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.4179A>G (p.Gln1393=)
|
rs6546836
|
0.38173
|
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro)
|
rs6546839
|
0.38002
|
NM_001378454.1(ALMS1):c.9561C>T (p.Thr3187=)
|
rs11884776
|
0.30410
|
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.3894A>G (p.Gln1298=)
|
rs112034360
|
0.06109
|
NM_001378454.1(ALMS1):c.9782-9C>T
|
rs10199680
|
0.03656
|
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn)
|
rs11896293
|
0.02293
|
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.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.1144A>G (p.Thr382Ala)
|
rs28730849
|
0.01527
|
NM_001378454.1(ALMS1):c.1899A>G (p.Gln633=)
|
rs116033693
|
0.01292
|
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.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.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.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.1453A>G (p.Ile485Val)
|
rs73945001
|
0.00195
|
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.*105A>G
|
rs553541249
|
0.00150
|
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.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.8546G>A (p.Arg2849Lys)
|
rs200009686
|
0.00093
|
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.8942A>G (p.Asn2981Ser)
|
rs200390821
|
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.1338+19A>G
|
rs145633676
|
0.00031
|
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.8765T>C (p.Ile2922Thr)
|
rs201738475
|
0.00024
|
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=)
|
rs371329585
|
0.00023
|
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.57_58del (p.Glu20fs)
|
rs767882166
|
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.12362+17_12362+18del
|
rs768207589
|
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.*209A>G
|
rs573978557
|
0.00019
|
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.3295C>A (p.Gln1099Lys)
|
rs764823951
|
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.8416T>G (p.Phe2806Val)
|
rs763332859
|
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.649A>G (p.Ile217Val)
|
rs200944504
|
0.00018
|
NM_001378454.1(ALMS1):c.74_75insGG (p.Glu27fs)
|
rs1553396120
|
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.9741A>G (p.Ser3247=)
|
rs370844317
|
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.3945G>A (p.Ala1315=)
|
rs201474138
|
0.00015
|
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys)
|
rs200293447
|
0.00015
|
NM_001378454.1(ALMS1):c.6145T>A (p.Ser2049Thr)
|
rs17848882
|
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.10533G>T (p.Trp3511Cys)
|
rs761712682
|
0.00014
|
NM_001378454.1(ALMS1):c.331C>G (p.Pro111Ala)
|
rs368354870
|
0.00014
|
NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg)
|
rs371516347
|
0.00014
|
NM_001378454.1(ALMS1):c.4259G>T (p.Gly1420Val)
|
rs1445492577
|
0.00014
|
NM_001378454.1(ALMS1):c.5117C>T (p.Ser1706Leu)
|
rs1187000436
|
0.00014
|
NM_001378454.1(ALMS1):c.5466T>A (p.His1822Gln)
|
rs201677365
|
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.646+15T>G
|
rs200821435
|
0.00013
|
NM_001378454.1(ALMS1):c.6816G>A (p.Met2272Ile)
|
rs765233946
|
0.00013
|
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His)
|
rs200441305
|
0.00013
|
NM_015120.4(ALMS1):c.-64C>T
|
rs886056293
|
0.00013
|
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr)
|
rs368957150
|
0.00012
|
NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser)
|
rs187887110
|
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.450+20C>T
|
rs201559095
|
0.00012
|
NM_001378454.1(ALMS1):c.-16A>G
|
rs746944958
|
0.00011
|
NM_001378454.1(ALMS1):c.109G>C (p.Val37Leu)
|
rs774784126
|
0.00011
|
NM_001378454.1(ALMS1):c.1701A>G (p.Thr567=)
|
rs184736482
|
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.3936T>C (p.Asn1312=)
|
rs774630940
|
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.5990A>G (p.Lys1997Arg)
|
rs150331660
|
0.00011
|
NM_001378454.1(ALMS1):c.8530C>T (p.Leu2844Phe)
|
rs920714816
|
0.00011
|
NM_001378454.1(ALMS1):c.9359A>C (p.Lys3120Thr)
|
rs375038066
|
0.00011
|
NM_001378454.1(ALMS1):c.11033G>A (p.Arg3678Gln)
|
rs371007945
|
0.00010
|
NM_001378454.1(ALMS1):c.1433-3T>C
|
rs367710998
|
0.00010
|
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.5849T>C (p.Ile1950Thr)
|
rs773754661
|
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.1061C>T (p.Thr354Ile)
|
rs370726988
|
0.00009
|
NM_001378454.1(ALMS1):c.10866A>G (p.Glu3622=)
|
rs377601961
|
0.00009
|
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile)
|
rs549757247
|
0.00009
|
NM_001378454.1(ALMS1):c.11867A>G (p.His3956Arg)
|
rs553786370
|
0.00009
|
NM_001378454.1(ALMS1):c.3395A>G (p.Gln1132Arg)
|
rs202114540
|
0.00009
|
NM_001378454.1(ALMS1):c.3477G>T (p.Leu1159Phe)
|
rs575644902
|
0.00009
|
NM_001378454.1(ALMS1):c.3892C>A (p.Gln1298Lys)
|
rs770645262
|
0.00009
|
NM_001378454.1(ALMS1):c.4068G>C (p.Glu1356Asp)
|
rs376812264
|
0.00009
|
NM_001378454.1(ALMS1):c.4199A>G (p.His1400Arg)
|
rs371101065
|
0.00009
|
NM_001378454.1(ALMS1):c.4948C>T (p.Pro1650Ser)
|
rs765233016
|
0.00009
|
NM_001378454.1(ALMS1):c.568C>A (p.Leu190Met)
|
rs375838474
|
0.00009
|
NM_001378454.1(ALMS1):c.5982G>A (p.Glu1994=)
|
rs186849322
|
0.00009
|
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=)
|
rs1052804740
|
0.00009
|
NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu)
|
rs914898490
|
0.00009
|
NM_001378454.1(ALMS1):c.9908-13C>T
|
rs373325114
|
0.00009
|
NM_001378454.1(ALMS1):c.7140A>G (p.Gln2380=)
|
rs375593700
|
0.00008
|
NM_001378454.1(ALMS1):c.8349A>G (p.Lys2783=)
|
rs543502603
|
0.00008
|
NM_001378454.1(ALMS1):c.8357C>G (p.Thr2786Ser)
|
rs565373304
|
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.1339-3A>C
|
rs572922738
|
0.00007
|
NM_001378454.1(ALMS1):c.1516A>T (p.Ile506Phe)
|
rs555552377
|
0.00007
|
NM_001378454.1(ALMS1):c.2493C>T (p.Pro831=)
|
rs561060460
|
0.00007
|
NM_001378454.1(ALMS1):c.3965A>G (p.Gln1322Arg)
|
rs1251705223
|
0.00007
|
NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly)
|
rs868269804
|
0.00007
|
NM_001378454.1(ALMS1):c.6615A>T (p.Leu2205=)
|
rs375011895
|
0.00007
|
NM_001378454.1(ALMS1):c.6840T>G (p.Pro2280=)
|
rs45580837
|
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.9449G>A (p.Ser3150Asn)
|
rs34029285
|
0.00007
|
NM_001378454.1(ALMS1):c.974C>T (p.Ser325Leu)
|
rs376632767
|
0.00007
|
NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp)
|
rs573748379
|
0.00006
|
NM_001378454.1(ALMS1):c.10494T>C (p.His3498=)
|
rs769856570
|
0.00006
|
NM_001378454.1(ALMS1):c.10704A>C (p.Arg3568Ser)
|
rs758987316
|
0.00006
|
NM_001378454.1(ALMS1):c.11414G>A (p.Arg3805Gln)
|
rs201646938
|
0.00006
|
NM_001378454.1(ALMS1):c.11872+7T>A
|
rs763235048
|
0.00006
|
NM_001378454.1(ALMS1):c.12330C>G (p.Ile4110Met)
|
rs375524122
|
0.00006
|
NM_001378454.1(ALMS1):c.1237+9C>G
|
rs201471551
|
0.00006
|
NM_001378454.1(ALMS1):c.12389A>G (p.Gln4130Arg)
|
rs371587051
|
0.00006
|
NM_001378454.1(ALMS1):c.1470A>G (p.Gln490=)
|
rs769982352
|
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.1834A>C (p.Thr612Pro)
|
rs775286973
|
0.00006
|
NM_001378454.1(ALMS1):c.2570C>T (p.Ser857Phe)
|
rs538743256
|
0.00006
|
NM_001378454.1(ALMS1):c.279C>T (p.Pro93=)
|
rs770203539
|
0.00006
|
NM_001378454.1(ALMS1):c.3038A>G (p.Tyr1013Cys)
|
rs371893544
|
0.00006
|
NM_001378454.1(ALMS1):c.3096C>A (p.Gly1032=)
|
rs368659119
|
0.00006
|
NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His)
|
rs181507134
|
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.3944C>T (p.Ala1315Val)
|
rs750671777
|
0.00006
|
NM_001378454.1(ALMS1):c.4341T>C (p.His1447=)
|
rs770081169
|
0.00006
|
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr)
|
rs373638043
|
0.00006
|
NM_001378454.1(ALMS1):c.4731G>A (p.Pro1577=)
|
rs747216050
|
0.00006
|
NM_001378454.1(ALMS1):c.567T>C (p.Ser189=)
|
rs754250279
|
0.00006
|
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys)
|
rs370398704
|
0.00006
|
NM_001378454.1(ALMS1):c.5835G>A (p.Glu1945=)
|
rs529600949
|
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.7359G>T (p.Lys2453Asn)
|
rs1400122858
|
0.00006
|
NM_001378454.1(ALMS1):c.7367T>C (p.Ile2456Thr)
|
rs894421376
|
0.00006
|
NM_001378454.1(ALMS1):c.757C>T (p.Pro253Ser)
|
rs368153355
|
0.00006
|
NM_001378454.1(ALMS1):c.7719A>G (p.Val2573=)
|
rs561565809
|
0.00006
|
NM_001378454.1(ALMS1):c.7764G>A (p.Arg2588=)
|
rs565248215
|
0.00006
|
NM_001378454.1(ALMS1):c.7846C>T (p.Arg2616Trp)
|
rs145383239
|
0.00006
|
NM_001378454.1(ALMS1):c.7976C>G (p.Pro2659Arg)
|
rs537509954
|
0.00006
|
NM_001378454.1(ALMS1):c.8168C>A (p.Ser2723Tyr)
|
rs368409205
|
0.00006
|
NM_001378454.1(ALMS1):c.9495C>T (p.Phe3165=)
|
rs45607436
|
0.00006
|
NM_001378454.1(ALMS1):c.11167A>G (p.Lys3723Glu)
|
rs530985565
|
0.00005
|
NM_001378454.1(ALMS1):c.11548-3T>C
|
rs555547573
|
0.00005
|
NM_001378454.1(ALMS1):c.11792A>G (p.Glu3931Gly)
|
rs776808559
|
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.3088T>A (p.Ser1030Thr)
|
rs1023974968
|
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.4286A>G (p.Tyr1429Cys)
|
rs763136053
|
0.00005
|
NM_001378454.1(ALMS1):c.432G>A (p.Arg144=)
|
rs772143925
|
0.00005
|
NM_001378454.1(ALMS1):c.4483C>G (p.Leu1495Val)
|
rs373213201
|
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.5074C>T (p.Pro1692Ser)
|
rs764039432
|
0.00005
|
NM_001378454.1(ALMS1):c.5447A>G (p.Tyr1816Cys)
|
rs780110659
|
0.00005
|
NM_001378454.1(ALMS1):c.558C>T (p.Asp186=)
|
rs370228166
|
0.00005
|
NM_001378454.1(ALMS1):c.60G>A (p.Glu20=)
|
rs183407241
|
0.00005
|
NM_001378454.1(ALMS1):c.6143A>G (p.Tyr2048Cys)
|
rs201162418
|
0.00005
|
NM_001378454.1(ALMS1):c.6183G>C (p.Gln2061His)
|
rs200041852
|
0.00005
|
NM_001378454.1(ALMS1):c.6299A>T (p.Lys2100Ile)
|
rs373286582
|
0.00005
|
NM_001378454.1(ALMS1):c.6706C>A (p.Pro2236Thr)
|
rs200724860
|
0.00005
|
NM_001378454.1(ALMS1):c.8811T>C (p.Tyr2937=)
|
rs541559170
|
0.00005
|
NM_001378454.1(ALMS1):c.8918C>T (p.Ala2973Val)
|
rs202110907
|
0.00005
|
NM_001378454.1(ALMS1):c.8961T>A (p.Leu2987=)
|
rs201937708
|
0.00005
|
NM_001378454.1(ALMS1):c.9018C>T (p.His3006=)
|
rs376757358
|
0.00005
|
NM_001378454.1(ALMS1):c.9733G>A (p.Ala3245Thr)
|
rs200432874
|
0.00005
|
NM_001378454.1(ALMS1):c.9769C>T (p.Arg3257Cys)
|
rs373998843
|
0.00005
|
NM_001378454.1(ALMS1):c.9937C>G (p.Pro3313Ala)
|
rs762967276
|
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.10858A>C (p.Arg3620=)
|
rs201598829
|
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.11413C>T (p.Arg3805Ter)
|
rs376091780
|
0.00004
|
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=)
|
rs750087396
|
0.00004
|
NM_001378454.1(ALMS1):c.11547+16T>C
|
rs373935106
|
0.00004
|
NM_001378454.1(ALMS1):c.11567C>T (p.Ser3856Phe)
|
rs1414717577
|
0.00004
|
NM_001378454.1(ALMS1):c.11669-17A>G
|
rs762591261
|
0.00004
|
NM_001378454.1(ALMS1):c.11669-7C>A
|
rs548573570
|
0.00004
|
NM_001378454.1(ALMS1):c.11863T>G (p.Ser3955Ala)
|
rs45528134
|
0.00004
|
NM_001378454.1(ALMS1):c.1238-9A>G
|
rs372652836
|
0.00004
|
NM_001378454.1(ALMS1):c.12432A>G (p.Ser4144=)
|
rs762630256
|
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.1432+15G>A
|
rs376610564
|
0.00004
|
NM_001378454.1(ALMS1):c.1695T>C (p.Thr565=)
|
rs368992526
|
0.00004
|
NM_001378454.1(ALMS1):c.1815T>G (p.Pro605=)
|
rs983651117
|
0.00004
|
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp)
|
rs531859344
|
0.00004
|
NM_001378454.1(ALMS1):c.1971G>T (p.Gln657His)
|
rs753296810
|
0.00004
|
NM_001378454.1(ALMS1):c.2022C>T (p.Asp674=)
|
rs374151754
|
0.00004
|
NM_001378454.1(ALMS1):c.2269C>T (p.Pro757Ser)
|
rs200827630
|
0.00004
|
NM_001378454.1(ALMS1):c.2370T>G (p.Val790=)
|
rs370372529
|
0.00004
|
NM_001378454.1(ALMS1):c.2434T>G (p.Ser812Ala)
|
rs376991574
|
0.00004
|
NM_001378454.1(ALMS1):c.2577G>A (p.Ala859=)
|
rs547563359
|
0.00004
|
NM_001378454.1(ALMS1):c.311C>T (p.Thr104Ile)
|
rs1394136837
|
0.00004
|
NM_001378454.1(ALMS1):c.3319T>C (p.Tyr1107His)
|
rs746162373
|
0.00004
|
NM_001378454.1(ALMS1):c.3464A>C (p.His1155Pro)
|
rs553406974
|
0.00004
|
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter)
|
rs751804613
|
0.00004
|
NM_001378454.1(ALMS1):c.4140T>C (p.Ser1380=)
|
rs1362041238
|
0.00004
|
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter)
|
rs150825781
|
0.00004
|
NM_001378454.1(ALMS1):c.4324G>T (p.Val1442Phe)
|
rs375842278
|
0.00004
|
NM_001378454.1(ALMS1):c.435T>C (p.Gly145=)
|
rs541827475
|
0.00004
|
NM_001378454.1(ALMS1):c.4448T>C (p.Ile1483Thr)
|
rs370271775
|
0.00004
|
NM_001378454.1(ALMS1):c.450+11T>C
|
rs763724672
|
0.00004
|
NM_001378454.1(ALMS1):c.451-5T>G
|
rs774098604
|
0.00004
|
NM_001378454.1(ALMS1):c.5267C>G (p.Ser1756Cys)
|
rs761486372
|
0.00004
|
NM_001378454.1(ALMS1):c.5355T>G (p.Val1785=)
|
rs1420283861
|
0.00004
|
NM_001378454.1(ALMS1):c.536C>T (p.Thr179Met)
|
rs768531502
|
0.00004
|
NM_001378454.1(ALMS1):c.5444C>T (p.Ser1815Phe)
|
rs528863432
|
0.00004
|
NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu)
|
rs191286546
|
0.00004
|
NM_001378454.1(ALMS1):c.6087T>C (p.Thr2029=)
|
rs199967386
|
0.00004
|
NM_001378454.1(ALMS1):c.6577G>A (p.Glu2193Lys)
|
rs911597055
|
0.00004
|
NM_001378454.1(ALMS1):c.6628A>G (p.Asn2210Asp)
|
rs780909821
|
0.00004
|
NM_001378454.1(ALMS1):c.6815T>C (p.Met2272Thr)
|
rs1330734793
|
0.00004
|
NM_001378454.1(ALMS1):c.6853C>T (p.Arg2285Cys)
|
rs375458331
|
0.00004
|
NM_001378454.1(ALMS1):c.6926C>T (p.Thr2309Met)
|
rs147001219
|
0.00004
|
NM_001378454.1(ALMS1):c.7017G>A (p.Gln2339=)
|
rs190319211
|
0.00004
|
NM_001378454.1(ALMS1):c.7276T>G (p.Cys2426Gly)
|
rs549778430
|
0.00004
|
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr)
|
rs760068474
|
0.00004
|
NM_001378454.1(ALMS1):c.7445A>G (p.His2482Arg)
|
rs199698329
|
0.00004
|
NM_001378454.1(ALMS1):c.7464A>G (p.Gln2488=)
|
rs765766155
|
0.00004
|
NM_001378454.1(ALMS1):c.7525C>T (p.Arg2509Trp)
|
rs34183407
|
0.00004
|
NM_001378454.1(ALMS1):c.7541-14T>C
|
rs554746330
|
0.00004
|
NM_001378454.1(ALMS1):c.7577G>A (p.Gly2526Glu)
|
rs201654702
|
0.00004
|
NM_001378454.1(ALMS1):c.777T>G (p.Asp259Glu)
|
rs190445250
|
0.00004
|
NM_001378454.1(ALMS1):c.7812C>G (p.Phe2604Leu)
|
rs201739856
|
0.00004
|
NM_001378454.1(ALMS1):c.7816T>C (p.Ser2606Pro)
|
rs532551687
|
0.00004
|
NM_001378454.1(ALMS1):c.8035T>G (p.Trp2679Gly)
|
rs1403694361
|
0.00004
|
NM_001378454.1(ALMS1):c.8109G>A (p.Pro2703=)
|
rs759983484
|
0.00004
|
NM_001378454.1(ALMS1):c.8206G>A (p.Val2736Ile)
|
rs766878343
|
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.9083G>A (p.Cys3028Tyr)
|
rs565501407
|
0.00004
|
NM_001378454.1(ALMS1):c.9173A>G (p.Lys3058Arg)
|
rs149329669
|
0.00004
|
NM_001378454.1(ALMS1):c.9263A>G (p.His3088Arg)
|
rs376083621
|
0.00004
|
NM_001378454.1(ALMS1):c.9381C>T (p.Val3127=)
|
rs754743943
|
0.00004
|
NM_001378454.1(ALMS1):c.9386A>C (p.Gln3129Pro)
|
rs372015288
|
0.00004
|
NM_001378454.1(ALMS1):c.9477A>G (p.Gln3159=)
|
rs759377981
|
0.00004
|
NM_001378454.1(ALMS1):c.955A>G (p.Asn319Asp)
|
rs376892136
|
0.00004
|
NM_001378454.1(ALMS1):c.9713G>A (p.Arg3238His)
|
rs1176919572
|
0.00004
|
NM_001378454.1(ALMS1):c.9770G>A (p.Arg3257His)
|
rs748153319
|
0.00004
|
NM_001378454.1(ALMS1):c.9782-19C>A
|
rs777706370
|
0.00004
|
NM_001378454.1(ALMS1):c.9866C>T (p.Pro3289Leu)
|
rs369660958
|
0.00004
|
NM_001378454.1(ALMS1):c.10304A>G (p.Lys3435Arg)
|
rs187607395
|
0.00003
|
NM_001378454.1(ALMS1):c.1032A>G (p.Ser344=)
|
rs376519124
|
0.00003
|
NM_001378454.1(ALMS1):c.10389C>T (p.Ser3463=)
|
rs760299487
|
0.00003
|
NM_001378454.1(ALMS1):c.10985A>G (p.Glu3662Gly)
|
rs377418428
|
0.00003
|
NM_001378454.1(ALMS1):c.11283C>T (p.Val3761=)
|
rs183916999
|
0.00003
|
NM_001378454.1(ALMS1):c.11332A>G (p.Arg3778Gly)
|
rs773130069
|
0.00003
|
NM_001378454.1(ALMS1):c.11365C>T (p.Arg3789Trp)
|
rs752623561
|
0.00003
|
NM_001378454.1(ALMS1):c.11441A>C (p.Asn3814Thr)
|
rs763907736
|
0.00003
|
NM_001378454.1(ALMS1):c.11669-2A>G
|
rs952110960
|
0.00003
|
NM_001378454.1(ALMS1):c.11798G>A (p.Arg3933His)
|
rs45576434
|
0.00003
|
NM_001378454.1(ALMS1):c.11854A>G (p.Lys3952Glu)
|
rs771282076
|
0.00003
|
NM_001378454.1(ALMS1):c.12350A>G (p.Gln4117Arg)
|
rs200038446
|
0.00003
|
NM_001378454.1(ALMS1):c.12354G>A (p.Arg4118=)
|
rs546745992
|
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.169G>A (p.Asp57Asn)
|
rs773881728
|
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.1856C>T (p.Ser619Phe)
|
rs377341653
|
0.00003
|
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=)
|
rs750362630
|
0.00003
|
NM_001378454.1(ALMS1):c.2107G>C (p.Asp703His)
|
rs756176783
|
0.00003
|
NM_001378454.1(ALMS1):c.2122A>G (p.Thr708Ala)
|
rs571389435
|
0.00003
|
NM_001378454.1(ALMS1):c.2128A>G (p.Thr710Ala)
|
rs367641723
|
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.245C>T (p.Ala82Val)
|
rs747750620
|
0.00003
|
NM_001378454.1(ALMS1):c.2486A>G (p.His829Arg)
|
rs370830603
|
0.00003
|
NM_001378454.1(ALMS1):c.2494G>A (p.Glu832Lys)
|
rs373979607
|
0.00003
|
NM_001378454.1(ALMS1):c.2515G>A (p.Ala839Thr)
|
rs1356972872
|
0.00003
|
NM_001378454.1(ALMS1):c.2714C>G (p.Ser905Cys)
|
rs748479099
|
0.00003
|
NM_001378454.1(ALMS1):c.2775T>C (p.Phe925=)
|
rs958251140
|
0.00003
|
NM_001378454.1(ALMS1):c.2922A>T (p.Leu974=)
|
rs199769789
|
0.00003
|
NM_001378454.1(ALMS1):c.3076G>C (p.Ala1026Pro)
|
rs201451396
|
0.00003
|
NM_001378454.1(ALMS1):c.329T>C (p.Val110Ala)
|
rs1193275022
|
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.3432C>T (p.Tyr1144=)
|
rs768929630
|
0.00003
|
NM_001378454.1(ALMS1):c.3484A>G (p.Thr1162Ala)
|
rs763680884
|
0.00003
|
NM_001378454.1(ALMS1):c.3768T>C (p.Asn1256=)
|
rs1273618684
|
0.00003
|
NM_001378454.1(ALMS1):c.3959C>G (p.Ala1320Gly)
|
rs1399638135
|
0.00003
|
NM_001378454.1(ALMS1):c.4267A>T (p.Thr1423Ser)
|
rs746145270
|
0.00003
|
NM_001378454.1(ALMS1):c.4435G>A (p.Gly1479Arg)
|
rs750765175
|
0.00003
|
NM_001378454.1(ALMS1):c.4447A>G (p.Ile1483Val)
|
rs749573527
|
0.00003
|
NM_001378454.1(ALMS1):c.451-4C>G
|
rs761589577
|
0.00003
|
NM_001378454.1(ALMS1):c.4761T>C (p.Asp1587=)
|
rs747858041
|
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.4872C>T (p.Pro1624=)
|
rs372692493
|
0.00003
|
NM_001378454.1(ALMS1):c.4883A>G (p.Tyr1628Cys)
|
rs375939859
|
0.00003
|
NM_001378454.1(ALMS1):c.4907C>T (p.Pro1636Leu)
|
rs775768298
|
0.00003
|
NM_001378454.1(ALMS1):c.4938T>G (p.Ala1646=)
|
rs767547246
|
0.00003
|
NM_001378454.1(ALMS1):c.5155A>G (p.Ile1719Val)
|
rs1438158545
|
0.00003
|
NM_001378454.1(ALMS1):c.5174C>A (p.Ala1725Asp)
|
rs764135516
|
0.00003
|
NM_001378454.1(ALMS1):c.5597C>T (p.Pro1866Leu)
|
rs1323058030
|
0.00003
|
NM_001378454.1(ALMS1):c.5724G>C (p.Gln1908His)
|
rs779739318
|
0.00003
|
NM_001378454.1(ALMS1):c.587C>T (p.Thr196Met)
|
rs562345472
|
0.00003
|
NM_001378454.1(ALMS1):c.5909T>C (p.Val1970Ala)
|
rs765405386
|
0.00003
|
NM_001378454.1(ALMS1):c.6303G>A (p.Ser2101=)
|
rs555344566
|
0.00003
|
NM_001378454.1(ALMS1):c.6379C>T (p.Pro2127Ser)
|
rs771800459
|
0.00003
|
NM_001378454.1(ALMS1):c.646+17T>C
|
rs763246949
|
0.00003
|
NM_001378454.1(ALMS1):c.651A>G (p.Ile217Met)
|
rs774831792
|
0.00003
|
NM_001378454.1(ALMS1):c.6658A>G (p.Asn2220Asp)
|
rs1303642220
|
0.00003
|
NM_001378454.1(ALMS1):c.6707C>T (p.Pro2236Leu)
|
rs201737248
|
0.00003
|
NM_001378454.1(ALMS1):c.6937A>G (p.Asn2313Asp)
|
rs766346478
|
0.00003
|
NM_001378454.1(ALMS1):c.6976A>G (p.Ser2326Gly)
|
rs560736902
|
0.00003
|
NM_001378454.1(ALMS1):c.7013C>T (p.Thr2338Ile)
|
rs373004988
|
0.00003
|
NM_001378454.1(ALMS1):c.7040G>T (p.Gly2347Val)
|
rs752336806
|
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.75A>G (p.Glu25=)
|
rs13009043
|
0.00003
|
NM_001378454.1(ALMS1):c.7675-19G>A
|
rs1399037677
|
0.00003
|
NM_001378454.1(ALMS1):c.7892C>T (p.Ala2631Val)
|
rs1027248513
|
0.00003
|
NM_001378454.1(ALMS1):c.7983A>T (p.Glu2661Asp)
|
rs1213279792
|
0.00003
|
NM_001378454.1(ALMS1):c.8016C>T (p.Phe2672=)
|
rs762352626
|
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.8203G>A (p.Gly2735Ser)
|
rs761136859
|
0.00003
|
NM_001378454.1(ALMS1):c.820A>C (p.Ser274Arg)
|
rs761800808
|
0.00003
|
NM_001378454.1(ALMS1):c.8257C>A (p.His2753Asn)
|
rs200718841
|
0.00003
|
NM_001378454.1(ALMS1):c.8489G>A (p.Cys2830Tyr)
|
rs369720907
|
0.00003
|
NM_001378454.1(ALMS1):c.8577G>A (p.Ser2859=)
|
rs199850691
|
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.8920C>T (p.Pro2974Ser)
|
rs1043429291
|
0.00003
|
NM_001378454.1(ALMS1):c.9112C>T (p.Pro3038Ser)
|
rs370622410
|
0.00003
|
NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser)
|
rs553507775
|
0.00003
|
NM_001378454.1(ALMS1):c.9565C>T (p.Leu3189Phe)
|
rs376367125
|
0.00003
|
NM_001378454.1(ALMS1):c.9888C>T (p.Thr3296=)
|
rs372451785
|
0.00003
|
NM_001378454.1(ALMS1):c.*111A>G
|
rs200498913
|
0.00002
|
NM_001378454.1(ALMS1):c.10020G>A (p.Arg3340=)
|
rs746166271
|
0.00002
|
NM_001378454.1(ALMS1):c.10023A>G (p.Val3341=)
|
rs770072519
|
0.00002
|
NM_001378454.1(ALMS1):c.10081G>T (p.Ala3361Ser)
|
rs770904502
|
0.00002
|
NM_001378454.1(ALMS1):c.10214-19G>A
|
rs763103896
|
0.00002
|
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=)
|
rs1464934308
|
0.00002
|
NM_001378454.1(ALMS1):c.10261C>A (p.Pro3421Thr)
|
rs763306448
|
0.00002
|
NM_001378454.1(ALMS1):c.10384+3A>G
|
rs752727300
|
0.00002
|
NM_001378454.1(ALMS1):c.10427T>C (p.Val3476Ala)
|
rs750128969
|
0.00002
|
NM_001378454.1(ALMS1):c.10461C>T (p.Pro3487=)
|
rs202036843
|
0.00002
|
NM_001378454.1(ALMS1):c.10550A>G (p.His3517Arg)
|
rs753393562
|
0.00002
|
NM_001378454.1(ALMS1):c.10630A>G (p.Arg3544Gly)
|
rs773075850
|
0.00002
|
NM_001378454.1(ALMS1):c.10817G>A (p.Arg3606Gln)
|
rs148044176
|
0.00002
|
NM_001378454.1(ALMS1):c.10832A>G (p.Gln3611Arg)
|
rs45452795
|
0.00002
|
NM_001378454.1(ALMS1):c.11329G>A (p.Glu3777Lys)
|
rs565098671
|
0.00002
|
NM_001378454.1(ALMS1):c.1139T>C (p.Ile380Thr)
|
rs199872225
|
0.00002
|
NM_001378454.1(ALMS1):c.11499A>G (p.Thr3833=)
|
rs762899971
|
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.11574C>T (p.Asp3858=)
|
rs561636004
|
0.00002
|
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr)
|
rs45630562
|
0.00002
|
NM_001378454.1(ALMS1):c.11667del (p.Gly3890fs)
|
rs1553421496
|
0.00002
|
NM_001378454.1(ALMS1):c.11668+17A>G
|
rs201109126
|
0.00002
|
NM_001378454.1(ALMS1):c.11703C>T (p.His3901=)
|
rs1221566713
|
0.00002
|
NM_001378454.1(ALMS1):c.11742C>T (p.Ser3914=)
|
rs374909171
|
0.00002
|
NM_001378454.1(ALMS1):c.11755T>C (p.Leu3919=)
|
rs750372739
|
0.00002
|
NM_001378454.1(ALMS1):c.120A>G (p.Val40=)
|
rs537537228
|
0.00002
|
NM_001378454.1(ALMS1):c.12321C>T (p.Asn4107=)
|
rs767420244
|
0.00002
|
NM_001378454.1(ALMS1):c.12363-12G>A
|
rs749504196
|
0.00002
|
NM_001378454.1(ALMS1):c.1237+8C>A
|
rs771449454
|
0.00002
|
NM_001378454.1(ALMS1):c.12376C>T (p.Leu4126Phe)
|
rs746923966
|
0.00002
|
NM_001378454.1(ALMS1):c.1238-16del
|
rs746989906
|
0.00002
|
NM_001378454.1(ALMS1):c.1238-20A>G
|
rs771811655
|
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.1252A>G (p.Lys418Glu)
|
rs760066942
|
0.00002
|
NM_001378454.1(ALMS1):c.1338+18G>A
|
rs369695595
|
0.00002
|
NM_001378454.1(ALMS1):c.1450G>C (p.Gly484Arg)
|
rs1212388844
|
0.00002
|
NM_001378454.1(ALMS1):c.1566A>G (p.Val522=)
|
rs1411790516
|
0.00002
|
NM_001378454.1(ALMS1):c.1578A>G (p.Leu526=)
|
rs753222733
|
0.00002
|
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter)
|
rs755760721
|
0.00002
|
NM_001378454.1(ALMS1):c.1633A>G (p.Thr545Ala)
|
rs201647675
|
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.1969C>G (p.Gln657Glu)
|
rs1371488235
|
0.00002
|
NM_001378454.1(ALMS1):c.2059C>T (p.His687Tyr)
|
rs771266951
|
0.00002
|
NM_001378454.1(ALMS1):c.228C>G (p.Ala76=)
|
rs755847221
|
0.00002
|
NM_001378454.1(ALMS1):c.2293T>C (p.Ser765Pro)
|
rs373936479
|
0.00002
|
NM_001378454.1(ALMS1):c.2345A>G (p.His782Arg)
|
rs549457439
|
0.00002
|
NM_001378454.1(ALMS1):c.2420C>G (p.Pro807Arg)
|
rs372717861
|
0.00002
|
NM_001378454.1(ALMS1):c.2502T>C (p.Ala834=)
|
rs761599987
|
0.00002
|
NM_001378454.1(ALMS1):c.2686C>G (p.Gln896Glu)
|
rs376834704
|
0.00002
|
NM_001378454.1(ALMS1):c.2739G>C (p.Lys913Asn)
|
rs373378385
|
0.00002
|
NM_001378454.1(ALMS1):c.2753C>G (p.Ser918Cys)
|
rs369228801
|
0.00002
|
NM_001378454.1(ALMS1):c.2804C>T (p.Ser935Leu)
|
rs1183510271
|
0.00002
|
NM_001378454.1(ALMS1):c.2817A>G (p.Val939=)
|
rs376517753
|
0.00002
|
NM_001378454.1(ALMS1):c.2850G>A (p.Val950=)
|
rs551541932
|
0.00002
|
NM_001378454.1(ALMS1):c.2961G>A (p.Leu987=)
|
rs745503022
|
0.00002
|
NM_001378454.1(ALMS1):c.2997T>G (p.Pro999=)
|
rs1427354998
|
0.00002
|
NM_001378454.1(ALMS1):c.3002G>T (p.Gly1001Val)
|
rs773630367
|
0.00002
|
NM_001378454.1(ALMS1):c.3048G>A (p.Glu1016=)
|
rs765275016
|
0.00002
|
NM_001378454.1(ALMS1):c.3120T>A (p.Thr1040=)
|
rs372764773
|
0.00002
|
NM_001378454.1(ALMS1):c.315C>T (p.Ser105=)
|
rs754611450
|
0.00002
|
NM_001378454.1(ALMS1):c.3318C>G (p.Phe1106Leu)
|
rs1044966122
|
0.00002
|
NM_001378454.1(ALMS1):c.3403G>A (p.Gly1135Ser)
|
rs1419651180
|
0.00002
|
NM_001378454.1(ALMS1):c.3431A>T (p.Tyr1144Phe)
|
rs749513495
|
0.00002
|
NM_001378454.1(ALMS1):c.343C>T (p.His115Tyr)
|
rs759255714
|
0.00002
|
NM_001378454.1(ALMS1):c.3493C>T (p.Pro1165Ser)
|
rs767103091
|
0.00002
|
NM_001378454.1(ALMS1):c.3545C>T (p.Thr1182Ile)
|
rs778965893
|
0.00002
|
NM_001378454.1(ALMS1):c.3561A>G (p.Val1187=)
|
rs777970870
|
0.00002
|
NM_001378454.1(ALMS1):c.3591A>G (p.Lys1197=)
|
rs773852068
|
0.00002
|
NM_001378454.1(ALMS1):c.3604T>C (p.Tyr1202His)
|
rs766931841
|
0.00002
|
NM_001378454.1(ALMS1):c.3762A>G (p.Pro1254=)
|
rs771791019
|
0.00002
|
NM_001378454.1(ALMS1):c.387A>G (p.Gln129=)
|
rs746391155
|
0.00002
|
NM_001378454.1(ALMS1):c.3881G>C (p.Ser1294Thr)
|
rs373835067
|
0.00002
|
NM_001378454.1(ALMS1):c.3882C>T (p.Ser1294=)
|
rs746658957
|
0.00002
|
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala)
|
rs760866713
|
0.00002
|
NM_001378454.1(ALMS1):c.4131C>T (p.Thr1377=)
|
rs759705921
|
0.00002
|
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs)
|
rs797045228
|
0.00002
|
NM_001378454.1(ALMS1):c.4221C>T (p.Asn1407=)
|
rs761902133
|
0.00002
|
NM_001378454.1(ALMS1):c.4314C>T (p.Phe1438=)
|
rs541180403
|
0.00002
|
NM_001378454.1(ALMS1):c.4464G>A (p.Gln1488=)
|
rs770845249
|
0.00002
|
NM_001378454.1(ALMS1):c.450+7C>A
|
rs775200355
|
0.00002
|
NM_001378454.1(ALMS1):c.451-20T>C
|
rs762592063
|
0.00002
|
NM_001378454.1(ALMS1):c.460T>A (p.Ser154Thr)
|
rs767106643
|
0.00002
|
NM_001378454.1(ALMS1):c.4758A>G (p.Pro1586=)
|
rs778600773
|
0.00002
|
NM_001378454.1(ALMS1):c.4829T>C (p.Ile1610Thr)
|
rs757356524
|
0.00002
|
NM_001378454.1(ALMS1):c.5163C>T (p.Phe1721=)
|
rs1222275039
|
0.00002
|
NM_001378454.1(ALMS1):c.5194A>T (p.Thr1732Ser)
|
rs370735089
|
0.00002
|
NM_001378454.1(ALMS1):c.5532C>T (p.Asn1844=)
|
rs369656698
|
0.00002
|
NM_001378454.1(ALMS1):c.5565G>A (p.Glu1855=)
|
rs535259433
|
0.00002
|
NM_001378454.1(ALMS1):c.5566C>G (p.His1856Asp)
|
rs777664567
|
0.00002
|
NM_001378454.1(ALMS1):c.5694T>A (p.Asn1898Lys)
|
rs1317035563
|
0.00002
|
NM_001378454.1(ALMS1):c.5765T>C (p.Val1922Ala)
|
rs761428155
|
0.00002
|
NM_001378454.1(ALMS1):c.5860G>A (p.Glu1954Lys)
|
rs1313974028
|
0.00002
|
NM_001378454.1(ALMS1):c.5971T>G (p.Ser1991Ala)
|
rs777227174
|
0.00002
|
NM_001378454.1(ALMS1):c.6231C>A (p.Val2077=)
|
rs748449043
|
0.00002
|
NM_001378454.1(ALMS1):c.6441A>G (p.Lys2147=)
|
rs776254949
|
0.00002
|
NM_001378454.1(ALMS1):c.6444A>G (p.Pro2148=)
|
rs1220162012
|
0.00002
|
NM_001378454.1(ALMS1):c.6498A>C (p.Leu2166=)
|
rs778927340
|
0.00002
|
NM_001378454.1(ALMS1):c.6567C>T (p.Tyr2189=)
|
rs368523556
|
0.00002
|
NM_001378454.1(ALMS1):c.679C>T (p.Pro227Ser)
|
rs756201461
|
0.00002
|
NM_001378454.1(ALMS1):c.6820C>T (p.Leu2274=)
|
rs1447282271
|
0.00002
|
NM_001378454.1(ALMS1):c.6833A>G (p.Asn2278Ser)
|
rs767464740
|
0.00002
|
NM_001378454.1(ALMS1):c.7020G>A (p.Thr2340=)
|
rs760756852
|
0.00002
|
NM_001378454.1(ALMS1):c.7033C>T (p.Arg2345Trp)
|
rs776611154
|
0.00002
|
NM_001378454.1(ALMS1):c.7037G>A (p.Arg2346Lys)
|
rs765006341
|
0.00002
|
NM_001378454.1(ALMS1):c.7143T>C (p.Tyr2381=)
|
rs1241546898
|
0.00002
|
NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val)
|
rs370830919
|
0.00002
|
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=)
|
rs373972884
|
0.00002
|
NM_001378454.1(ALMS1):c.7281G>A (p.Ser2427=)
|
rs200684911
|
0.00002
|
NM_001378454.1(ALMS1):c.7287C>G (p.Asp2429Glu)
|
rs994637726
|
0.00002
|
NM_001378454.1(ALMS1):c.7328T>G (p.Leu2443Arg)
|
rs766944640
|
0.00002
|
NM_001378454.1(ALMS1):c.7493A>T (p.Glu2498Val)
|
rs1164499906
|
0.00002
|
NM_001378454.1(ALMS1):c.7541-6C>T
|
rs1408073039
|
0.00002
|
NM_001378454.1(ALMS1):c.764+19A>G
|
rs1035974697
|
0.00002
|
NM_001378454.1(ALMS1):c.765-12A>G
|
rs200209691
|
0.00002
|
NM_001378454.1(ALMS1):c.7674+9G>T
|
rs1046548369
|
0.00002
|
NM_001378454.1(ALMS1):c.7701A>T (p.Gly2567=)
|
rs767409467
|
0.00002
|
NM_001378454.1(ALMS1):c.7710A>C (p.Pro2570=)
|
rs750225944
|
0.00002
|
NM_001378454.1(ALMS1):c.78G>A (p.Glu26=)
|
rs13009604
|
0.00002
|
NM_001378454.1(ALMS1):c.7912T>A (p.Ser2638Thr)
|
rs548882067
|
0.00002
|
NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu)
|
rs996036496
|
0.00002
|
NM_001378454.1(ALMS1):c.8040G>T (p.Leu2680=)
|
rs755241265
|
0.00002
|
NM_001378454.1(ALMS1):c.8044G>T (p.Glu2682Ter)
|
rs779187578
|
0.00002
|
NM_001378454.1(ALMS1):c.8134A>G (p.Thr2712Ala)
|
rs765519997
|
0.00002
|
NM_001378454.1(ALMS1):c.813G>A (p.Ser271=)
|
rs775482774
|
0.00002
|
NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter)
|
rs193919340
|
0.00002
|
NM_001378454.1(ALMS1):c.8181C>G (p.Ser2727=)
|
rs747669538
|
0.00002
|
NM_001378454.1(ALMS1):c.821G>A (p.Ser274Asn)
|
rs767513098
|
0.00002
|
NM_001378454.1(ALMS1):c.8379G>A (p.Arg2793=)
|
rs559811855
|
0.00002
|
NM_001378454.1(ALMS1):c.8410C>T (p.Arg2804Cys)
|
rs746432199
