NM_000203.5(IDUA):c.99T>G (p.His33Gln)
|
rs10794537
|
0.85085
|
NM_022042.4(SLC26A1):c.-27-209T>C
|
rs3822020
|
0.66105
|
NM_000203.5(IDUA):c.60G>A (p.Ala20=)
|
rs10902762
|
0.39819
|
NM_000203.5(IDUA):c.24C>A (p.Ala8=)
|
rs11248061
|
0.39731
|
NM_022042.4(SLC26A1):c.*878G>A
|
rs147498923
|
0.00924
|
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)
|
rs58037052
|
0.00910
|
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile)
|
rs147490060
|
0.00596
|
NM_022042.4(SLC26A1):c.*877C>T
|
rs200911718
|
0.00276
|
NM_000203.5(IDUA):c.246C>G (p.His82Gln)
|
rs148775298
|
0.00274
|
NM_000203.5(IDUA):c.234C>T (p.Gly78=)
|
rs138932617
|
0.00078
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00063
|
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro)
|
rs180984980
|
0.00062
|
NM_000203.5(IDUA):c.-71C>T
|
rs886059748
|
0.00026
|
NM_022042.4(SLC26A1):c.*1032C>T
|
rs886180069
|
0.00016
|
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr)
|
rs746809894
|
0.00011
|
NM_022042.4(SLC26A1):c.1448T>A (p.Leu483Gln)
|
rs387907487
|
0.00011
|
NM_022042.4(SLC26A1):c.356G>A (p.Arg119Gln)
|
rs368990025
|
0.00011
|
NM_022042.4(SLC26A1):c.1677del (p.Leu558_Tyr559insTer)
|
rs778770773
|
0.00010
|
NM_000203.5(IDUA):c.240C>G (p.Val80=)
|
rs373277285
|
0.00009
|
NM_000203.5(IDUA):c.164C>T (p.Pro55Leu)
|
rs199554923
|
0.00008
|
NM_022042.4(SLC26A1):c.955G>A (p.Val319Met)
|
rs558586992
|
0.00005
|
NM_000203.5(IDUA):c.248G>A (p.Arg83His)
|
rs141461803
|
0.00004
|
NM_000203.5(IDUA):c.30G>A (p.Leu10=)
|
rs549738466
|
0.00004
|
NM_000203.5(IDUA):c.64C>G (p.Pro22Ala)
|
rs1001972534
|
0.00004
|
NM_022042.4(SLC26A1):c.*875G>A
|
rs559064100
|
0.00004
|
NM_000203.5(IDUA):c.10C>T (p.Leu4=)
|
rs1042371669
|
0.00003
|
NM_022042.4(SLC26A1):c.1363C>T (p.Arg455Cys)
|
rs387907483
|
0.00003
|
NM_000203.5(IDUA):c.112C>T (p.Arg38Cys)
|
rs950667822
|
0.00002
|
NM_000203.5(IDUA):c.158+9T>A
|
rs1348088042
|
0.00002
|
NM_000203.5(IDUA):c.216C>G (p.Leu72=)
|
rs1174720330
|
0.00002
|
NM_000203.5(IDUA):c.237C>T (p.Ala79=)
|
rs769676234
|
0.00002
|
NM_000203.5(IDUA):c.42G>C (p.Leu14=)
|
rs1021970063
|
0.00002
|
NM_000203.5(IDUA):c.138C>T (p.Phe46=)
|
rs1238977070
|
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.158+8C>T
|
rs1210900840
|
0.00001
|
NM_000203.5(IDUA):c.159C>T (p.Cys53=)
|
rs758190824
|
0.00001
|
NM_000203.5(IDUA):c.162C>A (p.Pro54=)
|
rs1378930636
|
0.00001
|
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs)
|
rs794727240
|
0.00001
|
NM_000203.5(IDUA):c.192C>T (p.Tyr64=)
|
rs121965022
|
0.00001
|
NM_000203.5(IDUA):c.193G>A (p.Val65Ile)
|
rs762406262
