)
NM_000199.5(SGSH):c.116C>T (p.Ala39Val)
NM_000199.5(SGSH):c.1172A>G (p.Asn391Ser) rs2041614381
NM_000199.5(SGSH):c.1173_1178del (p.Asn391_Phe392del) rs2041613993
NM_000199.5(SGSH):c.117G>T (p.Ala39=) rs201132655
NM_000199.5(SGSH):c.1183C>T (p.Pro395Ser)
NM_000199.5(SGSH):c.1185C>G (p.Pro395=)
NM_000199.5(SGSH):c.1186T>C (p.Phe396Leu)
NM_000199.5(SGSH):c.118T>A (p.Tyr40Asn) rs1598758001
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn) rs1064794815
NM_000199.5(SGSH):c.119A>C (p.Tyr40Ser) rs1555623007
NM_000199.5(SGSH):c.119ACA[2] (p.Asn42del)
NM_000199.5(SGSH):c.11C>T (p.Pro4Leu)
NM_000199.5(SGSH):c.1208A>G (p.Tyr403Cys)
NM_000199.5(SGSH):c.120C>G (p.Tyr40Ter)
NM_000199.5(SGSH):c.120C>T (p.Tyr40=)
NM_000199.5(SGSH):c.1215A>C (p.Ser405=) rs1352657640
NM_000199.5(SGSH):c.1218C>T (p.Pro406=)
NM_000199.5(SGSH):c.1218del (p.Thr407fs)
NM_000199.5(SGSH):c.1221C>T (p.Thr407=) rs1598738043
NM_000199.5(SGSH):c.1228_1241del (p.Asp410fs)
NM_000199.5(SGSH):c.1233C>T (p.Leu411=)
NM_000199.5(SGSH):c.123C>A (p.Asn41Lys) rs1230391147
NM_000199.5(SGSH):c.1240C>G (p.Arg414Gly)
NM_000199.5(SGSH):c.1241G>T (p.Arg414Leu)
NM_000199.5(SGSH):c.1241_1242dup (p.Thr415fs) rs1484648912
NM_000199.5(SGSH):c.1241_1244dup (p.Thr416fs) rs1412408576
NM_000199.5(SGSH):c.1251T>C (p.Ala417=) rs2144692797
NM_000199.5(SGSH):c.1253G>C (p.Gly418Ala)
NM_000199.5(SGSH):c.1260del (p.Thr421fs)
NM_000199.5(SGSH):c.1263G>C (p.Thr421=) rs140931352
NM_000199.5(SGSH):c.1265dup (p.Trp423fs)
NM_000199.5(SGSH):c.1268G>A (p.Trp423Ter)
NM_000199.5(SGSH):c.1268G>C (p.Trp423Ser) rs886053559
NM_000199.5(SGSH):c.126C>T (p.Asn42=)
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) rs752914124
NM_000199.5(SGSH):c.1276del (p.Asp426fs)
NM_000199.5(SGSH):c.1278C>T (p.Asp426=)
NM_000199.5(SGSH):c.1280_1285del (p.Leu427_Arg428del) rs2144692301
NM_000199.5(SGSH):c.1282C>T (p.Arg428Cys)
NM_000199.5(SGSH):c.1284T>C (p.Arg428=)
NM_000199.5(SGSH):c.1286A>T (p.His429Leu)
NM_000199.5(SGSH):c.1286del (p.His429fs)
NM_000199.5(SGSH):c.1287_1289del (p.Tyr432del) rs1555620148
NM_000199.5(SGSH):c.1290C>A (p.Tyr430Ter)
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys) rs1567914835
NM_000199.5(SGSH):c.1299G>A (p.Arg433=)
NM_000199.5(SGSH):c.12C>A (p.Pro4=) rs921772690
NM_000199.5(SGSH):c.12C>G (p.Pro4=) rs921772690
NM_000199.5(SGSH):c.12C>T (p.Pro4=) rs921772690
NM_000199.5(SGSH):c.1304G>T (p.Arg435Leu) rs370528435
NM_000199.5(SGSH):c.1305C>T (p.Arg435=)
NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter) rs1555620141
NM_000199.5(SGSH):c.1316A>G (p.Tyr439Cys) rs900198526
NM_000199.5(SGSH):c.1317C>A (p.Tyr439Ter)
NM_000199.5(SGSH):c.1318G>A (p.Asp440Asn) rs886053558
NM_000199.5(SGSH):c.1320C>A (p.Asp440Glu)
NM_000199.5(SGSH):c.1320C>T (p.Asp440=) rs751683275
NM_000199.5(SGSH):c.1323G>A (p.Arg441=)
NM_000199.5(SGSH):c.1327C>T (p.Arg443Trp)
NM_000199.5(SGSH):c.1332C>T (p.Asp444=)
NM_000199.5(SGSH):c.1336del (p.His446fs)
NM_000199.5(SGSH):c.1338C>G (p.His446Gln) rs762208419
NM_000199.5(SGSH):c.1338C>T (p.His446=) rs762208419
NM_000199.5(SGSH):c.1340A>G (p.Glu447Gly)
NM_000199.5(SGSH):c.1341G>A (p.Glu447=)
NM_000199.5(SGSH):c.1343C>T (p.Thr448Ile) rs980620540
NM_000199.5(SGSH):c.1344C>T (p.Thr448=)
NM_000199.5(SGSH):c.1345C>T (p.Gln449Ter)
NM_000199.5(SGSH):c.1345del (p.Gln449fs) rs1466245913
