NM_033225.6(CSMD1):c.6531G>A (p.Thr2177=)
|
rs898513
|
0.03218
|
NM_033225.6(CSMD1):c.3632-9C>G
|
rs17079864
|
0.02450
|
NM_033225.6(CSMD1):c.7855+10G>T
|
rs75127450
|
0.02269
|
NM_033225.6(CSMD1):c.6753C>T (p.His2251=)
|
rs34074837
|
0.02196
|
NM_033225.6(CSMD1):c.6120G>C (p.Met2040Ile)
|
rs6995799
|
0.01620
|
NM_033225.6(CSMD1):c.5280C>T (p.Gly1760=)
|
rs34652555
|
0.01537
|
NM_033225.6(CSMD1):c.2892T>C (p.His964=)
|
rs111736379
|
0.01274
|
NM_033225.6(CSMD1):c.2811G>C (p.Lys937Asn)
|
rs115021133
|
0.01092
|
NM_033225.6(CSMD1):c.1222+7C>T
|
rs74445968
|
0.00959
|
NM_033225.6(CSMD1):c.1225A>C (p.Arg409=)
|
rs146006696
|
0.00794
|
NM_033225.6(CSMD1):c.4867+10C>T
|
rs142542725
|
0.00720
|
NM_033225.6(CSMD1):c.932-7C>T
|
rs185199387
|
0.00676
|
NM_033225.6(CSMD1):c.3199C>T (p.Leu1067=)
|
rs117715350
|
0.00613
|
NM_033225.6(CSMD1):c.4638C>T (p.Ser1546=)
|
rs61740651
|
0.00593
|
NM_033225.6(CSMD1):c.3087G>A (p.Ser1029=)
|
rs148290208
|
0.00550
|
NM_033225.6(CSMD1):c.5583T>C (p.Gly1861=)
|
rs142880495
|
0.00523
|
NM_033225.6(CSMD1):c.3534T>G (p.Leu1178=)
|
rs147764737
|
0.00496
|
NM_033225.6(CSMD1):c.6081C>T (p.Phe2027=)
|
rs112571277
|
0.00480
|
NM_033225.6(CSMD1):c.2203T>G (p.Ser735Ala)
|
rs115440730
|
0.00454
|
NM_033225.6(CSMD1):c.4220G>C (p.Arg1407Thr)
|
rs147245019
|
0.00397
|
NM_033225.6(CSMD1):c.123C>T (p.Gly41=)
|
rs35620271
|
0.00378
|
NM_033225.6(CSMD1):c.1623C>T (p.Ser541=)
|
rs375577340
|
0.00352
|
NM_033225.6(CSMD1):c.1662G>A (p.Pro554=)
|
rs182017822
|
0.00350
|
NM_033225.6(CSMD1):c.357T>G (p.Thr119=)
|
rs151160104
|
0.00311
|
NM_033225.6(CSMD1):c.1223-7T>C
|
rs138793470
|
0.00307
|
NM_033225.6(CSMD1):c.1223-3C>T
|
rs184791554
|
0.00297
|
NM_033225.6(CSMD1):c.2244C>T (p.Ser748=)
|
rs146267457
|
0.00275
|
NM_033225.6(CSMD1):c.2071+9G>A
|
rs143074059
|
0.00255
|
NM_033225.6(CSMD1):c.2520C>T (p.Thr840=)
|
rs201401389
|
0.00215
|
NM_033225.6(CSMD1):c.1098-4T>C
|
rs117264731
|
0.00205
|
NM_033225.6(CSMD1):c.1737C>T (p.Ser579=)
|
rs200980155
|
0.00180
|
NM_033225.6(CSMD1):c.6978T>G (p.Thr2326=)
|
rs369171021
|
0.00179
|
NM_033225.6(CSMD1):c.7327A>G (p.Ile2443Val)
|
rs80307148
|
0.00171
|
NM_033225.6(CSMD1):c.818+10G>C
|
rs182868860
|
0.00159
|
NM_033225.6(CSMD1):c.5344C>A (p.Gln1782Lys)
|
rs202157459
|
0.00140
|
NM_033225.6(CSMD1):c.2580C>T (p.Leu860=)
|
rs183456945
|
0.00133
|
NM_033225.6(CSMD1):c.1581T>C (p.Cys527=)
|
rs190257069
|
0.00113
|
NM_033225.6(CSMD1):c.5194+6C>T
|
rs187732904
|
0.00074
|
NM_033225.6(CSMD1):c.3033C>T (p.Gly1011=)
|
rs140611844
|
0.00073
|
NM_033225.6(CSMD1):c.4044G>C (p.Trp1348Cys)
|
rs149028484
|
0.00070
|
NM_033225.6(CSMD1):c.1137C>T (p.Tyr379=)
|
rs377719634
|
0.00064
|
NM_033225.6(CSMD1):c.563G>A (p.Ser188Asn)
|
rs36042022
|
0.00063
|
NM_033225.6(CSMD1):c.3891G>A (p.Pro1297=)
|
rs191537593
|
0.00061
|
NM_033225.6(CSMD1):c.5930C>T (p.Thr1977Met)
|
rs201704028
|
0.00058
|
NM_033225.6(CSMD1):c.4056C>T (p.Ala1352=)
|
rs137933937
|
0.00057
|
NM_033225.6(CSMD1):c.7521C>T (p.Thr2507=)
|
rs367730492
|
0.00057
|
NM_033225.6(CSMD1):c.5703T>C (p.Ala1901=)
|
rs771823696
|
0.00026
|
NM_033225.6(CSMD1):c.2070C>G (p.Thr690=)
|
rs750556000
|
0.00021
|
NM_033225.6(CSMD1):c.1809A>G (p.Glu603=)
|
rs200038564
|
0.00020
|
NM_033225.6(CSMD1):c.384G>A (p.Val128=)
|
rs1367655639
|
0.00013
|
NM_033225.6(CSMD1):c.6609-9C>G
|
