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.*657C>T
|
rs564023302
|
0.00160
|
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala)
|
rs144461610
|
0.00148
|
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_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.1317C>T (p.Tyr439=)
|
rs146522699
|
0.00044
|
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.780C>T (p.Ala260=)
|
rs530964770
|
0.00023
|
NM_000199.5(SGSH):c.676G>A (p.Val226Ile)
|
rs145967352
|
0.00022
|
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_000199.5(SGSH):c.276C>G (p.His92Gln)
|
rs201478799
|
0.00015
|
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.*471G>A
|
rs138717045
|
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_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.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_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.1462G>A (p.Glu488Lys)
|
rs145645179
|
0.00006
|
NM_000199.5(SGSH):c.432C>T (p.Ser144=)
|
rs200194908
|
0.00006
|
NM_000199.5(SGSH):c.264G>A (p.Met88Ile)
|
rs1178488696
|
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.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.166C>T (p.Arg56Cys)
|
rs761780038
|
0.00004
|
NM_000199.5(SGSH):c.314G>A (p.Arg105Gln)
|
rs375058146
|
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.89C>T (p.Ala30Val)
|
rs767227727
|
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.1303C>T (p.Arg435Cys)
|
rs373496399
|
0.00003
|
NM_000199.5(SGSH):c.1361A>T (p.Asp454Val)
|
rs145490072
|
0.00003
|
NM_000199.5(SGSH):c.1456G>A (p.Val486Ile)
|
rs764585957
|
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.808T>C (p.Phe270Leu)
|
rs570170198
|
0.00003
|
NM_000199.5(SGSH):c.950-65C>T
|
rs537972451
|
0.00003
|
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe)
|
rs780239925
|
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.136G>A (p.Ala46Thr)
|
rs772636496
|
0.00002
|
NM_000199.5(SGSH):c.1371T>C (p.Phe457=)
|
rs867660906
|
0.00002
|
NM_000199.5(SGSH):c.153C>T (p.Asp51=)
|
rs372226239
|
0.00002
|
NM_000199.5(SGSH):c.478C>T (p.Arg160Trp)
|
rs189571889
|
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.65C>T (p.Pro22Leu)
|
rs1212600929
|
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.*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.1108G>A (p.Val370Ile)
|
rs201061563
|
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.1154G>A (p.Arg385His)
|
rs944844493
|
0.00001
|
NM_000199.5(SGSH):c.115G>A (p.Ala39Thr)
|
rs773137508
|
0.00001
|
NM_000199.5(SGSH):c.1190C>T (p.Pro397Leu)
|
rs772080776
|
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.1304G>A (p.Arg435His)
|
rs370528435
|
0.00001
|
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr)
|
rs1057521146
|
0.00001
|
NM_000199.5(SGSH):c.1393C>T (p.Arg465Trp)
|
rs754273400
|
0.00001
|
NM_000199.5(SGSH):c.1419G>C (p.Trp473Cys)
|
rs1453217230
|
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.1453G>A (p.Gly485Ser)
|
rs779083605
|
0.00001
|
NM_000199.5(SGSH):c.1455C>T (p.Gly485=)
|
rs757563981
|
0.00001
|
NM_000199.5(SGSH):c.223G>A (p.Ala75Thr)
|
rs137953179
|
0.00001
|