NM_000199.5(SGSH):c.1356C>A (p.Ala452=) rs2041601835
NM_000199.5(SGSH):c.135C>A (p.Ile45=)
NM_000199.5(SGSH):c.1361A>G (p.Asp454Gly)
NM_000199.5(SGSH):c.1366C>T (p.Arg456Cys)
NM_000199.5(SGSH):c.1367_1368del (p.Arg456fs)
NM_000199.5(SGSH):c.1374T>C (p.Ala458=)
NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter) rs1567914459
NM_000199.5(SGSH):c.1380T>A (p.Leu460=) rs1298944219
NM_000199.5(SGSH):c.1380del (p.Leu461fs) rs1555620092
NM_000199.5(SGSH):c.1383G>A (p.Leu461=) rs2144689720
NM_000199.5(SGSH):c.1386G>A (p.Glu462=) rs2144689644
NM_000199.5(SGSH):c.1394G>A (p.Arg465Gln)
NM_000199.5(SGSH):c.1395G>A (p.Arg465=)
NM_000199.5(SGSH):c.1395G>C (p.Arg465=) rs764491308
NM_000199.5(SGSH):c.1401del (p.Gln467fs)
NM_000199.5(SGSH):c.1403T>C (p.Leu468Pro) rs2041599125
NM_000199.5(SGSH):c.140C>T (p.Thr47Ile)
NM_000199.5(SGSH):c.1410G>A (p.Lys470=) rs977948935
NM_000199.5(SGSH):c.1412G>A (p.Trp471Ter) rs2144689256
NM_000199.5(SGSH):c.1416G>C (p.Gln472His) rs1555620072
NM_000199.5(SGSH):c.1417del (p.Trp473fs)
NM_000199.5(SGSH):c.1418G>A (p.Trp473Ter)
NM_000199.5(SGSH):c.141C>A (p.Thr47=)
NM_000199.5(SGSH):c.1422G>A (p.Glu474=)
NM_000199.5(SGSH):c.1424C>G (p.Thr475Ser) rs2144689101
NM_000199.5(SGSH):c.1425C>A (p.Thr475=)
NM_000199.5(SGSH):c.1425C>G (p.Thr475=)
NM_000199.5(SGSH):c.1426del (p.His476fs) rs2041597805
NM_000199.5(SGSH):c.1431C>A (p.Asp477Glu)
NM_000199.5(SGSH):c.1431C>T (p.Asp477=)
NM_000199.5(SGSH):c.1434C>A (p.Pro478=)
NM_000199.5(SGSH):c.1434C>T (p.Pro478=)
NM_000199.5(SGSH):c.1438G>T (p.Val480Leu) rs1474556145
NM_000199.5(SGSH):c.143C>T (p.Pro48Leu)
NM_000199.5(SGSH):c.1440G>T (p.Val480=)
NM_000199.5(SGSH):c.1444G>T (p.Ala482Ser) rs780969693
NM_000199.5(SGSH):c.1445_1446insT (p.Asp484fs) rs1555620043
NM_000199.5(SGSH):c.1449C>T (p.Pro483=) rs779836312
NM_000199.5(SGSH):c.144G>T (p.Pro48=) rs145970971
NM_000199.5(SGSH):c.1450G>A (p.Asp484Asn)
NM_000199.5(SGSH):c.1455del (p.Val486fs)
NM_000199.5(SGSH):c.1456G>C (p.Val486Leu) rs764585957
NM_000199.5(SGSH):c.1458C>A (p.Val486=)
NM_000199.5(SGSH):c.1462GAG[1] (p.Glu489del) rs1252944094
NM_000199.5(SGSH):c.1467G>A (p.Glu489=) rs2144687765
NM_000199.5(SGSH):c.146A>G (p.His49Arg) rs1598757846
NM_000199.5(SGSH):c.1470G>A (p.Lys490=)
NM_000199.5(SGSH):c.1473C>G (p.Leu491=) rs1436483872
NM_000199.5(SGSH):c.1473C>T (p.Leu491=)
NM_000199.5(SGSH):c.1474T>C (p.Ser492Pro)
NM_000199.5(SGSH):c.1476T>C (p.Ser492=) rs769228670
NM_000199.5(SGSH):c.1481A>G (p.Gln494Arg) rs562445330
NM_000199.5(SGSH):c.1486C>T (p.Gln496Ter) rs1232231848
NM_000199.5(SGSH):c.148_149insAGTG (p.Leu50fs)
NM_000199.5(SGSH):c.1490C>T (p.Pro497Leu) rs1281022554
NM_000199.5(SGSH):c.1491C>T (p.Pro497=)
NM_000199.5(SGSH):c.1499A>G (p.Asn500Ser) rs779856036
NM_000199.5(SGSH):c.1503G>A (p.Glu501=)
NM_000199.5(SGSH):c.151G>A (p.Asp51Asn) rs2144782205
NM_000199.5(SGSH):c.154G>A (p.Ala52Thr) rs551094331
NM_000199.5(SGSH):c.15G>A (p.Val5=) rs1040195143
NM_000199.5(SGSH):c.15G>C (p.Val5=) rs1040195143
NM_000199.5(SGSH):c.15G>T (p.Val5=) rs1040195143
NM_000199.5(SGSH):c.164G>A (p.Arg55His)
NM_000199.5(SGSH):c.168C>G (p.Arg56=)
NM_000199.5(SGSH):c.169A>G (p.Ser57Gly)
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000199.5(SGSH):c.174C>T (p.Leu58=) rs1278899264
NM_000199.5(SGSH):c.175C>T (p.Leu59Phe) rs1555622928
NM_000199.5(SGSH):c.177C>G (p.Leu59=)
