NM_001378454.1(ALMS1):c.2015T>G (p.Val672Gly)
|
rs2037814
|
0.87820
|
NM_001378454.1(ALMS1):c.764+20T>A
|
rs1881246
|
0.49506
|
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=)
|
rs7598901
|
0.49457
|
NM_001378454.1(ALMS1):c.6336T>A (p.Ser2112Arg)
|
rs6724782
|
0.40522
|
NM_001378454.1(ALMS1):c.5626A>G (p.Ile1876Val)
|
rs6546838
|
0.40153
|
NM_001378454.1(ALMS1):c.8481G>T (p.Arg2827Ser)
|
rs2056486
|
0.39967
|
NM_001378454.1(ALMS1):c.8570A>G (p.Asn2857Ser)
|
rs10193972
|
0.39950
|
NM_001378454.1(ALMS1):c.4244G>C (p.Gly1415Ala)
|
rs6546837
|
0.39736
|
NM_001378454.1(ALMS1):c.9782-70G>A
|
rs3738848
|
0.39439
|
NM_001378454.1(ALMS1):c.4179A>G (p.Gln1393=)
|
rs6546836
|
0.38173
|
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro)
|
rs6546839
|
0.38002
|
NM_001378454.1(ALMS1):c.9540-259T>C
|
rs6711033
|
0.33751
|
NM_001378454.1(ALMS1):c.9907+160A>G
|
rs10178678
|
0.31362
|
NM_001378454.1(ALMS1):c.9561C>T (p.Thr3187=)
|
rs11884776
|
0.30410
|
NM_001378454.1(ALMS1):c.324+21G>A
|
rs11126399
|
0.27679
|
NM_001378454.1(ALMS1):c.*267T>A
|
rs62149804
|
0.14287
|
NM_001378454.1(ALMS1):c.6212T>C (p.Ile2071Thr)
|
rs10496192
|
0.13807
|
NM_001378454.1(ALMS1):c.7724G>A (p.Ser2575Asn)
|
rs3820700
|
0.13432
|
NM_001378454.1(ALMS1):c.8017G>C (p.Asp2673His)
|
rs2017116
|
0.13007
|
NM_001378454.1(ALMS1):c.12362+24C>T
|
rs114375547
|
0.07593
|
NM_001378454.1(ALMS1):c.12362+27A>G
|
rs17848872
|
0.07583
|
NM_001378454.1(ALMS1):c.12362+23A>T
|
rs116733486
|
0.07580
|
NM_001378454.1(ALMS1):c.3894A>G (p.Gln1298=)
|
rs112034360
|
0.06109
|
NM_001378454.1(ALMS1):c.9907+309G>A
|
rs34032338
|
0.05370
|
NM_001378454.1(ALMS1):c.9782-9C>T
|
rs10199680
|
0.03656
|
NM_001378454.1(ALMS1):c.9907+129T>G
|
rs73947814
|
0.03100
|
NM_001378454.1(ALMS1):c.11668+119A>G
|
rs11901974
|
0.02703
|
NM_001378454.1(ALMS1):c.12362+57C>T
|
rs116327057
|
0.02512
|
NM_001378454.1(ALMS1):c.9908-221A>G
|
rs138390176
|
0.02395
|
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn)
|
rs11896293
|
0.02293
|
NM_001378454.1(ALMS1):c.7541-180G>C
|
rs17009070
|
0.02274
|
NM_001378454.1(ALMS1):c.5786G>A (p.Arg1929Gln)
|
rs17009061
|
0.02260
|
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn)
|
rs28730853
|
0.02251
|
NM_001378454.1(ALMS1):c.10209T>A (p.Thr3403=)
|
rs34617744
|
0.02246
|
NM_001378454.1(ALMS1):c.9907+20C>T
|
rs74730457
|
0.02147
|
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser)
|
rs34927702
|
0.02105
|
NM_001378454.1(ALMS1):c.11523G>A (p.Glu3841=)
|
rs35760114
|
0.02099
|
NM_001378454.1(ALMS1):c.7541-163A>G
|
rs76317790
|
0.01787
|
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg)
|
rs115517108
|
0.01785
|
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu)
|
rs34071195
|
0.01772
|
NM_001378454.1(ALMS1):c.5169A>G (p.Gln1723=)
|
rs75434052
|
0.01769
|
NM_001378454.1(ALMS1):c.10335C>T (p.Pro3445=)
|
rs78108069
|
0.01749
|
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His)
|
rs11889925
|
0.01714
|
NM_001378454.1(ALMS1):c.2319G>A (p.Leu773=)
|
rs28730851
|
0.01669
|
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg)
|
rs41291187
|
0.01638
|
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp)
|
rs45608038
|
0.01548
|
NM_001378454.1(ALMS1):c.9540-305C>G
|
rs115031007
|
0.01537
|
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala)
|
rs28730849
|
0.01527
|
NM_001378454.1(ALMS1):c.12462+205G>C
|
rs28730865
|
0.01392
|
NM_001378454.1(ALMS1):c.1899A>G (p.Gln633=)
|
rs116033693
|
0.01292
|
NM_001378454.1(ALMS1):c.10213+22C>T
|
rs78983290
|
0.01216
|
NM_001378454.1(ALMS1):c.7675-64A>T
|
rs77286979
|
0.01211
|
NM_001378454.1(ALMS1):c.7675-66A>T
|
rs75510346
|
0.01210
|
NM_001378454.1(ALMS1):c.10214-214G>A
|
rs147356858
|
0.01192
|
NM_001378454.1(ALMS1):c.*154G>C
|
rs77779454
|
0.01084
|
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser)
|
rs77555300
|
0.01077
|
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn)
|
rs78039319
|
0.01071
|
NM_001378454.1(ALMS1):c.12363-294A>C
|
rs114257034
|
0.01064
|
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=)
|
rs62151609
|
0.00915
|
NM_001378454.1(ALMS1):c.2661A>G (p.Val887=)
|
rs76266696
|
0.00818
|
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys)
|
rs35062203
|
0.00814
|
NM_001378454.1(ALMS1):c.12362+181G>A
|
rs141980244
|
0.00689
|
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser)
|
rs45501594
|
0.00688
|
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro)
|
rs28730852
|
0.00579
|
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn)
|
rs34398445
|
0.00566
|
NM_001378454.1(ALMS1):c.12362+18A>T
|
rs535484933
|
0.00525
|
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly)
|
rs28730855
|
0.00515
|
NM_001378454.1(ALMS1):c.11872+18G>A
|
rs139647347
|
0.00482
|
NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=)
|
rs143885319
|
0.00467
|
NM_001378454.1(ALMS1):c.8742A>G (p.Val2914=)
|
rs142611294
|
0.00466
|
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly)
|
rs58093963
|
0.00429
|
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser)
|
rs75145370
|
0.00429
|
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser)
|
rs61741524
|
0.00422
|
NM_001378454.1(ALMS1):c.4605A>G (p.Gln1535=)
|
rs144720929
|
0.00412
|
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val)
|
rs7587103
|
0.00394
|
NM_001378454.1(ALMS1):c.1182T>C (p.Tyr394=)
|
rs139512700
|
0.00361
|
NM_001378454.1(ALMS1):c.10079-27T>G
|
rs187204111
|
0.00347
|
NM_001378454.1(ALMS1):c.7541-33T>C
|
rs28730856
|
0.00332
|
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu)
|
rs144486524
|
0.00310
|
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=)
|
rs28730858
|
0.00297
|
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala)
|
rs58806616
|
0.00296
|
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile)
|
rs45630557
|
0.00285
|
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)
|
rs188807564
|
0.00267
|
NM_001378454.1(ALMS1):c.2658A>G (p.Lys886=)
|
rs80133984
|
0.00262
|
NM_001378454.1(ALMS1):c.2730C>T (p.His910=)
|
rs189923349
|
0.00245
|
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=)
|
rs201446579
|
0.00245
|
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)
|
rs148040591
|
0.00225
|
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00215
|
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp)
|
rs201074268
|
0.00204
|
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro)
|
rs149096794
|
0.00163
|
