NM_003659.4(AGPS):c.*1866_*1867del
|
rs761041008
|
0.11055
|
NM_000288.3(PEX7):c.-77T>C
|
rs1321472
|
0.00160
|
NM_014236.4(GNPAT):c.1212T>C (p.Ala404=)
|
rs143205045
|
0.00110
|
NM_003659.4(AGPS):c.1086C>T (p.His362=)
|
rs138280491
|
0.00072
|
NM_003659.4(AGPS):c.231G>A (p.Ala77=)
|
rs576982787
|
0.00037
|
NM_000288.3(PEX7):c.-91G>A
|
rs772358439
|
0.00013
|
NM_000288.4(PEX7):c.44C>T (p.Pro15Leu)
|
rs925593750
|
0.00011
|
NM_003659.4(AGPS):c.*5072T>G
|
rs552637479
|
0.00010
|
NM_000288.4(PEX7):c.418-3T>C
|
rs770117560
|
0.00006
|
NM_014236.4(GNPAT):c.*123A>G
|
rs537905640
|
0.00006
|
NM_000288.4(PEX7):c.203A>T (p.Asp68Val)
|
rs763388501
|
0.00004
|
NM_000288.4(PEX7):c.467G>A (p.Ser156Asn)
|
rs1554331549
|
0.00004
|
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu)
|
rs757852291
|
0.00003
|
NM_003659.4(AGPS):c.870G>A (p.Gln290=)
|
rs534985206
|
0.00003
|
NM_000288.4(PEX7):c.244G>A (p.Val82Ile)
|
rs770777194
|
0.00002
|
NM_000288.4(PEX7):c.413A>G (p.Lys138Arg)
|
rs762113236
|
0.00002
|
NM_000288.4(PEX7):c.629A>G (p.Asn210Ser)
|
rs753193218
|
0.00002
|
NM_003659.4(AGPS):c.1245G>A (p.Pro415=)
|
rs200344160
|
0.00002
|
NM_000288.4(PEX7):c.115C>A (p.His39Asn)
|
rs1316023843
|
0.00001
|
NM_000288.4(PEX7):c.129G>C (p.Ala43=)
|
rs1256466654
|
0.00001
|
NM_000288.4(PEX7):c.193G>A (p.Asp65Asn)
|
rs1229970963
|
0.00001
|
NM_000288.4(PEX7):c.296A>G (p.Lys99Arg)
|
rs367806635
|
0.00001
|
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys)
|
rs769137963
|
0.00001
|
NM_000288.4(PEX7):c.701C>T (p.Pro234Leu)
|
rs759158962
|
0.00001
|
NM_003659.4(AGPS):c.1437A>G (p.Gln479=)
|
rs753932510
|
0.00001
|
NM_003659.4(AGPS):c.14C>T (p.Ala5Val)
|
rs1233318758
|
0.00001
|
NM_003659.4(AGPS):c.186A>G (p.Arg62=)
|
rs990214554
|
0.00001
|
NM_003659.4(AGPS):c.200C>T (p.Ala67Val)
|
rs1454806934
|
0.00001
|
NM_003659.4(AGPS):c.354C>T (p.Tyr118=)
|
rs200594024
|
0.00001
|
NM_003659.4(AGPS):c.40G>T (p.Gly14Cys)
|
rs1217837187
|
0.00001
|
NM_003659.4(AGPS):c.57C>T (p.Tyr19=)
|
rs1346009699
|
0.00001
|
NM_000288.3(PEX7):c.-88T>C
|
rs886061115
|
|
NM_000288.4(PEX7):c.*305_*310del
|
rs886061123
|
|
NM_000288.4(PEX7):c.121G>C (p.Gly41Arg)
|
rs1210968366
|
|
NM_000288.4(PEX7):c.331G>A (p.Ala111Thr)
|
rs368225510
|
|
NM_000288.4(PEX7):c.693A>G (p.Val231=)
|
rs1582759944
|
|
NM_000288.4(PEX7):c.832C>T (p.Leu278Phe)
|
rs1775685342
|
|
NM_000288.4(PEX7):c.917C>T (p.Ser306Phe)
|
rs267608258
|
|
NM_000288.4(PEX7):c.968C>A (p.Ala323Asp)
|
rs1184131500
|
|
NM_000288.4(PEX7):c.970T>C (p.Ter324Arg)
|
rs988988279
|
|
NM_003659.4(AGPS):c.*1105dup
|
rs574941020
|
|
NM_003659.4(AGPS):c.*1811_*1812insAAAA
|
rs138605667
|
|
NM_003659.4(AGPS):c.*1836_*1841del
|
rs886055177
|
|
NM_003659.4(AGPS):c.*1838AT[10]
|
rs373957026
|
|
NM_003659.4(AGPS):c.*1838AT[12]
|
rs373957026
|
|
NM_003659.4(AGPS):c.*1860_*1861dup
|
rs1553519847
|
|
NM_003659.4(AGPS):c.*1862_*1863del
|
rs886055181
|
|
NM_003659.4(AGPS):c.*1862_*1867del
|
rs886055182
|
|
NM_003659.4(AGPS):c.*1863_*1864insATGT
|
rs886055183
|
|
NM_003659.4(AGPS):c.*1868GT[7]
|
rs1491154667
|
|
NM_003659.4(AGPS):c.*1868_*1869insCG
|
rs886055185
|
|
NM_003659.4(AGPS):c.*1878_*1883del
|
rs886055186
|
|
NM_003659.4(AGPS):c.*1878_*1885del
|
rs886055187
|
|
NM_003659.4(AGPS):c.*1880AT[11]
|
rs59535792
|
|
NM_003659.4(AGPS):c.*1880AT[7]
|
rs59535792
|
|
NM_003659.4(AGPS):c.*1880AT[8]
|
rs59535792
|
|
NM_003659.4(AGPS):c.*3911AGTTTT[1]
|
rs369534713
|
|
NM_003659.4(AGPS):c.*467_*475del
|
rs886055171
|
|
NM_003659.4(AGPS):c.1376A>G (p.Asp459Gly)
|
rs1688501814
|
|
NM_003659.4(AGPS):c.1566T>C (p.Tyr522=)
|
rs1224416609
|
|
NM_003659.4(AGPS):c.1762A>G (p.Ile588Val)
|
rs886055168
|
|
NM_003659.4(AGPS):c.1874A>C (p.Gln625Pro)
|
rs769818292
|
|
NM_003659.4(AGPS):c.197C>T (p.Ala66Val)
|
rs774854340
|
|
NM_003659.4(AGPS):c.258G>A (p.Lys86=)
|
rs1685066744
|
|
NM_003659.4(AGPS):c.582A>G (p.Ile194Met)
|
rs1686432818
|
|
NM_003659.4(AGPS):c.86CGGACC[3] (p.29PD[3])
|
rs886055162
|
|
NM_003659.4(AGPS):c.952G>A (p.Ala318Thr)
|
rs1171884922
|
|
NM_014236.4(GNPAT):c.1522+15T>C
|
rs200561922
|
|