NM_000199.5(SGSH):c.178_234del (p.Phe60_Leu78del)
NM_000199.5(SGSH):c.180T>C (p.Phe60=)
NM_000199.5(SGSH):c.182G>A (p.Arg61His)
NM_000199.5(SGSH):c.182G>T (p.Arg61Leu)
NM_000199.5(SGSH):c.183C>G (p.Arg61=) rs561475181
NM_000199.5(SGSH):c.183C>T (p.Arg61=)
NM_000199.5(SGSH):c.184A>G (p.Asn62Asp)
NM_000199.5(SGSH):c.185A>G (p.Asn62Ser) rs1396883948
NM_000199.5(SGSH):c.188C>A (p.Ala63Asp)
NM_000199.5(SGSH):c.188C>T (p.Ala63Val) rs985515930
NM_000199.5(SGSH):c.189C>T (p.Ala63=)
NM_000199.5(SGSH):c.18C>T (p.Pro6=)
NM_000199.5(SGSH):c.192C>T (p.Phe64=)
NM_000199.5(SGSH):c.195C>G (p.Thr65=)
NM_000199.5(SGSH):c.195C>T (p.Thr65=) rs2144781531
NM_000199.5(SGSH):c.197C>T (p.Ser66Leu)
NM_000199.5(SGSH):c.198G>A (p.Ser66=)
NM_000199.5(SGSH):c.198G>C (p.Ser66=)
NM_000199.5(SGSH):c.198G>T (p.Ser66=) rs771397375
NM_000199.5(SGSH):c.1A>C (p.Met1Leu) rs1250300189
NM_000199.5(SGSH):c.205A>G (p.Ser69Gly)
NM_000199.5(SGSH):c.210C>T (p.Cys70=) rs2144781434
NM_000199.5(SGSH):c.211T>C (p.Ser71Pro) rs398123245
NM_000199.5(SGSH):c.216del (p.Ser73fs) rs1555622888
NM_000199.5(SGSH):c.21C>G (p.Ala7=)
NM_000199.5(SGSH):c.220C>A (p.Arg74Ser)
NM_000199.5(SGSH):c.221G>A (p.Arg74His) rs778336949
NM_000199.5(SGSH):c.221G>T (p.Arg74Leu)
NM_000199.5(SGSH):c.222C>A (p.Arg74=)
NM_000199.5(SGSH):c.222C>T (p.Arg74=) rs768056322
NM_000199.5(SGSH):c.223G>T (p.Ala75Ser)
NM_000199.5(SGSH):c.225C>T (p.Ala75=)
NM_000199.5(SGSH):c.232C>T (p.Leu78Phe)
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro) rs779703983
NM_000199.5(SGSH):c.237T>C (p.Thr79=)
NM_000199.5(SGSH):c.239G>T (p.Gly80Val)
NM_000199.5(SGSH):c.23G>A (p.Cys8Tyr) rs2144833092
NM_000199.5(SGSH):c.244C>A (p.Pro82Thr) rs1385318543
NM_000199.5(SGSH):c.244C>T (p.Pro82Ser) rs1385318543
NM_000199.5(SGSH):c.246C>G (p.Pro82=)
NM_000199.5(SGSH):c.247C>T (p.Gln83Ter)
NM_000199.5(SGSH):c.249+14G>A
NM_000199.5(SGSH):c.249+14G>T
NM_000199.5(SGSH):c.249+15G>A
NM_000199.5(SGSH):c.249+15G>T rs941020879
NM_000199.5(SGSH):c.249+17G>A
NM_000199.5(SGSH):c.249+18G>A
NM_000199.5(SGSH):c.249+19G>T rs372274963
NM_000199.5(SGSH):c.249+24G>A
NM_000199.5(SGSH):c.249+28G>A
NM_000199.5(SGSH):c.249+8G>A
NM_000199.5(SGSH):c.24C>T (p.Cys8=) rs2144833062
NM_000199.5(SGSH):c.250-13C>T
NM_000199.5(SGSH):c.250-15C>G rs369082713
NM_000199.5(SGSH):c.250-289_463del rs2144748721
NM_000199.5(SGSH):c.250-2A>G
NM_000199.5(SGSH):c.250-7C>T
NM_000199.5(SGSH):c.250-8G>T rs1043560351
NM_000199.5(SGSH):c.251A>G (p.His84Arg) rs2144755254
NM_000199.5(SGSH):c.254A>G (p.Gln85Arg)
NM_000199.5(SGSH):c.261G>A (p.Gly87=)
NM_000199.5(SGSH):c.265_269del (p.Tyr89fs) rs2041840084
NM_000199.5(SGSH):c.267C>A (p.Tyr89Ter) rs1479456289
NM_000199.5(SGSH):c.268G>C (p.Gly90Arg) rs774010006
NM_000199.5(SGSH):c.270G>A (p.Gly90=)
NM_000199.5(SGSH):c.272T>C (p.Leu91Pro) rs2144755037
NM_000199.5(SGSH):c.273G>A (p.Leu91=) rs2144755014
NM_000199.5(SGSH):c.276C>T (p.His92=)
NM_000199.5(SGSH):c.277C>T (p.Gln93Ter)
NM_000199.5(SGSH):c.278A>G (p.Gln93Arg) rs2041839563
NM_000199.5(SGSH):c.282C>T (p.Asp94=) rs748857638
NM_000199.5(SGSH):c.282_283dup (p.Val95fs) rs2144754863
NM_000199.5(SGSH):c.288C>A (p.His96Gln)
NM_000199.5(SGSH):c.288C>T (p.His96=)
NM_000199.5(SGSH):c.28_37del (p.Cys9_Ala10insTer) rs1555624111
NM_000199.5(SGSH):c.299C>A (p.Ser100Tyr)
NM_000199.5(SGSH):c.299C>T (p.Ser100Phe) rs2144754691
NM_000199.5(SGSH):c.2T>G (p.Met1Arg) rs1488660868