NM_001378454.1(ALMS1):c.11601C>T (p.Phe3867=)
|
rs80009262
|
0.00162
|
NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser)
|
rs142022233
|
0.00158
|
NM_001378454.1(ALMS1):c.10079-11C>T
|
rs368250605
|
0.00151
|
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)
|
rs199573929
|
0.00146
|
NM_001378454.1(ALMS1):c.8274A>G (p.Gln2758=)
|
rs181226362
|
0.00143
|
NM_001378454.1(ALMS1):c.3732G>A (p.Lys1244=)
|
rs140670994
|
0.00138
|
NM_001378454.1(ALMS1):c.*90G>A
|
rs185304285
|
0.00127
|
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=)
|
rs147831309
|
0.00121
|
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=)
|
rs183390773
|
0.00119
|
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=)
|
rs45445398
|
0.00114
|
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr)
|
rs142278066
|
0.00102
|
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser)
|
rs189032342
|
0.00097
|
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=)
|
rs200459890
|
0.00080
|
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser)
|
rs199874928
|
0.00078
|
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly)
|
rs17848880
|
0.00077
|
NM_001378454.1(ALMS1):c.8919G>A (p.Ala2973=)
|
rs116854981
|
0.00076
|
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val)
|
rs78102263
|
0.00071
|
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys)
|
rs201816596
|
0.00068
|
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His)
|
rs142558799
|
0.00066
|
NM_001378454.1(ALMS1):c.3305A>C (p.Lys1102Thr)
|
rs185586839
|
0.00066
|
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=)
|
rs200491758
|
0.00066
|
NM_001378454.1(ALMS1):c.3942A>C (p.Ser1314=)
|
rs186449817
|
0.00065
|
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)
|
rs201390755
|
0.00065
|
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu)
|
rs200266868
|
0.00064
|
NM_001378454.1(ALMS1):c.4024G>A (p.Val1342Ile)
|
rs751346260
|
0.00062
|
NM_001378454.1(ALMS1):c.11223G>A (p.Glu3741=)
|
rs28730859
|
0.00061
|
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro)
|
rs202227966
|
0.00058
|
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln)
|
rs201673771
|
0.00058
|
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)
|
rs201252809
|
0.00057
|
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys)
|
rs201252375
|
0.00053
|
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala)
|
rs200467041
|
0.00051
|
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)
|
rs201819880
|
0.00048
|
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala)
|
rs200054604
|
0.00048
|
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser)
|
rs199917289
|
0.00045
|
NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp)
|
rs201874722
|
0.00044
|
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile)
|
rs200529564
|
0.00042
|
NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=)
|
rs35902379
|
0.00041
|
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val)
|
rs202111717
|
0.00041
|
NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala)
|
rs201804994
|
0.00039
|
NM_001378454.1(ALMS1):c.3307C>G (p.Pro1103Ala)
|
rs200257398
|
0.00038
|
NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=)
|
rs189914793
|
0.00037
|
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser)
|
rs201971114
|
0.00037
|
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe)
|
rs192499639
|
0.00036
|
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val)
|
rs200075429
|
0.00036
|
NM_001378454.1(ALMS1):c.7820C>G (p.Ala2607Gly)
|
rs140223281
|
0.00034
|
NM_001378454.1(ALMS1):c.9861A>G (p.Pro3287=)
|
rs114687298
|
0.00034
|
NM_001378454.1(ALMS1):c.6950T>C (p.Leu2317Pro)
|
rs185469456
|
0.00033
|
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly)
|
rs184779459
|
0.00032
|
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile)
|
rs373211307
|
0.00032
|
NM_001378454.1(ALMS1):c.1161T>C (p.His387=)
|
rs191091347
|
0.00030
|
NM_001378454.1(ALMS1):c.9617C>T (p.Thr3206Ile)
|
rs201624771
|
0.00029
|
NM_001378454.1(ALMS1):c.9777A>C (p.Thr3259=)
|
rs183325464
|
0.00029
|
NM_001378454.1(ALMS1):c.9781+19del
|
rs751238172
|
0.00029
|
NM_001378454.1(ALMS1):c.861C>T (p.Asp287=)
|
rs377281121
|
0.00028
|
NM_001378454.1(ALMS1):c.10086A>G (p.Ser3362=)
|
rs747033366
|
0.00027
|
NM_001378454.1(ALMS1):c.11626A>G (p.Asn3876Asp)
|
rs377130177
|
0.00026
|
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr)
|
rs369682692
|
0.00026
|
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro)
|
rs201213079
|
0.00026
|
NM_001378454.1(ALMS1):c.*188T>C
|
rs749890306
|
0.00023
|
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=)
|
rs371329585
|
0.00023
|
NM_001378454.1(ALMS1):c.-21C>T
|
rs530120421
|
0.00022
|
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp)
|
rs374663067
|
0.00022
|
NM_001378454.1(ALMS1):c.2536G>A (p.Gly846Arg)
|
rs201154998
|
0.00022
|
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu)
|
rs372619046
|
0.00022
|
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro)
|
rs201517720
|
0.00022
|
NM_001378454.1(ALMS1):c.4543G>A (p.Ala1515Thr)
|
rs183839621
|
0.00022
|
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln)
|
rs199615641
|
0.00022
|
NM_001378454.1(ALMS1):c.11772T>C (p.Asp3924=)
|
rs201924342
|
0.00021
|
NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu)
|
rs766187468
|
0.00021
|
NM_001378454.1(ALMS1):c.3867T>C (p.Tyr1289=)
|
rs369314182
|
0.00021
|
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=)
|
rs201478438
|
0.00021
|
NM_001378454.1(ALMS1):c.822T>C (p.Ser274=)
|
rs145009331
|
0.00021
|
NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser)
|
rs775431837
|
0.00020
|
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser)
|
rs199922877
|
0.00020
|
NM_001378454.1(ALMS1):c.6442C>A (p.Pro2148Thr)
|
rs377360750
|
0.00020
|
NM_001378454.1(ALMS1):c.8240T>G (p.Val2747Gly)
|
rs188857186
|
0.00020
|
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr)
|
rs201028172
|
0.00019
|
NM_001378454.1(ALMS1):c.11610A>G (p.Ser3870=)
|
rs188172095
|
0.00019
|
NM_001378454.1(ALMS1):c.3379C>T (p.Pro1127Ser)
|
rs182127619
|
0.00019
|
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg)
|
rs373366352
|
0.00019
|
NM_001378454.1(ALMS1):c.5297A>G (p.Asn1766Ser)
|
rs192863498
|
0.00019
|
NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr)
|
rs367656336
|
0.00019
|
NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg)
|
rs539112266
|
