NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)
|
rs58037052
|
0.00910
|
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.11T>C (p.Leu4Pro)
|
rs180984980
|
0.00062
|
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.30G>A (p.Leu10=)
|
rs549738466
|
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.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.158+8C>T
|
rs1210900840
|
0.00001
|
NM_000203.5(IDUA):c.162C>A (p.Pro54=)
|
rs1378930636
|
0.00001
|
NM_000203.5(IDUA):c.192C>T (p.Tyr64=)
|
rs121965022
|
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.249C>T (p.Arg83=)
|
rs765563471
|
0.00001
|
NM_000203.5(IDUA):c.255C>T (p.Ile85=)
|
rs983913564
|
0.00001
|
NM_000203.5(IDUA):c.39C>T (p.Leu13=)
|
rs1335015335
|
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
|
NM_000203.5(IDUA):c.108G>C (p.Ala36=)
|
|
|
NM_000203.5(IDUA):c.127C>T (p.Leu43=)
|
rs2153015240
|
|
NM_000203.5(IDUA):c.132G>A (p.Arg44=)
|
rs2153015245
|
|
NM_000203.5(IDUA):c.135C>T (p.Arg45=)
|
|
|
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.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.159-17C>T
|
|
|
NM_000203.5(IDUA):c.159-18C>T
|
|
|
NM_000203.5(IDUA):c.159-20C>A
|
|
|
NM_000203.5(IDUA):c.159-20C>T
|
|
|
NM_000203.5(IDUA):c.159-9T>C
|
|
|
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.162C>T (p.Pro54=)
|
rs1378930636
|
|
NM_000203.5(IDUA):c.165G>A (p.Pro55=)
|
rs1316670340
|
|
NM_000203.5(IDUA):c.183T>A (p.Ala61=)
|
|
|
NM_000203.5(IDUA):c.18C>T (p.Pro6=)
|
rs1412821087
|
|
NM_000203.5(IDUA):c.21C>A (p.Arg7=)
|
rs1240723907
|
|
NM_000203.5(IDUA):c.225C>T (p.Ala75=)
|
|
|
NM_000203.5(IDUA):c.228T>C (p.Tyr76=)
|
rs2153015654
|
|
NM_000203.5(IDUA):c.246C>T (p.His82=)
|
rs148775298
|
|
NM_000203.5(IDUA):c.249C>A (p.Arg83=)
|
rs765563471
|
|
NM_000203.5(IDUA):c.249C>G (p.Arg83=)
|
|
|
NM_000203.5(IDUA):c.258G>A (p.Lys86=)
|
|
|
NM_000203.5(IDUA):c.267G>A (p.Arg89=)
|
rs2153015687
|
|
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.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.299+14A>G
|
|
|
NM_000203.5(IDUA):c.299+15G>A
|
|
|
NM_000203.5(IDUA):c.33G>T (p.Leu11=)
|
|
|
NM_000203.5(IDUA):c.36G>C (p.Ala12=)
|
rs1403980379
|
|
NM_000203.5(IDUA):c.36G>T (p.Ala12=)
|
|
|
NM_000203.5(IDUA):c.45C>G (p.Ala15=)
|
|
|
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.63C>A (p.Pro21=)
|
rs2153015191
|
|
NM_000203.5(IDUA):c.6T>C (p.Arg2=)
|
|
|
NM_000203.5(IDUA):c.72C>G (p.Ala24=)
|
|
|
NM_000203.5(IDUA):c.78C>G (p.Ala26=)
|
|
|
NM_000203.5(IDUA):c.78C>T (p.Ala26=)
|
|
|
NM_000203.5(IDUA):c.93G>A (p.Leu31=)
|
rs2153015210
|
|
NM_000203.5(IDUA):c.96G>T (p.Val32=)
|
rs991986320
|
|
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.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
|
|