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.1046A>G (p.Asp349Gly)
|
rs371397270
|
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.793G>C (p.Gly265Arg)
|
rs369090960
|
0.00003
|
NM_000203.5(IDUA):c.1829-1G>A
|
rs745915863
|
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.1087C>T (p.Arg363Cys)
|
rs750496798
|
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.1190-2A>T
|
rs994902207
|
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.1524+1G>A
|
rs1553917483
|
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.1883G>C (p.Arg628Pro)
|
rs200448421
|
0.00001
|
NM_000203.5(IDUA):c.535A>G (p.Thr179Ala)
|
rs766030255
|
0.00001
|
NM_000203.5(IDUA):c.539G>C (p.Trp180Ser)
|
rs1044231895
|
0.00001
|
NM_000203.5(IDUA):c.589+1G>A
|
rs1293215555
|
0.00001
|
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp)
|
rs1430681871
|
0.00001
|
NM_000203.5(IDUA):c.719A>G (p.His240Arg)
|
rs1297784711
|
0.00001
|
NM_000203.5(IDUA):c.1014_1015insATGGCCGCGTAGG (p.Ser339delinsMetAlaAlaTer)
|
|
|
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter)
|
rs764196171
|
|
NM_000203.5(IDUA):c.1039A>C (p.Ser347Arg)
|
rs2153022349
|
|
NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr)
|
rs780106243
|
|
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.1087C>A (p.Arg363Ser)
|
|
|
NM_000203.5(IDUA):c.1091C>A (p.Thr364Lys)
|
|
|
NM_000203.5(IDUA):c.1091C>G (p.Thr364Arg)
|
|
|
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)
|
rs121965032
|
|
NM_000203.5(IDUA):c.1096_1099del (p.Thr366fs)
|
rs2153022399
|
|
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser)
|
rs1553917304
|
|
NM_000203.5(IDUA):c.1118_1130del (p.Asn373fs)
|
|
|
NM_000203.5(IDUA):c.1145T>A (p.Leu382Ter)
|
|
|
NM_000203.5(IDUA):c.1147C>T (p.Arg383Cys)
|
|
|
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met)
|
rs794727896
|
|
NM_000203.5(IDUA):c.1192GAG[1] (p.Glu399del)
|
|
|
NM_000203.5(IDUA):c.1219C>T (p.Gln407Ter)
|
rs1715178056
|
|
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.1282C>T (p.Gln428Ter)
|
|
|
NM_000203.5(IDUA):c.1330GAC[1] (p.Asp445del)
|
rs1715188461
|
|
NM_000203.5(IDUA):c.1395del (p.Gly466fs)
|
rs1386109118
|
|
NM_000203.5(IDUA):c.1402+1G>A
|
rs398123254
|
|
NM_000203.5(IDUA):c.1461G>A (p.Trp487Ter)
|
rs1715210435
|
|
NM_000203.5(IDUA):c.1466G>C (p.Arg489Pro)
|
rs1416328981
|
|
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)
|
rs121965027
|
|
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro)
|
rs121965026
|
|
NM_000203.5(IDUA):c.1513C>G (p.Arg505Gly)
|
rs1715218377
|
|
NM_000203.5(IDUA):c.1524+1G>T
|
rs1553917483
|
|
NM_000203.5(IDUA):c.1525-11_1536del
|
rs1715233169
|
|
NM_000203.5(IDUA):c.1525-1G>A
|
|
|
NM_000203.5(IDUA):c.1525-2A>C
|
rs2153022881
|
|
NM_000203.5(IDUA):c.1551del (p.Leu518fs)
|
|
|
NM_000203.5(IDUA):c.1591del (p.Arg531fs)
|
rs1553917558
|
|
NM_000203.5(IDUA):c.1597C>A (p.Pro533Thr)
|
rs374779600
|
|
NM_000203.5(IDUA):c.1597C>T (p.Pro533Ser)
|
|
|
NM_000203.5(IDUA):c.1598C>A (p.Pro533Gln)
|
|
|
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu)
|
rs121965021
|
|
NM_000203.5(IDUA):c.1602del (p.Leu535fs)
|
rs1553917566
|
|
NM_000203.5(IDUA):c.1644del (p.Gln550fs)
|
|
|
NM_000203.5(IDUA):c.1650+1G>A
|
rs1434521185
|
|
NM_000203.5(IDUA):c.1650+2C>G
|
rs1553917580
|
|
NM_000203.5(IDUA):c.1650+5G>A
|
rs398123256
|
|
NM_000203.5(IDUA):c.1651-2A>G
|
rs2153022990
|
|
NM_000203.5(IDUA):c.1695_1705del (p.Leu566fs)
|
rs1220371654
|
|
NM_000203.5(IDUA):c.1709A>G (p.Asp570Gly)
|
|
|
NM_000203.5(IDUA):c.1709A>T (p.Asp570Val)
|
|
|
NM_000203.5(IDUA):c.1723_1727+4del
|
|
|
NM_000203.5(IDUA):c.1727+1G>A
|
rs1577544451
|
|
NM_000203.5(IDUA):c.1728-2A>G