0.00019
|
NM_001378454.1(ALMS1):c.8644C>T (p.Leu2882Phe)
|
rs373944325
|
0.00019
|
NM_001378454.1(ALMS1):c.8779C>A (p.Arg2927=)
|
rs376244626
|
0.00019
|
NM_001378454.1(ALMS1):c.2893T>C (p.Tyr965His)
|
rs201180147
|
0.00018
|
NM_001378454.1(ALMS1):c.3812C>A (p.Pro1271Gln)
|
rs372563916
|
0.00017
|
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg)
|
rs200586877
|
0.00017
|
NM_001378454.1(ALMS1):c.11328C>T (p.His3776=)
|
rs45596541
|
0.00016
|
NM_001378454.1(ALMS1):c.11379T>C (p.Ala3793=)
|
rs377090880
|
0.00016
|
NM_001378454.1(ALMS1):c.4149A>G (p.Gln1383=)
|
rs370508895
|
0.00016
|
NM_001378454.1(ALMS1):c.471T>C (p.Cys157=)
|
rs367648094
|
0.00016
|
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys)
|
rs200293447
|
0.00015
|
NM_001378454.1(ALMS1):c.6812A>G (p.Asn2271Ser)
|
rs111659663
|
0.00015
|
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu)
|
rs199604280
|
0.00015
|
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val)
|
rs202228570
|
0.00015
|
NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg)
|
rs371516347
|
0.00014
|
NM_001378454.1(ALMS1):c.9633G>A (p.Lys3211=)
|
rs373013570
|
0.00014
|
NM_001378454.1(ALMS1):c.10218C>T (p.Ser3406=)
|
rs754938453
|
0.00013
|
NM_001378454.1(ALMS1):c.10651A>G (p.Asn3551Asp)
|
rs200992340
|
0.00013
|
NM_001378454.1(ALMS1):c.11213G>A (p.Arg3738Gln)
|
rs200378498
|
0.00013
|
NM_001378454.1(ALMS1):c.11868T>C (p.His3956=)
|
rs370489767
|
0.00013
|
NM_001378454.1(ALMS1):c.121G>C (p.Val41Leu)
|
rs201868751
|
0.00013
|
NM_001378454.1(ALMS1):c.4394C>T (p.Thr1465Met)
|
rs200980776
|
0.00013
|
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu)
|
rs376989302
|
0.00013
|
NM_001378454.1(ALMS1):c.6361G>C (p.Val2121Leu)
|
rs200368564
|
0.00013
|
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His)
|
rs200441305
|
0.00013
|
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr)
|
rs368957150
|
0.00012
|
NM_001378454.1(ALMS1):c.1977G>A (p.Thr659=)
|
rs201316401
|
0.00012
|
NM_001378454.1(ALMS1):c.2665A>G (p.Ile889Val)
|
rs377282102
|
0.00012
|
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala)
|
rs199649563
|
0.00012
|
NM_001378454.1(ALMS1):c.109G>C (p.Val37Leu)
|
rs774784126
|
0.00011
|
NM_001378454.1(ALMS1):c.1976C>T (p.Thr659Met)
|
rs199682595
|
0.00011
|
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu)
|
rs187132771
|
0.00011
|
NM_001378454.1(ALMS1):c.4886G>A (p.Arg1629Gln)
|
rs142917664
|
0.00011
|
NM_001378454.1(ALMS1):c.5347C>T (p.Leu1783=)
|
rs562434013
|
0.00011
|
NM_001378454.1(ALMS1):c.5842A>G (p.Ser1948Gly)
|
rs367728446
|
0.00011
|
NM_001378454.1(ALMS1):c.9359A>C (p.Lys3120Thr)
|
rs375038066
|
0.00011
|
NM_001378454.1(ALMS1):c.1867T>C (p.Ser623Pro)
|
rs767987501
|
0.00010
|
NM_001378454.1(ALMS1):c.2152C>T (p.His718Tyr)
|
rs199572177
|
0.00010
|
NM_001378454.1(ALMS1):c.3103C>T (p.Pro1035Ser)
|
rs531648685
|
0.00010
|
NM_001378454.1(ALMS1):c.3727G>C (p.Glu1243Gln)
|
rs372620412
|
0.00010
|
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp)
|
rs199615803
|
0.00010
|
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=)
|
rs371511963
|
0.00010
|
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=)
|
rs367862140
|
0.00010
|
NM_001378454.1(ALMS1):c.9600A>C (p.Ala3200=)
|
rs113808259
|
0.00010
|
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile)
|
rs549757247
|
0.00009
|
NM_001378454.1(ALMS1):c.3477G>T (p.Leu1159Phe)
|
rs575644902
|
0.00009
|
NM_001378454.1(ALMS1):c.4068G>C (p.Glu1356Asp)
|
rs376812264
|
0.00009
|
NM_001378454.1(ALMS1):c.568C>A (p.Leu190Met)
|
rs375838474
|
0.00009
|
NM_001378454.1(ALMS1):c.7140A>G (p.Gln2380=)
|
rs375593700
|
0.00008
|
NM_001378454.1(ALMS1):c.9496G>A (p.Glu3166Lys)
|
rs201208516
|
0.00008
|
NM_001378454.1(ALMS1):c.9908-12G>A
|
rs376627151
|
0.00008
|
NM_001378454.1(ALMS1):c.11265C>T (p.Ser3755=)
|
rs145984939
|
0.00007
|
NM_001378454.1(ALMS1):c.11748G>A (p.Glu3916=)
|
rs373364340
|
0.00007
|
NM_001378454.1(ALMS1):c.12362G>A (p.Arg4121Gln)
|
rs376602261
|
0.00007
|
NM_001378454.1(ALMS1):c.1516A>T (p.Ile506Phe)
|
rs555552377
|
0.00007
|
NM_001378454.1(ALMS1):c.8730T>C (p.His2910=)
|
rs374693631
|
0.00007
|
NM_001378454.1(ALMS1):c.9321A>G (p.Val3107=)
|
rs371108940
|
0.00007
|
NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp)
|
rs573748379
|
0.00006
|
NM_001378454.1(ALMS1):c.11414G>A (p.Arg3805Gln)
|
rs201646938
|
0.00006
|
NM_001378454.1(ALMS1):c.12389A>G (p.Gln4130Arg)
|
rs371587051
|
0.00006
|
NM_001378454.1(ALMS1):c.1548C>G (p.Asp516Glu)
|
rs202002052
|
0.00006
|
NM_001378454.1(ALMS1):c.1557G>A (p.Gln519=)
|
rs764869245
|
0.00006
|
NM_001378454.1(ALMS1):c.168C>T (p.Ser56=)
|
rs748955296
|
0.00006
|
NM_001378454.1(ALMS1):c.3096C>A (p.Gly1032=)
|
rs368659119
|
0.00006
|
NM_001378454.1(ALMS1):c.3399G>A (p.Lys1133=)
|
rs376683428
|
0.00006
|
NM_001378454.1(ALMS1):c.3568A>G (p.Thr1190Ala)
|
rs772287164
|
0.00006
|
NM_001378454.1(ALMS1):c.3578C>T (p.Ser1193Leu)
|
rs200636395
|
0.00006
|
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr)
|
rs373638043
|
0.00006
|
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys)
|
rs370398704
|
0.00006
|
NM_001378454.1(ALMS1):c.6458A>G (p.Gln2153Arg)
|
rs534635095
|
0.00006
|
NM_001378454.1(ALMS1):c.7277G>C (p.Cys2426Ser)
|
rs35649068
|
0.00006
|
NM_001378454.1(ALMS1):c.757C>T (p.Pro253Ser)
|
rs368153355
|
0.00006
|
NM_001378454.1(ALMS1):c.7846C>T (p.Arg2616Trp)
|
rs145383239
|
0.00006
|
NM_001378454.1(ALMS1):c.8168C>A (p.Ser2723Tyr)
|
rs368409205
|
0.00006
|
NM_001378454.1(ALMS1):c.11548-3T>C
|
rs555547573
|
0.00005
|
NM_001378454.1(ALMS1):c.12310A>G (p.Ile4104Val)
|
rs780286947
|
0.00005
|
NM_001378454.1(ALMS1):c.1710A>C (p.Val570=)
|
rs201095989
|
0.00005
|
NM_001378454.1(ALMS1):c.2629A>G (p.Asn877Asp)
|
rs776351580
|
0.00005
|
NM_001378454.1(ALMS1):c.2874C>T (p.Ser958=)
|
rs541122374
|
0.00005
|
NM_001378454.1(ALMS1):c.3860C>T (p.Ser1287Leu)
|
rs375231416
|
0.00005
|
NM_001378454.1(ALMS1):c.4173C>A (p.Phe1391Leu)
|
rs370406004
|
0.00005
|
NM_001378454.1(ALMS1):c.432G>A (p.Arg144=)
|
rs772143925
|
0.00005
|
NM_001378454.1(ALMS1):c.4857A>G (p.Ala1619=)
|
rs367772965
|
0.00005
|
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala)
|
rs770424780
|
0.00005
|
NM_001378454.1(ALMS1):c.60G>A (p.Glu20=)
|
rs183407241
|
0.00005
|
NM_001378454.1(ALMS1):c.8918C>T (p.Ala2973Val)
|
rs202110907
|
0.00005
|
NM_001378454.1(ALMS1):c.9018C>T (p.His3006=)
|
rs376757358
|
0.00005
|
NM_001378454.1(ALMS1):c.10038C>T (p.Ser3346=)
|
rs375436336
|
0.00004