rs1025378344
|
0.00006
|
NM_033225.6(CSMD1):c.6696C>G (p.Val2232=)
|
rs776317906
|
0.00006
|
NM_033225.6(CSMD1):c.1605T>C (p.Tyr535=)
|
rs1178546698
|
0.00001
|
NM_033225.6(CSMD1):c.2784T>C (p.Ala928=)
|
rs774266328
|
0.00001
|
NM_033225.6(CSMD1):c.4053C>T (p.Ser1351=)
|
rs779320746
|
0.00001
|
GRCh37/hg19 8p23.2(chr8:2231762-3922120)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:2295883-3142724)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:2321811-2925850)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:2324136-2919891)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:2324955-2916911)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:2330753-3308092)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:2330753-3908191)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:2340120-2920183)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:2343544-2802745)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:2347502-3879883)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:2347851-2920183)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:2397864-2865980)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:2450929-3140878)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:2453130-3128174)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:2667865-2971455)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:2784417-2984670)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:2784418-4130320)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:2796107-3267129)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:2858453-4046658)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:2887210-2890158)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:2887210-2890763)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:2887432-2890763)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:2887432-2891804)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:2887904-2891804)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:3020608-3235163)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:3025189-3506725)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:3025189-3509893)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:3025264-3509878)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:3082365-3140878)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:3153093-3164019)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:3161195-3265217)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:3332235-3428314)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:3370480-3461712)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:3373476-3474348)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:3499811-3523100)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:3548368-3685567)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:3637553-4380668)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:3686944-5951565)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:3699688-6075093)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:3770990-4363239)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:3836835-4011218)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:3865670-3875497)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:3867513-3875497)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