|
0.00002
|
NM_001378454.1(ALMS1):c.8462A>G (p.His2821Arg)
|
rs1259827695
|
0.00002
|
NM_001378454.1(ALMS1):c.8589A>G (p.Leu2863=)
|
rs778918786
|
0.00002
|
NM_001378454.1(ALMS1):c.8626C>A (p.Leu2876Ile)
|
rs1447116062
|
0.00002
|
NM_001378454.1(ALMS1):c.8684G>A (p.Arg2895His)
|
rs755542969
|
0.00002
|
NM_001378454.1(ALMS1):c.8720C>G (p.Ser2907Cys)
|
rs747291259
|
0.00002
|
NM_001378454.1(ALMS1):c.872G>C (p.Ser291Thr)
|
rs568470985
|
0.00002
|
NM_001378454.1(ALMS1):c.874C>T (p.Arg292Cys)
|
rs757657988
|
0.00002
|
NM_001378454.1(ALMS1):c.8861A>G (p.Asp2954Gly)
|
rs751940353
|
0.00002
|
NM_001378454.1(ALMS1):c.8882C>T (p.Pro2961Leu)
|
rs781477502
|
0.00002
|
NM_001378454.1(ALMS1):c.8926G>A (p.Val2976Ile)
|
rs1298787753
|
0.00002
|
NM_001378454.1(ALMS1):c.8928A>G (p.Val2976=)
|
rs373374154
|
0.00002
|
NM_001378454.1(ALMS1):c.9026A>G (p.Asn3009Ser)
|
rs757198941
|
0.00002
|
NM_001378454.1(ALMS1):c.902T>C (p.Ile301Thr)
|
rs374259576
|
0.00002
|
NM_001378454.1(ALMS1):c.9055G>A (p.Val3019Met)
|
rs773897748
|
0.00002
|
NM_001378454.1(ALMS1):c.9075A>G (p.Pro3025=)
|
rs1278648561
|
0.00002
|
NM_001378454.1(ALMS1):c.9126A>G (p.Lys3042=)
|
rs781138734
|
0.00002
|
NM_001378454.1(ALMS1):c.9178G>T (p.Asp3060Tyr)
|
rs547914710
|
0.00002
|
NM_001378454.1(ALMS1):c.921G>A (p.Gly307=)
|
rs1290857231
|
0.00002
|
NM_001378454.1(ALMS1):c.9231G>A (p.Ala3077=)
|
rs1328459312
|
0.00002
|
NM_001378454.1(ALMS1):c.9276G>A (p.Ser3092=)
|
rs1462656920
|
0.00002
|
NM_001378454.1(ALMS1):c.9281C>T (p.Ser3094Leu)
|
rs368970124
|
0.00002
|
NM_001378454.1(ALMS1):c.9324A>G (p.Ala3108=)
|
rs747570402
|
0.00002
|
NM_001378454.1(ALMS1):c.9360A>G (p.Lys3120=)
|
rs368408369
|
0.00002
|
NM_001378454.1(ALMS1):c.9708G>A (p.Lys3236=)
|
rs574095166
|
0.00002
|
NM_001378454.1(ALMS1):c.9722C>A (p.Pro3241His)
|
rs770579229
|
0.00002
|
NM_001378454.1(ALMS1):c.9772G>A (p.Gly3258Ser)
|
rs769100528
|
0.00002
|
NM_001378454.1(ALMS1):c.9828G>A (p.Met3276Ile)
|
rs551840069
|
0.00002
|
NM_001378454.1(ALMS1):c.9907+7T>G
|
rs375870610
|
0.00002
|
NM_001378454.1(ALMS1):c.9907+8G>A
|
rs369727166
|
0.00002
|
NM_001378454.1(ALMS1):c.9928C>T (p.Pro3310Ser)
|
rs775666186
|
0.00002
|
NM_001378454.1(ALMS1):c.9995A>G (p.His3332Arg)
|
rs777406837
|
0.00002
|
NM_001378454.1(ALMS1):c.-19C>T
|
rs1553396078
|
0.00001
|
NM_001378454.1(ALMS1):c.-20G>A
|
rs935547269
|
0.00001
|
NM_001378454.1(ALMS1):c.10004G>T (p.Gly3335Val)
|
rs1344858585
|
0.00001
|
NM_001378454.1(ALMS1):c.10011C>T (p.Tyr3337=)
|
rs757671067
|
0.00001
|
NM_001378454.1(ALMS1):c.10059C>T (p.Pro3353=)
|
rs1180602339
|
0.00001
|
NM_001378454.1(ALMS1):c.1006T>C (p.Cys336Arg)
|
rs746923506
|
0.00001
|
NM_001378454.1(ALMS1):c.10070A>G (p.Glu3357Gly)
|
rs776497929
|
0.00001
|
NM_001378454.1(ALMS1):c.10078+10T>C
|
rs752454047
|
0.00001
|
NM_001378454.1(ALMS1):c.10078+1G>T
|
rs765075310
|
0.00001
|
NM_001378454.1(ALMS1):c.10078+2dup
|
rs755740074
|
0.00001
|
NM_001378454.1(ALMS1):c.10079-10G>A
|
rs778996015
|
0.00001
|
NM_001378454.1(ALMS1):c.10122A>G (p.Ser3374=)
|
rs761165541
|
0.00001
|
NM_001378454.1(ALMS1):c.10137A>G (p.Gln3379=)
|
rs756623131
|
0.00001
|
NM_001378454.1(ALMS1):c.10148G>A (p.Ser3383Asn)
|
rs1553416873
|
0.00001
|
NM_001378454.1(ALMS1):c.10169C>T (p.Ala3390Val)
|
rs905527689
|
0.00001
|
NM_001378454.1(ALMS1):c.10177G>A (p.Ala3393Thr)
|
rs145678202
|
0.00001
|
NM_001378454.1(ALMS1):c.10179T>C (p.Ala3393=)
|
rs749030025
|
0.00001
|
NM_001378454.1(ALMS1):c.10186A>G (p.Lys3396Glu)
|
rs1473998334
|
0.00001
|
NM_001378454.1(ALMS1):c.10212A>G (p.Ala3404=)
|
rs755401614
|
0.00001
|
NM_001378454.1(ALMS1):c.10213+11T>C
|
rs1553416883
|
0.00001
|
NM_001378454.1(ALMS1):c.10214-4G>A
|
rs757482053
|
0.00001
|
NM_001378454.1(ALMS1):c.10214-5C>T
|
rs751591632
|
0.00001
|
NM_001378454.1(ALMS1):c.10214A>T (p.Asp3405Val)
|
rs781411724
|
0.00001
|
NM_001378454.1(ALMS1):c.10217C>G (p.Ser3406Cys)
|
rs1279080725
|
0.00001
|
NM_001378454.1(ALMS1):c.10233T>G (p.Ala3411=)
|
rs746651541
|
0.00001
|
NM_001378454.1(ALMS1):c.10251A>G (p.Gln3417=)
|
rs770284777
|
0.00001
|
NM_001378454.1(ALMS1):c.10263A>G (p.Pro3421=)
|
rs1446989496
|
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.10334C>T (p.Pro3445Leu)
|
rs1170663588
|
0.00001
|
NM_001378454.1(ALMS1):c.10338G>T (p.Glu3446Asp)
|
rs928444733
|
0.00001
|
NM_001378454.1(ALMS1):c.10357A>T (p.Lys3453Ter)
|
rs1674604760
|
0.00001
|
NM_001378454.1(ALMS1):c.1035T>C (p.Tyr345=)
|
rs762735674
|
0.00001
|
NM_001378454.1(ALMS1):c.10384+6G>A
|
rs1343830351
|
0.00001
|
NM_001378454.1(ALMS1):c.10385-5T>C
|
rs1345014390
|
0.00001
|
NM_001378454.1(ALMS1):c.10385-9C>T
|
rs568809052
|
0.00001
|
NM_001378454.1(ALMS1):c.103G>C (p.Ala35Pro)
|
rs955371491
|
0.00001
|
NM_001378454.1(ALMS1):c.10420C>T (p.Arg3474Cys)
|
rs759337193
|
0.00001
|
NM_001378454.1(ALMS1):c.10425T>C (p.Ser3475=)
|
rs767283952
|
0.00001
|
NM_001378454.1(ALMS1):c.10433G>A (p.Arg3478Lys)
|
rs893973875
|
0.00001
|
NM_001378454.1(ALMS1):c.10440A>G (p.Ala3480=)
|
rs375046790
|
0.00001
|
NM_001378454.1(ALMS1):c.10467C>T (p.His3489=)
|
rs371631738
|
0.00001
|
NM_001378454.1(ALMS1):c.10476T>G (p.Ser3492Arg)
|
rs1433521854
|
0.00001
|
NM_001378454.1(ALMS1):c.10493A>G (p.His3498Arg)
|
rs759463622
|
0.00001
|
NM_001378454.1(ALMS1):c.10497A>G (p.Glu3499=)
|
rs1674948697
|
0.00001
|
NM_001378454.1(ALMS1):c.10506A>G (p.Gly3502=)
|
rs1305325242
|
0.00001
|
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter)
|
rs1275113273
|
0.00001
|
NM_001378454.1(ALMS1):c.10526A>G (p.His3509Arg)
|
rs1674949532
|
0.00001
|
NM_001378454.1(ALMS1):c.10527T>G (p.His3509Gln)
|
rs1332733899
|
0.00001
|
NM_001378454.1(ALMS1):c.1052G>A (p.Arg351Gln)
|
rs563989825
|
0.00001
|
NM_001378454.1(ALMS1):c.10538A>T (p.Asp3513Val)
|
rs767343226
|
0.00001
|
NM_001378454.1(ALMS1):c.10545T>A (p.Phe3515Leu)
|
rs750147146
|
0.00001
|
NM_001378454.1(ALMS1):c.10573C>T (p.His3525Tyr)
|
rs778304579
|
0.00001
|
NM_001378454.1(ALMS1):c.10611G>A (p.Lys3537=)
|
rs1470146152
|
0.00001
|
NM_001378454.1(ALMS1):c.10625A>G (p.Tyr3542Cys)
|
rs761771973
|
0.00001
|
NM_001378454.1(ALMS1):c.10635A>G (p.Ile3545Met)
|
rs760321819
|
0.00001
|
NM_001378454.1(ALMS1):c.10723G>A (p.Gly3575Arg)
|
rs752099349
|
0.00001
|
NM_001378454.1(ALMS1):c.10738C>G (p.Pro3580Ala)
|
rs746126446
|
0.00001
|
NM_001378454.1(ALMS1):c.10750C>T (p.Gln3584Ter)
|
rs192823093
|
0.00001
|
NM_001378454.1(ALMS1):c.10772C>A (p.Thr3591Lys)
|
rs773091397
|
0.00001
|
NM_001378454.1(ALMS1):c.10803G>A (p.Leu3601=)
|
rs1246917834
|
0.00001
|
NM_001378454.1(ALMS1):c.10816C>T (p.Arg3606Trp)
|
rs1250097723
|
0.00001
|
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter)
|
rs1192396248
|
0.00001
|
NM_001378454.1(ALMS1):c.10854T>A (p.Gly3618=)
|
rs1460043103
|
0.00001
|
NM_001378454.1(ALMS1):c.10856A>G (p.Asp3619Gly)
|
rs779029779
|
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.10933C>T (p.Gln3645Ter)
|
rs1674967197
|
0.00001
|
NM_001378454.1(ALMS1):c.10947T>C (p.Ser3649=)
|
rs373024720
|
0.00001
|
NM_001378454.1(ALMS1):c.10962C>T (p.Ser3654=)
|
rs1674967989
|
0.00001
|
NM_001378454.1(ALMS1):c.10968G>C (p.Gly3656=)
|
rs1439789927
|
0.00001
|
NM_001378454.1(ALMS1):c.1096C>G (p.Gln366Glu)
|
rs887270267
|
0.00001
|
NM_001378454.1(ALMS1):c.10973G>A (p.Arg3658Gln)
|
rs781344338
|
0.00001
|
NM_001378454.1(ALMS1):c.11004G>A (p.Gln3668=)
|
rs761324500
|
0.00001
|
NM_001378454.1(ALMS1):c.11028G>A (p.Lys3676=)
|
rs1275803711
|
0.00001
|
NM_001378454.1(ALMS1):c.1104A>G (p.Ser368=)
|
rs1279010454
|
0.00001
|
NM_001378454.1(ALMS1):c.11064T>C (p.Asn3688=)
|
rs758563118
|
0.00001
|
NM_001378454.1(ALMS1):c.11071G>A (p.Glu3691Lys)
|
rs750422041
|
0.00001
|
NM_001378454.1(ALMS1):c.11073G>A (p.Glu3691=)
|
rs1421582809
|
0.00001
|
NM_001378454.1(ALMS1):c.11104C>A (p.Arg3702=)
|
rs747747269
|
0.00001
|
NM_001378454.1(ALMS1):c.11105G>A (p.Arg3702Gln)
|
rs188864796
|
0.00001
|
NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs)
|
rs398122992
|
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.11163G>C (p.Leu3721=)
|
rs563578298
|
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.11205G>A (p.Ser3735=)
|
rs368226507
|
0.00001
|
NM_001378454.1(ALMS1):c.11219C>T (p.Ser3740Leu)
|
rs948097402
|
0.00001
|
NM_001378454.1(ALMS1):c.11220A>G (p.Ser3740=)
|
rs1674977838
|
0.00001
|
NM_001378454.1(ALMS1):c.1126A>T (p.Thr376Ser)
|
rs376750978
|
0.00001
|
NM_001378454.1(ALMS1):c.1127C>G (p.Thr376Ser)
|
rs762682178
|
0.00001
|
NM_001378454.1(ALMS1):c.11284G>A (p.Glu3762Lys)
|
rs1243181452
|
0.00001
|
NM_001378454.1(ALMS1):c.11310T>C (p.Asp3770=)
|
rs1438099503
|
0.00001
|
NM_001378454.1(ALMS1):c.11393G>A (p.Arg3798Lys)
|
rs1006564458
|
0.00001
|
NM_001378454.1(ALMS1):c.11397A>G (p.Val3799=)
|
rs369063904
|
0.00001
|
NM_001378454.1(ALMS1):c.11400C>T (p.Cys3800=)
|
rs1215015585
|
0.00001
|
NM_001378454.1(ALMS1):c.11401T>A (p.Leu3801Met)
|
rs780494417
|
0.00001
|
NM_001378454.1(ALMS1):c.11424A>G (p.Leu3808=)
|
rs760607996
|
0.00001
|
NM_001378454.1(ALMS1):c.11440A>G (p.Asn3814Asp)
|
rs369256893
|
0.00001
|
NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter)
|
rs940576720
|
0.00001
|
NM_001378454.1(ALMS1):c.11457C>T (p.Tyr3819=)
|
rs373397289
|
0.00001
|
NM_001378454.1(ALMS1):c.11467C>T (p.Arg3823Trp)
|
rs17848868
|
0.00001
|
NM_001378454.1(ALMS1):c.11468G>A (p.Arg3823Gln)
|
rs377572047
|
0.00001
|
NM_001378454.1(ALMS1):c.11477A>G (p.His3826Arg)
|
rs371105298
|
0.00001
|
NM_001378454.1(ALMS1):c.11492T>G (p.Leu3831Arg)
|
rs777912782
|
0.00001
|
NM_001378454.1(ALMS1):c.11516C>T (p.Thr3839Ile)
|
rs376255515
|
0.00001
|
NM_001378454.1(ALMS1):c.11547+11A>G
|
rs1674988694
|
0.00001
|
NM_001378454.1(ALMS1):c.11547+13A>G
|
rs753246208
|
0.00001
|
NM_001378454.1(ALMS1):c.11547+4C>T
|
rs753353269
|
0.00001
|
NM_001378454.1(ALMS1):c.11548-5T>C
|
rs1239982754
|
0.00001
|
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn)
|
rs767078704
|
0.00001
|
NM_001378454.1(ALMS1):c.11554A>T (p.Asn3852Tyr)
|
rs753182165
|
0.00001
|
NM_001378454.1(ALMS1):c.11643C>T (p.His3881=)
|
rs1296746698
|
0.00001
|
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs)
|
rs760264695
|
0.00001
|
NM_001378454.1(ALMS1):c.11663A>G (p.Gln3888Arg)
|
rs1675626491
|
0.00001
|
NM_001378454.1(ALMS1):c.11668+1G>A
|
rs1181992959
|
0.00001
|
NM_001378454.1(ALMS1):c.11668+9T>C
|
rs1675626765
|
0.00001
|
NM_001378454.1(ALMS1):c.11669-12C>T
|
rs774970704
|
0.00001
|
NM_001378454.1(ALMS1):c.11669-14A>G
|
rs768036112
|
0.00001
|
NM_001378454.1(ALMS1):c.11669-1G>A
|
rs750737346
|
0.00001
|
NM_001378454.1(ALMS1):c.11669-1G>C
|
rs750737346
|
0.00001
|
NM_001378454.1(ALMS1):c.11669-8C>T
|
rs1220049600
|
0.00001
|
NM_001378454.1(ALMS1):c.11688C>T (p.Asn3896=)
|
rs202172921
|
0.00001
|
NM_001378454.1(ALMS1):c.11705C>G (p.Thr3902Ser)
|
rs369008610
|
0.00001
|
NM_001378454.1(ALMS1):c.11728C>G (p.Pro3910Ala)
|
rs761099182
|
0.00001
|
NM_001378454.1(ALMS1):c.11737A>C (p.Ser3913Arg)
|
rs776963509
|
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.1185G>A (p.Gly395=)
|
rs1450546722
|
0.00001
|
NM_001378454.1(ALMS1):c.11867A>T (p.His3956Leu)
|
rs553786370
|
0.00001
|
NM_001378454.1(ALMS1):c.11871A>C (p.Glu3957Asp)
|
rs1205653574
|
0.00001
|
NM_001378454.1(ALMS1):c.11872+9C>A
|
rs768886966
|
0.00001
|
NM_001378454.1(ALMS1):c.1188G>A (p.Gln396=)
|
rs368655814
|
0.00001
|
NM_001378454.1(ALMS1):c.1197A>G (p.Thr399=)
|
rs756136557
|
0.00001
|
NM_001378454.1(ALMS1):c.12299-2A>G
|
rs759788656
|
0.00001
|
NM_001378454.1(ALMS1):c.12299-6G>A
|
rs771317399
|
0.00001
|
NM_001378454.1(ALMS1):c.122T>C (p.Val41Ala)
|
rs1558624684
|
0.00001
|
NM_001378454.1(ALMS1):c.12312C>G (p.Ile4104Met)
|
rs761844893
|
0.00001
|
NM_001378454.1(ALMS1):c.12355T>G (p.Ser4119Ala)
|
rs372734481
|
0.00001
|
NM_001378454.1(ALMS1):c.1235C>T (p.Thr412Ile)
|
rs369637082
|
0.00001
|
NM_001378454.1(ALMS1):c.12362+5G>C
|
rs771226996
|
0.00001
|
NM_001378454.1(ALMS1):c.12362+7C>A
|
rs1257275977
|
0.00001
|
NM_001378454.1(ALMS1):c.12363-14G>A
|
rs377374398
|
0.00001
|
NM_001378454.1(ALMS1):c.12367T>G (p.Tyr4123Asp)
|
rs963466695
|
0.00001
|
NM_001378454.1(ALMS1):c.12425A>G (p.Tyr4142Cys)
|
rs775032572
|
0.00001
|
NM_001378454.1(ALMS1):c.12436C>T (p.Arg4146Trp)
|
rs763519566
|
0.00001
|
NM_001378454.1(ALMS1):c.12447C>T (p.Ala4149=)
|
rs374020124
|
0.00001
|
NM_001378454.1(ALMS1):c.12453A>G (p.Leu4151=)
|
rs749502767
|
0.00001
|
NM_001378454.1(ALMS1):c.12456T>C (p.Tyr4152=)
|
rs1348620586
|
0.00001
|
NM_001378454.1(ALMS1):c.12462+10T>C
|
rs748315200
|
0.00001
|
NM_001378454.1(ALMS1):c.12463-14C>G
|
rs766656843
|
0.00001
|
NM_001378454.1(ALMS1):c.12463-4A>G
|
rs755283383
|
0.00001
|
NM_001378454.1(ALMS1):c.12466G>T (p.Val4156Leu)
|
rs779259646
|
0.00001
|
NM_001378454.1(ALMS1):c.12473A>T (p.Asn4158Ile)
|
rs752828644
|
0.00001
|
NM_001378454.1(ALMS1):c.12483G>A (p.Leu4161=)
|
rs756592287
|
0.00001
|
NM_001378454.1(ALMS1):c.12496C>T (p.Pro4166Ser)
|
rs267599450
|
0.00001
|
NM_001378454.1(ALMS1):c.126C>T (p.Val42=)
|
rs766762252
|
0.00001
|
NM_001378454.1(ALMS1):c.1270A>G (p.Ile424Val)
|
rs775981299
|
0.00001
|
NM_001378454.1(ALMS1):c.1272T>C (p.Ile424=)
|
rs544932125
|
0.00001
|
NM_001378454.1(ALMS1):c.12G>C (p.Glu4Asp)
|
rs1260367236
|
0.00001
|
NM_001378454.1(ALMS1):c.1302T>C (p.Val434=)
|
rs1325950841
|
0.00001
|
NM_001378454.1(ALMS1):c.1329A>G (p.Leu443=)
|
rs1246412833
|
0.00001
|
NM_001378454.1(ALMS1):c.1338+10A>G
|
rs1430183145
|
0.00001
|
NM_001378454.1(ALMS1):c.1339-12G>T
|
rs1260375872
|
0.00001
|
NM_001378454.1(ALMS1):c.1345A>G (p.Arg449Gly)
|
rs777458464
|
0.00001
|
NM_001378454.1(ALMS1):c.1353G>A (p.Ser451=)
|
rs370873335
|
0.00001
|
NM_001378454.1(ALMS1):c.1354G>A (p.Glu452Lys)
|
rs1232628050
|
0.00001
|
NM_001378454.1(ALMS1):c.1368A>T (p.Ser456=)
|
rs1275741570
|
0.00001
|
NM_001378454.1(ALMS1):c.1381T>C (p.Leu461=)
|
rs935279576
|
0.00001
|
NM_001378454.1(ALMS1):c.1386G>A (p.Arg462=)
|
rs749794703
|
0.00001
|
NM_001378454.1(ALMS1):c.1402G>C (p.Val468Leu)
|
rs1409680993
|
0.00001
|
NM_001378454.1(ALMS1):c.1423T>C (p.Leu475=)
|
rs1313456848
|
0.00001
|
NM_001378454.1(ALMS1):c.1425A>G (p.Leu475=)
|
rs767100210
|
0.00001
|
NM_001378454.1(ALMS1):c.142G>A (p.Glu48Lys)
|
rs751415466
|
0.00001
|
NM_001378454.1(ALMS1):c.1432+5G>A
|
rs755613962
|
0.00001
|
NM_001378454.1(ALMS1):c.1432+7A>G
|
rs1468328132
|
0.00001
|
NM_001378454.1(ALMS1):c.1437C>T (p.Asp479=)
|
rs372610345
|
0.00001
|
NM_001378454.1(ALMS1):c.1449A>G (p.Gly483=)
|
rs753352047
|
0.00001
|
NM_001378454.1(ALMS1):c.1452C>T (p.Gly484=)
|
rs758794145
|
0.00001
|
NM_001378454.1(ALMS1):c.145G>A (p.Glu49Lys)
|
rs1476182899
|
0.00001
|
NM_001378454.1(ALMS1):c.1508A>G (p.Asp503Gly)
|
rs771835386
|
0.00001
|
NM_001378454.1(ALMS1):c.150G>T (p.Ala50=)
|
rs757262099
|
0.00001
|
NM_001378454.1(ALMS1):c.1517T>C (p.Ile506Thr)
|
rs976096963
|
0.00001
|
NM_001378454.1(ALMS1):c.1521A>C (p.Gly507=)
|
rs760374410
|
0.00001
|
NM_001378454.1(ALMS1):c.1533C>T (p.Ser511=)
|
rs753538515
|
0.00001
|
NM_001378454.1(ALMS1):c.1588A>G (p.Thr530Ala)
|
rs778268073
|
0.00001
|
NM_001378454.1(ALMS1):c.159G>C (p.Glu53Asp)
|
rs1245177160
|
0.00001
|
NM_001378454.1(ALMS1):c.1617A>G (p.Gln539=)
|
rs1483766765
|
0.00001
|
NM_001378454.1(ALMS1):c.162G>A (p.Leu54=)
|
rs1313030064
|
0.00001
|
NM_001378454.1(ALMS1):c.1636C>T (p.His546Tyr)
|
rs1671845179
|
0.00001
|
NM_001378454.1(ALMS1):c.1639C>G (p.Leu547Val)
|
rs1451493287
|
0.00001
|
NM_001378454.1(ALMS1):c.1645G>C (p.Glu549Gln)
|
rs1203221115
|
0.00001
|
NM_001378454.1(ALMS1):c.1653T>C (p.Thr551=)
|
rs1280098713
|
0.00001
|
NM_001378454.1(ALMS1):c.1707A>G (p.Thr569=)
|
rs752130351
|
0.00001
|
NM_001378454.1(ALMS1):c.1717A>G (p.Ser573Gly)
|
rs143478466
|
0.00001
|
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs)
|
rs777476179
|
0.00001
|
NM_001378454.1(ALMS1):c.1734G>A (p.Arg578=)
|
rs1027908105
|
0.00001
|
NM_001378454.1(ALMS1):c.173C>G (p.Ser58Cys)
|
rs748571359
|
0.00001
|
NM_001378454.1(ALMS1):c.1758G>A (p.Gln586=)
|
rs377037998
|
0.00001
|
NM_001378454.1(ALMS1):c.1776T>C (p.Ser592=)
|
rs746995241
|
0.00001
|
NM_001378454.1(ALMS1):c.1809T>A (p.Ala603=)
|
rs1558647545
|
0.00001
|
NM_001378454.1(ALMS1):c.1854C>T (p.Thr618=)
|
rs1327400351
|
0.00001
|
NM_001378454.1(ALMS1):c.1855T>C (p.Ser619Pro)
|
rs921968387
|
0.00001
|
NM_001378454.1(ALMS1):c.1859C>A (p.Thr620Asn)
|
rs1447523847
|
0.00001
|
NM_001378454.1(ALMS1):c.1863C>A (p.Ser621=)
|
rs1415449725
|
0.00001
|
NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys)
|
rs193922693
|
0.00001
|
NM_001378454.1(ALMS1):c.1866C>T (p.Tyr622=)
|
rs1474922476
|
0.00001
|
NM_001378454.1(ALMS1):c.1926C>T (p.Thr642=)
|
rs745591025
|
0.00001
|
NM_001378454.1(ALMS1):c.1927G>A (p.Glu643Lys)
|
rs769734500
|
0.00001
|
NM_001378454.1(ALMS1):c.1962A>G (p.Pro654=)
|
rs1572931748
|
0.00001
|
NM_001378454.1(ALMS1):c.200G>A (p.Ser67Asn)
|
rs776932244
|
0.00001
|
NM_001378454.1(ALMS1):c.2049G>A (p.Leu683=)
|
rs1572931934
|
0.00001
|
NM_001378454.1(ALMS1):c.2079G>C (p.Leu693=)
|
rs1320005523
|
0.00001
|
NM_001378454.1(ALMS1):c.2082A>G (p.Lys694=)
|
rs1221929641
|
0.00001
|
NM_001378454.1(ALMS1):c.2087C>A (p.Ser696Ter)
|
rs1490504758
|
0.00001
|
NM_001378454.1(ALMS1):c.211G>A (p.Glu71Lys)
|
rs757131983
|
0.00001
|
NM_001378454.1(ALMS1):c.2121G>A (p.Gly707=)
|
rs878854997
|
0.00001
|
NM_001378454.1(ALMS1):c.2136C>T (p.Leu712=)
|
rs747504060
|
0.00001
|
NM_001378454.1(ALMS1):c.2138C>G (p.Ser713Cys)
|
rs771496254
|
0.00001
|
NM_001378454.1(ALMS1):c.2155A>G (p.Arg719Gly)
|
rs1446915143
|
0.00001
|
NM_001378454.1(ALMS1):c.2156G>A (p.Arg719Lys)
|
rs923816827
|
0.00001
|
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=)
|
rs572605877
|
0.00001
|
NM_001378454.1(ALMS1):c.2187G>A (p.Glu729=)
|
rs536950181
|
0.00001
|
NM_001378454.1(ALMS1):c.2191G>A (p.Ala731Thr)
|
rs1337404560
|
0.00001
|
NM_001378454.1(ALMS1):c.219C>G (p.Asp73Glu)
|
rs905373886
|
0.00001
|
NM_001378454.1(ALMS1):c.21A>T (p.Pro7=)
|
rs373614102
|
0.00001
|
NM_001378454.1(ALMS1):c.2236A>G (p.Thr746Ala)
|
rs1339477380
|
0.00001
|
NM_001378454.1(ALMS1):c.2271A>G (p.Pro757=)
|
rs770172498
|
0.00001
|
NM_001378454.1(ALMS1):c.2296C>A (p.Gln766Lys)
|
rs377000488
|
0.00001
|
NM_001378454.1(ALMS1):c.2322C>T (p.Tyr774=)
|
rs752503817
|
0.00001
|
NM_001378454.1(ALMS1):c.2348T>C (p.Leu783Pro)
|
rs1671866214
|
0.00001
|
NM_001378454.1(ALMS1):c.234C>T (p.Ala78=)
|
rs368947491
|
0.00001
|
NM_001378454.1(ALMS1):c.2394C>T (p.Asp798=)
|
rs749555689
|
0.00001
|
NM_001378454.1(ALMS1):c.2396A>G (p.Gln799Arg)
|
rs530083993
|
0.00001
|
NM_001378454.1(ALMS1):c.2400G>A (p.Lys800=)
|
rs748416864
|
0.00001
|
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala)
|
rs772260271
|
0.00001
|
NM_001378454.1(ALMS1):c.2443G>C (p.Glu815Gln)
|
rs370978261
|
0.00001
|
NM_001378454.1(ALMS1):c.244G>C (p.Ala82Pro)
|
rs1453391868
|
0.00001
|
NM_001378454.1(ALMS1):c.2454T>C (p.Leu818=)
|
rs1247367857
|
0.00001
|
NM_001378454.1(ALMS1):c.2463C>T (p.Tyr821=)
|
rs936723133
|
0.00001
|
NM_001378454.1(ALMS1):c.2464C>T (p.Gln822Ter)
|
rs568037602
|
0.00001
|
NM_001378454.1(ALMS1):c.2466A>G (p.Gln822=)
|
rs755661115
|
0.00001
|
NM_001378454.1(ALMS1):c.2472C>G (p.Ala824=)
|
rs368270850
|
0.00001
|
NM_001378454.1(ALMS1):c.2477T>G (p.Leu826Arg)
|
rs1343407616
|
0.00001
|
NM_001378454.1(ALMS1):c.2481C>T (p.Asp827=)
|
rs748371743
|
0.00001
|
NM_001378454.1(ALMS1):c.2517T>G (p.Ala839=)
|
rs765949316
|
0.00001
|
NM_001378454.1(ALMS1):c.2521T>C (p.Ser841Pro)
|
rs949198387
|
0.00001
|
NM_001378454.1(ALMS1):c.2540A>G (p.Lys847Arg)
|
rs374788400
|
0.00001
|
NM_001378454.1(ALMS1):c.2542A>G (p.Thr848Ala)
|
rs777811953
|
0.00001
|
NM_001378454.1(ALMS1):c.2547G>T (p.Gly849=)
|
rs1469851023
|
0.00001
|
NM_001378454.1(ALMS1):c.2562C>T (p.Thr854=)
|
rs1224727067
|
0.00001
|
NM_001378454.1(ALMS1):c.2576C>T (p.Ala859Val)
|
rs749219852
|
0.00001
|
NM_001378454.1(ALMS1):c.2598G>A (p.Lys866=)
|
rs760421159
|
0.00001
|
NM_001378454.1(ALMS1):c.25C>T (p.Pro9Ser)
|
rs769538172
|
0.00001
|
NM_001378454.1(ALMS1):c.2636A>G (p.His879Arg)
|
rs1671873298
|
0.00001
|
NM_001378454.1(ALMS1):c.266C>T (p.Pro89Leu)
|
rs989191437
|
0.00001
|
NM_001378454.1(ALMS1):c.2676A>G (p.Gly892=)
|
rs745887923
|
0.00001
|
NM_001378454.1(ALMS1):c.2683G>A (p.Asp895Asn)
|
rs756206965
|
0.00001
|
NM_001378454.1(ALMS1):c.2713T>A (p.Ser905Thr)
|
rs1473358206
|
0.00001
|
NM_001378454.1(ALMS1):c.2743A>G (p.Ile915Val)
|
rs200704524
|
0.00001
|
NM_001378454.1(ALMS1):c.2756A>C (p.Gln919Pro)
|
rs751883638
|
0.00001
|
NM_001378454.1(ALMS1):c.27G>C (p.Pro9=)
|
rs1283224132
|
0.00001
|
NM_001378454.1(ALMS1):c.2818T>C (p.Leu940=)
|
rs1354122111
|
0.00001
|
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter)
|
rs539612316
|
0.00001
|
NM_001378454.1(ALMS1):c.282G>C (p.Pro94=)
|
rs764095354
|
0.00001
|
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter)
|
rs750326619
|
0.00001
|
NM_001378454.1(ALMS1):c.2840C>T (p.Thr947Ile)
|
rs576877900
|
0.00001
|
NM_001378454.1(ALMS1):c.2872A>T (p.Ser958Cys)
|
rs1259661145
|
0.00001
|
NM_001378454.1(ALMS1):c.28G>A (p.Gly10Ser)
|
rs1045405319
|
0.00001
|
NM_001378454.1(ALMS1):c.2990C>T (p.Thr997Ile)
|
rs1240072348
|
0.00001
|
NM_001378454.1(ALMS1):c.2992G>A (p.Val998Ile)
|
rs374849950
|
0.00001
|
NM_001378454.1(ALMS1):c.3009C>T (p.Phe1003=)
|
rs1572933379
|
0.00001
|
NM_001378454.1(ALMS1):c.3016dup (p.Arg1006fs)
|
rs878854998
|
0.00001
|
NM_001378454.1(ALMS1):c.3029G>A (p.Ser1010Asn)
|
rs1448665150
|
0.00001
|
NM_001378454.1(ALMS1):c.3062A>T (p.Tyr1021Phe)
|
rs574757598
|
0.00001
|
NM_001378454.1(ALMS1):c.3064G>T (p.Ala1022Ser)
|
rs1267229357
|
0.00001
|
NM_001378454.1(ALMS1):c.308G>T (p.Arg103Leu)
|
rs1574424130
|
0.00001
|
NM_001378454.1(ALMS1):c.3153A>C (p.Pro1051=)
|
rs1392773390
|
0.00001
|
NM_001378454.1(ALMS1):c.316C>T (p.Leu106=)
|
rs1442317986
|
0.00001
|
NM_001378454.1(ALMS1):c.321G>A (p.Glu107=)
|
rs1307758613
|
0.00001
|
NM_001378454.1(ALMS1):c.3234C>G (p.Ala1078=)
|
rs771305195
|
0.00001
|
NM_001378454.1(ALMS1):c.323A>G (p.Lys108Arg)
|
rs1046964700
|
0.00001
|
NM_001378454.1(ALMS1):c.324+10G>C
|
rs778690416
|
0.00001
|
NM_001378454.1(ALMS1):c.324+15G>C
|
rs1670526210
|
0.00001
|
NM_001378454.1(ALMS1):c.3246A>G (p.Pro1082=)
|
rs532389598
|
0.00001
|
NM_001378454.1(ALMS1):c.325-6T>C
|
rs760582213
|
0.00001
|
NM_001378454.1(ALMS1):c.325-8A>G
|
rs200740825
|
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.3268C>G (p.Pro1090Ala)
|
rs376232524
|
0.00001
|
NM_001378454.1(ALMS1):c.3272C>T (p.Ala1091Val)
|
rs1402063104
|
0.00001
|
NM_001378454.1(ALMS1):c.3279G>A (p.Pro1093=)
|
rs751312971
|
0.00001
|
NM_001378454.1(ALMS1):c.3291C>T (p.Tyr1097=)
|
rs933667520
|
0.00001
|
NM_001378454.1(ALMS1):c.3310G>A (p.Gly1104Ser)
|
rs868703237
|
0.00001
|
NM_001378454.1(ALMS1):c.3324A>G (p.Gln1108=)
|
rs780391682
|
0.00001
|
NM_001378454.1(ALMS1):c.3336A>G (p.Pro1112=)
|
rs774634872
|
0.00001
|
NM_001378454.1(ALMS1):c.333A>G (p.Pro111=)
|
rs1190737675
|
0.00001
|
NM_001378454.1(ALMS1):c.3352A>G (p.Lys1118Glu)
|
rs770713526
|
0.00001
|
NM_001378454.1(ALMS1):c.3373G>T (p.Val1125Leu)
|
rs1180431442
|
0.00001
|
NM_001378454.1(ALMS1):c.3407C>T (p.Thr1136Ile)
|
rs756805885
|
0.00001
|
NM_001378454.1(ALMS1):c.341G>T (p.Cys114Phe)
|
rs1052797474
|
0.00001
|
NM_001378454.1(ALMS1):c.3450G>A (p.Lys1150=)
|
rs373926995
|
0.00001
|
NM_001378454.1(ALMS1):c.3472G>A (p.Ala1158Thr)
|
rs376302473
|
0.00001
|
NM_001378454.1(ALMS1):c.3514T>A (p.Ser1172Thr)
|
rs756748918
|
0.00001
|
NM_001378454.1(ALMS1):c.3563T>C (p.Leu1188Pro)
|
rs745802005
|
0.00001
|
NM_001378454.1(ALMS1):c.3576C>G (p.Tyr1192Ter)
|
rs1671899045
|
0.00001
|
NM_001378454.1(ALMS1):c.3582A>G (p.Gln1194=)
|
rs768478218
|
0.00001
|
NM_001378454.1(ALMS1):c.35_36insCGAGGAGGAGGA (p.Glu28_Ala29insGluGluGluGlu)
|
rs764804760
|
0.00001
|
NM_001378454.1(ALMS1):c.3605A>G (p.Tyr1202Cys)
|
rs772706904
|
0.00001
|
NM_001378454.1(ALMS1):c.360_363dup (p.Tyr122fs)
|
rs753301358
|
0.00001
|
NM_001378454.1(ALMS1):c.3623G>A (p.Gly1208Asp)
|
rs765685207
|
0.00001
|
NM_001378454.1(ALMS1):c.3649A>T (p.Lys1217Ter)
|
rs779928593
|
0.00001
|
NM_001378454.1(ALMS1):c.365A>G (p.Tyr122Cys)
|
rs757838184
|
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.3696A>G (p.Pro1232=)
|
rs766030249
|
0.00001
|
NM_001378454.1(ALMS1):c.3700C>T (p.Pro1234Ser)
|
rs777259139
|
0.00001
|
NM_001378454.1(ALMS1):c.3717C>T (p.Tyr1239=)
|
rs1435076239
|
0.00001
|
NM_001378454.1(ALMS1):c.3749A>G (p.Gln1250Arg)
|
rs1332453858
|
0.00001
|
NM_001378454.1(ALMS1):c.3764A>G (p.Asp1255Gly)
|
rs773586990
|
0.00001
|
NM_001378454.1(ALMS1):c.3770A>G (p.His1257Arg)
|
rs770555189
|
0.00001
|
NM_001378454.1(ALMS1):c.3879C>G (p.Pro1293=)
|
rs758192739
|
0.00001
|
NM_001378454.1(ALMS1):c.3900G>A (p.Ser1300=)
|
rs1480882041
|
0.00001
|
NM_001378454.1(ALMS1):c.3914A>G (p.His1305Arg)
|
rs1394932968
|
0.00001
|
NM_001378454.1(ALMS1):c.3921T>C (p.Thr1307=)
|
rs948851454
|
0.00001
|
NM_001378454.1(ALMS1):c.392C>A (p.Ser131Tyr)
|
rs756453260
|
0.00001
|
NM_001378454.1(ALMS1):c.3930T>C (p.Ala1310=)
|
rs1558649057
|
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.402T>C (p.Asn134=)
|
rs1240872723
|
0.00001
|
NM_001378454.1(ALMS1):c.4057C>A (p.Pro1353Thr)
|
rs1005994594
|
0.00001
|
NM_001378454.1(ALMS1):c.4098A>G (p.Pro1366=)
|
rs772462489
|
0.00001
|
NM_001378454.1(ALMS1):c.4115G>A (p.Gly1372Asp)
|
rs1439442789
|
0.00001
|
NM_001378454.1(ALMS1):c.4163C>T (p.Pro1388Leu)
|
rs377354387
|
0.00001
|
NM_001378454.1(ALMS1):c.4176C>T (p.Tyr1392=)
|
rs772411117
|
0.00001
|
NM_001378454.1(ALMS1):c.417A>G (p.Glu139=)
|
rs1671018870
|
0.00001
|
NM_001378454.1(ALMS1):c.4180C>T (p.Gln1394Ter)
|
rs969786171
|
0.00001
|
NM_001378454.1(ALMS1):c.4181A>G (p.Gln1394Arg)
|
rs368955191
|
0.00001
|
NM_001378454.1(ALMS1):c.4230G>A (p.Ala1410=)
|
rs546247768
|
0.00001
|
NM_001378454.1(ALMS1):c.4254G>A (p.Lys1418=)
|
rs1409007880
|
0.00001
|
NM_001378454.1(ALMS1):c.430C>T (p.Arg144Trp)
|
rs748293128
|
0.00001
|
NM_001378454.1(ALMS1):c.4360G>C (p.Glu1454Gln)
|
rs768816557
|
0.00001
|
NM_001378454.1(ALMS1):c.4370T>C (p.Val1457Ala)
|
rs1671922685
|
0.00001
|
NM_001378454.1(ALMS1):c.4379G>T (p.Gly1460Val)
|
rs776345925
|
0.00001
|
NM_001378454.1(ALMS1):c.4398T>A (p.Ile1466=)
|
rs762342999
|
0.00001
|
NM_001378454.1(ALMS1):c.442G>A (p.Asp148Asn)
|
rs757606922
|
0.00001
|
NM_001378454.1(ALMS1):c.4430C>T (p.Ser1477Leu)
|
rs794727926
|
0.00001
|
NM_001378454.1(ALMS1):c.4450G>A (p.Val1484Ile)
|
rs779113815
|
0.00001
|
NM_001378454.1(ALMS1):c.4454T>C (p.Ile1485Thr)
|
rs564400636
|
0.00001
|
NM_001378454.1(ALMS1):c.4470T>C (p.Phe1490=)
|
rs776573127
|
0.00001
|
NM_001378454.1(ALMS1):c.4476G>T (p.Glu1492Asp)
|
rs745623990
|
0.00001
|
NM_001378454.1(ALMS1):c.450+16C>T
|
rs1443506357
|
0.00001
|
NM_001378454.1(ALMS1):c.450+3A>G
|
rs1371008925
|
0.00001
|
NM_001378454.1(ALMS1):c.451-19T>C
|
rs768590349
|
0.00001
|
NM_001378454.1(ALMS1):c.4516C>T (p.Pro1506Ser)
|
rs1233912426
|
0.00001
|
NM_001378454.1(ALMS1):c.4536A>G (p.Thr1512=)
|
rs972719043
|
0.00001
|
NM_001378454.1(ALMS1):c.4544del (p.Ala1515fs)
|
rs745461983
|
0.00001
|
NM_001378454.1(ALMS1):c.4571C>G (p.Ser1524Ter)
|
rs1558649531
|
0.00001
|
NM_001378454.1(ALMS1):c.4584A>C (p.Ala1528=)
|
rs1463648060
|
0.00001
|
NM_001378454.1(ALMS1):c.4610C>A (p.Ala1537Glu)
|
rs766908325
|
0.00001
|
NM_001378454.1(ALMS1):c.4615C>T (p.Leu1539=)
|
rs754001171
|
0.00001
|
NM_001378454.1(ALMS1):c.4616T>C (p.Leu1539Pro)
|
rs368273962
|
0.00001
|
NM_001378454.1(ALMS1):c.4643T>C (p.Leu1548Pro)
|
rs745859143
|
0.00001
|
NM_001378454.1(ALMS1):c.465G>C (p.Trp155Cys)
|
rs1414087888
|
0.00001
|
NM_001378454.1(ALMS1):c.466C>T (p.His156Tyr)
|
rs750004908
|
0.00001
|
NM_001378454.1(ALMS1):c.4691C>A (p.Pro1564Gln)
|
rs773841585
|
0.00001
|
NM_001378454.1(ALMS1):c.4691C>G (p.Pro1564Arg)
|
rs773841585
|
0.00001
|
NM_001378454.1(ALMS1):c.4709C>T (p.Ser1570Phe)
|
rs765461259
|
0.00001
|
NM_001378454.1(ALMS1):c.474T>G (p.Leu158=)
|
rs1671237121
|
0.00001
|
NM_001378454.1(ALMS1):c.4765C>A (p.His1589Asn)
|
rs771703863
|
0.00001
|
NM_001378454.1(ALMS1):c.4770A>G (p.Leu1590=)
|
rs772781647
|
0.00001
|
NM_001378454.1(ALMS1):c.4788A>C (p.Lys1596Asn)
|
rs925686650
|
0.00001
|
NM_001378454.1(ALMS1):c.4789G>A (p.Val1597Ile)
|
rs759914299
|
0.00001
|
NM_001378454.1(ALMS1):c.4824T>G (p.Thr1608=)
|
rs368170757
|
0.00001
|
NM_001378454.1(ALMS1):c.4827C>T (p.Asp1609=)
|
rs371708421
|
0.00001
|
NM_001378454.1(ALMS1):c.485T>C (p.Met162Thr)
|
rs371903967
|
0.00001
|
NM_001378454.1(ALMS1):c.4888C>T (p.Gln1630Ter)
|
rs974309886
|
0.00001
|
NM_001378454.1(ALMS1):c.4924G>A (p.Val1642Met)
|
rs763324131
|
0.00001
|
NM_001378454.1(ALMS1):c.4942C>A (p.Pro1648Thr)
|
rs754804407
|
0.00001
|
NM_001378454.1(ALMS1):c.4943C>G (p.Pro1648Arg)
|
rs372540975
|
0.00001
|
NM_001378454.1(ALMS1):c.4959G>A (p.Gln1653=)
|
rs577161825
|
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.4995C>T (p.Tyr1665=)
|
rs762003836
|
0.00001
|
NM_001378454.1(ALMS1):c.5017A>G (p.Ile1673Val)
|
rs773107767
|
0.00001
|
NM_001378454.1(ALMS1):c.5035C>G (p.Leu1679Val)
|
rs760829019
|
0.00001
|
NM_001378454.1(ALMS1):c.5042A>G (p.Asp1681Gly)
|
rs765044083
|
0.00001
|
NM_001378454.1(ALMS1):c.5054C>G (p.Pro1685Arg)
|
rs1671941104
|
0.00001
|
NM_001378454.1(ALMS1):c.5077C>T (p.Pro1693Ser)
|
rs1671941473
|
0.00001
|
NM_001378454.1(ALMS1):c.5079T>C (p.Pro1693=)
|
rs751254168
|
0.00001
|
NM_001378454.1(ALMS1):c.5084C>T (p.Pro1695Leu)
|
rs756796770
|
0.00001
|
NM_001378454.1(ALMS1):c.5121A>G (p.Val1707=)
|
rs1452302408
|
0.00001
|
NM_001378454.1(ALMS1):c.5124C>T (p.Ser1708=)
|
rs1172791139
|
0.00001
|
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)
|
rs772136379
|
0.00001
|
NM_001378454.1(ALMS1):c.5147A>G (p.Glu1716Gly)
|
rs760638961
|
0.00001
|
NM_001378454.1(ALMS1):c.516G>T (p.Gln172His)
|
rs767428243
|
0.00001
|
NM_001378454.1(ALMS1):c.5172G>C (p.Gln1724His)
|
rs1402153419
|
0.00001
|
NM_001378454.1(ALMS1):c.5173G>T (p.Ala1725Ser)
