NM_006214.4(PHYH):c.153C>T (p.Asn51=)
|
rs1747682
|
0.96869
|
NM_000288.4(PEX7):c.*306T>G
|
rs1050803
|
0.51106
|
NM_006214.4(PHYH):c.636A>G (p.Thr212=)
|
rs473407
|
0.28866
|
NM_006214.4(PHYH):c.*65G>A
|
rs11133
|
0.27698
|
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser)
|
rs28938169
|
0.15001
|
NM_000288.4(PEX7):c.-56C>T
|
rs73777751
|
0.11791
|
NM_000288.4(PEX7):c.-31G>A
|
rs115866467
|
0.02411
|
NM_006214.4(PHYH):c.678+15C>T
|
rs140995522
|
0.00717
|
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln)
|
rs62619919
|
0.00690
|
NM_006214.4(PHYH):c.643G>A (p.Gly215Ser)
|
rs7901902
|
0.00603
|
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)
|
rs113268723
|
0.00376
|
NM_006214.4(PHYH):c.126A>G (p.Gln42=)
|
rs150631501
|
0.00371
|
NM_006214.4(PHYH):c.*22T>G
|
rs186628076
|
0.00370
|
NM_006214.4(PHYH):c.*47G>A
|
rs180770135
|
0.00192
|
NM_000288.4(PEX7):c.*38G>A
|
rs41288965
|
0.00188
|
NM_000288.3(PEX7):c.-77T>C
|
rs1321472
|
0.00160
|
NM_006214.4(PHYH):c.356C>T (p.Thr119Met)
|
rs34571629
|
0.00155
|
NM_000288.4(PEX7):c.*272A>G
|
rs186705952
|
0.00145
|
NM_006214.4(PHYH):c.601C>G (p.Arg201Gly)
|
rs143957922
|
0.00124
|
NM_006214.4(PHYH):c.321G>A (p.Ser107=)
|
rs115198308
|
0.00106
|
NM_006214.4(PHYH):c.829-3C>A
|
rs116930123
|
0.00093
|
NM_000288.4(PEX7):c.615C>T (p.Asp205=)
|
rs147298444
|
0.00085
|
NM_000288.4(PEX7):c.418-4G>T
|
rs199552223
|
0.00054
|
NM_006214.4(PHYH):c.678+5G>T
|
rs201499815
|
0.00049
|
NM_006214.4(PHYH):c.792C>T (p.His264=)
|
rs372047384
|
0.00034
|
NM_000288.4(PEX7):c.94C>T (p.Leu32=)
|
rs886061118
|
0.00032
|
NM_006214.4(PHYH):c.948T>C (p.Asn316=)
|
rs143734330
|
0.00024
|
NM_006214.4(PHYH):c.*188A>C
|
rs1307667521
|
0.00023
|
NM_000288.4(PEX7):c.188+3A>G
|
rs200234391
|
0.00019
|
NM_006214.4(PHYH):c.581C>T (p.Thr194Met)
|
rs141554572
|
0.00019
|
NM_006214.4(PHYH):c.135-2A>G
|
rs201578674
|
0.00017
|
NM_006214.4(PHYH):c.606C>A (p.Asn202Lys)
|
rs201979258
|
0.00015
|
NM_000288.3(PEX7):c.-91G>A
|
rs772358439
|
0.00013
|
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)
|
rs191969418
|
0.00011
|
NM_006214.4(PHYH):c.*25C>T
|
rs760780410
|
0.00008
|
NM_006214.4(PHYH):c.76-9A>T
|
rs368542152
|
0.00007
|
NM_000288.4(PEX7):c.*115A>G
|
rs41288967
|
0.00006
|
NM_000288.4(PEX7):c.340-10A>G
|
rs267608255
|
0.00006
|
NM_006214.4(PHYH):c.354C>G (p.Ile118Met)
|
rs779724199
|
0.00006
|
NM_006214.4(PHYH):c.*417A>G
|
rs1302015884
|
0.00005
|
NM_000288.4(PEX7):c.804-5C>T
|
rs369653173
|
0.00004
|
NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys)