:3869918-3952096)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:3875222-4790362)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:3894139-4298116)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:3923848-6068396)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:3928521-3975865)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:3942747-4032622)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:3980158-4017692)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:3997289-4003808)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:4090449-4282088)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:4090790-4186554)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:4109163-4195287)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:4117538-4123595)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:4117538-4124105)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:4117538-4130688)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:4117538-4130911)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:4122628-4125066)x0
|
|
|
GRCh37/hg19 8p23.2(chr8:4122961-4126540)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:4122961-4130911)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:4205481-4277719)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:4229780-4339998)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:4247642-4311968)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:4257817-4346334)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:4314917-4402031)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:4315838-4384398)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:4388614-4548121)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:4416645-6149421)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:4468542-4485724)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:4473824-4485724)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:4497742-4630806)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:4564077-4660585)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:4627197-4665649)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:4710970-4755990)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:4710970-4770880)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:4732666-5012510)x1
|
|
|
GRCh37/hg19 8p23.2(chr8:4762586-5131122)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:4762586-5135829)x3
|
|
|
GRCh37/hg19 8p23.2(chr8:4762669-5138651)x3
|
|
|
GRCh37/hg19 8p23.3-23.2(chr8:2164004-3265217)x1
|
|
|
GRCh37/hg19 8p23.3-23.2(chr8:2179549-3146596)x3
|
|
|
GRCh37/hg19 8p23.3-23.2(chr8:2190479-3146596)x3
|
|
|
NM_033225.6(CSMD1):c.1029A>G (p.Ala343=)
|
rs1323596403
|
|
NM_033225.6(CSMD1):c.1284G>A (p.Pro428=)
|
|
|
NM_033225.6(CSMD1):c.1615A>C (p.Thr539Pro)
|
|
|
NM_033225.6(CSMD1):c.1681G>C (p.Gly561Arg)
|
|
|
NM_033225.6(CSMD1):c.186C>A (p.Ile62=)
|
|
|
NM_033225.6(CSMD1):c.1916C>T (p.Ala639Val)
|
|
|
NM_033225.6(CSMD1):c.1951C>T (p.Leu651=)
|
rs761287790
|
|
NM_033225.6(CSMD1):c.2073A>C (p.Thr691=)
|
|
|
NM_033225.6(CSMD1):c.2108C>G (p.Pro703Arg)
|
|
|
NM_033225.6(CSMD1):c.2280A>G (p.Gly760=)
|
rs544402145
|
|
NM_033225.6(CSMD1):c.2292G>T (p.Ala764=)
|
rs374326454
|
|
NM_033225.6(CSMD1):c.2298C>T (p.Ser766=)
|
|
|