|
rs1553917699
|
|
NM_000203.5(IDUA):c.1827_1828+4delinsTGTGT
|
|
|
NM_000203.5(IDUA):c.1829-1G>C
|
|
|
NM_000203.5(IDUA):c.1829-2A>G
|
rs1553917733
|
|
NM_000203.5(IDUA):c.1832_1833del (p.Thr611fs)
|
rs1553917735
|
|
NM_000203.5(IDUA):c.1845_1846del (p.Gly616fs)
|
rs1553917737
|
|
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe)
|
rs2153023278
|
|
NM_000203.5(IDUA):c.1867del (p.Leu623fs)
|
rs1553917747
|
|
NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro)
|
rs2153023287
|
|
NM_000203.5(IDUA):c.1868_1892del (p.Leu623fs)
|
rs1553917746
|
|
NM_000203.5(IDUA):c.1874A>C (p.Tyr625Ser)
|
|
|
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys)
|
rs587779401
|
|
NM_000203.5(IDUA):c.1889G>A (p.Gly630Asp)
|
rs2153023301
|
|
NM_000203.5(IDUA):c.1893del (p.Phe632fs)
|
rs1553917754
|
|
NM_000203.5(IDUA):c.1897del (p.Ser633fs)
|
rs1553917756
|
|
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp)
|
rs886043347
|
|
NM_000203.5(IDUA):c.1907_1917del (p.Val636fs)
|
rs1715314710
|
|
NM_000203.5(IDUA):c.300-1G>A
|
rs1553916890
|
|
NM_000203.5(IDUA):c.300-7_306del
|
|
|
NM_000203.5(IDUA):c.306del (p.Thr103fs)
|
rs1461124319
|
|
NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del)
|
|
|
NM_000203.5(IDUA):c.355del (p.Asp119fs)
|
|
|
NM_000203.5(IDUA):c.362T>C (p.Leu121Pro)
|
rs2153021634
|
|
NM_000203.5(IDUA):c.373C>T (p.Gln125Ter)
|
|
|
NM_000203.5(IDUA):c.390del (p.Phe130fs)
|
rs1560545883
|
|
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del)
|
rs774605197
|
|
NM_000203.5(IDUA):c.439C>T (p.Gln147Ter)
|
rs1389029860
|
|
NM_000203.5(IDUA):c.452_453del (p.Glu151fs)
|
|
|
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter)
|
rs1715035049
|
|
NM_000203.5(IDUA):c.488dup (p.Tyr163Ter)
|
rs1553916950
|
|
NM_000203.5(IDUA):c.493+1G>A
|
rs1553916957
|
|
NM_000203.5(IDUA):c.512_513del (p.His171fs)
|
rs1715069355
|
|
NM_000203.5(IDUA):c.520A>T (p.Lys174Ter)
|
|
|
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg)
|
rs875989946
|
|
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter)
|
rs776305028
|
|
NM_000203.5(IDUA):c.536C>A (p.Thr179Lys)
|
|
|
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg)
|
rs776098539
|
|
NM_000203.5(IDUA):c.539G>A (p.Trp180Ter)
|
rs1044231895
|
|
NM_000203.5(IDUA):c.540G>C (p.Trp180Cys)
|
|
|
NM_000203.5(IDUA):c.542dup (p.Asn181fs)
|
rs1553917044
|
|
NM_000203.5(IDUA):c.543_544inv (p.Glu182Lys)
|
|
|
NM_000203.5(IDUA):c.544G>A (p.Glu182Lys)
|
|
|
NM_000203.5(IDUA):c.548C>G (p.Pro183Arg)
|
rs1238128027
|
|
NM_000203.5(IDUA):c.589+1G>T
|
rs1293215555
|
|
NM_000203.5(IDUA):c.589G>A (p.Gly197Ser)
|
rs2153021926
|
|
NM_000203.5(IDUA):c.590-7G>A
|
rs762411583
|
|
NM_000203.5(IDUA):c.606C>G (p.Tyr202Ter)
|
rs1033313360
|
|
NM_000203.5(IDUA):c.607G>T (p.Asp203Tyr)
|
rs2153021976
|
|
NM_000203.5(IDUA):c.608A>G (p.Asp203Gly)
|
rs2153021978
|
|
NM_000203.5(IDUA):c.613T>G (p.Cys205Gly)
|
|
|
NM_000203.5(IDUA):c.615C>A (p.Cys205Ter)
|
rs1715086654
|
|
NM_000203.5(IDUA):c.617C>A (p.Ser206Ter)
|
|
|
NM_000203.5(IDUA):c.623G>C (p.Gly208Ala)
|
|
|
NM_000203.5(IDUA):c.655G>A (p.Gly219Arg)
|
|
|
NM_000203.5(IDUA):c.663del (p.Gly222fs)
|
|
|
NM_000203.5(IDUA):c.675_677delinsT (p.Thr227fs)
|
|
|
NM_000203.5(IDUA):c.713T>C (p.Leu238Pro)
|
rs148789453
|
|
NM_000203.5(IDUA):c.718C>T (p.His240Tyr)
|
|
|
NM_000203.5(IDUA):c.751del (p.Glu251fs)
|
|
|
NM_000203.5(IDUA):c.751dup (p.Glu251fs)
|
|
|
NM_000203.5(IDUA):c.820G>T (p.Glu274Ter)
|
rs1553917192
|
|
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.905C>G (p.Pro302Arg)
|
rs767140903
|
|
NM_000203.5(IDUA):c.955G>A (p.Ala319Thr)
|
|
|
NM_000203.5(IDUA):c.956C>A (p.Ala319Glu)
|
rs781534097
|
|