NM_001329943.3(KIAA0586):c.1119G>A (p.Ser373=)
|
rs1748971
|
0.99666
|
NM_001329943.3(KIAA0586):c.3166C>G (p.Pro1056Ala)
|
rs1617510
|
0.97670
|
NM_001329943.3(KIAA0586):c.2528T>C (p.Leu843Pro)
|
rs1748986
|
0.97574
|
NM_001329943.3(KIAA0586):c.4495+3795T>C
|
rs28535751
|
0.42605
|
NM_001077418.3(TMEM231):c.582+17T>A
|
rs2738801
|
0.27293
|
NM_001077418.3(TMEM231):c.-6G>C
|
rs3743602
|
0.21908
|
NM_001382391.1(CSPP1):c.2392-17C>T
|
rs58448590
|
0.13329
|
NM_001382391.1(CSPP1):c.2630G>A (p.Arg877His)
|
rs16933182
|
0.12797
|
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val)
|
rs3743601
|
0.10494
|
NM_001077418.3(TMEM231):c.813G>A (p.Val271=)
|
rs2242406
|
0.08287
|
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser)
|
rs73989521
|
0.07946
|
NM_001382391.1(CSPP1):c.-34C>G
|
rs117210747
|
0.02944
|
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=)
|
rs6736435
|
0.02349
|
NM_001077418.3(TMEM231):c.582+8C>G
|
rs144252983
|
0.02257
|
NM_001382391.1(CSPP1):c.3313T>C (p.Trp1105Arg)
|
rs1808140
|
0.02204
|
NM_001329943.3(KIAA0586):c.4461T>C (p.Ile1487=)
|
rs11611
|
0.02142
|
NM_001044385.3(TMEM237):c.395+7A>G
|
rs78297522
|
0.01932
|
NM_016464.5(TMEM138):c.261G>A (p.Val87=)
|
rs35245221
|
0.01861
|
NM_001077418.3(TMEM231):c.582+3A>G
|
rs114290622
|
0.01823
|
NM_001382391.1(CSPP1):c.3138A>G (p.Lys1046=)
|
rs76567936
|
0.01632
|
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=)
|
rs78196225
|
0.01307
|
NM_001329943.3(KIAA0586):c.4560G>A (p.Pro1520=)
|
rs45568037
|
0.01255
|
NM_001329943.3(KIAA0586):c.2060-3T>C
|
rs17094553
|
0.01209
|
NM_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser)
|
rs190271845
|
0.01118
|
NM_001329943.3(KIAA0586):c.2553+11G>A
|
rs78511804
|
0.01083
|
NM_001329943.3(KIAA0586):c.1230A>G (p.Gly410=)
|
rs10135645
|
0.01047
|
NM_001382391.1(CSPP1):c.1977T>C (p.Thr659=)
|
rs114177619
|
0.00835
|
NM_001329943.3(KIAA0586):c.3920A>G (p.Asp1307Gly)
|
rs3783697
|
0.00806
|
NM_001382391.1(CSPP1):c.3110-11A>G
|
rs148930801
|
0.00781
|
NM_001044385.3(TMEM237):c.75-13T>C
|
rs116829037
|
0.00764
|
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly)
|
rs113941736
|
0.00760
|
NM_001329943.3(KIAA0586):c.1097A>T (p.Glu366Val)
|
rs59248588
|
0.00694
|
NM_001329943.3(KIAA0586):c.257T>C (p.Met86Thr)
|
rs74055693
|
0.00689
|
NM_001329943.3(KIAA0586):c.1439C>T (p.Thr480Ile)
|
rs61745119
|
0.00667
|
NM_001382391.1(CSPP1):c.3220+13A>G
|
rs139491415
|
0.00625
|
NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr)
|
rs61735931
|
0.00533
|
NM_001044385.3(TMEM237):c.80-11T>C
|
rs76296365
|
0.00503
|
NM_001329943.3(KIAA0586):c.1056A>G (p.Ser352=)
|
rs148006211
|
0.00501
|
NM_001382391.1(CSPP1):c.-121A>G
|
rs181470846
|
0.00481
|
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=)
|
rs201636741
|
0.00468
|
NM_018718.3(CEP41):c.208-5A>G
|
rs11765434
|
0.00453
|
NM_001382391.1(CSPP1):c.1391C>G (p.Ser464Cys)
|
rs146431326
|
0.00429
|
NM_001077418.3(TMEM231):c.891G>A (p.Val297=)
|
rs149888762
|
0.00375
|
NM_001382391.1(CSPP1):c.100-13A>G
|
rs78076942
|
0.00359
|
NM_001329943.3(KIAA0586):c.4047G>A (p.Ala1349=)
|
rs61729923
|
0.00314
|
NM_001329943.3(KIAA0586):c.1570T>A (p.Leu524Ile)
|
rs61742715
|
0.00313
|
NM_001382391.1(CSPP1):c.1798C>G (p.Gln600Glu)