NM_000199.5(SGSH):c.258T>C (p.Asn86=)
|
rs1425717342
|
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.309G>A (p.Lys103=)
|
rs751641089
|
0.00001
|
NM_000199.5(SGSH):c.355+9C>T
|
rs746912493
|
0.00001
|
NM_000199.5(SGSH):c.356-6G>A
|
rs764808311
|
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.468G>T (p.Lys156Asn)
|
rs780700374
|
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.523G>A (p.Val175Ile)
|
rs753921560
|
0.00001
|
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr)
|
rs1329133410
|
0.00001
|
NM_000199.5(SGSH):c.681C>A (p.Pro227=)
|
rs2041774244
|
0.00001
|
NM_000199.5(SGSH):c.688C>T (p.Pro230Ser)
|
rs756437160
|
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.798A>G (p.Thr266=)
|
rs199562202
|
0.00001
|
NM_000199.5(SGSH):c.813G>A (p.Thr271=)
|
rs779676466
|
0.00001
|
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn)
|
rs1046551417
|
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.896C>T (p.Pro299Leu)
|
rs776306411
|
0.00001
|
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu)
|
rs745884647
|
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.97G>A (p.Gly33Arg)
|
rs398123246
|
0.00001
|
NM_000199.5(SGSH):c.98G>A (p.Gly33Glu)
|
rs762732038
|
0.00001
|
NM_000199.5(SGSH):c.997T>C (p.Tyr333His)
|
rs924984538
|
0.00001
|
NC_000017.10:g.(?_78188394)_(78194112_?)dup
|
|
|
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.1004T>C (p.Ile335Thr)
|
|
|
NM_000199.5(SGSH):c.1013C>T (p.Ser338Leu)
|
|
|
NM_000199.5(SGSH):c.1015A>G (p.Lys339Glu)
|
|
|
NM_000199.5(SGSH):c.1024C>G (p.His342Asp)
|
|
|
NM_000199.5(SGSH):c.1027C>T (p.Leu343Phe)
|
|
|
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.1066C>A (p.Pro356Thr)
|
|
|
NM_000199.5(SGSH):c.1073G>T (p.Trp358Leu)
|
|
|
NM_000199.5(SGSH):c.1079C>A (p.Thr360Asn)
|
|
|
NM_000199.5(SGSH):c.1084T>G (p.Phe362Val)
|
rs1555620294
|
|
NM_000199.5(SGSH):c.1090A>G (p.Ser364Gly)
|
rs2144696405
|
|
NM_000199.5(SGSH):c.1092C>A (p.Ser364Arg)
|
rs1428699412
|
|
NM_000199.5(SGSH):c.111T>A (p.Ser37Arg)
|
rs1434209913
|
|
NM_000199.5(SGSH):c.1127T>C (p.Met376Thr)
|
rs775729169
|
|
NM_000199.5(SGSH):c.1130G>T (p.Arg377Leu)
|
rs746037899
|
|
NM_000199.5(SGSH):c.1144C>T (p.Arg382Trp)
|
|
|
NM_000199.5(SGSH):c.1153C>T (p.Arg385Cys)
|
|
|
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.1183C>T (p.Pro395Ser)
|
|
|
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.1208A>G (p.Tyr403Cys)
|
|
|
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_1244dup (p.Thr416fs)
|
rs1412408576
|
|
NM_000199.5(SGSH):c.1253G>C (p.Gly418Ala)
|
|
|
NM_000199.5(SGSH):c.1268G>C (p.Trp423Ser)
|
rs886053559
|
|
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.1286A>T (p.His429Leu)
|
|
|
NM_000199.5(SGSH):c.1287_1289del (p.Tyr432del)
|
rs1555620148
|
|
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys)
|
rs1567914835
|
|
NM_000199.5(SGSH):c.1304G>T (p.Arg435Leu)
|
rs370528435
|
|
NM_000199.5(SGSH):c.1316A>G (p.Tyr439Cys)
|
rs900198526
|
|
NM_000199.5(SGSH):c.1318G>A (p.Asp440Asn)
|
rs886053558
|
|
NM_000199.5(SGSH):c.1320C>A (p.Asp440Glu)
|
|
|
NM_000199.5(SGSH):c.1327C>T (p.Arg443Trp)
|
|
|
NM_000199.5(SGSH):c.1338C>G (p.His446Gln)
