NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg)
|
rs148632988
|
0.00633
|
NM_152419.3(HGSNAT):c.1250+7G>A
|
rs74795999
|
0.00475
|
NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys)
|
rs202128129
|
0.00134
|
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys)
|
rs192857413
|
0.00082
|
NM_152419.3(HGSNAT):c.1752C>T (p.Val584=)
|
rs200678234
|
0.00080
|
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)
|
rs184883937
|
0.00077
|
NM_152419.3(HGSNAT):c.12G>A (p.Ala4=)
|
rs1018475767
|
0.00061
|
NM_152419.3(HGSNAT):c.199T>C (p.Leu67=)
|
rs376924663
|
0.00059
|
NM_152419.3(HGSNAT):c.765C>T (p.Val255=)
|
rs137963729
|
0.00046
|
NM_152419.3(HGSNAT):c.1623G>A (p.Ser541=)
|
rs372909374
|
0.00038
|
NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys)
|
rs867446205
|
0.00035
|
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=)
|
rs886062952
|
0.00031
|
NM_152419.3(HGSNAT):c.1251-4C>T
|
rs374882647
|
0.00027
|
NM_152419.3(HGSNAT):c.468C>T (p.Asn156=)
|
rs376382820
|
0.00022
|
NM_152419.3(HGSNAT):c.1488C>T (p.Tyr496=)
|
rs371042202
|
0.00017
|
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile)
|
rs202001245
|
0.00016
|
NM_152419.3(HGSNAT):c.321C>T (p.His107=)
|
rs571883806
|
0.00016
|
NM_152419.3(HGSNAT):c.1128+8A>G
|
rs371054148
|
0.00013
|
NM_152419.3(HGSNAT):c.1378-20T>G
|
rs376109017
|
0.00012
|
NM_152419.3(HGSNAT):c.1779C>T (p.Phe593=)
|
rs374463372
|
0.00011
|
NM_152419.3(HGSNAT):c.699A>G (p.Leu233=)
|
rs756091468
|
0.00009
|
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=)
|
rs775663094
|
0.00009
|
NM_152419.3(HGSNAT):c.339G>A (p.Leu113=)
|
rs1373363345
|
0.00008
|
NM_152419.3(HGSNAT):c.479T>C (p.Val160Ala)
|
rs369469113
|
0.00008
|
NM_152419.3(HGSNAT):c.682C>A (p.Pro228Thr)
|
rs369975831
|
0.00008
|
NM_152419.3(HGSNAT):c.1542+18C>T
|
rs1013624277
|
0.00006
|
NM_152419.3(HGSNAT):c.633+20G>C
|
rs144188129
|
0.00006
|
NM_152419.3(HGSNAT):c.666C>T (p.Leu222=)
|
rs754275273
|
0.00006
|
NM_152419.3(HGSNAT):c.1495C>T (p.Arg499Trp)
|
rs200238482
|
0.00005
|
NM_152419.3(HGSNAT):c.118+17T>C
|
rs912987473
|
0.00004
|
NM_152419.3(HGSNAT):c.1347C>T (p.Asp449=)
|
rs752420375
|
0.00004
|
NM_152419.3(HGSNAT):c.1839C>T (p.Ile613=)
|
rs772611068
|
0.00004
|
NM_152419.3(HGSNAT):c.277G>T (p.Ala93Ser)
|
rs368452647
|
0.00004
|
NM_152419.3(HGSNAT):c.285G>A (p.Lys95=)
|
rs752466254
|
0.00004
|
NM_152419.3(HGSNAT):c.840C>T (p.Leu280=)
|
rs1000820440
|
0.00004
|
NM_152419.3(HGSNAT):c.87G>C (p.Ser29=)
|
rs1461385635
|
0.00004
|
NM_152419.3(HGSNAT):c.1044G>A (p.Val348=)
|
rs374020825
|
0.00003
|
NM_152419.3(HGSNAT):c.1129-6A>G
|
rs777965568
|
0.00003
|
NM_152419.3(HGSNAT):c.1250+11C>A
|
rs185075731
|
0.00003
|
NM_152419.3(HGSNAT):c.1326C>T (p.Ile442=)
|
rs765410268
|
0.00003
|
NM_152419.3(HGSNAT):c.234+17A>G
|
rs1177889475
|
0.00003
|
NM_152419.3(HGSNAT):c.563+20C>T
|
rs367934394
|
0.00003
|
NM_152419.3(HGSNAT):c.654G>A (p.Arg218=)
|
rs561712734
|
0.00003
|
NM_152419.3(HGSNAT):c.711G>A (p.Pro237=)
|
rs376484914
|
0.00003
|
NM_152419.3(HGSNAT):c.1023C>T (p.Asp341=)
|
rs772729729
|
0.00002
|
NM_152419.3(HGSNAT):c.1377+14G>A
|
rs781546106
|
0.00002
|
NM_152419.3(HGSNAT):c.1377+19C>T
|
rs753305419
|
0.00002
|
NM_152419.3(HGSNAT):c.1614-10C>T
|
rs755029430
|
0.00002
|
NM_152419.3(HGSNAT):c.168A>G (p.Leu56=)
|
rs769399813
|
0.00002
|
NM_152419.3(HGSNAT):c.1836C>T (p.Asn612=)
|
rs367648422
|
0.00002
|
NM_152419.3(HGSNAT):c.1842C>T (p.Val614=)
|
rs374563604
|
0.00002
|
NM_152419.3(HGSNAT):c.282G>A (p.Gly94=)
|
rs751419441
|
0.00002
|
NM_152419.3(HGSNAT):c.371+15T>A
|
rs372920077
|
0.00002
|
NM_152419.3(HGSNAT):c.690G>A (p.Thr230=)
|