|
rs201106072
|
0.00004
|
NM_000288.4(PEX7):c.*223T>A
|
rs774681133
|
0.00003
|
NM_000288.4(PEX7):c.576C>T (p.Ile192=)
|
rs776411851
|
0.00003
|
NM_000288.4(PEX7):c.903+8A>G
|
rs779919482
|
0.00003
|
NM_006214.4(PHYH):c.574G>A (p.Ala192Thr)
|
rs751660253
|
0.00003
|
NM_006214.4(PHYH):c.83A>G (p.His28Arg)
|
rs778011598
|
0.00002
|
NM_000288.4(PEX7):c.-28G>A
|
rs376808803
|
0.00001
|
NM_000288.4(PEX7):c.496C>T (p.His166Tyr)
|
rs1219430310
|
0.00001
|
NM_000288.4(PEX7):c.554T>C (p.Val185Ala)
|
rs1424846175
|
0.00001
|
NM_000288.4(PEX7):c.737G>A (p.Arg246Lys)
|
rs780186421
|
0.00001
|
NM_000288.4(PEX7):c.748-10T>C
|
rs886061122
|
0.00001
|
NM_000288.4(PEX7):c.843A>G (p.Thr281=)
|
rs767903764
|
0.00001
|
NM_000288.4(PEX7):c.961A>G (p.Ile321Val)
|
rs879706210
|
0.00001
|
NM_006214.4(PHYH):c.1009A>G (p.Asn337Asp)
|
rs758218321
|
0.00001
|
NM_006214.4(PHYH):c.245G>A (p.Arg82Gln)
|
rs886046830
|
0.00001
|
NM_006214.4(PHYH):c.703G>A (p.Gly235Arg)
|
rs750819521
|
0.00001
|
NM_000288.3(PEX7):c.-88T>C
|
rs886061115
|
|
NM_000288.4(PEX7):c.*124A>G
|
rs112796869
|
|
NM_000288.4(PEX7):c.*257_*258insAGT
|
rs1801001
|
|
NM_000288.4(PEX7):c.*305C>A
|
rs567568009
|
|
NM_000288.4(PEX7):c.*305C>T
|
rs567568009
|
|
NM_000288.4(PEX7):c.*305_*310del
|
rs886061123
|
|
NM_000288.4(PEX7):c.*367T>C
|
rs886061124
|
|
NM_000288.4(PEX7):c.-18C>T
|
rs991168664
|
|
NM_000288.4(PEX7):c.-35G>A
|
rs886061116
|
|
NM_000288.4(PEX7):c.-3G>A
|
rs886061117
|
|
NM_000288.4(PEX7):c.-65A>T
|
rs190537612
|
|
NM_000288.4(PEX7):c.-69C>A
|
rs528948146
|
|
NM_000288.4(PEX7):c.130+11G>T
|
rs886061119
|
|
NM_000288.4(PEX7):c.130+13C>A
|
rs886061120
|
|
NM_000288.4(PEX7):c.316G>C (p.Val106Leu)
|
rs886061121
|
|
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile)
|
rs1452611618
|
|
NM_006214.3(PHYH):c.-78G>T
|
rs886046832
|
|
NM_006214.4(PHYH):c.*189del
|
rs3839912
|
|
NM_006214.4(PHYH):c.*253G>T
|
rs550905616
|
|
NM_006214.4(PHYH):c.*434A>G
|
rs1835323896
|
|
NM_006214.4(PHYH):c.*499C>T
|
rs953706106
|
|
NM_006214.4(PHYH):c.-20G>C
|
rs546291238
|
|
NM_006214.4(PHYH):c.176A>C (p.Lys59Thr)
|
rs886046831
|
|
NM_006214.4(PHYH):c.321G>T (p.Ser107=)
|
rs115198308
|
|
NM_006214.4(PHYH):c.415-11del
|
rs140309981
|
|
NM_006214.4(PHYH):c.679-11T>A
|
rs886046828
|
|
NM_006214.4(PHYH):c.679G>T (p.Gly227Trp)
|
rs201936962
|
|
NM_006214.4(PHYH):c.739C>T (p.His247Tyr)
|
rs1835475877
|
|
NM_006214.4(PHYH):c.828+4A>T
|
rs1835471952
|
|
NM_006214.4(PHYH):c.93A>C (p.Ser31=)
|
rs202198596
|
|
NM_006214.4(PHYH):c.980G>A (p.Arg327Gln)
|
rs367851769
|
|