NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)
|
rs138976576
|
0.00133
|
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly)
|
rs3743088
|
0.00042
|
NM_000520.6(HEXA):c.545C>T (p.Pro182Leu)
|
rs148511084
|
0.00018
|
NM_000520.6(HEXA):c.1475A>G (p.Asp492Gly)
|
rs761736583
|
0.00016
|
NM_000520.6(HEXA):c.1229C>T (p.Ala410Val)
|
rs151251788
|
0.00015
|
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln)
|
rs370266293
|
0.00012
|
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser)
|
rs369117208
|
0.00012
|
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro)
|
rs146938346
|
0.00011
|
NM_000520.6(HEXA):c.581C>T (p.Ala194Val)
|
rs778947516
|
0.00010
|
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=)
|
rs200553205
|
0.00010
|
NM_000520.6(HEXA):c.38C>T (p.Ala13Val)
|
rs145666272
|
0.00009
|
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys)
|
rs147502219
|
0.00007
|
NM_000520.6(HEXA):c.1237C>T (p.Arg413Trp)
|
rs762494949
|
0.00006
|
NM_000520.6(HEXA):c.286G>A (p.Val96Ile)
|
rs868358306
|
0.00006
|
NM_017882.3(CLN6):c.728C>T (p.Ala243Val)
|
rs767164948
|
0.00006
|
NM_000520.6(HEXA):c.53G>A (p.Gly18Glu)
|
rs371133961
|
0.00005
|
NM_000391.4(TPP1):c.225A>G (p.Gln75=)
|
rs368709098
|
0.00004
|
NM_000520.6(HEXA):c.1084A>G (p.Ile362Val)
|
rs771447407
|
0.00004
|
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser)
|
rs575121167
|
0.00004
|
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser)
|
rs121907982
|
0.00004
|
NM_000784.4(CYP27A1):c.1582C>T (p.Gln528Ter)
|
rs376609492
|
0.00004
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr)
|
rs556745324
|
0.00004
|
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu)
|
rs587780316
|
0.00004
|
NM_017882.3(CLN6):c.755G>A (p.Arg252His)
|
rs374681194
|
0.00004
|
NM_000391.4(TPP1):c.887-18A>G
|
rs935526225
|
0.00003
|
NM_000784.4(CYP27A1):c.674G>A (p.Arg225His)
|
rs753275244
|
0.00003
|
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp)
|
rs886285802
|
0.00003
|
NM_017882.3(CLN6):c.446G>A (p.Arg149His)
|
rs154774638
|
0.00003
|
NM_018941.4(CLN8):c.470A>G (p.His157Arg)
|
rs149308952
|
0.00003
|
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp)
|
rs573269641
|
0.00002
|
NM_000520.6(HEXA):c.497G>A (p.Arg166His)
|
rs398123442
|
0.00002
|
NM_000521.4(HEXB):c.1417+5G>A
|
rs763517499
|
0.00002
|
NM_000521.4(HEXB):c.1614-16_1615dup
|
rs1554037309
|
0.00002
|
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)
|
rs154774634
|
0.00002
|
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser)
|
rs763944821
|
0.00002
|
NM_000391.4(TPP1):c.1642T>C (p.Trp548Arg)
|
rs1348967263
|
0.00001
|
NM_000520.6(HEXA):c.*12C>T
|
rs532797279
|
0.00001
|
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser)
|
rs775322979
|
0.00001
|
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn)
|
rs759157781
|
0.00001
|
NM_000520.6(HEXA):c.1103A>G (p.Lys368Arg)
|
rs764291005
|
0.00001
|
NM_000520.6(HEXA):c.1275A>G (p.Ile425Met)
|
rs749368995
|
0.00001
|
NM_000520.6(HEXA):c.1319T>C (p.Leu440Pro)
|
rs752223090
|
0.00001
|
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro)
|
rs144089645
|
0.00001
|
NM_000520.6(HEXA):c.1351C>G (p.Leu451Val)
|
rs28940871
|
0.00001
|
NM_000520.6(HEXA):c.1375A>G (p.Met459Val)
|
rs547192168
|
0.00001
|
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)
|
rs750727201
|
0.00001
|
NM_000520.6(HEXA):c.260G>A (p.Arg87Gln)
|
rs766966378
|
0.00001
|
NM_000520.6(HEXA):c.346+2dup
|
rs1430416918
|
0.00001
|
NM_000520.6(HEXA):c.388G>C (p.Glu130Gln)