rs1303093971
|
0.00002
|
NM_152419.3(HGSNAT):c.90G>T (p.Gly30=)
|
rs1187482453
|
0.00002
|
NM_152419.3(HGSNAT):c.945A>G (p.Ala315=)
|
rs371569367
|
0.00002
|
NM_152419.3(HGSNAT):c.1002C>T (p.Cys334=)
|
rs747338801
|
0.00001
|
NM_152419.3(HGSNAT):c.1008T>A (p.Gly336=)
|
rs748217780
|
0.00001
|
NM_152419.3(HGSNAT):c.1012+10T>A
|
rs372410947
|
0.00001
|
NM_152419.3(HGSNAT):c.1013-12T>G
|
rs199736308
|
0.00001
|
NM_152419.3(HGSNAT):c.1045C>T (p.Leu349=)
|
rs767921078
|
0.00001
|
NM_152419.3(HGSNAT):c.1107T>C (p.Pro369=)
|
rs1401712530
|
0.00001
|
NM_152419.3(HGSNAT):c.111G>A (p.Pro37=)
|
rs886062953
|
0.00001
|
NM_152419.3(HGSNAT):c.1129-5C>T
|
rs1220052687
|
0.00001
|
NM_152419.3(HGSNAT):c.1129-7C>T
|
rs756262049
|
0.00001
|
NM_152419.3(HGSNAT):c.1155C>T (p.Asp385=)
|
rs768343523
|
0.00001
|
NM_152419.3(HGSNAT):c.1161G>A (p.Thr387=)
|
rs761414980
|
0.00001
|
NM_152419.3(HGSNAT):c.118+10C>A
|
rs768117824
|
0.00001
|
NM_152419.3(HGSNAT):c.1224C>T (p.Phe408=)
|
rs779284289
|
0.00001
|
NM_152419.3(HGSNAT):c.1251-16C>G
|
rs371770607
|
0.00001
|
NM_152419.3(HGSNAT):c.1290G>A (p.Lys430=)
|
rs748987930
|
0.00001
|
NM_152419.3(HGSNAT):c.1302C>T (p.Cys434=)
|
rs759417010
|
0.00001
|
NM_152419.3(HGSNAT):c.1359C>T (p.Tyr453=)
|
rs376647117
|
0.00001
|
NM_152419.3(HGSNAT):c.1368A>G (p.Pro456=)
|
rs1411732379
|
0.00001
|
NM_152419.3(HGSNAT):c.1377+7G>C
|
rs1225445756
|
0.00001
|
NM_152419.3(HGSNAT):c.1392C>T (p.Thr464=)
|
rs767972481
|
0.00001
|
NM_152419.3(HGSNAT):c.1410C>T (p.Pro470=)
|
rs779611596
|
0.00001
|
NM_152419.3(HGSNAT):c.1440C>T (p.Ile480=)
|
rs779933668
|
0.00001
|
NM_152419.3(HGSNAT):c.1465-14G>A
|
rs1484663572
|
0.00001
|
NM_152419.3(HGSNAT):c.1543-20C>A
|
rs201435854
|
0.00001
|
NM_152419.3(HGSNAT):c.1543-7A>G
|
rs781471935
|
0.00001
|
NM_152419.3(HGSNAT):c.1545G>A (p.Gly515=)
|
rs1440154264
|
0.00001
|
NM_152419.3(HGSNAT):c.1632T>C (p.Thr544=)
|
rs757706222
|
0.00001
|
NM_152419.3(HGSNAT):c.1669C>T (p.Leu557=)
|
rs761500930
|
0.00001
|
NM_152419.3(HGSNAT):c.1698G>A (p.Leu566=)
|
rs752785040
|
0.00001
|
NM_152419.3(HGSNAT):c.1727-13C>G
|
rs747875081
|
0.00001
|
NM_152419.3(HGSNAT):c.1727-17A>G
|
rs780686580
|
0.00001
|
NM_152419.3(HGSNAT):c.1815C>T (p.His605=)
|
rs1249488528
|
0.00001
|
NM_152419.3(HGSNAT):c.1821G>A (p.Glu607=)
|
rs769449292
|
0.00001
|
NM_152419.3(HGSNAT):c.1907G>A (p.Ter636=)
|
rs1804852687
|
0.00001
|
NM_152419.3(HGSNAT):c.234+10A>T
|
rs1802742419
|
0.00001
|
NM_152419.3(HGSNAT):c.258C>T (p.Asn86=)
|
rs772299811
|
0.00001
|
NM_152419.3(HGSNAT):c.261T>A (p.Val87=)
|
rs1461875540
|
0.00001
|
NM_152419.3(HGSNAT):c.279A>C (p.Ala93=)
|
rs766369405
|
0.00001
|
NM_152419.3(HGSNAT):c.288T>C (p.Pro96=)
|
rs755833800
|
0.00001
|
NM_152419.3(HGSNAT):c.360A>G (p.Lys120=)
|
rs200079240
|
0.00001
|
NM_152419.3(HGSNAT):c.366T>G (p.Val122=)
|
rs1803172362
|
0.00001
|
NM_152419.3(HGSNAT):c.369T>C (p.Cys123=)
|
rs1258501549
|
0.00001
|
NM_152419.3(HGSNAT):c.39G>C (p.Leu13=)
|
rs1335563220
|
0.00001
|
NM_152419.3(HGSNAT):c.411C>G (p.Leu137=)
|
rs1051098032
|
0.00001
|
NM_152419.3(HGSNAT):c.453T>C (p.Cys151=)
|
rs763777880
|
0.00001
|
NM_152419.3(HGSNAT):c.45G>A (p.Ala15=)
|
rs1351688097
|
0.00001
|
NM_152419.3(HGSNAT):c.486T>C (p.Ser162=)
|
rs1803185644
|
0.00001
|
NM_152419.3(HGSNAT):c.48C>G (p.Ser16=)
|
rs1802479958
|
0.00001
|
NM_152419.3(HGSNAT):c.558G>A (p.Leu186=)
|
rs953533399
|
0.00001
|
NM_152419.3(HGSNAT):c.559T>C (p.Leu187=)
|
rs1408418542
|
0.00001
|
NM_152419.3(HGSNAT):c.563+7T>C
|
rs756465413
|
0.00001
|
NM_152419.3(HGSNAT):c.591T>C (p.Ser197=)
|
rs1355715592
|
0.00001
|
NM_152419.3(HGSNAT):c.60C>T (p.Ala20=)
|
rs1251787808
|