NM_000199.5(SGSH):c.300C>A (p.Ser100=)
NM_000199.5(SGSH):c.301_303del (p.Phe101del)
NM_000199.5(SGSH):c.303C>A (p.Phe101Leu) rs150482611
NM_000199.5(SGSH):c.304G>A (p.Asp102Asn)
NM_000199.5(SGSH):c.308A>G (p.Lys103Arg)
NM_000199.5(SGSH):c.30_31delinsTT (p.Ala10_Leu11=) rs2144832917
NM_000199.5(SGSH):c.313C>T (p.Arg105Trp)
NM_000199.5(SGSH):c.31C>T (p.Leu11=)
NM_000199.5(SGSH):c.321G>A (p.Leu107=)
NM_000199.5(SGSH):c.323C>T (p.Pro108Leu)
NM_000199.5(SGSH):c.323_331del (p.Pro108_Leu110del)
NM_000199.5(SGSH):c.324dup (p.Leu109fs)
NM_000199.5(SGSH):c.333C>T (p.Leu111=)
NM_000199.5(SGSH):c.333_335delinsTGGT (p.Ser112fs)
NM_000199.5(SGSH):c.335G>C (p.Ser112Thr) rs773947080
NM_000199.5(SGSH):c.336C>T (p.Ser112=)
NM_000199.5(SGSH):c.341_342insGCTCACC (p.Gly115fs)
NM_000199.5(SGSH):c.344G>C (p.Gly115Ala) rs770321343
NM_000199.5(SGSH):c.344G>T (p.Gly115Val)
NM_000199.5(SGSH):c.345T>C (p.Gly115=)
NM_000199.5(SGSH):c.345T>G (p.Gly115=) rs920720873
NM_000199.5(SGSH):c.348G>A (p.Val116=) rs1242737193
NM_000199.5(SGSH):c.350G>A (p.Arg117His)
NM_000199.5(SGSH):c.351C>T (p.Arg117=)
NM_000199.5(SGSH):c.355+16C>G
NM_000199.5(SGSH):c.355+16C>T
NM_000199.5(SGSH):c.355+17G>A
NM_000199.5(SGSH):c.355+20G>A
NM_000199.5(SGSH):c.356-12C>T
NM_000199.5(SGSH):c.356-14C>G
NM_000199.5(SGSH):c.356-14del
NM_000199.5(SGSH):c.356-16CT[2]
NM_000199.5(SGSH):c.356-18G>A
NM_000199.5(SGSH):c.356-18G>T
NM_000199.5(SGSH):c.356-1G>A rs1555621984
NM_000199.5(SGSH):c.356-29_380del
NM_000199.5(SGSH):c.356-2A>G rs1057517927
NM_000199.5(SGSH):c.356-3C>G rs1361176382
NM_000199.5(SGSH):c.356-5C>T rs1240953762
NM_000199.5(SGSH):c.357C>T (p.Gly119=)
NM_000199.5(SGSH):c.359_360delinsAT (p.Ile120Asn)
NM_000199.5(SGSH):c.35T>G (p.Leu12Arg)
NM_000199.5(SGSH):c.360C>T (p.Ile120=) rs1314987469
NM_000199.5(SGSH):c.364G>C (p.Gly122Arg)
NM_000199.5(SGSH):c.364G>T (p.Gly122Trp)
NM_000199.5(SGSH):c.367AAG[1] (p.Lys124del) rs1555621974
NM_000199.5(SGSH):c.36_88+420del
NM_000199.5(SGSH):c.372G>A (p.Lys124=)
NM_000199.5(SGSH):c.376G>A (p.Val126Met) rs775553760
NM_000199.5(SGSH):c.376G>C (p.Val126Leu) rs775553760
NM_000199.5(SGSH):c.378G>A (p.Val126=) rs771878830
NM_000199.5(SGSH):c.378G>T (p.Val126=)
NM_000199.5(SGSH):c.380G>A (p.Gly127Glu)
NM_000199.5(SGSH):c.381G>A (p.Gly127=) rs2144749895
NM_000199.5(SGSH):c.381del (p.Pro128fs)
NM_000199.5(SGSH):c.385G>C (p.Glu129Gln)
NM_000199.5(SGSH):c.389C>T (p.Thr130Ile)
NM_000199.5(SGSH):c.389_392del (p.Thr130fs)
NM_000199.5(SGSH):c.38T>C (p.Leu13Pro)
NM_000199.5(SGSH):c.390C>G (p.Thr130=) rs111761143
NM_000199.5(SGSH):c.391del (p.Val131fs)
NM_000199.5(SGSH):c.396C>A (p.Tyr132Ter)
NM_000199.5(SGSH):c.398C>T (p.Pro133Leu) rs781743238
NM_000199.5(SGSH):c.398del (p.Pro133fs) rs2144749648
NM_000199.5(SGSH):c.399G>C (p.Pro133=)
NM_000199.5(SGSH):c.39A>G (p.Leu13=) rs2144832681
NM_000199.5(SGSH):c.402dup (p.Asp135Ter) rs1598749984
NM_000199.5(SGSH):c.406T>A (p.Phe136Ile)
NM_000199.5(SGSH):c.408T>C (p.Phe136=)
NM_000199.5(SGSH):c.411G>C (p.Ala137=)
NM_000199.5(SGSH):c.414C>T (p.Tyr138=) rs2041820947
NM_000199.5(SGSH):c.415A>T (p.Thr139Ser) rs760564328
NM_000199.5(SGSH):c.417G>C (p.Thr139=) rs142729872
NM_000199.5(SGSH):c.418G>T (p.Glu140Ter) rs2144749282
NM_000199.5(SGSH):c.42C>T (p.Val14=) rs1598772270
NM_000199.5(SGSH):c.430T>A (p.Ser144Thr)