|
0.00001
|
NM_000203.5(IDUA):c.198C>G (p.Leu66=)
|
rs773925781
|
0.00001
|
NM_000203.5(IDUA):c.222C>T (p.Leu74=)
|
rs750898638
|
0.00001
|
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr)
|
rs758452450
|
0.00001
|
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys)
|
rs780165694
|
0.00001
|
NM_000203.5(IDUA):c.233G>A (p.Gly78Asp)
|
rs751792135
|
0.00001
|
NM_000203.5(IDUA):c.245A>C (p.His82Pro)
|
rs794727239
|
0.00001
|
NM_000203.5(IDUA):c.249C>T (p.Arg83=)
|
rs765563471
|
0.00001
|
NM_000203.5(IDUA):c.255C>T (p.Ile85=)
|
rs983913564
|
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.299+1G>T
|
rs398123259
|
0.00001
|
NM_000203.5(IDUA):c.299G>A (p.Arg100Lys)
|
rs777698606
|
0.00001
|
NM_000203.5(IDUA):c.31C>G (p.Leu11Val)
|
rs1423609884
|
0.00001
|
NM_000203.5(IDUA):c.39C>T (p.Leu13=)
|
rs1335015335
|
0.00001
|
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)
|
rs794726878
|
0.00001
|
NM_000203.5(IDUA):c.65C>T (p.Pro22Leu)
|
rs745879759
|
0.00001
|
NM_000203.5(IDUA):c.73C>T (p.Pro25Ser)
|
rs775731864
|
0.00001
|
NM_000203.5(IDUA):c.87del (p.His30fs)
|
rs1193085446
|
0.00001
|
NM_000203.5(IDUA):c.90C>G (p.His30Gln)
|
rs553425887
|
0.00001
|
NM_000203.5(IDUA):c.91C>T (p.Leu31=)
|
rs1257215898
|
0.00001
|
NM_022042.4(SLC26A1):c.*1043C>T
|
rs375799555
|
0.00001
|
NM_022042.4(SLC26A1):c.*874C>T
|
rs775172497
|
0.00001
|
NM_022042.4(SLC26A1):c.*876C>T
|
rs546988577
|
0.00001
|
NM_022042.4(SLC26A1):c.1886C>T (p.Thr629Met)
|
rs387907484
|
0.00001
|
NM_022042.4(SLC26A1):c.189C>A (p.Tyr63Ter)
|
rs941971930
|
0.00001
|
NM_022042.4(SLC26A1):c.1903C>T (p.Arg635Ter)
|
rs1162410484
|
0.00001
|
NM_022042.4(SLC26A1):c.310_311del (p.Thr104fs)
|
rs758100654
|
0.00001
|
NM_022042.4(SLC26A1):c.331_345dup (p.Ile111_Met115dup)
|
rs778682733
|
0.00001
|
NM_022042.4(SLC26A1):c.395T>C (p.Met132Thr)
|
rs760075470
|
0.00001
|
NM_022042.4(SLC26A1):c.433G>A (p.Gly145Ser)
|
rs387907486
|
0.00001
|
NC_000004.11:g.(?_980775)_(981040_?)del
|
|
|
NC_000004.11:g.(?_980775)_(981747_?)del
|
|
|
NC_000004.11:g.(?_980871)_(981050_?)dup
|
|
|
NC_000004.11:g.(?_980871)_(985491_?)dup
|
|
|
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys)
|
rs370442463
|
|
NM_000203.5(IDUA):c.-14_10del (p.Met1_Leu4del)
|
|
|
NM_000203.5(IDUA):c.-23_18del (p.Met1fs)
|
|
|
NM_000203.5(IDUA):c.-2C>T
|
rs1472246458
|
|
NM_000203.5(IDUA):c.103G>A (p.Asp35Asn)
|
rs886059750
|
|
NM_000203.5(IDUA):c.108G>C (p.Ala36=)
|
|
|
NM_000203.5(IDUA):c.123G>A (p.Trp41Ter)
|
|
|
NM_000203.5(IDUA):c.127C>T (p.Leu43=)
|
rs2153015240
|
|
NM_000203.5(IDUA):c.130C>A (p.Arg44=)
|