0.00001
|
NM_152419.3(HGSNAT):c.64C>T (p.Leu22=)
|
rs1164054537
|
0.00001
|
NM_152419.3(HGSNAT):c.726C>T (p.Ser242=)
|
rs181728385
|
0.00001
|
NM_152419.3(HGSNAT):c.735C>G (p.Thr245=)
|
rs997906795
|
0.00001
|
NM_152419.3(HGSNAT):c.777T>C (p.Tyr259=)
|
rs376365655
|
0.00001
|
NM_152419.3(HGSNAT):c.837C>T (p.Asp279=)
|
rs1277158595
|
0.00001
|
NM_152419.3(HGSNAT):c.849G>A (p.Pro283=)
|
rs368058038
|
0.00001
|
NM_152419.3(HGSNAT):c.851+7T>G
|
rs756810802
|
0.00001
|
NM_152419.3(HGSNAT):c.851+9C>T
|
rs755549867
|
0.00001
|
NM_152419.3(HGSNAT):c.885A>G (p.Leu295=)
|
rs200637619
|
0.00001
|
NM_152419.3(HGSNAT):c.888G>A (p.Ser296=)
|
rs780309535
|
0.00001
|
NM_152419.3(HGSNAT):c.928T>C (p.Leu310=)
|
rs1358940142
|
0.00001
|
NM_152419.3(HGSNAT):c.987G>C (p.Val329=)
|
rs1241816731
|
0.00001
|
NM_152419.3(HGSNAT):c.1005T>A (p.Leu335=)
|
|
|
NM_152419.3(HGSNAT):c.1012+14C>A
|
|
|
NM_152419.3(HGSNAT):c.1012+14C>T
|
|
|
NM_152419.3(HGSNAT):c.1012+15C>T
|
|
|
NM_152419.3(HGSNAT):c.1012+19T>C
|
|
|
NM_152419.3(HGSNAT):c.1012+7A>G
|
|
|
NM_152419.3(HGSNAT):c.1012+7dup
|
|
|
NM_152419.3(HGSNAT):c.1012+8C>A
|
|
|
NM_152419.3(HGSNAT):c.1012+8del
|
rs2130766762
|
|
NM_152419.3(HGSNAT):c.1013-12T>C
|
|
|
NM_152419.3(HGSNAT):c.1013-15_1013-14del
|
|
|
NM_152419.3(HGSNAT):c.1013-20C>T
|
rs1804147010
|
|
NM_152419.3(HGSNAT):c.1013-4G>A
|
rs1260943762
|
|
NM_152419.3(HGSNAT):c.1013-9C>G
|
rs2130783567
|
|
NM_152419.3(HGSNAT):c.1026G>A (p.Lys342=)
|
|
|
NM_152419.3(HGSNAT):c.102G>A (p.Gln34=)
|
|
|
NM_152419.3(HGSNAT):c.1050G>A (p.Gln350=)
|
rs2130783705
|
|
NM_152419.3(HGSNAT):c.1051C>A (p.Arg351=)
|
|
|
NM_152419.3(HGSNAT):c.1054T>C (p.Leu352=)
|
|
|
NM_152419.3(HGSNAT):c.105C>G (p.Ala35=)
|
|
|
NM_152419.3(HGSNAT):c.105C>T (p.Ala35=)
|
|
|
NM_152419.3(HGSNAT):c.1062G>A (p.Val354=)
|
|
|
NM_152419.3(HGSNAT):c.1065A>T (p.Thr355=)
|
|
|
NM_152419.3(HGSNAT):c.1080T>G (p.Ala360=)
|
rs757385876
|
|
NM_152419.3(HGSNAT):c.1089G>A (p.Glu363=)
|
|
|
NM_152419.3(HGSNAT):c.108G>C (p.Ala36=)
|
rs886062952
|
|
NM_152419.3(HGSNAT):c.1095C>T (p.Leu365=)
|
|
|
NM_152419.3(HGSNAT):c.1101T>C (p.Ala367=)
|
|
|
NM_152419.3(HGSNAT):c.1104A>G (p.Lys368=)
|
|
|
NM_152419.3(HGSNAT):c.1110G>C (p.Val370=)
|
|
|
NM_152419.3(HGSNAT):c.1116A>G (p.Glu372=)
|
rs781052651
|
|
NM_152419.3(HGSNAT):c.1125C>G (p.Ala375=)
|
rs987062801
|
|
NM_152419.3(HGSNAT):c.1125C>T (p.Ala375=)
|
rs987062801
|
|
NM_152419.3(HGSNAT):c.1128+11A>G
|
|
|
NM_152419.3(HGSNAT):c.1128+13G>A
|
|
|
NM_152419.3(HGSNAT):c.1128+14T>A
|
|
|
NM_152419.3(HGSNAT):c.1128+16T>C
|
|
|
NM_152419.3(HGSNAT):c.1128+9C>A
|
|
|
NM_152419.3(HGSNAT):c.1129-10C>A
|
|
|
NM_152419.3(HGSNAT):c.1129-7C>A
|
rs756262049
|
|
NM_152419.3(HGSNAT):c.1129-9C>T
|
|
|
NM_152419.3(HGSNAT):c.1158C>T (p.Ile386=)
|
|
|
NM_152419.3(HGSNAT):c.115C>A (p.Arg39=)
|
|
|
NM_152419.3(HGSNAT):c.1161G>T (p.Thr387=)
|
rs761414980
|
|
NM_152419.3(HGSNAT):c.1173C>T (p.Pro391=)
|
rs1563381683
|
|
NM_152419.3(HGSNAT):c.118+10C>T
|
rs768117824
|
|
NM_152419.3(HGSNAT):c.118+11A>C
|
|
|
NM_152419.3(HGSNAT):c.118+11A>G
|
|
|
NM_152419.3(HGSNAT):c.118+12C>G
|
rs1408305187
|
|
NM_152419.3(HGSNAT):c.118+12C>T
|
|
|
NM_152419.3(HGSNAT):c.118+13C>A
|
|
|
NM_152419.3(HGSNAT):c.118+13C>G
|
|
|
NM_152419.3(HGSNAT):c.118+13C>T
|
|
|
NM_152419.3(HGSNAT):c.118+16C>G
|
rs1457633859
|
|
NM_152419.3(HGSNAT):c.118+16C>T
|
|
|
NM_152419.3(HGSNAT):c.118+18A>C
|
|
|
NM_152419.3(HGSNAT):c.118+18A>G
|
|
|
NM_152419.3(HGSNAT):c.118+19C>T
|
|
|
NM_152419.3(HGSNAT):c.118+20C>G
|
rs1802485942
|
|
NM_152419.3(HGSNAT):c.118+20C>T
|
rs1802485942
|
|
NM_152419.3(HGSNAT):c.118+7G>A
|
rs1298192155
|
|