|
rs763052163
|
0.00001
|
NM_001378454.1(ALMS1):c.5179C>G (p.Pro1727Ala)
|
rs935844541
|
0.00001
|
NM_001378454.1(ALMS1):c.518C>T (p.Thr173Ile)
|
rs1163075641
|
0.00001
|
NM_001378454.1(ALMS1):c.5199A>G (p.Gln1733=)
|
rs374143515
|
0.00001
|
NM_001378454.1(ALMS1):c.519T>A (p.Thr173=)
|
rs749270228
|
0.00001
|
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala)
|
rs546111188
|
0.00001
|
NM_001378454.1(ALMS1):c.5253A>G (p.Leu1751=)
|
rs1212958211
|
0.00001
|
NM_001378454.1(ALMS1):c.5258C>T (p.Thr1753Ile)
|
rs954287768
|
0.00001
|
NM_001378454.1(ALMS1):c.5272T>G (p.Phe1758Val)
|
rs1179437667
|
0.00001
|
NM_001378454.1(ALMS1):c.5282A>T (p.His1761Leu)
|
rs760251120
|
0.00001
|
NM_001378454.1(ALMS1):c.5323G>C (p.Asp1775His)
|
rs747341054
|
0.00001
|
NM_001378454.1(ALMS1):c.5328T>C (p.Ser1776=)
|
rs745907642
|
0.00001
|
NM_001378454.1(ALMS1):c.5343G>C (p.Glu1781Asp)
|
rs1671948778
|
0.00001
|
NM_001378454.1(ALMS1):c.5348T>C (p.Leu1783Pro)
|
rs1188079304
|
0.00001
|
NM_001378454.1(ALMS1):c.5360A>T (p.Asn1787Ile)
|
rs1671949458
|
0.00001
|
NM_001378454.1(ALMS1):c.537G>A (p.Thr179=)
|
rs544125936
|
0.00001
|
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter)
|
rs759024519
|
0.00001
|
NM_001378454.1(ALMS1):c.5412T>C (p.Thr1804=)
|
rs1671951033
|
0.00001
|
NM_001378454.1(ALMS1):c.5425A>G (p.Arg1809Gly)
|
rs1257660889
|
0.00001
|
NM_001378454.1(ALMS1):c.5430G>A (p.Glu1810=)
|
rs781538261
|
0.00001
|
NM_001378454.1(ALMS1):c.543T>A (p.Asp181Glu)
|
rs1029393339
|
0.00001
|
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter)
|
rs749339938
|
0.00001
|
NM_001378454.1(ALMS1):c.546T>C (p.Thr182=)
|
rs771906516
|
0.00001
|
NM_001378454.1(ALMS1):c.5484G>T (p.Leu1828Phe)
|
rs376996058
|
0.00001
|
NM_001378454.1(ALMS1):c.5538G>T (p.Leu1846=)
|
rs768057574
|
0.00001
|
NM_001378454.1(ALMS1):c.5556A>G (p.Pro1852=)
|
rs372017680
|
0.00001
|
NM_001378454.1(ALMS1):c.5558A>G (p.Gln1853Arg)
|
rs574696548
|
0.00001
|
NM_001378454.1(ALMS1):c.556G>C (p.Asp186His)
|
rs1044951470
|
0.00001
|
NM_001378454.1(ALMS1):c.557A>C (p.Asp186Ala)
|
rs375830111
|
0.00001
|
NM_001378454.1(ALMS1):c.5608G>A (p.Glu1870Lys)
|
rs372714431
|
0.00001
|
NM_001378454.1(ALMS1):c.5615C>T (p.Thr1872Ile)
|
rs762339692
|
0.00001
|
NM_001378454.1(ALMS1):c.5625A>G (p.Ala1875=)
|
rs1214725052
|
0.00001
|
NM_001378454.1(ALMS1):c.565T>C (p.Ser189Pro)
|
rs760035952
|
0.00001
|
NM_001378454.1(ALMS1):c.5683T>A (p.Ser1895Thr)
|
rs1288519568
|
0.00001
|
NM_001378454.1(ALMS1):c.5727G>A (p.Glu1909=)
|
rs748955901
|
0.00001
|
NM_001378454.1(ALMS1):c.5758G>A (p.Val1920Ile)
|
rs373489525
|
0.00001
|
NM_001378454.1(ALMS1):c.5761T>G (p.Phe1921Val)
|
rs545488125
|
0.00001
|
NM_001378454.1(ALMS1):c.5767G>C (p.Val1923Leu)
|
rs772665115
|
0.00001
|
NM_001378454.1(ALMS1):c.5777A>G (p.Gln1926Arg)
|
rs376161519
|
0.00001
|
NM_001378454.1(ALMS1):c.5887G>A (p.Glu1963Lys)
|
rs45484791
|
0.00001
|
NM_001378454.1(ALMS1):c.588G>A (p.Thr196=)
|
rs1448744121
|
0.00001
|
NM_001378454.1(ALMS1):c.5891C>A (p.Ala1964Asp)
|
rs1196949061
|
0.00001
|
NM_001378454.1(ALMS1):c.5903C>G (p.Ser1968Ter)
|
rs1490127694
|
0.00001
|
NM_001378454.1(ALMS1):c.5905C>G (p.Pro1969Ala)
|
rs552496175
|
0.00001
|
NM_001378454.1(ALMS1):c.591A>G (p.Gln197=)
|
rs373438786
|
0.00001
|
NM_001378454.1(ALMS1):c.5921C>G (p.Ala1974Gly)
|
rs563067980
|
0.00001
|
NM_001378454.1(ALMS1):c.5937G>C (p.Gly1979=)
|
rs753533853
|
0.00001
|
NM_001378454.1(ALMS1):c.5956A>G (p.Ser1986Gly)
|
rs778684767
|
0.00001
|
NM_001378454.1(ALMS1):c.6003G>C (p.Val2001=)
|
rs765190182
|
0.00001
|
NM_001378454.1(ALMS1):c.6017A>G (p.Asp2006Gly)
|
rs1209226433
|
0.00001
|
NM_001378454.1(ALMS1):c.6020A>G (p.Gln2007Arg)
|
rs1047348249
|
0.00001
|
NM_001378454.1(ALMS1):c.6033T>G (p.Phe2011Leu)
|
rs1671969545
|
0.00001
|
NM_001378454.1(ALMS1):c.6049A>G (p.Ser2017Gly)
|
rs1021572525
|
0.00001
|
NM_001378454.1(ALMS1):c.6059C>T (p.Ser2020Leu)
|
rs372116790
|
0.00001
|
NM_001378454.1(ALMS1):c.6071A>C (p.Lys2024Thr)
|
rs369339997
|
0.00001
|
NM_001378454.1(ALMS1):c.6071A>G (p.Lys2024Arg)
|
rs369339997
|
0.00001
|
NM_001378454.1(ALMS1):c.6077A>G (p.Lys2026Arg)
|
rs367904732
|
0.00001
|
NM_001378454.1(ALMS1):c.6084A>G (p.Ser2028=)
|
rs776704483
|
0.00001
|
NM_001378454.1(ALMS1):c.6092T>C (p.Ile2031Thr)
|
rs374673974
|
0.00001
|
NM_001378454.1(ALMS1):c.6121C>G (p.Gln2041Glu)
|
rs780824087
|
0.00001
|
NM_001378454.1(ALMS1):c.6138T>G (p.Ser2046Arg)
|
rs780566681
|
0.00001
|
NM_001378454.1(ALMS1):c.6141C>G (p.Ser2047=)
|
rs960120562
|
0.00001
|
NM_001378454.1(ALMS1):c.6166A>G (p.Ile2056Val)
|
rs747108462
|
0.00001
|
NM_001378454.1(ALMS1):c.6177A>G (p.Gln2059=)
|
rs202168524
|
0.00001
|
NM_001378454.1(ALMS1):c.6190G>A (p.Asp2064Asn)
|
rs183773481
|
0.00001
|
NM_001378454.1(ALMS1):c.6199C>G (p.Gln2067Glu)
|
rs886042711
|
0.00001
|
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter)
|
rs771994237
|
0.00001
|
NM_001378454.1(ALMS1):c.61G>T (p.Glu21Ter)
|
rs1438410766
|
0.00001
|
NM_001378454.1(ALMS1):c.6201A>G (p.Gln2067=)
|
rs1422537312
|
0.00001
|
NM_001378454.1(ALMS1):c.6203G>C (p.Ser2068Thr)
|
rs749979595
|
0.00001
|
NM_001378454.1(ALMS1):c.6218A>G (p.Lys2073Arg)
|
rs1381524403
|
0.00001
|
NM_001378454.1(ALMS1):c.6219G>A (p.Lys2073=)
|
rs1383333428
|
0.00001
|
NM_001378454.1(ALMS1):c.6229G>A (p.Val2077Ile)
|
rs779402813
|
0.00001
|
NM_001378454.1(ALMS1):c.6243T>C (p.Thr2081=)
|
rs1034084163
|
0.00001
|
NM_001378454.1(ALMS1):c.6251A>G (p.Asn2084Ser)
|
rs771084714
|
0.00001
|
NM_001378454.1(ALMS1):c.6267A>C (p.Val2089=)
|
rs1357847945
|
0.00001
|
NM_001378454.1(ALMS1):c.6350A>G (p.Asp2117Gly)
|
rs1671977745
|
0.00001
|
NM_001378454.1(ALMS1):c.6359A>G (p.Lys2120Arg)
|
rs745919138
|
0.00001
|
NM_001378454.1(ALMS1):c.6415C>T (p.Pro2139Ser)
|
rs772858451
|
0.00001
|
NM_001378454.1(ALMS1):c.646+8C>G
|
rs760012033
|
0.00001
|
NM_001378454.1(ALMS1):c.647-5T>C
|
rs913268523
|
0.00001
|
NM_001378454.1(ALMS1):c.6477A>T (p.Arg2159Ser)
|
rs772943318
|
0.00001
|
NM_001378454.1(ALMS1):c.6478C>T (p.His2160Tyr)
|
rs1479606549
|
0.00001
|
NM_001378454.1(ALMS1):c.6483A>G (p.Leu2161=)
|
rs750552165
|
0.00001
|
NM_001378454.1(ALMS1):c.6495T>C (p.Ala2165=)
|
rs189124891
|
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.6525T>A (p.Ala2175=)
|
rs770611166
|
0.00001
|
NM_001378454.1(ALMS1):c.6529C>G (p.Gln2177Glu)
|
rs776108315
|
0.00001
|
NM_001378454.1(ALMS1):c.6538G>A (p.Gly2180Arg)
|
rs145953016
|
0.00001
|
NM_001378454.1(ALMS1):c.6552T>A (p.Val2184=)
|
rs1314059869
|
0.00001
|
NM_001378454.1(ALMS1):c.6563C>G (p.Thr2188Ser)
|
rs752016657
|
0.00001
|
NM_001378454.1(ALMS1):c.6584A>T (p.His2195Leu)
|
rs1671984408
|
0.00001
|
NM_001378454.1(ALMS1):c.6604G>A (p.Val2202Ile)
|
rs371544118
|
0.00001
|
NM_001378454.1(ALMS1):c.6620A>G (p.Asp2207Gly)
|
rs756953806
|
0.00001
|
NM_001378454.1(ALMS1):c.6629A>T (p.Asn2210Ile)
|
rs1026749292
|
0.00001
|
NM_001378454.1(ALMS1):c.6633T>G (p.Ser2211=)
|
rs745443498
|
0.00001
|
NM_001378454.1(ALMS1):c.6639C>G (p.Asp2213Glu)
|
rs769322538
|
0.00001
|
NM_001378454.1(ALMS1):c.6729T>C (p.Asp2243=)
|
rs745661762
|
0.00001
|
NM_001378454.1(ALMS1):c.6776T>C (p.Leu2259Pro)
|
rs768229118
|
0.00001
|
NM_001378454.1(ALMS1):c.6790A>G (p.Thr2264Ala)
|
rs772620985
|
0.00001
|
NM_001378454.1(ALMS1):c.6797T>A (p.Leu2266Ter)
|
rs761071372
|
0.00001
|
NM_001378454.1(ALMS1):c.6826C>T (p.Arg2276Ter)
|
rs1238145717
|
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.6838C>T (p.Pro2280Ser)
|
rs1273490920
|
0.00001
|
NM_001378454.1(ALMS1):c.6889T>A (p.Ser2297Thr)
|
rs771228376
|
0.00001
|
NM_001378454.1(ALMS1):c.6894G>A (p.Lys2298=)
|
rs776841349
|
0.00001
|
NM_001378454.1(ALMS1):c.6897G>A (p.Lys2299=)
|
rs1407961591
|
0.00001
|
NM_001378454.1(ALMS1):c.6902T>C (p.Val2301Ala)
|
rs759819986
|
0.00001
|
NM_001378454.1(ALMS1):c.6933A>G (p.Val2311=)
|
rs760397485
|
0.00001
|
NM_001378454.1(ALMS1):c.6966C>T (p.Phe2322=)
|
rs370287018
|
0.00001
|
NM_001378454.1(ALMS1):c.6991T>C (p.Cys2331Arg)
|
rs1060500038
|
0.00001
|
NM_001378454.1(ALMS1):c.7005T>C (p.Asp2335=)
|
rs781592497
|
0.00001
|
NM_001378454.1(ALMS1):c.7079G>C (p.Arg2360Thr)
|
rs1402057300
|
0.00001
|
NM_001378454.1(ALMS1):c.7089A>G (p.Leu2363=)
|
rs751020257
|
0.00001
|
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter)
|
rs989080548
|
0.00001
|
NM_001378454.1(ALMS1):c.7122A>G (p.Leu2374=)
|
rs780149631
|
0.00001
|
NM_001378454.1(ALMS1):c.7125A>G (p.Glu2375=)
|
rs1043215081
|
0.00001
|
NM_001378454.1(ALMS1):c.7128A>G (p.Glu2376=)
|
rs1671997943
|
0.00001
|
NM_001378454.1(ALMS1):c.7165A>C (p.Arg2389=)
|
rs765016221
|
0.00001
|
NM_001378454.1(ALMS1):c.7172A>T (p.Glu2391Val)
|
rs368310126
|
0.00001
|
NM_001378454.1(ALMS1):c.7217C>T (p.Pro2406Leu)
|
rs1481573722
|
0.00001
|
NM_001378454.1(ALMS1):c.7226C>G (p.Thr2409Ser)
|
rs866357733
|
0.00001
|
NM_001378454.1(ALMS1):c.7257C>T (p.Ala2419=)
|
rs1476708147
|
0.00001
|
NM_001378454.1(ALMS1):c.72G>A (p.Glu24=)
|
rs1483677896
|
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.7404T>A (p.Ser2468Arg)
|
rs749127545
|
0.00001
|
NM_001378454.1(ALMS1):c.7411G>A (p.Gly2471Ser)
|
rs1019293474
|
0.00001
|
NM_001378454.1(ALMS1):c.7426G>A (p.Val2476Ile)
|
rs772752104
|
0.00001
|
NM_001378454.1(ALMS1):c.7433C>G (p.Ser2478Ter)
|
rs1303829798
|
0.00001
|
NM_001378454.1(ALMS1):c.7447G>A (p.Val2483Met)
|
rs754242152
|
0.00001
|
NM_001378454.1(ALMS1):c.7488T>C (p.Ala2496=)
|
rs778108392
|
0.00001
|
NM_001378454.1(ALMS1):c.7500C>T (p.Leu2500=)
|
rs751719112
|
0.00001
|
NM_001378454.1(ALMS1):c.7526G>A (p.Arg2509Gln)
|
rs551433143
|
0.00001
|
NM_001378454.1(ALMS1):c.753_754insA (p.Ala252fs)
|
rs748892226
|
0.00001
|
NM_001378454.1(ALMS1):c.7540+17A>G
|
rs760021552
|
0.00001
|
NM_001378454.1(ALMS1):c.7541-15A>G
|
rs1169514054
|
0.00001
|
NM_001378454.1(ALMS1):c.7559A>G (p.Asn2520Ser)
|
rs377085127
|
0.00001
|
NM_001378454.1(ALMS1):c.7568A>G (p.His2523Arg)
|
rs763422515
|
0.00001
|
NM_001378454.1(ALMS1):c.764+14T>C
|
rs1553400457
|
0.00001
|
NM_001378454.1(ALMS1):c.764+4G>A
|
rs1167438151
|
0.00001
|
NM_001378454.1(ALMS1):c.765-10A>G
|
rs568327363
|
0.00001
|
NM_001378454.1(ALMS1):c.765-16A>G
|
rs765256601
|
0.00001
|
NM_001378454.1(ALMS1):c.765-4T>C
|
rs1671338808
|
0.00001
|
NM_001378454.1(ALMS1):c.7675-2A>G
|
rs748477695
|
0.00001
|
NM_001378454.1(ALMS1):c.7692G>C (p.Arg2564=)
|
rs763958360
|
0.00001
|
NM_001378454.1(ALMS1):c.7697T>C (p.Met2566Thr)
|
rs373385088
|
0.00001
|
NM_001378454.1(ALMS1):c.7700G>T (p.Gly2567Val)
|
rs199831059
|
0.00001
|
NM_001378454.1(ALMS1):c.7714G>A (p.Ala2572Thr)
|
rs1171656515
|
0.00001
|
NM_001378454.1(ALMS1):c.7728C>T (p.His2576=)
|
rs779295714
|
0.00001
|
NM_001378454.1(ALMS1):c.7743C>T (p.Ser2581=)
|
rs370740871
|
0.00001
|
NM_001378454.1(ALMS1):c.7746T>C (p.His2582=)
|
rs1221650688
|
0.00001
|
NM_001378454.1(ALMS1):c.776A>G (p.Asp259Gly)
|
rs369122370
|
0.00001
|
NM_001378454.1(ALMS1):c.7780C>T (p.His2594Tyr)
|
rs754585700
|
0.00001
|
NM_001378454.1(ALMS1):c.7785A>G (p.Pro2595=)
|
rs764864303
|
0.00001
|
NM_001378454.1(ALMS1):c.7788A>C (p.Gln2596His)
|
rs752127434
|
0.00001
|
NM_001378454.1(ALMS1):c.7791A>G (p.Leu2597=)
|
rs45624944
|
0.00001
|
NM_001378454.1(ALMS1):c.7803T>C (p.Pro2601=)
|
rs1296333400
|
0.00001
|
NM_001378454.1(ALMS1):c.7821T>C (p.Ala2607=)
|
rs1034500469
|
0.00001
|
NM_001378454.1(ALMS1):c.7840A>G (p.Arg2614Gly)
|
rs769890820
|
0.00001
|
NM_001378454.1(ALMS1):c.7850A>G (p.Gln2617Arg)
|
rs749293224
|
0.00001
|
NM_001378454.1(ALMS1):c.7883A>G (p.Asn2628Ser)
|
rs776280658
|
0.00001
|
NM_001378454.1(ALMS1):c.7917T>C (p.His2639=)
|
rs1672938733
|
0.00001
|
NM_001378454.1(ALMS1):c.7926T>C (p.Val2642=)
|
rs749406009
|
0.00001
|
NM_001378454.1(ALMS1):c.7944A>G (p.Leu2648=)
|
rs1407932856
|
0.00001
|
NM_001378454.1(ALMS1):c.795A>G (p.Glu265=)
|
rs1232647931
|
0.00001
|
NM_001378454.1(ALMS1):c.8019T>C (p.Asp2673=)
|
rs1205311372
|
0.00001
|
NM_001378454.1(ALMS1):c.8031C>A (p.Asp2677Glu)
|
rs754078506
|
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.8117A>G (p.Glu2706Gly)
|
rs768090632
|
0.00001
|
NM_001378454.1(ALMS1):c.8138C>T (p.Thr2713Ile)
|
rs1672944551
|
0.00001
|
NM_001378454.1(ALMS1):c.8140T>C (p.Ser2714Pro)
|
rs1245467740
|
0.00001
|
NM_001378454.1(ALMS1):c.8162G>A (p.Arg2721Gln)
|
rs745857579
|
0.00001
|
NM_001378454.1(ALMS1):c.8172A>G (p.Lys2724=)
|
rs1672945488
|
0.00001
|
NM_001378454.1(ALMS1):c.8195T>C (p.Val2732Ala)
|
rs200859630
|
0.00001
|
NM_001378454.1(ALMS1):c.8239G>T (p.Val2747Leu)
|
rs878855002
|
0.00001
|
NM_001378454.1(ALMS1):c.8283C>T (p.Pro2761=)
|
rs1458822343
|
0.00001
|
NM_001378454.1(ALMS1):c.828T>C (p.Ala276=)
|
rs760408197
|
0.00001
|
NM_001378454.1(ALMS1):c.837G>A (p.Gln279=)
|
rs766179893
|
0.00001
|
NM_001378454.1(ALMS1):c.8420A>C (p.Gln2807Pro)
|
rs768782274
|
0.00001
|
NM_001378454.1(ALMS1):c.8421A>G (p.Gln2807=)
|
rs774574310
|
0.00001
|
NM_001378454.1(ALMS1):c.8423A>G (p.Glu2808Gly)
|
rs1255060538
|
0.00001
|
NM_001378454.1(ALMS1):c.8430A>G (p.Lys2810=)
|
rs1483404753
|
0.00001
|
NM_001378454.1(ALMS1):c.8436A>G (p.Leu2812=)
|
rs1672953527
|
0.00001
|
NM_001378454.1(ALMS1):c.843T>A (p.Thr281=)
|
rs1221377566
|
0.00001
|
NM_001378454.1(ALMS1):c.846A>C (p.Ala282=)
|
rs753487338
|
0.00001
|
NM_001378454.1(ALMS1):c.847G>C (p.Glu283Gln)
|
rs780066739
|
0.00001
|
NM_001378454.1(ALMS1):c.8483C>A (p.Ala2828Glu)
|
rs751296181
|
0.00001
|
NM_001378454.1(ALMS1):c.8488T>A (p.Cys2830Ser)
|
rs993209212
|
0.00001
|
NM_001378454.1(ALMS1):c.8541G>T (p.Met2847Ile)
|
rs1183007080
|
0.00001
|
NM_001378454.1(ALMS1):c.8560C>G (p.Leu2854Val)
|
rs765176591
|
0.00001
|
NM_001378454.1(ALMS1):c.8565A>C (p.Gly2855=)
|
rs775435481
|
0.00001
|
NM_001378454.1(ALMS1):c.858A>G (p.Ser286=)
|
rs748158586
|
0.00001
|
NM_001378454.1(ALMS1):c.8622A>G (p.Pro2874=)
|
rs748474795
|
0.00001
|
NM_001378454.1(ALMS1):c.8625T>C (p.Asp2875=)
|
rs1403743198
|
0.00001
|
NM_001378454.1(ALMS1):c.8638A>G (p.Ile2880Val)
|
rs767384464
|
0.00001
|
NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter)
|
rs776563011
|
0.00001
|
NM_001378454.1(ALMS1):c.8654G>A (p.Arg2885Gln)
|
rs185447739
|
0.00001
|
NM_001378454.1(ALMS1):c.8655A>C (p.Arg2885=)
|
rs377249623
|
0.00001
|
NM_001378454.1(ALMS1):c.8655A>G (p.Arg2885=)
|
rs377249623
|
0.00001
|
NM_001378454.1(ALMS1):c.8673C>A (p.Ser2891Arg)
|
rs755823751
|
0.00001
|
NM_001378454.1(ALMS1):c.8686G>A (p.Ala2896Thr)
|
rs779240181
|
0.00001
|
NM_001378454.1(ALMS1):c.8688A>G (p.Ala2896=)
|
rs1338132238
|
0.00001
|
NM_001378454.1(ALMS1):c.8691T>C (p.Asp2897=)
|
rs1446635577
|
0.00001
|
NM_001378454.1(ALMS1):c.8723C>T (p.Pro2908Leu)
|
rs537639125
|
0.00001
|
NM_001378454.1(ALMS1):c.8727A>G (p.Gln2909=)
|
rs1258151977
|
0.00001
|
NM_001378454.1(ALMS1):c.873T>G (p.Ser291Arg)
|
rs747529881
|
0.00001
|
NM_001378454.1(ALMS1):c.8758T>C (p.Ser2920Pro)
|
rs1398652795
|
0.00001
|
NM_001378454.1(ALMS1):c.8794C>G (p.Gln2932Glu)
|
rs757528252
|
0.00001
|
NM_001378454.1(ALMS1):c.87T>C (p.Ala29=)
|
rs748863552
|
0.00001
|
NM_001378454.1(ALMS1):c.8842C>T (p.Pro2948Ser)
|
rs1171275378
|
0.00001
|
NM_001378454.1(ALMS1):c.8849C>A (p.Pro2950His)
|
rs777913623
|
0.00001
|
NM_001378454.1(ALMS1):c.8856T>C (p.Gly2952=)
|
rs764541883
|
0.00001
|
NM_001378454.1(ALMS1):c.8864C>G (p.Ser2955Cys)
|
rs1248081824
|
0.00001
|
NM_001378454.1(ALMS1):c.8875G>C (p.Asp2959His)
|
rs375254366
|
0.00001
|
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=)
|
rs777796888
|
0.00001
|
NM_001378454.1(ALMS1):c.8907C>T (p.Cys2969=)
|
rs1355984539
|
0.00001
|
NM_001378454.1(ALMS1):c.8960T>C (p.Leu2987Pro)
|
rs1465260699
|
0.00001
|
NM_001378454.1(ALMS1):c.8974G>T (p.Asp2992Tyr)
|
rs937731506
|
0.00001
|
NM_001378454.1(ALMS1):c.897G>A (p.Pro299=)
|
rs1296000408
|
0.00001
|
NM_001378454.1(ALMS1):c.901A>C (p.Ile301Leu)
|
rs534913971
|
0.00001
|
NM_001378454.1(ALMS1):c.9029T>C (p.Ile3010Thr)
|
rs780894681
|
0.00001
|
NM_001378454.1(ALMS1):c.903A>T (p.Ile301=)
|
rs552890246
|
0.00001
|
NM_001378454.1(ALMS1):c.9048C>T (p.Phe3016=)
|
rs1464769523
|
0.00001
|
NM_001378454.1(ALMS1):c.9063C>T (p.Ser3021=)
|
rs762273689
|
0.00001
|
NM_001378454.1(ALMS1):c.9073C>A (p.Pro3025Thr)
|
rs773480197
|
0.00001
|
NM_001378454.1(ALMS1):c.9088T>G (p.Leu3030Val)
|
rs754181473
|
0.00001
|
NM_001378454.1(ALMS1):c.9102A>G (p.Ala3034=)
|
rs946963036
|
0.00001
|
NM_001378454.1(ALMS1):c.9109C>T (p.Pro3037Ser)
|
rs752792682
|
0.00001
|
NM_001378454.1(ALMS1):c.9138T>C (p.Cys3046=)
|
rs779818117
|
0.00001
|
NM_001378454.1(ALMS1):c.9143A>C (p.His3048Pro)
|
rs866416012
|
0.00001
|
NM_001378454.1(ALMS1):c.9161A>G (p.Lys3054Arg)
|
rs778324244
|
0.00001
|
NM_001378454.1(ALMS1):c.9171C>T (p.Ser3057=)
|
rs1157529422
|
0.00001
|
NM_001378454.1(ALMS1):c.9174G>A (p.Lys3058=)
|
rs773703427
|
0.00001
|
NM_001378454.1(ALMS1):c.9191T>C (p.Leu3064Ser)
|
rs1434010689
|
0.00001
|
NM_001378454.1(ALMS1):c.9214G>C (p.Asp3072His)
|
rs1022898016
|
0.00001
|
NM_001378454.1(ALMS1):c.9275C>T (p.Ser3092Leu)
|
rs1394971174
|
0.00001
|
NM_001378454.1(ALMS1):c.9292A>T (p.Thr3098Ser)
|
rs1280854716
|
0.00001
|
NM_001378454.1(ALMS1):c.9318T>G (p.Pro3106=)
|
rs771679163
|
0.00001
|
NM_001378454.1(ALMS1):c.9327G>A (p.Gln3109=)
|
rs1366215746
|
0.00001
|
NM_001378454.1(ALMS1):c.9375C>T (p.Phe3125=)
|
rs753655534
|
0.00001
|
NM_001378454.1(ALMS1):c.9382G>A (p.Val3128Ile)
|
rs764937531
|
0.00001
|
NM_001378454.1(ALMS1):c.9384A>G (p.Val3128=)
|
rs752453102
|
0.00001
|
NM_001378454.1(ALMS1):c.9392C>T (p.Ser3131Phe)
|
rs144588413
|
0.00001
|
NM_001378454.1(ALMS1):c.9397C>G (p.Pro3133Ala)
|
rs45493191
|
0.00001
|
NM_001378454.1(ALMS1):c.93G>C (p.Ala31=)
|
rs13009609
|
0.00001
|
NM_001378454.1(ALMS1):c.9442C>A (p.Gln3148Lys)
|
rs917667192
|
0.00001
|
NM_001378454.1(ALMS1):c.9454A>G (p.Ile3152Val)
|
rs761831256
|
0.00001
|
NM_001378454.1(ALMS1):c.9480G>A (p.Val3160=)
|
rs752405413
|
0.00001
|
NM_001378454.1(ALMS1):c.9509A>G (p.Asn3170Ser)
|
rs1396386580
|
0.00001
|
NM_001378454.1(ALMS1):c.951A>C (p.Gln317His)
|
rs1233763940
|
0.00001
|
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly)
|
rs563393715
|
0.00001
|
NM_001378454.1(ALMS1):c.9539+10dup
|
rs775577830
|
0.00001
|
NM_001378454.1(ALMS1):c.9539G>A (p.Arg3180Gln)
|
rs772197358
|
0.00001
|
NM_001378454.1(ALMS1):c.953G>A (p.Gly318Glu)
|
rs372886271
|
0.00001
|
NM_001378454.1(ALMS1):c.9540-5G>A
|
rs755268745
|
0.00001
|
NM_001378454.1(ALMS1):c.9545C>T (p.Pro3182Leu)
|
rs1475730829
|
0.00001
|
NM_001378454.1(ALMS1):c.9579T>A (p.Ser3193=)
|
rs769786449
|
0.00001
|
NM_001378454.1(ALMS1):c.9581A>G (p.Glu3194Gly)
|
rs1673634547
|
0.00001
|
NM_001378454.1(ALMS1):c.9607C>T (p.Gln3203Ter)
|
rs956247442
|
0.00001
|
NM_001378454.1(ALMS1):c.9610A>G (p.Ile3204Val)
|
rs377600448
|
0.00001
|
NM_001378454.1(ALMS1):c.9612A>C (p.Ile3204=)
|
rs755456619
|
0.00001
|
NM_001378454.1(ALMS1):c.961G>A (p.Glu321Lys)
|
rs763730338
|
0.00001
|
NM_001378454.1(ALMS1):c.9628G>A (p.Glu3210Lys)
|
rs961373884
|
0.00001
|
NM_001378454.1(ALMS1):c.9631A>G (p.Lys3211Glu)
|
rs770987613
|
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.9645A>G (p.Ser3215=)
|
rs1558679135
|
0.00001
|
NM_001378454.1(ALMS1):c.9648T>G (p.Ser3216=)
|
rs761650480
|
0.00001
|
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe)
|
rs771768835
|
0.00001
|
NM_001378454.1(ALMS1):c.9654T>C (p.Ile3218=)
|
rs772672912
|
0.00001
|
NM_001378454.1(ALMS1):c.9669A>C (p.Glu3223Asp)
|
rs376206840
|
0.00001
|
NM_001378454.1(ALMS1):c.9672T>C (p.Asp3224=)
|
rs776177155
|
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.9702C>G (p.Asn3234Lys)
|
rs771376818
|
0.00001
|
NM_001378454.1(ALMS1):c.9711A>G (p.Leu3237=)
|
rs374674419
|
0.00001
|
NM_001378454.1(ALMS1):c.9726C>G (p.Val3242=)
|
rs776142259
|
0.00001
|
NM_001378454.1(ALMS1):c.9729G>A (p.Lys3243=)
|
rs1394836058
|
0.00001
|
NM_001378454.1(ALMS1):c.9757G>T (p.Val3253Phe)
|
rs751917932
|
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.9782-13T>G
|
rs530508947
|
0.00001
|
NM_001378454.1(ALMS1):c.9782-4T>C
|
rs1313825506
|
0.00001
|
NM_001378454.1(ALMS1):c.9786G>A (p.Gln3262=)
|
rs757139660
|
0.00001
|
NM_001378454.1(ALMS1):c.9803A>G (p.Tyr3268Cys)
|
rs375515965
|
0.00001
|
NM_001378454.1(ALMS1):c.9808C>T (p.Pro3270Ser)
|
rs1673992958
|
0.00001
|
NM_001378454.1(ALMS1):c.9830A>G (p.Tyr3277Cys)
|
rs200826787
|
0.00001
|
NM_001378454.1(ALMS1):c.9834T>C (p.Tyr3278=)
|
rs1573000972
|
0.00001
|
NM_001378454.1(ALMS1):c.9852A>G (p.Gln3284=)
|
rs1558684497
|
0.00001
|
NM_001378454.1(ALMS1):c.9867G>A (p.Pro3289=)
|
rs773900415
|
0.00001
|
NM_001378454.1(ALMS1):c.9871T>C (p.Ser3291Pro)
|
rs759591871
|
0.00001
|
NM_001378454.1(ALMS1):c.9885C>T (p.Thr3295=)
|
rs1455531770
|
0.00001
|
NM_001378454.1(ALMS1):c.9897C>T (p.Ser3299=)
|
rs1217540541
|
0.00001
|
NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs)
|
rs754702823
|
0.00001
|
NM_001378454.1(ALMS1):c.9907+14A>G
|
rs1402624178
|
0.00001
|
NM_001378454.1(ALMS1):c.9907+17A>C
|
rs772675597
|
0.00001
|
NM_001378454.1(ALMS1):c.9907+9C>T
|
rs761440321
|
0.00001
|
NM_001378454.1(ALMS1):c.9908-4G>T
|
rs1247899083
|
0.00001
|
NM_001378454.1(ALMS1):c.9915T>C (p.Asn3305=)
|
rs776834724
|
0.00001
|
NM_001378454.1(ALMS1):c.9987C>T (p.Asn3329=)
|
rs1314404557
|
0.00001
|
NM_015120.4(ALMS1):c.-53C>T
|
rs868088238
|
0.00001
|
NC_000002.11:g.(73786270_73799388)_(73800552_73826527)del
|
|
|
NC_000002.11:g.(?_73610049)_(73680031_?)del
|
|
|
NC_000002.11:g.(?_73612987)_(73786279_?)del
|
|
|
NC_000002.11:g.(?_73612987)_(73836749_?)del
|
|
|
NC_000002.11:g.(?_73612997)_(73747163_?)dup
|
|
|
NC_000002.11:g.(?_73635740)_(73786279_?)del
|
|
|
NC_000002.11:g.(?_73646231)_(73659439_?)del
|
|
|
NC_000002.11:g.(?_73651548)_(73653691_?)dup
|
|
|
NC_000002.11:g.(?_73651548)_(73659429_?)del
|
|
|
NC_000002.11:g.(?_73659316)_(73659429_?)del
|
|
|
NC_000002.11:g.(?_73675070)_(73682442_?)del
|
|
|
NC_000002.11:g.(?_73676196)_(73677479_?)del
|
|
|
NC_000002.11:g.(?_73682279)_(73682432_?)dup
|
|
|
NC_000002.11:g.(?_73716741)_(73718645_?)dup
|
|
|
NC_000002.11:g.(?_73716751)_(73718635_?)del
|
|
|
NC_000002.11:g.(?_73716751)_(73747153_?)del
|
|
|
NC_000002.11:g.(?_73716751)_(73762086_?)del
|
|
|
NC_000002.11:g.(?_73716751)_(73762086_?)dup
|
|
|
NC_000002.11:g.(?_73716751)_(73786279_?)del
|
|
|
NC_000002.11:g.(?_73746892)_(73747153_?)del
|
|
|
NC_000002.11:g.(?_73746892)_(73762086_?)del
|
|
|
NC_000002.11:g.(?_73746892)_(73777574_?)del
|
|
|
NC_000002.11:g.(?_73746892)_(73800561_?)del
|
|
|
NC_000002.11:g.(?_73761931)_(73762096_?)del
|
|
|
NC_000002.11:g.(?_73777374)_(73777584_?)del
|
|
|
NC_000002.11:g.(?_73777384)_(73800561_?)del
|
|
|
NC_000002.11:g.(?_73777384)_(73800561_?)dup
|
|
|
NC_000002.11:g.(?_73784327)_(73786289_?)del
|
|
|
NC_000002.11:g.(?_73799369)_(73836739_?)dup
|
|
|
NC_000002.11:g.(?_73799379)_(73800561_?)del
|
|
|
NC_000002.11:g.(?_73799379)_(73800561_?)dup
|
|
|
NC_000002.11:g.(?_73830348)_(73836739_?)del
|
|
|
NC_000002.11:g.(?_73835582)_(73836739_?)del
|
|
|
NC_000002.11:g.(?_73835582)_(73836739_?)dup
|
|
|
NC_000002.12:g.(?_73489624)_(73603314_?)del
|
|
|
NC_000002.12:g.(?_73603231)_(73609622_?)del
|
|
|
NM_001378454.1(ALMS1):c.-12C>G
|
rs1553396082
|
|
NM_001378454.1(ALMS1):c.-1C>T
|
rs756956183
|
|
NM_001378454.1(ALMS1):c.-7C>T
|
rs1296403299
|
|
NM_001378454.1(ALMS1):c.-8dup
|
rs1553396085
|
|
NM_001378454.1(ALMS1):c.-9G>A
|
rs1553396083
|
|
NM_001378454.1(ALMS1):c.10004G>A (p.Gly3335Glu)
|
|
|
NM_001378454.1(ALMS1):c.1000A>T (p.Lys334Ter)
|
|
|
NM_001378454.1(ALMS1):c.10010A>G (p.Tyr3337Cys)
|
rs1674404167
|
|
NM_001378454.1(ALMS1):c.10012A>C (p.Ser3338Arg)
|
|
|
NM_001378454.1(ALMS1):c.10016A>G (p.Lys3339Arg)
|
|
|
NM_001378454.1(ALMS1):c.10017G>A (p.Lys3339=)
|
|
|
NM_001378454.1(ALMS1):c.10029T>C (p.Thr3343=)
|
rs780076628
|
|
NM_001378454.1(ALMS1):c.10029T>G (p.Thr3343=)
|
|
|
NM_001378454.1(ALMS1):c.10030A>G (p.Lys3344Glu)
|
rs1674404816
|
|
NM_001378454.1(ALMS1):c.10038C>G (p.Ser3346=)
|
|
|
NM_001378454.1(ALMS1):c.1003G>A (p.Asp335Asn)
|
|
|
NM_001378454.1(ALMS1):c.10042C>T (p.Pro3348Ser)
|
|
|
NM_001378454.1(ALMS1):c.10043del (p.Pro3348fs)
|
rs1553416233
|
|
NM_001378454.1(ALMS1):c.10047G>A (p.Val3349=)
|
rs1674405055
|
|
NM_001378454.1(ALMS1):c.10047G>T (p.Val3349=)
|
|
|
NM_001378454.1(ALMS1):c.10050A>G (p.Gly3350=)
|
rs1374824703
|
|
NM_001378454.1(ALMS1):c.10056A>G (p.Lys3352=)
|
|
|
NM_001378454.1(ALMS1):c.10063C>T (p.Gln3355Ter)
|
|
|
NM_001378454.1(ALMS1):c.10064A>G (p.Gln3355Arg)
|
|
|
NM_001378454.1(ALMS1):c.10064A>T (p.Gln3355Leu)
|
|
|
NM_001378454.1(ALMS1):c.10078+14C>T
|
|
|
NM_001378454.1(ALMS1):c.10078+18G>C
|
rs1485299415
|
|
NM_001378454.1(ALMS1):c.10078+18del
|
|
|
NM_001378454.1(ALMS1):c.10078+20A>G
|
|
|
NM_001378454.1(ALMS1):c.10078+7G>A
|
rs2104035384
|
|
NM_001378454.1(ALMS1):c.10078+9A>C
|
|
|
NM_001378454.1(ALMS1):c.10079-10_10079-9dup
|
|
|
NM_001378454.1(ALMS1):c.10079-11C>A
|
rs368250605
|
|
NM_001378454.1(ALMS1):c.10079-12T>C
|
|
|
NM_001378454.1(ALMS1):c.10079-14T>C
|
|
|
NM_001378454.1(ALMS1):c.10079-15A>T
|
|
|
NM_001378454.1(ALMS1):c.10079-19A>G
|
rs935864365
|
|
NM_001378454.1(ALMS1):c.10079-1G>C
|
rs1361885101
|
|
NM_001378454.1(ALMS1):c.10079-2A>G
|
|
|
NM_001378454.1(ALMS1):c.10079-4C>G
|
rs1446726516
|
|
NM_001378454.1(ALMS1):c.10079-5del
|
rs2104057739
|
|
NM_001378454.1(ALMS1):c.10079-7A>T
|
|
|
NM_001378454.1(ALMS1):c.10082C>A (p.Ala3361Asp)
|
rs1195894910
|
|
NM_001378454.1(ALMS1):c.10083C>T (p.Ala3361=)
|
|
|
NM_001378454.1(ALMS1):c.10089T>C (p.Val3363=)
|
rs2104057828
|
|
NM_001378454.1(ALMS1):c.10093G>T (p.Val3365Leu)
|
rs1316719149
|
|
NM_001378454.1(ALMS1):c.10103C>G (p.Thr3368Ser)
|
rs1270212178
|
|
NM_001378454.1(ALMS1):c.10105G>A (p.Gly3369Arg)
|
|
|
NM_001378454.1(ALMS1):c.10106G>A (p.Gly3369Glu)
|
rs2104057922
|
|
NM_001378454.1(ALMS1):c.10108G>A (p.Asp3370Asn)
|
rs751123703
|
|
NM_001378454.1(ALMS1):c.10115A>C (p.Asn3372Thr)
|
|
|
NM_001378454.1(ALMS1):c.10120_10121del (p.Ser3374fs)
|
|
|
NM_001378454.1(ALMS1):c.10121C>A (p.Ser3374Ter)
|
|
|
NM_001378454.1(ALMS1):c.10125del (p.Asp3375fs)
|
rs2104057987
|
|
NM_001378454.1(ALMS1):c.1012C>T (p.Arg338Cys)
|
rs867586310
|
|
NM_001378454.1(ALMS1):c.10130A>C (p.Lys3377Thr)
|
|
|
NM_001378454.1(ALMS1):c.10131A>G (p.Lys3377=)
|
|
|
NM_001378454.1(ALMS1):c.10131dup (p.Gln3378fs)
|
rs1553416867
|
|
NM_001378454.1(ALMS1):c.10132C>T (p.Gln3378Ter)
|
|
|
NM_001378454.1(ALMS1):c.1013G>A (p.Arg338His)
|
|
|
NM_001378454.1(ALMS1):c.10140G>C (p.Glu3380Asp)
|
rs1045473444
|
|
NM_001378454.1(ALMS1):c.10146dup (p.Ser3383fs)
|
rs1553416872
|
|
NM_001378454.1(ALMS1):c.10152A>G (p.Thr3384=)
|
|
|
NM_001378454.1(ALMS1):c.10153_10158dup (p.Ala3386_Val3387insArgAla)
|
|
|
NM_001378454.1(ALMS1):c.10155G>A (p.Arg3385=)
|
|
|
NM_001378454.1(ALMS1):c.10158A>G (p.Ala3386=)
|
|
|
NM_001378454.1(ALMS1):c.10166A>C (p.Glu3389Ala)
|
|
|
NM_001378454.1(ALMS1):c.10176G>A (p.Gln3392=)
|
rs1674567633
|
|
NM_001378454.1(ALMS1):c.10177G>C (p.Ala3393Pro)
|
rs145678202
|
|
NM_001378454.1(ALMS1):c.10177G>T (p.Ala3393Ser)
|
rs145678202
|
|
NM_001378454.1(ALMS1):c.10178C>G (p.Ala3393Gly)
|
rs1231100277
|
|
NM_001378454.1(ALMS1):c.1017T>C (p.Tyr339=)
|
rs915566618
|
|
NM_001378454.1(ALMS1):c.10180A>G (p.Lys3394Glu)
|
rs886056316
|
|
NM_001378454.1(ALMS1):c.10185A>G (p.Glu3395=)
|
|
|
NM_001378454.1(ALMS1):c.10187A>G (p.Lys3396Arg)
|
|
|
NM_001378454.1(ALMS1):c.10188A>G (p.Lys3396=)
|
|
|
NM_001378454.1(ALMS1):c.10191A>G (p.Glu3397=)
|
|
|
NM_001378454.1(ALMS1):c.10194T>G (p.Ser3398=)
|
rs2104058358
|
|
NM_001378454.1(ALMS1):c.10195T>C (p.Leu3399=)
|
|
|
NM_001378454.1(ALMS1):c.10197G>A (p.Leu3399=)
|
rs2104058378
|
|
NM_001378454.1(ALMS1):c.10199A>C (p.Gln3400Pro)
|
|
|
NM_001378454.1(ALMS1):c.10200G>A (p.Gln3400=)
|
rs2104058403
|
|
NM_001378454.1(ALMS1):c.10204G>T (p.Asp3402Tyr)
|
|
|
NM_001378454.1(ALMS1):c.10208C>G (p.Thr3403Ser)
|
rs1231406875
|
|
NM_001378454.1(ALMS1):c.1020T>C (p.Asp340=)
|
|
|
NM_001378454.1(ALMS1):c.10210G>T (p.Ala3404Ser)
|
|
|
NM_001378454.1(ALMS1):c.10213+12G>A
|
rs527508238
|
|
NM_001378454.1(ALMS1):c.10213+15T>C
|
|
|
NM_001378454.1(ALMS1):c.10213+17G>C
|
rs1553416885
|
|
NM_001378454.1(ALMS1):c.10213+17G>T
|
|
|
NM_001378454.1(ALMS1):c.10213+1G>A
|
rs374681570
|
|
NM_001378454.1(ALMS1):c.10213+1G>T
|
|
|
NM_001378454.1(ALMS1):c.10213+3A>G
|
rs1553416881
|
|
NM_001378454.1(ALMS1):c.10213+7A>G
|
rs1553416882
|
|
NM_001378454.1(ALMS1):c.10213G>A (p.Asp3405Asn)
|
|
|
NM_001378454.1(ALMS1):c.10213G>T (p.Asp3405Tyr)
|
rs2104058482
|
|
NM_001378454.1(ALMS1):c.10213_10213+2del
|
|
|
NM_001378454.1(ALMS1):c.10214-11C>G
|
rs1365430683
|
|
NM_001378454.1(ALMS1):c.10214-12dup
|
rs543855806
|
|
NM_001378454.1(ALMS1):c.10214-14T>C
|
|
|
NM_001378454.1(ALMS1):c.10214-16A>G
|
|
|
NM_001378454.1(ALMS1):c.10214-20T>G
|
|
|
NM_001378454.1(ALMS1):c.10214-2A>G
|
rs2104063527
|
|
NM_001378454.1(ALMS1):c.10214-4G>C
|
|
|
NM_001378454.1(ALMS1):c.10214-5C>G
|
|
|
NM_001378454.1(ALMS1):c.10214-6_10214-5delinsGT
|
rs2104063507
|
|
NM_001378454.1(ALMS1):c.10221TGC[6] (p.Ala3412dup)
|
rs760731440
|
|
NM_001378454.1(ALMS1):c.10226C>G (p.Ala3409Gly)
|
|
|
NM_001378454.1(ALMS1):c.1022A>G (p.Asp341Gly)
|
rs762728069
|
|
NM_001378454.1(ALMS1):c.10234G>T (p.Ala3412Ser)
|
rs1454233838
|
|
NM_001378454.1(ALMS1):c.10236A>C (p.Ala3412=)
|
rs1173455677
|
|
NM_001378454.1(ALMS1):c.10241A>G (p.His3414Arg)
|
rs1674601435
|
|
NM_001378454.1(ALMS1):c.10244C>T (p.Ser3415Leu)
|
|
|
NM_001378454.1(ALMS1):c.10247del (p.Ala3416fs)
|
rs2104063719
|
|
NM_001378454.1(ALMS1):c.10249C>G (p.Gln3417Glu)
|
|
|
NM_001378454.1(ALMS1):c.10252G>A (p.Val3418Ile)
|
|
|
NM_001378454.1(ALMS1):c.10269GAA[1] (p.Lys3424del)
|
rs1184260245
|
|
NM_001378454.1(ALMS1):c.10279C>A (p.Pro3427Thr)
|
rs2104063862
|
|
NM_001378454.1(ALMS1):c.10284C>G (p.Asp3428Glu)
|
rs2104063874
|
|
NM_001378454.1(ALMS1):c.10287_10288del (p.Lys3430fs)
|
rs1553417044
|
|
NM_001378454.1(ALMS1):c.10288A>T (p.Lys3430Ter)