rs558851990
|
|
NM_000203.5(IDUA):c.132G>A (p.Arg44=)
|
rs2153015245
|
|
NM_000203.5(IDUA):c.132del (p.Arg45fs)
|
rs2153015244
|
|
NM_000203.5(IDUA):c.134G>C (p.Arg45Pro)
|
rs1448806369
|
|
NM_000203.5(IDUA):c.135C>T (p.Arg45=)
|
|
|
NM_000203.5(IDUA):c.141G>A (p.Trp47Ter)
|
rs1713799895
|
|
NM_000203.5(IDUA):c.141GAG[1] (p.Arg48del)
|
rs1713799705
|
|
NM_000203.5(IDUA):c.142A>G (p.Arg48Gly)
|
rs2153015259
|
|
NM_000203.5(IDUA):c.143G>A (p.Arg48Lys)
|
|
|
NM_000203.5(IDUA):c.147C>T (p.Ser49=)
|
rs2153015263
|
|
NM_000203.5(IDUA):c.150A>G (p.Thr50=)
|
rs2153015268
|
|
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu)
|
rs1421520718
|
|
NM_000203.5(IDUA):c.158+11C>T
|
|
|
NM_000203.5(IDUA):c.158+12G>A
|
|
|
NM_000203.5(IDUA):c.158+13C>T
|
|
|
NM_000203.5(IDUA):c.158+16C>G
|
|
|
NM_000203.5(IDUA):c.158+16C>T
|
|
|
NM_000203.5(IDUA):c.158+18T>C
|
|
|
NM_000203.5(IDUA):c.158+7G>T
|
rs1488477352
|
|
NM_000203.5(IDUA):c.158+9T>C
|
|
|
NM_000203.5(IDUA):c.158G>C (p.Cys53Ser)
|
|
|
NM_000203.5(IDUA):c.159-17C>T
|
|
|
NM_000203.5(IDUA):c.159-18C>T
|
|
|
NM_000203.5(IDUA):c.159-19_160del
|
rs398123255
|
|
NM_000203.5(IDUA):c.159-1G>A
|
rs1553914935
|
|
NM_000203.5(IDUA):c.159-20C>A
|
|
|
NM_000203.5(IDUA):c.159-20C>T
|
|
|
NM_000203.5(IDUA):c.159-2A>C
|
rs2153015588
|
|
NM_000203.5(IDUA):c.159-2A>G
|
rs2153015588
|
|
NM_000203.5(IDUA):c.159-9T>C
|
|
|
NM_000203.5(IDUA):c.159C>A (p.Cys53Ter)
|
rs758190824
|
|
NM_000203.5(IDUA):c.15C>A (p.Arg5=)
|
|
|
NM_000203.5(IDUA):c.15C>G (p.Arg5=)
|
|
|
NM_000203.5(IDUA):c.15C>T (p.Arg5=)
|
rs750154430
|
|
NM_000203.5(IDUA):c.161C>T (p.Pro54Leu)
|
rs2153015595
|
|
NM_000203.5(IDUA):c.162C>T (p.Pro54=)
|
rs1378930636
|
|
NM_000203.5(IDUA):c.164dup (p.Leu56fs)
|
rs727503966
|
|
NM_000203.5(IDUA):c.165G>A (p.Pro55=)
|
rs1316670340
|
|
NM_000203.5(IDUA):c.167T>C (p.Leu56Pro)
|
rs2153015609
|
|
NM_000203.5(IDUA):c.170_209dup (p.Gln70delinsHisThrGlnProGlyTer)
|
rs1577508778
|
|
NM_000203.5(IDUA):c.175del (p.Ser59fs)
|
|
|
NM_000203.5(IDUA):c.178C>T (p.Gln60Ter)
|
rs1577508801
|
|
NM_000203.5(IDUA):c.179A>C (p.Gln60Pro)
|
|
|
NM_000203.5(IDUA):c.179A>G (p.Gln60Arg)
|
|
|
NM_000203.5(IDUA):c.183T>A (p.Ala61=)
|
|
|
NM_000203.5(IDUA):c.187C>T (p.Gln63Ter)
|
rs2153015621
|
|
NM_000203.5(IDUA):c.18C>T (p.Pro6=)
|
rs1412821087
|
|
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter)
|
rs121965022
|
|
NM_000203.5(IDUA):c.199A>G (p.Ser67Gly)
|
rs370442463
|
|
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.21C>A (p.Arg7=)
|
rs1240723907
|
|
NM_000203.5(IDUA):c.224C>T (p.Ala75Val)
|
rs1315260083
|
|