NM_152419.3(HGSNAT):c.118+7G>C
|
|
|
NM_152419.3(HGSNAT):c.118+8C>G
|
rs2130648798
|
|
NM_152419.3(HGSNAT):c.118+8C>T
|
rs2130648798
|
|
NM_152419.3(HGSNAT):c.118+9A>C
|
|
|
NM_152419.3(HGSNAT):c.1182G>A (p.Leu394=)
|
|
|
NM_152419.3(HGSNAT):c.1182G>C (p.Leu394=)
|
rs1218241477
|
|
NM_152419.3(HGSNAT):c.1185C>T (p.Leu395=)
|
|
|
NM_152419.3(HGSNAT):c.119-12A>G
|
|
|
NM_152419.3(HGSNAT):c.119-5A>G
|
rs756141376
|
|
NM_152419.3(HGSNAT):c.119-9T>C
|
rs1346109871
|
|
NM_152419.3(HGSNAT):c.1191G>C (p.Leu397=)
|
rs1563381716
|
|
NM_152419.3(HGSNAT):c.1195C>T (p.Leu399=)
|
|
|
NM_152419.3(HGSNAT):c.1221A>G (p.Thr407=)
|
|
|
NM_152419.3(HGSNAT):c.1227C>T (p.Leu409=)
|
rs2130805422
|
|
NM_152419.3(HGSNAT):c.1228C>T (p.Leu410=)
|
|
|
NM_152419.3(HGSNAT):c.1230G>T (p.Leu410=)
|
rs1356136152
|
|
NM_152419.3(HGSNAT):c.1248T>C (p.Pro416=)
|
|
|
NM_152419.3(HGSNAT):c.1250+10C>A
|
|
|
NM_152419.3(HGSNAT):c.1250+10C>T
|
rs2130805528
|
|
NM_152419.3(HGSNAT):c.1250+12C>T
|
rs1804532623
|
|
NM_152419.3(HGSNAT):c.1250+14T>C
|
|
|
NM_152419.3(HGSNAT):c.1250+15G>C
|
|
|
NM_152419.3(HGSNAT):c.1250+16G>A
|
|
|
NM_152419.3(HGSNAT):c.1250+17G>T
|
|
|
NM_152419.3(HGSNAT):c.1250+18G>A
|
|
|
NM_152419.3(HGSNAT):c.1250+7G>C
|
rs74795999
|
|
NM_152419.3(HGSNAT):c.1251-14T>C
|
|
|
NM_152419.3(HGSNAT):c.1251-4C>G
|
|
|
NM_152419.3(HGSNAT):c.1251-6T>C
|
rs2130807215
|
|
NM_152419.3(HGSNAT):c.1251-8C>A
|
|
|
NM_152419.3(HGSNAT):c.1251-9C>T
|
|
|
NM_152419.3(HGSNAT):c.1269G>A (p.Gly423=)
|
rs2130807297
|
|
NM_152419.3(HGSNAT):c.1275T>C (p.Ile425=)
|
rs1586751999
|
|
NM_152419.3(HGSNAT):c.1281T>C (p.Asp427=)
|
|
|
NM_152419.3(HGSNAT):c.1299T>C (p.Asn433=)
|
rs2130807411
|
|
NM_152419.3(HGSNAT):c.12G>C (p.Ala4=)
|
rs1018475767
|
|
NM_152419.3(HGSNAT):c.12G>T (p.Ala4=)
|
rs1018475767
|
|
NM_152419.3(HGSNAT):c.1314T>C (p.Ala438=)
|
rs776703067
|
|
NM_152419.3(HGSNAT):c.132A>G (p.Lys44=)
|
rs2130677148
|
|
NM_152419.3(HGSNAT):c.1338G>C (p.Leu446=)
|
rs2130807561
|
|
NM_152419.3(HGSNAT):c.1344A>G (p.Gly448=)
|
|
|
NM_152419.3(HGSNAT):c.1353C>T (p.His451=)
|
|
|
NM_152419.3(HGSNAT):c.1371T>A (p.Ser457=)
|
rs947648591
|
|
NM_152419.3(HGSNAT):c.1377+11C>G
|
|
|
NM_152419.3(HGSNAT):c.1377+13C>A
|
|
|
NM_152419.3(HGSNAT):c.1377+13C>T
|
|
|
NM_152419.3(HGSNAT):c.1377+14G>C
|
|
|
NM_152419.3(HGSNAT):c.1377+15A>G
|
|
|
NM_152419.3(HGSNAT):c.1377+15A>T
|
|
|
NM_152419.3(HGSNAT):c.1377+7G>A
|
rs1225445756
|
|
NM_152419.3(HGSNAT):c.1377+9G>C
|
rs2130807739
|
|
NM_152419.3(HGSNAT):c.1378-13T>G
|
rs2130810544
|
|
NM_152419.3(HGSNAT):c.1378-17T>C
|
|
|
NM_152419.3(HGSNAT):c.1380A>T (p.Val460=)
|
|
|
NM_152419.3(HGSNAT):c.138T>C (p.His46=)
|
|
|
NM_152419.3(HGSNAT):c.1392C>A (p.Thr464=)
|
rs767972481
|
|
NM_152419.3(HGSNAT):c.1392C>G (p.Thr464=)
|
rs767972481
|
|
NM_152419.3(HGSNAT):c.1401C>G (p.Ala467=)
|
|
|
NM_152419.3(HGSNAT):c.1401C>T (p.Ala467=)
|
rs1337915028
|
|
NM_152419.3(HGSNAT):c.1404T>C (p.Tyr468=)
|
|
|
NM_152419.3(HGSNAT):c.1416C>T (p.Gly472=)
|
|
|
NM_152419.3(HGSNAT):c.1419C>T (p.Ile473=)
|
|
|
NM_152419.3(HGSNAT):c.1431C>T (p.Ile477=)
|
|
|
NM_152419.3(HGSNAT):c.144G>A (p.Glu48=)
|
rs2130677225
|
|
NM_152419.3(HGSNAT):c.1452T>C (p.Phe484=)
|
|
|
NM_152419.3(HGSNAT):c.1453T>C (p.Leu485=)
|
|
|
NM_152419.3(HGSNAT):c.1455A>G (p.Leu485=)
|
|
|
NM_152419.3(HGSNAT):c.1464+10C>A
|
|
|
NM_152419.3(HGSNAT):c.1464+11A>C
|
|
|
NM_152419.3(HGSNAT):c.1464+11A>G
|
rs573124827
|
|
NM_152419.3(HGSNAT):c.1464+14_1464+18del
|
|
|
NM_152419.3(HGSNAT):c.1464+17T>C
|
|
|
NM_152419.3(HGSNAT):c.1464+9T>A
|
rs1804623128
|
|
NM_152419.3(HGSNAT):c.1465-15T>C
|
|
|
NM_152419.3(HGSNAT):c.1465-16G>A
|
rs2130819513
|
|
