NM_000466.3(PEX1):c.2331C>A (p.Gly777=)
|
rs10278857
|
0.93013
|
NM_000466.3(PEX1):c.1804-144A>T
|
rs6465359
|
0.91679
|
NM_000466.3(PEX1):c.1359+155C>A
|
rs38807
|
0.87539
|
NM_000466.3(PEX1):c.358-15G>A
|
rs38809
|
0.86650
|
NM_000466.3(PEX1):c.2584-245A>T
|
rs10953071
|
0.86496
|
NM_000466.3(PEX1):c.1670+219T>C
|
rs11767684
|
0.31565
|
NM_000466.3(PEX1):c.1484-36G>A
|
rs2111200
|
0.25489
|
NM_000466.3(PEX1):c.1671-314C>T
|
rs7791858
|
0.24006
|
NM_000466.3(PEX1):c.2718+183C>A
|
rs10269874
|
0.12962
|
NM_000466.3(PEX1):c.1804-28G>A
|
rs10236856
|
0.07802
|
NM_000466.3(PEX1):c.1803+235A>G
|
rs7809455
|
0.05706
|
NM_000466.3(PEX1):c.2417-42T>C
|
rs3213609
|
0.05567
|
NM_000466.3(PEX1):c.2719-244G>A
|
rs73710409
|
0.05413
|
NM_000466.3(PEX1):c.358-11G>C
|
rs113104510
|
0.04153
|
NM_000466.3(PEX1):c.1240-279G>A
|
rs112904813
|
0.04145
|
NM_000466.3(PEX1):c.473-18G>A
|
rs2066743
|
0.03344
|
NM_000466.3(PEX1):c.1360-209G>A
|
rs6946364
|
0.03237
|
NM_000466.3(PEX1):c.1360-336A>C
|
rs61492841
|
0.02935
|
NM_000466.3(PEX1):c.2718+134A>G
|
rs76587269
|
0.02817
|
NM_000466.3(PEX1):c.2584-20T>A
|
rs111535201
|
0.02687
|
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met)
|
rs35996821
|
0.02553
|
NM_000466.3(PEX1):c.2226+139A>G
|
rs111474000
|
0.01659
|
NM_000466.3(PEX1):c.1671-7T>C
|
rs74519968
|
0.01312
|
NM_000466.3(PEX1):c.1239+161C>G
|
rs113848550
|
0.00886
|
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser)
|
rs138183109
|
0.00874
|
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys)
|
rs112822975
|
0.00803
|
NM_000466.3(PEX1):c.1484-106A>G
|
rs200489532
|
0.00720
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val)
|
rs145350631
|
0.00021
|
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn)
|
rs143273433
|
0.00014
|
NM_000466.3(PEX1):c.1587+5T>C
|
rs199526105
|
0.00011
|
NM_000466.3(PEX1):c.1256G>A (p.Arg419Lys)
|
rs748937542
|
0.00006
|
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn)
|
rs372485912
|
0.00006
|
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)
|
rs61750418
|
0.00005
|
NM_000466.3(PEX1):c.1239+1G>T
|
rs756876301
|
0.00002
|
NM_000466.3(PEX1):c.782_783del (p.Gln261fs)
|
rs749067142
|
0.00002
|
NM_000466.3(PEX1):c.2071+1G>T
|
rs267608177
|
0.00001
|
NM_000466.3(PEX1):c.2195A>G (p.Gln732Arg)
|
rs147069266
|
0.00001
|
NM_000466.3(PEX1):c.2408C>T (p.Thr803Ile)
|
rs750911436
|
0.00001
|
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)
|
rs61750422
|
0.00001
|
NM_000466.3(PEX1):c.2636T>C (p.Leu879Ser)
|
rs1362906637
|
0.00001
|
NM_000466.3(PEX1):c.706_720del (p.Pro236_Ser240del)
|
rs754890130
|
0.00001
|
NM_000466.3(PEX1):c.1070A>C (p.Lys357Thr)
|
rs2116243553
|
|
NM_000466.3(PEX1):c.1131del (p.Asp378fs)
|
rs886043479
|
|
NM_000466.3(PEX1):c.130-180del
|
rs71841826
|
|
NM_000466.3(PEX1):c.1484-95del
|
rs5885807
|
|
NM_000466.3(PEX1):c.1484-96_1484-95del
|
rs5885807
|
|
NM_000466.3(PEX1):c.1670+193del
|
rs202132988
|
|
NM_000466.3(PEX1):c.1671-120del
|
rs79143453
|
|
NM_000466.3(PEX1):c.1671-66dup
|
rs79002315
|
|
NM_000466.3(PEX1):c.1742G>A (p.Arg581Gln)
|
rs370483961
|
|
NM_000466.3(PEX1):c.1803+185_1803+187del
|
rs150645900
|
|
NM_000466.3(PEX1):c.1823T>C (p.Leu608Ser)
|
|
|
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer)
|
rs1398892633
|
|
NM_000466.3(PEX1):c.1899A>T (p.Arg633=)
|
rs2116175839
|
|
NM_000466.3(PEX1):c.1900+142_1900+143insTCTTAGAAATTTTAAG
|
rs11269897
|
|
NM_000466.3(PEX1):c.1900+2T>C
|
rs1562857198
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000466.3(PEX1):c.2226+57del
|
rs138118520
|
|
NM_000466.3(PEX1):c.2227-11T>A
|
rs760316851
|
|
NM_000466.3(PEX1):c.2227-3T>A
|
|
|
NM_000466.3(PEX1):c.2583+136del
|
rs3842627
|
|
NM_000466.3(PEX1):c.2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.2584-11_2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.2584-21dup
|
rs5885806
|
|
NM_000466.3(PEX1):c.2719-4A>G
|
|
|
NM_000466.3(PEX1):c.484C>T (p.Pro162Ser)
|
rs2116247732
|
|