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.641C>A (p.Ala214Asp)
|
rs74000629
|
0.00143
|
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.1428C>T (p.His476=)
|
rs139460639
|
0.00066
|
NM_000199.5(SGSH):c.324G>A (p.Pro108=)
|
rs147938702
|
0.00060
|
NM_000199.5(SGSH):c.507-7C>T
|
rs200965114
|
0.00056
|
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=)
|
rs115750405
|
0.00053
|
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=)
|
rs141153056
|
0.00050
|
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=)
|
rs146522699
|
0.00044
|
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.1050G>A (p.Pro350=)
|
rs373992449
|
0.00023
|
NM_000199.5(SGSH):c.780C>T (p.Ala260=)
|
rs530964770
|
0.00023
|
NM_000199.5(SGSH):c.570C>T (p.Tyr190=)
|
rs149951602
|
0.00019
|
NM_000199.5(SGSH):c.534C>T (p.His178=)
|
rs139484283
|
0.00012
|
NM_000199.5(SGSH):c.663+13C>T
|
rs760216365
|
0.00011
|
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.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.1104C>T (p.His368=)
|
rs111800668
|
0.00008
|
NM_000199.5(SGSH):c.155C>T (p.Ala52Val)
|
rs758203457
|
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.1302G>A (p.Ala434=)
|
rs376787615
|
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.840C>T (p.Ser280=)
|
rs146904798
|
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.1134C>T (p.Ser378=)
|
rs771257931
|
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.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.89-10C>T
|
rs766929408
|
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_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.1365G>A (p.Pro455=)
|
rs750709138
|
0.00003
|
NM_000199.5(SGSH):c.250-10T>C
|
rs771639203
|
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.987G>A (p.Pro329=)
|
rs752176531
|
0.00003
|
NM_000199.5(SGSH):c.1053G>A (p.Ala351=)
|
rs757723989
|
0.00002
|
NM_000199.5(SGSH):c.1194C>T (p.Ile398=)
|
rs759758209
|
0.00002
|
NM_000199.5(SGSH):c.135C>T (p.Ile45=)
|
rs775770560
|
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.355+12G>A
|
rs376088400
|
0.00002
|
NM_000199.5(SGSH):c.37C>T (p.Leu13=)
|
rs1412578109
|
0.00002
|
NM_000199.5(SGSH):c.399G>A (p.Pro133=)
|
rs752056541
|
0.00002
|
NM_000199.5(SGSH):c.506+10G>A
|
rs549782167
|
0.00002
|
NM_000199.5(SGSH):c.537C>T (p.Asp179=)
|
rs771440037
|
0.00002
|
NM_000199.5(SGSH):c.657C>T (p.Asp219=)
|
rs756315850
|
0.00002
|
NM_000199.5(SGSH):c.663+8G>A
|
rs773765512
|
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_000199.5(SGSH):c.1035C>T (p.Gly345=)
|
rs748069998
|
0.00001
|
NM_000199.5(SGSH):c.1080C>T (p.Thr360=)
|
rs766102096
|
0.00001
|
NM_000199.5(SGSH):c.114C>T (p.Gly38=)
|
rs2041924510
|
0.00001
|
NM_000199.5(SGSH):c.1158C>T (p.Leu386=)
|
rs765011477
|
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.1210G>A (p.Val404Ile)
|
rs191465934
|
0.00001
|
NM_000199.5(SGSH):c.129C>T (p.Ser43=)
|
rs747247188
|
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.1404G>A (p.Leu468=)
|
rs368952369
|
0.00001
|
NM_000199.5(SGSH):c.1443C>T (p.Cys481=)
|
rs747742566
|
0.00001
|
NM_000199.5(SGSH):c.1452C>T (p.Asp484=)
|
rs763360021
|
