NM_000520.6(HEXA):c.672+30T>G
|
rs117160567
|
0.01494
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_000520.6(HEXA):c.1073+1G>A
|
rs76173977
|
0.00021
|
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00015
|
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)
|
rs587779406
|
0.00011
|
NM_000520.6(HEXA):c.459+5G>A
|
rs762060470
|
0.00009
|
NM_000520.6(HEXA):c.806-7G>A
|
rs770932296
|
0.00006
|
NM_000520.6(HEXA):c.460-1G>T
|
rs764343937
|
0.00005
|
NM_000520.6(HEXA):c.533G>A (p.Arg178His)
|
rs28941770
|
0.00005
|
NM_000520.6(HEXA):c.1496G>A (p.Arg499His)
|
rs121907956
|
0.00004
|
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter)
|
rs121907962
|
0.00004
|
NM_000520.6(HEXA):c.986+3A>G
|
rs200926928
|
0.00004
|
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys)
|
rs121907958
|
0.00003
|
NM_000520.6(HEXA):c.1421+1G>C
|
rs147324677
|
0.00002
|
NM_000520.6(HEXA):c.1511G>A (p.Arg504His)
|
rs121907955
|
0.00002
|
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys)
|
rs121907953
|
0.00002
|
NM_000520.6(HEXA):c.571-1G>T
|
rs185429231
|
0.00002
|
NM_000520.6(HEXA):c.1168del (p.Gln390fs)
|
rs772879726
|
0.00001
|
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter)
|
rs121907963
|
0.00001
|
NM_000520.6(HEXA):c.139C>T (p.Gln47Ter)
|
rs745996955
|
0.00001
|
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys)
|
rs121907981
|
0.00001
|
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)
|
rs121907952
|
0.00001
|
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)
|
rs121907966
|
0.00001
|
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)
|
rs28942071
|
0.00001
|
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter)
|
rs786204585
|
0.00001
|
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter)
|
rs759092928
|
0.00001
|
NM_000520.6(HEXA):c.1A>G (p.Met1Val)
|
rs121907965
|
0.00001
|
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)
|
rs769035623
|
0.00001
|
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)
|
rs786204721
|
0.00001
|
NM_000520.6(HEXA):c.32T>C (p.Leu11Pro)
|
rs141120074
|
0.00001
|
NM_000520.6(HEXA):c.346+1G>C
|
rs797044432
|
0.00001
|
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)
|
rs121907972
|
0.00001
|
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln)
|
rs121907957
|
0.00001
|
NM_000520.6(HEXA):c.536A>G (p.His179Arg)
|
rs747372270
|
0.00001
|
NM_000520.6(HEXA):c.570G>T (p.Leu190=)
|
rs1188885214
|
0.00001
|
NM_000520.6(HEXA):c.72G>A (p.Trp24Ter)
|
rs1555475519
|
0.00001
|
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)
|
rs566580738
|
0.00001
|
NM_000520.6(HEXA):c.755G>A (p.Arg252His)
|
rs762255098
|
0.00001
|
NM_000520.6(HEXA):c.772G>C (p.Asp258His)
|
rs121907971
|
0.00001
|
NM_000520.6(HEXA):c.805+1G>C
|
rs121907980
|
0.00001
|
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter)
|