NM_000199.5(SGSH):c.433G>A (p.Val145Ile)
NM_000199.5(SGSH):c.435C>A (p.Val145=)
NM_000199.5(SGSH):c.435C>T (p.Val145=) rs2144749023
NM_000199.5(SGSH):c.437T>C (p.Leu146Pro) rs749358773
NM_000199.5(SGSH):c.453del (p.Asn151fs)
NM_000199.5(SGSH):c.459T>C (p.Thr153=)
NM_000199.5(SGSH):c.45G>T (p.Leu15=)
NM_000199.5(SGSH):c.466A>T (p.Lys156Ter) rs2041818115
NM_000199.5(SGSH):c.474C>G (p.Leu158=) rs75828254
NM_000199.5(SGSH):c.474C>T (p.Leu158=) rs75828254
NM_000199.5(SGSH):c.475G>A (p.Val159Ile)
NM_000199.5(SGSH):c.477C>G (p.Val159=)
NM_000199.5(SGSH):c.479G>A (p.Arg160Gln)
NM_000199.5(SGSH):c.479G>T (p.Arg160Leu)
NM_000199.5(SGSH):c.47_48del (p.Gly16fs)
NM_000199.5(SGSH):c.480G>T (p.Arg160=) rs2144748453
NM_000199.5(SGSH):c.481A>T (p.Lys161Ter)
NM_000199.5(SGSH):c.483A>G (p.Lys161=) rs2144748407
NM_000199.5(SGSH):c.48G>A (p.Gly16=) rs925785551
NM_000199.5(SGSH):c.48G>C (p.Gly16=) rs925785551
NM_000199.5(SGSH):c.48_50dup (p.Leu17dup) rs1555624091
NM_000199.5(SGSH):c.48del (p.Leu17fs)
NM_000199.5(SGSH):c.490C>T (p.Gln164Ter) rs1598749661
NM_000199.5(SGSH):c.495T>G (p.Thr165=)
NM_000199.5(SGSH):c.496C>T (p.Gln166Ter)
NM_000199.5(SGSH):c.506+10G>C rs549782167
NM_000199.5(SGSH):c.506+11G>A
NM_000199.5(SGSH):c.506+12G>A rs2144747927
NM_000199.5(SGSH):c.506+13G>A rs201177560
NM_000199.5(SGSH):c.506+13G>T rs201177560
NM_000199.5(SGSH):c.506+14C>A
NM_000199.5(SGSH):c.506+14C>G
NM_000199.5(SGSH):c.506+14C>T
NM_000199.5(SGSH):c.506+16C>T rs2041815351
NM_000199.5(SGSH):c.506+18T>C
NM_000199.5(SGSH):c.506+1G>A rs763063355
NM_000199.5(SGSH):c.506+2T>A
NM_000199.5(SGSH):c.506+3A>G rs1460108613
NM_000199.5(SGSH):c.506+7G>T rs2144748073
NM_000199.5(SGSH):c.506+9C>G rs376523398
NM_000199.5(SGSH):c.507-12C>T
NM_000199.5(SGSH):c.507-14C>A
NM_000199.5(SGSH):c.507-14C>T
NM_000199.5(SGSH):c.507-15C>A
NM_000199.5(SGSH):c.507-18G>A
NM_000199.5(SGSH):c.508C>G (p.Pro170Ala)
NM_000199.5(SGSH):c.519C>T (p.Leu173=)
NM_000199.5(SGSH):c.525_526insA (p.Ala176fs)
NM_000199.5(SGSH):c.526G>A (p.Ala176Thr)
NM_000199.5(SGSH):c.527C>G (p.Ala176Gly) rs760996554
NM_000199.5(SGSH):c.528C>T (p.Ala176=)
NM_000199.5(SGSH):c.52T>G (p.Cys18Gly) rs1171316652
NM_000199.5(SGSH):c.532C>G (p.His178Asp) rs1598748596
NM_000199.5(SGSH):c.535G>A (p.Asp179Asn)
NM_000199.5(SGSH):c.539C>T (p.Pro180Leu)
NM_000199.5(SGSH):c.540C>A (p.Pro180=) rs749721134
NM_000199.5(SGSH):c.540C>G (p.Pro180=) rs749721134
NM_000199.5(SGSH):c.542A>G (p.His181Arg) rs776228545
NM_000199.5(SGSH):c.544dup (p.Arg182fs)
NM_000199.5(SGSH):c.54C>A (p.Cys18Ter) rs1555624080
NM_000199.5(SGSH):c.563C>T (p.Pro188Leu)
NM_000199.5(SGSH):c.564C>G (p.Pro188=) rs1378805024
NM_000199.5(SGSH):c.573_574del (p.Thr192fs)
NM_000199.5(SGSH):c.578T>C (p.Phe193Ser) rs1555621662
NM_000199.5(SGSH):c.578_579delinsAA (p.Phe193Ter)
NM_000199.5(SGSH):c.57G>A (p.Arg19=)
NM_000199.5(SGSH):c.580T>C (p.Cys194Arg)
NM_000199.5(SGSH):c.58G>C (p.Ala20Pro)
NM_000199.5(SGSH):c.591T>C (p.Phe197=)
NM_000199.5(SGSH):c.598G>T (p.Gly200Ter)
NM_000199.5(SGSH):c.607G>A (p.Gly203Ser)
NM_000199.5(SGSH):c.617G>A (p.Arg206His)
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) rs104894643
NM_000199.5(SGSH):c.61C>A (p.Arg21Ser)
NM_000199.5(SGSH):c.622C>T (p.Pro208Ser)
NM_000199.5(SGSH):c.628T>C (p.Trp210Arg) rs1268158872
NM_000199.5(SGSH):c.630G>A (p.Trp210Ter) rs373031930
NM_000199.5(SGSH):c.632C>T (p.Thr211Ile)