|
rs73693125
|
0.00295
|
NM_001382391.1(CSPP1):c.484-15T>G
|
rs199671558
|
0.00290
|
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=)
|
rs61745066
|
0.00272
|
NM_001382391.1(CSPP1):c.3109+18C>T
|
rs139599638
|
0.00242
|
NM_001382391.1(CSPP1):c.3165T>C (p.Asp1055=)
|
rs10112748
|
0.00231
|
NM_001044385.3(TMEM237):c.136+8G>A
|
rs200618675
|
0.00220
|
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)
|
rs143303575
|
0.00218
|
NM_001044385.3(TMEM237):c.554-15G>A
|
rs144051344
|
0.00213
|
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=)
|
rs77570029
|
0.00211
|
NM_001044385.3(TMEM237):c.396-14C>T
|
rs74411816
|
0.00210
|
NM_001329943.3(KIAA0586):c.974A>T (p.Glu325Val)
|
rs144456198
|
0.00204
|
NM_001329943.3(KIAA0586):c.3283A>C (p.Lys1095Gln)
|
rs140565291
|
0.00202
|
NM_001329943.3(KIAA0586):c.4496-16C>T
|
rs111487478
|
0.00195
|
NM_018718.3(CEP41):c.575-12T>C
|
rs186638258
|
0.00185
|
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys)
|
rs193056942
|
0.00184
|
NM_001382391.1(CSPP1):c.965A>G (p.His322Arg)
|
rs141389465
|
0.00183
|
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr)
|
rs202215735
|
0.00182
|
NM_001382391.1(CSPP1):c.3285C>T (p.Pro1095=)
|
rs201008264
|
0.00173
|
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)
|
rs191125006
|
0.00163
|
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=)
|
rs149118721
|
0.00144
|
NM_001382391.1(CSPP1):c.3493C>T (p.Pro1165Ser)
|
rs200161440
|
0.00131
|
NM_001329943.3(KIAA0586):c.4125A>G (p.Gln1375=)
|
rs148016417
|
0.00128
|
NM_001382391.1(CSPP1):c.1245+15C>T
|
rs200874913
|
0.00125
|
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)
|
rs149240122
|
0.00111
|
NM_001329943.3(KIAA0586):c.1130-16A>C
|
rs187748315
|
0.00105
|
NM_001382391.1(CSPP1):c.2122A>G (p.Ser708Gly)
|
rs201316149
|
0.00101
|
NM_001329943.3(KIAA0586):c.200-14C>A
|
rs373882617
|
0.00098
|
NM_001329943.3(KIAA0586):c.600G>A (p.Leu200=)
|
rs61738360
|
0.00098
|
NM_001329943.3(KIAA0586):c.340+15T>C
|
rs139305633
|
0.00096
|
NM_001077418.3(TMEM231):c.900T>C (p.Ile300=)
|
rs199628375
|
0.00089
|
NM_001382391.1(CSPP1):c.2539-12T>A
|
rs185726462
|
0.00080
|
NM_001382391.1(CSPP1):c.924-11G>A
|
rs149756527
|
0.00080
|
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=)
|
rs375273015
|
0.00077
|
NM_001382391.1(CSPP1):c.3470-20G>T
|
rs148896413
|
0.00076
|
NM_001329943.3(KIAA0586):c.1583+15G>A
|
rs201295491
|
0.00061
|
NM_001382391.1(CSPP1):c.1023-20del
|
rs550798896
|
0.00056
|
NM_001329943.3(KIAA0586):c.2944+8A>C
|
rs571616049
|
0.00054
|
NM_001329943.3(KIAA0586):c.1129+11del
|
rs142477754
|
0.00040
|
NM_001329943.3(KIAA0586):c.3104G>A (p.Gly1035Asp)
|
rs77860620
|
0.00039
|
NM_001329943.3(KIAA0586):c.4311A>G (p.Glu1437=)
|
rs536603405
|
0.00037
|
NM_016464.5(TMEM138):c.216C>T (p.Asn72=)
|
rs145939072
|
0.00035
|
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala)
|
rs199500256
|
0.00034
|
NM_001329943.3(KIAA0586):c.2735C>T (p.Pro912Leu)
|
rs139493302
|
0.00029
|
NM_016464.5(TMEM138):c.327C>T (p.Ser109=)
|
rs201318247
|
0.00028
|
NM_001329943.3(KIAA0586):c.202T>A (p.Ser68Thr)
|
rs147119902
|
0.00026
|
NM_001382391.1(CSPP1):c.46T>C (p.Leu16=)
|
rs150924296
|
0.00021
|
NM_001077418.3(TMEM231):c.140-28C>G