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.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.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.384G>A (p.Pro128=)
|
rs770944273
|
0.00001
|
NM_000199.5(SGSH):c.486C>T (p.Phe162=)
|
rs371061954
|
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.525C>T (p.Val175=)
|
rs1035928326
|
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.597C>T (p.Asn199=)
|
rs753030382
|
0.00001
|
NM_000199.5(SGSH):c.606C>T (p.Ser202=)
|
rs544509805
|
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.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.777C>T (p.Asp259=)
|
rs761104676
|
0.00001
|
NM_000199.5(SGSH):c.798A>G (p.Thr266=)
|
rs199562202
|
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.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.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.933C>T (p.Ala311=)
|
rs777957953
|
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.993C>T (p.Pro331=)
|
rs934982826
|
0.00001
|
NM_000199.5(SGSH):c.996C>T (p.Ser332=)
|
rs1452808824
|
0.00001
|
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.1014G>A (p.Ser338=)
|
rs1329179099
|
|
NM_000199.5(SGSH):c.1014G>T (p.Ser338=)
|
|
|
NM_000199.5(SGSH):c.1020C>T (p.Thr340=)
|
|
|
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.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.1068C>G (p.Pro356=)
|
rs2144696905
|
|
NM_000199.5(SGSH):c.1068C>T (p.Pro356=)
|
|
|
NM_000199.5(SGSH):c.1080C>A (p.Thr360=)
|
|
|
NM_000199.5(SGSH):c.1083C>G (p.Val361=)
|
rs1163683351
|
|
NM_000199.5(SGSH):c.1089C>T (p.Gly363=)
|
|
|
NM_000199.5(SGSH):c.108G>A (p.Glu36=)
|
|
|
NM_000199.5(SGSH):c.1095G>A (p.Gln365=)
|
rs1567915786
|
|
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.1122C>T (p.Tyr374=)
|
|
|
NM_000199.5(SGSH):c.1125C>T (p.Pro375=)
|
|
|
NM_000199.5(SGSH):c.1131C>T (p.Arg377=)
|
|
|
NM_000199.5(SGSH):c.1140G>A (p.Gln380=)
|
rs2144695233
|
|
NM_000199.5(SGSH):c.1149C>T (p.His383=)
|
rs1312597739
|
|
NM_000199.5(SGSH):c.1152C>T (p.Phe384=)
|
|
|
NM_000199.5(SGSH):c.1159G>A (p.Val387Met)
|
rs62620232
|
|
NM_000199.5(SGSH):c.117G>T (p.Ala39=)
|
rs201132655
|
|
NM_000199.5(SGSH):c.1185C>G (p.Pro395=)
|
|
|
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.1221C>T (p.Thr407=)
|
rs1598738043
|
|
NM_000199.5(SGSH):c.1233C>T (p.Leu411=)
|
|
|
NM_000199.5(SGSH):c.1251T>C (p.Ala417=)
|
rs2144692797
|
|
NM_000199.5(SGSH):c.1263G>C (p.Thr421=)
|
rs140931352
|
|
NM_000199.5(SGSH):c.126C>T (p.Asn42=)
|
|
|
NM_000199.5(SGSH):c.1278C>T (p.Asp426=)
|
|
|
NM_000199.5(SGSH):c.1284T>C (p.Arg428=)
|
|
|
NM_000199.5(SGSH):c.1299G>A (p.Arg433=)
|
|
|
NM_000199.5(SGSH):c.1305C>T (p.Arg435=)
|
|
|
NM_000199.5(SGSH):c.1320C>T (p.Asp440=)
|
rs751683275
|
|
NM_000199.5(SGSH):c.1323G>A (p.Arg441=)
|
|
|
NM_000199.5(SGSH):c.1332C>T (p.Asp444=)
|
|
|
NM_000199.5(SGSH):c.1338C>T (p.His446=)
|
rs762208419
|
|
NM_000199.5(SGSH):c.1341G>A (p.Glu447=)
|
|
|
NM_000199.5(SGSH):c.1344C>T (p.Thr448=)
|
|
|
NM_000199.5(SGSH):c.1356C>A (p.Ala452=)
|
rs2041601835
|
|
NM_000199.5(SGSH):c.135C>A (p.Ile45=)
|
|
|
NM_000199.5(SGSH):c.1374T>C (p.Ala458=)
|
|
|
NM_000199.5(SGSH):c.1380T>A (p.Leu460=)
|
rs1298944219
|
|