NM_152419.3(HGSNAT):c.1465-18C>T
|
|
|
NM_152419.3(HGSNAT):c.1465-19del
|
|
|
NM_152419.3(HGSNAT):c.1465-5T>C
|
rs2130819538
|
|
NM_152419.3(HGSNAT):c.1465-6C>T
|
|
|
NM_152419.3(HGSNAT):c.1465-7C>T
|
rs2130819532
|
|
NM_152419.3(HGSNAT):c.1465-9C>T
|
rs2130819526
|
|
NM_152419.3(HGSNAT):c.1473A>G (p.Lys491=)
|
rs2130819577
|
|
NM_152419.3(HGSNAT):c.1477C>T (p.Leu493=)
|
rs1804746503
|
|
NM_152419.3(HGSNAT):c.1479A>G (p.Leu493=)
|
rs751229126
|
|
NM_152419.3(HGSNAT):c.1480T>C (p.Leu494=)
|
|
|
NM_152419.3(HGSNAT):c.1485T>C (p.Tyr495=)
|
|
|
NM_152419.3(HGSNAT):c.1510C>T (p.Leu504=)
|
|
|
NM_152419.3(HGSNAT):c.1521C>T (p.Phe507=)
|
rs1280407859
|
|
NM_152419.3(HGSNAT):c.1533T>C (p.Cys511=)
|
|
|
NM_152419.3(HGSNAT):c.1536T>C (p.Cys512=)
|
|
|
NM_152419.3(HGSNAT):c.1542+12G>A
|
|
|
NM_152419.3(HGSNAT):c.1543-10C>G
|
|
|
NM_152419.3(HGSNAT):c.1543-10C>T
|
|
|
NM_152419.3(HGSNAT):c.1543-11C>A
|
rs1191230075
|
|
NM_152419.3(HGSNAT):c.1543-12T>G
|
rs768881526
|
|
NM_152419.3(HGSNAT):c.1543-16C>T
|
rs2130821050
|
|
NM_152419.3(HGSNAT):c.1543-19C>T
|
|
|
NM_152419.3(HGSNAT):c.1543-5T>G
|
|
|
NM_152419.3(HGSNAT):c.1545G>T (p.Gly515=)
|
|
|
NM_152419.3(HGSNAT):c.1548C>T (p.Leu516=)
|
|
|
NM_152419.3(HGSNAT):c.1557T>C (p.Val519=)
|
rs2130821179
|
|
NM_152419.3(HGSNAT):c.1558G>A (p.Ala520Thr)
|
rs541318695
|
|
NM_152419.3(HGSNAT):c.1566G>A (p.Thr522=)
|
|
|
NM_152419.3(HGSNAT):c.1566G>C (p.Thr522=)
|
|
|
NM_152419.3(HGSNAT):c.1613+8T>C
|
rs2130821361
|
|
NM_152419.3(HGSNAT):c.1614-11A>G
|
|
|
NM_152419.3(HGSNAT):c.1614-13C>T
|
rs2130821520
|
|
NM_152419.3(HGSNAT):c.1614-16C>T
|
|
|
NM_152419.3(HGSNAT):c.1614-18C>G
|
|
|
NM_152419.3(HGSNAT):c.1614-20G>A
|
|
|
NM_152419.3(HGSNAT):c.1614-5C>T
|
|
|
NM_152419.3(HGSNAT):c.1614-6T>A
|
|
|
NM_152419.3(HGSNAT):c.1614-6T>C
|
rs935366032
|
|
NM_152419.3(HGSNAT):c.1614-7C>T
|
|
|
NM_152419.3(HGSNAT):c.1614-9C>T
|
rs2130821536
|
|
NM_152419.3(HGSNAT):c.1617C>G (p.Ser539=)
|
rs767625503
|
|
NM_152419.3(HGSNAT):c.1617C>T (p.Ser539=)
|
rs767625503
|
|
NM_152419.3(HGSNAT):c.1626T>C (p.Tyr542=)
|
|
|
NM_152419.3(HGSNAT):c.1629C>T (p.Val543=)
|
rs1310490354
|
|
NM_152419.3(HGSNAT):c.1635G>A (p.Thr545=)
|
rs775897635
|
|
NM_152419.3(HGSNAT):c.1635G>C (p.Thr545=)
|
rs775897635
|
|
NM_152419.3(HGSNAT):c.1638C>A (p.Leu546=)
|
rs2130821674
|
|
NM_152419.3(HGSNAT):c.1641T>C (p.Ser547=)
|
|
|
NM_152419.3(HGSNAT):c.1644T>A (p.Ser548=)
|
rs1586758163
|
|
NM_152419.3(HGSNAT):c.1650C>T (p.Ala550=)
|
rs1586758179
|
|
NM_152419.3(HGSNAT):c.1671G>A (p.Leu557=)
|
rs369681926
|
|
NM_152419.3(HGSNAT):c.1677A>G (p.Pro559=)
|
rs2130821776
|
|
NM_152419.3(HGSNAT):c.1680T>G (p.Val560=)
|
rs2130821797
|
|
NM_152419.3(HGSNAT):c.168A>T (p.Leu56=)
|
|
|
NM_152419.3(HGSNAT):c.1692G>A (p.Lys564=)
|
|
|
NM_152419.3(HGSNAT):c.1704A>G (p.Thr568=)
|
rs1804781951
|
|
NM_152419.3(HGSNAT):c.1707A>G (p.Gly569=)
|
|
|
NM_152419.3(HGSNAT):c.1710C>A (p.Thr570=)
|
rs1469124590
|
|
NM_152419.3(HGSNAT):c.1710C>T (p.Thr570=)
|
rs1469124590
|
|
NM_152419.3(HGSNAT):c.1713A>T (p.Pro571=)
|
|
|
NM_152419.3(HGSNAT):c.171C>T (p.Leu57=)
|
|
|
NM_152419.3(HGSNAT):c.1722T>C (p.Tyr574=)
|
|
|
NM_152419.3(HGSNAT):c.1726+10C>T
|
|
|
NM_152419.3(HGSNAT):c.1726+13C>T
|
|
|
NM_152419.3(HGSNAT):c.1726+14A>G
|
|
|
NM_152419.3(HGSNAT):c.1726+15A>C
|
|
|
NM_152419.3(HGSNAT):c.1726+15A>G
|
|
|
NM_152419.3(HGSNAT):c.1726+17C>T
|
rs2130822028
|
|
NM_152419.3(HGSNAT):c.1726+18T>G
|
|
|
NM_152419.3(HGSNAT):c.1726+22dup
|
rs755106287
|
|
NM_152419.3(HGSNAT):c.1727-11C>G
|
rs1370309387
|
|
NM_152419.3(HGSNAT):c.1727-11C>T
|
|
|
NM_152419.3(HGSNAT):c.1727-14TC[3]
|
rs1804842925
|
|