|
|
|
NM_001378454.1(ALMS1):c.10294A>C (p.Ile3432Leu)
|
rs2104063946
|
|
NM_001378454.1(ALMS1):c.10297A>G (p.Thr3433Ala)
|
rs750493624
|
|
NM_001378454.1(ALMS1):c.102G>A (p.Ala34=)
|
rs1574423870
|
|
NM_001378454.1(ALMS1):c.102G>C (p.Ala34=)
|
rs1574423870
|
|
NM_001378454.1(ALMS1):c.10304A>T (p.Lys3435Ile)
|
|
|
NM_001378454.1(ALMS1):c.10305A>G (p.Lys3435=)
|
|
|
NM_001378454.1(ALMS1):c.10308G>A (p.Glu3436=)
|
|
|
NM_001378454.1(ALMS1):c.10311G>A (p.Glu3437=)
|
|
|
NM_001378454.1(ALMS1):c.10313T>C (p.Ile3438Thr)
|
rs1674603162
|
|
NM_001378454.1(ALMS1):c.10314C>A (p.Ile3438=)
|
|
|
NM_001378454.1(ALMS1):c.10314C>T (p.Ile3438=)
|
|
|
NM_001378454.1(ALMS1):c.10316A>G (p.His3439Arg)
|
rs139425340
|
|
NM_001378454.1(ALMS1):c.10317T>C (p.His3439=)
|
rs948843150
|
|
NM_001378454.1(ALMS1):c.10321A>T (p.Lys3441Ter)
|
|
|
NM_001378454.1(ALMS1):c.10326G>C (p.Lys3442Asn)
|
|
|
NM_001378454.1(ALMS1):c.10329A>G (p.Thr3443=)
|
|
|
NM_001378454.1(ALMS1):c.1032A>T (p.Ser344=)
|
rs376519124
|
|
NM_001378454.1(ALMS1):c.10330G>A (p.Val3444Ile)
|
|
|
NM_001378454.1(ALMS1):c.10332T>C (p.Val3444=)
|
|
|
NM_001378454.1(ALMS1):c.10332del (p.Glu3446fs)
|
|
|
NM_001378454.1(ALMS1):c.10333C>T (p.Pro3445Ser)
|
rs267599448
|
|
NM_001378454.1(ALMS1):c.10334_10335delinsTA (p.Pro3445Leu)
|
|
|
NM_001378454.1(ALMS1):c.10335C>G (p.Pro3445=)
|
|
|
NM_001378454.1(ALMS1):c.10336G>A (p.Glu3446Lys)
|
|
|
NM_001378454.1(ALMS1):c.10346G>A (p.Trp3449Ter)
|
|
|
NM_001378454.1(ALMS1):c.10353C>A (p.Asn3451Lys)
|
rs1209953727
|
|
NM_001378454.1(ALMS1):c.10355dup (p.Asn3452fs)
|
|
|
NM_001378454.1(ALMS1):c.10358A>G (p.Lys3453Arg)
|
|
|
NM_001378454.1(ALMS1):c.10362A>G (p.Glu3454=)
|
rs762161593
|
|
NM_001378454.1(ALMS1):c.10368A>G (p.Leu3456=)
|
rs929142880
|
|
NM_001378454.1(ALMS1):c.10374C>G (p.Ile3458Met)
|
rs767799669
|
|
NM_001378454.1(ALMS1):c.10375A>C (p.Asn3459His)
|
|
|
NM_001378454.1(ALMS1):c.10375A>G (p.Asn3459Asp)
|
rs773439063
|
|
NM_001378454.1(ALMS1):c.10377T>A (p.Asn3459Lys)
|
rs2104064364
|
|
NM_001378454.1(ALMS1):c.10378A>G (p.Ile3460Val)
|
|
|
NM_001378454.1(ALMS1):c.10381G>A (p.Glu3461Lys)
|
|
|
NM_001378454.1(ALMS1):c.10384+10T>C
|
|
|
NM_001378454.1(ALMS1):c.10384+13G>C
|
|
|
NM_001378454.1(ALMS1):c.10384+14G>A
|
|
|
NM_001378454.1(ALMS1):c.10384+1632G>A
|
|
|
NM_001378454.1(ALMS1):c.10384+19G>A
|
|
|
NM_001378454.1(ALMS1):c.10384+1G>A
|
rs766366221
|
|
NM_001378454.1(ALMS1):c.10384+2dup
|
rs1255846889
|
|
NM_001378454.1(ALMS1):c.10384+4A>G
|
rs2104064401
|
|
NM_001378454.1(ALMS1):c.10384+5T>C
|
rs758235228
|
|
NM_001378454.1(ALMS1):c.10384+9A>G
|
|
|
NM_001378454.1(ALMS1):c.10384+9A>T
|
|
|
NM_001378454.1(ALMS1):c.10385-16T>A
|
|
|
NM_001378454.1(ALMS1):c.10385-16T>C
|
rs1396255385
|
|
NM_001378454.1(ALMS1):c.10385-17T>C
|
|
|
NM_001378454.1(ALMS1):c.10385-2A>G
|
rs1255779642
|
|
NM_001378454.1(ALMS1):c.10385-7T>A
|
rs1298945759
|
|
NM_001378454.1(ALMS1):c.10385-7T>G
|
rs1298945759
|
|
NM_001378454.1(ALMS1):c.10386G>A (p.Glu3462=)
|
rs773637244
|
|
NM_001378454.1(ALMS1):c.10402G>T (p.Glu3468Ter)
|
|
|
NM_001378454.1(ALMS1):c.10404A>G (p.Glu3468=)
|
rs1451268706
|
|
NM_001378454.1(ALMS1):c.10412A>C (p.Asn3471Thr)
|
rs2104103500
|
|
NM_001378454.1(ALMS1):c.10413T>C (p.Asn3471=)
|
|
|
NM_001378454.1(ALMS1):c.10416T>C (p.Thr3472=)
|
|
|
NM_001378454.1(ALMS1):c.10417A>T (p.Thr3473Ser)
|
rs2104103542
|
|
NM_001378454.1(ALMS1):c.1041A>C (p.Ser347=)
|
rs1553400737
|
|
NM_001378454.1(ALMS1):c.1041A>G (p.Ser347=)
|
rs1553400737
|
|
NM_001378454.1(ALMS1):c.1041A>T (p.Ser347=)
|
rs1553400737
|
|
NM_001378454.1(ALMS1):c.10421G>A (p.Arg3474His)
|
|
|
NM_001378454.1(ALMS1):c.10421del (p.Arg3474fs)
|
rs2104103586
|
|
NM_001378454.1(ALMS1):c.10424C>G (p.Ser3475Cys)
|
|
|
NM_001378454.1(ALMS1):c.10425T>G (p.Ser3475=)
|
|
|
NM_001378454.1(ALMS1):c.10427del (p.Val3476fs)
|
rs1674946144
|
|
NM_001378454.1(ALMS1):c.10436_10439del (p.Arg3478_Ser3479insTer)
|
|
|
NM_001378454.1(ALMS1):c.10443G>C (p.Lys3481Asn)
|
|
|
NM_001378454.1(ALMS1):c.10448A>G (p.Tyr3483Cys)
|
rs2104103714
|
|
NM_001378454.1(ALMS1):c.10458_10466dup (p.Pro3487_His3489dup)
|
rs1553418413
|
|
NM_001378454.1(ALMS1):c.1045A>T (p.Lys349Ter)
|
|
|
NM_001378454.1(ALMS1):c.10460C>T (p.Pro3487Leu)
|
rs1674947337
|
|
NM_001378454.1(ALMS1):c.10461C>A (p.Pro3487=)
|
|
|
NM_001378454.1(ALMS1):c.10462G>A (p.Val3488Ile)
|
|
|
NM_001378454.1(ALMS1):c.10464A>C (p.Val3488=)
|
rs28730858
|
|
NM_001378454.1(ALMS1):c.10468C>T (p.Leu3490=)
|
|
|
NM_001378454.1(ALMS1):c.10470A>G (p.Leu3490=)
|
rs2104103821
|
|
NM_001378454.1(ALMS1):c.10474A>G (p.Ser3492Gly)
|
|
|
NM_001378454.1(ALMS1):c.1047G>A (p.Lys349=)
|
rs574271805
|
|
NM_001378454.1(ALMS1):c.10481A>G (p.Gln3494Arg)
|
rs1553418430
|
|
NM_001378454.1(ALMS1):c.10482A>G (p.Gln3494=)
|
rs2104103900
|
|
NM_001378454.1(ALMS1):c.10483G>A (p.Asp3495Asn)
|
rs533617405
|
|
NM_001378454.1(ALMS1):c.10485T>C (p.Asp3495=)
|
rs776784912
|
|
NM_001378454.1(ALMS1):c.10488T>A (p.Ile3496=)
|
rs1438143250
|
|
NM_001378454.1(ALMS1):c.10490G>A (p.Cys3497Tyr)
|
|
|
NM_001378454.1(ALMS1):c.10490G>C (p.Cys3497Ser)
|
|
|
NM_001378454.1(ALMS1):c.104_106dup (p.Ala35_Asn36insThr)
|
|
|
NM_001378454.1(ALMS1):c.10507_10510del (p.Lys3503fs)
|
|
|
NM_001378454.1(ALMS1):c.1050A>T (p.Thr350=)
|
rs2103715526
|
|
NM_001378454.1(ALMS1):c.10510A>G (p.Ser3504Gly)
|
rs45585940
|
|
NM_001378454.1(ALMS1):c.10511G>A (p.Ser3504Asn)
|
rs1558699257
|
|
NM_001378454.1(ALMS1):c.10519A>G (p.Met3507Val)
|
rs1350031802
|
|
NM_001378454.1(ALMS1):c.10530_10531insGGAATGTCTTTCCAAGATT (p.Trp3511fs)
|
rs2104104085
|
|
NM_001378454.1(ALMS1):c.10535_10536insTGTCTTTCCAAGATTGGAA (p.Lys3512fs)
|
rs1220975714
|
|
NM_001378454.1(ALMS1):c.10537G>T (p.Asp3513Tyr)
|
rs1674949916
|
|
NM_001378454.1(ALMS1):c.10539T>C (p.Asp3513=)
|
|
|
NM_001378454.1(ALMS1):c.10544_10545insCA (p.Gln3516fs)
|
rs1553418449
|
|
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter)
|
rs375019820
|
|
NM_001378454.1(ALMS1):c.10554T>C (p.His3518=)
|
rs1005737478
|
|
NM_001378454.1(ALMS1):c.10558G>C (p.Asp3520His)
|
rs1403094265
|
|
NM_001378454.1(ALMS1):c.10558_10561del (p.Asp3520fs)
|
rs2104104189
|
|
NM_001378454.1(ALMS1):c.10562A>G (p.Lys3521Arg)
|
|
|
NM_001378454.1(ALMS1):c.10565A>G (p.His3522Arg)
|
|
|
NM_001378454.1(ALMS1):c.10566T>C (p.His3522=)
|
rs778554206
|
|
NM_001378454.1(ALMS1):c.10566_10567del (p.His3522fs)
|
rs1163532771
|
|
NM_001378454.1(ALMS1):c.10569A>G (p.Arg3523=)
|
|
|
NM_001378454.1(ALMS1):c.10571_10572insCACATAGAGA (p.Glu3524delinsAspThrTer)
|
rs1553418457
|
|
NM_001378454.1(ALMS1):c.10572A>G (p.Glu3524=)
|
rs1335438080
|
|
NM_001378454.1(ALMS1):c.10575C>A (p.His3525Gln)
|
rs1674954136
|
|
NM_001378454.1(ALMS1):c.10578G>C (p.Met3526Ile)
|
|
|
NM_001378454.1(ALMS1):c.10588C>G (p.Leu3530Val)
|
|
|
NM_001378454.1(ALMS1):c.10588C>T (p.Leu3530Phe)
|
rs781331448
|
|
NM_001378454.1(ALMS1):c.10591_10594del (p.Pro3531fs)
|
|
|
NM_001378454.1(ALMS1):c.10592C>G (p.Pro3531Arg)
|
rs2104104344
|
|
NM_001378454.1(ALMS1):c.10602C>T (p.Asn3534=)
|
|
|
NM_001378454.1(ALMS1):c.10603A>G (p.Met3535Val)
|
rs769907792
|
|
NM_001378454.1(ALMS1):c.10607A>G (p.Asp3536Gly)
|
|
|
NM_001378454.1(ALMS1):c.10608C>T (p.Asp3536=)
|
rs765108975
|
|
NM_001378454.1(ALMS1):c.10612A>G (p.Thr3538Ala)
|
rs1225039531
|
|
NM_001378454.1(ALMS1):c.10613C>T (p.Thr3538Ile)
|
|
|
NM_001378454.1(ALMS1):c.10616A>C (p.Lys3539Thr)
|
rs1223712611
|
|
NM_001378454.1(ALMS1):c.10619_10622del (p.Thr3540fs)
|
rs2104104427
|
|
NM_001378454.1(ALMS1):c.10620A>G (p.Thr3540=)
|
rs2104104435
|
|
NM_001378454.1(ALMS1):c.10621G>A (p.Asp3541Asn)
|
|
|
NM_001378454.1(ALMS1):c.10625A>T (p.Tyr3542Phe)
|
|
|
NM_001378454.1(ALMS1):c.10629C>G (p.Thr3543=)
|
|
|
NM_001378454.1(ALMS1):c.1062A>T (p.Thr354=)
|
|
|
NM_001378454.1(ALMS1):c.10632A>G (p.Arg3544=)
|
|
|
NM_001378454.1(ALMS1):c.10641C>G (p.Ser3547Arg)
|
rs893243465
|
|
NM_001378454.1(ALMS1):c.10641C>T (p.Ser3547=)
|
rs893243465
|
|
NM_001378454.1(ALMS1):c.10643T>A (p.Leu3548His)
|
rs1674958037
|
|
NM_001378454.1(ALMS1):c.10644C>G (p.Leu3548=)
|
rs1180701508
|
|
NM_001378454.1(ALMS1):c.1064A>G (p.Gln355Arg)
|
|
|
NM_001378454.1(ALMS1):c.10652A>G (p.Asn3551Ser)
|
rs868744829
|
|
NM_001378454.1(ALMS1):c.10652dup (p.Asn3551fs)
|
|
|
NM_001378454.1(ALMS1):c.10656G>A (p.Val3552=)
|
rs2104104616
|
|
NM_001378454.1(ALMS1):c.1065G>A (p.Gln355=)
|
rs2103715566
|
|
NM_001378454.1(ALMS1):c.10660T>C (p.Leu3554=)
|
|
|
NM_001378454.1(ALMS1):c.10665A>C (p.Gly3555=)
|
rs1674958752
|
|
NM_001378454.1(ALMS1):c.10668C>G (p.Asn3556Lys)
|
|
|
NM_001378454.1(ALMS1):c.10668del (p.Asn3556fs)
|
rs2104104628
|
|
NM_001378454.1(ALMS1):c.10671A>C (p.Lys3557Asn)
|
rs1674959132
|
|
NM_001378454.1(ALMS1):c.10671_10674del (p.Lys3557_Glu3558insTer)
|
rs1372103295
|
|
NM_001378454.1(ALMS1):c.10676del (p.Val3559fs)
|
rs1573030204
|
|
NM_001378454.1(ALMS1):c.10677G>A (p.Val3559=)
|
|
|
NM_001378454.1(ALMS1):c.10679T>C (p.Met3560Thr)
|
rs752203028
|
|
NM_001378454.1(ALMS1):c.10679T>G (p.Met3560Arg)
|
rs752203028
|
|
NM_001378454.1(ALMS1):c.10683T>C (p.Asp3561=)
|
rs1357578376
|
|
NM_001378454.1(ALMS1):c.10685C>G (p.Thr3562Ser)
|
rs1674959661
|
|
NM_001378454.1(ALMS1):c.10693A>T (p.Ser3565Cys)
|
|
|
NM_001378454.1(ALMS1):c.10698_10702del (p.Val3567fs)
|
|
|
NM_001378454.1(ALMS1):c.1069C>A (p.Pro357Thr)
|
rs2103715581
|
|
NM_001378454.1(ALMS1):c.10701T>C (p.Val3567=)
|
rs2104104788
|
|
NM_001378454.1(ALMS1):c.10703G>C (p.Arg3568Thr)
|
|
|
NM_001378454.1(ALMS1):c.10709A>G (p.Tyr3570Cys)
|
rs2104104820
|
|
NM_001378454.1(ALMS1):c.10716A>G (p.Lys3572=)
|
rs2104104864
|
|
NM_001378454.1(ALMS1):c.1071T>C (p.Pro357=)
|
rs771156823
|
|
NM_001378454.1(ALMS1):c.10721A>G (p.Asn3574Ser)
|
|
|
NM_001378454.1(ALMS1):c.10728A>G (p.Gln3576=)
|
|
|
NM_001378454.1(ALMS1):c.10731T>C (p.Ile3577=)
|
rs1553418487
|
|
NM_001378454.1(ALMS1):c.10733G>A (p.Ser3578Asn)
|
|
|
NM_001378454.1(ALMS1):c.10735G>C (p.Asp3579His)
|
rs1450650278
|
|
NM_001378454.1(ALMS1):c.10736A>G (p.Asp3579Gly)
|
|
|
NM_001378454.1(ALMS1):c.10743A>G (p.Gln3581=)
|
|
|
NM_001378454.1(ALMS1):c.10750C>G (p.Gln3584Glu)
|
|
|
NM_001378454.1(ALMS1):c.10753_10755del (p.Lys3585del)
|
|
|
NM_001378454.1(ALMS1):c.10759A>G (p.Thr3587Ala)
|
|
|
NM_001378454.1(ALMS1):c.10765_10766insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAGGTCACCCCAG (p.Pro3588_Glu3589insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrIleLeuAlaAsnThrValLysProArgXaaXaaXaaXaaLysLysLysLysLysLysLysLysValThrPro)
|
rs2104105041
|
|
NM_001378454.1(ALMS1):c.10766del (p.Glu3589fs)
|
rs2104105065
|
|
NM_001378454.1(ALMS1):c.10768C>G (p.Gln3590Glu)
|
rs1674961683
|
|
NM_001378454.1(ALMS1):c.10771A>G (p.Thr3591Ala)
|
|
|
NM_001378454.1(ALMS1):c.10772C>T (p.Thr3591Ile)
|
rs773091397
|
|
NM_001378454.1(ALMS1):c.10774A>C (p.Thr3592Pro)
|
rs200467041
|
|
NM_001378454.1(ALMS1):c.10776T>G (p.Thr3592=)
|
rs2104105106
|
|
NM_001378454.1(ALMS1):c.10778A>G (p.Gln3593Arg)
|
|
|
NM_001378454.1(ALMS1):c.10782_10792del (p.Thr3595fs)
|
|
|
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs)
|
rs1218465638
|
|
NM_001378454.1(ALMS1):c.10788G>A (p.Val3596=)
|
rs45445398
|
|
NM_001378454.1(ALMS1):c.10792T>C (p.Leu3598=)
|
rs2104105156
|
|
NM_001378454.1(ALMS1):c.10792T>G (p.Leu3598Val)
|
|
|
NM_001378454.1(ALMS1):c.10797T>C (p.Asn3599=)
|
rs2104105164
|
|
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs)
|
rs1553418500
|
|
NM_001378454.1(ALMS1):c.10798G>T (p.Glu3600Ter)
|
|
|
NM_001378454.1(ALMS1):c.10808A>G (p.Asn3603Ser)
|
|
|
NM_001378454.1(ALMS1):c.10812G>A (p.Lys3604=)
|
rs878948308
|
|
NM_001378454.1(ALMS1):c.10813dup (p.Tyr3605fs)
|
rs1553418505
|
|
NM_001378454.1(ALMS1):c.10815T>C (p.Tyr3605=)
|
|
|
NM_001378454.1(ALMS1):c.10819G>A (p.Glu3607Lys)
|
|
|
NM_001378454.1(ALMS1):c.10822C>G (p.Arg3608Gly)
|
|
|
NM_001378454.1(ALMS1):c.10824A>C (p.Arg3608=)
|
rs2104105247
|
|
NM_001378454.1(ALMS1):c.10824A>T (p.Arg3608=)
|
|
|
NM_001378454.1(ALMS1):c.10825C>T (p.Gln3609Ter)
|
|
|
NM_001378454.1(ALMS1):c.10826A>G (p.Gln3609Arg)
|
rs886056317
|
|
NM_001378454.1(ALMS1):c.10827G>A (p.Gln3609=)
|
rs2104105279
|
|
NM_001378454.1(ALMS1):c.10827G>C (p.Gln3609His)
|
rs2104105279
|
|
NM_001378454.1(ALMS1):c.10828A>G (p.Arg3610Gly)
|
|
|
NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs)
|
rs755616266
|
|
NM_001378454.1(ALMS1):c.10831C>T (p.Gln3611Ter)
|
rs2104105305
|
|
NM_001378454.1(ALMS1):c.10833A>G (p.Gln3611=)
|
rs1273406580
|
|
NM_001378454.1(ALMS1):c.10833del (p.Gln3611fs)
|
|
|
NM_001378454.1(ALMS1):c.10834C>T (p.Gln3612Ter)
|
rs756345976
|
|
NM_001378454.1(ALMS1):c.10836dup (p.Arg3613fs)
|
rs1553418512
|
|
NM_001378454.1(ALMS1):c.10838_10839del (p.Arg3613fs)
|
|
|
NM_001378454.1(ALMS1):c.10842G>T (p.Gln3614His)
|
|
|
NM_001378454.1(ALMS1):c.10844del (p.Pro3615fs)
|
rs1553418513
|
|
NM_001378454.1(ALMS1):c.10849T>C (p.Leu3617=)
|
rs780187704
|
|
NM_001378454.1(ALMS1):c.10853G>A (p.Gly3618Asp)
|
|
|
NM_001378454.1(ALMS1):c.10860G>A (p.Arg3620=)
|
rs373682259
|
|
NM_001378454.1(ALMS1):c.10860del (p.Glu3622fs)
|
|
|
NM_001378454.1(ALMS1):c.10863A>G (p.Lys3621=)
|
|
|
NM_001378454.1(ALMS1):c.10868T>C (p.Leu3623Pro)
|
|
|
NM_001378454.1(ALMS1):c.10869G>C (p.Leu3623=)
|
rs775336312
|
|
NM_001378454.1(ALMS1):c.10872C>T (p.Ser3624=)
|
rs963421553
|
|
NM_001378454.1(ALMS1):c.10873T>A (p.Leu3625Met)
|
|
|
NM_001378454.1(ALMS1):c.10873T>C (p.Leu3625=)
|
rs762668289
|
|
NM_001378454.1(ALMS1):c.10874T>A (p.Leu3625Ter)
|
|
|
NM_001378454.1(ALMS1):c.10875G>A (p.Leu3625=)
|
|
|
NM_001378454.1(ALMS1):c.10876del (p.Val3626fs)
|
|
|
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter)
|
rs1473611414
|
|
NM_001378454.1(ALMS1):c.10885C>T (p.Leu3629Phe)
|
|
|
NM_001378454.1(ALMS1):c.10886T>C (p.Leu3629Pro)
|
|
|
NM_001378454.1(ALMS1):c.108C>T (p.Asn36=)
|
|
|
NM_001378454.1(ALMS1):c.10903A>G (p.Ile3635Val)
|
rs1674966271
|
|
NM_001378454.1(ALMS1):c.10906C>A (p.Leu3636Ile)
|
rs1573030520
|
|
NM_001378454.1(ALMS1):c.10907T>C (p.Leu3636Pro)
|
rs2104105685
|
|
NM_001378454.1(ALMS1):c.10909C>G (p.Gln3637Glu)
|
rs754108525
|
|
NM_001378454.1(ALMS1):c.10909C>T (p.Gln3637Ter)
|
|
|
NM_001378454.1(ALMS1):c.10914T>C (p.Asn3638=)
|
rs2104105713
|
|
NM_001378454.1(ALMS1):c.10918A>G (p.Ile3640Val)
|
|
|
NM_001378454.1(ALMS1):c.10923A>C (p.Thr3641=)
|
|
|
NM_001378454.1(ALMS1):c.10923A>G (p.Thr3641=)
|
rs879223990
|
|
NM_001378454.1(ALMS1):c.10925A>G (p.His3642Arg)
|
rs1240495775
|
|
NM_001378454.1(ALMS1):c.10929T>C (p.Ser3643=)
|
rs1674966983
|
|
NM_001378454.1(ALMS1):c.1092A>G (p.Lys364=)
|
|
|
NM_001378454.1(ALMS1):c.1092del (p.Asp365fs)
|
rs1572914641
|
|
NM_001378454.1(ALMS1):c.10930C>G (p.Leu3644Val)
|
rs1060500033
|
|
NM_001378454.1(ALMS1):c.10932C>A (p.Leu3644=)
|
|
|
NM_001378454.1(ALMS1):c.10938C>T (p.Val3646=)
|
|
|
NM_001378454.1(ALMS1):c.1093G>T (p.Asp365Tyr)
|
rs1229379546
|
|
NM_001378454.1(ALMS1):c.10942G>A (p.Glu3648Lys)
|
rs397514576
|
|
NM_001378454.1(ALMS1):c.10942G>T (p.Glu3648Ter)
|
rs397514576
|
|
NM_001378454.1(ALMS1):c.10946G>A (p.Ser3649Asn)
|
rs2104105859
|
|
NM_001378454.1(ALMS1):c.10950A>G (p.Thr3650=)
|
|
|
NM_001378454.1(ALMS1):c.10951C>T (p.His3651Tyr)
|
|
|
NM_001378454.1(ALMS1):c.10952A>G (p.His3651Arg)
|
rs1294645835
|
|
NM_001378454.1(ALMS1):c.10953T>C (p.His3651=)
|
rs1482258922
|
|
NM_001378454.1(ALMS1):c.10966G>A (p.Gly3656Arg)
|
rs1674968038
|
|
NM_001378454.1(ALMS1):c.10967G>A (p.Gly3656Glu)
|
|
|
NM_001378454.1(ALMS1):c.10971A>G (p.Glu3657=)
|
rs868321585
|
|
NM_001378454.1(ALMS1):c.10972C>T (p.Arg3658Ter)
|
rs780438592
|
|
NM_001378454.1(ALMS1):c.1097A>G (p.Gln366Arg)
|
rs2103715685
|
|
NM_001378454.1(ALMS1):c.10984G>T (p.Glu3662Ter)
|
|
|
NM_001378454.1(ALMS1):c.10986A>G (p.Glu3662=)
|
rs779961618
|
|
NM_001378454.1(ALMS1):c.10987T>G (p.Trp3663Gly)
|
rs748921342
|
|
NM_001378454.1(ALMS1):c.10988G>A (p.Trp3663Ter)
|
rs1674968936
|
|
NM_001378454.1(ALMS1):c.10989G>A (p.Trp3663Ter)
|
rs193919339
|
|
NM_001378454.1(ALMS1):c.10994G>T (p.Gly3665Val)
|
|
|
NM_001378454.1(ALMS1):c.10995T>C (p.Gly3665=)
|
|
|
NM_001378454.1(ALMS1):c.10999C>T (p.Gln3667Ter)
|
|
|
NM_001378454.1(ALMS1):c.10G>T (p.Glu4Ter)
|
rs1553396092
|
|
NM_001378454.1(ALMS1):c.11001A>G (p.Gln3667=)
|
|
|
NM_001378454.1(ALMS1):c.11002C>T (p.Gln3668Ter)
|
|
|
NM_001378454.1(ALMS1):c.11006A>G (p.Gln3669Arg)
|
rs773767346
|
|
NM_001378454.1(ALMS1):c.11009G>C (p.Arg3670Thr)
|
rs1674969661
|
|
NM_001378454.1(ALMS1):c.1101T>G (p.Val367=)
|
|
|
NM_001378454.1(ALMS1):c.11025A>G (p.Lys3675=)
|
rs2104106238
|
|
NM_001378454.1(ALMS1):c.11028G>T (p.Lys3676Asn)
|
|
|
NM_001378454.1(ALMS1):c.1102T>G (p.Ser368Ala)
|
|
|
NM_001378454.1(ALMS1):c.11031G>A (p.Lys3677=)
|
|
|
NM_001378454.1(ALMS1):c.11034G>A (p.Arg3678=)
|
|
|
NM_001378454.1(ALMS1):c.11037dup (p.Lys3680Ter)
|
rs2104106303
|
|
NM_001378454.1(ALMS1):c.11041del (p.Ser3681fs)
|
|
|
NM_001378454.1(ALMS1):c.11044C>G (p.Leu3682Val)
|
rs1674970712
|
|
NM_001378454.1(ALMS1):c.11045_11056del (p.Leu3682_Ser3685del)
|
rs757734472
|
|
NM_001378454.1(ALMS1):c.11054_11055del (p.Ser3685fs)
|
|
|
NM_001378454.1(ALMS1):c.11057A>G (p.His3686Arg)
|
rs912853018
|
|
NM_001378454.1(ALMS1):c.11057A>T (p.His3686Leu)
|
|
|
NM_001378454.1(ALMS1):c.11066C>T (p.Thr3689Ile)
|
|
|
NM_001378454.1(ALMS1):c.1106T>C (p.Val369Ala)
|
|
|
NM_001378454.1(ALMS1):c.11070C>A (p.Gly3690=)
|
rs371329585
|
|
NM_001378454.1(ALMS1):c.11076T>G (p.Leu3692=)
|
rs2104106428
|
|
NM_001378454.1(ALMS1):c.11076del (p.Ser3695fs)
|
|
|
NM_001378454.1(ALMS1):c.1107T>G (p.Val369=)
|
rs2103715721
|
|
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs)
|
rs1412574975
|
|
NM_001378454.1(ALMS1):c.11083dup (p.Ser3695fs)
|
rs1412574975
|
|
NM_001378454.1(ALMS1):c.11084G>A (p.Ser3695Asn)
|
rs780014956
|
|
NM_001378454.1(ALMS1):c.11091G>A (p.Val3697=)
|
|
|
NM_001378454.1(ALMS1):c.11091G>T (p.Val3697=)
|
|
|
NM_001378454.1(ALMS1):c.11099ATC[1] (p.His3701del)
|
rs1426150645
|
|
NM_001378454.1(ALMS1):c.110T>G (p.Val37Gly)
|
|
|
NM_001378454.1(ALMS1):c.11104C>T (p.Arg3702Ter)
|
rs747747269
|
|
NM_001378454.1(ALMS1):c.11105G>T (p.Arg3702Leu)
|
|
|
NM_001378454.1(ALMS1):c.11106A>G (p.Arg3702=)
|
|
|
NM_001378454.1(ALMS1):c.11107G>T (p.Ala3703Ser)
|
|
|
NM_001378454.1(ALMS1):c.11110_11128del (p.Gly3704fs)
|
rs2104106546
|
|
NM_001378454.1(ALMS1):c.11115G>T (p.Arg3705Ser)
|
rs2104106559
|
|
NM_001378454.1(ALMS1):c.11117C>G (p.Ser3706Cys)
|
rs533965968
|
|
NM_001378454.1(ALMS1):c.11118T>C (p.Ser3706=)
|
rs2104106588
|
|
NM_001378454.1(ALMS1):c.11119A>C (p.Asn3707His)
|
rs200464290
|
|
NM_001378454.1(ALMS1):c.11119A>G (p.Asn3707Asp)
|
|
|
NM_001378454.1(ALMS1):c.11127T>G (p.Ile3709Met)
|
rs2104106623
|
|
NM_001378454.1(ALMS1):c.11133T>C (p.Ile3711=)
|
rs1430075527
|
|
NM_001378454.1(ALMS1):c.11137C>T (p.Gln3713Ter)
|
|
|
NM_001378454.1(ALMS1):c.1113T>C (p.Thr371=)
|
|
|
NM_001378454.1(ALMS1):c.11140A>G (p.Ile3714Val)
|
rs370536187
|
|
NM_001378454.1(ALMS1):c.11145A>G (p.Lys3715=)
|
rs1573030809
|
|
NM_001378454.1(ALMS1):c.11150A>G (p.Asp3717Gly)
|
|
|
NM_001378454.1(ALMS1):c.11151T>C (p.Asp3717=)
|
|
|
NM_001378454.1(ALMS1):c.11154A>G (p.Lys3718=)
|
rs2104106732
|
|
NM_001378454.1(ALMS1):c.11164A>G (p.Ser3722Gly)
|
rs2104106753
|
|
NM_001378454.1(ALMS1):c.11166_11167del (p.Ser3722fs)
|
rs1674975219
|
|
NM_001378454.1(ALMS1):c.11169A>G (p.Lys3723=)
|
rs2104106786
|
|
NM_001378454.1(ALMS1):c.11170C>T (p.Gln3724Ter)
|
|
|
NM_001378454.1(ALMS1):c.11172G>A (p.Gln3724=)
|
|
|
NM_001378454.1(ALMS1):c.11175A>C (p.Pro3725=)
|
rs1289897917
|
|
NM_001378454.1(ALMS1):c.11177G>A (p.Gly3726Asp)
|
|
|
NM_001378454.1(ALMS1):c.11187T>C (p.Tyr3729=)
|
rs2104106849
|
|
NM_001378454.1(ALMS1):c.11193C>T (p.Ser3731=)
|
rs374895214
|
|
NM_001378454.1(ALMS1):c.11198del (p.Thr3733fs)
|
|
|
NM_001378454.1(ALMS1):c.111G>T (p.Val37=)
|
rs1394882288
|
|
NM_001378454.1(ALMS1):c.11200T>A (p.Ser3734Thr)
|
rs1209512957
|
|
NM_001378454.1(ALMS1):c.11201C>A (p.Ser3734Tyr)
|
|
|
NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter)
|
rs367877017
|
|
NM_001378454.1(ALMS1):c.11204C>G (p.Ser3735Trp)
|
|
|
NM_001378454.1(ALMS1):c.11206G>C (p.Asp3736His)
|
|
|
NM_001378454.1(ALMS1):c.11207A>G (p.Asp3736Gly)
|
|
|
NM_001378454.1(ALMS1):c.11210G>A (p.Cys3737Tyr)
|
rs1553418562
|
|
NM_001378454.1(ALMS1):c.11212C>T (p.Arg3738Trp)
|
|
|
NM_001378454.1(ALMS1):c.11213G>C (p.Arg3738Pro)
|
|
|
NM_001378454.1(ALMS1):c.11214G>A (p.Arg3738=)
|
|
|
NM_001378454.1(ALMS1):c.11214G>T (p.Arg3738=)
|
rs2104107028
|
|
NM_001378454.1(ALMS1):c.11217C>G (p.Pro3739=)
|
|
|
NM_001378454.1(ALMS1):c.11225A>T (p.Glu3742Val)
|
rs1674978014
|
|
NM_001378454.1(ALMS1):c.11233C>T (p.Leu3745=)
|
|
|
NM_001378454.1(ALMS1):c.1123A>G (p.Ile375Val)
|
|
|
NM_001378454.1(ALMS1):c.11240C>G (p.Thr3747Arg)
|
rs2104107105
|
|
NM_001378454.1(ALMS1):c.11246C>A (p.Thr3749Asn)
|
|
|
NM_001378454.1(ALMS1):c.11246C>G (p.Thr3749Ser)
|
|
|
NM_001378454.1(ALMS1):c.11251A>G (p.Thr3751Ala)
|
|
|
NM_001378454.1(ALMS1):c.11253C>A (p.Thr3751=)
|
|
|
NM_001378454.1(ALMS1):c.11253C>G (p.Thr3751=)
|
|
|
NM_001378454.1(ALMS1):c.11254A>C (p.Asn3752His)
|
rs777251736
|
|
NM_001378454.1(ALMS1):c.11260C>G (p.Leu3754Val)
|
|
|
NM_001378454.1(ALMS1):c.11263T>A (p.Ser3755Thr)
|
rs878854995
|
|
NM_001378454.1(ALMS1):c.11268CAC[1] (p.Thr3758del)
|
|
|
NM_001378454.1(ALMS1):c.1126A>C (p.Thr376Pro)
|
rs376750978
|
|
NM_001378454.1(ALMS1):c.11271C>G (p.Thr3757=)
|
rs2104107258
|
|
NM_001378454.1(ALMS1):c.11271C>T (p.Thr3757=)
|
|
|
NM_001378454.1(ALMS1):c.11272A>G (p.Thr3758Ala)
|
|
|
NM_001378454.1(ALMS1):c.11278_11280del (p.Thr3760del)
|
|
|
NM_001378454.1(ALMS1):c.11279C>G (p.Thr3760Ser)
|
rs370381761
|
|
NM_001378454.1(ALMS1):c.11280T>C (p.Thr3760=)
|
rs2104107302
|
|
NM_001378454.1(ALMS1):c.11282T>A (p.Val3761Asp)
|
|
|
NM_001378454.1(ALMS1):c.1128T>C (p.Thr376=)
|
rs887851505
|
|
NM_001378454.1(ALMS1):c.11296T>C (p.Leu3766=)
|
|
|
NM_001378454.1(ALMS1):c.11301C>A (p.Thr3767=)
|
rs2104107409
|
|
NM_001378454.1(ALMS1):c.11304A>G (p.Gln3768=)
|
|
|
NM_001378454.1(ALMS1):c.11304_11307del (p.Thr3769fs)
|
|
|
NM_001378454.1(ALMS1):c.11307A>G (p.Thr3769=)
|
|
|
NM_001378454.1(ALMS1):c.11308G>T (p.Asp3770Tyr)
|
|
|
NM_001378454.1(ALMS1):c.11309A>G (p.Asp3770Gly)
|
rs770147613
|
|
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs)
|
rs780252175
|
|
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs)
|
rs747272625
|
|
NM_001378454.1(ALMS1):c.11319G>A (p.Val3773=)
|
|
|
NM_001378454.1(ALMS1):c.11322T>C (p.Ala3774=)
|
rs2104107524
|
|
NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val)
|
rs771595125
|
|
NM_001378454.1(ALMS1):c.11323C>T (p.Leu3775=)
|
rs771595125
|
|
NM_001378454.1(ALMS1):c.11325G>C (p.Leu3775=)
|
rs1573031104
|
|
NM_001378454.1(ALMS1):c.11326C>T (p.His3776Tyr)
|
rs2104107559
|
|
NM_001378454.1(ALMS1):c.11327A>C (p.His3776Pro)
|
|
|
NM_001378454.1(ALMS1):c.11328C>G (p.His3776Gln)
|
rs45596541
|
|
NM_001378454.1(ALMS1):c.1132_1135dup (p.Asn379fs)
|
|
|
NM_001378454.1(ALMS1):c.11332A>T (p.Arg3778Trp)
|
rs773130069
|
|
NM_001378454.1(ALMS1):c.11334G>A (p.Arg3778=)
|
rs1674981904
|
|
NM_001378454.1(ALMS1):c.11339G>T (p.Ser3780Ile)
|
rs1674982019
|
|
NM_001378454.1(ALMS1):c.11340C>A (p.Ser3780Arg)
|
rs2104107651
|
|
NM_001378454.1(ALMS1):c.11341T>C (p.Ser3781Pro)
|
|
|
NM_001378454.1(ALMS1):c.11343T>C (p.Ser3781=)
|
|
|
NM_001378454.1(ALMS1):c.11349C>A (p.Ser3783=)
|
rs2104107710
|
|
NM_001378454.1(ALMS1):c.1134A>G (p.Glu378=)
|
|
|
NM_001378454.1(ALMS1):c.11354T>C (p.Ile3785Thr)
|
|
|
NM_001378454.1(ALMS1):c.11358C>T (p.Asp3786=)
|
rs1429287634
|
|
NM_001378454.1(ALMS1):c.11363C>G (p.Ala3788Gly)
|
|
|
NM_001378454.1(ALMS1):c.11366G>A (p.Arg3789Gln)
|
rs1167052698
|
|
NM_001378454.1(ALMS1):c.11370G>T (p.Leu3790=)
|
rs1389971461
|
|
NM_001378454.1(ALMS1):c.11372T>C (p.Ile3791Thr)
|
|
|
NM_001378454.1(ALMS1):c.11373T>G (p.Ile3791Met)
|
rs758244336
|
|
NM_001378454.1(ALMS1):c.11374C>T (p.Gln3792Ter)
|
|
|
NM_001378454.1(ALMS1):c.11376A>G (p.Gln3792=)
|
|
|
NM_001378454.1(ALMS1):c.11377G>T (p.Ala3793Ser)
|
|
|
NM_001378454.1(ALMS1):c.11378C>G (p.Ala3793Gly)
|
|
|
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs)
|
rs768759374
|
|
NM_001378454.1(ALMS1):c.1138A>G (p.Ile380Val)
|
|
|
NM_001378454.1(ALMS1):c.11392A>G (p.Arg3798Gly)
|
rs1674983774
|
|
NM_001378454.1(ALMS1):c.11393G>C (p.Arg3798Thr)
|
rs1006564458
|
|
NM_001378454.1(ALMS1):c.11394A>G (p.Arg3798=)
|
|
|
NM_001378454.1(ALMS1):c.11398T>C (p.Cys3800Arg)
|
|
|
NM_001378454.1(ALMS1):c.1139_1140dup (p.Ala381Ter)
|
|
|
NM_001378454.1(ALMS1):c.11400C>A (p.Cys3800Ter)
|
|
|
NM_001378454.1(ALMS1):c.11405C>T (p.Ser3802Leu)
|
|
|
NM_001378454.1(ALMS1):c.11408C>G (p.Pro3803Arg)
|
rs2104108029
|
|
NM_001378454.1(ALMS1):c.11411G>A (p.Arg3804Lys)
|
rs201028172
|
|
NM_001378454.1(ALMS1):c.11411del (p.Arg3804fs)
|
rs1263250868
|
|
NM_001378454.1(ALMS1):c.11413C>A (p.Arg3805=)
|
rs376091780
|
|
NM_001378454.1(ALMS1):c.11414_11418del (p.Arg3805fs)
|
rs2104108070
|
|
NM_001378454.1(ALMS1):c.11420_11424del (p.Lys3807fs)
|
rs1553418609
|
|
NM_001378454.1(ALMS1):c.11422T>C (p.Leu3808=)
|
rs2104108089
|
|
NM_001378454.1(ALMS1):c.11429G>A (p.Ser3810Asn)
|
|
|
NM_001378454.1(ALMS1):c.11430C>A (p.Ser3810Arg)
|
|
|
NM_001378454.1(ALMS1):c.11432G>A (p.Ser3811Asn)
|
|
|
NM_001378454.1(ALMS1):c.11434A>C (p.Ile3812Leu)
|
|
|
NM_001378454.1(ALMS1):c.11438C>G (p.Thr3813Ser)
|
rs1183268252
|
|
NM_001378454.1(ALMS1):c.11441A>G (p.Asn3814Ser)
|
rs763907736
|
|
NM_001378454.1(ALMS1):c.11449_11450del (p.Arg3817fs)
|
rs776599992
|
|
NM_001378454.1(ALMS1):c.11450G>A (p.Arg3817Lys)
|
rs909204912
|
|
NM_001378454.1(ALMS1):c.11455T>A (p.Tyr3819Asn)
|
rs761539239
|
|
NM_001378454.1(ALMS1):c.11460T>A (p.Leu3820=)
|
rs1352073449
|
|
NM_001378454.1(ALMS1):c.1147A>G (p.Lys383Glu)
|
rs1671348306
|
|
NM_001378454.1(ALMS1):c.11481C>G (p.Ser3827Arg)
|
rs549156484
|
|
NM_001378454.1(ALMS1):c.11481C>T (p.Ser3827=)
|
rs549156484
|
|
NM_001378454.1(ALMS1):c.11498C>T (p.Thr3833Ile)
|
rs776648380
|
|
NM_001378454.1(ALMS1):c.11499_11502dup (p.His3835fs)
|
|
|
NM_001378454.1(ALMS1):c.114C>T (p.Asp38=)
|
|
|
NM_001378454.1(ALMS1):c.11508C>G (p.Pro3836=)
|
rs2104108491
|
|
NM_001378454.1(ALMS1):c.1150del (p.Arg384fs)
|
|
|
NM_001378454.1(ALMS1):c.11511A>C (p.Leu3837=)
|
|
|
NM_001378454.1(ALMS1):c.11511A>G (p.Leu3837=)
|
rs374164508
|
|
NM_001378454.1(ALMS1):c.11514G>C (p.Val3838=)
|
rs2104108533
|
|
NM_001378454.1(ALMS1):c.11515A>G (p.Thr3839Ala)
|
rs761578558
|
|
NM_001378454.1(ALMS1):c.11517T>C (p.Thr3839=)
|
|
|
NM_001378454.1(ALMS1):c.11521G>A (p.Glu3841Lys)
|
|
|
NM_001378454.1(ALMS1):c.11541C>T (p.His3847=)
|
rs1490288131
|
|
NM_001378454.1(ALMS1):c.11546A>G (p.Gln3849Arg)
|
rs1674988399
|
|
NM_001378454.1(ALMS1):c.11547+12C>A
|
rs755559102
|
|
NM_001378454.1(ALMS1):c.11547+12C>T
|
rs755559102
|
|
NM_001378454.1(ALMS1):c.11547+15A>G
|
|
|
NM_001378454.1(ALMS1):c.11547+15A>T
|
|
|
NM_001378454.1(ALMS1):c.11547+17_11547+21del
|
rs2104108719
|
|
NM_001378454.1(ALMS1):c.11547+18C>A
|
|
|
NM_001378454.1(ALMS1):c.11547+18C>G
|
rs778165277
|
|
NM_001378454.1(ALMS1):c.11547+1G>A
|
rs1553418638
|
|
NM_001378454.1(ALMS1):c.11547+2T>C
|
|
|
NM_001378454.1(ALMS1):c.11547+3A>T
|
rs1271250182
|
|
NM_001378454.1(ALMS1):c.11547+5A>C
|
rs1181494101
|
|
NM_001378454.1(ALMS1):c.11547+5A>G
|
|
|
NM_001378454.1(ALMS1):c.11547+6T>C
|
|
|
NM_001378454.1(ALMS1):c.11547+7G>A
|
rs1553418641
|
|
NM_001378454.1(ALMS1):c.11547+7G>C
|
rs1553418641
|
|
NM_001378454.1(ALMS1):c.11548-11del
|
|
|
NM_001378454.1(ALMS1):c.11548-12_11548-11del
|
rs767458195
|
|
NM_001378454.1(ALMS1):c.11548-15C>A
|
|
|
NM_001378454.1(ALMS1):c.11548-19A>G
|
|
|
NM_001378454.1(ALMS1):c.11548-19A>T
|
rs760271173
|
|
NM_001378454.1(ALMS1):c.11548-20G>C
|
|
|
NM_001378454.1(ALMS1):c.11548-2A>G
|
|
|
NM_001378454.1(ALMS1):c.11548-4_11549del
|
|
|
NM_001378454.1(ALMS1):c.11548-5del
|
rs775257923
|
|
NM_001378454.1(ALMS1):c.11548-8T>C
|
|
|
NM_001378454.1(ALMS1):c.11548G>T (p.Val3850Leu)
|
|
|
NM_001378454.1(ALMS1):c.11551G>A (p.Ala3851Thr)
|
rs1454003034
|
|
NM_001378454.1(ALMS1):c.11556C>T (p.Asn3852=)
|
|
|
NM_001378454.1(ALMS1):c.11559T>A (p.His3853Gln)
|
rs186141821
|
|
NM_001378454.1(ALMS1):c.11559T>C (p.His3853=)
|
|
|
NM_001378454.1(ALMS1):c.11559T>G (p.His3853Gln)
|
rs186141821
|
|
NM_001378454.1(ALMS1):c.1155T>C (p.Ser385=)
|
|
|
NM_001378454.1(ALMS1):c.11576_11577del (p.Ser3859fs)
|
rs1675623302
|
|
NM_001378454.1(ALMS1):c.11577dup (p.Ile3860fs)
|
rs2104188795
|
|
NM_001378454.1(ALMS1):c.11586T>G (p.Ser3862=)
|
rs2104188842
|
|
NM_001378454.1(ALMS1):c.11589T>C (p.Ser3863=)
|
rs2104188850
|
|
NM_001378454.1(ALMS1):c.11595T>C (p.Ser3865=)
|
rs2104188901
|
|
NM_001378454.1(ALMS1):c.11596A>G (p.Ser3866Gly)
|
rs2104188910
|
|
NM_001378454.1(ALMS1):c.115G>A (p.Asp39Asn)
|
|
|
NM_001378454.1(ALMS1):c.115G>T (p.Asp39Tyr)
|
rs2104058286
|
|
NM_001378454.1(ALMS1):c.115del (p.Asp39fs)
|
|
|
NM_001378454.1(ALMS1):c.11600dup (p.Leu3868fs)
|
rs2104188943
|
|
NM_001378454.1(ALMS1):c.11601C>G (p.Phe3867Leu)
|
rs80009262
|
|
NM_001378454.1(ALMS1):c.11605A>T (p.Ser3869Cys)
|
rs886056318
|
|
NM_001378454.1(ALMS1):c.11610A>C (p.Ser3870=)
|
|
|
NM_001378454.1(ALMS1):c.11612A>T (p.Asn3871Ile)
|
|
|
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs)
|
rs1476205467
|
|
NM_001378454.1(ALMS1):c.11616dup (p.Thr3873fs)
|
rs1553421488
|
|
NM_001378454.1(ALMS1):c.11628C>T (p.Asn3876=)
|
|
|
NM_001378454.1(ALMS1):c.11632C>T (p.Gln3878Ter)
|
rs1675625092
|
|
NM_001378454.1(ALMS1):c.11634G>A (p.Gln3878=)
|
|
|
NM_001378454.1(ALMS1):c.11638_11639del (p.Val3880fs)
|
rs2104189157
|
|
NM_001378454.1(ALMS1):c.11641C>G (p.His3881Asp)
|
|
|
NM_001378454.1(ALMS1):c.11644_11645del (p.Met3882fs)
|
rs1573052379
|
|
NM_001378454.1(ALMS1):c.11645T>C (p.Met3882Thr)
|
|
|
NM_001378454.1(ALMS1):c.11646_11648dup (p.Leu3883dup)
|
rs1468861836
|
|