NM_000203.5(IDUA):c.225C>T (p.Ala75=)
|
|
|
NM_000203.5(IDUA):c.228T>C (p.Tyr76=)
|
rs2153015654
|
|
NM_000203.5(IDUA):c.22G>T (p.Ala8Ser)
|
rs1441549249
|
|
NM_000203.5(IDUA):c.230T>C (p.Val77Ala)
|
rs1560532674
|
|
NM_000203.5(IDUA):c.236C>T (p.Ala79Val)
|
rs747981483
|
|
NM_000203.5(IDUA):c.241C>T (p.Pro81Ser)
|
|
|
NM_000203.5(IDUA):c.242dup (p.His82fs)
|
rs1713866822
|
|
NM_000203.5(IDUA):c.246C>T (p.His82=)
|
rs148775298
|
|
NM_000203.5(IDUA):c.247C>T (p.Arg83Cys)
|
rs771733089
|
|
NM_000203.5(IDUA):c.249C>A (p.Arg83=)
|
rs765563471
|
|
NM_000203.5(IDUA):c.249C>G (p.Arg83=)
|
|
|
NM_000203.5(IDUA):c.24del (p.Ala9fs)
|
|
|
NM_000203.5(IDUA):c.250G>A (p.Gly84Ser)
|
rs564306004
|
|
NM_000203.5(IDUA):c.251G>C (p.Gly84Ala)
|
|
|
NM_000203.5(IDUA):c.256A>T (p.Lys86Ter)
|
|
|
NM_000203.5(IDUA):c.258G>A (p.Lys86=)
|
|
|
NM_000203.5(IDUA):c.25_26delinsAT (p.Ala9Met)
|
|
|
NM_000203.5(IDUA):c.265C>G (p.Arg89Gly)
|
|
|
NM_000203.5(IDUA):c.267G>A (p.Arg89=)
|
rs2153015687
|
|
NM_000203.5(IDUA):c.269C>T (p.Thr90Ile)
|
|
|
NM_000203.5(IDUA):c.26C>G (p.Ala9Gly)
|
rs1369414449
|
|
NM_000203.5(IDUA):c.270C>T (p.Thr90=)
|
rs1307291779
|
|
NM_000203.5(IDUA):c.27G>A (p.Ala9=)
|
|
|
NM_000203.5(IDUA):c.280C>T (p.Leu94=)
|
|
|
NM_000203.5(IDUA):c.287T>G (p.Leu96Arg)
|
rs1713872403
|
|
NM_000203.5(IDUA):c.291C>T (p.Val97=)
|
|
|
NM_000203.5(IDUA):c.297C>G (p.Thr99=)
|
rs1713873324
|
|
NM_000203.5(IDUA):c.297C>T (p.Thr99=)
|
rs1713873324
|
|
NM_000203.5(IDUA):c.298A>G (p.Arg100Gly)
|
|
|
NM_000203.5(IDUA):c.299+14A>G
|
|
|
NM_000203.5(IDUA):c.299+15G>A
|
|
|
NM_000203.5(IDUA):c.299+1G>C
|
rs398123259
|
|
NM_000203.5(IDUA):c.299_299+1delinsAT
|
rs2153015709
|
|
NM_000203.5(IDUA):c.2T>C (p.Met1Thr)
|
rs753767675
|
|
NM_000203.5(IDUA):c.33G>T (p.Leu11=)
|
|
|
NM_000203.5(IDUA):c.34_45dup (p.Ala15_Ser16insAlaLeuLeuAla)
|
rs1553914754
|
|
NM_000203.5(IDUA):c.34_46del (p.Ala12fs)
|
|
|
NM_000203.5(IDUA):c.36G>C (p.Ala12=)
|
rs1403980379
|
|
NM_000203.5(IDUA):c.36G>T (p.Ala12=)
|
|
|
NM_000203.5(IDUA):c.36_44dup (p.Ala15_Ser16insLeuLeuAla)
|
|
|
NM_000203.5(IDUA):c.3G>A (p.Met1Ile)
|
rs1553914740
|
|
NM_000203.5(IDUA):c.42_43del (p.Ala15fs)
|
|
|
NM_000203.5(IDUA):c.44C>T (p.Ala15Val)
|
rs886059749
|
|
NM_000203.5(IDUA):c.45C>G (p.Ala15=)
|
|
|
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)
|
rs398123260
|
|
NM_000203.5(IDUA):c.46_57dup (p.Ala19_Ala20insSerLeuLeuAla)
|
|
|
NM_000203.5(IDUA):c.47C>A (p.Ser16Ter)
|
rs567921262
|
|
NM_000203.5(IDUA):c.48G>C (p.Ser16=)
|
rs2153015172
|
|
NM_000203.5(IDUA):c.52C>T (p.Leu18=)
|
rs2153015176
|
|
NM_000203.5(IDUA):c.54G>A (p.Leu18=)