NM_033225.6(CSMD1):c.2335A>C (p.Lys779Gln)
|
|
|
NM_033225.6(CSMD1):c.2343T>C (p.Ser781=)
|
|
|
NM_033225.6(CSMD1):c.2376A>G (p.Pro792=)
|
|
|
NM_033225.6(CSMD1):c.2377G>C (p.Gly793Arg)
|
|
|
NM_033225.6(CSMD1):c.2452C>T (p.Pro818Ser)
|
|
|
NM_033225.6(CSMD1):c.2475C>T (p.Ile825=)
|
rs774181273
|
|
NM_033225.6(CSMD1):c.2541G>A (p.Leu847=)
|
rs3802303
|
|
NM_033225.6(CSMD1):c.2681C>T (p.Thr894Ile)
|
|
|
NM_033225.6(CSMD1):c.2900-2A>C
|
|
|
NM_033225.6(CSMD1):c.2986G>A (p.Val996Ile)
|
|
|
NM_033225.6(CSMD1):c.3108A>G (p.Thr1036=)
|
rs4875703
|
|
NM_033225.6(CSMD1):c.3169A>G (p.Ile1057Val)
|
|
|
NM_033225.6(CSMD1):c.3232G>C (p.Glu1078Gln)
|
|
|
NM_033225.6(CSMD1):c.3643G>T (p.Val1215Leu)
|
rs73657807
|
|
NM_033225.6(CSMD1):c.3678C>T (p.Gly1226=)
|
rs757040661
|
|
NM_033225.6(CSMD1):c.3708C>G (p.Thr1236=)
|
rs141170475
|
|
NM_033225.6(CSMD1):c.3708C>T (p.Thr1236=)
|
rs141170475
|
|
NM_033225.6(CSMD1):c.3768G>A (p.Leu1256=)
|
|
|
NM_033225.6(CSMD1):c.3779G>C (p.Ser1260Thr)
|
|
|
NM_033225.6(CSMD1):c.3795G>T (p.Val1265=)
|
|
|
NM_033225.6(CSMD1):c.3825G>A (p.Ala1275=)
|
|
|
NM_033225.6(CSMD1):c.3888T>G (p.Ala1296=)
|
rs1584970009
|
|
NM_033225.6(CSMD1):c.3975G>A (p.Thr1325=)
|
|
|
NM_033225.6(CSMD1):c.4236C>G (p.Thr1412=)
|
rs371300012
|
|
NM_033225.6(CSMD1):c.4485-3T>C
|
|
|
NM_033225.6(CSMD1):c.490G>A (p.Gly164Arg)
|
|
|
NM_033225.6(CSMD1):c.5031G>C (p.Leu1677Phe)
|
|
|
NM_033225.6(CSMD1):c.5055T>C (p.His1685=)
|
|
|
NM_033225.6(CSMD1):c.516C>T (p.Leu172=)
|
|
|
NM_033225.6(CSMD1):c.536G>T (p.Gly179Val)
|
|
|
NM_033225.6(CSMD1):c.543C>T (p.Ala181=)
|
|
|
NM_033225.6(CSMD1):c.5463A>T (p.Pro1821=)
|
rs1585601497
|
|
NM_033225.6(CSMD1):c.5498T>C (p.Ile1833Thr)
|
|
|
NM_033225.6(CSMD1):c.5668C>G (p.Leu1890Val)
|
|
|
NM_033225.6(CSMD1):c.5685C>T (p.Asp1895=)
|
rs1585575639
|
|
NM_033225.6(CSMD1):c.5781C>G (p.Ile1927Met)
|
rs35444669
|
|
NM_033225.6(CSMD1):c.579A>T (p.Ala193=)
|
rs371163239
|
|
NM_033225.6(CSMD1):c.5829C>T (p.Pro1943=)
|
|
|
NM_033225.6(CSMD1):c.582G>A (p.Ser194=)
|
rs377756447
|
|
NM_033225.6(CSMD1):c.5904C>G (p.Pro1968=)
|
|
|
NM_033225.6(CSMD1):c.6029A>G (p.Tyr2010Cys)
|
|
|
NM_033225.6(CSMD1):c.6063C>G (p.Thr2021=)
|
|
|
NM_033225.6(CSMD1):c.6063C>T (p.Thr2021=)
|
rs374372985
|
|
NM_033225.6(CSMD1):c.6173A>T (p.His2058Leu)
|
|
|
NM_033225.6(CSMD1):c.6285T>A (p.Asn2095Lys)
|
rs1424949859
|
|
NM_033225.6(CSMD1):c.6343C>G (p.Pro2115Ala)
|
rs865819789
|
|
NM_033225.6(CSMD1):c.6427G>A (p.Asp2143Asn)
|
|
|
NM_033225.6(CSMD1):c.6523C>T (p.Leu2175Phe)
|
|
|
NM_033225.6(CSMD1):c.6610G>A (p.Asp2204Asn)
|
|
|
NM_033225.6(CSMD1):c.6630A>G (p.Ser2210=)
|
rs1585370862
|
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NM_033225.6(CSMD1):c.677C>G (p.Ser226Ter)
|
|
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NM_033225.6(CSMD1):c.684C>T (p.Tyr228=)
|
|
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NM_033225.6(CSMD1):c.7212G>C (p.Arg2404Ser)
|
|
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NM_033225.6(CSMD1):c.735C>G (p.Thr245=)
|
|
|
NM_033225.6(CSMD1):c.7464A>G (p.Pro2488=)
|
|
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NM_033225.6(CSMD1):c.7491C>T (p.Ile2497=)
|
|
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NM_033225.6(CSMD1):c.7821G>A (p.Thr2607=)
|
|
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