NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)
|
rs121965019
|
0.00086
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00063
|
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro)
|
rs781136336
|
0.00035
|
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)
|
rs199801029
|
0.00008
|
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro)
|
rs752337969
|
0.00006
|
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly)
|
rs371397270
|
0.00004
|
NM_000203.5(IDUA):c.1403-1G>T
|
rs4690223
|
0.00004
|
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter)
|
rs121965031
|
0.00004
|
NM_000203.5(IDUA):c.536C>T (p.Thr179Met)
|
rs776098539
|
0.00004
|
NM_000203.5(IDUA):c.793-1G>A
|
rs762779421
|
0.00004
|
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu)
|
rs772416503
|
0.00003
|
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)
|
rs121965021
|
0.00003
|
NM_000203.5(IDUA):c.1614del (p.His539fs)
|
rs727503967
|
0.00003
|
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg)
|
rs369090960
|
0.00003
|
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter)
|
rs776787370
|
0.00002
|
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter)
|
rs756572099
|
0.00002
|
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)
|
rs148789453
|
0.00002
|
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn)
|
rs368454909
|
0.00001
|
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg)
|
rs762903007
|
0.00001
|
NM_000203.5(IDUA):c.1148G>A (p.Arg383His)
|
rs754949360
|
0.00001
|
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)
|
rs794727896
|
0.00001
|
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg)
|
rs794727896
|
0.00001
|
NM_000203.5(IDUA):c.1198C>T (p.Gln400Ter)
|
rs1354690186
|
0.00001
|
NM_000203.5(IDUA):c.1402+1G>T
|
rs398123254
|
0.00001
|
NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs)
|
rs761793564
|
0.00001
|
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)
|
rs772416503
|
0.00001
|
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)
|
rs794726877
|
0.00001
|
NM_000203.5(IDUA):c.158+1G>A
|
rs1264013707
|
0.00001
|
NM_000203.5(IDUA):c.1728-1G>C
|
rs1249951282
|
0.00001
|
NM_000203.5(IDUA):c.1828+1G>C
|
rs919151683
|
0.00001
|
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu)
|
rs886043347
|
0.00001
|
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs)
|
rs794727240
|
0.00001
|
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr)
|
rs758452450
|
0.00001
|
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)
|
rs754966840
|
0.00001
|
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)
|
rs121965029
|
0.00001
|
NM_000203.5(IDUA):c.386-2A>G
|
rs777295041
|
0.00001
|
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)
|
rs794726878
|
0.00001
|
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp)
|
rs1430681871
|
0.00001
|
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)
|
rs869025584
|
0.00001
|
NM_000203.5(IDUA):c.719A>G (p.His240Arg)
|
rs1297784711
|
0.00001
|
NM_000203.5(IDUA):c.87del (p.His30fs)
|
rs1193085446
|
0.00001
|
NC_000004.11:g.(?_980775)_(981040_?)del
|
|
|
NC_000004.11:g.(?_980775)_(981747_?)del
|
|
|
NC_000004.11:g.(?_994390)_(998355_?)del
|
|
|
NC_000004.11:g.(?_995319)_(996126_?)del
|
|
|
NC_000004.11:g.(?_996510)_(998355_?)del
|
|