|
rs762208419
|
|
NM_000199.5(SGSH):c.1343C>T (p.Thr448Ile)
|
rs980620540
|
|
NM_000199.5(SGSH):c.1366C>T (p.Arg456Cys)
|
|
|
NM_000199.5(SGSH):c.1380del (p.Leu461fs)
|
rs1555620092
|
|
NM_000199.5(SGSH):c.1394G>A (p.Arg465Gln)
|
|
|
NM_000199.5(SGSH):c.1403T>C (p.Leu468Pro)
|
rs2041599125
|
|
NM_000199.5(SGSH):c.140C>T (p.Thr47Ile)
|
|
|
NM_000199.5(SGSH):c.1416G>C (p.Gln472His)
|
rs1555620072
|
|
NM_000199.5(SGSH):c.1424C>G (p.Thr475Ser)
|
rs2144689101
|
|
NM_000199.5(SGSH):c.1438G>T (p.Val480Leu)
|
rs1474556145
|
|
NM_000199.5(SGSH):c.143C>T (p.Pro48Leu)
|
|
|
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.1450G>A (p.Asp484Asn)
|
|
|
NM_000199.5(SGSH):c.1456G>C (p.Val486Leu)
|
rs764585957
|
|
NM_000199.5(SGSH):c.1462GAG[1] (p.Glu489del)
|
rs1252944094
|
|
NM_000199.5(SGSH):c.146A>G (p.His49Arg)
|
rs1598757846
|
|
NM_000199.5(SGSH):c.1474T>C (p.Ser492Pro)
|
|
|
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.1490C>T (p.Pro497Leu)
|
rs1281022554
|
|
NM_000199.5(SGSH):c.1499A>G (p.Asn500Ser)
|
rs779856036
|
|
NM_000199.5(SGSH):c.151G>A (p.Asp51Asn)
|
rs2144782205
|
|
NM_000199.5(SGSH):c.164G>A (p.Arg55His)
|
|
|
NM_000199.5(SGSH):c.169A>G (p.Ser57Gly)
|
|
|
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg)
|
rs1131691434
|
|
NM_000199.5(SGSH):c.175C>T (p.Leu59Phe)
|
rs1555622928
|
|
NM_000199.5(SGSH):c.182G>A (p.Arg61His)
|
|
|
NM_000199.5(SGSH):c.182G>T (p.Arg61Leu)
|
|
|
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>T (p.Ala63Val)
|
rs985515930
|
|
NM_000199.5(SGSH):c.205A>G (p.Ser69Gly)
|
|
|
NM_000199.5(SGSH):c.211T>C (p.Ser71Pro)
|
rs398123245
|
|
NM_000199.5(SGSH):c.223G>T (p.Ala75Ser)
|
|
|
NM_000199.5(SGSH):c.232C>T (p.Leu78Phe)
|
|
|
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.251A>G (p.His84Arg)
|
rs2144755254
|
|
NM_000199.5(SGSH):c.272T>C (p.Leu91Pro)
|
rs2144755037
|
|
NM_000199.5(SGSH):c.278A>G (p.Gln93Arg)
|
rs2041839563
|
|
NM_000199.5(SGSH):c.288C>A (p.His96Gln)
|
|
|
NM_000199.5(SGSH):c.299C>A (p.Ser100Tyr)
|
|
|
NM_000199.5(SGSH):c.299C>T (p.Ser100Phe)
|
rs2144754691
|
|
NM_000199.5(SGSH):c.304G>A (p.Asp102Asn)
|
|
|
NM_000199.5(SGSH):c.308A>G (p.Lys103Arg)
|
|
|
NM_000199.5(SGSH):c.313C>T (p.Arg105Trp)
|
|
|
NM_000199.5(SGSH):c.323C>T (p.Pro108Leu)
|
|
|
NM_000199.5(SGSH):c.323_331del (p.Pro108_Leu110del)
|
|
|
NM_000199.5(SGSH):c.335G>C (p.Ser112Thr)
|
rs773947080
|
|
NM_000199.5(SGSH):c.344G>C (p.Gly115Ala)
|
rs770321343
|
|
NM_000199.5(SGSH):c.344G>T (p.Gly115Val)
|
|
|
NM_000199.5(SGSH):c.350G>A (p.Arg117His)
|
|
|
NM_000199.5(SGSH):c.356-3C>G
|
rs1361176382
|
|
NM_000199.5(SGSH):c.359_360delinsAT (p.Ile120Asn)
|
|
|
NM_000199.5(SGSH):c.35T>G (p.Leu12Arg)
|
|
|
NM_000199.5(SGSH):c.367AAG[1] (p.Lys124del)
|
rs1555621974
|
|
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.380G>A (p.Gly127Glu)
|
|
|
NM_000199.5(SGSH):c.385G>C (p.Glu129Gln)
|
|
|
NM_000199.5(SGSH):c.389C>T (p.Thr130Ile)
|
|
|
NM_000199.5(SGSH):c.38T>C (p.Leu13Pro)
|
|
|
NM_000199.5(SGSH):c.398C>T (p.Pro133Leu)
|
rs781743238
|
|
NM_000199.5(SGSH):c.406T>A (p.Phe136Ile)
|
|
|
NM_000199.5(SGSH):c.415A>T (p.Thr139Ser)
|
rs760564328
|
|