|
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter)
|
rs772624348
|
0.00004
|
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs)
|
rs387906312
|
0.00004
|
NM_001378454.1(ALMS1):c.10823G>A (p.Arg3608Gln)
|
rs752052259
|
0.00004
|
NM_001378454.1(ALMS1):c.11032C>T (p.Arg3678Trp)
|
rs766771102
|
0.00004
|
NM_001378454.1(ALMS1):c.11293A>G (p.Ile3765Val)
|
rs758062371
|
0.00004
|
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=)
|
rs750087396
|
0.00004
|
NM_001378454.1(ALMS1):c.1238-9A>G
|
rs372652836
|
0.00004
|
NM_001378454.1(ALMS1):c.1339C>G (p.Pro447Ala)
|
rs377283762
|
0.00004
|
NM_001378454.1(ALMS1):c.1400C>T (p.Thr467Ile)
|
rs201990757
|
0.00004
|
NM_001378454.1(ALMS1):c.1420C>A (p.His474Asn)
|
rs200454461
|
0.00004
|
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp)
|
rs531859344
|
0.00004
|
NM_001378454.1(ALMS1):c.2269C>T (p.Pro757Ser)
|
rs200827630
|
0.00004
|
NM_001378454.1(ALMS1):c.3319T>C (p.Tyr1107His)
|
rs746162373
|
0.00004
|
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter)
|
rs751804613
|
0.00004
|
NM_001378454.1(ALMS1):c.4448T>C (p.Ile1483Thr)
|
rs370271775
|
0.00004
|
NM_001378454.1(ALMS1):c.6087T>C (p.Thr2029=)
|
rs199967386
|
0.00004
|
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr)
|
rs760068474
|
0.00004
|
NM_001378454.1(ALMS1):c.7464A>G (p.Gln2488=)
|
rs765766155
|
0.00004
|
NM_001378454.1(ALMS1):c.7577G>A (p.Gly2526Glu)
|
rs201654702
|
0.00004
|
NM_001378454.1(ALMS1):c.7812C>G (p.Phe2604Leu)
|
rs201739856
|
0.00004
|
NM_001378454.1(ALMS1):c.8109G>A (p.Pro2703=)
|
rs759983484
|
0.00004
|
NM_001378454.1(ALMS1):c.8711A>C (p.His2904Pro)
|
rs370508584
|
0.00004
|
NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln)
|
rs778162209
|
0.00004
|
NM_001378454.1(ALMS1):c.9386A>C (p.Gln3129Pro)
|
rs372015288
|
0.00004
|
NM_001378454.1(ALMS1):c.9782-19C>A
|
rs777706370
|
0.00004
|
NM_001378454.1(ALMS1):c.1032A>G (p.Ser344=)
|
rs376519124
|
0.00003
|
NM_001378454.1(ALMS1):c.10985A>G (p.Glu3662Gly)
|
rs377418428
|
0.00003
|
NM_001378454.1(ALMS1):c.12350A>G (p.Gln4117Arg)
|
rs200038446
|
0.00003
|
NM_001378454.1(ALMS1):c.12363-18A>C
|
rs199968770
|
0.00003
|
NM_001378454.1(ALMS1):c.1432+4C>T
|
rs200933935
|
0.00003
|
NM_001378454.1(ALMS1):c.1607C>G (p.Thr536Ser)
|
rs766105909
|
0.00003
|
NM_001378454.1(ALMS1):c.1772A>T (p.Asp591Val)
|
rs541118531
|
0.00003
|
NM_001378454.1(ALMS1):c.1773C>T (p.Asp591=)
|
rs369744185
|
0.00003
|
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=)
|
rs750362630
|
0.00003
|
NM_001378454.1(ALMS1):c.2134C>G (p.Leu712Val)
|
rs371524359
|
0.00003
|
NM_001378454.1(ALMS1):c.2196C>T (p.Asp732=)
|
rs754758293
|
0.00003
|
NM_001378454.1(ALMS1):c.2285G>C (p.Ser762Thr)
|
rs768930001
|
0.00003
|
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter)
|
rs758195453
|
0.00003
|
NM_001378454.1(ALMS1):c.2486A>G (p.His829Arg)
|
rs370830603
|
0.00003
|
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala)
|
rs201884768
|
0.00003
|
NM_001378454.1(ALMS1):c.3420C>T (p.Thr1140=)
|
rs1300610392
|
0.00003
|
NM_001378454.1(ALMS1):c.4447A>G (p.Ile1483Val)
|
rs749573527
|
0.00003
|
NM_001378454.1(ALMS1):c.4795A>G (p.Ile1599Val)
|
rs377671796
|
0.00003
|
NM_001378454.1(ALMS1):c.4856C>T (p.Ala1619Val)
|
rs1085307684
|
0.00003
|
NM_001378454.1(ALMS1):c.4883A>G (p.Tyr1628Cys)
|
rs375939859
|
0.00003
|
NM_001378454.1(ALMS1):c.5724G>C (p.Gln1908His)
|
rs779739318
|
0.00003
|
NM_001378454.1(ALMS1):c.6937A>G (p.Asn2313Asp)
|
rs766346478
|
0.00003
|
NM_001378454.1(ALMS1):c.7013C>T (p.Thr2338Ile)
|
rs373004988
|
0.00003
|
NM_001378454.1(ALMS1):c.7199G>A (p.Gly2400Glu)
|
rs373985919
|
0.00003
|
NM_001378454.1(ALMS1):c.7402A>G (p.Ser2468Gly)
|
rs1007457582
|
0.00003
|
NM_001378454.1(ALMS1):c.8074A>G (p.Lys2692Glu)
|
rs201025991
|
0.00003
|
NM_001378454.1(ALMS1):c.8122A>C (p.Met2708Leu)
|
rs371904071
|
0.00003
|
NM_001378454.1(ALMS1):c.820A>C (p.Ser274Arg)
|
rs761800808
|
0.00003
|
NM_001378454.1(ALMS1):c.8489G>A (p.Cys2830Tyr)
|
rs369720907
|
0.00003
|
NM_001378454.1(ALMS1):c.8729A>G (p.His2910Arg)
|
rs781370939
|
0.00003
|
NM_001378454.1(ALMS1):c.8890A>G (p.Ile2964Val)
|
rs529506570
|
0.00003
|
NM_001378454.1(ALMS1):c.9565C>T (p.Leu3189Phe)
|
rs376367125
|
0.00003
|
NM_001378454.1(ALMS1):c.*217T>C
|
rs1454681028
|
0.00002
|
NM_001378454.1(ALMS1):c.10020G>A (p.Arg3340=)
|
rs746166271
|
0.00002
|
NM_001378454.1(ALMS1):c.10261C>A (p.Pro3421Thr)
|
rs763306448
|
0.00002
|
NM_001378454.1(ALMS1):c.10427T>C (p.Val3476Ala)
|
rs750128969
|
0.00002
|
NM_001378454.1(ALMS1):c.10817G>A (p.Arg3606Gln)
|
rs148044176
|
0.00002
|
NM_001378454.1(ALMS1):c.1139T>C (p.Ile380Thr)
|
rs199872225
|
0.00002
|
NM_001378454.1(ALMS1):c.1153A>G (p.Ser385Gly)
|
rs761174114
|
0.00002
|
NM_001378454.1(ALMS1):c.11550A>G (p.Val3850=)
|
rs45630561
|
0.00002
|
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr)
|
rs45630562
|
0.00002
|
NM_001378454.1(ALMS1):c.12321C>T (p.Asn4107=)
|
rs767420244
|
0.00002
|
NM_001378454.1(ALMS1):c.12376C>T (p.Leu4126Phe)
|
rs746923966
|
0.00002
|
NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter)
|
rs192496253
|
0.00002
|
NM_001378454.1(ALMS1):c.12473A>G (p.Asn4158Ser)
|
rs752828644
|
0.00002
|
NM_001378454.1(ALMS1):c.1634C>T (p.Thr545Ile)
|
rs772068213
|
0.00002
|
NM_001378454.1(ALMS1):c.1651A>T (p.Thr551Ser)
|
rs1271418277
|
0.00002
|
NM_001378454.1(ALMS1):c.1731T>C (p.His577=)
|
rs768761501
|
0.00002
|
NM_001378454.1(ALMS1):c.176A>T (p.His59Leu)
|
rs772683919
|
0.00002
|
NM_001378454.1(ALMS1):c.1884T>C (p.Pro628=)
|
rs373831151
|
0.00002
|
NM_001378454.1(ALMS1):c.1968G>A (p.Glu656=)
|
rs1040684345
|
0.00002
|
NM_001378454.1(ALMS1):c.3493C>T (p.Pro1165Ser)
|
rs767103091
|
0.00002
|
NM_001378454.1(ALMS1):c.3591A>G (p.Lys1197=)
|
rs773852068
|
0.00002
|
NM_001378454.1(ALMS1):c.3881G>C (p.Ser1294Thr)
|
rs373835067
|
0.00002
|
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala)
|
rs760866713
|
0.00002
|
NM_001378454.1(ALMS1):c.4829T>C (p.Ile1610Thr)
|
rs757356524
|
0.00002
|
NM_001378454.1(ALMS1):c.5694T>A (p.Asn1898Lys)
|
rs1317035563
|
0.00002
|
NM_001378454.1(ALMS1):c.5860G>A (p.Glu1954Lys)
|
rs1313974028
|
0.00002
|
NM_001378454.1(ALMS1):c.6441A>G (p.Lys2147=)
|
rs776254949
|
0.00002
|
NM_001378454.1(ALMS1):c.6833A>G (p.Asn2278Ser)
|
rs767464740
|
0.00002
|
NM_001378454.1(ALMS1):c.7033C>T (p.Arg2345Trp)
|
rs776611154
|
0.00002
|
NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val)
|
rs370830919
|
0.00002
|
NM_001378454.1(ALMS1):c.7710A>C (p.Pro2570=)