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.1395G>A (p.Arg465=)
|
|
|
NM_000199.5(SGSH):c.1395G>C (p.Arg465=)
|
rs764491308
|
|
NM_000199.5(SGSH):c.1410G>A (p.Lys470=)
|
rs977948935
|
|
NM_000199.5(SGSH):c.141C>A (p.Thr47=)
|
|
|
NM_000199.5(SGSH):c.1422G>A (p.Glu474=)
|
|
|
NM_000199.5(SGSH):c.1425C>A (p.Thr475=)
|
|
|
NM_000199.5(SGSH):c.1425C>G (p.Thr475=)
|
|
|
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.1440G>T (p.Val480=)
|
|
|
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.1458C>A (p.Val486=)
|
|
|
NM_000199.5(SGSH):c.1467G>A (p.Glu489=)
|
rs2144687765
|
|
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.1476T>C (p.Ser492=)
|
rs769228670
|
|
NM_000199.5(SGSH):c.1491C>T (p.Pro497=)
|
|
|
NM_000199.5(SGSH):c.1503G>A (p.Glu501=)
|
|
|
NM_000199.5(SGSH):c.154G>A (p.Ala52Thr)
|
rs551094331
|
|
NM_000199.5(SGSH):c.168C>G (p.Arg56=)
|
|
|
NM_000199.5(SGSH):c.174C>T (p.Leu58=)
|
rs1278899264
|
|
NM_000199.5(SGSH):c.177C>G (p.Leu59=)
|
|
|
NM_000199.5(SGSH):c.180T>C (p.Phe60=)
|
|
|
NM_000199.5(SGSH):c.183C>G (p.Arg61=)
|
rs561475181
|
|
NM_000199.5(SGSH):c.183C>T (p.Arg61=)
|
|
|
NM_000199.5(SGSH):c.189C>T (p.Ala63=)
|
|
|
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.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.210C>T (p.Cys70=)
|
rs2144781434
|
|
NM_000199.5(SGSH):c.21C>G (p.Ala7=)
|
|
|
NM_000199.5(SGSH):c.222C>A (p.Arg74=)
|
|
|
NM_000199.5(SGSH):c.222C>T (p.Arg74=)
|
rs768056322
|
|
NM_000199.5(SGSH):c.225C>T (p.Ala75=)
|
|
|
NM_000199.5(SGSH):c.237T>C (p.Thr79=)
|
|
|
NM_000199.5(SGSH):c.246C>G (p.Pro82=)
|
|
|
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.250-7C>T
|
|
|
NM_000199.5(SGSH):c.250-8G>T
|
rs1043560351
|
|
NM_000199.5(SGSH):c.261G>A (p.Gly87=)
|
|
|
NM_000199.5(SGSH):c.270G>A (p.Gly90=)
|
|
|
NM_000199.5(SGSH):c.273G>A (p.Leu91=)
|
rs2144755014
|
|
NM_000199.5(SGSH):c.276C>T (p.His92=)
|
|
|
NM_000199.5(SGSH):c.282C>T (p.Asp94=)
|
rs748857638
|
|
NM_000199.5(SGSH):c.288C>T (p.His96=)
|
|
|
NM_000199.5(SGSH):c.300C>A (p.Ser100=)
|
|
|
NM_000199.5(SGSH):c.30_31delinsTT (p.Ala10_Leu11=)
|
rs2144832917
|
|
NM_000199.5(SGSH):c.31C>T (p.Leu11=)
|
|
|
NM_000199.5(SGSH):c.321G>A (p.Leu107=)
|
|
|
NM_000199.5(SGSH):c.333C>T (p.Leu111=)
|
|
|
NM_000199.5(SGSH):c.336C>T (p.Ser112=)
|
|
|
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.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.356-5C>T
|
rs1240953762
|
|
NM_000199.5(SGSH):c.357C>T (p.Gly119=)
|
|
|
NM_000199.5(SGSH):c.360C>T (p.Ile120=)
|
rs1314987469
|
|
NM_000199.5(SGSH):c.372G>A (p.Lys124=)
|
|
|
NM_000199.5(SGSH):c.378G>A (p.Val126=)
|
rs771878830
|
|
NM_000199.5(SGSH):c.378G>T (p.Val126=)
|
|
|
NM_000199.5(SGSH):c.381G>A (p.Gly127=)
|
rs2144749895
|
|
NM_000199.5(SGSH):c.390C>G (p.Thr130=)
|
rs111761143
|
|
NM_000199.5(SGSH):c.399G>C (p.Pro133=)
|
|
|
NM_000199.5(SGSH):c.39A>G (p.Leu13=)
|
rs2144832681
|
|
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.417G>C (p.Thr139=)
|
rs142729872
|
|
NM_000199.5(SGSH):c.42C>T (p.Val14=)
|
rs1598772270
|
|
NM_000199.5(SGSH):c.435C>A (p.Val145=)
|
|
|
NM_000199.5(SGSH):c.435C>T (p.Val145=)
|
rs2144749023
|
|
NM_000199.5(SGSH):c.459T>C (p.Thr153=)
|
|
|
NM_000199.5(SGSH):c.45G>T (p.Leu15=)