NM_152419.3(HGSNAT):c.1727-15G>A
|
rs2130825457
|
|
NM_152419.3(HGSNAT):c.1727-17A>T
|
rs780686580
|
|
NM_152419.3(HGSNAT):c.1727-19G>A
|
rs369322408
|
|
NM_152419.3(HGSNAT):c.1727-19G>C
|
rs369322408
|
|
NM_152419.3(HGSNAT):c.1727-20T>C
|
|
|
NM_152419.3(HGSNAT):c.1727-4dup
|
|
|
NM_152419.3(HGSNAT):c.1727-5T>A
|
|
|
NM_152419.3(HGSNAT):c.1727-9C>T
|
|
|
NM_152419.3(HGSNAT):c.1746A>G (p.Val582=)
|
|
|
NM_152419.3(HGSNAT):c.1755C>T (p.Gly585=)
|
rs2130825582
|
|
NM_152419.3(HGSNAT):c.1758C>T (p.His586=)
|
rs1420418918
|
|
NM_152419.3(HGSNAT):c.1764G>A (p.Val588=)
|
rs765645520
|
|
NM_152419.3(HGSNAT):c.1776C>T (p.Tyr592=)
|
|
|
NM_152419.3(HGSNAT):c.1782C>G (p.Pro594=)
|
|
|
NM_152419.3(HGSNAT):c.1794G>A (p.Lys598=)
|
|
|
NM_152419.3(HGSNAT):c.1795C>T (p.Leu599=)
|
|
|
NM_152419.3(HGSNAT):c.1800G>A (p.Lys600=)
|
|
|
NM_152419.3(HGSNAT):c.1803C>T (p.Asp601=)
|
rs752160921
|
|
NM_152419.3(HGSNAT):c.1806C>T (p.Asn602=)
|
|
|
NM_152419.3(HGSNAT):c.180T>C (p.Asn60=)
|
|
|
NM_152419.3(HGSNAT):c.1818G>A (p.Lys606=)
|
|
|
NM_152419.3(HGSNAT):c.1824C>T (p.His608=)
|
rs2130825787
|
|
NM_152419.3(HGSNAT):c.183A>G (p.Glu61=)
|
rs2130677470
|
|
NM_152419.3(HGSNAT):c.1842C>A (p.Val614=)
|
rs374563604
|
|
NM_152419.3(HGSNAT):c.1845C>T (p.Ala615=)
|
rs768575788
|
|
NM_152419.3(HGSNAT):c.186T>A (p.Leu62=)
|
|
|
NM_152419.3(HGSNAT):c.186T>C (p.Leu62=)
|
rs1239460572
|
|
NM_152419.3(HGSNAT):c.1872C>T (p.Tyr624=)
|
rs946476629
|
|
NM_152419.3(HGSNAT):c.1878C>A (p.Leu626=)
|
|
|
NM_152419.3(HGSNAT):c.1890G>A (p.Lys630=)
|
|
|
NM_152419.3(HGSNAT):c.18G>A (p.Arg6=)
|
|
|
NM_152419.3(HGSNAT):c.195C>T (p.Thr65=)
|
rs1307220758
|
|
NM_152419.3(HGSNAT):c.204C>A (p.Thr68=)
|
rs199816365
|
|
NM_152419.3(HGSNAT):c.210C>T (p.Tyr70=)
|
rs2130677640
|
|
NM_152419.3(HGSNAT):c.21G>A (p.Ala7=)
|
rs1297145817
|
|
NM_152419.3(HGSNAT):c.234+10A>C
|
|
|
NM_152419.3(HGSNAT):c.234+18C>T
|
rs1802743016
|
|
NM_152419.3(HGSNAT):c.234+20C>G
|
|
|
NM_152419.3(HGSNAT):c.234+20C>T
|
|
|
NM_152419.3(HGSNAT):c.234+8T>A
|
rs1205007842
|
|
NM_152419.3(HGSNAT):c.235-13C>G
|
rs2130713714
|
|
NM_152419.3(HGSNAT):c.235-16G>T
|
|
|
NM_152419.3(HGSNAT):c.235-18T>C
|
|
|
NM_152419.3(HGSNAT):c.235-19G>A
|
|
|
NM_152419.3(HGSNAT):c.235-19G>C
|
|
|
NM_152419.3(HGSNAT):c.235-4A>G
|
rs2130713747
|
|
NM_152419.3(HGSNAT):c.235-9T>G
|
rs913764481
|
|
NM_152419.3(HGSNAT):c.240G>A (p.Leu80=)
|
rs774674978
|
|
NM_152419.3(HGSNAT):c.249T>C (p.Val83=)
|
rs2130713807
|
|
NM_152419.3(HGSNAT):c.255A>G (p.Val85=)
|
|
|
NM_152419.3(HGSNAT):c.261T>C (p.Val87=)
|
rs1461875540
|
|
NM_152419.3(HGSNAT):c.264T>C (p.Pro88=)
|
rs2130713884
|
|
NM_152419.3(HGSNAT):c.273A>G (p.Pro91=)
|
rs2130713942
|
|
NM_152419.3(HGSNAT):c.279A>G (p.Ala93=)
|
rs766369405
|
|
NM_152419.3(HGSNAT):c.27C>A (p.Ala9=)
|
rs1802478612
|
|
NM_152419.3(HGSNAT):c.291T>C (p.Ser97=)
|
rs777514582
|
|
NM_152419.3(HGSNAT):c.294T>C (p.Ala98=)
|
rs2130714083
|
|
NM_152419.3(HGSNAT):c.300T>C (p.Ala100=)
|
rs2130714138
|
|
NM_152419.3(HGSNAT):c.306T>C (p.Ser102=)
|
rs772490276
|
|
NM_152419.3(HGSNAT):c.30G>A (p.Ala10=)
|
|
|
NM_152419.3(HGSNAT):c.315C>T (p.Thr105=)
|
rs1586712156
|
|
NM_152419.3(HGSNAT):c.331C>T (p.Leu111=)
|
rs2130714335
|
|
NM_152419.3(HGSNAT):c.333G>T (p.Leu111=)
|
|
|
NM_152419.3(HGSNAT):c.345C>T (p.Asp115=)
|
rs2130714421
|
|
NM_152419.3(HGSNAT):c.34C>T (p.Leu12=)
|
|
|
NM_152419.3(HGSNAT):c.357G>A (p.Glu119=)
|
|
|
NM_152419.3(HGSNAT):c.371+11G>C
|
|
|
NM_152419.3(HGSNAT):c.371+16G>C
|
|
|
NM_152419.3(HGSNAT):c.371+17T>C
|
|
|
NM_152419.3(HGSNAT):c.371+8C>T
|
rs1803172839
|
|
NM_152419.3(HGSNAT):c.371+9C>T
|
rs1180753142
|
|
NM_152419.3(HGSNAT):c.372-11A>T