rs751393950
|
0.00001
|
NM_000520.6(HEXA):c.917T>G (p.Leu306Ter)
|
rs1567297439
|
0.00001
|
GRCh37/hg19 15q23(chr15:72662932-72670877)
|
|
|
NC_000015.10:g.(?_72350508)_(72351244_?)del
|
|
|
NC_000015.10:g.(?_72374460)_(72375992_?)del
|
|
|
NC_000015.10:g.72647900_72648958del
|
|
|
NC_000015.9:g.(72648959_72668060)_(72668815_?)del
|
|
|
NC_000015.9:g.(?_72636408)_(72636491_?)del
|
|
|
NC_000015.9:g.(?_72637535)_(72639061_?)del
|
|
|
NC_000015.9:g.(?_72638556)_(72639071_?)del
|
|
|
NC_000015.9:g.(?_72638867)_(72641658_?)del
|
|
|
NC_000015.9:g.(?_72646063)_(72653091_?)del
|
|
|
NC_000015.9:g.(?_72662933)_72670877del
|
|
|
NM_000520.6(HEXA):c.1014del (p.Phe338fs)
|
|
|
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs)
|
rs1057516755
|
|
NM_000520.6(HEXA):c.1053_1054delinsTCCAGCTTGA (p.Glu352delinsProAlaTer)
|
|
|
NM_000520.6(HEXA):c.1069C>T (p.Gln357Ter)
|
|
|
NM_000520.6(HEXA):c.1073+1G>C
|
rs76173977
|
|
NM_000520.6(HEXA):c.107dup (p.Tyr37fs)
|
|
|
NM_000520.6(HEXA):c.1088dup (p.Ser364fs)
|
|
|
NM_000520.6(HEXA):c.1092_1093del (p.Ser365fs)
|
|
|
NM_000520.6(HEXA):c.1098T>A (p.Tyr366Ter)
|
rs979690054
|
|
NM_000520.6(HEXA):c.1098T>G (p.Tyr366Ter)
|
rs979690054
|
|
NM_000520.6(HEXA):c.110dup (p.Tyr37Ter)
|
|
|
NM_000520.6(HEXA):c.1114del (p.Val372fs)
|
rs2140321846
|
|
NM_000520.6(HEXA):c.1121A>C (p.Gln374Pro)
|
rs1057519464
|
|
NM_000520.6(HEXA):c.1123del (p.Glu375fs)
|
rs766138785
|
|
NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer)
|
rs1555472553
|
|
NM_000520.6(HEXA):c.1142_1146del (p.Val381fs)
|
rs1595798033
|
|
NM_000520.6(HEXA):c.1147-1G>T
|
rs2088620169
|
|
NM_000520.6(HEXA):c.1160_1161del (p.Thr387fs)
|
|
|
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter)
|
rs988192535
|
|
NM_000520.6(HEXA):c.1176G>A (p.Trp392Ter)
|
rs267606862
|
|
NM_000520.6(HEXA):c.1178G>C (p.Arg393Pro)
|
rs370266293
|
|
NM_000520.6(HEXA):c.1183del (p.Asp395fs)
|
rs770303210
|
|
NM_000520.6(HEXA):c.118del (p.Tyr40fs)
|
rs2140344667
|
|
NM_000520.6(HEXA):c.1220del (p.Val407fs)
|
rs2140320741
|
|
NM_000520.6(HEXA):c.1250_1251del (p.Ser417fs)
|
|
|
NM_000520.6(HEXA):c.1257dup (p.Trp420fs)
|
|
|
NM_000520.6(HEXA):c.1258del (p.Trp420fs)
|
rs1216659000
|
|
NM_000520.6(HEXA):c.1275_1278dup (p.Tyr427fs)
|
rs1555472406
|
|
NM_000520.6(HEXA):c.1293G>A (p.Trp431Ter)
|
|
|
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs)
|
rs777042785
|
|
NM_000520.6(HEXA):c.1330+1G>A
|
rs767041069
|
|
NM_000520.6(HEXA):c.1330+2T>C
|
rs2140320568
|
|
NM_000520.6(HEXA):c.1338del (p.Glu447fs)
|
|
|
NM_000520.6(HEXA):c.1349del (p.Ala450fs)
|
rs1057519466
|
|
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp)
|
rs1229811721
|
|
NM_000520.6(HEXA):c.1364del (p.Gly455fs)
|
|
|
NM_000520.6(HEXA):c.1382G>T (p.Gly461Val)
|
|
|
NM_000520.6(HEXA):c.1385A>T (p.Glu462Val)
|
rs863225434
|
|
NM_000520.6(HEXA):c.1389T>A (p.Tyr463Ter)