NM_000199.5(SGSH):c.633C>G (p.Thr211=)
NM_000199.5(SGSH):c.633C>T (p.Thr211=) rs187147954
NM_000199.5(SGSH):c.636C>G (p.Pro212=)
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys) rs200644359
NM_000199.5(SGSH):c.637C>G (p.Gln213Glu)
NM_000199.5(SGSH):c.637dup (p.Gln213fs) rs2144742329
NM_000199.5(SGSH):c.642del (p.Tyr215fs) rs2144742222
NM_000199.5(SGSH):c.643T>C (p.Tyr215His)
NM_000199.5(SGSH):c.645C>A (p.Tyr215Ter)
NM_000199.5(SGSH):c.648C>T (p.Asp216=) rs2144742092
NM_000199.5(SGSH):c.654G>A (p.Leu218=)
NM_000199.5(SGSH):c.658G>A (p.Val220Met) rs150508741
NM_000199.5(SGSH):c.658G>C (p.Val220Leu) rs150508741
NM_000199.5(SGSH):c.658G>T (p.Val220Leu) rs150508741
NM_000199.5(SGSH):c.659T>G (p.Val220Gly) rs2144741986
NM_000199.5(SGSH):c.660G>A (p.Val220=)
NM_000199.5(SGSH):c.660G>C (p.Val220=) rs1168963563
NM_000199.5(SGSH):c.663+10C>T rs2144741673
NM_000199.5(SGSH):c.663+17T>G
NM_000199.5(SGSH):c.663+17_663+18inv
NM_000199.5(SGSH):c.663+1G>A
NM_000199.5(SGSH):c.663+20G>A
NM_000199.5(SGSH):c.663+3A>G rs2144741879
NM_000199.5(SGSH):c.663+3dup
NM_000199.5(SGSH):c.663+9G>T
NM_000199.5(SGSH):c.664-11G>A rs761740352
NM_000199.5(SGSH):c.664-15C>T
NM_000199.5(SGSH):c.664-19T>C
NM_000199.5(SGSH):c.664-1G>T rs1555621425
NM_000199.5(SGSH):c.664-20C>G
NM_000199.5(SGSH):c.664-39_664-36delinsGC rs386799751
NM_000199.5(SGSH):c.664-39_664-38del rs34029730
NM_000199.5(SGSH):c.664-4C>A rs1197427868
NM_000199.5(SGSH):c.664-4C>G rs1197427868
NM_000199.5(SGSH):c.664-4C>T
NM_000199.5(SGSH):c.664-7G>A rs2144736499
NM_000199.5(SGSH):c.666G>A (p.Val222=) rs2144736428
NM_000199.5(SGSH):c.66C>G (p.Pro22=) rs2042100337
NM_000199.5(SGSH):c.670del (p.Tyr224fs)
NM_000199.5(SGSH):c.672C>T (p.Tyr224=) rs2144736338
NM_000199.5(SGSH):c.673T>C (p.Phe225Leu) rs1057521801
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000199.5(SGSH):c.67C>G (p.Arg23Gly)
NM_000199.5(SGSH):c.681C>T (p.Pro227=)
NM_000199.5(SGSH):c.687C>A (p.Thr229=) rs778017231
NM_000199.5(SGSH):c.690G>A (p.Pro230=) rs781715169
NM_000199.5(SGSH):c.691_698del (p.Ala231fs)
NM_000199.5(SGSH):c.693_705del (p.Ala232fs) rs2041772144
NM_000199.5(SGSH):c.696C>G (p.Ala232=)
NM_000199.5(SGSH):c.697C>G (p.Arg233Gly) rs374621913
NM_000199.5(SGSH):c.699A>C (p.Arg233=) rs1361941081
NM_000199.5(SGSH):c.69G>A (p.Arg23=)
NM_000199.5(SGSH):c.702C>A (p.Ala234=)
NM_000199.5(SGSH):c.703G>C (p.Asp235His)
NM_000199.5(SGSH):c.703G>T (p.Asp235Tyr)
NM_000199.5(SGSH):c.711C>A (p.Ala237=)
NM_000199.5(SGSH):c.712G>A (p.Ala238Thr)
NM_000199.5(SGSH):c.714T>C (p.Ala238=)
NM_000199.5(SGSH):c.714del (p.Gln239fs)
NM_000199.5(SGSH):c.716A>G (p.Gln239Arg) rs1352066127
NM_000199.5(SGSH):c.718T>A (p.Tyr240Asn) rs886053560
NM_000199.5(SGSH):c.721A>G (p.Thr241Ala)
NM_000199.5(SGSH):c.722C>T (p.Thr241Ile) rs774439487
NM_000199.5(SGSH):c.723C>G (p.Thr241=)
NM_000199.5(SGSH):c.726C>A (p.Thr242=) rs1347877363
NM_000199.5(SGSH):c.726C>T (p.Thr242=) rs1347877363
NM_000199.5(SGSH):c.732C>A (p.Gly244=) rs1161386511
NM_000199.5(SGSH):c.733C>A (p.Arg245Ser)
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys) rs1455698449
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu) rs104894635
NM_000199.5(SGSH):c.736A>G (p.Met246Val)
NM_000199.5(SGSH):c.745+10C>T
NM_000199.5(SGSH):c.745+11A>G
NM_000199.5(SGSH):c.745+15C>A
NM_000199.5(SGSH):c.745+18G>A