|
rs917904407
|
0.00001
|
NM_000520.6(HEXA):c.428G>T (p.Ser143Ile)
|
rs1273494297
|
0.00001
|
NM_000520.6(HEXA):c.535C>T (p.His179Tyr)
|
rs781493030
|
0.00001
|
NM_000520.6(HEXA):c.598G>A (p.Val200Met)
|
rs1800429
|
0.00001
|
NM_000520.6(HEXA):c.749G>T (p.Gly250Val)
|
rs121907959
|
0.00001
|
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser)
|
rs762892362
|
0.00001
|
NM_000521.4(HEXB):c.1615C>T (p.Arg539Cys)
|
rs749646826
|
0.00001
|
NM_000521.4(HEXB):c.341_343del (p.Glu114_Pro115delinsAla)
|
rs768218036
|
0.00001
|
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro)
|
rs938611392
|
0.00001
|
NM_000521.4(HEXB):c.512-3C>A
|
rs1376742145
|
0.00001
|
NM_000521.4(HEXB):c.558+5G>A
|
rs892920643
|
0.00001
|
NM_000784.4(CYP27A1):c.1175A>C (p.Glu392Ala)
|
rs1245201394
|
0.00001
|
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)
|
rs560108684
|
0.00001
|
NM_000784.4(CYP27A1):c.1588C>T (p.Gln530Ter)
|
rs747389432
|
0.00001
|
NM_000784.4(CYP27A1):c.1591del (p.Cys531fs)
|
rs755723759
|
0.00001
|
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys)
|
rs587780327
|
0.00001
|
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)
|
rs72551312
|
0.00001
|
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)
|
rs587778796
|
0.00001
|
NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu)
|
rs796052338
|
0.00001
|
NM_001042432.2(CLN3):c.837+5G>A
|
rs756848924
|
0.00001
|
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys)
|
rs1451777867
|
0.00001
|
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys)
|
rs796052352
|
0.00001
|
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys)
|
rs750081097
|
0.00001
|
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)
|
rs750937323
|
0.00001
|
NM_018941.4(CLN8):c.611G>A (p.Arg204His)
|
rs386834134
|
0.00001
|
NM_032380.5(GFM2):c.2296C>T (p.Gln766Ter)
|
rs1407085233
|
0.00001
|
NM_000391.4(TPP1):c.1042_1047del (p.Ala348_Ala349del)
|
rs1554901785
|
|
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)
|
rs1554901784
|
|
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer)
|
rs763961289
|
|
NM_000391.4(TPP1):c.457T>C (p.Ser153Pro)
|
rs1554902028
|
|
NM_000391.4(TPP1):c.508+2dup
|
rs1554902017
|
|
NM_000391.4(TPP1):c.731T>C (p.Met244Thr)
|
rs1554901895
|
|
NM_000391.4(TPP1):c.833A>C (p.Gln278Pro)
|
rs796053439
|
|
NM_000520.6(HEXA):c.-1dup (p.Met1fs)
|
rs1555475553
|
|
NM_000520.6(HEXA):c.-7_1del (p.Met1fs)
|
rs759154405
|
|
NM_000520.6(HEXA):c.1003A>T (p.Ile335Phe)
|
rs1555472604
|
|
NM_000520.6(HEXA):c.1008G>C (p.Gln336His)
|
rs1555472602
|
|
NM_000520.6(HEXA):c.101A>G (p.Asp34Gly)
|
rs1555475512
|
|
NM_000520.6(HEXA):c.1022A>G (p.Lys341Arg)
|
rs1417593132
|
|
NM_000520.6(HEXA):c.1074-7_1074-3del
|
rs759219683
|
|
NM_000520.6(HEXA):c.1087G>A (p.Val363Ile)
|
rs557550173
|
|
NM_000520.6(HEXA):c.1146+18A>G
|
rs1555472543
|
|
NM_000520.6(HEXA):c.1189C>T (p.Pro397Ser)
|
rs778878211
|
|
NM_000520.6(HEXA):c.1214_1219del (p.403_404EL[1])
|
rs1555472429
|
|
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp)
|
rs1229811721
|
|
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg)
|
rs121907968
|
|
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu)
|
rs121907955
|
|
NM_000520.6(HEXA):c.1571del (p.Gln524fs)
|
rs1555472158
|
|
NM_000520.6(HEXA):c.1578del (p.Phe526fs)
|
rs1555472157
|
|
NM_000520.6(HEXA):c.211C>G (p.Leu71Val)
|
rs775000497
|
|
NM_000520.6(HEXA):c.218_219insAAA (p.Phe73delinsLeuAsn)
|
rs1555475468
|
|
NM_000520.6(HEXA):c.304C>T (p.Pro102Ser)