|
|
|
NM_000520.6(HEXA):c.1419_1420del (p.Trp474fs)
|
rs987921756
|
|
NM_000520.6(HEXA):c.1421+1G>T
|
rs147324677
|
|
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter)
|
rs762374961
|
|
NM_000520.6(HEXA):c.1422-1G>T
|
rs1555472296
|
|
NM_000520.6(HEXA):c.1422-2A>G
|
|
|
NM_000520.6(HEXA):c.1429_1445del (p.Ala477fs)
|
rs2140319638
|
|
NM_000520.6(HEXA):c.1432G>A (p.Gly478Arg)
|
rs1057519467
|
|
NM_000520.6(HEXA):c.1435del (p.Ala479fs)
|
rs2088601317
|
|
NM_000520.6(HEXA):c.1444G>T (p.Glu482Ter)
|
rs121907952
|
|
NM_000520.6(HEXA):c.144C>G (p.Tyr48Ter)
|
rs2140344619
|
|
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter)
|
rs1057519468
|
|
NM_000520.6(HEXA):c.1455G>A (p.Trp485Ter)
|
rs2140319619
|
|
NM_000520.6(HEXA):c.1491T>G (p.Tyr497Ter)
|
|
|
NM_000520.6(HEXA):c.1499del (p.Leu500fs)
|
rs1567295184
|
|
NM_000520.6(HEXA):c.1510del (p.Arg504fs)
|
rs797044433
|
|
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu)
|
rs121907955
|
|
NM_000520.6(HEXA):c.1525_1526+27del
|
rs2140319516
|
|
NM_000520.6(HEXA):c.1526+1G>A
|
|
|
NM_000520.6(HEXA):c.1526+1G>T
|
rs1309204908
|
|
NM_000520.6(HEXA):c.1537C>T (p.Gln513Ter)
|
|
|
NM_000520.6(HEXA):c.1549dup (p.Leu517fs)
|
rs1555472161
|
|
NM_000520.6(HEXA):c.155C>A (p.Ser52Ter)
|
rs987036804
|
|
NM_000520.6(HEXA):c.196del (p.Gln66fs)
|
|
|
NM_000520.6(HEXA):c.19del (p.Trp7fs)
|
|
|
NM_000520.6(HEXA):c.1A>C (p.Met1Leu)
|
rs121907965
|
|
NM_000520.6(HEXA):c.1A>T (p.Met1Leu)
|
rs121907965
|
|
NM_000520.6(HEXA):c.20G>A (p.Trp7Ter)
|
rs751546658
|
|
NM_000520.6(HEXA):c.226_242del (p.Gly76fs)
|
rs2140344404
|
|
NM_000520.6(HEXA):c.228del (p.Ser77fs)
|
|
|
NM_000520.6(HEXA):c.237_253+7del
|
rs770628999
|
|
NM_000520.6(HEXA):c.25dup (p.Ser9fs)
|
|
|
NM_000520.6(HEXA):c.26C>A (p.Ser9Ter)
|
rs769370282
|
|
NM_000520.6(HEXA):c.276dup (p.Asn93fs)
|
rs2088785055
|
|
NM_000520.6(HEXA):c.289_290del (p.Val97fs)
|
rs2140329051
|
|
NM_000520.6(HEXA):c.310_313dup (p.Asn105delinsMetTer)
|
rs2088783222
|
|
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter)
|
rs773446161
|
|
NM_000520.6(HEXA):c.32del (p.Leu11fs)
|
rs2140344855
|
|
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys)
|
rs748190164
|
|
NM_000520.6(HEXA):c.346+1G>A
|
rs797044432
|
|
NM_000520.6(HEXA):c.346+1G>T
|
rs797044432
|
|
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg)
|
rs121907975
|
|
NM_000520.6(HEXA):c.395_398del (p.Val132fs)
|
rs2140328176
|
|
NM_000520.6(HEXA):c.397del (p.Trp133fs)
|
rs2088765656
|
|
NM_000520.6(HEXA):c.3G>A (p.Met1Ile)
|
rs1595816410
|
|
NM_000520.6(HEXA):c.3G>T (p.Met1Ile)
|
|
|
NM_000520.6(HEXA):c.413-2A>G
|
rs2088733862
|
|
NM_000520.6(HEXA):c.422del (p.Thr141fs)
|
rs2088733629
|
|
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer)
|
rs1057519458
|
|
NM_000520.6(HEXA):c.426del (p.Phe142fs)
|
rs1057519458
|
|