|
NC_000004.11:g.(?_997352)_(998539_?)del
|
|
|
NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly)
|
rs387906504
|
|
NM_000203.5(IDUA):c.-14_10del (p.Met1_Leu4del)
|
|
|
NM_000203.5(IDUA):c.-23_18del (p.Met1fs)
|
|
|
NM_000203.5(IDUA):c.1023_1026del (p.Pro342fs)
|
|
|
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter)
|
rs764196171
|
|
NM_000203.5(IDUA):c.1036del (p.Leu345_Leu346insTer)
|
rs2153022341
|
|
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)
|
rs121965033
|
|
NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys)
|
rs746766617
|
|
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr)
|
rs368454909
|
|
NM_000203.5(IDUA):c.1045_1047del (p.Asp349del)
|
rs1230096882
|
|
NM_000203.5(IDUA):c.1047dup (p.Asn350fs)
|
rs2153022358
|
|
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del)
|
rs1214495121
|
|
NM_000203.5(IDUA):c.1077del (p.Phe360fs)
|
rs2153022377
|
|
NM_000203.5(IDUA):c.1088_1089dup (p.Thr364fs)
|
rs2153022390
|
|
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)
|
rs121965032
|
|
NM_000203.5(IDUA):c.1099G>C (p.Ala367Pro)
|
|
|
NM_000203.5(IDUA):c.1108C>T (p.Gln370Ter)
|
rs2153022415
|
|
NM_000203.5(IDUA):c.1137_1138dup (p.Gln380fs)
|
|
|
NM_000203.5(IDUA):c.1163del (p.Thr388fs)
|
rs1577541504
|
|
NM_000203.5(IDUA):c.1167del (p.Met390fs)
|
rs2153022443
|
|
NM_000203.5(IDUA):c.1190-10C>A
|
rs1443642527
|
|
NM_000203.5(IDUA):c.1190-10_*10del
|
|
|
NM_000203.5(IDUA):c.1190-1del
|
|
|
NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter)
|
rs991612107
|
|
NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter)
|
rs1340421020
|
|
NM_000203.5(IDUA):c.1227dup (p.Thr410fs)
|
rs1715179164
|
|
NM_000203.5(IDUA):c.123G>A (p.Trp41Ter)
|
|
|
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)
|
rs931627770
|
|
NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs)
|
rs1445719596
|
|
NM_000203.5(IDUA):c.1306del (p.Ala436fs)
|
|
|
NM_000203.5(IDUA):c.1323C>A (p.Tyr441Ter)
|
|
|
NM_000203.5(IDUA):c.1323C>G (p.Tyr441Ter)
|
|
|
NM_000203.5(IDUA):c.1326_1330dup (p.Asp444fs)
|
|
|
NM_000203.5(IDUA):c.132del (p.Arg45fs)
|
rs2153015244
|
|
NM_000203.5(IDUA):c.1330GAC[1] (p.Asp445del)
|
rs1715188461
|
|
NM_000203.5(IDUA):c.1395del (p.Gly466fs)
|
rs1386109118
|
|
NM_000203.5(IDUA):c.1395dup (p.Gly466fs)
|
rs1386109118
|
|
NM_000203.5(IDUA):c.1402+2T>G
|
rs1553917428
|
|
NM_000203.5(IDUA):c.1403-1G>A
|
|
|
NM_000203.5(IDUA):c.141G>A (p.Trp47Ter)
|
rs1713799895
|
|
NM_000203.5(IDUA):c.1456G>T (p.Glu486Ter)
|
rs1356329915
|
|
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu)
|
rs1715210316
|
|
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)
|
rs121965027
|
|
NM_000203.5(IDUA):c.1496_1497del (p.Glu499fs)
|
rs2153022799
|
|
NM_000203.5(IDUA):c.1498C>T (p.Gln500Ter)
|
rs1290558249
|
|
NM_000203.5(IDUA):c.1529dup (p.Val511fs)
|
|
|
NM_000203.5(IDUA):c.1546dup (p.Arg516fs)
|
rs2153022895
|
|
NM_000203.5(IDUA):c.1561_1570del (p.Ala520_Gly521insTer)
|
rs1715237631
|
|
NM_000203.5(IDUA):c.1587_1588dup (p.Leu530fs)
|
|
|
NM_000203.5(IDUA):c.159-19_160del
|
rs398123255
|
|
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu)
|
rs121965021
|
|
NM_000203.5(IDUA):c.159C>A (p.Cys53Ter)
|
rs758190824
|
|
NM_000203.5(IDUA):c.1602del (p.Leu535fs)
|
rs1553917566
|
|
NM_000203.5(IDUA):c.1623T>A (p.Cys541Ter)