|
rs750225944
|
0.00002
|
NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter)
|
rs193919340
|
0.00002
|
NM_001378454.1(ALMS1):c.8684G>A (p.Arg2895His)
|
rs755542969
|
0.00002
|
NM_001378454.1(ALMS1):c.8882C>T (p.Pro2961Leu)
|
rs781477502
|
0.00002
|
NM_001378454.1(ALMS1):c.9026A>G (p.Asn3009Ser)
|
rs757198941
|
0.00002
|
NM_001378454.1(ALMS1):c.9050A>G (p.Asn3017Ser)
|
rs768218725
|
0.00002
|
NM_001378454.1(ALMS1):c.9055G>A (p.Val3019Met)
|
rs773897748
|
0.00002
|
NM_001378454.1(ALMS1):c.9281C>T (p.Ser3094Leu)
|
rs368970124
|
0.00002
|
NM_001378454.1(ALMS1):c.10169C>T (p.Ala3390Val)
|
rs905527689
|
0.00001
|
NM_001378454.1(ALMS1):c.10264G>C (p.Glu3422Gln)
|
rs1003992652
|
0.00001
|
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly)
|
rs746702722
|
0.00001
|
NM_001378454.1(ALMS1):c.10420C>T (p.Arg3474Cys)
|
rs759337193
|
0.00001
|
NM_001378454.1(ALMS1):c.10625A>G (p.Tyr3542Cys)
|
rs761771973
|
0.00001
|
NM_001378454.1(ALMS1):c.10723G>A (p.Gly3575Arg)
|
rs752099349
|
0.00001
|
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter)
|
rs1192396248
|
0.00001
|
NM_001378454.1(ALMS1):c.10862A>G (p.Lys3621Arg)
|
rs1288339942
|
0.00001
|
NM_001378454.1(ALMS1):c.10883G>A (p.Arg3628Gln)
|
rs763549947
|
0.00001
|
NM_001378454.1(ALMS1):c.10973G>A (p.Arg3658Gln)
|
rs781344338
|
0.00001
|
NM_001378454.1(ALMS1):c.11073G>A (p.Glu3691=)
|
rs1421582809
|
0.00001
|
NM_001378454.1(ALMS1):c.11116T>A (p.Ser3706Thr)
|
rs749624694
|
0.00001
|
NM_001378454.1(ALMS1):c.11143A>G (p.Lys3715Glu)
|
rs765505349
|
0.00001
|
NM_001378454.1(ALMS1):c.11192G>A (p.Ser3731Asn)
|
rs756136080
|
0.00001
|
NM_001378454.1(ALMS1):c.11204C>T (p.Ser3735Leu)
|
rs367877017
|
0.00001
|
NM_001378454.1(ALMS1):c.1126A>T (p.Thr376Ser)
|
rs376750978
|
0.00001
|
NM_001378454.1(ALMS1):c.11362G>A (p.Ala3788Thr)
|
rs1674982899
|
0.00001
|
NM_001378454.1(ALMS1):c.11393G>A (p.Arg3798Lys)
|
rs1006564458
|
0.00001
|
NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter)
|
rs940576720
|
0.00001
|
NM_001378454.1(ALMS1):c.11467C>T (p.Arg3823Trp)
|
rs17848868
|
0.00001
|
NM_001378454.1(ALMS1):c.11477A>G (p.His3826Arg)
|
rs371105298
|
0.00001
|
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn)
|
rs767078704
|
0.00001
|
NM_001378454.1(ALMS1):c.11764A>G (p.Asn3922Asp)
|
rs45486496
|
0.00001
|
NM_001378454.1(ALMS1):c.11797C>T (p.Arg3933Cys)
|
rs1356118595
|
0.00001
|
NM_001378454.1(ALMS1):c.1197A>G (p.Thr399=)
|
rs756136557
|
0.00001
|
NM_001378454.1(ALMS1):c.12299-19C>T
|
rs1553422031
|
0.00001
|
NM_001378454.1(ALMS1):c.122T>C (p.Val41Ala)
|
rs1558624684
|
0.00001
|
NM_001378454.1(ALMS1):c.12425A>G (p.Tyr4142Cys)
|
rs775032572
|
0.00001
|
NM_001378454.1(ALMS1):c.12473A>T (p.Asn4158Ile)
|
rs752828644
|
0.00001
|
NM_001378454.1(ALMS1):c.136G>A (p.Val46Met)
|
rs1057524276
|
0.00001
|
NM_001378454.1(ALMS1):c.142G>A (p.Glu48Lys)
|
rs751415466
|
0.00001
|
NM_001378454.1(ALMS1):c.1521A>C (p.Gly507=)
|
rs760374410
|
0.00001
|
NM_001378454.1(ALMS1):c.1707A>G (p.Thr569=)
|
rs752130351
|
0.00001
|
NM_001378454.1(ALMS1):c.1866C>T (p.Tyr622=)
|
rs1474922476
|
0.00001
|
NM_001378454.1(ALMS1):c.1927G>A (p.Glu643Lys)
|
rs769734500
|
0.00001
|
NM_001378454.1(ALMS1):c.200G>A (p.Ser67Asn)
|
rs776932244
|
0.00001
|
NM_001378454.1(ALMS1):c.211G>A (p.Glu71Lys)
|
rs757131983
|
0.00001
|
NM_001378454.1(ALMS1):c.2182C>A (p.Gln728Lys)
|
rs1671859807
|
0.00001
|
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=)
|
rs572605877
|
0.00001
|
NM_001378454.1(ALMS1):c.21A>T (p.Pro7=)
|
rs373614102
|
0.00001
|
NM_001378454.1(ALMS1):c.2322C>T (p.Tyr774=)
|
rs752503817
|
0.00001
|
NM_001378454.1(ALMS1):c.2396A>G (p.Gln799Arg)
|
rs530083993
|
0.00001
|
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala)
|
rs772260271
|
0.00001
|
NM_001378454.1(ALMS1):c.266C>T (p.Pro89Leu)
|
rs989191437
|
0.00001
|
NM_001378454.1(ALMS1):c.3266C>G (p.Thr1089Arg)
|
rs556855697
|
0.00001
|
NM_001378454.1(ALMS1):c.3267A>G (p.Thr1089=)
|
rs773260160
|
0.00001
|
NM_001378454.1(ALMS1):c.367C>T (p.Gln123Ter)
|
rs1392057115
|
0.00001
|
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs)
|
rs1296683633
|
0.00001
|
NM_001378454.1(ALMS1):c.3914A>G (p.His1305Arg)
|
rs1394932968
|
0.00001
|
NM_001378454.1(ALMS1):c.3982A>G (p.Ile1328Val)
|
rs1045211044
|
0.00001
|
NM_001378454.1(ALMS1):c.400A>G (p.Asn134Asp)
|
rs780314593
|
0.00001
|
NM_001378454.1(ALMS1):c.430C>T (p.Arg144Trp)
|
rs748293128
|
0.00001
|
NM_001378454.1(ALMS1):c.4370T>C (p.Val1457Ala)
|
rs1671922685
|
0.00001
|
NM_001378454.1(ALMS1):c.4450G>A (p.Val1484Ile)
|
rs779113815
|
0.00001
|
NM_001378454.1(ALMS1):c.4691C>G (p.Pro1564Arg)
|
rs773841585
|
0.00001
|
NM_001378454.1(ALMS1):c.4788A>C (p.Lys1596Asn)
|
rs925686650
|
0.00001
|
NM_001378454.1(ALMS1):c.4888C>T (p.Gln1630Ter)
|
rs974309886
|
0.00001
|
NM_001378454.1(ALMS1):c.4942C>A (p.Pro1648Thr)
|
rs754804407
|
0.00001
|
NM_001378454.1(ALMS1):c.4976C>A (p.Pro1659Gln)
|
rs199520788
|
0.00001
|
NM_001378454.1(ALMS1):c.4985C>G (p.Ser1662Cys)
|
rs776002916
|
0.00001
|
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)
|
rs772136379
|
0.00001
|
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala)
|
rs546111188
|
0.00001
|
NM_001378454.1(ALMS1):c.5484G>T (p.Leu1828Phe)
|
rs376996058
|
0.00001
|
NM_001378454.1(ALMS1):c.5608G>A (p.Glu1870Lys)
|
rs372714431
|
0.00001
|
NM_001378454.1(ALMS1):c.5683T>A (p.Ser1895Thr)
|
rs1288519568
|
0.00001
|
NM_001378454.1(ALMS1):c.5767G>C (p.Val1923Leu)
|
rs772665115
|
0.00001
|
NM_001378454.1(ALMS1):c.5891C>A (p.Ala1964Asp)
|
rs1196949061
|
0.00001
|
NM_001378454.1(ALMS1):c.591A>G (p.Gln197=)
|
rs373438786
|
0.00001
|
NM_001378454.1(ALMS1):c.6017A>G (p.Asp2006Gly)
|
rs1209226433
|
0.00001
|
NM_001378454.1(ALMS1):c.6121C>G (p.Gln2041Glu)
|
rs780824087
|
0.00001
|
NM_001378454.1(ALMS1):c.6166A>G (p.Ile2056Val)
|
rs747108462
|
0.00001
|
NM_001378454.1(ALMS1):c.6190G>A (p.Asp2064Asn)
|
rs183773481
|
0.00001
|
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter)
|
rs771994237
|
0.00001
|
NM_001378454.1(ALMS1):c.6350A>G (p.Asp2117Gly)
|
rs1671977745
|
0.00001
|
NM_001378454.1(ALMS1):c.6415C>T (p.Pro2139Ser)
|
rs772858451
|
0.00001
|
NM_001378454.1(ALMS1):c.6496C>G (p.Leu2166Val)
|
rs1200119538
|
0.00001
|
NM_001378454.1(ALMS1):c.6506C>T (p.Ser2169Leu)
|
rs368833782
|
0.00001
|
NM_001378454.1(ALMS1):c.6639C>G (p.Asp2213Glu)
|
rs769322538
|
0.00001
|
NM_001378454.1(ALMS1):c.6790A>G (p.Thr2264Ala)
|
rs772620985
|
0.00001
|