NM_001378454.1(ALMS1):c.11651_11654del (p.Asn3884fs)
|
|
|
NM_001378454.1(ALMS1):c.1165G>C (p.Asp389His)
|
rs1671348747
|
|
NM_001378454.1(ALMS1):c.11662C>G (p.Gln3888Glu)
|
rs541024346
|
|
NM_001378454.1(ALMS1):c.11665G>A (p.Ala3889Thr)
|
|
|
NM_001378454.1(ALMS1):c.11667A>G (p.Ala3889=)
|
rs767848384
|
|
NM_001378454.1(ALMS1):c.11668+12A>C
|
|
|
NM_001378454.1(ALMS1):c.11668+12A>G
|
rs1553421500
|
|
NM_001378454.1(ALMS1):c.11668+13A>G
|
|
|
NM_001378454.1(ALMS1):c.11668+18A>T
|
|
|
NM_001378454.1(ALMS1):c.11668+1G>T
|
rs1181992959
|
|
NM_001378454.1(ALMS1):c.11668+3A>G
|
rs2104189383
|
|
NM_001378454.1(ALMS1):c.11668+6T>G
|
rs1553421499
|
|
NM_001378454.1(ALMS1):c.11669-11C>T
|
|
|
NM_001378454.1(ALMS1):c.11669-11del
|
rs1261279730
|
|
NM_001378454.1(ALMS1):c.11669-22_11686del
|
|
|
NM_001378454.1(ALMS1):c.11669-3C>T
|
rs767901840
|
|
NM_001378454.1(ALMS1):c.11669-7C>T
|
rs548573570
|
|
NM_001378454.1(ALMS1):c.11673C>T (p.Asn3891=)
|
|
|
NM_001378454.1(ALMS1):c.11676G>A (p.Leu3892=)
|
rs2104193095
|
|
NM_001378454.1(ALMS1):c.11679G>A (p.Glu3893=)
|
|
|
NM_001378454.1(ALMS1):c.11682del (p.Ile3894fs)
|
|
|
NM_001378454.1(ALMS1):c.11688C>A (p.Asn3896Lys)
|
|
|
NM_001378454.1(ALMS1):c.11690G>A (p.Gly3897Asp)
|
|
|
NM_001378454.1(ALMS1):c.11695A>G (p.Lys3899Glu)
|
|
|
NM_001378454.1(ALMS1):c.11700A>C (p.Lys3900Asn)
|
rs1224532344
|
|
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs)
|
rs1553421626
|
|
NM_001378454.1(ALMS1):c.11706T>C (p.Thr3902=)
|
rs773812568
|
|
NM_001378454.1(ALMS1):c.11707C>T (p.Arg3903Ter)
|
rs1290800821
|
|
NM_001378454.1(ALMS1):c.11709A>C (p.Arg3903=)
|
rs2104193292
|
|
NM_001378454.1(ALMS1):c.1170T>C (p.Ala390=)
|
rs2103715989
|
|
NM_001378454.1(ALMS1):c.11710G>T (p.Asp3904Tyr)
|
|
|
NM_001378454.1(ALMS1):c.11711A>G (p.Asp3904Gly)
|
|
|
NM_001378454.1(ALMS1):c.11714T>C (p.Val3905Ala)
|
|
|
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs)
|
rs932538480
|
|
NM_001378454.1(ALMS1):c.11715T>C (p.Val3905=)
|
rs773575203
|
|
NM_001378454.1(ALMS1):c.11715T>G (p.Val3905=)
|
rs773575203
|
|
NM_001378454.1(ALMS1):c.11718del (p.Gly3906_Ile3907insTer)
|
rs1573053394
|
|
NM_001378454.1(ALMS1):c.11723del (p.Thr3908fs)
|
rs1573053412
|
|
NM_001378454.1(ALMS1):c.11724T>C (p.Thr3908=)
|
rs1675661068
|
|
NM_001378454.1(ALMS1):c.11725_11726del (p.Phe3909fs)
|
|
|
NM_001378454.1(ALMS1):c.11726T>C (p.Phe3909Ser)
|
|
|
NM_001378454.1(ALMS1):c.11730A>G (p.Pro3910=)
|
|
|
NM_001378454.1(ALMS1):c.11733T>A (p.Thr3911=)
|
rs766642540
|
|
NM_001378454.1(ALMS1):c.11733T>C (p.Thr3911=)
|
rs766642540
|
|
NM_001378454.1(ALMS1):c.11735del (p.Pro3912fs)
|
|
|
NM_001378454.1(ALMS1):c.11743A>C (p.Ser3915Arg)
|
|
|
NM_001378454.1(ALMS1):c.11747A>G (p.Glu3916Gly)
|
rs2104193436
|
|
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.11755T>G (p.Leu3919Val)
|
rs750372739
|
|
NM_001378454.1(ALMS1):c.11756T>G (p.Leu3919Trp)
|
|
|
NM_001378454.1(ALMS1):c.11760A>G (p.Glu3920=)
|
|
|
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs)
|
rs1247974278
|
|
NM_001378454.1(ALMS1):c.11766C>G (p.Asn3922Lys)
|
rs2104193506
|
|
NM_001378454.1(ALMS1):c.11777CTT[1] (p.Ser3927del)
|
rs1553421645
|
|
NM_001378454.1(ALMS1):c.11778T>C (p.Thr3926=)
|
rs368160921
|
|
NM_001378454.1(ALMS1):c.11778T>G (p.Thr3926=)
|
|
|
NM_001378454.1(ALMS1):c.11784G>A (p.Trp3928Ter)
|
rs1318520999
|
|
NM_001378454.1(ALMS1):c.11785_11792delinsCCGGAAT (p.Ser3929fs)
|
rs1675665426
|
|
NM_001378454.1(ALMS1):c.11787A>T (p.Ser3929=)
|
rs1675665477
|
|
NM_001378454.1(ALMS1):c.1178C>A (p.Ser393Ter)
|
|
|
NM_001378454.1(ALMS1):c.11798G>T (p.Arg3933Leu)
|
rs45576434
|
|
NM_001378454.1(ALMS1):c.11799T>A (p.Arg3933=)
|
rs2104193744
|
|
NM_001378454.1(ALMS1):c.1179A>C (p.Ser393=)
|
rs765376715
|
|
NM_001378454.1(ALMS1):c.1179A>G (p.Ser393=)
|
rs765376715
|
|
NM_001378454.1(ALMS1):c.1179A>T (p.Ser393=)
|
rs765376715
|
|
NM_001378454.1(ALMS1):c.117C>T (p.Asp39=)
|
rs2104058310
|
|
NM_001378454.1(ALMS1):c.11802A>C (p.Glu3934Asp)
|
|
|
NM_001378454.1(ALMS1):c.11809dup (p.Met3937fs)
|
rs757722767
|
|
NM_001378454.1(ALMS1):c.11820C>G (p.Thr3940=)
|
rs565546868
|
|
NM_001378454.1(ALMS1):c.11820C>T (p.Thr3940=)
|
rs565546868
|
|
NM_001378454.1(ALMS1):c.11821G>T (p.Gly3941Cys)
|
rs61741524
|
|
NM_001378454.1(ALMS1):c.11823T>C (p.Gly3941=)
|
|
|
NM_001378454.1(ALMS1):c.11827C>G (p.Pro3943Ala)
|
|
|
NM_001378454.1(ALMS1):c.11835C>T (p.Asp3945=)
|
|
|
NM_001378454.1(ALMS1):c.11840A>G (p.Lys3947Arg)
|
|
|
NM_001378454.1(ALMS1):c.11846_11849del (p.Lys3949fs)
|
rs765718672
|
|
NM_001378454.1(ALMS1):c.11849A>C (p.Lys3950Thr)
|
rs2104194109
|
|
NM_001378454.1(ALMS1):c.11849del (p.Lys3950fs)
|
rs765718672
|
|
NM_001378454.1(ALMS1):c.11850G>A (p.Lys3950=)
|
|
|
NM_001378454.1(ALMS1):c.11850G>T (p.Lys3950Asn)
|
|
|
NM_001378454.1(ALMS1):c.11853C>A (p.Asn3951Lys)
|
|
|
NM_001378454.1(ALMS1):c.11853C>G (p.Asn3951Lys)
|
rs577759803
|
|
NM_001378454.1(ALMS1):c.11853C>T (p.Asn3951=)
|
|
|
NM_001378454.1(ALMS1):c.11853del (p.Asn3951fs)
|
|
|
NM_001378454.1(ALMS1):c.11854A>C (p.Lys3952Gln)
|
rs771282076
|
|
NM_001378454.1(ALMS1):c.11863T>C (p.Ser3955Pro)
|
|
|
NM_001378454.1(ALMS1):c.11865C>T (p.Ser3955=)
|
|
|
NM_001378454.1(ALMS1):c.11867A>C (p.His3956Pro)
|
|
|
NM_001378454.1(ALMS1):c.11871_11872del (p.Gly3958fs)
|
rs2104194220
|
|
NM_001378454.1(ALMS1):c.11872+12A>G
|
rs193922691
|
|
NM_001378454.1(ALMS1):c.11872+17A>G
|
|
|
NM_001378454.1(ALMS1):c.11872+2T>A
|
rs1553421657
|
|
NM_001378454.1(ALMS1):c.11872+9C>G
|
rs768886966
|
|
NM_001378454.1(ALMS1):c.1187A>T (p.Gln396Leu)
|
|
|
NM_001378454.1(ALMS1):c.1191T>C (p.Tyr397=)
|
|
|
NM_001378454.1(ALMS1):c.1192dup (p.Trp398fs)
|
rs1553400778
|
|
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs)
|
rs761292021
|
|
NM_001378454.1(ALMS1):c.1199A>G (p.Gln400Arg)
|
rs372747251
|
|
NM_001378454.1(ALMS1):c.1200G>A (p.Gln400=)
|
|
|
NM_001378454.1(ALMS1):c.1201del (p.Glu401fs)
|
|
|
NM_001378454.1(ALMS1):c.1202A>G (p.Glu401Gly)
|
|
|
NM_001378454.1(ALMS1):c.1208C>G (p.Ser403Ter)
|
rs1248541208
|
|
NM_001378454.1(ALMS1):c.1209A>G (p.Ser403=)
|
rs2103716197
|
|
NM_001378454.1(ALMS1):c.120A>T (p.Val40=)
|
|
|
NM_001378454.1(ALMS1):c.1211C>G (p.Ser404Cys)
|
|
|
NM_001378454.1(ALMS1):c.1219G>A (p.Ala407Thr)
|
rs2103716227
|
|
NM_001378454.1(ALMS1):c.121G>A (p.Val41Met)
|
|
|
NM_001378454.1(ALMS1):c.1226C>G (p.Thr409Arg)
|
|
|
NM_001378454.1(ALMS1):c.1227A>C (p.Thr409=)
|
rs990553333
|
|
NM_001378454.1(ALMS1):c.1227A>G (p.Thr409=)
|
rs990553333
|
|
NM_001378454.1(ALMS1):c.12299-11C>G
|
|
|
NM_001378454.1(ALMS1):c.12299-14C>T
|
rs1352077204
|
|
NM_001378454.1(ALMS1):c.12299-15T>C
|
rs1553422033
|
|
NM_001378454.1(ALMS1):c.12299-15_12299-12del
|
rs775452962
|
|
NM_001378454.1(ALMS1):c.12299-18C>T
|
|
|
NM_001378454.1(ALMS1):c.12299-1G>A
|
rs1313101326
|
|
NM_001378454.1(ALMS1):c.12299-1G>C
|
|
|
NM_001378454.1(ALMS1):c.12299-1del
|
|
|
NM_001378454.1(ALMS1):c.12299-3T>C
|
rs1553422034
|
|
NM_001378454.1(ALMS1):c.12299-4C>T
|
|
|
NM_001378454.1(ALMS1):c.1229_1230del (p.Tyr410fs)
|
rs764503373
|
|
NM_001378454.1(ALMS1):c.12300C>G (p.Val4100=)
|
|
|
NM_001378454.1(ALMS1):c.12302_12305del (p.Phe4101fs)
|
rs1553422035
|
|
NM_001378454.1(ALMS1):c.12303C>T (p.Phe4101=)
|
|
|
NM_001378454.1(ALMS1):c.12305T>A (p.Leu4102Gln)
|
|
|
NM_001378454.1(ALMS1):c.12306G>C (p.Leu4102=)
|
rs2104202740
|
|
NM_001378454.1(ALMS1):c.12308_12310del (p.Ala4103_Ile4104delinsVal)
|
rs1553422036
|
|
NM_001378454.1(ALMS1):c.1230T>C (p.Tyr410=)
|
|
|
NM_001378454.1(ALMS1):c.12313C>T (p.Gln4105Ter)
|
|
|
NM_001378454.1(ALMS1):c.12314A>C (p.Gln4105Pro)
|
|
|
NM_001378454.1(ALMS1):c.12316A>G (p.Lys4106Glu)
|
|
|
NM_001378454.1(ALMS1):c.12318G>A (p.Lys4106=)
|
|
|
NM_001378454.1(ALMS1):c.12322A>G (p.Lys4108Glu)
|
|
|
NM_001378454.1(ALMS1):c.12323del (p.Lys4108fs)
|
rs1675739925
|
|
NM_001378454.1(ALMS1):c.12324G>A (p.Lys4108=)
|
|
|
NM_001378454.1(ALMS1):c.12328A>G (p.Ile4110Val)
|
|
|
NM_001378454.1(ALMS1):c.12339G>A (p.Lys4113=)
|
rs2104202897
|
|
NM_001378454.1(ALMS1):c.12340del (p.Glu4114fs)
|
rs2104202909
|
|
NM_001378454.1(ALMS1):c.12342A>C (p.Glu4114Asp)
|
|
|
NM_001378454.1(ALMS1):c.12346A>T (p.Ile4116Phe)
|
|
|
NM_001378454.1(ALMS1):c.1234A>G (p.Thr412Ala)
|
|
|
NM_001378454.1(ALMS1):c.12359A>G (p.Lys4120Arg)
|
|
|
NM_001378454.1(ALMS1):c.12360A>T (p.Lys4120Asn)
|
rs2104203046
|
|
NM_001378454.1(ALMS1):c.12361C>T (p.Arg4121Trp)
|
|
|
NM_001378454.1(ALMS1):c.12362+16C>G
|
rs1553422061
|
|
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+1G>A
|
rs2104203068
|
|
NM_001378454.1(ALMS1):c.12362+20A>T
|
|
|
NM_001378454.1(ALMS1):c.12362+3A>G
|
|
|
NM_001378454.1(ALMS1):c.12363-11C>G
|
|
|
NM_001378454.1(ALMS1):c.12363-20T>C
|
|
|
NM_001378454.1(ALMS1):c.12363-2A>C
|
rs2104216032
|
|
NM_001378454.1(ALMS1):c.12363-5C>G
|
rs774448248
|
|
NM_001378454.1(ALMS1):c.12363-6T>G
|
rs1553422641
|
|
NM_001378454.1(ALMS1):c.1236C>T (p.Thr412=)
|
|
|
NM_001378454.1(ALMS1):c.1237+10C>G
|
rs1291450244
|
|
NM_001378454.1(ALMS1):c.1237+10C>T
|
|
|
NM_001378454.1(ALMS1):c.1237+14T>C
|
rs1482335275
|
|
NM_001378454.1(ALMS1):c.1237+16C>G
|
|
|
NM_001378454.1(ALMS1):c.1237+18T>G
|
|
|
NM_001378454.1(ALMS1):c.1237+2T>C
|
rs916056435
|
|
NM_001378454.1(ALMS1):c.1237+2T>G
|
rs916056435
|
|
NM_001378454.1(ALMS1):c.1237+4A>G
|
rs747868844
|
|
NM_001378454.1(ALMS1):c.1237+9C>T
|
rs201471551
|
|
NM_001378454.1(ALMS1):c.12373C>T (p.Gln4125Ter)
|
rs1174712970
|
|
NM_001378454.1(ALMS1):c.1238-11C>G
|
rs1553400951
|
|
NM_001378454.1(ALMS1):c.1238-11C>T
|
rs1553400951
|
|
NM_001378454.1(ALMS1):c.1238-12C>G
|
|
|
NM_001378454.1(ALMS1):c.1238-12C>T
|
|
|
NM_001378454.1(ALMS1):c.1238-13T>A
|
|
|
NM_001378454.1(ALMS1):c.1238-16G>A
|
|
|
NM_001378454.1(ALMS1):c.1238-17T>C
|
|
|
NM_001378454.1(ALMS1):c.1238-4G>A
|
|
|
NM_001378454.1(ALMS1):c.1238-5T>C
|
rs1671380405
|
|
NM_001378454.1(ALMS1):c.12382G>A (p.Glu4128Lys)
|
|
|
NM_001378454.1(ALMS1):c.12387A>G (p.Val4129=)
|
|
|
NM_001378454.1(ALMS1):c.12389A>T (p.Gln4130Leu)
|
rs371587051
|
|
NM_001378454.1(ALMS1):c.12391A>T (p.Lys4131Ter)
|
|
|
NM_001378454.1(ALMS1):c.12394A>C (p.Lys4132Gln)
|
|
|
NM_001378454.1(ALMS1):c.12394_12397del (p.Lys4132fs)
|
rs776401197
|
|
NM_001378454.1(ALMS1):c.12394_12397dup (p.Arg4133fs)
|
rs776401197
|
|
NM_001378454.1(ALMS1):c.12396G>A (p.Lys4132=)
|
|
|
NM_001378454.1(ALMS1):c.12397A>T (p.Arg4133Ter)
|
|
|
NM_001378454.1(ALMS1):c.12398_12401del (p.Arg4133fs)
|
rs761223068
|
|
NM_001378454.1(ALMS1):c.12399AGA[2] (p.Glu4136del)
|
rs764575993
|
|
NM_001378454.1(ALMS1):c.123G>C (p.Val41=)
|
|
|
NM_001378454.1(ALMS1):c.123G>T (p.Val41=)
|
|
|
NM_001378454.1(ALMS1):c.123_124delinsCA (p.Val42Ile)
|
rs1670514979
|
|
NM_001378454.1(ALMS1):c.12400G>A (p.Glu4134Lys)
|
|
|
NM_001378454.1(ALMS1):c.12402A>G (p.Glu4134=)
|
rs1675868945
|
|
NM_001378454.1(ALMS1):c.12409A>T (p.Lys4137Ter)
|
|
|
NM_001378454.1(ALMS1):c.12411_12415del (p.Arg4138fs)
|
rs2104216255
|
|
NM_001378454.1(ALMS1):c.12416A>C (p.Lys4139Thr)
|
|
|
NM_001378454.1(ALMS1):c.12417A>G (p.Lys4139=)
|
rs377361240
|
|
NM_001378454.1(ALMS1):c.12417A>T (p.Lys4139Asn)
|
|
|
NM_001378454.1(ALMS1):c.12423A>G (p.Glu4141=)
|
rs2104216319
|
|
NM_001378454.1(ALMS1):c.12424T>C (p.Tyr4142His)
|
rs954710649
|
|
NM_001378454.1(ALMS1):c.12425A>T (p.Tyr4142Phe)
|
rs775032572
|
|
NM_001378454.1(ALMS1):c.12437G>A (p.Arg4146Gln)
|
|
|
NM_001378454.1(ALMS1):c.1243C>T (p.Leu415=)
|
rs1388334173
|
|
NM_001378454.1(ALMS1):c.12441G>A (p.Leu4147=)
|
|
|
NM_001378454.1(ALMS1):c.12443G>A (p.Arg4148Gln)
|
|
|
NM_001378454.1(ALMS1):c.1244T>C (p.Leu415Pro)
|
|
|
NM_001378454.1(ALMS1):c.12455A>T (p.Tyr4152Phe)
|
|
|
NM_001378454.1(ALMS1):c.1245G>C (p.Leu415=)
|
|
|
NM_001378454.1(ALMS1):c.1245G>T (p.Leu415=)
|
rs1553400953
|
|
NM_001378454.1(ALMS1):c.12460_12461del (p.Lys4154fs)
|
|
|
NM_001378454.1(ALMS1):c.12461del (p.Lys4154fs)
|
rs1553422659
|
|
NM_001378454.1(ALMS1):c.12462+12C>T
|
rs1553422680
|
|
NM_001378454.1(ALMS1):c.12462+12_12462+18del
|
rs1374364094
|
|
NM_001378454.1(ALMS1):c.12462+13T>G
|
|
|
NM_001378454.1(ALMS1):c.12462+14C>T
|
rs2104216544
|
|
NM_001378454.1(ALMS1):c.12462+18C>T
|
|
|
NM_001378454.1(ALMS1):c.12462+19T>C
|
rs1309452497
|
|
NM_001378454.1(ALMS1):c.12462+1G>T
|
|
|
NM_001378454.1(ALMS1):c.12462+1del
|
rs750907119
|
|
NM_001378454.1(ALMS1):c.12462+20A>G
|
|
|
NM_001378454.1(ALMS1):c.12462+3C>T
|
rs1553422676
|
|
NM_001378454.1(ALMS1):c.12462+5G>A
|
rs1553422678
|
|
NM_001378454.1(ALMS1):c.12462+6T>C
|
rs2104216517
|
|
NM_001378454.1(ALMS1):c.12463-10T>C
|
rs754172101
|
|
NM_001378454.1(ALMS1):c.12463-11T>A
|
|
|
NM_001378454.1(ALMS1):c.12463-11T>G
|
|
|
NM_001378454.1(ALMS1):c.12463-11_12463-7del
|
rs1553422758
|
|
NM_001378454.1(ALMS1):c.12463-16T>G
|
|
|
NM_001378454.1(ALMS1):c.12463-1G>C
|
|
|
NM_001378454.1(ALMS1):c.12463-20G>A
|
|
|
NM_001378454.1(ALMS1):c.12463-20G>C
|
|
|
NM_001378454.1(ALMS1):c.12463-5T>C
|
rs2104219383
|
|
NM_001378454.1(ALMS1):c.12463-7T>C
|
|
|
NM_001378454.1(ALMS1):c.12463-9C>A
|
|
|
NM_001378454.1(ALMS1):c.12463-9C>G
|
rs1553422761
|
|
NM_001378454.1(ALMS1):c.12465A>G (p.Arg4155=)
|
|
|
NM_001378454.1(ALMS1):c.12466G>A (p.Val4156Met)
|
|
|
NM_001378454.1(ALMS1):c.1247A>G (p.Gln416Arg)
|
rs777072028
|
|
NM_001378454.1(ALMS1):c.1247del (p.Gln416fs)
|
rs1553400956
|
|
NM_001378454.1(ALMS1):c.12498C>T (p.Pro4166=)
|
|
|
NM_001378454.1(ALMS1):c.1249G>A (p.Gly417Arg)
|
|
|
NM_001378454.1(ALMS1):c.12502G>A (p.Asp4168Asn)
|
|
|
NM_001378454.1(ALMS1):c.12507A>G (p.Ter4169Trp)
|
|
|
NM_001378454.1(ALMS1):c.1251G>A (p.Gly417=)
|
|
|
NM_001378454.1(ALMS1):c.1254G>A (p.Lys418=)
|
|
|
NM_001378454.1(ALMS1):c.1254G>T (p.Lys418Asn)
|
|
|
NM_001378454.1(ALMS1):c.1255G>T (p.Val419Phe)
|
rs1671381064
|
|
NM_001378454.1(ALMS1):c.1256T>G (p.Val419Gly)
|
|
|
NM_001378454.1(ALMS1):c.1259A>C (p.Glu420Ala)
|
|
|
NM_001378454.1(ALMS1):c.125T>A (p.Val42Asp)
|
rs1337322908
|
|
NM_001378454.1(ALMS1):c.1264G>A (p.Asp422Asn)
|
rs886056297
|
|
NM_001378454.1(ALMS1):c.1266C>A (p.Asp422Glu)
|
rs1396189205
|
|
NM_001378454.1(ALMS1):c.1266C>T (p.Asp422=)
|
rs1396189205
|
|
NM_001378454.1(ALMS1):c.1267G>C (p.Val423Leu)
|
rs45630557
|
|
NM_001378454.1(ALMS1):c.126C>A (p.Val42=)
|
rs766762252
|
|
NM_001378454.1(ALMS1):c.126C>G (p.Val42=)
|
|
|
NM_001378454.1(ALMS1):c.1275T>C (p.Thr425=)
|
rs2103720411
|
|
NM_001378454.1(ALMS1):c.1276C>T (p.Leu426=)
|
rs2103720416
|
|
NM_001378454.1(ALMS1):c.1291G>T (p.Glu431Ter)
|
rs2103720460
|
|
NM_001378454.1(ALMS1):c.1297G>T (p.Ala433Ser)
|
rs751744947
|
|
NM_001378454.1(ALMS1):c.1313A>C (p.Glu438Ala)
|
rs753799992
|
|
NM_001378454.1(ALMS1):c.1324G>T (p.Glu442Ter)
|
|
|
NM_001378454.1(ALMS1):c.1326A>G (p.Glu442=)
|
rs886056298
|
|
NM_001378454.1(ALMS1):c.1327C>T (p.Leu443=)
|
rs1671382711
|
|
NM_001378454.1(ALMS1):c.1335_1338del (p.Arg445fs)
|
rs2103720605
|
|
NM_001378454.1(ALMS1):c.1336A>C (p.Lys446Gln)
|
|
|
NM_001378454.1(ALMS1):c.1336A>T (p.Lys446Ter)
|
|
|
NM_001378454.1(ALMS1):c.1338+11A>G
|
rs1553400967
|
|
NM_001378454.1(ALMS1):c.1338+20T>A
|
rs1466354765
|
|
NM_001378454.1(ALMS1):c.1338+20T>C
|
|
|
NM_001378454.1(ALMS1):c.1338+3G>A
|
|
|
NM_001378454.1(ALMS1):c.1338+7C>G
|
|
|
NM_001378454.1(ALMS1):c.1338+8A>G
|
rs2103720635
|
|
NM_001378454.1(ALMS1):c.1339-12G>C
|
rs1260375872
|
|
NM_001378454.1(ALMS1):c.1339-16A>T
|
|
|
NM_001378454.1(ALMS1):c.1339-20C>T
|
rs1553401589
|
|
NM_001378454.1(ALMS1):c.1339-5A>G
|
rs373469023
|
|
NM_001378454.1(ALMS1):c.1339-5A>T
|
rs373469023
|
|
NM_001378454.1(ALMS1):c.1339-6C>T
|
rs1553401597
|
|
NM_001378454.1(ALMS1):c.1339-8C>T
|
rs1553401596
|
|
NM_001378454.1(ALMS1):c.133G>A (p.Glu45Lys)
|
|
|
NM_001378454.1(ALMS1):c.1340C>G (p.Pro447Arg)
|
rs886056299
|
|
NM_001378454.1(ALMS1):c.1343C>G (p.Thr448Arg)
|
rs774335945
|
|
NM_001378454.1(ALMS1):c.1343C>T (p.Thr448Ile)
|
|
|
NM_001378454.1(ALMS1):c.1348G>T (p.Glu450Ter)
|
rs2103734325
|
|
NM_001378454.1(ALMS1):c.1349_1350del (p.Glu450fs)
|
|
|
NM_001378454.1(ALMS1):c.1350G>A (p.Glu450=)
|
|
|
NM_001378454.1(ALMS1):c.1352C>A (p.Ser451Ter)
|
|
|
NM_001378454.1(ALMS1):c.1352C>T (p.Ser451Leu)
|
|
|
NM_001378454.1(ALMS1):c.1359T>A (p.Tyr453Ter)
|
rs2103734375
|
|
NM_001378454.1(ALMS1):c.135G>A (p.Glu45=)
|
rs765418565
|
|
NM_001378454.1(ALMS1):c.135G>T (p.Glu45Asp)
|
|
|
NM_001378454.1(ALMS1):c.135_143del (p.43VEE[1])
|
|
|
NM_001378454.1(ALMS1):c.135_143dup (p.Glu48_Glu49insValGluGlu)
|
|
|
NM_001378454.1(ALMS1):c.1360C>T (p.His454Tyr)
|
|
|
NM_001378454.1(ALMS1):c.1364C>G (p.Ser455Cys)
|
|
|
NM_001378454.1(ALMS1):c.1365T>C (p.Ser455=)
|
|
|
NM_001378454.1(ALMS1):c.1369G>T (p.Asp457Tyr)
|
rs1671513924
|
|
NM_001378454.1(ALMS1):c.1371T>C (p.Asp457=)
|
|
|
NM_001378454.1(ALMS1):c.137T>C (p.Val46Ala)
|
|
|
NM_001378454.1(ALMS1):c.137_139del (p.Val46del)
|
rs1553396198
|
|
NM_001378454.1(ALMS1):c.137_145dup (p.43VEE[3])
|
rs1286794312
|
|
NM_001378454.1(ALMS1):c.1384A>C (p.Arg462=)
|
|
|
NM_001378454.1(ALMS1):c.1386G>T (p.Arg462Ser)
|
rs749794703
|
|
NM_001378454.1(ALMS1):c.1386dup (p.Met463fs)
|
|
|
NM_001378454.1(ALMS1):c.138G>A (p.Val46=)
|
|
|
NM_001378454.1(ALMS1):c.1392T>C (p.Ser464=)
|
|
|
NM_001378454.1(ALMS1):c.1393C>T (p.Pro465Ser)
|
|
|
NM_001378454.1(ALMS1):c.1395T>C (p.Pro465=)
|
rs2103734489
|
|
NM_001378454.1(ALMS1):c.1398C>T (p.Asp466=)
|
|
|
NM_001378454.1(ALMS1):c.1401T>C (p.Thr467=)
|
rs772485366
|
|
NM_001378454.1(ALMS1):c.1401T>G (p.Thr467=)
|
rs772485366
|
|
NM_001378454.1(ALMS1):c.1403_1404del (p.Val468fs)
|
rs1558642193
|
|
NM_001378454.1(ALMS1):c.1404G>A (p.Val468=)
|
|
|
NM_001378454.1(ALMS1):c.1413del (p.Pro472fs)
|
rs2103734574
|
|
NM_001378454.1(ALMS1):c.141G>A (p.Glu47=)
|
|
|
NM_001378454.1(ALMS1):c.1426_1431del (p.Lys476_Ala477del)
|
rs1553401631
|
|
NM_001378454.1(ALMS1):c.142G>C (p.Glu48Gln)
|
|
|
NM_001378454.1(ALMS1):c.1431A>G (p.Ala477=)
|
|
|
NM_001378454.1(ALMS1):c.1432+11A>G
|
rs947794687
|
|
NM_001378454.1(ALMS1):c.1432+12A>G
|
rs1553401640
|
|
NM_001378454.1(ALMS1):c.1432+14G>A
|
rs1204922039
|
|
NM_001378454.1(ALMS1):c.1432+14G>C
|
|
|
NM_001378454.1(ALMS1):c.1432+16A>G
|
rs1553401642
|
|
NM_001378454.1(ALMS1):c.1432+18A>G
|
|
|
NM_001378454.1(ALMS1):c.1432+19T>C
|
|
|
NM_001378454.1(ALMS1):c.1432+1G>T
|
rs1553401634
|
|
NM_001378454.1(ALMS1):c.1432+2T>A
|
rs2103734661
|
|
NM_001378454.1(ALMS1):c.1432+2T>C
|
|
|
NM_001378454.1(ALMS1):c.1432+2_1432+15del
|
rs1203193062
|
|
NM_001378454.1(ALMS1):c.1433-10T>C
|
|
|
NM_001378454.1(ALMS1):c.1433-14C>A
|
rs1553403232
|
|
NM_001378454.1(ALMS1):c.1433-2A>G
|
rs2103770992
|
|
NM_001378454.1(ALMS1):c.1433-8_1433-7del
|
rs2103770966
|
|
NM_001378454.1(ALMS1):c.1436A>G (p.Asp479Gly)
|
rs1671839144
|
|
NM_001378454.1(ALMS1):c.1437_1450del (p.Asp479fs)
|
rs1572931120
|
|
NM_001378454.1(ALMS1):c.1440T>C (p.Thr480=)
|
rs2103771035
|
|
NM_001378454.1(ALMS1):c.1447G>T (p.Gly483Ter)
|
rs2103771067
|
|
NM_001378454.1(ALMS1):c.1448G>C (p.Gly483Ala)
|
|
|
NM_001378454.1(ALMS1):c.144A>G (p.Glu48=)
|
rs1670515874
|
|
NM_001378454.1(ALMS1):c.1451G>C (p.Gly484Ala)
|
|
|
NM_001378454.1(ALMS1):c.1451G>T (p.Gly484Val)
|
|
|
NM_001378454.1(ALMS1):c.1455A>T (p.Ile485=)
|
|
|
NM_001378454.1(ALMS1):c.1461A>C (p.Lys487Asn)
|
rs1671840179
|
|
NM_001378454.1(ALMS1):c.1464T>G (p.Val488=)
|
rs2103771151
|
|
NM_001378454.1(ALMS1):c.1466_1469del (p.Thr489fs)
|
rs2103771168
|
|
NM_001378454.1(ALMS1):c.1473C>G (p.Ser491=)
|
rs2103771196
|
|
NM_001378454.1(ALMS1):c.1480A>T (p.Lys494Ter)
|
rs2103771218
|
|
NM_001378454.1(ALMS1):c.1485A>G (p.Ser495=)
|
|
|
NM_001378454.1(ALMS1):c.148_149delinsAA (p.Ala50Lys)
|
rs2104058681
|
|
NM_001378454.1(ALMS1):c.1494T>C (p.Thr498=)
|
|
|
NM_001378454.1(ALMS1):c.1495A>G (p.Thr499Ala)
|
rs2103771259
|
|
NM_001378454.1(ALMS1):c.1497C>T (p.Thr499=)
|
rs2103771265
|
|
NM_001378454.1(ALMS1):c.1499_1500insGGG (p.Thr500_Pro501insGly)
|
|
|
NM_001378454.1(ALMS1):c.149del (p.Ala50fs)
|
rs2104058704
|
|
NM_001378454.1(ALMS1):c.150G>C (p.Ala50=)
|
rs757262099
|
|
NM_001378454.1(ALMS1):c.1518T>C (p.Ile506=)
|
|
|
NM_001378454.1(ALMS1):c.1518del (p.Ile506fs)
|
|
|
NM_001378454.1(ALMS1):c.1520G>C (p.Gly507Ala)
|
rs1553403257
|
|
NM_001378454.1(ALMS1):c.1521A>G (p.Gly507=)
|
|
|
NM_001378454.1(ALMS1):c.1540C>T (p.Leu514Phe)
|
rs2103771365
|
|
NM_001378454.1(ALMS1):c.1545G>A (p.Glu515=)
|
|
|
NM_001378454.1(ALMS1):c.1548C>T (p.Asp516=)
|
rs202002052
|
|
NM_001378454.1(ALMS1):c.1549del (p.Leu517fs)
|
|
|
NM_001378454.1(ALMS1):c.1552T>C (p.Ser518Pro)
|
|
|
NM_001378454.1(ALMS1):c.1556A>G (p.Gln519Arg)
|
rs2103771395
|
|
NM_001378454.1(ALMS1):c.1557del (p.Gln519fs)
|
rs1553403262
|
|
NM_001378454.1(ALMS1):c.1559T>G (p.Leu520Trp)
|
|
|
NM_001378454.1(ALMS1):c.1562C>G (p.Ala521Gly)
|
|
|
NM_001378454.1(ALMS1):c.1564G>A (p.Val522Ile)
|
|
|
NM_001378454.1(ALMS1):c.1568G>A (p.Ser523Asn)
|
|
|
NM_001378454.1(ALMS1):c.1576C>T (p.Leu526=)
|
rs2103170396
|
|
NM_001378454.1(ALMS1):c.1579G>T (p.Glu527Ter)
|
|
|
NM_001378454.1(ALMS1):c.157G>A (p.Glu53Lys)
|
rs2104058756
|
|
NM_001378454.1(ALMS1):c.1584T>C (p.Thr528=)
|
rs2103771543
|
|
NM_001378454.1(ALMS1):c.1589C>G (p.Thr530Ser)
|
|
|
NM_001378454.1(ALMS1):c.1591G>A (p.Gly531Ser)
|
|
|
NM_001378454.1(ALMS1):c.1594C>T (p.Gln532Ter)
|
|
|
NM_001378454.1(ALMS1):c.1599C>T (p.His533=)
|
rs2103771566
|
|
NM_001378454.1(ALMS1):c.1601dup (p.Thr534_Asp535insTer)
|
rs1572931360
|
|
NM_001378454.1(ALMS1):c.1602T>G (p.Thr534=)
|
rs757654976
|
|
NM_001378454.1(ALMS1):c.160T>G (p.Leu54Val)
|
rs745737550
|
|
NM_001378454.1(ALMS1):c.1610_1611del (p.Leu537fs)
|
rs1553403282
|
|
NM_001378454.1(ALMS1):c.161T>C (p.Leu54Ser)
|
rs755760721
|
|
NM_001378454.1(ALMS1):c.1623A>G (p.Thr541=)
|
rs893593330
|
|
NM_001378454.1(ALMS1):c.1625T>A (p.Leu542Ter)
|
rs1347176614
|
|
NM_001378454.1(ALMS1):c.1625T>G (p.Leu542Ter)
|
|
|
NM_001378454.1(ALMS1):c.1630G>A (p.Asp544Asn)
|
rs1267086121
|
|
NM_001378454.1(ALMS1):c.1632T>C (p.Asp544=)
|
rs2103771689
|
|
NM_001378454.1(ALMS1):c.163G>A (p.Asp55Asn)
|
|
|
NM_001378454.1(ALMS1):c.1641A>C (p.Leu547=)
|
rs1200801072
|
|
NM_001378454.1(ALMS1):c.1645G>T (p.Glu549Ter)
|
|
|
NM_001378454.1(ALMS1):c.1658_1659del (p.Lys553fs)
|
rs2103771766
|
|
NM_001378454.1(ALMS1):c.1659A>G (p.Lys553=)
|
rs2103771780
|
|
NM_001378454.1(ALMS1):c.165C>T (p.Asp55=)
|
|
|
NM_001378454.1(ALMS1):c.1667C>G (p.Ala556Gly)
|
rs2103771804
|
|
NM_001378454.1(ALMS1):c.1671T>C (p.Ile557=)
|
rs2103771826
|
|
NM_001378454.1(ALMS1):c.1673del (p.Pro558fs)
|
|
|
NM_001378454.1(ALMS1):c.1674T>C (p.Pro558=)
|
|
|
NM_001378454.1(ALMS1):c.167C>G (p.Ser56Cys)
|
rs2104058882
|
|
NM_001378454.1(ALMS1):c.1681G>A (p.Ala561Thr)
|
rs776104521
|
|
NM_001378454.1(ALMS1):c.1682C>G (p.Ala561Gly)
|
|
|
NM_001378454.1(ALMS1):c.168dup (p.Asp57fs)
|
rs1269948810
|
|
NM_001378454.1(ALMS1):c.1699A>G (p.Thr567Ala)
|
|
|
NM_001378454.1(ALMS1):c.16C>T (p.Leu6=)
|
rs2104056226
|
|
NM_001378454.1(ALMS1):c.1700C>G (p.Thr567Arg)
|
rs752312999
|
|
NM_001378454.1(ALMS1):c.1704A>C (p.Pro568=)
|
rs886056300
|
|
NM_001378454.1(ALMS1):c.1704A>G (p.Pro568=)
|
rs886056300
|
|
NM_001378454.1(ALMS1):c.1705A>G (p.Thr569Ala)
|
rs1671846580
|
|
NM_001378454.1(ALMS1):c.1707A>T (p.Thr569=)
|
|
|
NM_001378454.1(ALMS1):c.1713C>T (p.Leu571=)
|
|
|
NM_001378454.1(ALMS1):c.171C>G (p.Asp57Glu)
|
rs2104058944
|
|
NM_001378454.1(ALMS1):c.1721C>T (p.Ser574Phe)
|
|
|
NM_001378454.1(ALMS1):c.1722C>A (p.Ser574=)
|
|
|
NM_001378454.1(ALMS1):c.1724_1725delinsCTAGT (p.His575delinsProSer)
|
rs1064795650
|
|
NM_001378454.1(ALMS1):c.1725C>T (p.His575=)
|
|
|
NM_001378454.1(ALMS1):c.1727C>G (p.Ser576Ter)
|
rs756389027
|
|
NM_001378454.1(ALMS1):c.1729C>T (p.His577Tyr)
|
rs1671847160
|
|
NM_001378454.1(ALMS1):c.1736G>T (p.Gly579Val)
|
rs2103772041
|
|
NM_001378454.1(ALMS1):c.1737G>A (p.Gly579=)
|
rs1294566237
|
|
NM_001378454.1(ALMS1):c.1737G>T (p.Gly579=)
|
|
|
NM_001378454.1(ALMS1):c.1740G>A (p.Lys580=)
|
rs2103772066
|
|
NM_001378454.1(ALMS1):c.1743C>T (p.Pro581=)
|
rs1671847592
|
|
NM_001378454.1(ALMS1):c.1744A>C (p.Ser582Arg)
|
|
|
NM_001378454.1(ALMS1):c.174T>C (p.Ser58=)
|
rs2104058977
|
|
NM_001378454.1(ALMS1):c.1754A>C (p.Tyr585Ser)
|
|
|
NM_001378454.1(ALMS1):c.1756C>T (p.Gln586Ter)
|
rs2103772104
|
|
NM_001378454.1(ALMS1):c.1761G>C (p.Gln587His)
|
rs1553403313
|
|
NM_001378454.1(ALMS1):c.1762G>A (p.Gly588Ser)
|
|
|
NM_001378454.1(ALMS1):c.1772A>G (p.Asp591Gly)
|
|
|
NM_001378454.1(ALMS1):c.1778A>G (p.His593Arg)
|
rs2103772175
|
|
NM_001378454.1(ALMS1):c.1782A>G (p.Leu594=)
|
rs2103772183
|
|
NM_001378454.1(ALMS1):c.1785T>C (p.Thr595=)
|
|
|
NM_001378454.1(ALMS1):c.1785dup (p.Glu596Ter)
|
|
|
NM_001378454.1(ALMS1):c.1786del (p.Glu596fs)
|
|
|
NM_001378454.1(ALMS1):c.1791_1798dup (p.Lys600delinsArgLeuTer)
|
rs398122991
|
|
NM_001378454.1(ALMS1):c.1792G>A (p.Ala598Thr)
|
rs776537010
|
|
NM_001378454.1(ALMS1):c.1806A>G (p.Ser602=)
|
rs1671848772
|
|
NM_001378454.1(ALMS1):c.1807G>A (p.Ala603Thr)
|
rs745501026
|
|
NM_001378454.1(ALMS1):c.1807G>T (p.Ala603Ser)
|
|
|
NM_001378454.1(ALMS1):c.1809T>C (p.Ala603=)
|
rs1558647545
|
|
NM_001378454.1(ALMS1):c.1812T>C (p.Ala604=)
|
rs2103772267
|
|
NM_001378454.1(ALMS1):c.1813C>T (p.Pro605Ser)
|
rs1671849058
|
|
NM_001378454.1(ALMS1):c.1816G>A (p.Gly606Arg)
|
rs1553403321
|
|
NM_001378454.1(ALMS1):c.1816G>T (p.Gly606Ter)
|
rs1553403321
|
|
NM_001378454.1(ALMS1):c.1818A>G (p.Gly606=)
|
rs769637375
|
|
NM_001378454.1(ALMS1):c.1821A>T (p.Leu607=)
|
rs1246038121
|
|
NM_001378454.1(ALMS1):c.1828C>G (p.Gln610Glu)
|
|
|
NM_001378454.1(ALMS1):c.1832C>G (p.Thr611Arg)
|
rs1382642304
|
|
NM_001378454.1(ALMS1):c.1836T>C (p.Thr612=)
|
rs2103772388
|
|
NM_001378454.1(ALMS1):c.1837_1838delinsAA (p.Gly613Asn)
|
rs2103772404
|
|
NM_001378454.1(ALMS1):c.1839C>A (p.Gly613=)
|
rs1671849935
|
|
NM_001378454.1(ALMS1):c.183G>A (p.Gly61=)
|
rs1670518062
|
|
NM_001378454.1(ALMS1):c.183G>T (p.Gly61=)
|
rs1670518062
|
|
NM_001378454.1(ALMS1):c.1844C>G (p.Ser615Ter)
|
rs2103772444
|
|
NM_001378454.1(ALMS1):c.1847C>T (p.Thr616Ile)
|
rs2103772456
|
|
NM_001378454.1(ALMS1):c.1848T>G (p.Thr616=)
|
|
|
NM_001378454.1(ALMS1):c.184C>T (p.Pro62Ser)
|
|
|
NM_001378454.1(ALMS1):c.1850dup (p.Thr618fs)
|
|
|
NM_001378454.1(ALMS1):c.1852A>G (p.Thr618Ala)
|
|
|
NM_001378454.1(ALMS1):c.1854_1856dup (p.Ser619_Thr620insSer)
|
|
|
NM_001378454.1(ALMS1):c.1859C>G (p.Thr620Ser)
|
rs1447523847
|
|
NM_001378454.1(ALMS1):c.1862C>T (p.Ser621Phe)
|
|
|
NM_001378454.1(ALMS1):c.186C>T (p.Pro62=)
|
rs1190980857
|
|
NM_001378454.1(ALMS1):c.1876_1879del (p.Glu626fs)
|
|
|
NM_001378454.1(ALMS1):c.1881G>A (p.Lys627=)
|
|
|
NM_001378454.1(ALMS1):c.1887T>C (p.Gly629=)
|
rs2103772646
|
|
NM_001378454.1(ALMS1):c.188_189delinsC (p.Gln63fs)
|
rs1553396238
|
|
NM_001378454.1(ALMS1):c.1897C>T (p.Gln633Ter)
|
rs398122995
|
|
NM_001378454.1(ALMS1):c.1899A>T (p.Gln633His)
|
|
|
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter)
|
rs780843883
|
|
NM_001378454.1(ALMS1):c.1901A>G (p.Gln634Arg)
|
|
|
NM_001378454.1(ALMS1):c.1902A>G (p.Gln634=)
|
|
|
NM_001378454.1(ALMS1):c.1905G>C (p.Glu635Asp)
|
|
|
NM_001378454.1(ALMS1):c.1906T>C (p.Leu636=)
|
rs2103772724
|
|
NM_001378454.1(ALMS1):c.1909C>A (p.Pro637Thr)
|
|
|
NM_001378454.1(ALMS1):c.1909C>T (p.Pro637Ser)
|
rs2103772730
|
|
NM_001378454.1(ALMS1):c.1910del (p.Pro637fs)
|
rs2103772743
|
|
NM_001378454.1(ALMS1):c.1911A>G (p.Pro637=)
|
|
|
NM_001378454.1(ALMS1):c.1912G>A (p.Glu638Lys)
|
|
|
NM_001378454.1(ALMS1):c.1914G>A (p.Glu638=)
|
|
|
NM_001378454.1(ALMS1):c.1917T>C (p.Ser639=)
|
|
|
NM_001378454.1(ALMS1):c.1926C>G (p.Thr642=)
|
|
|
NM_001378454.1(ALMS1):c.1929A>G (p.Glu643=)
|
|
|
NM_001378454.1(ALMS1):c.1933C>G (p.Pro645Ala)
|
rs146234123
|
|
NM_001378454.1(ALMS1):c.193C>T (p.Leu65=)
|
rs1670518826
|
|
NM_001378454.1(ALMS1):c.1941A>C (p.Glu647Asp)
|
rs768031771
|
|
NM_001378454.1(ALMS1):c.1941A>G (p.Glu647=)
|
|
|
NM_001378454.1(ALMS1):c.1941del (p.Val648fs)
|
rs1671852270
|
|
NM_001378454.1(ALMS1):c.1944T>G (p.Val648=)
|
|
|
NM_001378454.1(ALMS1):c.1946C>G (p.Ser649Ter)
|
|
|
NM_001378454.1(ALMS1):c.1950T>C (p.Ala650=)
|
|
|
NM_001378454.1(ALMS1):c.1953T>C (p.Ala651=)
|
|
|
NM_001378454.1(ALMS1):c.1955C>G (p.Pro652Arg)
|
|
|
NM_001378454.1(ALMS1):c.1956T>C (p.Pro652=)
|
|
|
NM_001378454.1(ALMS1):c.1961C>T (p.Pro654Leu)
|
rs2103772890
|
|
NM_001378454.1(ALMS1):c.1965G>A (p.Val655=)
|
rs1553403345
|
|
NM_001378454.1(ALMS1):c.1966G>A (p.Glu656Lys)
|
|
|
NM_001378454.1(ALMS1):c.1966G>T (p.Glu656Ter)
|
rs773971557
|
|
NM_001378454.1(ALMS1):c.1969C>T (p.Gln657Ter)
|
|
|
NM_001378454.1(ALMS1):c.196G>A (p.Glu66Lys)
|
|
|
NM_001378454.1(ALMS1):c.196G>T (p.Glu66Ter)
|
rs1169223296
|
|
NM_001378454.1(ALMS1):c.1986T>G (p.Pro662=)
|
|
|
NM_001378454.1(ALMS1):c.1989A>G (p.Thr663=)
|
rs1671853387
|
|
NM_001378454.1(ALMS1):c.1990G>T (p.Val664Leu)
|
rs754619355
|
|
NM_001378454.1(ALMS1):c.1992A>G (p.Val664=)
|
rs894774935
|
|
NM_001378454.1(ALMS1):c.1998T>C (p.Ser666=)
|
rs1671853720
|
|
NM_001378454.1(ALMS1):c.1999A>G (p.Thr667Ala)
|
rs28730850
|
|
NM_001378454.1(ALMS1):c.199A>C (p.Ser67Arg)
|
rs1670519049
|
|
NM_001378454.1(ALMS1):c.1A>C (p.Met1Leu)
|
|
|
NM_001378454.1(ALMS1):c.1A>G (p.Met1Val)
|
rs1429891881
|
|
NM_001378454.1(ALMS1):c.1_9del (p.Met1_Pro3del)
|
rs1553396088
|
|
NM_001378454.1(ALMS1):c.2005C>A (p.His669Asn)
|
|
|
NM_001378454.1(ALMS1):c.2008T>A (p.Ser670Thr)
|
|
|
NM_001378454.1(ALMS1):c.2010A>T (p.Ser670=)
|
|
|
NM_001378454.1(ALMS1):c.2012A>G (p.His671Arg)
|
rs1558647685
|
|
NM_001378454.1(ALMS1):c.201T>C (p.Ser67=)
|
|
|
NM_001378454.1(ALMS1):c.2021A>G (p.Asp674Gly)
|
|
|
NM_001378454.1(ALMS1):c.2026C>G (p.Leu676Val)
|
|
|
NM_001378454.1(ALMS1):c.2028C>T (p.Leu676=)
|
|
|
NM_001378454.1(ALMS1):c.2029T>G (p.Phe677Val)
|
|
|
NM_001378454.1(ALMS1):c.2034C>T (p.Phe678=)
|
rs2103773253
|
|
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.203T>C (p.Ile68Thr)
|
rs765378599
|
|
NM_001378454.1(ALMS1):c.2040A>C (p.Arg680=)
|
rs1671855079