|
rs2153022938
|
|
NM_000203.5(IDUA):c.1646_1647del (p.Gly549fs)
|
|
|
NM_000203.5(IDUA):c.1648C>T (p.Gln550Ter)
|
rs2153022958
|
|
NM_000203.5(IDUA):c.164dup (p.Leu56fs)
|
rs727503966
|
|
NM_000203.5(IDUA):c.1650+5G>A
|
rs398123256
|
|
NM_000203.5(IDUA):c.1681C>T (p.Gln561Ter)
|
rs752800292
|
|
NM_000203.5(IDUA):c.1695_1705del (p.Leu566fs)
|
rs1220371654
|
|
NM_000203.5(IDUA):c.1708G>C (p.Asp570His)
|
rs1553917627
|
|
NM_000203.5(IDUA):c.170_209dup (p.Gln70delinsHisThrGlnProGlyTer)
|
rs1577508778
|
|
NM_000203.5(IDUA):c.1713del (p.Glu571fs)
|
|
|
NM_000203.5(IDUA):c.1727+1G>A
|
rs1577544451
|
|
NM_000203.5(IDUA):c.1728-1G>A
|
rs1249951282
|
|
NM_000203.5(IDUA):c.1728-2A>G
|
rs1553917699
|
|
NM_000203.5(IDUA):c.1737G>A (p.Trp579Ter)
|
|
|
NM_000203.5(IDUA):c.1750C>T (p.Gln584Ter)
|
rs1715290919
|
|
NM_000203.5(IDUA):c.175del (p.Ser59fs)
|
|
|
NM_000203.5(IDUA):c.1766del (p.Gly589fs)
|
rs1715293163
|
|
NM_000203.5(IDUA):c.178C>T (p.Gln60Ter)
|
rs1577508801
|
|
NM_000203.5(IDUA):c.1799C>A (p.Ser600Ter)
|
rs867456178
|
|
NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer)
|
rs398123258
|
|
NM_000203.5(IDUA):c.1815dup (p.Val606fs)
|
rs2153023210
|
|
NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter)
|
rs746936485
|
|
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly)
|
rs121965031
|
|
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe)
|
rs2153023278
|
|
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)
|
rs121965025
|
|
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter)
|
rs1456090810
|
|
NM_000203.5(IDUA):c.187C>T (p.Gln63Ter)
|
rs2153015621
|
|
NM_000203.5(IDUA):c.1882del (p.Arg628fs)
|
|
|
NM_000203.5(IDUA):c.1893del (p.Phe632fs)
|
rs1553917754
|
|
NM_000203.5(IDUA):c.1898C>A (p.Ser633Ter)
|
rs886043347
|
|
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp)
|
rs886043347
|
|
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter)
|
rs121965022
|
|
NM_000203.5(IDUA):c.1960T>C (p.Ter654Arg)
|
rs387906504
|
|
NM_000203.5(IDUA):c.19dup (p.Arg7fs)
|
|
|
NM_000203.5(IDUA):c.1A>C (p.Met1Leu)
|
rs1553914737
|
|
NM_000203.5(IDUA):c.1A>G (p.Met1Val)
|
rs1553914737
|
|
NM_000203.5(IDUA):c.203G>A (p.Trp68Ter)
|
|
|
NM_000203.5(IDUA):c.209del (p.Gln70fs)
|
rs2153015644
|
|
NM_000203.5(IDUA):c.236C>T (p.Ala79Val)
|
rs747981483
|
|
NM_000203.5(IDUA):c.242dup (p.His82fs)
|
rs1713866822
|
|
NM_000203.5(IDUA):c.265C>G (p.Arg89Gly)
|
|
|
NM_000203.5(IDUA):c.299+1G>C
|
rs398123259
|
|
NM_000203.5(IDUA):c.2T>C (p.Met1Thr)
|
rs753767675
|
|
NM_000203.5(IDUA):c.300-3C>G
|
rs1226056948
|
|
NM_000203.5(IDUA):c.306del (p.Thr103fs)
|
rs1461124319
|
|
NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del)
|
|
|
NM_000203.5(IDUA):c.349del (p.Tyr117fs)
|
rs2153021628
|
|
NM_000203.5(IDUA):c.367G>T (p.Glu123Ter)
|
|
|
NM_000203.5(IDUA):c.385+1G>C
|
rs780615798
|
|
NM_000203.5(IDUA):c.386-1G>A
|
rs2153021698
|
|
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del)
|
rs774605197
|
|
NM_000203.5(IDUA):c.403del (p.Ser135fs)
|
rs2153021702
|
|
NM_000203.5(IDUA):c.439C>T (p.Gln147Ter)
|
rs1389029860
|
|
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter)
|
rs1715035049
|
|
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)
|
rs398123260
|
|
NM_000203.5(IDUA):c.47C>A (p.Ser16Ter)
|
rs567921262
|
|