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln)
|
rs200979896
|
0.00001
|
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter)
|
rs761713440
|
0.00001
|
NM_001378454.1(ALMS1):c.7091A>C (p.Gln2364Pro)
|
rs370992564
|
0.00001
|
NM_001378454.1(ALMS1):c.7376G>C (p.Ser2459Thr)
|
rs778055498
|
0.00001
|
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter)
|
rs1198051503
|
0.00001
|
NM_001378454.1(ALMS1):c.739A>G (p.Ser247Gly)
|
rs1055600080
|
0.00001
|
NM_001378454.1(ALMS1):c.7526G>A (p.Arg2509Gln)
|
rs551433143
|
0.00001
|
NM_001378454.1(ALMS1):c.7697T>C (p.Met2566Thr)
|
rs373385088
|
0.00001
|
NM_001378454.1(ALMS1):c.7743C>T (p.Ser2581=)
|
rs370740871
|
0.00001
|
NM_001378454.1(ALMS1):c.776A>G (p.Asp259Gly)
|
rs369122370
|
0.00001
|
NM_001378454.1(ALMS1):c.7788A>C (p.Gln2596His)
|
rs752127434
|
0.00001
|
NM_001378454.1(ALMS1):c.7840A>G (p.Arg2614Gly)
|
rs769890820
|
0.00001
|
NM_001378454.1(ALMS1):c.7926T>C (p.Val2642=)
|
rs749406009
|
0.00001
|
NM_001378454.1(ALMS1):c.8096C>T (p.Ser2699Leu)
|
rs769405720
|
0.00001
|
NM_001378454.1(ALMS1):c.8111C>T (p.Ser2704Phe)
|
rs761272792
|
0.00001
|
NM_001378454.1(ALMS1):c.8138C>T (p.Thr2713Ile)
|
rs1672944551
|
0.00001
|
NM_001378454.1(ALMS1):c.8421A>G (p.Gln2807=)
|
rs774574310
|
0.00001
|
NM_001378454.1(ALMS1):c.8483C>A (p.Ala2828Glu)
|
rs751296181
|
0.00001
|
NM_001378454.1(ALMS1):c.8673C>A (p.Ser2891Arg)
|
rs755823751
|
0.00001
|
NM_001378454.1(ALMS1):c.8688A>G (p.Ala2896=)
|
rs1338132238
|
0.00001
|
NM_001378454.1(ALMS1):c.873T>G (p.Ser291Arg)
|
rs747529881
|
0.00001
|
NM_001378454.1(ALMS1):c.9138T>C (p.Cys3046=)
|
rs779818117
|
0.00001
|
NM_001378454.1(ALMS1):c.9318T>G (p.Pro3106=)
|
rs771679163
|
0.00001
|
NM_001378454.1(ALMS1):c.9461C>G (p.Thr3154Ser)
|
rs1377763374
|
0.00001
|
NM_001378454.1(ALMS1):c.9509A>G (p.Asn3170Ser)
|
rs1396386580
|
0.00001
|
NM_001378454.1(ALMS1):c.9637C>G (p.Leu3213Val)
|
rs575305602
|
0.00001
|
NM_001378454.1(ALMS1):c.9639A>G (p.Leu3213=)
|
rs566943393
|
0.00001
|
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe)
|
rs771768835
|
0.00001
|
NM_001378454.1(ALMS1):c.9674G>A (p.Arg3225His)
|
rs765685958
|
0.00001
|
NM_001378454.1(ALMS1):c.9693G>A (p.Glu3231=)
|
rs764518519
|
0.00001
|
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=)
|
rs370267673
|
0.00001
|
NM_001378454.1(ALMS1):c.9760A>C (p.Thr3254Pro)
|
rs1553412796
|
0.00001
|
NM_001378454.1(ALMS1):c.9781+19A>G
|
rs895296631
|
0.00001
|
NM_001378454.1(ALMS1):c.9867G>A (p.Pro3289=)
|
rs773900415
|
0.00001
|
NM_001378454.1(ALMS1):c.9897C>T (p.Ser3299=)
|
rs1217540541
|
0.00001
|
NC_000002.12:g.73385706G>C
|
rs191543152
|
|
NM_001378454.1(ALMS1):c.*224C>T
|
rs1370220840
|
|
NM_001378454.1(ALMS1):c.1003G>T (p.Asp335Tyr)
|
rs779002116
|
|
NM_001378454.1(ALMS1):c.10061T>C (p.Leu3354Ser)
|
rs2104035328
|
|
NM_001378454.1(ALMS1):c.10146dup (p.Ser3383fs)
|
rs1553416872
|
|
NM_001378454.1(ALMS1):c.10213+12G>A
|
rs527508238
|
|
NM_001378454.1(ALMS1):c.10213+292C>T
|
rs17848867
|
|
NM_001378454.1(ALMS1):c.10213+7A>G
|
rs1553416882
|
|
NM_001378454.1(ALMS1):c.10214-12dup
|
rs543855806
|
|
NM_001378454.1(ALMS1):c.10214-198_10214-195del
|
rs148168149
|
|
NM_001378454.1(ALMS1):c.10223C>T (p.Ala3408Val)
|
|
|
NM_001378454.1(ALMS1):c.10226C>G (p.Ala3409Gly)
|
|
|
NM_001378454.1(ALMS1):c.10284C>G (p.Asp3428Glu)
|
rs2104063874
|
|
NM_001378454.1(ALMS1):c.1034A>G (p.Tyr345Cys)
|
|
|
NM_001378454.1(ALMS1):c.10384+173TA[8]
|
rs10684777
|
|
NM_001378454.1(ALMS1):c.10385-239C>A
|
rs6725385
|
|
NM_001378454.1(ALMS1):c.10421G>A (p.Arg3474His)
|
|
|
NM_001378454.1(ALMS1):c.10454A>G (p.His3485Arg)
|
rs2104103721
|
|
NM_001378454.1(ALMS1):c.10462G>C (p.Val3488Leu)
|
rs1057523167
|
|
NM_001378454.1(ALMS1):c.10552C>T (p.His3518Tyr)
|
rs2104104161
|
|
NM_001378454.1(ALMS1):c.10652A>G (p.Asn3551Ser)
|
rs868744829
|
|
NM_001378454.1(ALMS1):c.10709A>G (p.Tyr3570Cys)
|
rs2104104820
|
|
NM_001378454.1(ALMS1):c.10735G>C (p.Asp3579His)
|
rs1450650278
|
|
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter)
|
rs1473611414
|
|
NM_001378454.1(ALMS1):c.1092del (p.Asp365fs)
|
rs1572914641
|
|
NM_001378454.1(ALMS1):c.10958A>G (p.Asp3653Gly)
|
|
|
NM_001378454.1(ALMS1):c.11117C>G (p.Ser3706Cys)
|
rs533965968
|
|
NM_001378454.1(ALMS1):c.11140A>G (p.Ile3714Val)
|
rs370536187
|
|
NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter)
|
rs367877017
|
|
NM_001378454.1(ALMS1):c.11254A>C (p.Asn3752His)
|
rs777251736
|
|
NM_001378454.1(ALMS1):c.11308_11309del (p.Thr3769_Asp3770insTer)
|
rs1553418578
|
|
NM_001378454.1(ALMS1):c.11309A>G (p.Asp3770Gly)
|
rs770147613
|
|
NM_001378454.1(ALMS1):c.11323C>T (p.Leu3775=)
|
rs771595125
|
|
NM_001378454.1(ALMS1):c.11324T>A (p.Leu3775Gln)
|
|
|
NM_001378454.1(ALMS1):c.11394_11395del (p.Arg3798fs)
|
rs1553418598
|
|
NM_001378454.1(ALMS1):c.11455T>A (p.Tyr3819Asn)
|
rs761539239
|
|
NM_001378454.1(ALMS1):c.11481C>G (p.Ser3827Arg)
|
rs549156484
|
|
NM_001378454.1(ALMS1):c.1174C>A (p.Arg392Ser)
|
rs3813227
|
|
NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys)
|
rs3813227
|
|
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs)
|
rs1247974278
|
|
NM_001378454.1(ALMS1):c.11798G>T (p.Arg3933Leu)
|
rs45576434
|
|
NM_001378454.1(ALMS1):c.11827C>G (p.Pro3943Ala)
|
|
|
NM_001378454.1(ALMS1):c.1212dup (p.Lys405Ter)
|
rs1553400785
|
|
NM_001378454.1(ALMS1):c.12362+162dup
|
rs59142434
|
|
NM_001378454.1(ALMS1):c.12362+16_12362+17del
|
rs563514664
|
|
NM_001378454.1(ALMS1):c.12362+16_12362+27delinsTGAGTTTGTG
|
rs1064795877
|
|
NM_001378454.1(ALMS1):c.12362+16_12362+29delinsTGAGTTTGTGTG
|
rs1064795814
|
|
NM_001378454.1(ALMS1):c.12362+17_12362+27delinsGAGTTTGTG
|
rs1064796118
|
|
NM_001378454.1(ALMS1):c.1237+2T>C
|
rs916056435
|
|
NM_001378454.1(ALMS1):c.123_124delinsCA (p.Val42Ile)
|
rs1670514979
|
|
NM_001378454.1(ALMS1):c.1245G>T (p.Leu415=)
|
rs1553400953
|
|
NM_001378454.1(ALMS1):c.12478C>A (p.Leu4160Ile)
|
|
|
NM_001378454.1(ALMS1):c.1247A>G (p.Gln416Arg)
|
rs777072028
|
|
NM_001378454.1(ALMS1):c.132G>T (p.Glu44Asp)
|
|
|
NM_001378454.1(ALMS1):c.1343C>G (p.Thr448Arg)
|
rs774335945
|
|
NM_001378454.1(ALMS1):c.1352C>T (p.Ser451Leu)
|
|
|
NM_001378454.1(ALMS1):c.1399A>T (p.Thr467Ser)
|
|
|
NM_001378454.1(ALMS1):c.1432+2_1432+15del
|
rs1203193062
|
|
NM_001378454.1(ALMS1):c.1433-12_1433-10dup
|
rs1064795386
|
|
NM_001378454.1(ALMS1):c.1433-12delinsTCTT
|
rs2103770960
|
|
NM_001378454.1(ALMS1):c.1433-9_1433-8insCTT
|
rs1064795791
|
|
NM_001378454.1(ALMS1):c.1571CTC[1] (p.Pro525del)
|