NM_000199.5(SGSH):c.430T>A (p.Ser144Thr)
|
|
|
NM_000199.5(SGSH):c.433G>A (p.Val145Ile)
|
|
|
NM_000199.5(SGSH):c.437T>C (p.Leu146Pro)
|
rs749358773
|
|
NM_000199.5(SGSH):c.475G>A (p.Val159Ile)
|
|
|
NM_000199.5(SGSH):c.479G>A (p.Arg160Gln)
|
|
|
NM_000199.5(SGSH):c.479G>T (p.Arg160Leu)
|
|
|
NM_000199.5(SGSH):c.483A>G (p.Lys161=)
|
rs2144748407
|
|
NM_000199.5(SGSH):c.48_50dup (p.Leu17dup)
|
rs1555624091
|
|
NM_000199.5(SGSH):c.506+13G>T
|
rs201177560
|
|
NM_000199.5(SGSH):c.506+3A>G
|
rs1460108613
|
|
NM_000199.5(SGSH):c.508C>G (p.Pro170Ala)
|
|
|
NM_000199.5(SGSH):c.526G>A (p.Ala176Thr)
|
|
|
NM_000199.5(SGSH):c.527C>G (p.Ala176Gly)
|
rs760996554
|
|
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.542A>G (p.His181Arg)
|
rs776228545
|
|
NM_000199.5(SGSH):c.563C>T (p.Pro188Leu)
|
|
|
NM_000199.5(SGSH):c.580T>C (p.Cys194Arg)
|
|
|
NM_000199.5(SGSH):c.58G>C (p.Ala20Pro)
|
|
|
NM_000199.5(SGSH):c.607G>A (p.Gly203Ser)
|
|
|
NM_000199.5(SGSH):c.617G>A (p.Arg206His)
|
|
|
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.632C>T (p.Thr211Ile)
|
|
|
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys)
|
rs200644359
|
|
NM_000199.5(SGSH):c.637C>G (p.Gln213Glu)
|
|
|
NM_000199.5(SGSH):c.643T>C (p.Tyr215His)
|
|
|
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.663+3A>G
|
rs2144741879
|
|
NM_000199.5(SGSH):c.663+3dup
|
|
|
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)
|
rs34520362
|
|
NM_000199.5(SGSH):c.67C>G (p.Arg23Gly)
|
|
|
NM_000199.5(SGSH):c.697C>G (p.Arg233Gly)
|
rs374621913
|
|
NM_000199.5(SGSH):c.712G>A (p.Ala238Thr)
|
|
|
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.726C>T (p.Thr242=)
|
rs1347877363
|
|
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu)
|
rs104894635
|
|
NM_000199.5(SGSH):c.736A>G (p.Met246Val)
|
|
|
NM_000199.5(SGSH):c.745G>A (p.Gly249Arg)
|
|
|
NM_000199.5(SGSH):c.746-5_746-4inv
|
|
|
NM_000199.5(SGSH):c.746-6C>G
|
|
|
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.751G>A (p.Gly251Arg)
|
|
|
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.784G>A (p.Val262Ile)
|
|
|
NM_000199.5(SGSH):c.793G>A (p.Asp265Asn)
|
rs1350874932
|
|
NM_000199.5(SGSH):c.803T>C (p.Val268Ala)
|
|
|
NM_000199.5(SGSH):c.821A>G (p.Asn274Ser)
|
rs2144716819
|
|
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.841G>A (p.Gly281Ser)
|
|
|
NM_000199.5(SGSH):c.841G>T (p.Gly281Cys)
|
rs541222703
|
|
NM_000199.5(SGSH):c.863C>T (p.Pro288Leu)
|
|
|
NM_000199.5(SGSH):c.87C>A (p.Leu29=)
|
|
|
NM_000199.5(SGSH):c.88+5G>C
|
rs2144831735
|
|
NM_000199.5(SGSH):c.88G>A (p.Ala30Thr)
|
|
|
NM_000199.5(SGSH):c.88G>T (p.Ala30Ser)
|
|
|
NM_000199.5(SGSH):c.89-18_89-15del
|
rs768357480
|
|
NM_000199.5(SGSH):c.899A>C (p.Glu300Ala)
|
|
|
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.916G>T (p.Gly306Cys)
|
rs1598742412
|
|
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg)
|
rs1385473515
|
|
NM_000199.5(SGSH):c.928G>A (p.Glu310Lys)
|
|
|
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.949+4_949+5insA
|
|
|
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.980C>T (p.Ser327Leu)
|
|
|
NM_000199.5(SGSH):c.981G>A (p.Ser327=)
|
rs143223388
|
|