NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln)
|
rs61753231
|
0.00002
|
NM_000287.4(PEX6):c.2734G>A (p.Ala912Thr)
|
rs374549180
|
0.00002
|
NM_000287.4(PEX6):c.1233+1G>A
|
rs763459576
|
0.00001
|
NM_000287.4(PEX6):c.1234-1G>T
|
rs1554127533
|
0.00001
|
NM_000287.4(PEX6):c.2362+1G>A
|
rs1443107232
|
0.00001
|
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln)
|
rs61753229
|
0.00001
|
NM_004813.4(PEX16):c.679C>T (p.Arg227Trp)
|
rs1064794320
|
0.00001
|
NC_000006.11:g.(?_42931601)_(42937735_?)del
|
|
|
NM_000287.4(PEX6):c.1046+1G>T
|
|
|
NM_000287.4(PEX6):c.1130+1G>A
|
rs267608213
|
|
NM_000287.4(PEX6):c.1234-2A>G
|
rs2114247797
|
|
NM_000287.4(PEX6):c.1367+1G>A
|
rs1769988075
|
|
NM_000287.4(PEX6):c.1367+2T>C
|
|
|
NM_000287.4(PEX6):c.1368-2del
|
rs1554127415
|
|
NM_000287.4(PEX6):c.1479+1G>A
|
|
|
NM_000287.4(PEX6):c.1479+2del
|
rs1554127383
|
|
NM_000287.4(PEX6):c.1689-1G>A
|
rs267608223
|
|
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile)
|
rs61753224
|
|
NM_000287.4(PEX6):c.1884+1G>A
|
|
|
NM_000287.4(PEX6):c.1885-1G>A
|
|
|
NM_000287.4(PEX6):c.2094+1G>A
|
rs1581760572
|
|
NM_000287.4(PEX6):c.2095-2A>G
|
|
|
NM_000287.4(PEX6):c.2363-2A>C
|
rs1769772582
|
|
NM_000287.4(PEX6):c.2363-2A>G
|
|
|
NM_000287.4(PEX6):c.2435_2436delinsAA (p.Arg812Gln)
|
rs2114238521
|
|
NM_000287.4(PEX6):c.2471+1G>A
|
|
|
NM_000287.4(PEX6):c.2472-1G>A
|
|
|
NM_000287.4(PEX6):c.2472-2A>G
|
rs267608242
|
|
NM_000287.4(PEX6):c.2584G>C (p.Gly862Arg)
|
|
|
NM_000287.4(PEX6):c.2589-1G>A
|
|
|
NM_000287.4(PEX6):c.2589-1G>T
|
rs2114237186
|
|
NM_000287.4(PEX6):c.2666+1G>T
|
rs2114236937
|
|
NM_000287.4(PEX6):c.2667-2A>G
|
rs267608249
|
|
NM_000287.4(PEX6):c.883-2A>G
|
|
|
NM_000287.4(PEX6):c.883-6_887del
|
|
|
NM_004813.4(PEX16):c.112+2T>G
|
rs1590798080
|
|
NM_004813.4(PEX16):c.149-2A>G
|
|
|
NM_004813.4(PEX16):c.226-2A>C
|
|
|
NM_004813.4(PEX16):c.359+1G>A
|
|
|
NM_004813.4(PEX16):c.694+1G>A
|
rs2134692847
|
|
NM_004813.4(PEX16):c.887+2T>G
|
rs2134691627
|
|
NM_004813.4(PEX16):c.888-1G>C
|
|
|
NM_004813.4(PEX16):c.888-2A>C
|
rs2086772786
|
|