NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln)
|
rs535271603
|
0.00006
|
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)
|
rs61750425
|
0.00004
|
NM_000466.3(PEX1):c.2926+2T>C
|
rs267608180
|
0.00001
|
NM_000466.3(PEX1):c.3208-1G>A
|
rs1057517518
|
0.00001
|
NM_000466.3(PEX1):c.3823C>T (p.Arg1275Ter)
|
rs755549316
|
0.00001
|
NM_000466.3(PEX1):c.2798dup (p.Pro934fs)
|
rs1057517484
|
|
NM_000466.3(PEX1):c.2817TGA[1] (p.Asp940del)
|
rs1554368794
|
|
NM_000466.3(PEX1):c.2852dup (p.His951fs)
|
rs767877383
|
|
NM_000466.3(PEX1):c.2859dup (p.Thr954fs)
|
rs1057517472
|
|
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)
|
rs1057517481
|
|
NM_000466.3(PEX1):c.2916del (p.Gly973fs)
|
rs61750426
|
|
NM_000466.3(PEX1):c.2922del (p.Leu974fs)
|
rs762324548
|
|
NM_000466.3(PEX1):c.2927-2A>G
|
rs1057517531
|
|
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)
|
rs61750428
|
|
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)
|
rs1484321655
|
|
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)
|
rs954814470
|
|
NM_000466.3(PEX1):c.3119_3130del (p.Asp1040_Thr1043del)
|
rs1554368148
|
|
NM_000466.3(PEX1):c.3207+2C>A
|
rs1554368097
|
|
NM_000466.3(PEX1):c.3237_3238del (p.Leu1081fs)
|
rs1057517509
|
|
NM_000466.3(PEX1):c.3332_3354del (p.Ser1110_Leu1111insTer)
|
rs1554367358
|
|
NM_000466.3(PEX1):c.3438+1G>T
|
rs1554367284
|
|
NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs)
|
rs759183382
|
|
NM_000466.3(PEX1):c.3455_3456dup (p.Ala1153fs)
|
rs759183382
|
|
NM_000466.3(PEX1):c.3547G>T (p.Glu1183Ter)
|
rs1057517480
|
|
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)
|
rs1057517467
|
|
NM_000466.3(PEX1):c.3580_3581del (p.Asp1194fs)
|
rs1160117945
|
|
NM_000466.3(PEX1):c.3626del (p.Ser1209fs)
|
rs1554366766
|
|
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)
|
rs769836601
|
|
NM_000466.3(PEX1):c.3732_3736dup (p.Ser1246fs)
|
rs1554366550
|
|
NM_000466.3(PEX1):c.3767+1_3767+2dup
|
rs1383361108
|
|
NM_000466.3(PEX1):c.3768-1G>A
|
rs770868309
|
|
NM_000466.3(PEX1):c.3768-2A>T
|
rs1554365998
|
|
NM_000466.3(PEX1):c.3807_3808dup (p.Ser1270fs)
|
rs758748151
|
|