|
rs1217876329
|
|
NM_000520.6(HEXA):c.446CTG[1] (p.Ala150del)
|
rs1555473140
|
|
NM_000520.6(HEXA):c.530C>G (p.Ser177Cys)
|
rs1064794856
|
|
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)
|
rs121907973
|
|
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly)
|
rs1002712424
|
|
NM_000520.6(HEXA):c.611A>G (p.His204Arg)
|
rs121907976
|
|
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr)
|
rs758166013
|
|
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser)
|
rs1057521137
|
|
NM_000520.6(HEXA):c.941A>T (p.Asp314Val)
|
rs1555472696
|
|
NM_000521.4(HEXB):c.*4dup (p.Ter557=)
|
rs771506320
|
|
NM_000521.4(HEXB):c.127G>T (p.Ala43Ser)
|
rs797045614
|
|
NM_000521.4(HEXB):c.1425GAAACA[1] (p.476KQ[1])
|
rs750595127
|
|
NM_000521.4(HEXB):c.1613+15_1613+18dup
|
rs779273534
|
|
NM_000521.4(HEXB):c.1614-25_1614-7dup
|
rs1554037306
|
|
NM_000521.4(HEXB):c.1614-8_1614-6dup
|
rs1271274603
|
|
NM_000521.4(HEXB):c.1627_1638del (p.Ala543_Leu546del)
|
rs1554037322
|
|
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr)
|
rs727503961
|
|
NM_000521.4(HEXB):c.230_232del (p.Phe77del)
|
rs1554034490
|
|
NM_000521.4(HEXB):c.343_351del (p.Pro115_Glu117del)
|
rs760427424
|
|
NM_000521.4(HEXB):c.61_72del (p.Thr21_Ala24del)
|
rs1554034424
|
|
NM_000521.4(HEXB):c.62_76del (p.Thr21_Ala25del)
|
rs887796660
|
|
NM_000521.4(HEXB):c.70_90del (p.Ala24_Leu30del)
|
rs1554034426
|
|
NM_000521.4(HEXB):c.73_84del (p.Ala25_Ala28del)
|
rs745791892
|
|
NM_000521.4(HEXB):c.88_105del (p.Leu30_Leu35del)
|
rs1554034432
|
|
NM_000784.4(CYP27A1):c.1017G>T (p.Thr339=)
|
rs200553205
|
|
NM_000784.4(CYP27A1):c.1028C>G (p.Thr343Arg)
|
rs372194079
|
|
NM_000784.4(CYP27A1):c.1174G>A (p.Glu392Lys)
|
rs1553616443
|
|
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)
|
rs121908096
|
|
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)
|
rs587778781
|
|
NM_000784.4(CYP27A1):c.1514_1516del (p.Thr505_Gly506delinsArg)
|
rs1400183633
|
|
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)
|
rs144701596
|
|
NM_000784.4(CYP27A1):c.1589del (p.Gln530fs)
|
rs1553616552
|
|
NM_000784.4(CYP27A1):c.1596del (p.Ter532TrpextTer?)
|
rs1553616555
|
|
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del)
|
rs766316288
|
|
NM_000784.4(CYP27A1):c.1A>G (p.Met1Val)
|
rs1446633660
|
|
NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del)
|
rs774193477
|
|
NM_000784.4(CYP27A1):c.49_75del (p.Gly17_Ala25del)
|
rs1553614280
|
|
NM_000784.4(CYP27A1):c.721_723dup (p.Val241dup)
|
rs1553616276
|
|
NM_000784.4(CYP27A1):c.76_99del (p.Arg26_Ala33del)
|
rs1188925314
|
|
NM_001042432.2(CLN3):c.725AAG[2] (p.Glu244del)
|
rs796052340
|
|
NM_001042432.2(CLN3):c.853A>G (p.Ile285Val)
|
rs748844685
|
|
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe)
|
rs154774635
|
|
NM_017882.3(CLN6):c.349ATC[2] (p.Ile119del)
|
rs886051447
|
|
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly)
|
rs772893554
|
|
NM_017882.3(CLN6):c.443T>A (p.Val148Asp)
|
rs1555438678
|
|
NM_017882.3(CLN6):c.506T>C (p.Leu169Pro)
|
rs1344658850
|
|
NM_017882.3(CLN6):c.702C>A (p.Phe234Leu)
|
rs1555438267
|
|
NM_017882.3(CLN6):c.775G>T (p.Gly259Cys)
|
rs150363441
|
|
NM_017882.3(CLN6):c.909C>A (p.Tyr303Ter)
|
rs1448520404
|
|
NM_018941.4(CLN8):c.-123-1G>C
|
rs1554448791
|
|
NM_018941.4(CLN8):c.-131_-124+13del
|
rs1554446821
|
|
NM_018941.4(CLN8):c.681T>A (p.Tyr227Ter)
|
rs1554451561
|
|
NM_032380.5(GFM2):c.2230C>T (p.Arg744Ter)
|
rs35080306
|
|
NM_032380.5(GFM2):c.2239dup (p.Thr747fs)
|
rs1554037537
|
|