NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)
|
rs28942073
|
0.00046
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)
|
rs119455955
|
0.00025
|
NM_000520.6(HEXA):c.1073+1G>A
|
rs76173977
|
0.00021
|
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00015
|
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)
|
rs546989392
|
0.00010
|
NM_000520.6(HEXA):c.459+5G>A
|
rs762060470
|
0.00009
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)
|
rs139842473
|
0.00008
|
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)
|
rs386833646
|
0.00005
|
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)
|
rs119455954
|
0.00005
|
NM_000520.6(HEXA):c.460-1G>T
|
rs764343937
|
0.00005
|
NM_000520.6(HEXA):c.533G>A (p.Arg178His)
|
rs28941770
|
0.00005
|
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)
|
rs756564767
|
0.00004
|
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_000521.4(HEXB):c.1082+5G>A
|
rs5030731
|
0.00004
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)
|
rs386833980
|
0.00004
|
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)
|
rs764552042
|
0.00003
|
NM_000391.4(TPP1):c.1266G>C (p.Gln422His)
|
rs121908200
|
0.00002
|
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)
|
rs121908202
|
0.00002
|
NM_000391.4(TPP1):c.229G>A (p.Gly77Arg)
|
rs121908195
|
0.00002
|
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.571-1G>T
|
rs185429231
|
0.00002
|
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His)
|
rs386833695
|
0.00002
|
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter)
|
rs386833697
|
0.00002
|
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter)
|
rs386833971
|
0.00002
|
NM_000310.4(PPT1):c.3G>A (p.Met1Ile)
|
rs386833645
|
0.00001
|
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys)
|
rs386833655
|
0.00001
|
NM_000310.4(PPT1):c.628-1G>T
|
rs386833659
|
0.00001
|
NM_000310.4(PPT1):c.665T>C (p.Leu222Pro)
|
rs386833661
|
0.00001
|
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)
|
rs1184563885
|
0.00001
|
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg)
|
rs121908195
|
0.00001
|
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter)
|
rs121907963
|
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.1A>G (p.Met1Val)
|
rs121907965
|
0.00001
|
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)
|
rs786204721
|
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.72G>A (p.Trp24Ter)
|
rs1555475519
|
0.00001
|
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)
|
rs566580738
|
0.00001
|
NM_000520.6(HEXA):c.805+1G>C
|
rs121907980
|
0.00001
|
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter)
|
rs1554034452
|
0.00001
|
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)
|
rs121907983
|
0.00001
|
NM_000521.4(HEXB):c.1538T>C (p.Leu513Pro)
|
rs778501777
|
0.00001
|
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp)
|
rs373979283
|
0.00001
|
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter)
|
rs121907986
|
0.00001
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
NM_000784.4(CYP27A1):c.446+1G>A
|
rs587778797
|
0.00001
|
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)
|
rs201346271
|
0.00001
|
NM_001042432.2(CLN3):c.1198-1G>T
|
rs386833702
|
0.00001
|
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)
|
rs267607235
|
0.00001
|
NM_017882.3(CLN6):c.407G>A (p.Arg136His)
|
rs769701646
|
0.00001
|
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys)
|
rs1381427322
|
0.00001
|
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)
|
rs386834130
|
0.00001
|
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)
|
rs104894060
|
0.00001
|
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg)
|