|
|
|
NM_152419.3(HGSNAT):c.372-12T>C
|
|
|
NM_152419.3(HGSNAT):c.372-13C>T
|
|
|
NM_152419.3(HGSNAT):c.372-4G>T
|
|
|
NM_152419.3(HGSNAT):c.372-8G>A
|
rs2130715102
|
|
NM_152419.3(HGSNAT):c.372-9T>C
|
|
|
NM_152419.3(HGSNAT):c.378A>G (p.Glu126=)
|
|
|
NM_152419.3(HGSNAT):c.37C>T (p.Leu13=)
|
rs2130647858
|
|
NM_152419.3(HGSNAT):c.402C>T (p.Asn134=)
|
|
|
NM_152419.3(HGSNAT):c.405T>C (p.Tyr135=)
|
rs1803181529
|
|
NM_152419.3(HGSNAT):c.408T>C (p.Ser136=)
|
|
|
NM_152419.3(HGSNAT):c.411C>T (p.Leu137=)
|
rs1051098032
|
|
NM_152419.3(HGSNAT):c.412T>C (p.Leu138=)
|
rs1281457648
|
|
NM_152419.3(HGSNAT):c.417A>G (p.Val139=)
|
rs2130715314
|
|
NM_152419.3(HGSNAT):c.420G>A (p.Lys140=)
|
|
|
NM_152419.3(HGSNAT):c.423C>T (p.Asn141=)
|
|
|
NM_152419.3(HGSNAT):c.429T>C (p.His143=)
|
rs2130715366
|
|
NM_152419.3(HGSNAT):c.42C>A (p.Ala14=)
|
|
|
NM_152419.3(HGSNAT):c.42C>T (p.Ala14=)
|
|
|
NM_152419.3(HGSNAT):c.435A>G (p.Gly145=)
|
|
|
NM_152419.3(HGSNAT):c.45G>C (p.Ala15=)
|
rs1351688097
|
|
NM_152419.3(HGSNAT):c.483T>C (p.Asp161=)
|
rs1803185540
|
|
NM_152419.3(HGSNAT):c.48C>T (p.Ser16=)
|
|
|
NM_152419.3(HGSNAT):c.493+14C>G
|
|
|
NM_152419.3(HGSNAT):c.493+14C>T
|
|
|
NM_152419.3(HGSNAT):c.493+16C>G
|
|
|
NM_152419.3(HGSNAT):c.494-12C>T
|
rs776299194
|
|
NM_152419.3(HGSNAT):c.494-13T>C
|
|
|
NM_152419.3(HGSNAT):c.494-15C>A
|
rs1033103288
|
|
NM_152419.3(HGSNAT):c.494-16T>C
|
|
|
NM_152419.3(HGSNAT):c.494-4C>A
|
rs2130721854
|
|
NM_152419.3(HGSNAT):c.494-8T>A
|
|
|
NM_152419.3(HGSNAT):c.495T>C (p.Pro165=)
|
rs2130721874
|
|
NM_152419.3(HGSNAT):c.510C>T (p.Phe170=)
|
|
|
NM_152419.3(HGSNAT):c.51G>A (p.Val17=)
|
rs1229423417
|
|
NM_152419.3(HGSNAT):c.543C>T (p.Ser181=)
|
rs781682753
|
|
NM_152419.3(HGSNAT):c.547C>T (p.Leu183=)
|
|
|
NM_152419.3(HGSNAT):c.54G>A (p.Leu18=)
|
|
|
NM_152419.3(HGSNAT):c.552G>A (p.Arg184=)
|
|
|
NM_152419.3(HGSNAT):c.563+18G>A
|
|
|
NM_152419.3(HGSNAT):c.563+18G>C
|
|
|
NM_152419.3(HGSNAT):c.563+8A>G
|
rs2130722155
|
|
NM_152419.3(HGSNAT):c.563+9T>C
|
|
|
NM_152419.3(HGSNAT):c.564-10T>A
|
rs2130741799
|
|
NM_152419.3(HGSNAT):c.564-4T>G
|
rs2130741836
|
|
NM_152419.3(HGSNAT):c.564-8A>G
|
rs1803532488
|
|
NM_152419.3(HGSNAT):c.564-8_564-5del
|
|
|
NM_152419.3(HGSNAT):c.570T>C (p.Asp190=)
|
rs2130741857
|
|
NM_152419.3(HGSNAT):c.576T>C (p.Phe192=)
|
rs1563366828
|
|
NM_152419.3(HGSNAT):c.579C>T (p.Asn193=)
|
|
|
NM_152419.3(HGSNAT):c.57C>T (p.Ser19=)
|
|
|
NM_152419.3(HGSNAT):c.582T>C (p.Asn194=)
|
|
|
NM_152419.3(HGSNAT):c.600A>C (p.Ile200=)
|
rs2130741996
|
|
NM_152419.3(HGSNAT):c.618T>C (p.Asp206=)
|
|
|
NM_152419.3(HGSNAT):c.621C>T (p.Arg207=)
|
|
|
NM_152419.3(HGSNAT):c.624C>T (p.Leu208=)
|
|
|
NM_152419.3(HGSNAT):c.633+10G>A
|
|
|
NM_152419.3(HGSNAT):c.633+13A>G
|
|
|
NM_152419.3(HGSNAT):c.633+17A>G
|
|
|
NM_152419.3(HGSNAT):c.633+19A>G
|
|
|
NM_152419.3(HGSNAT):c.633+9T>C
|
rs2130742161
|
|
NM_152419.3(HGSNAT):c.634-16C>T
|
|
|
NM_152419.3(HGSNAT):c.634-18C>G
|
|
|
NM_152419.3(HGSNAT):c.634-20T>G
|
|
|
NM_152419.3(HGSNAT):c.634-8T>A
|
rs2130745626
|
|
NM_152419.3(HGSNAT):c.642A>T (p.Gly214=)
|
rs1321515975
|
|
NM_152419.3(HGSNAT):c.651C>T (p.Ser217=)
|
rs2130745723
|
|
NM_152419.3(HGSNAT):c.652A>C (p.Arg218=)
|
rs541981232
|
|
NM_152419.3(HGSNAT):c.657A>G (p.Thr219=)
|
|
|
NM_152419.3(HGSNAT):c.66G>A (p.Leu22=)
|
rs2130648121
|
|
NM_152419.3(HGSNAT):c.672T>C (p.Gly224=)
|
rs757652049
|
|
NM_152419.3(HGSNAT):c.672T>G (p.Gly224=)
|
rs757652049
|
|
NM_152419.3(HGSNAT):c.675T>C (p.Asp225=)
|
rs951025520
|
|
NM_152419.3(HGSNAT):c.67C>T (p.Leu23=)
|
rs1198688385
|
|
NM_152419.3(HGSNAT):c.681G>A (p.Gln227=)
|
|
|
