NM_000152.5(GAA):c.668G>A (p.Arg223His)
|
rs1042395
|
0.65662
|
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)
|
rs58037052
|
0.00910
|
NM_000203.5(IDUA):c.965T>A (p.Val322Glu)
|
rs76722191
|
0.00271
|
NM_000018.4(ACADVL):c.1752-36G>A
|
rs200709964
|
0.00173
|
NM_000018.4(ACADVL):c.752+24C>T
|
rs201030339
|
0.00170
|
NM_000018.4(ACADVL):c.1606-22C>T
|
rs370303265
|
0.00139
|
NM_000018.4(ACADVL):c.343-41C>A
|
rs368107662
|
0.00031
|
NM_000018.4(ACADVL):c.1678+15C>T
|
rs371402802
|
0.00029
|
NM_000018.4(ACADVL):c.1751+18G>A
|
rs528002997
|
0.00024
|
NM_000337.6(SGCD):c.699+18C>G
|
rs180898690
|
0.00019
|
NM_000018.4(ACADVL):c.1678+39C>G
|
rs377062362
|
0.00016
|
NM_000018.4(ACADVL):c.1605+22A>G
|
rs1052646012
|
0.00014
|
NM_000018.4(ACADVL):c.342+25C>T
|
rs771711857
|
0.00013
|
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_000018.4(ACADVL):c.1751+46C>G
|
rs375203448
|
0.00010
|
NM_000018.4(ACADVL):c.62+9G>A
|
rs369512281
|
0.00010
|
NM_022042.4(SLC26A1):c.1677del (p.Leu558_Tyr559insTer)
|
rs778770773
|
0.00010
|
NM_000018.4(ACADVL):c.277+24T>C
|
rs199945418
|
0.00009
|
NM_000152.5(GAA):c.1754+21C>T
|
rs373387713
|
0.00009
|
NM_000018.4(ACADVL):c.63-31C>T
|
rs372982295
|
0.00007
|
NM_000018.4(ACADVL):c.62+18G>A
|
rs780776419
|
0.00006
|
NM_000337.6(SGCD):c.69C>T (p.Tyr23=)
|
rs397517923
|
0.00006
|
NM_000018.4(ACADVL):c.1679-34C>T
|
rs779439503
|
0.00004
|
NM_000018.4(ACADVL):c.278-39C>T
|
rs202244937
|
0.00004
|
NM_000018.4(ACADVL):c.342+15G>A
|
rs777751102
|
0.00004
|
NM_000232.5(SGCB):c.429+24G>T
|
rs367761233
|
0.00004
|
NM_000337.6(SGCD):c.393C>T (p.Ala131=)
|
rs397517922
|
0.00004
|
NM_000018.4(ACADVL):c.1332+27C>T
|
rs200161683
|
0.00003
|
NM_000018.4(ACADVL):c.1434+23G>A
|
rs759991740
|
0.00003
|
NM_000018.4(ACADVL):c.1532+11G>A
|
rs372900326
|
0.00003
|
NM_000018.4(ACADVL):c.1678+24G>A
|
rs751665756
|
0.00003
|
NM_000018.4(ACADVL):c.1751+30C>T
|
rs757837505
|
0.00003
|
NM_000018.4(ACADVL):c.1752-23T>C
|
rs368009800
|
0.00003
|
NM_022042.4(SLC26A1):c.1363C>T (p.Arg455Cys)
|
rs387907483
|
0.00003
|
NM_000018.4(ACADVL):c.1678+22C>T
|
rs761650394
|
0.00002
|
NM_000018.4(ACADVL):c.1752-32_1752-31del
|
rs758750087
|
0.00002
|
NM_000018.4(ACADVL):c.342+14C>T
|
rs567468883
|
0.00002
|
NM_000231.3(SGCG):c.196-6195C>T
|
rs207473592
|
0.00002
|
NM_000018.4(ACADVL):c.1434+38G>C
|
rs763704056
|
0.00001
|
NM_000018.4(ACADVL):c.1752-33C>T
|
rs760851448
|
0.00001
|
NM_000018.4(ACADVL):c.204+15G>A
|
rs1404625751
|
0.00001
|
NM_000018.4(ACADVL):c.342+16G>C
|
rs536497611
|
0.00001
|
NM_000018.4(ACADVL):c.343-23G>A
|
rs781064781
|
0.00001
|
NM_000018.4(ACADVL):c.63-18A>G
|
rs1481782237
|
0.00001
|
NM_000023.4(SGCA):c.956+21C>T
|
rs367690233
|
0.00001
|
NM_000152.5(GAA):c.2040+16C>T
|
rs573522544
|
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_000018.4(ACADVL):c.1270-38A>G
|
rs1555528742
|
|
NM_000018.4(ACADVL):c.1333-25T>C
|
rs770876053
|
|
NM_000018.4(ACADVL):c.1434+14T>A
|
rs202217537
|
|
NM_000018.4(ACADVL):c.1434+24G>A
|
rs1555528806
|
|
NM_000018.4(ACADVL):c.1434+27G>A
|
rs1271483942
|
|
NM_000018.4(ACADVL):c.1532+7T>C
|
rs534469222
|
|
NM_000018.4(ACADVL):c.1606-28G>A
|
rs773931227
|
|
NM_000018.4(ACADVL):c.1606-36G>A
|
rs890862631
|
|
NM_000018.4(ACADVL):c.1606-42C>G
|
rs372357967
|
|
NM_000018.4(ACADVL):c.1606-42C>T
|
rs372357967
|
|
NM_000018.4(ACADVL):c.1678+27C>A
|
rs759729168
|
|
NM_000018.4(ACADVL):c.204+31dup
|
rs1555527700
|
|
NM_000018.4(ACADVL):c.277+27del
|
rs775298132
|
|
NM_000018.4(ACADVL):c.62+10del
|
rs1251002707
|
|
NM_000152.5(GAA):c.1888+49_1888+72del
|
rs1555601511
|
|
NM_000152.5(GAA):c.1888+51_1888+74del
|
rs1555601512
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGTGGCGGGC
|
rs3071247
|
|
NM_000203.5(IDUA):c.1083G>A (p.Ala361=)
|
rs1553917295
|
|
NM_000203.5(IDUA):c.1161C>T (p.Leu387=)
|
rs1553917312
|
|
NM_000337.6(SGCD):c.177C>T (p.Val59=)
|
rs727505265
|
|
NM_000337.6(SGCD):c.383-35_383-34insA
|
rs1554119750
|
|
NM_000337.6(SGCD):c.383-47CTCTCTC[4]
|
rs780744816
|
|
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
|
|