|
|
|
NM_000203.5(IDUA):c.55G>C (p.Ala19Pro)
|
rs1713786448
|
|
NM_000203.5(IDUA):c.5G>C (p.Arg2Pro)
|
|
|
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs)
|
rs1553914762
|
|
NM_000203.5(IDUA):c.60_61delinsAT (p.Pro21Ser)
|
|
|
NM_000203.5(IDUA):c.61C>A (p.Pro21Thr)
|
|
|
NM_000203.5(IDUA):c.63C>A (p.Pro21=)
|
rs2153015191
|
|
NM_000203.5(IDUA):c.64C>T (p.Pro22Ser)
|
rs1001972534
|
|
NM_000203.5(IDUA):c.65del (p.Pro22fs)
|
rs1560531755
|
|
NM_000203.5(IDUA):c.69_77del (p.Ala24_Ala26del)
|
rs1553914780
|
|
NM_000203.5(IDUA):c.6T>C (p.Arg2=)
|
|
|
NM_000203.5(IDUA):c.72C>G (p.Ala24=)
|
|
|
NM_000203.5(IDUA):c.74C>T (p.Pro25Leu)
|
|
|
NM_000203.5(IDUA):c.78C>G (p.Ala26=)
|
|
|
NM_000203.5(IDUA):c.78C>T (p.Ala26=)
|
|
|
NM_000203.5(IDUA):c.86C>G (p.Pro29Arg)
|
|
|
NM_000203.5(IDUA):c.8C>A (p.Pro3His)
|
|
|
NM_000203.5(IDUA):c.93G>A (p.Leu31=)
|
rs2153015210
|
|
NM_000203.5(IDUA):c.94G>T (p.Val32Leu)
|
rs566741452
|
|
NM_000203.5(IDUA):c.96G>T (p.Val32=)
|
rs991986320
|
|
NM_000203.5(IDUA):c.98_99insGGTGGACGGTGCA (p.His33fs)
|
|
|
NM_000203.5(IDUA):c.99T>A (p.His33Gln)
|
|
|
NM_000203.5(IDUA):c.9C>T (p.Pro3=)
|
|
|
NM_022042.4(SLC26A1):c.*1030G>A
|
rs538533905
|
|
NM_022042.4(SLC26A1):c.*874C>A
|
rs775172497
|
|
NM_022042.4(SLC26A1):c.*874C>G
|
rs775172497
|
|
NM_022042.4(SLC26A1):c.1357del (p.Ala453fs)
|
rs768949918
|
|
NM_022042.4(SLC26A1):c.139del (p.Arg47fs)
|
rs1553915793
|
|
NM_022042.4(SLC26A1):c.1484del (p.Ile495fs)
|
rs1553915253
|
|
NM_022042.4(SLC26A1):c.154del (p.Asp52fs)
|
rs1553915784
|
|
NM_022042.4(SLC26A1):c.1577_1578del (p.Thr526fs)
|
rs1553915228
|
|
NM_022042.4(SLC26A1):c.1631_1632del (p.Gly544fs)
|
rs1265696919
|
|
NM_022042.4(SLC26A1):c.1632dup (p.Pro545fs)
|
rs1265696919
|
|
NM_022042.4(SLC26A1):c.1711G>A (p.Ala571Thr)
|
rs387907481
|
|
NM_022042.4(SLC26A1):c.1732_1758del (p.Ser578_Gly586del)
|
rs1553915189
|
|
NM_022042.4(SLC26A1):c.1735del (p.Glu579fs)
|
rs1372086275
|
|
NM_022042.4(SLC26A1):c.1754del (p.Gly585fs)
|
rs1553915192
|
|
NM_022042.4(SLC26A1):c.1765C>T (p.Gln589Ter)
|
rs200798328
|
|
NM_022042.4(SLC26A1):c.1778del (p.Leu593fs)
|
rs1553915188
|
|
NM_022042.4(SLC26A1):c.1864del (p.Phe621_Leu622insTer)
|
rs1553915173
|
|
NM_022042.4(SLC26A1):c.1901del (p.Arg634fs)
|
rs1553915155
|
|
NM_022042.4(SLC26A1):c.1915del (p.Ala639fs)
|
rs1553915149
|
|
NM_022042.4(SLC26A1):c.300C>A (p.Tyr100Ter)
|
rs752252231
|
|
NM_022042.4(SLC26A1):c.309T>A (p.Tyr103Ter)
|
rs1553915726
|
|
NM_022042.4(SLC26A1):c.335del (p.Tyr112fs)
|
rs1553915711
|
|
NM_022042.4(SLC26A1):c.347del (p.Gly116fs)
|
rs756881822
|
|