|
|
|
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.477C>G (p.Val159=)
|
|
|
NM_000199.5(SGSH):c.480G>T (p.Arg160=)
|
rs2144748453
|
|
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.495T>G (p.Thr165=)
|
|
|
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+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.519C>T (p.Leu173=)
|
|
|
NM_000199.5(SGSH):c.528C>T (p.Ala176=)
|
|
|
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.564C>G (p.Pro188=)
|
rs1378805024
|
|
NM_000199.5(SGSH):c.57G>A (p.Arg19=)
|
|
|
NM_000199.5(SGSH):c.591T>C (p.Phe197=)
|
|
|
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.648C>T (p.Asp216=)
|
rs2144742092
|
|
NM_000199.5(SGSH):c.654G>A (p.Leu218=)
|
|
|
NM_000199.5(SGSH):c.658G>T (p.Val220Leu)
|
rs150508741
|
|
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+20G>A
|
|
|
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.664-20C>G
|
|
|
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.672C>T (p.Tyr224=)
|
rs2144736338
|
|
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.696C>G (p.Ala232=)
|
|
|
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.711C>A (p.Ala237=)
|
|
|
NM_000199.5(SGSH):c.714T>C (p.Ala238=)
|
|
|
NM_000199.5(SGSH):c.723C>G (p.Thr241=)
|
|
|
NM_000199.5(SGSH):c.726C>A (p.Thr242=)
|
rs1347877363
|
|
NM_000199.5(SGSH):c.732C>A (p.Gly244=)
|
rs1161386511
|
|
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+20C>T
|
|
|
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.746-9T>C
|
rs766281885
|
|
NM_000199.5(SGSH):c.750T>C (p.Val250=)
|
|
|
NM_000199.5(SGSH):c.756G>C (p.Leu252=)
|
|
|
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.771G>A (p.Leu257=)
|
rs1015384934
|
|
NM_000199.5(SGSH):c.783T>C (p.Gly261=)
|
|
|
NM_000199.5(SGSH):c.799C>T (p.Leu267=)
|
rs1182273458
|
|
NM_000199.5(SGSH):c.816C>G (p.Ser272=)
|
|
|
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.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.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.880T>C (p.Leu294=)
|
|
|
NM_000199.5(SGSH):c.885G>T (p.Leu295=)
|
|
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NM_000199.5(SGSH):c.89-12C>T
|
|
|
NM_000199.5(SGSH):c.89-17T>A
|
rs2041926405
|
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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
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NM_000199.5(SGSH):c.89-8T>G
|
rs2144783199
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|
NM_000199.5(SGSH):c.89-9C>G
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|
|
NM_000199.5(SGSH):c.89-9C>T
|
rs1333750382
|
|
NM_000199.5(SGSH):c.897G>A (p.Pro299=)
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|
|
NM_000199.5(SGSH):c.897G>T (p.Pro299=)
|
|
|
NM_000199.5(SGSH):c.924C>G (p.Val308=)
|
|
|
NM_000199.5(SGSH):c.924C>T (p.Val308=)
|
rs2144715938
|
|
NM_000199.5(SGSH):c.930G>A (p.Glu310=)
|
rs2144715838
|
|
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+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.978C>T (p.Phe326=)
|
|
|
NM_000199.5(SGSH):c.981G>A (p.Ser327=)
|
rs143223388
|
|
NM_000199.5(SGSH):c.990C>T (p.Tyr330=)
|
|
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