NM_000203.5(IDUA):c.493+1G>T
|
|
|
NM_000203.5(IDUA):c.504_510del (p.Leu169fs)
|
|
|
NM_000203.5(IDUA):c.523_534del (p.Trp175_Glu178del)
|
|
|
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter)
|
rs776305028
|
|
NM_000203.5(IDUA):c.532G>A (p.Glu178Lys)
|
|
|
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg)
|
rs776098539
|
|
NM_000203.5(IDUA):c.540G>A (p.Trp180Ter)
|
rs2153021904
|
|
NM_000203.5(IDUA):c.542dup (p.Asn181fs)
|
rs1553917044
|
|
NM_000203.5(IDUA):c.570del (p.Asn190fs)
|
rs1330366594
|
|
NM_000203.5(IDUA):c.576del (p.Ser192_Met193insTer)
|
|
|
NM_000203.5(IDUA):c.585dup (p.Gln196fs)
|
rs2153021921
|
|
NM_000203.5(IDUA):c.586C>T (p.Gln196Ter)
|
|
|
NM_000203.5(IDUA):c.590-1G>A
|
rs1715084294
|
|
NM_000203.5(IDUA):c.590-2A>G
|
rs1252941339
|
|
NM_000203.5(IDUA):c.590-7G>A
|
rs762411583
|
|
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter)
|
rs1033313360
|
|
NM_000203.5(IDUA):c.606C>G (p.Tyr202Ter)
|
rs1033313360
|
|
NM_000203.5(IDUA):c.607G>A (p.Asp203Asn)
|
rs2153021976
|
|
NM_000203.5(IDUA):c.607_614dup (p.Cys205fs)
|
|
|
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs)
|
rs1553914762
|
|
NM_000203.5(IDUA):c.612_615del (p.Cys205fs)
|
rs875989947
|
|
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs)
|
rs786200915
|
|
NM_000203.5(IDUA):c.614G>A (p.Cys205Tyr)
|
rs1715086540
|
|
NM_000203.5(IDUA):c.615C>A (p.Cys205Ter)
|
rs1715086654
|
|
NM_000203.5(IDUA):c.630del (p.Ala211fs)
|
|
|
NM_000203.5(IDUA):c.642_646del (p.Leu216fs)
|
rs2153022009
|
|
NM_000203.5(IDUA):c.722_723delinsAA (p.Cys241Ter)
|
|
|
NM_000203.5(IDUA):c.774C>A (p.Tyr258Ter)
|
|
|
NM_000203.5(IDUA):c.784del (p.His262fs)
|
rs757928590
|
|
NM_000203.5(IDUA):c.793-2A>G
|
|
|
NM_000203.5(IDUA):c.820G>T (p.Glu274Ter)
|
rs1553917192
|
|
NM_000203.5(IDUA):c.826G>A (p.Glu276Lys)
|
|
|
NM_000203.5(IDUA):c.853del (p.Gln285fs)
|
rs2153022188
|
|
NM_000203.5(IDUA):c.866del (p.Lys289fs)
|
|
|
NM_000203.5(IDUA):c.876del (p.Asp292fs)
|
rs1553917209
|
|
NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup)
|
rs779762183
|
|
NM_000203.5(IDUA):c.882dup (p.Ile295fs)
|
rs2153022202
|
|
NM_000203.5(IDUA):c.895G>T (p.Glu299Ter)
|
rs1715120049
|
|
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr)
|
rs121965030
|
|
NM_000203.5(IDUA):c.901G>C (p.Asp301His)
|
|
|
NM_000203.5(IDUA):c.903C>G (p.Asp301Glu)
|
rs759390416
|
|
NM_000203.5(IDUA):c.905del (p.Pro302fs)
|
rs2153022225
|
|
NM_000203.5(IDUA):c.910del (p.Val304fs)
|
rs2153022228
|
|
NM_000203.5(IDUA):c.911del (p.Val304fs)
|
rs2153022229
|
|
NM_000203.5(IDUA):c.936G>A (p.Trp312Ter)
|
rs1715123409
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NM_000203.5(IDUA):c.954C>G (p.Tyr318Ter)
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NM_000203.5(IDUA):c.956C>T (p.Ala319Val)
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rs781534097
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NM_000203.5(IDUA):c.965del (p.Val322fs)
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rs2153022263
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NM_000203.5(IDUA):c.972+1G>A
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rs794727840
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NM_000203.5(IDUA):c.98_99insGGTGGACGGTGCA (p.His33fs)
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