rs34628045
|
|
NM_001378454.1(ALMS1):c.1588A>C (p.Thr530Pro)
|
|
|
NM_001378454.1(ALMS1):c.1642del (p.Thr548fs)
|
|
|
NM_001378454.1(ALMS1):c.165C>G (p.Asp55Glu)
|
rs779615407
|
|
NM_001378454.1(ALMS1):c.1660G>C (p.Val554Leu)
|
rs1558647450
|
|
NM_001378454.1(ALMS1):c.1724_1725delinsCTAGT (p.His575delinsProSer)
|
rs1064795650
|
|
NM_001378454.1(ALMS1):c.1778A>G (p.His593Arg)
|
rs2103772175
|
|
NM_001378454.1(ALMS1):c.179A>G (p.Tyr60Cys)
|
|
|
NM_001378454.1(ALMS1):c.1874_1876delinsAAA (p.Arg625_Glu626delinsLysLys)
|
rs2103772611
|
|
NM_001378454.1(ALMS1):c.1974G>A (p.Lys658=)
|
rs1572931765
|
|
NM_001378454.1(ALMS1):c.2005C>A (p.His669Asn)
|
|
|
NM_001378454.1(ALMS1):c.2015_2016delinsGT (p.Val672Gly)
|
|
|
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly)
|
rs115444326
|
|
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter)
|
rs115444326
|
|
NM_001378454.1(ALMS1):c.2094G>A (p.Val698=)
|
rs200535382
|
|
NM_001378454.1(ALMS1):c.209ACGAGGAGG[1] (p.70DEE[1])
|
rs772848105
|
|
NM_001378454.1(ALMS1):c.2138_2139del (p.Ser713fs)
|
rs387906313
|
|
NM_001378454.1(ALMS1):c.2140A>G (p.Thr714Ala)
|
rs2103773812
|
|
NM_001378454.1(ALMS1):c.2237C>T (p.Thr746Ile)
|
|
|
NM_001378454.1(ALMS1):c.2416G>C (p.Val806Leu)
|
rs138921247
|
|
NM_001378454.1(ALMS1):c.2436A>G (p.Ser812=)
|
rs925267503
|
|
NM_001378454.1(ALMS1):c.2450T>C (p.Leu817Pro)
|
|
|
NM_001378454.1(ALMS1):c.2471C>A (p.Ala824Asp)
|
rs754424459
|
|
NM_001378454.1(ALMS1):c.251C>G (p.Pro84Arg)
|
|
|
NM_001378454.1(ALMS1):c.2535C>G (p.Asp845Glu)
|
rs77517267
|
|
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=)
|
rs77517267
|
|
NM_001378454.1(ALMS1):c.2617C>T (p.Gln873Ter)
|
rs1572932845
|
|
NM_001378454.1(ALMS1):c.2642C>T (p.Thr881Ile)
|
|
|
NM_001378454.1(ALMS1):c.2678C>T (p.Pro893Leu)
|
rs1671874349
|
|
NM_001378454.1(ALMS1):c.2726C>G (p.Ser909Ter)
|
rs746640196
|
|
NM_001378454.1(ALMS1):c.2848G>T (p.Val950Leu)
|
rs370733145
|
|
NM_001378454.1(ALMS1):c.3013_3014del (p.Ser1004_His1005insTer)
|
rs1572933385
|
|
NM_001378454.1(ALMS1):c.3047A>C (p.Glu1016Ala)
|
rs1085307601
|
|
NM_001378454.1(ALMS1):c.3275T>C (p.Val1092Ala)
|
|
|
NM_001378454.1(ALMS1):c.338C>T (p.Thr113Ile)
|
rs1417754706
|
|
NM_001378454.1(ALMS1):c.3413C>T (p.Thr1138Ile)
|
rs1671892972
|
|
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile)
|
rs752342634
|
|
NM_001378454.1(ALMS1):c.3574T>G (p.Tyr1192Asp)
|
rs1553403697
|
|
NM_001378454.1(ALMS1):c.3690G>A (p.Gly1230=)
|
rs1057523614
|
|
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[18] (p.Glu24_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[4] (p.Glu20_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[5] (p.Glu21_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[7] (p.Glu23_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[8] (p.Glu24_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36_74= (p.Leu12_Glu25=)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.3740T>C (p.Ile1247Thr)
|
|
|
NM_001378454.1(ALMS1):c.3799G>T (p.Val1267Phe)
|
|
|
NM_001378454.1(ALMS1):c.3899C>A (p.Ser1300Ter)
|
rs769219669
|
|
NM_001378454.1(ALMS1):c.38_39insAGA (p.Glu28dup)
|
rs1553396124
|
|
NM_001378454.1(ALMS1):c.3911G>A (p.Ser1304Asn)
|
|
|
NM_001378454.1(ALMS1):c.3980C>T (p.Pro1327Leu)
|
rs764135588
|
|
NM_001378454.1(ALMS1):c.4002C>G (p.Tyr1334Ter)
|
rs2103780942
|
|
NM_001378454.1(ALMS1):c.4150C>A (p.His1384Asn)
|
rs1228297685
|
|
NM_001378454.1(ALMS1):c.4184C>T (p.Ser1395Leu)
|
|
|
NM_001378454.1(ALMS1):c.4185G>A (p.Ser1395=)
|
rs758814503
|
|
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs)
|
rs1553403851
|
|
NM_001378454.1(ALMS1):c.4547C>T (p.Pro1516Leu)
|
|
|
NM_001378454.1(ALMS1):c.4574A>C (p.Gln1525Pro)
|
|
|
NM_001378454.1(ALMS1):c.4626A>C (p.Gln1542His)
|
rs201603580
|
|
NM_001378454.1(ALMS1):c.46G>A (p.Glu16Lys)
|
rs1174023229
|
|
NM_001378454.1(ALMS1):c.4715C>G (p.Ser1572Ter)
|
rs2103783763
|
|
NM_001378454.1(ALMS1):c.4729C>T (p.Pro1577Ser)
|
|
|
NM_001378454.1(ALMS1):c.4824_4826del (p.Asp1609del)
|
rs1057518311
|
|
NM_001378454.1(ALMS1):c.4916A>C (p.Lys1639Thr)
|
|
|
NM_001378454.1(ALMS1):c.4945G>A (p.Gly1649Arg)
|
|
|
NM_001378454.1(ALMS1):c.4978G>C (p.Val1660Leu)
|
rs2103784697
|
|
NM_001378454.1(ALMS1):c.4989T>C (p.Thr1663=)
|
rs774538998
|
|
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs)
|
rs1572936092
|
|
NM_001378454.1(ALMS1):c.5006G>T (p.Gly1669Val)
|
rs267599447
|
|
NM_001378454.1(ALMS1):c.5059_5061delinsAAG (p.Glu1687Lys)
|
rs2103784975
|
|
NM_001378454.1(ALMS1):c.5099AGA[1] (p.Lys1701del)
|
|
|
NM_001378454.1(ALMS1):c.5103G>C (p.Lys1701Asn)
|
rs2103785098
|
|
NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs)
|
rs748709116
|
|
NM_001378454.1(ALMS1):c.517_521dup (p.Phe175fs)
|
rs1553399962
|
|
NM_001378454.1(ALMS1):c.5195C>T (p.Thr1732Ile)
|
rs2103785499
|
|
NM_001378454.1(ALMS1):c.5197C>T (p.Gln1733Ter)
|
rs750136202
|
|
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu)
|
rs962844498
|
|
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile)
|
rs1131691296
|
|
NM_001378454.1(ALMS1):c.539A>T (p.Glu180Val)
|
|
|
NM_001378454.1(ALMS1):c.5453G>A (p.Arg1818Gln)
|
rs200925575
|
|
NM_001378454.1(ALMS1):c.54_60delinsA (p.Glu27_Glu28del)
|
|
|
NM_001378454.1(ALMS1):c.55G>A (p.Glu19Lys)
|
rs939208094
|
|
NM_001378454.1(ALMS1):c.5634T>C (p.Val1878=)
|
rs1057524275
|
|
NM_001378454.1(ALMS1):c.5665C>G (p.Gln1889Glu)
|
rs2103787285
|
|
NM_001378454.1(ALMS1):c.5796G>T (p.Glu1932Asp)
|
|
|
NM_001378454.1(ALMS1):c.5827C>A (p.Arg1943Ser)
|
rs370398704
|
|
NM_001378454.1(ALMS1):c.5828G>A (p.Arg1943His)
|
rs146669152
|
|
NM_001378454.1(ALMS1):c.5828G>T (p.Arg1943Leu)
|
rs146669152
|
|
NM_001378454.1(ALMS1):c.615C>G (p.Pro205=)
|
rs2103701886
|
|
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter)
|
rs28730854
|
|
NM_001378454.1(ALMS1):c.6302C>G (p.Ser2101Trp)
|
rs28730854
|
|
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu)
|
rs28730854
|
|
NM_001378454.1(ALMS1):c.6319C>T (p.Gln2107Ter)
|
|
|
NM_001378454.1(ALMS1):c.63G>A (p.Glu21=)
|
rs1004961829
|
|
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter)
|
rs770558150
|
|
NM_001378454.1(ALMS1):c.6524C>T (p.Ala2175Val)
|
rs549259627
|
|
NM_001378454.1(ALMS1):c.659G>A (p.Ser220Asn)
|
rs2103710395
|
|
NM_001378454.1(ALMS1):c.65_66insAGA (p.Glu28dup)
|
rs1553396148
|
|
NM_001378454.1(ALMS1):c.65_66insAGAGGAGGA (p.Glu26_Glu28dup)
|
rs2104057305
|
|
NM_001378454.1(ALMS1):c.6612G>C (p.Arg2204Ser)
|
rs758379924
|
|