NM_000199.5(SGSH):c.745+19G>A
NM_000199.5(SGSH):c.745+1G>C rs748525651
NM_000199.5(SGSH):c.745+20C>T
NM_000199.5(SGSH):c.745G>A (p.Gly249Arg)
NM_000199.5(SGSH):c.746-11C>T
NM_000199.5(SGSH):c.746-11_746-10del
NM_000199.5(SGSH):c.746-12C>G
NM_000199.5(SGSH):c.746-13C>A
NM_000199.5(SGSH):c.746-13C>T
NM_000199.5(SGSH):c.746-18C>G rs2041699655
NM_000199.5(SGSH):c.746-18C>T
NM_000199.5(SGSH):c.746-20T>C
NM_000199.5(SGSH):c.746-5C>T rs1449319213
NM_000199.5(SGSH):c.746-5_746-4inv
NM_000199.5(SGSH):c.746-6C>G
NM_000199.5(SGSH):c.746-9T>C rs766281885
NM_000199.5(SGSH):c.748G>T (p.Val250Phe) rs1481986186
NM_000199.5(SGSH):c.749T>A (p.Val250Asp) rs765180942
NM_000199.5(SGSH):c.750T>C (p.Val250=)
NM_000199.5(SGSH):c.751G>A (p.Gly251Arg)
NM_000199.5(SGSH):c.756G>C (p.Leu252=)
NM_000199.5(SGSH):c.757del (p.Val253fs) rs760281672
NM_000199.5(SGSH):c.759G>A (p.Val253=) rs2041697973
NM_000199.5(SGSH):c.759G>C (p.Val253=) rs2041697973
NM_000199.5(SGSH):c.75A>G (p.Ala25=) rs1262969566
NM_000199.5(SGSH):c.763C>T (p.Gln255Ter)
NM_000199.5(SGSH):c.763del (p.Gln255fs) rs1555620827
NM_000199.5(SGSH):c.771G>A (p.Leu257=) rs1015384934
NM_000199.5(SGSH):c.772C>G (p.Arg258Gly) rs1314742501
NM_000199.5(SGSH):c.772C>T (p.Arg258Cys)
NM_000199.5(SGSH):c.778G>A (p.Ala260Thr)
NM_000199.5(SGSH):c.783T>C (p.Gly261=)
NM_000199.5(SGSH):c.784G>A (p.Val262Ile)
NM_000199.5(SGSH):c.790_794delinsGCCAGAAGCGGGGGGAGGGGGGGGGTTTGGTGGAAATTTTTTGTTATGATGTCTGTGTGGAAAGCGGCTGTGCAGACATTCAATTGTTATTATTATGTCCTACAAGCATTAATTAATTAACACACTTTAGTAGGTATGTTCGCCTGTAATATTGAACGTAGGTGCGATAAATAATAGGATGAGGCAGGAATCAAAGACAGATACTGCGACATAGGGTGCTCCGG (p.Asn264_Asp265delinsAlaArgSerGlyGlyArgGlyGlyValTrpTrpLysPhePheValMetMetSerValTrpLysAlaAlaValGlnThrPheAsnCysTyrTyrTyrValLeuGlnAlaLeuIleAsnTer)
NM_000199.5(SGSH):c.793G>A (p.Asp265Asn) rs1350874932
NM_000199.5(SGSH):c.794_795insAGGTGCGATAAATAATAGGATGAGGCAGGAATCAAAGACAGATACTGCGACATAGGGTGCTCCGG (p.Asp265delinsGluGlyAlaIleAsnAsnArgMetArgGlnGluSerLysThrAspThrAlaThrTer)
NM_000199.5(SGSH):c.799C>T (p.Leu267=) rs1182273458
NM_000199.5(SGSH):c.7_16del (p.Cys3fs)
NM_000199.5(SGSH):c.803T>C (p.Val268Ala)
NM_000199.5(SGSH):c.816C>G (p.Ser272=)
NM_000199.5(SGSH):c.821A>G (p.Asn274Ser) rs2144716819
NM_000199.5(SGSH):c.822C>G (p.Asn274Lys)
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg) rs765361603
NM_000199.5(SGSH):c.828C>G (p.Ile276Met) rs2041694208
NM_000199.5(SGSH):c.833_834del (p.Phe278fs)
NM_000199.5(SGSH):c.841G>A (p.Gly281Ser)
NM_000199.5(SGSH):c.841G>T (p.Gly281Cys) rs541222703
NM_000199.5(SGSH):c.849C>A (p.Thr283=) rs2041693602
NM_000199.5(SGSH):c.849C>T (p.Thr283=)
NM_000199.5(SGSH):c.84C>A (p.Leu28=) rs1219782774
NM_000199.5(SGSH):c.84C>T (p.Leu28=) rs1219782774
NM_000199.5(SGSH):c.852C>T (p.Asn284=) rs1295667096
NM_000199.5(SGSH):c.853C>T (p.Leu285=)
NM_000199.5(SGSH):c.855G>C (p.Leu285=)
NM_000199.5(SGSH):c.858C>T (p.Tyr286=)
NM_000199.5(SGSH):c.863C>T (p.Pro288Leu)
NM_000199.5(SGSH):c.866_867del (p.Gly289fs)
NM_000199.5(SGSH):c.870T>G (p.Thr290=)
NM_000199.5(SGSH):c.873T>C (p.Ala291=)
NM_000199.5(SGSH):c.876A>G (p.Glu292=) rs2144716396
NM_000199.5(SGSH):c.879C>G (p.Pro293=) rs2144716366
NM_000199.5(SGSH):c.87C>A (p.Leu29=)
NM_000199.5(SGSH):c.88+10G>A rs2042098570
NM_000199.5(SGSH):c.88+13G>A
NM_000199.5(SGSH):c.88+14C>T rs2144831422
NM_000199.5(SGSH):c.88+16G>A
NM_000199.5(SGSH):c.88+17C>A