|
|
NM_001378454.1(ALMS1):c.2041C>T (p.Gln681Ter)
|
rs190439406
|
|
NM_001378454.1(ALMS1):c.2046C>G (p.Thr682=)
|
rs549883815
|
|
NM_001378454.1(ALMS1):c.2046C>T (p.Thr682=)
|
|
|
NM_001378454.1(ALMS1):c.204_212del (p.Ile68_Glu71delinsMet)
|
rs1553396244
|
|
NM_001378454.1(ALMS1):c.2057G>A (p.Gly686Asp)
|
|
|
NM_001378454.1(ALMS1):c.2058T>G (p.Gly686=)
|
|
|
NM_001378454.1(ALMS1):c.2064A>G (p.Leu688=)
|
rs2103773421
|
|
NM_001378454.1(ALMS1):c.2064_2065dup (p.Thr689fs)
|
rs2103773428
|
|
NM_001378454.1(ALMS1):c.2065A>C (p.Thr689Pro)
|
|
|
NM_001378454.1(ALMS1):c.2067T>C (p.Thr689=)
|
rs2103773444
|
|
NM_001378454.1(ALMS1):c.2070dup (p.Gln691fs)
|
rs1671856137
|
|
NM_001378454.1(ALMS1):c.2071C>A (p.Gln691Lys)
|
rs752875933
|
|
NM_001378454.1(ALMS1):c.2071C>T (p.Gln691Ter)
|
rs752875933
|
|
NM_001378454.1(ALMS1):c.2074G>T (p.Ala692Ser)
|
rs1309166073
|
|
NM_001378454.1(ALMS1):c.2076T>C (p.Ala692=)
|
rs2103773481
|
|
NM_001378454.1(ALMS1):c.2079G>A (p.Leu693=)
|
|
|
NM_001378454.1(ALMS1):c.207C>T (p.Asp69=)
|
rs752874408
|
|
NM_001378454.1(ALMS1):c.2083G>A (p.Val695Ile)
|
|
|
NM_001378454.1(ALMS1):c.208G>A (p.Asp70Asn)
|
rs2104059373
|
|
NM_001378454.1(ALMS1):c.2093_2107del (p.Val698_Ala702del)
|
rs1671856599
|
|
NM_001378454.1(ALMS1):c.2094G>A (p.Val698=)
|
rs200535382
|
|
NM_001378454.1(ALMS1):c.2094G>T (p.Val698=)
|
rs200535382
|
|
NM_001378454.1(ALMS1):c.209ACGAGGAGG[1] (p.70DEE[1])
|
rs772848105
|
|
NM_001378454.1(ALMS1):c.209ACGAGGAGG[3] (p.70DEE[3])
|
rs772848105
|
|
NM_001378454.1(ALMS1):c.20del (p.Pro7fs)
|
rs1340135231
|
|
NM_001378454.1(ALMS1):c.2100A>G (p.Gly700=)
|
rs2103773586
|
|
NM_001378454.1(ALMS1):c.2106T>A (p.Ala702=)
|
rs1558647749
|
|
NM_001378454.1(ALMS1):c.2106T>C (p.Ala702=)
|
|
|
NM_001378454.1(ALMS1):c.210C>T (p.Asp70=)
|
|
|
NM_001378454.1(ALMS1):c.2110C>T (p.Gln704Ter)
|
|
|
NM_001378454.1(ALMS1):c.2116A>G (p.Thr706Ala)
|
rs886056301
|
|
NM_001378454.1(ALMS1):c.2117C>T (p.Thr706Ile)
|
|
|
NM_001378454.1(ALMS1):c.2119G>A (p.Gly707Arg)
|
rs1671857463
|
|
NM_001378454.1(ALMS1):c.211G>C (p.Glu71Gln)
|
rs757131983
|
|
NM_001378454.1(ALMS1):c.211G>T (p.Glu71Ter)
|
rs757131983
|
|
NM_001378454.1(ALMS1):c.2120G>A (p.Gly707Glu)
|
rs1427149217
|
|
NM_001378454.1(ALMS1):c.2121G>T (p.Gly707=)
|
rs878854997
|
|
NM_001378454.1(ALMS1):c.2126C>T (p.Ala709Val)
|
rs2103773702
|
|
NM_001378454.1(ALMS1):c.2129C>G (p.Thr710Arg)
|
|
|
NM_001378454.1(ALMS1):c.2130A>T (p.Thr710=)
|
|
|
NM_001378454.1(ALMS1):c.2130_2134del (p.Val711fs)
|
rs1553403401
|
|
NM_001378454.1(ALMS1):c.2131G>A (p.Val711Ile)
|
rs747790543
|
|
NM_001378454.1(ALMS1):c.2136C>G (p.Leu712=)
|
|
|
NM_001378454.1(ALMS1):c.2137T>C (p.Ser713Pro)
|
rs1248095655
|
|
NM_001378454.1(ALMS1):c.2138C>T (p.Ser713Phe)
|
|
|
NM_001378454.1(ALMS1):c.2138_2139del (p.Ser713fs)
|
rs387906313
|
|
NM_001378454.1(ALMS1):c.213G>A (p.Glu71=)
|
|
|
NM_001378454.1(ALMS1):c.2142T>C (p.Thr714=)
|
|
|
NM_001378454.1(ALMS1):c.2144C>G (p.Pro715Arg)
|
|
|
NM_001378454.1(ALMS1):c.2145C>T (p.Pro715=)
|
rs2103773848
|
|
NM_001378454.1(ALMS1):c.2147A>G (p.His716Arg)
|
|
|
NM_001378454.1(ALMS1):c.2148C>T (p.His716=)
|
|
|
NM_001378454.1(ALMS1):c.214G>T (p.Glu72Ter)
|
|
|
NM_001378454.1(ALMS1):c.2151A>G (p.Ser717=)
|
rs2103773885
|
|
NM_001378454.1(ALMS1):c.2153A>T (p.His718Leu)
|
rs1182404684
|
|
NM_001378454.1(ALMS1):c.2154T>C (p.His718=)
|
|
|
NM_001378454.1(ALMS1):c.2157A>G (p.Arg719=)
|
rs2103773939
|
|
NM_001378454.1(ALMS1):c.2158_2161del (p.Glu720fs)
|
|
|
NM_001378454.1(ALMS1):c.2163G>A (p.Lys721=)
|
rs751753739
|
|
NM_001378454.1(ALMS1):c.2164_2165insT (p.Pro722fs)
|
rs1671859372
|
|
NM_001378454.1(ALMS1):c.2169T>C (p.Gly723=)
|
|
|
NM_001378454.1(ALMS1):c.216G>A (p.Glu72=)
|
|
|
NM_001378454.1(ALMS1):c.2170A>G (p.Ile724Val)
|
rs1671859518
|
|
NM_001378454.1(ALMS1):c.2176del (p.Tyr726fs)
|
|
|
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs)
|
rs771459937
|
|
NM_001378454.1(ALMS1):c.2177A>C (p.Tyr726Ser)
|
|
|
NM_001378454.1(ALMS1):c.2179C>T (p.Gln727Ter)
|
|
|
NM_001378454.1(ALMS1):c.2179CAA[1] (p.Gln728del)
|
rs1553403420
|
|
NM_001378454.1(ALMS1):c.2181A>G (p.Gln727=)
|
|
|
NM_001378454.1(ALMS1):c.2182C>T (p.Gln728Ter)
|
|
|
NM_001378454.1(ALMS1):c.218A>C (p.Asp73Ala)
|
|
|
NM_001378454.1(ALMS1):c.2193A>G (p.Ala731=)
|
|
|
NM_001378454.1(ALMS1):c.2199T>A (p.Ser733Arg)
|
rs1671860790
|
|
NM_001378454.1(ALMS1):c.21A>C (p.Pro7=)
|
rs373614102
|
|
NM_001378454.1(ALMS1):c.21A>G (p.Pro7=)
|
rs373614102
|
|
NM_001378454.1(ALMS1):c.2203C>G (p.Gln735Glu)
|
|
|
NM_001378454.1(ALMS1):c.2203C>T (p.Gln735Ter)
|
rs757152182
|
|
NM_001378454.1(ALMS1):c.2205A>G (p.Gln735=)
|
|
|
NM_001378454.1(ALMS1):c.2207_2299del (p.Thr736_Gln766del)
|
rs1671861000
|
|
NM_001378454.1(ALMS1):c.220_228dup (p.Glu74_Ala76dup)
|
rs762635802
|
|
NM_001378454.1(ALMS1):c.2215A>T (p.Thr739Ser)
|
rs2103774232
|
|
NM_001378454.1(ALMS1):c.2217T>C (p.Thr739=)
|
|
|
NM_001378454.1(ALMS1):c.2217T>G (p.Thr739=)
|
rs2103774244
|
|
NM_001378454.1(ALMS1):c.2218C>G (p.Leu740Val)
|
|
|
NM_001378454.1(ALMS1):c.2218C>T (p.Leu740Phe)
|
|
|
NM_001378454.1(ALMS1):c.2221_2222insTAA (p.Leu740_Thr741insIle)
|
|
|
NM_001378454.1(ALMS1):c.2221dup (p.Thr741fs)
|
rs769291842
|
|
NM_001378454.1(ALMS1):c.2222C>T (p.Thr741Ile)
|
rs758047046
|
|
NM_001378454.1(ALMS1):c.2223T>A (p.Thr741=)
|
|
|
NM_001378454.1(ALMS1):c.2223T>C (p.Thr741=)
|
rs2103774306
|
|
NM_001378454.1(ALMS1):c.2225_2226dup (p.Val743fs)
|
rs2103774323
|
|
NM_001378454.1(ALMS1):c.2226A>G (p.Lys742=)
|
|
|
NM_001378454.1(ALMS1):c.2227G>C (p.Val743Leu)
|
rs1046271130
|
|
NM_001378454.1(ALMS1):c.2230T>G (p.Ser744Ala)
|
rs2103774349
|
|
NM_001378454.1(ALMS1):c.2231C>G (p.Ser744Ter)
|
|
|
NM_001378454.1(ALMS1):c.2237C>T (p.Thr746Ile)
|
|
|
NM_001378454.1(ALMS1):c.2239_3050dup (p.Trp1017delinsCysLeuAspGlnLeuThrArgArgLeuArgTyrGlnGlnTyrSerLeuValLeuThrHisLysGluLysSerLeuValPheCysThrHisArgThrTer)
|
|
|
NM_001378454.1(ALMS1):c.2243G>T (p.Gly748Val)
|
|
|
NM_001378454.1(ALMS1):c.2248G>T (p.Ala750Ser)
|
|
|
NM_001378454.1(ALMS1):c.2249C>T (p.Ala750Val)
|
rs2103774445
|
|
NM_001378454.1(ALMS1):c.2251G>A (p.Asp751Asn)
|
|
|
NM_001378454.1(ALMS1):c.2253C>T (p.Asp751=)
|
|
|
NM_001378454.1(ALMS1):c.2260A>T (p.Thr754Ser)
|
rs781628262
|
|
NM_001378454.1(ALMS1):c.2270del (p.Pro757fs)
|
rs1572932377
|
|
NM_001378454.1(ALMS1):c.2273_2274del (p.Ala758fs)
|
rs1671863469
|
|
NM_001378454.1(ALMS1):c.2277A>G (p.Val759=)
|
|
|
NM_001378454.1(ALMS1):c.2279A>G (p.Gln760Arg)
|
rs1572932391
|
|
NM_001378454.1(ALMS1):c.2281T>G (p.Ser761Ala)
|
|
|
NM_001378454.1(ALMS1):c.2284A>G (p.Ser762Gly)
|
|
|
NM_001378454.1(ALMS1):c.2289T>G (p.Ser763=)
|
rs2103774625
|
|
NM_001378454.1(ALMS1):c.228C>T (p.Ala76=)
|
rs755847221
|
|
NM_001378454.1(ALMS1):c.2291A>G (p.Tyr764Cys)
|
|
|
NM_001378454.1(ALMS1):c.2292C>G (p.Tyr764Ter)
|
|
|
NM_001378454.1(ALMS1):c.2292C>T (p.Tyr764=)
|
rs774724720
|
|
NM_001378454.1(ALMS1):c.2293_2296del (p.Ser765fs)
|
rs1457500348
|
|
NM_001378454.1(ALMS1):c.2293_3150del (p.Ser765_Tyr1050del)
|
rs2103774407
|
|
NM_001378454.1(ALMS1):c.2306A>G (p.Lys769Arg)
|
|
|
NM_001378454.1(ALMS1):c.2312G>A (p.Ser771Asn)
|
rs2103774719
|
|
NM_001378454.1(ALMS1):c.2314_2315del (p.Ile772fs)
|
rs2103774725
|
|
NM_001378454.1(ALMS1):c.231G>A (p.Lys77=)
|
rs2104059606
|
|
NM_001378454.1(ALMS1):c.2325A>G (p.Pro775=)
|
|
|
NM_001378454.1(ALMS1):c.2328G>A (p.Gln776=)
|
|
|
NM_001378454.1(ALMS1):c.2333T>A (p.Leu778Ter)
|
|
|
NM_001378454.1(ALMS1):c.2337A>G (p.Ala779=)
|
rs1355065934
|
|
NM_001378454.1(ALMS1):c.2339A>T (p.Asp780Val)
|
rs756716132
|
|
NM_001378454.1(ALMS1):c.2349A>G (p.Leu783=)
|
rs1246528078
|
|
NM_001378454.1(ALMS1):c.2349A>T (p.Leu783=)
|
rs1246528078
|
|
NM_001378454.1(ALMS1):c.234C>G (p.Ala78=)
|
rs368947491
|
|
NM_001378454.1(ALMS1):c.2350C>A (p.Pro784Thr)
|
|
|
NM_001378454.1(ALMS1):c.2352T>G (p.Pro784=)
|
|
|
NM_001378454.1(ALMS1):c.2358G>T (p.Glu786Asp)
|
rs2103774906
|
|
NM_001378454.1(ALMS1):c.2359G>A (p.Gly787Ser)
|
|
|
NM_001378454.1(ALMS1):c.2364G>T (p.Leu788=)
|
|
|
NM_001378454.1(ALMS1):c.2366A>C (p.Lys789Thr)
|
|
|
NM_001378454.1(ALMS1):c.236G>A (p.Trp79Ter)
|
|
|
NM_001378454.1(ALMS1):c.2370_2371del (p.Ala792fs)
|
rs1271517550
|
|
NM_001378454.1(ALMS1):c.2374G>C (p.Ala792Pro)
|
rs1181372708
|
|
NM_001378454.1(ALMS1):c.237G>A (p.Trp79Ter)
|
|
|
NM_001378454.1(ALMS1):c.2382T>C (p.Ala794=)
|
rs1671866816
|
|
NM_001378454.1(ALMS1):c.2403T>C (p.Thr801=)
|
|
|
NM_001378454.1(ALMS1):c.2410C>G (p.Pro804Ala)
|
rs1391556218
|
|
NM_001378454.1(ALMS1):c.2411C>A (p.Pro804Gln)
|
rs2103775015
|
|
NM_001378454.1(ALMS1):c.2412A>G (p.Pro804=)
|
rs2103775022
|
|
NM_001378454.1(ALMS1):c.2414C>G (p.Thr805Arg)
|
rs1671867434
|
|
NM_001378454.1(ALMS1):c.2415A>T (p.Thr805=)
|
|
|
NM_001378454.1(ALMS1):c.2416G>C (p.Val806Leu)
|
rs138921247
|
|
NM_001378454.1(ALMS1):c.241C>G (p.Gln81Glu)
|
rs778264668
|
|
NM_001378454.1(ALMS1):c.2421C>G (p.Pro807=)
|
|
|
NM_001378454.1(ALMS1):c.2423C>T (p.Ser808Phe)
|
rs1389525541
|
|
NM_001378454.1(ALMS1):c.2430A>G (p.Ala810=)
|
rs2103775086
|
|
NM_001378454.1(ALMS1):c.2431T>C (p.Tyr811His)
|
|
|
NM_001378454.1(ALMS1):c.2433C>T (p.Tyr811=)
|
rs2103775106
|
|
NM_001378454.1(ALMS1):c.2434T>C (p.Ser812Pro)
|
|
|
NM_001378454.1(ALMS1):c.2434_2435dup (p.Arg814fs)
|
|
|
NM_001378454.1(ALMS1):c.2436A>G (p.Ser812=)
|
rs925267503
|
|
NM_001378454.1(ALMS1):c.2443G>A (p.Glu815Lys)
|
rs370978261
|
|
NM_001378454.1(ALMS1):c.2445_2446del (p.Lys816fs)
|
rs765764128
|
|
NM_001378454.1(ALMS1):c.2446A>T (p.Lys816Ter)
|
|
|
NM_001378454.1(ALMS1):c.2467C>T (p.Gln823Ter)
|
rs201853697
|
|
NM_001378454.1(ALMS1):c.2471C>A (p.Ala824Asp)
|
rs754424459
|
|
NM_001378454.1(ALMS1):c.2476C>A (p.Leu826Met)
|
rs2103775303
|
|
NM_001378454.1(ALMS1):c.2478_2479delinsCT (p.Asp827Tyr)
|
|
|
NM_001378454.1(ALMS1):c.2483del (p.Ser828fs)
|
|
|
NM_001378454.1(ALMS1):c.2493C>G (p.Pro831=)
|
|
|
NM_001378454.1(ALMS1):c.2494G>T (p.Glu832Ter)
|
|
|
NM_001378454.1(ALMS1):c.2498A>G (p.Glu833Gly)
|
|
|
NM_001378454.1(ALMS1):c.249C>A (p.His83Gln)
|
|
|
NM_001378454.1(ALMS1):c.2500G>T (p.Ala834Ser)
|
|
|
NM_001378454.1(ALMS1):c.2503C>G (p.Leu835Val)
|
rs2103775468
|
|
NM_001378454.1(ALMS1):c.2513C>A (p.Ser838Ter)
|
rs2103775505
|
|
NM_001378454.1(ALMS1):c.2519_2525del (p.Val840fs)
|
|
|
NM_001378454.1(ALMS1):c.251C>T (p.Pro84Leu)
|
|
|
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.2536G>T (p.Gly846Ter)
|
rs201154998
|
|
NM_001378454.1(ALMS1):c.253G>A (p.Gly85Ser)
|
|
|
NM_001378454.1(ALMS1):c.2544T>G (p.Thr848=)
|
|
|
NM_001378454.1(ALMS1):c.2546G>A (p.Gly849Glu)
|
|
|
NM_001378454.1(ALMS1):c.2548A>G (p.Thr850Ala)
|
rs1304119807
|
|
NM_001378454.1(ALMS1):c.254G>A (p.Gly85Asp)
|
rs1574424065
|
|
NM_001378454.1(ALMS1):c.2553A>C (p.Pro851=)
|
rs2103775668
|
|
NM_001378454.1(ALMS1):c.2554G>A (p.Ala852Thr)
|
|
|
NM_001378454.1(ALMS1):c.2555C>T (p.Ala852Val)
|
|
|
NM_001378454.1(ALMS1):c.255C>G (p.Gly85=)
|
|
|
NM_001378454.1(ALMS1):c.2561C>G (p.Thr854Ser)
|
|
|
NM_001378454.1(ALMS1):c.2562C>G (p.Thr854=)
|
rs1224727067
|
|
NM_001378454.1(ALMS1):c.2566A>G (p.Thr856Ala)
|
|
|
NM_001378454.1(ALMS1):c.256A>G (p.Arg86Gly)
|
|
|
NM_001378454.1(ALMS1):c.2570C>A (p.Ser857Tyr)
|
|
|
NM_001378454.1(ALMS1):c.2575G>C (p.Ala859Pro)
|
rs2103775737
|
|
NM_001378454.1(ALMS1):c.2577G>C (p.Ala859=)
|
rs547563359
|
|
NM_001378454.1(ALMS1):c.2580C>T (p.Ser860=)
|
rs933460222
|
|
NM_001378454.1(ALMS1):c.2586A>G (p.Ser862=)
|
rs761544791
|
|
NM_001378454.1(ALMS1):c.2590G>T (p.Gly864Ter)
|
|
|
NM_001378454.1(ALMS1):c.2592A>G (p.Gly864=)
|
rs1553403535
|
|
NM_001378454.1(ALMS1):c.2596A>G (p.Lys866Glu)
|
rs2103775820
|
|
NM_001378454.1(ALMS1):c.2604T>C (p.Ser868=)
|
rs2103775854
|
|
NM_001378454.1(ALMS1):c.2615A>G (p.Gln872Arg)
|
rs2103775891
|
|
NM_001378454.1(ALMS1):c.2616G>A (p.Gln872=)
|
|
|
NM_001378454.1(ALMS1):c.2617C>T (p.Gln873Ter)
|
rs1572932845
|
|
NM_001378454.1(ALMS1):c.2622C>T (p.Thr874=)
|
|
|
NM_001378454.1(ALMS1):c.2637T>C (p.His879=)
|
rs1671873372
|
|
NM_001378454.1(ALMS1):c.263T>C (p.Leu88Ser)
|
rs2104059929
|
|
NM_001378454.1(ALMS1):c.2645A>G (p.Glu882Gly)
|
|
|
NM_001378454.1(ALMS1):c.2646A>G (p.Glu882=)
|
|
|
NM_001378454.1(ALMS1):c.2651C>T (p.Ala884Val)
|
|
|
NM_001378454.1(ALMS1):c.2652dup (p.Leu885fs)
|
|
|
NM_001378454.1(ALMS1):c.2658dup (p.Val887fs)
|
|
|
NM_001378454.1(ALMS1):c.265C>T (p.Pro89Ser)
|
rs956834448
|
|
NM_001378454.1(ALMS1):c.2663C>G (p.Ser888Ter)
|
|
|
NM_001378454.1(ALMS1):c.2664A>C (p.Ser888=)
|
|
|
NM_001378454.1(ALMS1):c.2665A>T (p.Ile889Phe)
|
|
|
NM_001378454.1(ALMS1):c.2673T>C (p.Pro891=)
|
rs2103776078
|
|
NM_001378454.1(ALMS1):c.2676A>C (p.Gly892=)
|
rs745887923
|
|
NM_001378454.1(ALMS1):c.2678C>T (p.Pro893Leu)
|
rs1671874349
|
|
NM_001378454.1(ALMS1):c.2679A>G (p.Pro893=)
|
rs17848881
|
|
NM_001378454.1(ALMS1):c.2680G>T (p.Gly894Cys)
|
rs374262388
|
|
NM_001378454.1(ALMS1):c.2683_2685del (p.Asp895del)
|
rs763288832
|
|
NM_001378454.1(ALMS1):c.2684A>G (p.Asp895Gly)
|
|
|
NM_001378454.1(ALMS1):c.2686C>T (p.Gln896Ter)
|
|
|
NM_001378454.1(ALMS1):c.2687A>T (p.Gln896Leu)
|
rs1671874811
|
|
NM_001378454.1(ALMS1):c.2687del (p.Gln896fs)
|
rs2103776149
|
|
NM_001378454.1(ALMS1):c.2688G>A (p.Gln896=)
|
rs2103776152
|
|
NM_001378454.1(ALMS1):c.2689A>T (p.Lys897Ter)
|
|
|
NM_001378454.1(ALMS1):c.268C>T (p.Pro90Ser)
|
|
|
NM_001378454.1(ALMS1):c.2695G>A (p.Gly899Arg)
|
rs1671874954
|
|
NM_001378454.1(ALMS1):c.2697G>T (p.Gly899=)
|
rs2103776182
|
|
NM_001378454.1(ALMS1):c.269C>T (p.Pro90Leu)
|
|
|
NM_001378454.1(ALMS1):c.2700A>G (p.Ile900Met)
|
|
|
NM_001378454.1(ALMS1):c.2702C>T (p.Pro901Leu)
|
rs2103776209
|
|
NM_001378454.1(ALMS1):c.2705C>G (p.Ser902Ter)
|
|
|
NM_001378454.1(ALMS1):c.2718T>C (p.Ser906=)
|
rs2103776260
|
|
NM_001378454.1(ALMS1):c.2721C>A (p.Phe907Leu)
|
rs2103776271
|
|
NM_001378454.1(ALMS1):c.2721C>T (p.Phe907=)
|
rs2103776271
|
|
NM_001378454.1(ALMS1):c.2724C>T (p.Tyr908=)
|
rs573325092
|
|
NM_001378454.1(ALMS1):c.2726C>T (p.Ser909Leu)
|
rs746640196
|
|
NM_001378454.1(ALMS1):c.2728_2731del (p.His910fs)
|
rs1558648189
|
|
NM_001378454.1(ALMS1):c.272T>A (p.Leu91Gln)
|
|
|
NM_001378454.1(ALMS1):c.2734_2737del (p.Glu912fs)
|
rs1671876151
|
|
NM_001378454.1(ALMS1):c.2736G>A (p.Glu912=)
|
rs2103776351
|
|
NM_001378454.1(ALMS1):c.2737A>G (p.Lys913Glu)
|
rs2103776357
|
|
NM_001378454.1(ALMS1):c.2739G>A (p.Lys913=)
|
rs373378385
|
|
NM_001378454.1(ALMS1):c.273G>C (p.Leu91=)
|
|
|
NM_001378454.1(ALMS1):c.2743dup (p.Ile915fs)
|
|
|
NM_001378454.1(ALMS1):c.2745T>G (p.Ile915Met)
|
rs2103776397
|
|
NM_001378454.1(ALMS1):c.2746A>G (p.Ile916Val)
|
rs1355707191
|
|
NM_001378454.1(ALMS1):c.2751T>A (p.Phe917Leu)
|
|
|
NM_001378454.1(ALMS1):c.2751T>C (p.Phe917=)
|
rs2103776411
|
|
NM_001378454.1(ALMS1):c.2752del (p.Ser918fs)
|
|
|
NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs)
|
rs1230351650
|
|
NM_001378454.1(ALMS1):c.2754C>T (p.Ser918=)
|
|
|
NM_001378454.1(ALMS1):c.2755C>T (p.Gln919Ter)
|
rs1322100078
|
|
NM_001378454.1(ALMS1):c.2761A>G (p.Thr921Ala)
|
|
|
NM_001378454.1(ALMS1):c.2768C>G (p.Pro923Arg)
|
|
|
NM_001378454.1(ALMS1):c.2770G>C (p.Asp924His)
|
|
|
NM_001378454.1(ALMS1):c.2772C>T (p.Asp924=)
|
|
|
NM_001378454.1(ALMS1):c.277C>T (p.Pro93Ser)
|
|
|
NM_001378454.1(ALMS1):c.2780T>A (p.Phe927Tyr)
|
|
|
NM_001378454.1(ALMS1):c.2785G>T (p.Glu929Ter)
|
rs1572933082
|
|
NM_001378454.1(ALMS1):c.2790dup (p.Ala931fs)
|
rs1553403560
|
|
NM_001378454.1(ALMS1):c.2797A>T (p.Lys933Ter)
|
|
|
NM_001378454.1(ALMS1):c.279C>A (p.Pro93=)
|
|
|
NM_001378454.1(ALMS1):c.279C>G (p.Pro93=)
|
rs770203539
|
|
NM_001378454.1(ALMS1):c.27G>A (p.Pro9=)
|
|
|
NM_001378454.1(ALMS1):c.2800G>T (p.Val934Phe)
|
|
|
NM_001378454.1(ALMS1):c.2809G>C (p.Val937Leu)
|
rs756153603
|
|
NM_001378454.1(ALMS1):c.280C>G (p.Pro94Ala)
|
rs775431837
|
|
NM_001378454.1(ALMS1):c.281C>G (p.Pro94Arg)
|
|
|
NM_001378454.1(ALMS1):c.281C>T (p.Pro94Leu)
|
|
|
NM_001378454.1(ALMS1):c.281del (p.Pro94fs)
|
rs2104060044
|
|
NM_001378454.1(ALMS1):c.281dup (p.Gln95fs)
|
rs2104060044
|
|
NM_001378454.1(ALMS1):c.2820G>A (p.Leu940=)
|
|
|
NM_001378454.1(ALMS1):c.2827C>T (p.Gln943Ter)
|
|
|
NM_001378454.1(ALMS1):c.282G>A (p.Pro94=)
|
rs764095354
|
|
NM_001378454.1(ALMS1):c.283C>A (p.Gln95Lys)
|
|
|
NM_001378454.1(ALMS1):c.2844A>G (p.Pro948=)
|
rs2103776713
|
|
NM_001378454.1(ALMS1):c.2847A>G (p.Thr949=)
|
rs773581447
|
|
NM_001378454.1(ALMS1):c.2848G>A (p.Val950Met)
|
rs370733145
|
|
NM_001378454.1(ALMS1):c.2848G>T (p.Val950Leu)
|
rs370733145
|
|
NM_001378454.1(ALMS1):c.2849T>C (p.Val950Ala)
|
rs374139959
|
|
NM_001378454.1(ALMS1):c.284A>G (p.Gln95Arg)
|
|
|
NM_001378454.1(ALMS1):c.284dup (p.His96fs)
|
rs1553396293
|
|
NM_001378454.1(ALMS1):c.2850G>T (p.Val950=)
|
rs551541932
|
|
NM_001378454.1(ALMS1):c.2853C>T (p.Ser951=)
|
|
|
NM_001378454.1(ALMS1):c.2863C>T (p.His955Tyr)
|
|
|
NM_001378454.1(ALMS1):c.2866T>C (p.Ser956Pro)
|
|
|
NM_001378454.1(ALMS1):c.2867C>T (p.Ser956Leu)
|
|
|
NM_001378454.1(ALMS1):c.2871T>C (p.His957=)
|
|
|
NM_001378454.1(ALMS1):c.2873G>A (p.Ser958Asn)
|
|
|
NM_001378454.1(ALMS1):c.2875G>A (p.Glu959Lys)
|
|
|
NM_001378454.1(ALMS1):c.2880A>G (p.Lys960=)
|
rs1238528749
|
|
NM_001378454.1(ALMS1):c.2882C>G (p.Ser961Cys)
|
rs2103776868
|
|
NM_001378454.1(ALMS1):c.2882del (p.Ser961fs)
|
rs2103776873
|
|
NM_001378454.1(ALMS1):c.2884A>G (p.Ser962Gly)
|
|
|
NM_001378454.1(ALMS1):c.288C>T (p.His96=)
|
|
|
NM_001378454.1(ALMS1):c.2890T>G (p.Phe964Val)
|
rs2103776905
|
|
NM_001378454.1(ALMS1):c.2894A>G (p.Tyr965Cys)
|
rs1671879952
|
|
NM_001378454.1(ALMS1):c.2896C>G (p.Gln966Glu)
|
rs761177629
|
|
NM_001378454.1(ALMS1):c.2896C>T (p.Gln966Ter)
|
rs761177629
|
|
NM_001378454.1(ALMS1):c.2897del (p.Gln966fs)
|
rs1671880064
|
|
NM_001378454.1(ALMS1):c.2898G>A (p.Gln966=)
|
rs2103776938
|
|
NM_001378454.1(ALMS1):c.2898G>T (p.Gln966His)
|
rs2103776938
|
|
NM_001378454.1(ALMS1):c.2907G>T (p.Leu969Phe)
|
|
|
NM_001378454.1(ALMS1):c.2912_2915del (p.Asp971fs)
|
rs1671880172
|
|
NM_001378454.1(ALMS1):c.2914A>T (p.Ser972Cys)
|
|
|
NM_001378454.1(ALMS1):c.2922A>G (p.Leu974=)
|
rs199769789
|
|
NM_001378454.1(ALMS1):c.2925T>C (p.Pro975=)
|
rs751486678
|
|
NM_001378454.1(ALMS1):c.2930A>T (p.Glu977Val)
|
|
|
NM_001378454.1(ALMS1):c.2934T>C (p.Ser978=)
|
|
|
NM_001378454.1(ALMS1):c.2935C>T (p.Leu979=)
|
rs2103777030
|
|
NM_001378454.1(ALMS1):c.2935_2936del (p.Leu979fs)
|
rs2103777026
|
|
NM_001378454.1(ALMS1):c.2941dup (p.Met981fs)
|
|
|
NM_001378454.1(ALMS1):c.2943G>C (p.Met981Ile)
|
rs757088179
|
|
NM_001378454.1(ALMS1):c.2949T>C (p.Ala983=)
|
rs1229095266
|
|
NM_001378454.1(ALMS1):c.2950A>G (p.Ile984Val)
|
|
|
NM_001378454.1(ALMS1):c.2952T>C (p.Ile984=)
|
|
|
NM_001378454.1(ALMS1):c.2954C>T (p.Pro985Leu)
|
|
|
NM_001378454.1(ALMS1):c.2955T>C (p.Pro985=)
|
rs2103777079
|
|
NM_001378454.1(ALMS1):c.2955_2956insTGAC (p.Gly986Ter)
|
rs1553403585
|
|
NM_001378454.1(ALMS1):c.2958A>T (p.Gly986=)
|
|
|
NM_001378454.1(ALMS1):c.2963del (p.Thr988fs)
|
|
|
NM_001378454.1(ALMS1):c.2966A>G (p.Asp989Gly)
|
|
|
NM_001378454.1(ALMS1):c.2969A>G (p.Gln990Arg)
|
|
|
NM_001378454.1(ALMS1):c.296C>A (p.Ser99Ter)
|
rs1553396296
|
|
NM_001378454.1(ALMS1):c.2973G>A (p.Lys991=)
|
rs1444578140
|
|
NM_001378454.1(ALMS1):c.2974A>C (p.Thr992Pro)
|
rs2103777146
|
|
NM_001378454.1(ALMS1):c.2976T>C (p.Thr992=)
|
|
|
NM_001378454.1(ALMS1):c.2979C>T (p.Val993=)
|
rs1242113819
|
|
NM_001378454.1(ALMS1):c.2981C>G (p.Pro994Arg)
|
|
|
NM_001378454.1(ALMS1):c.2983A>G (p.Thr995Ala)
|
rs776162820
|
|
NM_001378454.1(ALMS1):c.2985A>C (p.Thr995=)
|
rs2103777181
|
|
NM_001378454.1(ALMS1):c.2989A>G (p.Thr997Ala)
|
|
|
NM_001378454.1(ALMS1):c.298G>T (p.Glu100Ter)
|
rs1254495717
|
|
NM_001378454.1(ALMS1):c.2994_2997del (p.Pro999fs)
|
rs766323360
|
|
NM_001378454.1(ALMS1):c.2T>G (p.Met1Arg)
|
rs1553396091
|
|
NM_001378454.1(ALMS1):c.3002G>A (p.Gly1001Asp)
|
rs773630367
|
|
NM_001378454.1(ALMS1):c.3011C>G (p.Ser1004Ter)
|
rs1359874667
|
|
NM_001378454.1(ALMS1):c.3012del (p.His1005fs)
|
rs2103777336
|
|
NM_001378454.1(ALMS1):c.3013C>T (p.His1005Tyr)
|
rs1039388814
|
|
NM_001378454.1(ALMS1):c.3019_3022del (p.Glu1007fs)
|
|
|
NM_001378454.1(ALMS1):c.301G>A (p.Gly101Ser)
|
|
|
NM_001378454.1(ALMS1):c.3027C>T (p.Pro1009=)
|
|
|
NM_001378454.1(ALMS1):c.302G>A (p.Gly101Asp)
|
|
|
NM_001378454.1(ALMS1):c.3039_3042del (p.Gln1014fs)
|
rs1671883188
|
|
NM_001378454.1(ALMS1):c.303C>T (p.Gly101=)
|
|
|
NM_001378454.1(ALMS1):c.3041_3042delinsT (p.Gln1014fs)
|
rs1553403598
|
|
NM_001378454.1(ALMS1):c.3042A>G (p.Gln1014=)
|
|
|
NM_001378454.1(ALMS1):c.3045G>A (p.Gln1015=)
|
rs2103777429
|
|
NM_001378454.1(ALMS1):c.3049T>A (p.Trp1017Arg)
|
|
|
NM_001378454.1(ALMS1):c.3050G>A (p.Trp1017Ter)
|
|
|
NM_001378454.1(ALMS1):c.3051G>A (p.Trp1017Ter)
|
rs1671883598
|
|
NM_001378454.1(ALMS1):c.3057T>C (p.Asp1019=)
|
rs1671883693
|
|
NM_001378454.1(ALMS1):c.3059_3062del (p.Ser1020fs)
|
rs2103777482
|
|
NM_001378454.1(ALMS1):c.3063T>C (p.Tyr1021=)
|
|
|
NM_001378454.1(ALMS1):c.3067A>G (p.Thr1023Ala)
|
rs1553403605
|
|
NM_001378454.1(ALMS1):c.306G>T (p.Glu102Asp)
|
rs2104060344
|
|
NM_001378454.1(ALMS1):c.3072A>C (p.Glu1024Asp)
|
rs1671884089
|
|
NM_001378454.1(ALMS1):c.3079C>T (p.Leu1027=)
|
|
|
NM_001378454.1(ALMS1):c.3091A>C (p.Thr1031Pro)
|
rs72811915
|
|
NM_001378454.1(ALMS1):c.3091_3231del (p.Thr1031_Ser1077del)
|
|
|
NM_001378454.1(ALMS1):c.3096C>T (p.Gly1032=)
|
|
|
NM_001378454.1(ALMS1):c.30C>A (p.Gly10=)
|
|
|
NM_001378454.1(ALMS1):c.30C>T (p.Gly10=)
|
rs1402244580
|
|
NM_001378454.1(ALMS1):c.3102A>T (p.Gly1034=)
|
rs2103777616
|
|
NM_001378454.1(ALMS1):c.3108T>A (p.Ala1036=)
|
rs2103777636
|
|
NM_001378454.1(ALMS1):c.3111C>T (p.Asp1037=)
|
rs1671884843
|
|
NM_001378454.1(ALMS1):c.3112C>T (p.Gln1038Ter)
|
rs2103777652
|
|
NM_001378454.1(ALMS1):c.3117G>T (p.Lys1039Asn)
|
rs748646844
|
|
NM_001378454.1(ALMS1):c.3121_3125del (p.Glu1041fs)
|
rs1671885188
|
|
NM_001378454.1(ALMS1):c.3127C>A (p.Pro1043Thr)
|
rs376987487
|
|
NM_001378454.1(ALMS1):c.3127C>T (p.Pro1043Ser)
|
rs376987487
|
|
NM_001378454.1(ALMS1):c.3129A>G (p.Pro1043=)
|
|
|
NM_001378454.1(ALMS1):c.312C>T (p.Thr104=)
|
|
|
NM_001378454.1(ALMS1):c.3136C>T (p.Gln1046Ter)
|
rs1671885850
|
|
NM_001378454.1(ALMS1):c.3138G>A (p.Gln1046=)
|
rs2103777774
|
|
NM_001378454.1(ALMS1):c.3141T>C (p.Ser1047=)
|
rs2103777780
|
|
NM_001378454.1(ALMS1):c.3142A>G (p.Ser1048Gly)
|
rs2103777784
|
|
NM_001378454.1(ALMS1):c.3143G>T (p.Ser1048Ile)
|
|
|
NM_001378454.1(ALMS1):c.3145T>A (p.Ser1049Thr)
|
|
|
NM_001378454.1(ALMS1):c.314C>A (p.Ser105Tyr)
|
rs1328427718
|
|
NM_001378454.1(ALMS1):c.3150C>A (p.Tyr1050Ter)
|
rs1671886193
|
|
NM_001378454.1(ALMS1):c.3150C>T (p.Tyr1050=)
|
|
|
NM_001378454.1(ALMS1):c.3162G>A (p.Glu1054=)
|
|
|
NM_001378454.1(ALMS1):c.3166C>T (p.Pro1056Ser)
|
|
|
NM_001378454.1(ALMS1):c.3168T>A (p.Pro1056=)
|
rs1180428746
|
|
NM_001378454.1(ALMS1):c.3169A>G (p.Ser1057Gly)
|
rs750417761
|
|
NM_001378454.1(ALMS1):c.3169A>T (p.Ser1057Cys)
|
|
|
NM_001378454.1(ALMS1):c.3175T>C (p.Leu1059=)
|
|
|
NM_001378454.1(ALMS1):c.3176T>A (p.Leu1059Ter)
|
|
|
NM_001378454.1(ALMS1):c.3177G>A (p.Leu1059=)
|
rs766133181
|
|
NM_001378454.1(ALMS1):c.3181C>T (p.Pro1061Ser)
|
rs754651123
|
|
NM_001378454.1(ALMS1):c.319G>C (p.Glu107Gln)
|
|
|
NM_001378454.1(ALMS1):c.31G>T (p.Glu11Ter)
|
|
|
NM_001378454.1(ALMS1):c.3202C>A (p.His1068Asn)
|
|
|
NM_001378454.1(ALMS1):c.3207A>G (p.Leu1069=)
|
|
|
NM_001378454.1(ALMS1):c.3207A>T (p.Leu1069=)
|
rs2103778010
|
|
NM_001378454.1(ALMS1):c.3210T>C (p.Pro1070=)
|
rs2103778016
|
|
NM_001378454.1(ALMS1):c.3230C>G (p.Ser1077Ter)
|
|
|
NM_001378454.1(ALMS1):c.3232G>C (p.Ala1078Pro)
|
rs1249823614
|
|
NM_001378454.1(ALMS1):c.3233C>T (p.Ala1078Val)
|
|
|
NM_001378454.1(ALMS1):c.3234C>A (p.Ala1078=)
|
rs771305195
|
|
NM_001378454.1(ALMS1):c.3236T>G (p.Phe1079Cys)
|
|
|
NM_001378454.1(ALMS1):c.3237C>T (p.Phe1079=)
|
|
|
NM_001378454.1(ALMS1):c.3238C>T (p.Pro1080Ser)
|
|
|
NM_001378454.1(ALMS1):c.3239C>T (p.Pro1080Leu)
|
rs1671888366
|
|
NM_001378454.1(ALMS1):c.324+11C>A
|
|
|
NM_001378454.1(ALMS1):c.324+11_324+33dup
|
|
|
NM_001378454.1(ALMS1):c.324+12C>G
|
|
|
NM_001378454.1(ALMS1):c.324+12C>T
|
rs1553396311
|
|
NM_001378454.1(ALMS1):c.324+14G>A
|
rs1553396313
|
|
NM_001378454.1(ALMS1):c.324+16G>A
|
|
|
NM_001378454.1(ALMS1):c.324+16G>C
|
rs1276086207
|
|
NM_001378454.1(ALMS1):c.324+16G>T
|
rs1276086207
|
|
NM_001378454.1(ALMS1):c.324+18G>A
|
rs1553396316
|
|
NM_001378454.1(ALMS1):c.324+20G>A
|
|
|
NM_001378454.1(ALMS1):c.324+4A>G
|
rs1553396304
|
|
NM_001378454.1(ALMS1):c.324+5G>T
|
|
|
NM_001378454.1(ALMS1):c.324+7C>G
|
rs1230102179
|
|
NM_001378454.1(ALMS1):c.324+7C>T
|
|
|
NM_001378454.1(ALMS1):c.324+8G>C
|
|
|
NM_001378454.1(ALMS1):c.3240T>C (p.Pro1080=)
|
rs1459135087
|
|
NM_001378454.1(ALMS1):c.3248_3255del (p.Ala1083fs)
|
|
|
NM_001378454.1(ALMS1):c.324G>C (p.Lys108Asn)
|
|
|
NM_001378454.1(ALMS1):c.325-14C>G
|
|
|
NM_001378454.1(ALMS1):c.325-15_325-13del
|
rs1553398832
|
|
NM_001378454.1(ALMS1):c.325-17C>T
|
|
|
NM_001378454.1(ALMS1):c.325-18C>T
|
|
|
NM_001378454.1(ALMS1):c.325-1G>A
|
rs764337753
|
|
NM_001378454.1(ALMS1):c.325-4dup
|
|
|
NM_001378454.1(ALMS1):c.325-8A>C
|
rs200740825
|
|
NM_001378454.1(ALMS1):c.3253C>T (p.Gln1085Ter)
|
|
|
NM_001378454.1(ALMS1):c.3254A>T (p.Gln1085Leu)
|
|
|
NM_001378454.1(ALMS1):c.3255G>T (p.Gln1085His)
|
rs181507134
|
|
NM_001378454.1(ALMS1):c.325A>G (p.Ile109Val)
|
|
|
NM_001378454.1(ALMS1):c.3260C>T (p.Thr1087Ile)
|
|
|
NM_001378454.1(ALMS1):c.3265A>G (p.Thr1089Ala)
|
|
|
NM_001378454.1(ALMS1):c.3266C>A (p.Thr1089Lys)
|
rs556855697
|
|
NM_001378454.1(ALMS1):c.3266C>T (p.Thr1089Ile)
|
rs556855697
|
|
NM_001378454.1(ALMS1):c.3268C>T (p.Pro1090Ser)
|
|
|
NM_001378454.1(ALMS1):c.3270A>G (p.Pro1090=)
|
rs2103778240
|
|
NM_001378454.1(ALMS1):c.3278C>A (p.Pro1093Gln)
|
|
|
NM_001378454.1(ALMS1):c.3281C>T (p.Ser1094Phe)
|
|
|
NM_001378454.1(ALMS1):c.3282T>C (p.Ser1094=)
|
|
|
NM_001378454.1(ALMS1):c.3284C>G (p.Thr1095Ser)
|
|
|
NM_001378454.1(ALMS1):c.328G>A (p.Val110Ile)
|
rs2103675391
|
|
NM_001378454.1(ALMS1):c.3292T>C (p.Ser1098Pro)
|
rs1553403651
|
|
NM_001378454.1(ALMS1):c.3297A>G (p.Gln1099=)
|
|
|
NM_001378454.1(ALMS1):c.3297_3298del (p.Lys1102fs)
|
rs1553403653
|
|
NM_001378454.1(ALMS1):c.3298del (p.Arg1100fs)
|
rs1553403653
|
|
NM_001378454.1(ALMS1):c.32dup (p.Leu12fs)
|
rs1553396098
|
|
NM_001378454.1(ALMS1):c.3300A>C (p.Arg1100Ser)
|
|
|
NM_001378454.1(ALMS1):c.3312T>A (p.Gly1104=)
|
rs2103778429
|
|
NM_001378454.1(ALMS1):c.3312T>C (p.Gly1104=)
|
|
|
NM_001378454.1(ALMS1):c.3318C>T (p.Phe1106=)
|
rs1044966122
|
|
NM_001378454.1(ALMS1):c.3320A>G (p.Tyr1107Cys)
|
|
|
NM_001378454.1(ALMS1):c.3325C>T (p.Gln1109Ter)
|
rs1671890891
|
|
NM_001378454.1(ALMS1):c.3330C>T (p.Thr1110=)
|
rs749570443
|
|
NM_001378454.1(ALMS1):c.3331T>A (p.Leu1111Met)
|
|
|
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs)
|
rs1553403656
|
|
NM_001378454.1(ALMS1):c.3340_3341del (p.His1115fs)
|
|
|
NM_001378454.1(ALMS1):c.3346C>T (p.Leu1116=)
|
|
|
NM_001378454.1(ALMS1):c.3350C>G (p.Pro1117Arg)
|
|
|
NM_001378454.1(ALMS1):c.3360T>C (p.Ala1120=)
|
|
|
NM_001378454.1(ALMS1):c.3361C>T (p.Leu1121=)
|
|
|
NM_001378454.1(ALMS1):c.3362T>C (p.Leu1121Pro)
|
|
|
NM_001378454.1(ALMS1):c.3366A>C (p.Lys1122Asn)
|
rs1254282900
|
|
NM_001378454.1(ALMS1):c.336G>A (p.Leu112=)
|
rs2103675446
|
|
NM_001378454.1(ALMS1):c.3372A>G (p.Ser1124=)
|
rs2103778635
|
|
NM_001378454.1(ALMS1):c.3375_3376del (p.Ala1126fs)
|
rs2103778657
|
|
NM_001378454.1(ALMS1):c.3386T>A (p.Leu1129Gln)
|
rs2103778692
|
|
NM_001378454.1(ALMS1):c.3389C>G (p.Ala1130Gly)
|
|
|
NM_001378454.1(ALMS1):c.338C>T (p.Thr113Ile)
|
rs1417754706
|
|
NM_001378454.1(ALMS1):c.3390A>G (p.Ala1130=)
|
|
|
NM_001378454.1(ALMS1):c.3399G>T (p.Lys1133Asn)
|
|
|
NM_001378454.1(ALMS1):c.339C>T (p.Thr113=)
|
rs2103675459
|
|
NM_001378454.1(ALMS1):c.33G>A (p.Glu11=)
|
rs1217067369
|
|
NM_001378454.1(ALMS1):c.3401C>G (p.Thr1134Ser)
|
|
|
NM_001378454.1(ALMS1):c.3405C>G (p.Gly1135=)
|
rs1671892631
|
|
NM_001378454.1(ALMS1):c.3406A>G (p.Thr1136Ala)
|
rs886056302
|
|
NM_001378454.1(ALMS1):c.3407C>G (p.Thr1136Arg)
|
|
|
NM_001378454.1(ALMS1):c.3409C>T (p.Pro1137Ser)
|
rs2103778839
|
|
NM_001378454.1(ALMS1):c.3414T>C (p.Thr1138=)
|
rs2103778870
|
|
NM_001378454.1(ALMS1):c.3416T>C (p.Val1139Ala)
|
|
|
NM_001378454.1(ALMS1):c.3422C>G (p.Ser1141Ter)
|
rs780622565
|
|
NM_001378454.1(ALMS1):c.3428C>T (p.Ser1143Phe)
|
|
|
NM_001378454.1(ALMS1):c.3429C>T (p.Ser1143=)
|
|
|
NM_001378454.1(ALMS1):c.342T>C (p.Cys114=)
|
|
|
NM_001378454.1(ALMS1):c.3436C>A (p.Gln1146Lys)
|
rs2103778961
|
|
NM_001378454.1(ALMS1):c.3436C>T (p.Gln1146Ter)
|
rs2103778961
|
|
NM_001378454.1(ALMS1):c.3440A>T (p.His1147Leu)
|
|
|
NM_001378454.1(ALMS1):c.3441T>C (p.His1147=)
|
|
|
NM_001378454.1(ALMS1):c.3444A>G (p.Arg1148=)
|
|
|
NM_001378454.1(ALMS1):c.3453C>A (p.Pro1151=)
|
|
|
NM_001378454.1(ALMS1):c.3456C>T (p.Ser1152=)
|
rs2103779021
|
|
NM_001378454.1(ALMS1):c.345T>C (p.His115=)
|
rs1572904510
|
|
NM_001378454.1(ALMS1):c.3463C>T (p.His1155Tyr)
|
rs2103779035
|
|
NM_001378454.1(ALMS1):c.3466C>T (p.Gln1156Ter)
|
|
|
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile)
|
rs752342634
|
|
NM_001378454.1(ALMS1):c.3472G>C (p.Ala1158Pro)
|
rs376302473
|
|
NM_001378454.1(ALMS1):c.3474C>T (p.Ala1158=)
|
|
|
NM_001378454.1(ALMS1):c.3478C>T (p.Pro1160Ser)
|
rs1164554577
|
|
NM_001378454.1(ALMS1):c.3488A>T (p.His1163Leu)
|
|
|
NM_001378454.1(ALMS1):c.3489_3498del (p.His1163fs)
|
rs1553403685
|
|
NM_001378454.1(ALMS1):c.348A>G (p.Val116=)
|
rs1433156767
|
|
NM_001378454.1(ALMS1):c.3490A>G (p.Ile1164Val)
|
|
|
NM_001378454.1(ALMS1):c.3498A>G (p.Glu1166=)
|
|
|
NM_001378454.1(ALMS1):c.3501G>A (p.Glu1167=)
|
rs1671897364
|
|
NM_001378454.1(ALMS1):c.3503C>T (p.Ala1168Val)
|
rs2103779179
|
|
NM_001378454.1(ALMS1):c.3507G>A (p.Gln1169=)
