NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe)
|
rs150895887
|
0.00683
|
NM_001127649.3(PEX26):c.911G>A (p.Arg304His)
|
rs17851387
|
0.00121
|
NM_002618.4(PEX13):c.893T>C (p.Met298Thr)
|
rs138545154
|
0.00110
|
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser)
|
rs140963177
|
0.00046
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)
|
rs141510219
|
0.00016
|
NM_004813.4(PEX16):c.262G>A (p.Val88Met)
|
rs567165324
|
0.00009
|
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys)
|
rs541001298
|
0.00007
|
NM_001351132.2(PEX5):c.230G>A (p.Arg77His)
|
rs780957318
|
0.00006
|
NM_000277.3(PAH):c.842+1G>A
|
rs5030852
|
0.00004
|
NM_001351132.2(PEX5):c.1352G>A (p.Gly451Glu)
|
rs148266027
|
0.00004
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
0.00002
|
NM_000287.4(PEX6):c.611C>G (p.Ser204Ter)
|
rs773056086
|
0.00001
|
NM_000414.4(HSD17B4):c.1210-11C>G
|
rs779466683
|
0.00001
|
NM_000254.3(MTR):c.2405+1G>A
|
rs1664669480
|
|
NM_000254.3(MTR):c.2473+3A>G
|
rs1665277406
|
|
NM_000254.3(MTR):c.762C>T (p.Leu254=)
|
rs1661602756
|
|
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)
|
rs62508692
|
|
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer)
|
rs758055753
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_001351132.2(PEX5):c.533G>A (p.Gly178Glu)
|
rs749729761
|
|
NM_003630.3(PEX3):c.292_302del (p.Ser98fs)
|
rs748689554
|
|