NM_000199.5(SGSH):c.88+18C>T
NM_000199.5(SGSH):c.88+5G>C rs2144831735
NM_000199.5(SGSH):c.880T>C (p.Leu294=)
NM_000199.5(SGSH):c.885G>T (p.Leu295=)
NM_000199.5(SGSH):c.88G>A (p.Ala30Thr)
NM_000199.5(SGSH):c.88G>C (p.Ala30Pro) rs758793075
NM_000199.5(SGSH):c.88G>T (p.Ala30Ser)
NM_000199.5(SGSH):c.88_88+67del rs2144830115
NM_000199.5(SGSH):c.89-12C>T
NM_000199.5(SGSH):c.89-17T>A rs2041926405
NM_000199.5(SGSH):c.89-18_89-15del rs768357480
NM_000199.5(SGSH):c.89-19T>C
NM_000199.5(SGSH):c.89-24CT[2] rs1467638240
NM_000199.5(SGSH):c.89-2A>G rs1369704445
NM_000199.5(SGSH):c.89-8T>G rs2144783199
NM_000199.5(SGSH):c.89-9C>G
NM_000199.5(SGSH):c.89-9C>T rs1333750382
NM_000199.5(SGSH):c.897G>A (p.Pro299=)
NM_000199.5(SGSH):c.897G>T (p.Pro299=)
NM_000199.5(SGSH):c.899A>C (p.Glu300Ala)
NM_000199.5(SGSH):c.909del (p.Lys303fs) rs775136193
NM_000199.5(SGSH):c.90G>A (p.Ala30=)
NM_000199.5(SGSH):c.910C>T (p.Arg304Cys)
NM_000199.5(SGSH):c.911G>A (p.Arg304His)
NM_000199.5(SGSH):c.911G>C (p.Arg304Pro)
NM_000199.5(SGSH):c.915G>A (p.Trp305Ter)
NM_000199.5(SGSH):c.916G>T (p.Gly306Cys) rs1598742412
NM_000199.5(SGSH):c.924C>G (p.Val308=)
NM_000199.5(SGSH):c.924C>T (p.Val308=) rs2144715938
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg) rs1385473515
NM_000199.5(SGSH):c.928G>A (p.Glu310Lys)
NM_000199.5(SGSH):c.930G>A (p.Glu310=) rs2144715838
NM_000199.5(SGSH):c.932C>A (p.Ala311Asp) rs753934983
NM_000199.5(SGSH):c.935A>G (p.Tyr312Cys)
NM_000199.5(SGSH):c.935A>T (p.Tyr312Phe)
NM_000199.5(SGSH):c.937G>C (p.Val313Leu) rs769385447
NM_000199.5(SGSH):c.937_939dup (p.Val313dup) rs1555620723
NM_000199.5(SGSH):c.941G>A (p.Ser314Asn)
NM_000199.5(SGSH):c.946C>T (p.Leu316=) rs2041689069
NM_000199.5(SGSH):c.949+10T>C rs2041688460
NM_000199.5(SGSH):c.949+12T>A
NM_000199.5(SGSH):c.949+13_949+14del
NM_000199.5(SGSH):c.949+15_949+18del rs771786259
NM_000199.5(SGSH):c.949+18T>C
NM_000199.5(SGSH):c.949+1G>A
NM_000199.5(SGSH):c.949+4_949+5insA
NM_000199.5(SGSH):c.949+9T>G
NM_000199.5(SGSH):c.949+9_949+10del
NM_000199.5(SGSH):c.950-14C>T
NM_000199.5(SGSH):c.950-9C>G rs2041634619
NM_000199.5(SGSH):c.950-9C>T rs2041634619
NM_000199.5(SGSH):c.952C>A (p.Leu318Ile) rs747197522
NM_000199.5(SGSH):c.952C>T (p.Leu318Phe)
NM_000199.5(SGSH):c.956C>T (p.Thr319Met)
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) rs758756630
NM_000199.5(SGSH):c.962C>T (p.Thr321Ile) rs2144699541
NM_000199.5(SGSH):c.96C>A (p.Asp32Glu) rs139850991
NM_000199.5(SGSH):c.978C>T (p.Phe326=)
NM_000199.5(SGSH):c.980C>T (p.Ser327Leu)
NM_000199.5(SGSH):c.981G>A (p.Ser327=) rs143223388
NM_000199.5(SGSH):c.990C>T (p.Tyr330=)
NM_000199.5(SGSH):c.9C>T (p.Cys3=) rs2144833432
NM_000202.8(IDS):c.1297A>G (p.Arg433Gly) rs2089307094
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000202.8(IDS):c.236C>T (p.Ala79Val) rs368513342
NM_000202.8(IDS):c.419-16dup rs781852261
NM_000202.8(IDS):c.419-6del rs781852261
NM_000202.8(IDS):c.709-661del rs1196180401
NM_000202.8(IDS):c.934G>A (p.Gly312Ser) rs903259179
NM_000202.8(IDS):c.957C>A (p.Asp319Glu) rs782488487
NM_000202.8(IDS):c.958G>A (p.Asp320Asn) rs2089379111
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) rs34901902
NM_024312.5(GNPTAB):c.3435-1G>A rs281865037
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) rs34946266

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