NM_000203.5(IDUA):c.99T>G (p.His33Gln)
|
rs10794537
|
0.85085
|
NM_022042.4(SLC26A1):c.-27-209T>C
|
rs3822020
|
0.66105
|
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.246C>G (p.His82Gln)
|
rs148775298
|
0.00274
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00063
|
NM_000203.5(IDUA):c.-71C>T
|
rs886059748
|
0.00026
|
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_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.152G>A (p.Gly51Asp)
|
rs794726877
|
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.227A>G (p.Tyr76Cys)
|
rs780165694
|
0.00001
|
NM_000203.5(IDUA):c.245A>C (p.His82Pro)
|
rs794727239
|
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.53T>C (p.Leu18Pro)
|
rs794726878
|
0.00001
|
NM_000203.5(IDUA):c.90C>G (p.His30Gln)
|
rs553425887
|
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_000203.4(IDUA):c.199A>T (p.Ser67Cys)
|
rs370442463
|
|
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu)
|
rs1421520718
|
|
NM_000203.5(IDUA):c.159-1G>A
|
rs1553914935
|
|
NM_000203.5(IDUA):c.187C>T (p.Gln63Ter)
|
rs2153015621
|
|
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter)
|
rs121965022
|
|
NM_000203.5(IDUA):c.1A>C (p.Met1Leu)
|
rs1553914737
|
|
NM_000203.5(IDUA):c.34_45dup (p.Ala15_Ser16insAlaLeuLeuAla)
|
rs1553914754
|
|
NM_000203.5(IDUA):c.3G>A (p.Met1Ile)
|
rs1553914740
|
|
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)
|
rs398123260
|
|
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs)
|
rs1553914762
|
|
NM_000203.5(IDUA):c.64C>T (p.Pro22Ser)
|
rs1001972534
|
|
NM_000203.5(IDUA):c.69_77del (p.Ala24_Ala26del)
|
rs1553914780
|
|
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
|
|