NM_000520.6(HEXA):c.430C>T (p.Gln144Ter)
|
rs1595802191
|
|
NM_000520.6(HEXA):c.441G>A (p.Trp147Ter)
|
|
|
NM_000520.6(HEXA):c.459+24G>C
|
|
|
NM_000520.6(HEXA):c.459+4A>C
|
rs1057519459
|
|
NM_000520.6(HEXA):c.460-2A>G
|
|
|
NM_000520.6(HEXA):c.465del (p.Phe155fs)
|
rs1057516850
|
|
NM_000520.6(HEXA):c.477_478del (p.Glu160fs)
|
|
|
NM_000520.6(HEXA):c.492del (p.Arg166fs)
|
rs2140326388
|
|
NM_000520.6(HEXA):c.496del (p.Arg166fs)
|
rs2088724288
|
|
NM_000520.6(HEXA):c.51_52insAGTTTTCGCTGCTGCTGGCGGCAGCGTTCGCA (p.Gly18fs)
|
rs2140344825
|
|
NM_000520.6(HEXA):c.521dup (p.Leu174fs)
|
|
|
NM_000520.6(HEXA):c.524A>C (p.Asp175Ala)
|
rs1057519460
|
|
NM_000520.6(HEXA):c.546dup (p.Leu183fs)
|
rs1595801740
|
|
NM_000520.6(HEXA):c.551_552del (p.Leu183_Ser184insTer)
|
rs1555473070
|
|
NM_000520.6(HEXA):c.568_569del (p.Leu190fs)
|
rs2088721832
|
|
NM_000520.6(HEXA):c.570+1G>A
|
rs786204754
|
|
NM_000520.6(HEXA):c.570G>A (p.Leu190=)
|
|
|
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly)
|
rs1002712424
|
|
NM_000520.6(HEXA):c.60_61dup (p.Thr21fs)
|
rs1057517296
|
|
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe)
|
rs121907961
|
|
NM_000520.6(HEXA):c.631_634del (p.Phe211fs)
|
rs2088690227
|
|
NM_000520.6(HEXA):c.637T>C (p.Tyr213His)
|
rs1057519461
|
|
NM_000520.6(HEXA):c.672+1G>A
|
rs387906311
|
|
NM_000520.6(HEXA):c.672+1G>T
|
|
|
NM_000520.6(HEXA):c.672+2T>C
|
rs2140324625
|
|
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter)
|
rs150675340
|
|
NM_000520.6(HEXA):c.718_719insT (p.Lys240fs)
|
rs587779407
|
|
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr)
|
rs758166013
|
|
NM_000520.6(HEXA):c.743del (p.Leu248fs)
|
rs2140324174
|
|
NM_000520.6(HEXA):c.749del (p.Gly250fs)
|
|
|
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile)
|
rs1057519462
|
|
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter)
|
rs121907964
|
|
NM_000520.6(HEXA):c.797G>A (p.Trp266Ter)
|
|
|
NM_000520.6(HEXA):c.805+1G>A
|
rs121907980
|
|
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg)
|
rs121907954
|
|
NM_000520.6(HEXA):c.834C>G (p.Tyr278Ter)
|
|
|
NM_000520.6(HEXA):c.855_856insTC (p.Thr286fs)
|
|
|
NM_000520.6(HEXA):c.898_905del (p.Phe300fs)
|
rs1057519463
|
|
NM_000520.6(HEXA):c.902T>G (p.Met301Arg)
|
rs121907977
|
|
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del)
|
rs121907960
|
|
NM_000520.6(HEXA):c.91C>T (p.Gln31Ter)
|
rs556872918
|
|
NM_000520.6(HEXA):c.929_930del (p.Ser310fs)
|
rs751248523
|
|
NM_000520.6(HEXA):c.938del (p.Pro313fs)
|
rs2140322934
|
|
NM_000520.6(HEXA):c.964G>A (p.Asp322Asn)
|
rs772180415
|
|
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)
|
rs772180415
|
|
NM_000520.6(HEXA):c.965A>G (p.Asp322Gly)
|
|
|
NM_000520.6(HEXA):c.967G>T (p.Glu323Ter)
|
|
|
NM_000520.6(HEXA):c.986G>A (p.Trp329Ter)
|
|
|
NM_000520.6(HEXA):c.995A>T (p.Asn332Ile)
|
rs2140322212
|
|