|
rs1671897487
|
|
NM_001378454.1(ALMS1):c.350G>A (p.Trp117Ter)
|
rs1671017057
|
|
NM_001378454.1(ALMS1):c.3510A>C (p.Lys1170Asn)
|
rs1671897603
|
|
NM_001378454.1(ALMS1):c.3510A>G (p.Lys1170=)
|
|
|
NM_001378454.1(ALMS1):c.3516A>G (p.Ser1172=)
|
rs2103779222
|
|
NM_001378454.1(ALMS1):c.3522dup (p.Thr1175fs)
|
rs1671897788
|
|
NM_001378454.1(ALMS1):c.3523A>G (p.Thr1175Ala)
|
rs1321889913
|
|
NM_001378454.1(ALMS1):c.3523dup (p.Thr1175fs)
|
rs2103779248
|
|
NM_001378454.1(ALMS1):c.3525T>C (p.Thr1175=)
|
rs2103779262
|
|
NM_001378454.1(ALMS1):c.3528A>G (p.Gly1176=)
|
rs754195469
|
|
NM_001378454.1(ALMS1):c.3531A>G (p.Pro1177=)
|
rs2103779290
|
|
NM_001378454.1(ALMS1):c.3534T>A (p.Gly1178=)
|
|
|
NM_001378454.1(ALMS1):c.3547T>C (p.Trp1183Arg)
|
rs2103779356
|
|
NM_001378454.1(ALMS1):c.354A>G (p.Gln118=)
|
rs531782624
|
|
NM_001378454.1(ALMS1):c.3550A>T (p.Ile1184Leu)
|
|
|
NM_001378454.1(ALMS1):c.3552A>G (p.Ile1184Met)
|
rs2103779378
|
|
NM_001378454.1(ALMS1):c.3555A>C (p.Pro1185=)
|
rs2103779398
|
|
NM_001378454.1(ALMS1):c.3557_3564del (p.Arg1186fs)
|
rs2103779399
|
|
NM_001378454.1(ALMS1):c.3563T>G (p.Leu1188Arg)
|
|
|
NM_001378454.1(ALMS1):c.3566C>T (p.Ser1189Phe)
|
|
|
NM_001378454.1(ALMS1):c.3567_3586del (p.Thr1190fs)
|
|
|
NM_001378454.1(ALMS1):c.3570C>T (p.Thr1190=)
|
|
|
NM_001378454.1(ALMS1):c.3572del (p.Phe1191fs)
|
rs1558648759
|
|
NM_001378454.1(ALMS1):c.3573C>T (p.Phe1191=)
|
|
|
NM_001378454.1(ALMS1):c.3574T>C (p.Tyr1192His)
|
rs1553403697
|
|
NM_001378454.1(ALMS1):c.3574T>G (p.Tyr1192Asp)
|
rs1553403697
|
|
NM_001378454.1(ALMS1):c.3575A>G (p.Tyr1192Cys)
|
|
|
NM_001378454.1(ALMS1):c.357G>A (p.Gln119=)
|
rs2103675566
|
|
NM_001378454.1(ALMS1):c.358_361del (p.Ile120fs)
|
|
|
NM_001378454.1(ALMS1):c.3596G>A (p.Gly1199Asp)
|
rs1572934110
|
|
NM_001378454.1(ALMS1):c.3596G>C (p.Gly1199Ala)
|
|
|
NM_001378454.1(ALMS1):c.359_360del (p.Ile120fs)
|
rs1553398842
|
|
NM_001378454.1(ALMS1):c.35_36insCGAGGAGGAGGAGGA (p.Glu28_Ala29insGluGluGluGluGlu)
|
|
|
NM_001378454.1(ALMS1):c.35_37dup (p.Leu12_Glu13insVal)
|
rs1244345693
|
|
NM_001378454.1(ALMS1):c.3600T>C (p.Ile1200=)
|
|
|
NM_001378454.1(ALMS1):c.360_361insTATCAAGTATATCAA (p.Ile120_Val121insTyrGlnValTyrGln)
|
rs1553398843
|
|
NM_001378454.1(ALMS1):c.3610C>A (p.Gln1204Lys)
|
rs2103779570
|
|
NM_001378454.1(ALMS1):c.3615C>T (p.Thr1205=)
|
|
|
NM_001378454.1(ALMS1):c.3617T>C (p.Leu1206Ser)
|
|
|
NM_001378454.1(ALMS1):c.3618G>A (p.Leu1206=)
|
rs755365899
|
|
NM_001378454.1(ALMS1):c.3621A>C (p.Pro1207=)
|
|
|
NM_001378454.1(ALMS1):c.3631A>G (p.Ile1211Val)
|
|
|
NM_001378454.1(ALMS1):c.3635C>T (p.Pro1212Leu)
|
rs747033635
|
|
NM_001378454.1(ALMS1):c.3644C>T (p.Ala1215Val)
|
|
|
NM_001378454.1(ALMS1):c.3654T>A (p.Val1218=)
|
rs1400230315
|
|
NM_001378454.1(ALMS1):c.3664C>A (p.Leu1222Ile)
|
|
|
NM_001378454.1(ALMS1):c.3667G>A (p.Gly1223Arg)
|
|
|
NM_001378454.1(ALMS1):c.3675T>C (p.Ala1225=)
|
rs1671901472
|
|
NM_001378454.1(ALMS1):c.3676_3693del (p.Asp1226_Thr1231del)
|
rs2103779760
|
|
NM_001378454.1(ALMS1):c.3694C>T (p.Pro1232Ser)
|
|
|
NM_001378454.1(ALMS1):c.3699T>A (p.Thr1233=)
|
rs1425724214
|
|
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[14] (p.Glu28dup)
|
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[17] (p.Glu25_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[20] (p.Glu22_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[21] (p.Glu21_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.3701C>A (p.Pro1234Gln)
|
|
|
NM_001378454.1(ALMS1):c.3701C>T (p.Pro1234Leu)
|
|
|
NM_001378454.1(ALMS1):c.3703A>G (p.Thr1235Ala)
|
|
|
NM_001378454.1(ALMS1):c.3705C>G (p.Thr1235=)
|
rs2103779892
|
|
NM_001378454.1(ALMS1):c.3706T>A (p.Ser1236Thr)
|
|
|
NM_001378454.1(ALMS1):c.3706T>C (p.Ser1236Pro)
|
|
|
NM_001378454.1(ALMS1):c.3712T>G (p.Ser1238Ala)
|
|
|
NM_001378454.1(ALMS1):c.3712_3715del (p.Ser1238fs)
|
|
|
NM_001378454.1(ALMS1):c.3718_3721del (p.Ser1240fs)
|
rs868776324
|
|
NM_001378454.1(ALMS1):c.3723C>T (p.His1241=)
|
rs2103779956
|
|
NM_001378454.1(ALMS1):c.3725C>G (p.Thr1242Arg)
|
rs1238618740
|
|
NM_001378454.1(ALMS1):c.3726A>G (p.Thr1242=)
|
|
|
NM_001378454.1(ALMS1):c.3728A>G (p.Glu1243Gly)
|
|
|
NM_001378454.1(ALMS1):c.3729_3730del (p.Lys1244fs)
|
|
|
NM_001378454.1(ALMS1):c.3730A>G (p.Lys1244Glu)
|
rs757303904
|
|
NM_001378454.1(ALMS1):c.3734C>G (p.Pro1245Arg)
|
rs1558648928
|
|
NM_001378454.1(ALMS1):c.3734C>T (p.Pro1245Leu)
|
rs1558648928
|
|
NM_001378454.1(ALMS1):c.3738T>C (p.Gly1246=)
|
|
|
NM_001378454.1(ALMS1):c.3751C>T (p.Gln1251Ter)
|
|
|
NM_001378454.1(ALMS1):c.3752A>G (p.Gln1251Arg)
|
|
|
NM_001378454.1(ALMS1):c.3755T>G (p.Val1252Gly)
|
|
|
NM_001378454.1(ALMS1):c.3757T>C (p.Leu1253=)
|
rs1671904168
|
|
NM_001378454.1(ALMS1):c.3759G>A (p.Leu1253=)
|
|
|
NM_001378454.1(ALMS1):c.375T>C (p.Asn125=)
|
|
|
NM_001378454.1(ALMS1):c.375TAG[1] (p.Ser126del)
|
rs760942576
|
|
NM_001378454.1(ALMS1):c.3769C>T (p.His1257Tyr)
|
|
|
NM_001378454.1(ALMS1):c.3774A>G (p.Pro1258=)
|
|
|
NM_001378454.1(ALMS1):c.3778G>T (p.Glu1260Ter)
|
|
|
NM_001378454.1(ALMS1):c.3780A>G (p.Glu1260=)
|
|
|
NM_001378454.1(ALMS1):c.3781G>T (p.Glu1261Ter)
|
rs1085307054
|
|
NM_001378454.1(ALMS1):c.3786T>A (p.Ala1262=)
|
|
|
NM_001378454.1(ALMS1):c.378T>C (p.Ser126=)
|
rs1381438379
|
|
NM_001378454.1(ALMS1):c.3799G>A (p.Val1267Ile)
|
rs770278707
|
|
NM_001378454.1(ALMS1):c.3799G>C (p.Val1267Leu)
|
|
|
NM_001378454.1(ALMS1):c.3799G>T (p.Val1267Phe)
|
|
|
NM_001378454.1(ALMS1):c.379A>G (p.Arg127Gly)
|
|
|
NM_001378454.1(ALMS1):c.3809A>G (p.Glu1270Gly)
|
|
|
NM_001378454.1(ALMS1):c.3810A>G (p.Glu1270=)
|
|
|
NM_001378454.1(ALMS1):c.3812C>T (p.Pro1271Leu)
|
rs372563916
|
|
NM_001378454.1(ALMS1):c.3815_3817del (p.Val1272del)
|
rs954466797
|
|
NM_001378454.1(ALMS1):c.3822G>A (p.Gln1274=)
|
rs2103780287
|
|
NM_001378454.1(ALMS1):c.3825A>G (p.Thr1275=)
|
rs1553403752
|
|
NM_001378454.1(ALMS1):c.3828T>C (p.Thr1276=)
|
rs1553403755
|
|
NM_001378454.1(ALMS1):c.3833C>T (p.Thr1278Ile)
|
rs1292358818
|
|
NM_001378454.1(ALMS1):c.3835C>T (p.Pro1279Ser)
|
rs1422410913
|
|
NM_001378454.1(ALMS1):c.3838G>A (p.Ala1280Thr)
|
rs767729719
|
|
NM_001378454.1(ALMS1):c.3838G>C (p.Ala1280Pro)
|
rs767729719
|
|
NM_001378454.1(ALMS1):c.3838_4122del (p.Ala1280_Pro1374del)
|
rs2103780150
|
|
NM_001378454.1(ALMS1):c.3839C>G (p.Ala1280Gly)
|
|
|
NM_001378454.1(ALMS1):c.3840T>G (p.Ala1280=)
|
|
|
NM_001378454.1(ALMS1):c.3850A>G (p.Thr1284Ala)
|
rs1366506910
|
|
NM_001378454.1(ALMS1):c.3852T>C (p.Thr1284=)
|
rs1671906603
|
|
NM_001378454.1(ALMS1):c.3853T>G (p.Ser1285Ala)
|
|
|
NM_001378454.1(ALMS1):c.3855C>T (p.Ser1285=)
|
rs1419621960
|
|
NM_001378454.1(ALMS1):c.3857A>C (p.Tyr1286Ser)
|
rs2103780445
|
|
NM_001378454.1(ALMS1):c.3858C>T (p.Tyr1286=)
|
|
|
NM_001378454.1(ALMS1):c.3859T>C (p.Ser1287Pro)
|
|
|
NM_001378454.1(ALMS1):c.3862_3863insTAT (p.Gln1288delinsLeuTer)
|
|
|
NM_001378454.1(ALMS1):c.3864A>G (p.Gln1288=)
|
|
|
NM_001378454.1(ALMS1):c.3867T>G (p.Tyr1289Ter)
|
rs369314182
|
|
NM_001378454.1(ALMS1):c.3868A>T (p.Arg1290Ter)
|
|
|
NM_001378454.1(ALMS1):c.3872_3875dup (p.Pro1293fs)
|
|
|
NM_001378454.1(ALMS1):c.3873_3874del (p.Lys1292fs)
|
rs1553403762
|
|
NM_001378454.1(ALMS1):c.3874A>G (p.Lys1292Glu)
|
rs2103780517
|
|
NM_001378454.1(ALMS1):c.387A>C (p.Gln129His)
|
|
|
NM_001378454.1(ALMS1):c.3888C>T (p.Phe1296=)
|
|
|
NM_001378454.1(ALMS1):c.3891C>A (p.Tyr1297Ter)
|
rs2103780557
|
|
NM_001378454.1(ALMS1):c.3895C>T (p.Gln1299Ter)
|
|
|
NM_001378454.1(ALMS1):c.3897G>A (p.Gln1299=)
|
rs745335322
|
|
NM_001378454.1(ALMS1):c.3897G>T (p.Gln1299His)
|
rs745335322
|
|
NM_001378454.1(ALMS1):c.3899C>A (p.Ser1300Ter)
|
rs769219669
|
|
NM_001378454.1(ALMS1):c.3899C>T (p.Ser1300Leu)
|
rs769219669
|
|
NM_001378454.1(ALMS1):c.38A>G (p.Glu13Gly)
|
rs1574423651
|
|
NM_001378454.1(ALMS1):c.3900G>T (p.Ser1300=)
|
rs1480882041
|
|
NM_001378454.1(ALMS1):c.3903G>A (p.Leu1301=)
|
rs1572934606
|
|
NM_001378454.1(ALMS1):c.3903_4072del (p.Leu1301fs)
|
rs2103780610
|
|
NM_001378454.1(ALMS1):c.3907A>G (p.Ser1303Gly)
|
|
|
NM_001378454.1(ALMS1):c.3907AGT[1] (p.Ser1304del)
|
rs775132874
|
|
NM_001378454.1(ALMS1):c.3915T>C (p.His1305=)
|
|
|
NM_001378454.1(ALMS1):c.3918A>G (p.Leu1306=)
|
rs2103780690
|
|
NM_001378454.1(ALMS1):c.3918_3921del (p.Thr1307fs)
|
|
|
NM_001378454.1(ALMS1):c.3920C>T (p.Thr1307Ile)
|
|
|
NM_001378454.1(ALMS1):c.3922G>A (p.Glu1308Lys)
|
|
|
NM_001378454.1(ALMS1):c.3936_4220del (p.Ala1320_Pro1414del)
|
rs2103780643
|
|
NM_001378454.1(ALMS1):c.3938T>C (p.Val1313Ala)
|
|
|
NM_001378454.1(ALMS1):c.3941C>T (p.Ser1314Leu)
|
rs2103780749
|
|
NM_001378454.1(ALMS1):c.3948T>G (p.Val1316=)
|
rs1338636347
|
|
NM_001378454.1(ALMS1):c.3951T>G (p.Pro1317=)
|
|
|
NM_001378454.1(ALMS1):c.3952G>T (p.Gly1318Ter)
|
|
|
NM_001378454.1(ALMS1):c.3954_3955del (p.Pro1319fs)
|
rs2103780806
|
|
NM_001378454.1(ALMS1):c.3957A>C (p.Pro1319=)
|
rs2103780813
|
|
NM_001378454.1(ALMS1):c.3960T>C (p.Ala1320=)
|
rs1279158289
|
|
NM_001378454.1(ALMS1):c.3961G>T (p.Asp1321Tyr)
|
rs2103780841
|
|
NM_001378454.1(ALMS1):c.3963C>G (p.Asp1321Glu)
|
|
|
NM_001378454.1(ALMS1):c.3967A>G (p.Lys1323Glu)
|
|
|
NM_001378454.1(ALMS1):c.3970A>G (p.Thr1324Ala)
|
rs1671910039
|
|
NM_001378454.1(ALMS1):c.3978A>G (p.Ile1326Met)
|
rs2103780894
|
|
NM_001378454.1(ALMS1):c.3978A>T (p.Ile1326=)
|
|
|
NM_001378454.1(ALMS1):c.3980C>T (p.Pro1327Leu)
|
rs764135588
|
|
NM_001378454.1(ALMS1):c.398C>T (p.Thr133Ile)
|
rs1348003970
|
|
NM_001378454.1(ALMS1):c.3992C>T (p.Ser1331Phe)
|
|
|
NM_001378454.1(ALMS1):c.3999C>G (p.Phe1333Leu)
|
|
|
NM_001378454.1(ALMS1):c.399T>C (p.Thr133=)
|
|
|
NM_001378454.1(ALMS1):c.4002C>G (p.Tyr1334Ter)
|
rs2103780942
|
|
NM_001378454.1(ALMS1):c.4002C>T (p.Tyr1334=)
|
|
|
NM_001378454.1(ALMS1):c.4004C>G (p.Ser1335Ter)
|
|
|
NM_001378454.1(ALMS1):c.4007A>G (p.His1336Arg)
|
rs2103780957
|
|
NM_001378454.1(ALMS1):c.4008C>T (p.His1336=)
|
rs1572934743
|
|
NM_001378454.1(ALMS1):c.4010_4011del (p.Thr1337fs)
|
rs2103780952
|
|
NM_001378454.1(ALMS1):c.4012G>C (p.Glu1338Gln)
|
|
|
NM_001378454.1(ALMS1):c.4017G>A (p.Lys1339=)
|
|
|
NM_001378454.1(ALMS1):c.4020T>C (p.Pro1340=)
|
rs1175672394
|
|
NM_001378454.1(ALMS1):c.4022G>A (p.Gly1341Asp)
|
rs1671911104
|
|
NM_001378454.1(ALMS1):c.4022G>C (p.Gly1341Ala)
|
|
|
NM_001378454.1(ALMS1):c.4024G>T (p.Val1342Phe)
|
|
|
NM_001378454.1(ALMS1):c.4025T>G (p.Val1342Gly)
|
rs939609171
|
|
NM_001378454.1(ALMS1):c.4028T>C (p.Phe1343Ser)
|
|
|
NM_001378454.1(ALMS1):c.4035A>G (p.Gln1345=)
|
|
|
NM_001378454.1(ALMS1):c.4035_4047del (p.Gln1345fs)
|
|
|
NM_001378454.1(ALMS1):c.4036C>G (p.Gln1346Glu)
|
|
|
NM_001378454.1(ALMS1):c.4036C>T (p.Gln1346Ter)
|
|
|
NM_001378454.1(ALMS1):c.4039del (p.Val1347fs)
|
rs2103781095
|
|
NM_001378454.1(ALMS1):c.4044G>A (p.Leu1348=)
|
rs2103781109
|
|
NM_001378454.1(ALMS1):c.4045C>T (p.Pro1349Ser)
|
rs1553403796
|
|
NM_001378454.1(ALMS1):c.4051A>T (p.Ser1351Cys)
|
rs779496090
|
|
NM_001378454.1(ALMS1):c.4052G>A (p.Ser1351Asn)
|
|
|
NM_001378454.1(ALMS1):c.4053T>C (p.Ser1351=)
|
rs1671912203
|
|
NM_001378454.1(ALMS1):c.4057C>T (p.Pro1353Ser)
|
rs1005994594
|
|
NM_001378454.1(ALMS1):c.4059A>G (p.Pro1353=)
|
rs2103781195
|
|
NM_001378454.1(ALMS1):c.405G>C (p.Val135=)
|
rs1485864480
|
|
NM_001378454.1(ALMS1):c.4060A>C (p.Thr1354Pro)
|
rs1330377280
|
|
NM_001378454.1(ALMS1):c.4060A>G (p.Thr1354Ala)
|
rs1330377280
|
|
NM_001378454.1(ALMS1):c.4071T>C (p.Ala1357=)
|
rs1572934855
|
|
NM_001378454.1(ALMS1):c.4071T>G (p.Ala1357=)
|
rs1572934855
|
|
NM_001378454.1(ALMS1):c.4077A>G (p.Lys1359=)
|
rs2103781279
|
|
NM_001378454.1(ALMS1):c.4082C>T (p.Ser1361Leu)
|
rs2103781298
|
|
NM_001378454.1(ALMS1):c.4083A>G (p.Ser1361=)
|
|
|
NM_001378454.1(ALMS1):c.4084G>T (p.Val1362Phe)
|
|
|
NM_001378454.1(ALMS1):c.408C>T (p.Val136=)
|
|
|
NM_001378454.1(ALMS1):c.4091C>T (p.Ser1364Phe)
|
|
|
NM_001378454.1(ALMS1):c.4103A>G (p.Asp1368Gly)
|
|
|
NM_001378454.1(ALMS1):c.4107G>A (p.Gln1369=)
|
|
|
NM_001378454.1(ALMS1):c.410G>C (p.Cys137Ser)
|
|
|
NM_001378454.1(ALMS1):c.4110A>G (p.Thr1370=)
|
rs1379058502
|
|
NM_001378454.1(ALMS1):c.4110_4112dup (p.Thr1371dup)
|
rs1448848361
|
|
NM_001378454.1(ALMS1):c.4115G>T (p.Gly1372Val)
|
|
|
NM_001378454.1(ALMS1):c.4118C>T (p.Thr1373Ile)
|
rs1671914302
|
|
NM_001378454.1(ALMS1):c.4128A>T (p.Val1376=)
|
|
|
NM_001378454.1(ALMS1):c.4131C>G (p.Thr1377=)
|
rs759705921
|
|
NM_001378454.1(ALMS1):c.4134_4418del (p.Thr1379_Ser1473del)
|
rs2103781426
|
|
NM_001378454.1(ALMS1):c.4136C>T (p.Thr1379Ile)
|
|
|
NM_001378454.1(ALMS1):c.4138_4141del (p.Ser1380fs)
|
|
|
NM_001378454.1(ALMS1):c.4144_4147del (p.Ser1382fs)
|
rs2103781518
|
|
NM_001378454.1(ALMS1):c.4146A>C (p.Ser1382=)
|
|
|
NM_001378454.1(ALMS1):c.4149dup (p.His1384fs)
|
rs1671915447
|
|
NM_001378454.1(ALMS1):c.4150C>T (p.His1384Tyr)
|
rs1228297685
|
|
NM_001378454.1(ALMS1):c.4151A>G (p.His1384Arg)
|
|
|
NM_001378454.1(ALMS1):c.4155A>G (p.Thr1385=)
|
|
|
NM_001378454.1(ALMS1):c.4160A>C (p.Lys1387Thr)
|
rs1264554750
|
|
NM_001378454.1(ALMS1):c.4164G>A (p.Pro1388=)
|
|
|
NM_001378454.1(ALMS1):c.4164G>C (p.Pro1388=)
|
rs1215068896
|
|
NM_001378454.1(ALMS1):c.4164G>T (p.Pro1388=)
|
rs1215068896
|
|
NM_001378454.1(ALMS1):c.4165A>G (p.Ser1389Gly)
|
rs866496302
|
|
NM_001378454.1(ALMS1):c.4167T>C (p.Ser1389=)
|
rs2103781665
|
|
NM_001378454.1(ALMS1):c.4170T>G (p.Ile1390Met)
|
rs1671916265
|
|
NM_001378454.1(ALMS1):c.4172T>C (p.Phe1391Ser)
|
|
|
NM_001378454.1(ALMS1):c.4175A>G (p.Tyr1392Cys)
|
|
|
NM_001378454.1(ALMS1):c.4179_4180inv (p.Gln1394Ter)
|
|
|
NM_001378454.1(ALMS1):c.4182G>A (p.Gln1394=)
|
rs2103781742
|
|
NM_001378454.1(ALMS1):c.4184C>T (p.Ser1395Leu)
|
|
|
NM_001378454.1(ALMS1):c.4185G>A (p.Ser1395=)
|
rs758814503
|
|
NM_001378454.1(ALMS1):c.4185G>T (p.Ser1395=)
|
rs758814503
|
|
NM_001378454.1(ALMS1):c.4188G>A (p.Leu1396=)
|
|
|
NM_001378454.1(ALMS1):c.4200T>C (p.His1400=)
|
|
|
NM_001378454.1(ALMS1):c.4203A>G (p.Leu1401=)
|
rs2103781830
|
|
NM_001378454.1(ALMS1):c.4203A>T (p.Leu1401=)
|
rs2103781830
|
|
NM_001378454.1(ALMS1):c.4210G>T (p.Glu1404Ter)
|
rs2103781864
|
|
NM_001378454.1(ALMS1):c.4212G>A (p.Glu1404=)
|
rs2103781869
|
|
NM_001378454.1(ALMS1):c.4213G>A (p.Ala1405Thr)
|
rs1671917742
|
|
NM_001378454.1(ALMS1):c.4216A>G (p.Lys1406Glu)
|
|
|
NM_001378454.1(ALMS1):c.4221dup (p.Val1408fs)
|
rs2103781901
|
|
NM_001378454.1(ALMS1):c.4223T>C (p.Val1408Ala)
|
rs750124571
|
|
NM_001378454.1(ALMS1):c.4224T>C (p.Val1408=)
|
|
|
NM_001378454.1(ALMS1):c.4227A>G (p.Ser1409=)
|
|
|
NM_001378454.1(ALMS1):c.4229C>T (p.Ala1410Val)
|
|
|
NM_001378454.1(ALMS1):c.422C>T (p.Thr141Ile)
|
|
|
NM_001378454.1(ALMS1):c.4231G>A (p.Val1411Ile)
|
rs1553403843
|
|
NM_001378454.1(ALMS1):c.4235C>T (p.Pro1412Leu)
|
|
|
NM_001378454.1(ALMS1):c.4238G>C (p.Gly1413Ala)
|
rs886038612
|
|
NM_001378454.1(ALMS1):c.4241C>G (p.Pro1414Arg)
|
|
|
NM_001378454.1(ALMS1):c.4242A>G (p.Pro1414=)
|
|
|
NM_001378454.1(ALMS1):c.4243G>C (p.Gly1415Arg)
|
rs2103781986
|
|
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs)
|
rs1553403851
|
|
NM_001378454.1(ALMS1):c.4250G>A (p.Arg1417Gln)
|
rs771362238
|
|
NM_001378454.1(ALMS1):c.4257T>C (p.Thr1419=)
|
|
|
NM_001378454.1(ALMS1):c.425C>T (p.Ala142Val)
|
rs2103675826
|
|
NM_001378454.1(ALMS1):c.4260G>A (p.Gly1420=)
|
rs1302057894
|
|
NM_001378454.1(ALMS1):c.4265C>T (p.Pro1422Leu)
|
|
|
NM_001378454.1(ALMS1):c.4268C>T (p.Thr1423Ile)
|
|
|
NM_001378454.1(ALMS1):c.4271T>A (p.Leu1424Ter)
|
rs2103782122
|
|
NM_001378454.1(ALMS1):c.4275C>T (p.Pro1425=)
|
rs775642753
|
|
NM_001378454.1(ALMS1):c.4281T>G (p.Thr1427=)
|
|
|
NM_001378454.1(ALMS1):c.4286A>C (p.Tyr1429Ser)
|
rs763136053
|
|
NM_001378454.1(ALMS1):c.4287C>T (p.Tyr1429=)
|
rs2103782170
|
|
NM_001378454.1(ALMS1):c.4288T>G (p.Ser1430Ala)
|
rs1671920005
|
|
NM_001378454.1(ALMS1):c.4291C>A (p.His1431Asn)
|
|
|
NM_001378454.1(ALMS1):c.4293C>T (p.His1431=)
|
|
|
NM_001378454.1(ALMS1):c.4293_4296del (p.His1431fs)
|
rs398122993
|
|
NM_001378454.1(ALMS1):c.429G>A (p.Gln143=)
|
|
|
NM_001378454.1(ALMS1):c.42G>A (p.Glu14=)
|
|
|
NM_001378454.1(ALMS1):c.4300A>T (p.Lys1434Ter)
|
|
|
NM_001378454.1(ALMS1):c.4305T>C (p.Pro1435=)
|
|
|
NM_001378454.1(ALMS1):c.4305T>G (p.Pro1435=)
|
|
|
NM_001378454.1(ALMS1):c.4306G>A (p.Gly1436Ser)
|
rs759249886
|
|
NM_001378454.1(ALMS1):c.4310G>T (p.Ser1437Ile)
|
|
|
NM_001378454.1(ALMS1):c.4316A>G (p.Tyr1439Cys)
|
|
|
NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter)
|
rs1208636696
|
|
NM_001378454.1(ALMS1):c.4320A>G (p.Gln1440=)
|
|
|
NM_001378454.1(ALMS1):c.4321C>T (p.Gln1441Ter)
|
|
|
NM_001378454.1(ALMS1):c.4326C>G (p.Val1442=)
|
rs2103782316
|
|
NM_001378454.1(ALMS1):c.4329G>A (p.Leu1443=)
|
|
|
NM_001378454.1(ALMS1):c.432G>C (p.Arg144=)
|
|
|
NM_001378454.1(ALMS1):c.4331del (p.Pro1444fs)
|
rs1553403864
|
|
NM_001378454.1(ALMS1):c.4333C>T (p.His1445Tyr)
|
rs746087402
|
|
NM_001378454.1(ALMS1):c.4335T>C (p.His1445=)
|
rs1671921734
|
|
NM_001378454.1(ALMS1):c.4335_4336del (p.His1445fs)
|
|
|
NM_001378454.1(ALMS1):c.4338T>G (p.Ser1446Arg)
|
|
|
NM_001378454.1(ALMS1):c.4339C>T (p.His1447Tyr)
|
|
|
NM_001378454.1(ALMS1):c.4342C>T (p.Leu1448=)
|
rs2103782408
|
|
NM_001378454.1(ALMS1):c.4347T>C (p.Pro1449=)
|
rs2103782437
|
|
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter)
|
rs778728424
|
|
NM_001378454.1(ALMS1):c.4351G>T (p.Glu1451Ter)
|
|
|
NM_001378454.1(ALMS1):c.4354G>A (p.Ala1452Thr)
|
|
|
NM_001378454.1(ALMS1):c.4357T>C (p.Leu1453=)
|
rs879109152
|
|
NM_001378454.1(ALMS1):c.4360G>T (p.Glu1454Ter)
|
|
|
NM_001378454.1(ALMS1):c.4363G>A (p.Val1455Ile)
|
rs1445707777
|
|
NM_001378454.1(ALMS1):c.4369G>T (p.Val1457Phe)
|
rs373453289
|
|
NM_001378454.1(ALMS1):c.4375C>G (p.Pro1459Ala)
|
|
|
NM_001378454.1(ALMS1):c.4381C>A (p.Pro1461Thr)
|
rs2103782534
|
|
NM_001378454.1(ALMS1):c.4383A>G (p.Pro1461=)
|
rs2103782553
|
|
NM_001378454.1(ALMS1):c.4388_4528del (p.Asp1463_Val1509del)
|
|
|
NM_001378454.1(ALMS1):c.4390C>T (p.Gln1464Ter)
|
rs904289501
|
|
NM_001378454.1(ALMS1):c.4391A>G (p.Gln1464Arg)
|
|
|
NM_001378454.1(ALMS1):c.4391A>T (p.Gln1464Leu)
|
|
|
NM_001378454.1(ALMS1):c.4395G>A (p.Thr1465=)
|
rs530399810
|
|
NM_001378454.1(ALMS1):c.43_44insGGG (p.Glu14_Glu15insGly)
|
rs778948871
|
|
NM_001378454.1(ALMS1):c.43_44insTGGAGGAGGAGG (p.Glu14_Glu15insValGluGluGlu)
|
rs1553396123
|
|
NM_001378454.1(ALMS1):c.4404A>G (p.Thr1468=)
|
|
|
NM_001378454.1(ALMS1):c.4407A>G (p.Pro1469=)
|
rs2103782683
|
|
NM_001378454.1(ALMS1):c.4411_4412del (p.Val1471fs)
|
rs2103782701
|
|
NM_001378454.1(ALMS1):c.4413A>G (p.Val1471=)
|
rs2103782733
|
|
NM_001378454.1(ALMS1):c.4415C>T (p.Thr1472Ile)
|
|
|
NM_001378454.1(ALMS1):c.4419C>T (p.Ser1473=)
|
rs1237859208
|
|
NM_001378454.1(ALMS1):c.441G>T (p.Gly147=)
|
rs2103675916
|
|
NM_001378454.1(ALMS1):c.4425C>T (p.Ser1475=)
|
|
|
NM_001378454.1(ALMS1):c.4425del (p.Ser1476fs)
|
rs1553403882
|
|
NM_001378454.1(ALMS1):c.4426A>G (p.Ser1476Gly)
|
|
|
NM_001378454.1(ALMS1):c.4427G>C (p.Ser1476Thr)
|
|
|
NM_001378454.1(ALMS1):c.4428C>T (p.Ser1476=)
|
rs2103782815
|
|
NM_001378454.1(ALMS1):c.4436G>A (p.Gly1479Glu)
|
|
|
NM_001378454.1(ALMS1):c.4436G>T (p.Gly1479Val)
|
|
|
NM_001378454.1(ALMS1):c.4437A>G (p.Gly1479=)
|
rs2103782849
|
|
NM_001378454.1(ALMS1):c.443A>T (p.Asp148Val)
|
|
|
NM_001378454.1(ALMS1):c.4446C>T (p.Pro1482=)
|
|
|
NM_001378454.1(ALMS1):c.444T>C (p.Asp148=)
|
rs2103675943
|
|
NM_001378454.1(ALMS1):c.4458C>T (p.Tyr1486=)
|
rs2103782920
|
|
NM_001378454.1(ALMS1):c.4459A>G (p.Lys1487Glu)
|
|
|
NM_001378454.1(ALMS1):c.446A>G (p.Asp149Gly)
|
rs1671019702
|
|
NM_001378454.1(ALMS1):c.4478G>C (p.Gly1493Ala)
|
rs1347210507
|
|
NM_001378454.1(ALMS1):c.4482T>C (p.His1494=)
|
|
|
NM_001378454.1(ALMS1):c.4488T>C (p.Pro1496=)
|
|
|
NM_001378454.1(ALMS1):c.4498C>T (p.Leu1500=)
|
|
|
NM_001378454.1(ALMS1):c.450+10C>T
|
|
|
NM_001378454.1(ALMS1):c.450+11T>G
|
rs763724672
|
|
NM_001378454.1(ALMS1):c.450+12G>A
|
rs1553398856
|
|
NM_001378454.1(ALMS1):c.450+19G>A
|
rs1553398858
|
|
NM_001378454.1(ALMS1):c.450+1G>A
|
rs1302255267
|
|
NM_001378454.1(ALMS1):c.450+22_450+25del
|
rs764559198
|
|
NM_001378454.1(ALMS1):c.450+24_450+40del
|
rs1553398860
|
|
NM_001378454.1(ALMS1):c.450+2T>C
|
rs1671019928
|
|
NM_001378454.1(ALMS1):c.450+7C>G
|
|
|
NM_001378454.1(ALMS1):c.450+7C>T
|
|
|
NM_001378454.1(ALMS1):c.4509A>T (p.Ser1503=)
|
rs2103783053
|
|
NM_001378454.1(ALMS1):c.451-10A>C
|
|
|
NM_001378454.1(ALMS1):c.451-12A>G
|
rs1274254541
|
|
NM_001378454.1(ALMS1):c.451-12A>T
|
|
|
NM_001378454.1(ALMS1):c.451-14dup
|
|
|
NM_001378454.1(ALMS1):c.451-16T>C
|
rs1553399953
|
|
NM_001378454.1(ALMS1):c.451-17C>T
|
|
|
NM_001378454.1(ALMS1):c.451-2A>G
|
|
|
NM_001378454.1(ALMS1):c.451-5T>C
|
rs774098604
|
|
NM_001378454.1(ALMS1):c.4515T>C (p.Ala1505=)
|
rs941586130
|
|
NM_001378454.1(ALMS1):c.4527T>C (p.Val1509=)
|
rs2103783089
|
|
NM_001378454.1(ALMS1):c.4535C>G (p.Thr1512Arg)
|
|
|
NM_001378454.1(ALMS1):c.4542C>G (p.Gly1514=)
|
|
|
NM_001378454.1(ALMS1):c.4542C>T (p.Gly1514=)
|
rs763511170
|
|
NM_001378454.1(ALMS1):c.4545A>G (p.Ala1515=)
|
rs1248066457
|
|
NM_001378454.1(ALMS1):c.4546C>A (p.Pro1516Thr)
|
|
|
NM_001378454.1(ALMS1):c.4549A>G (p.Thr1517Ala)
|
rs1572935497
|
|
NM_001378454.1(ALMS1):c.4551T>C (p.Thr1517=)
|
|
|
NM_001378454.1(ALMS1):c.4552A>C (p.Ile1518Leu)
|
|
|
NM_001378454.1(ALMS1):c.4554A>G (p.Ile1518Met)
|
|
|
NM_001378454.1(ALMS1):c.4557C>T (p.Thr1519=)
|
|
|
NM_001378454.1(ALMS1):c.4558T>G (p.Ser1520Ala)
|
|
|
NM_001378454.1(ALMS1):c.4565C>G (p.Ser1522Cys)
|
rs1060500036
|
|
NM_001378454.1(ALMS1):c.4566C>T (p.Ser1522=)
|
rs2103783250
|
|
NM_001378454.1(ALMS1):c.4573_4716del (p.Gln1525_Ser1572del)
|
|
|
NM_001378454.1(ALMS1):c.4574A>C (p.Gln1525Pro)
|
|
|
NM_001378454.1(ALMS1):c.4577A>G (p.His1526Arg)
|
rs1164930753
|
|
NM_001378454.1(ALMS1):c.4587G>A (p.Lys1529=)
|
rs768094497
|
|
NM_001378454.1(ALMS1):c.4593C>G (p.Gly1531=)
|
|
|
NM_001378454.1(ALMS1):c.4599C>A (p.Phe1533Leu)
|
|
|
NM_001378454.1(ALMS1):c.4601A>G (p.Tyr1534Cys)
|
rs751003573
|
|
NM_001378454.1(ALMS1):c.4602C>T (p.Tyr1534=)
|
rs1671928123
|
|
NM_001378454.1(ALMS1):c.4606C>G (p.Leu1536Val)
|
rs2103783328
|
|
NM_001378454.1(ALMS1):c.4609G>A (p.Ala1537Thr)
|
rs2103783338
|
|
NM_001378454.1(ALMS1):c.4624C>G (p.Gln1542Glu)
|
rs1671928724
|
|
NM_001378454.1(ALMS1):c.4626A>C (p.Gln1542His)
|
rs201603580
|
|
NM_001378454.1(ALMS1):c.4626A>G (p.Gln1542=)
|
rs201603580
|
|
NM_001378454.1(ALMS1):c.462T>C (p.Ser154=)
|
rs1671236853
|
|
NM_001378454.1(ALMS1):c.4638G>A (p.Glu1546=)
|
rs2103783427
|
|
NM_001378454.1(ALMS1):c.4639G>A (p.Ala1547Thr)
|
|
|
NM_001378454.1(ALMS1):c.4641T>A (p.Ala1547=)
|
|
|
NM_001378454.1(ALMS1):c.4642C>T (p.Leu1548Phe)
|
rs2103783451
|
|
NM_001378454.1(ALMS1):c.4644C>T (p.Leu1548=)
|
|
|
NM_001378454.1(ALMS1):c.4645dup (p.Arg1549fs)
|
rs1553403917
|
|
NM_001378454.1(ALMS1):c.4647A>G (p.Arg1549=)
|
rs564445910
|
|
NM_001378454.1(ALMS1):c.4651T>G (p.Ser1551Ala)
|
|
|
NM_001378454.1(ALMS1):c.4659T>G (p.Ala1553=)
|
rs1191872718
|
|
NM_001378454.1(ALMS1):c.4662_4663delinsAT (p.Gly1555Ter)
|
|
|
NM_001378454.1(ALMS1):c.4667C>T (p.Pro1556Leu)
|
|
|
NM_001378454.1(ALMS1):c.4668A>G (p.Pro1556=)
|
|
|
NM_001378454.1(ALMS1):c.4678A>G (p.Thr1560Ala)
|
rs1558649606
|
|
NM_001378454.1(ALMS1):c.4683T>A (p.Thr1561=)
|
rs2103783628
|
|
NM_001378454.1(ALMS1):c.4684G>A (p.Gly1562Ser)
|
rs1671930409
|
|
NM_001378454.1(ALMS1):c.468T>C (p.His156=)
|
|
|
NM_001378454.1(ALMS1):c.4695C>G (p.Thr1565=)
|
rs2103783674
|
|
NM_001378454.1(ALMS1):c.46G>T (p.Glu16Ter)
|
|
|
NM_001378454.1(ALMS1):c.46_47insCGG (p.Glu15_Glu16insAla)
|
rs1558624515
|
|
NM_001378454.1(ALMS1):c.4700C>A (p.Thr1567Asn)
|
|
|
NM_001378454.1(ALMS1):c.4701C>T (p.Thr1567=)
|
rs1301217256
|
|
NM_001378454.1(ALMS1):c.4711_4712dup (p.Ser1572fs)
|
|
|
NM_001378454.1(ALMS1):c.4713C>T (p.Tyr1571=)
|
rs2103783750
|
|
NM_001378454.1(ALMS1):c.4714T>G (p.Ser1572Ala)
|
rs2103783756
|
|
NM_001378454.1(ALMS1):c.4715C>G (p.Ser1572Ter)
|
rs2103783763
|
|
NM_001378454.1(ALMS1):c.4717T>C (p.Phe1573Leu)
|
rs2103783780
|
|
NM_001378454.1(ALMS1):c.4720G>A (p.Gly1574Arg)
|
|
|
NM_001378454.1(ALMS1):c.4721G>C (p.Gly1574Ala)
|
|
|
NM_001378454.1(ALMS1):c.4721del (p.Gly1574fs)
|
rs2103783797
|
|
NM_001378454.1(ALMS1):c.472C>T (p.Leu158Phe)
|
|
|
NM_001378454.1(ALMS1):c.4730C>A (p.Pro1577Gln)
|
rs148568833
|
|
NM_001378454.1(ALMS1):c.4730C>T (p.Pro1577Leu)
|
|
|
NM_001378454.1(ALMS1):c.4731G>T (p.Pro1577=)
|
rs747216050
|
|
NM_001378454.1(ALMS1):c.4733T>C (p.Ile1578Thr)
|
rs2103783837
|
|
NM_001378454.1(ALMS1):c.4742A>G (p.Tyr1581Cys)
|
|
|
NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter)
|
rs1572935708
|
|
NM_001378454.1(ALMS1):c.4749G>A (p.Gln1583=)
|
rs749067384
|
|
NM_001378454.1(ALMS1):c.4749G>T (p.Gln1583His)
|
rs749067384
|
|
NM_001378454.1(ALMS1):c.4751C>G (p.Ala1584Gly)
|
|
|
NM_001378454.1(ALMS1):c.4755T>C (p.Phe1585=)
|
|
|
NM_001378454.1(ALMS1):c.4756C>T (p.Pro1586Ser)
|
rs768373356
|
|
NM_001378454.1(ALMS1):c.4762G>A (p.Gly1588Ser)
|
|
|
NM_001378454.1(ALMS1):c.4763G>T (p.Gly1588Val)
|
|
|
NM_001378454.1(ALMS1):c.4764T>C (p.Gly1588=)
|
|
|
NM_001378454.1(ALMS1):c.4766A>G (p.His1589Arg)
|
|
|
NM_001378454.1(ALMS1):c.4768C>T (p.Leu1590=)
|
|
|
NM_001378454.1(ALMS1):c.4770A>T (p.Leu1590=)
|
rs772781647
|
|
NM_001378454.1(ALMS1):c.4778A>G (p.Glu1593Gly)
|
|
|
NM_001378454.1(ALMS1):c.4779G>A (p.Glu1593=)
|
|
|
NM_001378454.1(ALMS1):c.477T>A (p.Pro159=)
|
rs2103701270
|
|
NM_001378454.1(ALMS1):c.478C>T (p.Gln160Ter)
|
|
|
NM_001378454.1(ALMS1):c.4792T>A (p.Ser1598Thr)
|
|
|
NM_001378454.1(ALMS1):c.4805G>A (p.Gly1602Glu)
|
|
|
NM_001378454.1(ALMS1):c.4809T>C (p.Pro1603=)
|
rs2103784041
|
|
NM_001378454.1(ALMS1):c.4812T>G (p.Thr1604=)
|
|
|
NM_001378454.1(ALMS1):c.4815A>G (p.Glu1605=)
|
rs1671934084
|
|
NM_001378454.1(ALMS1):c.4820del (p.Lys1607fs)
|
rs758098717
|
|
NM_001378454.1(ALMS1):c.4820dup (p.Thr1608fs)
|
rs758098717
|
|
NM_001378454.1(ALMS1):c.4824_4826del (p.Asp1609del)
|
rs1057518311
|
|
NM_001378454.1(ALMS1):c.4828A>G (p.Ile1610Val)
|
|
|
NM_001378454.1(ALMS1):c.4831C>G (p.Pro1611Ala)
|
rs935791709
|
|
NM_001378454.1(ALMS1):c.4833A>C (p.Pro1611=)
|
|
|
NM_001378454.1(ALMS1):c.4835C>T (p.Ala1612Val)
|
|
|
NM_001378454.1(ALMS1):c.4836A>G (p.Ala1612=)
|
|
|
NM_001378454.1(ALMS1):c.4838del (p.Gly1613fs)
|
|
|
NM_001378454.1(ALMS1):c.4843T>A (p.Leu1615Ile)
|
rs375736124
|
|
NM_001378454.1(ALMS1):c.4843T>G (p.Leu1615Val)
|
rs375736124
|
|
NM_001378454.1(ALMS1):c.4846G>A (p.Gly1616Ser)
|
|
|
NM_001378454.1(ALMS1):c.4847G>A (p.Gly1616Asp)
|
|
|
NM_001378454.1(ALMS1):c.4848T>C (p.Gly1616=)
|
|
|
NM_001378454.1(ALMS1):c.4852A>G (p.Ser1618Gly)
|
rs2103784176
|
|
NM_001378454.1(ALMS1):c.4860T>C (p.Leu1620=)
|
rs1307202712
|
|
NM_001378454.1(ALMS1):c.4860T>G (p.Leu1620=)
|
rs1307202712
|
|
NM_001378454.1(ALMS1):c.4864G>C (p.Glu1622Gln)
|
|
|
NM_001378454.1(ALMS1):c.4869G>A (p.Lys1623=)
|
rs2103784240
|
|
NM_001378454.1(ALMS1):c.486G>T (p.Met162Ile)
|
rs1671237621
|
|
NM_001378454.1(ALMS1):c.4873A>G (p.Ile1625Val)
|
|
|
NM_001378454.1(ALMS1):c.4878T>A (p.Thr1626=)
|
rs2103784269
|
|
NM_001378454.1(ALMS1):c.4879T>A (p.Phe1627Ile)
|
|
|
NM_001378454.1(ALMS1):c.4881C>T (p.Phe1627=)
|
rs983255370
|
|
NM_001378454.1(ALMS1):c.4884C>T (p.Tyr1628=)
|
|
|
NM_001378454.1(ALMS1):c.4887G>T (p.Arg1629=)
|
|
|
NM_001378454.1(ALMS1):c.4893T>C (p.Ala1631=)
|
rs2103784349
|
|
NM_001378454.1(ALMS1):c.4899A>G (p.Leu1633=)
|
rs1060503816
|
|
NM_001378454.1(ALMS1):c.4902C>T (p.Asp1634=)
|
rs1553403951
|
|
NM_001378454.1(ALMS1):c.4905T>C (p.Ser1635=)
|
rs2103784392
|
|
NM_001378454.1(ALMS1):c.4909C>T (p.Leu1637=)
|
|
|
NM_001378454.1(ALMS1):c.4914_4917del (p.Asn1638fs)
|
rs779366889
|
|
NM_001378454.1(ALMS1):c.4916A>C (p.Lys1639Thr)
|
|
|
NM_001378454.1(ALMS1):c.4916_4919del (p.Lys1639fs)
|
rs1439452693
|
|
NM_001378454.1(ALMS1):c.4920G>A (p.Glu1640=)
|
rs1572935943
|
|
NM_001378454.1(ALMS1):c.4922T>A (p.Val1641Asp)
|
|
|
NM_001378454.1(ALMS1):c.4923_4925del (p.Val1642del)
|
|
|
NM_001378454.1(ALMS1):c.4929A>G (p.Lys1643=)
|
rs1671937732
|
|
NM_001378454.1(ALMS1):c.492T>C (p.Ser164=)
|
rs1671237785
|
|
NM_001378454.1(ALMS1):c.4934C>A (p.Ser1645Ter)
|
rs774594040
|
|
NM_001378454.1(ALMS1):c.4936G>A (p.Ala1646Thr)
|
rs1461831032
|
|
NM_001378454.1(ALMS1):c.4939G>T (p.Ala1647Ser)
|
rs1671938334
|
|
NM_001378454.1(ALMS1):c.4940C>G (p.Ala1647Gly)
|
rs2103784552
|
|
NM_001378454.1(ALMS1):c.4941T>C (p.Ala1647=)
|
|
|
NM_001378454.1(ALMS1):c.4942C>T (p.Pro1648Ser)
|
|
|
NM_001378454.1(ALMS1):c.4944T>C (p.Pro1648=)
|
|
|
NM_001378454.1(ALMS1):c.4947A>G (p.Gly1649=)
|
|
|
NM_001378454.1(ALMS1):c.4952C>T (p.Ala1651Val)
|
|
|
NM_001378454.1(ALMS1):c.495C>T (p.Ser165=)
|
rs2103701334
|
|
NM_001378454.1(ALMS1):c.4960A>T (p.Lys1654Ter)
|
|
|
NM_001378454.1(ALMS1):c.496C>G (p.Gln166Glu)
|
rs2103701341
|
|
NM_001378454.1(ALMS1):c.496C>T (p.Gln166Ter)
|
|
|
NM_001378454.1(ALMS1):c.4971A>G (p.Thr1657=)
|
rs780637359
|
|
NM_001378454.1(ALMS1):c.4980A>G (p.Val1660=)
|
rs2103784707
|
|
NM_001378454.1(ALMS1):c.4982A>C (p.His1661Pro)
|
|
|
NM_001378454.1(ALMS1):c.4987A>C (p.Thr1663Pro)
|
|
|
NM_001378454.1(ALMS1):c.4989T>C (p.Thr1663=)
|
rs774538998
|
|
NM_001378454.1(ALMS1):c.4999A>T (p.Asn1667Tyr)
|
|
|
NM_001378454.1(ALMS1):c.4G>T (p.Glu2Ter)
|
|
|
NM_001378454.1(ALMS1):c.5001T>C (p.Asn1667=)
|
|
|
NM_001378454.1(ALMS1):c.5002A>G (p.Arg1668Gly)
|
rs2103784813
|
|
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs)
|
rs1572936092
|
|
NM_001378454.1(ALMS1):c.5004G>A (p.Arg1668=)
|
rs1432669722
|
|
NM_001378454.1(ALMS1):c.5004G>T (p.Arg1668Ser)
|
|
|
NM_001378454.1(ALMS1):c.5005G>A (p.Gly1669Arg)
|
|
|
NM_001378454.1(ALMS1):c.5007G>A (p.Gly1669=)
|
rs2103784845
|
|
NM_001378454.1(ALMS1):c.5010_5032del (p.Lys1670fs)
|
rs1553403989
|
|
NM_001378454.1(ALMS1):c.5016C>A (p.Val1672=)
|
rs2103784862
|
|