NM_152419.3(HGSNAT):c.699A>C (p.Leu233=)
|
rs756091468
|
|
NM_152419.3(HGSNAT):c.69G>A (p.Leu23=)
|
rs1563349632
|
|
NM_152419.3(HGSNAT):c.6C>T (p.Ser2=)
|
rs535427008
|
|
NM_152419.3(HGSNAT):c.705C>G (p.Ala235=)
|
|
|
NM_152419.3(HGSNAT):c.705C>T (p.Ala235=)
|
|
|
NM_152419.3(HGSNAT):c.706C>T (p.Leu236=)
|
rs1051692363
|
|
NM_152419.3(HGSNAT):c.708G>A (p.Leu236=)
|
rs2130746047
|
|
NM_152419.3(HGSNAT):c.714C>G (p.Pro238=)
|
rs2130746108
|
|
NM_152419.3(HGSNAT):c.720C>T (p.Leu240=)
|
rs2130746165
|
|
NM_152419.3(HGSNAT):c.72C>T (p.Ala24=)
|
rs2130648208
|
|
NM_152419.3(HGSNAT):c.738C>T (p.Phe246=)
|
|
|
NM_152419.3(HGSNAT):c.743+10C>T
|
rs2130746341
|
|
NM_152419.3(HGSNAT):c.743+13C>G
|
|
|
NM_152419.3(HGSNAT):c.743+17G>A
|
rs1245020116
|
|
NM_152419.3(HGSNAT):c.743+7G>A
|
rs750677179
|
|
NM_152419.3(HGSNAT):c.744-10C>A
|
rs1803651376
|
|
NM_152419.3(HGSNAT):c.744-15G>T
|
|
|
NM_152419.3(HGSNAT):c.744-18T>A
|
|
|
NM_152419.3(HGSNAT):c.744-19C>G
|
|
|
NM_152419.3(HGSNAT):c.744-20T>G
|
|
|
NM_152419.3(HGSNAT):c.744-4C>G
|
rs1312600583
|
|
NM_152419.3(HGSNAT):c.744-5_744-3del
|
rs776162529
|
|
NM_152419.3(HGSNAT):c.744-6T>C
|
|
|
NM_152419.3(HGSNAT):c.750T>C (p.Ala250=)
|
|
|
NM_152419.3(HGSNAT):c.75C>T (p.Pro25=)
|
|
|
NM_152419.3(HGSNAT):c.768T>C (p.Phe256=)
|
rs1188844284
|
|
NM_152419.3(HGSNAT):c.771C>T (p.Val257=)
|
|
|
NM_152419.3(HGSNAT):c.78C>T (p.Gly26=)
|
rs1260742657
|
|
NM_152419.3(HGSNAT):c.792T>C (p.Tyr264=)
|
|
|
NM_152419.3(HGSNAT):c.807T>C (p.His269=)
|
|
|
NM_152419.3(HGSNAT):c.81C>T (p.Gly27=)
|
|
|
NM_152419.3(HGSNAT):c.820+19G>C
|
|
|
NM_152419.3(HGSNAT):c.820+7T>C
|
|
|
NM_152419.3(HGSNAT):c.821-14T>C
|
|
|
NM_152419.3(HGSNAT):c.821-20G>T
|
|
|
NM_152419.3(HGSNAT):c.821-26G>A
|
|
|
NM_152419.3(HGSNAT):c.821-27T>G
|
rs999398262
|
|
NM_152419.3(HGSNAT):c.821-30T>C
|
rs2130754670
|
|
NM_152419.3(HGSNAT):c.821-31C>T
|
|
|
NM_152419.3(HGSNAT):c.821-4G>T
|
rs2130754740
|
|
NM_152419.3(HGSNAT):c.821-5del
|
|
|
NM_152419.3(HGSNAT):c.821-9G>A
|
rs576856787
|
|
NM_152419.3(HGSNAT):c.821-9G>C
|
|
|
NM_152419.3(HGSNAT):c.821-9G>T
|
rs576856787
|
|
NM_152419.3(HGSNAT):c.823C>T (p.Leu275=)
|
|
|
NM_152419.3(HGSNAT):c.851+10C>G
|
rs778394235
|
|
NM_152419.3(HGSNAT):c.851+10C>T
|
rs778394235
|
|
NM_152419.3(HGSNAT):c.851+11G>A
|
|
|
NM_152419.3(HGSNAT):c.851+11G>C
|
|
|
NM_152419.3(HGSNAT):c.851+14C>G
|
rs2130754963
|
|
NM_152419.3(HGSNAT):c.851+16G>C
|
|
|
NM_152419.3(HGSNAT):c.851+16G>T
|
rs1049678342
|
|
NM_152419.3(HGSNAT):c.851+17C>T
|
|
|
NM_152419.3(HGSNAT):c.851+19C>A
|
|
|
NM_152419.3(HGSNAT):c.851+19C>G
|
|
|
NM_152419.3(HGSNAT):c.851+19C>T
|
rs1803714783
|
|
NM_152419.3(HGSNAT):c.852-13A>G
|
rs2130766120
|
|
NM_152419.3(HGSNAT):c.852-16A>G
|
|
|
NM_152419.3(HGSNAT):c.852-7T>G
|
rs2130766132
|
|
NM_152419.3(HGSNAT):c.852-8C>G
|
|
|
NM_152419.3(HGSNAT):c.888G>C (p.Ser296=)
|
|
|
NM_152419.3(HGSNAT):c.909G>A (p.Arg303=)
|
|
|
NM_152419.3(HGSNAT):c.90G>C (p.Gly30=)
|
rs1187482453
|
|
NM_152419.3(HGSNAT):c.912G>T (p.Gly304=)
|
rs771023375
|
|
NM_152419.3(HGSNAT):c.918A>G (p.Ser306=)
|
|
|
NM_152419.3(HGSNAT):c.933G>T (p.Leu311=)
|
rs1458945407
|
|
NM_152419.3(HGSNAT):c.93C>G (p.Arg31=)
|
|
|
NM_152419.3(HGSNAT):c.93C>T (p.Arg31=)
|
|
|
NM_152419.3(HGSNAT):c.945A>T (p.Ala315=)
|
|
|
NM_152419.3(HGSNAT):c.951G>A (p.Arg317=)
|
rs2130766469
|
|
NM_152419.3(HGSNAT):c.996T>C (p.Asn332=)
|
rs1803883258
|
|
NM_152419.3(HGSNAT):c.999T>C (p.Tyr333=)
|
|
|
NM_152419.3(HGSNAT):c.99C>A (p.Ala33=)
|
rs1586689721
|
|
NM_152419.3(HGSNAT):c.99C>G (p.Ala33=)
|
rs1586689721
|
|
NM_152419.3(HGSNAT):c.99C>T (p.Ala33=)
|
|
|
NM_152419.3(HGSNAT):c.9G>A (p.Gly3=)
|
|
|