|
rs375353411
|
0.00019
|
NM_001044385.3(TMEM237):c.869+10A>G
|
rs376868416
|
0.00016
|
NM_001329943.3(KIAA0586):c.1240G>A (p.Glu414Lys)
|
rs147844088
|
0.00015
|
NM_001329943.3(KIAA0586):c.42T>A (p.Ile14=)
|
rs554948147
|
0.00011
|
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=)
|
rs557695110
|
0.00007
|
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly)
|
rs141025803
|
0.00006
|
NM_001329943.3(KIAA0586):c.3774C>G (p.Ala1258=)
|
rs199982600
|
0.00005
|
NM_001044385.3(TMEM237):c.274+11A>G
|
rs200487330
|
0.00004
|
NM_001044385.3(TMEM237):c.33G>A (p.Glu11=)
|
rs544767440
|
0.00004
|
NM_001329943.3(KIAA0586):c.1543G>A (p.Ala515Thr)
|
rs568910724
|
0.00004
|
NM_001382391.1(CSPP1):c.924-9G>A
|
rs199910808
|
0.00004
|
NM_016464.5(TMEM138):c.387G>A (p.Leu129=)
|
rs553815473
|
0.00004
|
NM_001044385.3(TMEM237):c.396-13G>A
|
rs570600190
|
0.00003
|
NM_001044385.3(TMEM237):c.74+16A>G
|
rs538615771
|
0.00002
|
NM_001329943.3(KIAA0586):c.1323C>T (p.Asp441=)
|
rs574658488
|
0.00001
|
NM_001329943.3(KIAA0586):c.4495+3802G>A
|
rs541632685
|
0.00001
|
NM_001382391.1(CSPP1):c.1521C>T (p.Pro507=)
|
rs199923715
|
0.00001
|
NC_000016.9:g.(?_75573892)_(75575373_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75576601_?)dup
|
|
|
NM_001044385.3(TMEM237):c.1159+17del
|
rs766664373
|
|
NM_001044385.3(TMEM237):c.1159+17dup
|
|
|
NM_001044385.3(TMEM237):c.678-20_678-17del
|
rs754336127
|
|
NM_001044385.3(TMEM237):c.80-18dup
|
rs747217784
|
|
NM_001044385.3(TMEM237):c.870-13_870-12del
|
rs555284377
|
|
NM_001329943.3(KIAA0586):c.100G>T (p.Val34Phe)
|
rs186659284
|
|
NM_001329943.3(KIAA0586):c.1584-5del
|
|
|
NM_001329943.3(KIAA0586):c.199+23del
|
rs537837939
|
|
NM_001329943.3(KIAA0586):c.2944+24dup
|
rs768128741
|
|
NM_001329943.3(KIAA0586):c.2945-9del
|
|
|
NM_001329943.3(KIAA0586):c.3144+15del
|
|
|
NM_001329943.3(KIAA0586):c.3165_3166delinsAG (p.Pro1056Ala)
|
rs386777947
|
|
NM_001329943.3(KIAA0586):c.3305-8dup
|
rs5808973
|
|
NM_001329943.3(KIAA0586):c.3305-9_3305-8dup
|
rs5808973
|
|
NM_001329943.3(KIAA0586):c.340+25dup
|
rs770708728
|
|
NM_001329943.3(KIAA0586):c.340+6del
|
|
|
NM_001329943.3(KIAA0586):c.567C>T (p.Thr189=)
|
|
|
NM_001329943.3(KIAA0586):c.962-10dup
|
rs1431902070
|
|
NM_001382391.1(CSPP1):c.-10-5del
|
|
|
NM_001382391.1(CSPP1):c.-10-5dup
|
rs536000854
|
|
NM_001382391.1(CSPP1):c.1023-7dup
|
rs781187284
|
|
NM_001382391.1(CSPP1):c.1288-12dup
|
rs759923250
|
|
NM_001382391.1(CSPP1):c.1619-8del
|
|
|
NM_001382391.1(CSPP1):c.200-5del
|
|
|
NM_001382391.1(CSPP1):c.200-5dup
|
rs775661180
|
|
NM_001382391.1(CSPP1):c.2128+25_2128+36del
|
rs11296619
|
|
NM_001382391.1(CSPP1):c.2128+34_2128+36del
|
rs11296619
|
|
NM_001382391.1(CSPP1):c.2128+35_2128+36del
|
rs11296619
|
|
NM_001382391.1(CSPP1):c.2128+36del
|
rs11296619
|
|
NM_001382391.1(CSPP1):c.2392-8_2392-4del
|
rs528357182
|
|
NM_001382391.1(CSPP1):c.2539-4del
|
rs754861164
|
|
NM_001382391.1(CSPP1):c.3330+17del
|
|
|
NM_001382391.1(CSPP1):c.385-16del
|
|
|
NM_001382391.1(CSPP1):c.385-9dup
|
|
|
NM_016464.5(TMEM138):c.129-11dup
|
|
|
NM_018718.3(CEP41):c.278-15A>T
|
rs142452124
|
|
NM_018718.3(CEP41):c.575-14del
|
rs144531086
|
|
NM_018718.3(CEP41):c.758-14dup
|
rs1156468685
|
|