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs)
|
rs1553404310
|
|
NM_001378454.1(ALMS1):c.6824A>G (p.Lys2275Arg)
|
rs1057518307
|
|
NM_001378454.1(ALMS1):c.686T>C (p.Leu229Pro)
|
|
|
NM_001378454.1(ALMS1):c.6899T>C (p.Val2300Ala)
|
rs1057523384
|
|
NM_001378454.1(ALMS1):c.7013C>A (p.Thr2338Lys)
|
rs373004988
|
|
NM_001378454.1(ALMS1):c.7129dup (p.Thr2377fs)
|
|
|
NM_001378454.1(ALMS1):c.7288A>G (p.Ser2430Gly)
|
rs539112266
|
|
NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer)
|
rs1225343345
|
|
NM_001378454.1(ALMS1):c.7377C>T (p.Ser2459=)
|
rs867561704
|
|
NM_001378454.1(ALMS1):c.7492G>A (p.Glu2498Lys)
|
rs1057524023
|
|
NM_001378454.1(ALMS1):c.7507G>T (p.Ala2503Ser)
|
rs202060439
|
|
NM_001378454.1(ALMS1):c.7603G>A (p.Asp2535Asn)
|
|
|
NM_001378454.1(ALMS1):c.764+17G>T
|
rs1057524596
|
|
NM_001378454.1(ALMS1):c.764+18C>T
|
rs1553400459
|
|
NM_001378454.1(ALMS1):c.765-36TTAT[3]
|
rs532044714
|
|
NM_001378454.1(ALMS1):c.7675-144C>G
|
rs2056750
|
|
NM_001378454.1(ALMS1):c.7676G>A (p.Gly2559Asp)
|
rs1248528012
|
|
NM_001378454.1(ALMS1):c.7684A>G (p.Ser2562Gly)
|
|
|
NM_001378454.1(ALMS1):c.7756T>A (p.Cys2586Ser)
|
rs1485228491
|
|
NM_001378454.1(ALMS1):c.7870G>A (p.Ala2624Thr)
|
|
|
NM_001378454.1(ALMS1):c.797G>A (p.Trp266Ter)
|
rs1558639105
|
|
NM_001378454.1(ALMS1):c.8057C>T (p.Pro2686Leu)
|
rs1269143077
|
|
NM_001378454.1(ALMS1):c.8079A>G (p.Glu2693=)
|
|
|
NM_001378454.1(ALMS1):c.8117_8118delinsG (p.Glu2706fs)
|
rs1182262187
|
|
NM_001378454.1(ALMS1):c.8126A>G (p.Lys2709Arg)
|
rs761242664
|
|
NM_001378454.1(ALMS1):c.8174_8184del (p.Cys2725fs)
|
rs2103890894
|
|
NM_001378454.1(ALMS1):c.8211T>C (p.Thr2737=)
|
rs759935089
|
|
NM_001378454.1(ALMS1):c.8224T>G (p.Cys2742Gly)
|
rs774945791
|
|
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala)
|
rs369650940
|
|
NM_001378454.1(ALMS1):c.8299A>G (p.Lys2767Glu)
|
|
|
NM_001378454.1(ALMS1):c.82G>A (p.Glu28Lys)
|
rs1670512542
|
|
NM_001378454.1(ALMS1):c.8306C>T (p.Ser2769Phe)
|
rs1060500037
|
|
NM_001378454.1(ALMS1):c.8339C>T (p.Ser2780Leu)
|
|
|
NM_001378454.1(ALMS1):c.8512A>G (p.Ile2838Val)
|
|
|
NM_001378454.1(ALMS1):c.8533A>G (p.Ile2845Val)
|
rs1057524748
|
|
NM_001378454.1(ALMS1):c.8593G>A (p.Val2865Ile)
|
rs780429128
|
|
NM_001378454.1(ALMS1):c.8672G>A (p.Ser2891Asn)
|
rs756101133
|
|
NM_001378454.1(ALMS1):c.872G>T (p.Ser291Ile)
|
rs568470985
|
|
NM_001378454.1(ALMS1):c.8763C>A (p.Cys2921Ter)
|
rs765908556
|
|
NM_001378454.1(ALMS1):c.8809T>G (p.Tyr2937Asp)
|
rs2103893348
|
|
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg)
|
rs574785830
|
|
NM_001378454.1(ALMS1):c.886T>G (p.Ser296Ala)
|
|
|
NM_001378454.1(ALMS1):c.8980G>A (p.Val2994Ile)
|
rs45566838
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NM_001378454.1(ALMS1):c.9004A>C (p.Lys3002Gln)
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NM_001378454.1(ALMS1):c.9170_9190dup (p.Ser3057_Thr3063dup)
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rs1455775922
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NM_001378454.1(ALMS1):c.91GCG[3] (p.Ala34_Ala35del)
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rs746896173
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NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup)
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rs746896173
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NM_001378454.1(ALMS1):c.925C>T (p.Gln309Ter)
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rs1558639213
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NM_001378454.1(ALMS1):c.9304T>C (p.Leu3102=)
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rs537370242
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NM_001378454.1(ALMS1):c.9377A>G (p.Gln3126Arg)
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rs1553409872
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NM_001378454.1(ALMS1):c.94G>A (p.Ala32Thr)
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NM_001378454.1(ALMS1):c.9511C>G (p.Pro3171Ala)
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NM_001378454.1(ALMS1):c.9540-234A>T
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rs114800454
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NM_001378454.1(ALMS1):c.9578C>T (p.Ser3193Phe)
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NM_001378454.1(ALMS1):c.9607C>G (p.Gln3203Glu)
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rs956247442
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NM_001378454.1(ALMS1):c.9614C>G (p.Thr3205Arg)
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NM_001378454.1(ALMS1):c.9633G>T (p.Lys3211Asn)
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rs373013570
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NM_001378454.1(ALMS1):c.9715A>G (p.Lys3239Glu)
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rs2103962480
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NM_001378454.1(ALMS1):c.9767C>G (p.Ser3256Cys)
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rs200922218
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NM_001378454.1(ALMS1):c.9782G>A (p.Gly3261Asp)
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rs2103991983
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NM_001378454.1(ALMS1):c.9856C>G (p.Pro3286Ala)
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rs762224373
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NM_001378454.1(ALMS1):c.9875A>C (p.Lys3292Thr)
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rs959966297
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NM_001378454.1(ALMS1):c.9946G>A (p.Val3316Met)
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NM_001378454.1(ALMS1):c.9956C>T (p.Thr3319Ile)
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rs2104034941
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NM_015120.4(ALMS1):c.-39CTC[6]
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rs746980000
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NM_015120.4(ALMS1):c.-41_-39dup
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rs764473588
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NM_015120.4(ALMS1):c.-45C>G
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rs539250179
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NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla)
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rs746896173
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