rs746645358
|
0.00001
|
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys)
|
rs387907246
|
0.00001
|
NC_000005.9:g.(?_73980968)_(73992932_74001043)del
|
|
|
NC_000015.9:g.(72648959_72668060)_(72668815_?)del
|
|
|
NC_000015.9:g.68504037_68504039delGAT
|
rs121908080
|
|
NM_000310.4(PPT1):c.169dup (p.Met57fs)
|
rs386833634
|
|
NM_000310.4(PPT1):c.398del (p.Met133fs)
|
rs386833644
|
|
NM_000310.4(PPT1):c.541G>T (p.Val181Leu)
|
rs148412181
|
|
NM_000310.4(PPT1):c.674T>C (p.Phe225Ser)
|
rs386833662
|
|
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp)
|
rs750428882
|
|
NM_000391.4(TPP1):c.1678_1679del (p.Leu560fs)
|
rs759664259
|
|
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter)
|
rs759080581
|
|
NM_000391.4(TPP1):c.509-1G>A
|
rs56144125
|
|
NM_000391.4(TPP1):c.640C>T (p.Gln214Ter)
|
rs752164603
|
|
NM_000391.4(TPP1):c.790C>T (p.Gln264Ter)
|
rs1405952769
|
|
NM_000391.4(TPP1):c.89+5G>C
|
rs746085696
|
|
NM_000391.4(TPP1):c.972_979del (p.Ser324fs)
|
rs778232650
|
|
NM_000520.4(HEXA):c.-2564_253+5128delinsG
|
|
|
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs)
|
rs1057516755
|
|
NM_000520.6(HEXA):c.1123del (p.Glu375fs)
|
rs766138785
|
|
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter)
|
rs988192535
|
|
NM_000520.6(HEXA):c.1330+1G>A
|
rs767041069
|
|
NM_000520.6(HEXA):c.1435del (p.Ala479fs)
|
rs2088601317
|
|
NM_000520.6(HEXA):c.155C>A (p.Ser52Ter)
|
rs987036804
|
|
NM_000520.6(HEXA):c.346+1G>A
|
rs797044432
|
|
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg)
|
rs121907975
|
|
NM_000520.6(HEXA):c.413-2A>G
|
rs2088733862
|
|
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer)
|
rs1057519458
|
|
NM_000520.6(HEXA):c.496del (p.Arg166fs)
|
rs2088724288
|
|
NM_000520.6(HEXA):c.672+1G>A
|
rs387906311
|
|
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter)
|
rs121907964
|
|
NM_000520.6(HEXA):c.805+1G>A
|
rs121907980
|
|
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del)
|
rs121907960
|
|
NM_000520.6(HEXA):c.929_930del (p.Ser310fs)
|
rs751248523
|
|
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)
|
rs772180415
|
|
NM_000521.4(HEXB):c.115del (p.Val39fs)
|
rs398123443
|
|
NM_000521.4(HEXB):c.1509-26G>A
|
rs201580118
|
|
NM_000521.4(HEXB):c.171del (p.Trp57fs)
|
rs771973471
|
|
NM_000521.4(HEXB):c.445+1G>A
|
rs761197472
|
|
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter)
|
rs573447174
|
|
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs)
|
rs1575206357
|
|
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)
|
rs121908096
|
|
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)
|
rs72551322
|
|
NM_001042432.2(CLN3):c.1056+3A>C
|
rs386833698
|
|
NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter)
|
rs386833700
|
|
NM_001042432.2(CLN3):c.424del (p.Val142fs)
|
rs386833720
|
|
NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter)
|
rs386833737
|
|
NM_001042432.2(CLN3):c.790+532_1056+1445del
|
|
|
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)
|
rs121434286
|
|
NM_001042432.2(CLN3):c.944dup (p.His315fs)
|
rs386833740
|
|
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)
|
rs559155109
|
|
NM_001371596.2(MFSD8):c.215del (p.Asp72fs)
|
|
|
NM_003793.4(CTSF):c.1119dup (p.Lys374fs)
|
|
|
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer)
|
rs386833969
|
|
NM_006493.4(CLN5):c.547C>T (p.Gln183Ter)
|
rs869312751
|
|
NM_006493.4(CLN5):c.808_823del (p.Gly270fs)
|
rs386833983
|
|
NM_006493.4(CLN5):c.936del (p.Phe312fs)
|
rs386833966
|
|
NM_006493.4(CLN5):c.956_959del (p.Lys319fs)
|
rs386833967
|
|
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys)
|
rs1012449574
|
|
NM_017882.3(CLN6):c.712_713delinsAC (p.Phe238Thr)
|
rs2141136108
|
|