NM_001378454.1(ALMS1):c.501C>T (p.Thr167=)
|
|
|
NM_001378454.1(ALMS1):c.5021del (p.Phe1674fs)
|
|
|
NM_001378454.1(ALMS1):c.5025C>G (p.Tyr1675Ter)
|
|
|
NM_001378454.1(ALMS1):c.5025C>T (p.Tyr1675=)
|
rs2103784887
|
|
NM_001378454.1(ALMS1):c.5027A>G (p.Gln1676Arg)
|
|
|
NM_001378454.1(ALMS1):c.5034C>A (p.Thr1678=)
|
|
|
NM_001378454.1(ALMS1):c.5034C>T (p.Thr1678=)
|
|
|
NM_001378454.1(ALMS1):c.5035C>T (p.Leu1679=)
|
rs760829019
|
|
NM_001378454.1(ALMS1):c.5045G>C (p.Ser1682Thr)
|
|
|
NM_001378454.1(ALMS1):c.5051_5057del (p.His1683_Leu1684insTer)
|
rs1671941012
|
|
NM_001378454.1(ALMS1):c.5054C>T (p.Pro1685Leu)
|
|
|
NM_001378454.1(ALMS1):c.5056G>A (p.Glu1686Lys)
|
|
|
NM_001378454.1(ALMS1):c.5057A>G (p.Glu1686Gly)
|
rs947249342
|
|
NM_001378454.1(ALMS1):c.5058A>G (p.Glu1686=)
|
rs2103784966
|
|
NM_001378454.1(ALMS1):c.5075C>T (p.Pro1692Leu)
|
|
|
NM_001378454.1(ALMS1):c.507T>C (p.Asp169=)
|
|
|
NM_001378454.1(ALMS1):c.5087G>A (p.Gly1696Glu)
|
|
|
NM_001378454.1(ALMS1):c.5088A>C (p.Gly1696=)
|
rs2103785042
|
|
NM_001378454.1(ALMS1):c.5090C>T (p.Pro1697Leu)
|
rs2103785051
|
|
NM_001378454.1(ALMS1):c.5095G>A (p.Ala1699Thr)
|
rs1553404004
|
|
NM_001378454.1(ALMS1):c.5095G>T (p.Ala1699Ser)
|
rs1553404004
|
|
NM_001378454.1(ALMS1):c.5097C>G (p.Ala1699=)
|
rs1671942002
|
|
NM_001378454.1(ALMS1):c.50_51insAGAGGA (p.Glu27_Glu28dup)
|
rs1491245339
|
|
NM_001378454.1(ALMS1):c.510A>C (p.Thr170=)
|
rs2103701377
|
|
NM_001378454.1(ALMS1):c.5111C>T (p.Thr1704Ile)
|
rs755683870
|
|
NM_001378454.1(ALMS1):c.5114C>T (p.Pro1705Leu)
|
|
|
NM_001378454.1(ALMS1):c.5115A>G (p.Pro1705=)
|
rs2103785134
|
|
NM_001378454.1(ALMS1):c.5125T>G (p.Ser1709Ala)
|
|
|
NM_001378454.1(ALMS1):c.5127T>C (p.Ser1709=)
|
|
|
NM_001378454.1(ALMS1):c.5129G>C (p.Ser1710Thr)
|
rs1671942849
|
|
NM_001378454.1(ALMS1):c.5132T>G (p.Leu1711Ter)
|
|
|
NM_001378454.1(ALMS1):c.5133A>G (p.Leu1711=)
|
rs2103785199
|
|
NM_001378454.1(ALMS1):c.5136C>T (p.Tyr1712=)
|
|
|
NM_001378454.1(ALMS1):c.5139A>G (p.Ser1713=)
|
|
|
NM_001378454.1(ALMS1):c.513C>T (p.Ser171=)
|
|
|
NM_001378454.1(ALMS1):c.5140T>G (p.Tyr1714Asp)
|
|
|
NM_001378454.1(ALMS1):c.5142T>C (p.Tyr1714=)
|
rs772136379
|
|
NM_001378454.1(ALMS1):c.5143A>T (p.Arg1715Ter)
|
rs773513360
|
|
NM_001378454.1(ALMS1):c.5151G>A (p.Lys1717=)
|
|
|
NM_001378454.1(ALMS1):c.5160C>T (p.Val1720=)
|
|
|
NM_001378454.1(ALMS1):c.5164T>C (p.Tyr1722His)
|
|
|
NM_001378454.1(ALMS1):c.5165A>T (p.Tyr1722Phe)
|
|
|
NM_001378454.1(ALMS1):c.5166C>T (p.Tyr1722=)
|
|
|
NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs)
|
rs748709116
|
|
NM_001378454.1(ALMS1):c.5173G>A (p.Ala1725Thr)
|
rs763052163
|
|
NM_001378454.1(ALMS1):c.5176C>T (p.Leu1726=)
|
rs373864798
|
|
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs)
|
rs1553404020
|
|
NM_001378454.1(ALMS1):c.5178G>A (p.Leu1726=)
|
rs2103785373
|
|
NM_001378454.1(ALMS1):c.5178G>T (p.Leu1726=)
|
rs2103785373
|
|
NM_001378454.1(ALMS1):c.517A>G (p.Thr173Ala)
|
|
|
NM_001378454.1(ALMS1):c.5180C>T (p.Pro1727Leu)
|
|
|
NM_001378454.1(ALMS1):c.5181A>G (p.Pro1727=)
|
rs2103785406
|
|
NM_001378454.1(ALMS1):c.5182G>A (p.Asp1728Asn)
|
|
|
NM_001378454.1(ALMS1):c.5186G>T (p.Ser1729Ile)
|
rs2103785437
|
|
NM_001378454.1(ALMS1):c.5191C>G (p.Leu1731Val)
|
|
|
NM_001378454.1(ALMS1):c.5193A>G (p.Leu1731=)
|
|
|
NM_001378454.1(ALMS1):c.5196_5197del (p.Gln1733fs)
|
rs1553404028
|
|
NM_001378454.1(ALMS1):c.5197C>G (p.Gln1733Glu)
|
|
|
NM_001378454.1(ALMS1):c.5197C>T (p.Gln1733Ter)
|
rs750136202
|
|
NM_001378454.1(ALMS1):c.5198AAG[1] (p.Glu1734del)
|
rs1553404031
|
|
NM_001378454.1(ALMS1):c.5198_5199del (p.Gln1733fs)
|
|
|
NM_001378454.1(ALMS1):c.519T>C (p.Thr173=)
|
rs749270228
|
|
NM_001378454.1(ALMS1):c.519T>G (p.Thr173=)
|
rs749270228
|
|
NM_001378454.1(ALMS1):c.51G>A (p.Glu17=)
|
rs1553396127
|
|
NM_001378454.1(ALMS1):c.51_52insAAGGAG (p.Glu17_Glu18insLysGlu)
|
rs1553396125
|
|
NM_001378454.1(ALMS1):c.5203G>C (p.Ala1735Pro)
|
|
|
NM_001378454.1(ALMS1):c.5206C>T (p.Leu1736=)
|
|
|
NM_001378454.1(ALMS1):c.5208G>C (p.Leu1736=)
|
rs755418143
|
|
NM_001378454.1(ALMS1):c.5209A>G (p.Lys1737Glu)
|
rs2103785554
|
|
NM_001378454.1(ALMS1):c.5215del (p.Ser1739fs)
|
rs1195572987
|
|
NM_001378454.1(ALMS1):c.5216C>T (p.Ser1739Leu)
|
|
|
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu)
|
rs962844498
|
|
NM_001378454.1(ALMS1):c.5224C>G (p.Pro1742Ala)
|
|
|
NM_001378454.1(ALMS1):c.5226T>C (p.Pro1742=)
|
|
|
NM_001378454.1(ALMS1):c.5229A>G (p.Gln1743=)
|
|
|
NM_001378454.1(ALMS1):c.5232A>G (p.Pro1744=)
|
|
|
NM_001378454.1(ALMS1):c.5235T>C (p.Ala1745=)
|
|
|
NM_001378454.1(ALMS1):c.5239C>T (p.Gln1747Ter)
|
|
|
NM_001378454.1(ALMS1):c.5240A>T (p.Gln1747Leu)
|
rs1572936360
|
|
NM_001378454.1(ALMS1):c.5243A>G (p.Lys1748Arg)
|
|
|
NM_001378454.1(ALMS1):c.5247T>G (p.Thr1749=)
|
rs1271339315
|
|
NM_001378454.1(ALMS1):c.5251_5391del (p.Leu1751_Gly1797del)
|
rs2103785632
|
|
NM_001378454.1(ALMS1):c.5256T>A (p.Ser1752=)
|
rs2103785711
|
|
NM_001378454.1(ALMS1):c.5260dup (p.Val1754fs)
|
|
|
NM_001378454.1(ALMS1):c.5267C>T (p.Ser1756Phe)
|
|
|
NM_001378454.1(ALMS1):c.5273T>C (p.Phe1758Ser)
|
|
|
NM_001378454.1(ALMS1):c.5274C>A (p.Phe1758Leu)
|
rs2103785773
|
|
NM_001378454.1(ALMS1):c.5274del (p.Tyr1759fs)
|
rs2103785778
|
|
NM_001378454.1(ALMS1):c.5277T>G (p.Tyr1759Ter)
|
|
|
NM_001378454.1(ALMS1):c.5280A>G (p.Ser1760=)
|
rs1671947018
|
|
NM_001378454.1(ALMS1):c.5280del (p.His1761fs)
|
rs2103785835
|
|
NM_001378454.1(ALMS1):c.5284A>G (p.Thr1762Ala)
|
|
|
NM_001378454.1(ALMS1):c.528T>A (p.Asn176Lys)
|
|
|
NM_001378454.1(ALMS1):c.528T>C (p.Asn176=)
|
|
|
NM_001378454.1(ALMS1):c.5292G>A (p.Lys1764=)
|
rs1393538628
|
|
NM_001378454.1(ALMS1):c.5294C>G (p.Pro1765Arg)
|
rs1328622266
|
|
NM_001378454.1(ALMS1):c.5295T>C (p.Pro1765=)
|
rs1671947534
|
|
NM_001378454.1(ALMS1):c.5298T>C (p.Asn1766=)
|
rs1320062396
|
|
NM_001378454.1(ALMS1):c.5304T>C (p.Ser1768=)
|
rs753295349
|
|
NM_001378454.1(ALMS1):c.5307C>A (p.Tyr1769Ter)
|
rs758678450
|
|
NM_001378454.1(ALMS1):c.5307C>G (p.Tyr1769Ter)
|
|
|
NM_001378454.1(ALMS1):c.5307C>T (p.Tyr1769=)
|
|
|
NM_001378454.1(ALMS1):c.5309A>G (p.Gln1770Arg)
|
rs2103785989
|
|
NM_001378454.1(ALMS1):c.5310G>A (p.Gln1770=)
|
rs778267451
|
|
NM_001378454.1(ALMS1):c.5313A>G (p.Gln1771=)
|
|
|
NM_001378454.1(ALMS1):c.5314G>C (p.Glu1772Gln)
|
rs2103786011
|
|
NM_001378454.1(ALMS1):c.5317T>C (p.Leu1773=)
|
|
|
NM_001378454.1(ALMS1):c.5318T>A (p.Leu1773Ter)
|
rs2103786025
|
|
NM_001378454.1(ALMS1):c.531G>A (p.Val177=)
|
|
|
NM_001378454.1(ALMS1):c.5320C>T (p.Pro1774Ser)
|
rs2103786033
|
|
NM_001378454.1(ALMS1):c.5322A>G (p.Pro1774=)
|
|
|
NM_001378454.1(ALMS1):c.5327G>A (p.Ser1776Asn)
|
rs182614909
|
|
NM_001378454.1(ALMS1):c.532A>G (p.Arg178Gly)
|
rs2103701456
|
|
NM_001378454.1(ALMS1):c.5330A>G (p.His1777Arg)
|
|
|
NM_001378454.1(ALMS1):c.5331T>C (p.His1777=)
|
rs770037382
|
|
NM_001378454.1(ALMS1):c.5332C>T (p.Leu1778=)
|
rs559383661
|
|
NM_001378454.1(ALMS1):c.5340A>G (p.Glu1780=)
|
rs2103786116
|
|
NM_001378454.1(ALMS1):c.5345C>T (p.Ala1782Val)
|
|
|
NM_001378454.1(ALMS1):c.5350A>G (p.Lys1784Glu)
|
|
|
NM_001378454.1(ALMS1):c.5350A>T (p.Lys1784Ter)
|
|
|
NM_001378454.1(ALMS1):c.5361T>A (p.Asn1787Lys)
|
|
|
NM_001378454.1(ALMS1):c.5364T>C (p.Val1788=)
|
rs2103786225
|
|
NM_001378454.1(ALMS1):c.5365C>T (p.Pro1789Ser)
|
rs1479555928
|
|
NM_001378454.1(ALMS1):c.5368G>A (p.Gly1790Arg)
|
rs1060499580
|
|
NM_001378454.1(ALMS1):c.5369G>T (p.Gly1790Val)
|
|
|
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile)
|
rs1131691296
|
|
NM_001378454.1(ALMS1):c.5379C>T (p.Asp1793=)
|
|
|
NM_001378454.1(ALMS1):c.5381A>G (p.Gln1794Arg)
|
|
|
NM_001378454.1(ALMS1):c.5386A>G (p.Thr1796Ala)
|
|
|
NM_001378454.1(ALMS1):c.5388T>G (p.Thr1796=)
|
|
|
NM_001378454.1(ALMS1):c.538_541dup (p.Asp181fs)
|
|
|
NM_001378454.1(ALMS1):c.5390G>C (p.Gly1797Ala)
|
rs1225146552
|
|
NM_001378454.1(ALMS1):c.5391_5525del (p.Val1798_Gly1842del)
|
|
|
NM_001378454.1(ALMS1):c.5394A>G (p.Val1798=)
|
rs1269563462
|
|
NM_001378454.1(ALMS1):c.5396C>G (p.Ser1799Ter)
|
|
|
NM_001378454.1(ALMS1):c.539_542dup (p.Asp181fs)
|
|
|
NM_001378454.1(ALMS1):c.5401G>A (p.Val1801Ile)
|
|
|
NM_001378454.1(ALMS1):c.5402T>C (p.Val1801Ala)
|
|
|
NM_001378454.1(ALMS1):c.5413T>C (p.Ser1805Pro)
|
|
|
NM_001378454.1(ALMS1):c.5414C>T (p.Ser1805Phe)
|
rs2103786414
|
|
NM_001378454.1(ALMS1):c.5415C>G (p.Ser1805=)
|
|
|
NM_001378454.1(ALMS1):c.5415del (p.Tyr1806fs)
|
rs1553404066
|
|
NM_001378454.1(ALMS1):c.5417A>C (p.Tyr1806Ser)
|
|
|
NM_001378454.1(ALMS1):c.5417A>G (p.Tyr1806Cys)
|
rs374046216
|
|
NM_001378454.1(ALMS1):c.5422C>T (p.His1808Tyr)
|
rs1572936601
|
|
NM_001378454.1(ALMS1):c.5422_5425del (p.His1808fs)
|
rs1671951264
|
|
NM_001378454.1(ALMS1):c.542A>G (p.Asp181Gly)
|
|
|
NM_001378454.1(ALMS1):c.5430_5431del (p.Lys1811fs)
|
|
|
NM_001378454.1(ALMS1):c.5436C>T (p.Pro1812=)
|
rs2103786498
|
|
NM_001378454.1(ALMS1):c.543T>C (p.Asp181=)
|
|
|
NM_001378454.1(ALMS1):c.5440G>T (p.Val1814Phe)
|
|
|
NM_001378454.1(ALMS1):c.5441T>C (p.Val1814Ala)
|
rs2103786511
|
|
NM_001378454.1(ALMS1):c.5450A>G (p.Gln1817Arg)
|
|
|
NM_001378454.1(ALMS1):c.5451G>A (p.Gln1817=)
|
|
|
NM_001378454.1(ALMS1):c.5453G>A (p.Arg1818Gln)
|
rs200925575
|
|
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu)
|
rs200925575
|
|
NM_001378454.1(ALMS1):c.5454A>C (p.Arg1818=)
|
|
|
NM_001378454.1(ALMS1):c.5457G>A (p.Glu1819=)
|
rs886038613
|
|
NM_001378454.1(ALMS1):c.5462del (p.Pro1821fs)
|
rs770264966
|
|
NM_001378454.1(ALMS1):c.5464C>T (p.His1822Tyr)
|
|
|
NM_001378454.1(ALMS1):c.5478A>T (p.Ala1826=)
|
|
|
NM_001378454.1(ALMS1):c.547G>T (p.Glu183Ter)
|
rs1671239143
|
|
NM_001378454.1(ALMS1):c.5480G>C (p.Gly1827Ala)
|
|
|
NM_001378454.1(ALMS1):c.5482T>C (p.Leu1828=)
|
rs2103786711
|
|
NM_001378454.1(ALMS1):c.5484G>A (p.Leu1828=)
|
rs376996058
|
|
NM_001378454.1(ALMS1):c.5486A>C (p.Lys1829Thr)
|
|
|
NM_001378454.1(ALMS1):c.5488A>G (p.Ile1830Val)
|
|
|
NM_001378454.1(ALMS1):c.5488A>T (p.Ile1830Phe)
|
|
|
NM_001378454.1(ALMS1):c.5496A>G (p.Arg1832=)
|
rs1572936704
|
|
NM_001378454.1(ALMS1):c.5499T>A (p.Val1833=)
|
|
|
NM_001378454.1(ALMS1):c.5501del (p.Pro1834fs)
|
|
|
NM_001378454.1(ALMS1):c.5502T>C (p.Pro1834=)
|
|
|
NM_001378454.1(ALMS1):c.5510_5512del (p.Ala1837del)
|
rs2103786773
|
|
NM_001378454.1(ALMS1):c.5511T>C (p.Ala1837=)
|
|
|
NM_001378454.1(ALMS1):c.5514C>T (p.Asp1838=)
|
|
|
NM_001378454.1(ALMS1):c.5515C>G (p.Gln1839Glu)
|
rs1252756270
|
|
NM_001378454.1(ALMS1):c.5533A>G (p.Ile1845Val)
|
|
|
NM_001378454.1(ALMS1):c.5539C>A (p.Pro1847Thr)
|
rs752756030
|
|
NM_001378454.1(ALMS1):c.5539C>T (p.Pro1847Ser)
|
rs752756030
|
|
NM_001378454.1(ALMS1):c.5541C>G (p.Pro1847=)
|
rs1389209265
|
|
NM_001378454.1(ALMS1):c.5541C>T (p.Pro1847=)
|
|
|
NM_001378454.1(ALMS1):c.554_555del (p.Thr185fs)
|
|
|
NM_001378454.1(ALMS1):c.5553C>A (p.Tyr1851Ter)
|
|
|
NM_001378454.1(ALMS1):c.5556A>C (p.Pro1852=)
|
|
|
NM_001378454.1(ALMS1):c.5559G>A (p.Gln1853=)
|
rs886056303
|
|
NM_001378454.1(ALMS1):c.5560A>T (p.Arg1854Ter)
|
|
|
NM_001378454.1(ALMS1):c.5566C>T (p.His1856Tyr)
|
|
|
NM_001378454.1(ALMS1):c.5570C>G (p.Ser1857Cys)
|
rs375354717
|
|
NM_001378454.1(ALMS1):c.5571T>G (p.Ser1857=)
|
rs1268193702
|
|
NM_001378454.1(ALMS1):c.5571dup (p.Val1858fs)
|
|
|
NM_001378454.1(ALMS1):c.5574C>G (p.Val1858=)
|
rs770709146
|
|
NM_001378454.1(ALMS1):c.5574C>T (p.Val1858=)
|
rs770709146
|
|
NM_001378454.1(ALMS1):c.5582A>G (p.Tyr1861Cys)
|
rs556743491
|
|
NM_001378454.1(ALMS1):c.5583T>A (p.Tyr1861Ter)
|
|
|
NM_001378454.1(ALMS1):c.5583T>C (p.Tyr1861=)
|
|
|
NM_001378454.1(ALMS1):c.5587C>T (p.Gln1863Ter)
|
rs769440001
|
|
NM_001378454.1(ALMS1):c.5593T>C (p.Leu1865=)
|
rs775039046
|
|
NM_001378454.1(ALMS1):c.5595G>A (p.Leu1865=)
|
rs2103787065
|
|
NM_001378454.1(ALMS1):c.55G>A (p.Glu19Lys)
|
rs939208094
|
|
NM_001378454.1(ALMS1):c.55_56insCGG (p.Glu18_Glu19insAla)
|
|
|
NM_001378454.1(ALMS1):c.5600A>G (p.Asp1867Gly)
|
|
|
NM_001378454.1(ALMS1):c.5606_5612del (p.Thr1869fs)
|
|
|
NM_001378454.1(ALMS1):c.560dup (p.Ser189fs)
|
rs1439541639
|
|
NM_001378454.1(ALMS1):c.5612T>G (p.Val1871Gly)
|
|
|
NM_001378454.1(ALMS1):c.5620A>G (p.Lys1874Glu)
|
rs886038614
|
|
NM_001378454.1(ALMS1):c.5620A>T (p.Lys1874Ter)
|
|
|
NM_001378454.1(ALMS1):c.5622del (p.Ala1875fs)
|
rs1057517445
|
|
NM_001378454.1(ALMS1):c.5623G>A (p.Ala1875Thr)
|
rs768147561
|
|
NM_001378454.1(ALMS1):c.5627dup (p.Gly1877fs)
|
rs1553404109
|
|
NM_001378454.1(ALMS1):c.5640G>A (p.Gly1880=)
|
|
|
NM_001378454.1(ALMS1):c.5641C>T (p.Pro1881Ser)
|
|
|
NM_001378454.1(ALMS1):c.5645C>T (p.Ala1882Val)
|
|
|
NM_001378454.1(ALMS1):c.564C>A (p.Pro188=)
|
|
|
NM_001378454.1(ALMS1):c.564C>G (p.Pro188=)
|
|
|
NM_001378454.1(ALMS1):c.564del (p.Ser189fs)
|
|
|
NM_001378454.1(ALMS1):c.5653A>T (p.Lys1885Ter)
|
|
|
NM_001378454.1(ALMS1):c.5655G>A (p.Lys1885=)
|
rs2103787253
|
|
NM_001378454.1(ALMS1):c.5655_6063del (p.Lys1885_Thr1886insTer)
|
rs2103787249
|
|
NM_001378454.1(ALMS1):c.5658T>C (p.Thr1886=)
|
rs1019893311
|
|
NM_001378454.1(ALMS1):c.5661G>A (p.Gly1887=)
|
|
|
NM_001378454.1(ALMS1):c.566C>T (p.Ser189Phe)
|
|
|
NM_001378454.1(ALMS1):c.5673A>C (p.Ala1891=)
|
rs1572936907
|
|
NM_001378454.1(ALMS1):c.5673A>T (p.Ala1891=)
|
rs1572936907
|
|
NM_001378454.1(ALMS1):c.5676C>A (p.Ser1892=)
|
|
|
NM_001378454.1(ALMS1):c.5681G>T (p.Ser1894Ile)
|
|
|
NM_001378454.1(ALMS1):c.5684C>G (p.Ser1895Cys)
|
rs2103787360
|
|
NM_001378454.1(ALMS1):c.5687A>G (p.Tyr1896Cys)
|
|
|
NM_001378454.1(ALMS1):c.5690C>T (p.Ser1897Leu)
|
|
|
NM_001378454.1(ALMS1):c.5694T>C (p.Asn1898=)
|
rs1317035563
|
|
NM_001378454.1(ALMS1):c.5698G>A (p.Glu1900Lys)
|
|
|
NM_001378454.1(ALMS1):c.5698_5701del (p.Glu1900fs)
|
rs1558650438
|
|
NM_001378454.1(ALMS1):c.5704G>A (p.Ala1902Thr)
|
rs1254278225
|
|
NM_001378454.1(ALMS1):c.5706C>G (p.Ala1902=)
|
|
|
NM_001378454.1(ALMS1):c.5706del (p.Ser1903fs)
|
|
|
NM_001378454.1(ALMS1):c.5709T>C (p.Ser1903=)
|
|
|
NM_001378454.1(ALMS1):c.5712T>A (p.Ile1904=)
|
|
|
NM_001378454.1(ALMS1):c.5714T>G (p.Phe1905Cys)
|
rs1553404125
|
|
NM_001378454.1(ALMS1):c.5715T>C (p.Phe1905=)
|
rs1386434113
|
|
NM_001378454.1(ALMS1):c.571G>T (p.Glu191Ter)
|
rs765553310
|
|
NM_001378454.1(ALMS1):c.5720A>G (p.Gln1907Arg)
|
|
|
NM_001378454.1(ALMS1):c.5722C>T (p.Gln1908Ter)
|
|
|
NM_001378454.1(ALMS1):c.5726del (p.Glu1909fs)
|
rs1572936972
|
|
NM_001378454.1(ALMS1):c.5732C>T (p.Pro1911Leu)
|
rs1671960359
|
|
NM_001378454.1(ALMS1):c.5732del (p.Pro1911fs)
|
rs763048583
|
|
NM_001378454.1(ALMS1):c.5733A>G (p.Pro1911=)
|
|
|
NM_001378454.1(ALMS1):c.5741C>T (p.Thr1914Ile)
|
|
|
NM_001378454.1(ALMS1):c.5742T>A (p.Thr1914=)
|
rs2103787524
|
|
NM_001378454.1(ALMS1):c.5742T>C (p.Thr1914=)
|
|
|
NM_001378454.1(ALMS1):c.5746G>T (p.Glu1916Ter)
|
|
|
NM_001378454.1(ALMS1):c.574G>A (p.Glu192Lys)
|
|
|
NM_001378454.1(ALMS1):c.5750_5753del (p.Ala1917fs)
|
rs2103787540
|
|
NM_001378454.1(ALMS1):c.5752T>C (p.Leu1918=)
|
|
|
NM_001378454.1(ALMS1):c.5757T>C (p.Asn1919=)
|
|
|
NM_001378454.1(ALMS1):c.5764G>T (p.Val1922Phe)
|
|
|
NM_001378454.1(ALMS1):c.5767G>A (p.Val1923Ile)
|
rs772665115
|
|
NM_001378454.1(ALMS1):c.5771C>G (p.Pro1924Arg)
|
|
|
NM_001378454.1(ALMS1):c.5780G>A (p.Gly1927Asp)
|
rs886056304
|
|
NM_001378454.1(ALMS1):c.5785C>T (p.Arg1929Trp)
|
rs938557636
|
|
NM_001378454.1(ALMS1):c.5787G>A (p.Arg1929=)
|
rs2103787695
|
|
NM_001378454.1(ALMS1):c.5787del (p.Lys1930fs)
|
|
|
NM_001378454.1(ALMS1):c.5790G>A (p.Lys1930=)
|
|
|
NM_001378454.1(ALMS1):c.57G>A (p.Glu19=)
|
rs866503570
|
|
NM_001378454.1(ALMS1):c.57_58insTAGGAG (p.Glu20Ter)
|
rs1574423697
|
|
NM_001378454.1(ALMS1):c.5800C>T (p.Pro1934Ser)
|
|
|
NM_001378454.1(ALMS1):c.5801C>T (p.Pro1934Leu)
|
|
|
NM_001378454.1(ALMS1):c.5806G>A (p.Val1936Ile)
|
|
|
NM_001378454.1(ALMS1):c.5808A>G (p.Val1936=)
|
rs2103787767
|
|
NM_001378454.1(ALMS1):c.5809C>G (p.Pro1937Ala)
|
|
|
NM_001378454.1(ALMS1):c.5811T>C (p.Pro1937=)
|
|
|
NM_001378454.1(ALMS1):c.5812T>C (p.Leu1938=)
|
|
|
NM_001378454.1(ALMS1):c.5814A>C (p.Leu1938Phe)
|
rs1432463036
|
|
NM_001378454.1(ALMS1):c.5815A>G (p.Ser1939Gly)
|
|
|
NM_001378454.1(ALMS1):c.5818T>G (p.Tyr1940Asp)
|
|
|
NM_001378454.1(ALMS1):c.5819A>C (p.Tyr1940Ser)
|
|
|
NM_001378454.1(ALMS1):c.5820C>T (p.Tyr1940=)
|
rs2103787800
|
|
NM_001378454.1(ALMS1):c.5821dup (p.Tyr1941fs)
|
rs2103787808
|
|
NM_001378454.1(ALMS1):c.5822A>G (p.Tyr1941Cys)
|
rs374676136
|
|
NM_001378454.1(ALMS1):c.5823C>T (p.Tyr1941=)
|
rs1174994694
|
|
NM_001378454.1(ALMS1):c.5825C>G (p.Ser1942Ter)
|
|
|
NM_001378454.1(ALMS1):c.5826A>T (p.Ser1942=)
|
|
|
NM_001378454.1(ALMS1):c.5826dup (p.Arg1943fs)
|
|
|
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.5830A>G (p.Arg1944Gly)
|
|
|
NM_001378454.1(ALMS1):c.5830A>T (p.Arg1944Ter)
|
|
|
NM_001378454.1(ALMS1):c.5831G>A (p.Arg1944Lys)
|
rs2103787852
|
|
NM_001378454.1(ALMS1):c.5838G>A (p.Lys1946=)
|
|
|
NM_001378454.1(ALMS1):c.583T>C (p.Leu195=)
|
rs777906149
|
|
NM_001378454.1(ALMS1):c.5841C>G (p.Pro1947=)
|
|
|
NM_001378454.1(ALMS1):c.5841C>T (p.Pro1947=)
|
rs1558650547
|
|
NM_001378454.1(ALMS1):c.5843G>T (p.Ser1948Ile)
|
rs1300252739
|
|
NM_001378454.1(ALMS1):c.5848A>G (p.Ile1950Val)
|
rs140062566
|
|
NM_001378454.1(ALMS1):c.5853_5854del (p.Gln1952fs)
|
rs2103787916
|
|
NM_001378454.1(ALMS1):c.5854C>T (p.Gln1952Ter)
|
|
|
NM_001378454.1(ALMS1):c.5860del (p.Glu1954fs)
|
rs1553404150
|
|
NM_001378454.1(ALMS1):c.5867C>A (p.Pro1956Gln)
|
rs1671963819
|
|
NM_001378454.1(ALMS1):c.5868A>G (p.Pro1956=)
|
|
|
NM_001378454.1(ALMS1):c.586del (p.Thr196fs)
|
rs2103701730
|
|
NM_001378454.1(ALMS1):c.5870A>G (p.Asp1957Gly)
|
rs1464393698
|
|
NM_001378454.1(ALMS1):c.5871C>T (p.Asp1957=)
|
rs747535416
|
|
NM_001378454.1(ALMS1):c.5877T>A (p.His1959Gln)
|
|
|
NM_001378454.1(ALMS1):c.5881A>T (p.Thr1961Ser)
|
rs1249655262
|
|
NM_001378454.1(ALMS1):c.5886del (p.Glu1963fs)
|
rs1553404156
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NM_001378454.1(ALMS1):c.5887G>T (p.Glu1963Ter)
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NM_001378454.1(ALMS1):c.5889G>A (p.Glu1963=)
|
rs2103788040
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NM_001378454.1(ALMS1):c.5894T>G (p.Leu1965Arg)
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NM_001378454.1(ALMS1):c.5896A>T (p.Lys1966Ter)
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NM_001378454.1(ALMS1):c.589C>T (p.Gln197Ter)
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rs1671240457
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NM_001378454.1(ALMS1):c.58G>A (p.Glu20Lys)
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NM_001378454.1(ALMS1):c.5902dup (p.Ser1968fs)
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NM_001378454.1(ALMS1):c.5903C>A (p.Ser1968Ter)
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NM_001378454.1(ALMS1):c.5904A>C (p.Ser1968=)
|
rs1050193710
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NM_001378454.1(ALMS1):c.5904A>G (p.Ser1968=)
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NM_001378454.1(ALMS1):c.5904_5912del (p.Pro1969_Ser1971del)
|
rs1060500042
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NM_001378454.1(ALMS1):c.5912C>A (p.Ser1971Tyr)
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NM_001378454.1(ALMS1):c.5913T>C (p.Ser1971=)
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NM_001378454.1(ALMS1):c.5915del (p.Ile1972fs)
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NM_001378454.1(ALMS1):c.5917C>T (p.Pro1973Ser)
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NM_001378454.1(ALMS1):c.5919A>G (p.Pro1973=)
|
rs755966607
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NM_001378454.1(ALMS1):c.591A>C (p.Gln197His)
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NM_001378454.1(ALMS1):c.5922A>G (p.Ala1974=)
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NM_001378454.1(ALMS1):c.5923del (p.Glu1975fs)
|
rs398122994
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NM_001378454.1(ALMS1):c.5925G>A (p.Glu1975=)
|
rs2103788193
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NM_001378454.1(ALMS1):c.5926C>T (p.Gln1976Ter)
|
rs533606326
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NM_001378454.1(ALMS1):c.5929A>T (p.Lys1977Ter)
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NM_001378454.1(ALMS1):c.5931G>C (p.Lys1977Asn)
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rs886056305
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NM_001378454.1(ALMS1):c.5931G>T (p.Lys1977Asn)
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NM_001378454.1(ALMS1):c.5933C>G (p.Thr1978Ser)
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NM_001378454.1(ALMS1):c.5935G>A (p.Gly1979Arg)
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rs1671966142
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NM_001378454.1(ALMS1):c.5944A>G (p.Ile1982Val)
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NM_001378454.1(ALMS1):c.5951dup (p.Ser1985fs)
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NM_001378454.1(ALMS1):c.5952G>A (p.Leu1984=)
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NM_001378454.1(ALMS1):c.5952G>T (p.Leu1984=)
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rs2103788277
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NM_001378454.1(ALMS1):c.5952_5954del (p.Ser1987del)
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NM_001378454.1(ALMS1):c.5955T>C (p.Ser1985=)
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rs2103788292
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NM_001378454.1(ALMS1):c.5956_5957delinsGT (p.Ser1986Val)
|
rs2103788302
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NM_001378454.1(ALMS1):c.595G>T (p.Glu199Ter)
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NM_001378454.1(ALMS1):c.5963A>G (p.Tyr1988Cys)
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rs757977017
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NM_001378454.1(ALMS1):c.5964C>A (p.Tyr1988Ter)
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NM_001378454.1(ALMS1):c.5964C>T (p.Tyr1988=)
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rs2103788334
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NM_001378454.1(ALMS1):c.5966C>A (p.Ser1989Ter)
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rs777080769
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NM_001378454.1(ALMS1):c.5967A>G (p.Ser1989=)
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NM_001378454.1(ALMS1):c.5968C>T (p.His1990Tyr)
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NM_001378454.1(ALMS1):c.596A>G (p.Glu199Gly)
|
rs1553399974
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NM_001378454.1(ALMS1):c.5973A>G (p.Ser1991=)
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NM_001378454.1(ALMS1):c.5976T>G (p.His1992Gln)
|
rs2103788393
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NM_001378454.1(ALMS1):c.5977A>T (p.Lys1993Ter)
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NM_001378454.1(ALMS1):c.5978_5979del (p.Lys1993fs)
|
rs1553404180
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NM_001378454.1(ALMS1):c.5979A>G (p.Lys1993=)
|
rs2103788409
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NM_001378454.1(ALMS1):c.5988C>G (p.Leu1996=)
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NM_001378454.1(ALMS1):c.5994T>A (p.Ile1998=)
|
rs774242715
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NM_001378454.1(ALMS1):c.6000T>C (p.Thr2000=)
|
rs2103788462
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NM_001378454.1(ALMS1):c.6003G>T (p.Val2001=)
|
rs765190182
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NM_001378454.1(ALMS1):c.6004_6090dup (p.His2002_Val2030dup)
|
rs2103788416
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NM_001378454.1(ALMS1):c.6008T>C (p.Ile2003Thr)
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NM_001378454.1(ALMS1):c.6009A>G (p.Ile2003Met)
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NM_001378454.1(ALMS1):c.6014A>G (p.Asp2005Gly)
|
rs886056306
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NM_001378454.1(ALMS1):c.6016G>A (p.Asp2006Asn)
|
rs1671968768
|
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NM_001378454.1(ALMS1):c.6024A>C (p.Lys2008Asn)
|
rs1671969063
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NM_001378454.1(ALMS1):c.6025A>T (p.Thr2009Ser)
|
rs2103788606
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NM_001378454.1(ALMS1):c.6035C>G (p.Pro2012Arg)
|
rs750993966
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NM_001378454.1(ALMS1):c.6035C>T (p.Pro2012Leu)
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NM_001378454.1(ALMS1):c.6041C>T (p.Ala2014Val)
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NM_001378454.1(ALMS1):c.6042T>C (p.Ala2014=)
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NM_001378454.1(ALMS1):c.6045C>A (p.Thr2015=)
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NM_001378454.1(ALMS1):c.6054C>G (p.Ser2018=)
|
rs2103788731
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NM_001378454.1(ALMS1):c.6056A>G (p.Tyr2019Cys)
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|
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NM_001378454.1(ALMS1):c.605_610del (p.Val202_Lys203del)
|
rs1553399981
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NM_001378454.1(ALMS1):c.6061C>T (p.Gln2021Ter)
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|
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NM_001378454.1(ALMS1):c.6066A>G (p.Ile2022Met)
|
rs780333829
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NM_001378454.1(ALMS1):c.6068A>G (p.Glu2023Gly)
|
rs376120513
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NM_001378454.1(ALMS1):c.6070A>G (p.Lys2024Glu)
|
rs886056307
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NM_001378454.1(ALMS1):c.6070A>T (p.Lys2024Ter)
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|
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NM_001378454.1(ALMS1):c.6075C>A (p.Pro2025=)
|
rs2103788790
|
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NM_001378454.1(ALMS1):c.6085A>T (p.Thr2029Ser)
|
rs759478895
|
|
NM_001378454.1(ALMS1):c.608A>G (p.Lys203Arg)
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|
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NM_001378454.1(ALMS1):c.6090G>A (p.Val2030=)
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|
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NM_001378454.1(ALMS1):c.6093T>G (p.Ile2031Met)
|
rs2103788896
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NM_001378454.1(ALMS1):c.6094G>A (p.Gly2032Arg)
|
rs1671971419
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NM_001378454.1(ALMS1):c.6094G>T (p.Gly2032Ter)
|
rs1671971419
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NM_001378454.1(ALMS1):c.6099A>G (p.Pro2033=)
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|
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NM_001378454.1(ALMS1):c.60_61insAAGGAG (p.Glu20_Glu21insLysGlu)
|
rs2104057268
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NM_001378454.1(ALMS1):c.60_61insCAG (p.Glu20_Glu21insGln)
|
rs1553396137
|
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NM_001378454.1(ALMS1):c.6100A>G (p.Asn2034Asp)
|
rs1206923047
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NM_001378454.1(ALMS1):c.6107A>G (p.Gln2036Arg)
|
|
|
NM_001378454.1(ALMS1):c.6111G>T (p.Lys2037Asn)
|
|
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NM_001378454.1(ALMS1):c.6112A>T (p.Thr2038Ser)
|
rs369011755
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NM_001378454.1(ALMS1):c.6117A>G (p.Pro2039=)
|
rs2103788937
|
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NM_001378454.1(ALMS1):c.6120C>G (p.Ser2040=)
|
|
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NM_001378454.1(ALMS1):c.6121del (p.Gln2041fs)
|
rs1671971721
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NM_001378454.1(ALMS1):c.6123G>C (p.Gln2041His)
|
|
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NM_001378454.1(ALMS1):c.6125C>T (p.Thr2042Ile)
|
|
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NM_001378454.1(ALMS1):c.6134A>G (p.His2045Arg)
|
|
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NM_001378454.1(ALMS1):c.6139T>A (p.Ser2047Thr)
|
rs886056308
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NM_001378454.1(ALMS1):c.6143A>C (p.Tyr2048Ser)
|
rs201162418
|
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NM_001378454.1(ALMS1):c.6147T>C (p.Ser2049=)
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|
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NM_001378454.1(ALMS1):c.6151A>G (p.Thr2051Ala)
|
rs2103789073
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NM_001378454.1(ALMS1):c.6152C>T (p.Thr2051Ile)
|
|
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NM_001378454.1(ALMS1):c.6153A>G (p.Thr2051=)
|
rs1671972805
|
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NM_001378454.1(ALMS1):c.6156A>C (p.Val2052=)
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|
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NM_001378454.1(ALMS1):c.6156A>G (p.Val2052=)
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NM_001378454.1(ALMS1):c.6158A>T (p.Lys2053Met)
|
|
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NM_001378454.1(ALMS1):c.615C>G (p.Pro205=)
|
rs2103701886
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NM_001378454.1(ALMS1):c.6161C>G (p.Pro2054Arg)
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|
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NM_001378454.1(ALMS1):c.6163_6164dup (p.Asn2055fs)
|
rs2103789120
|
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NM_001378454.1(ALMS1):c.6164A>G (p.Asn2055Ser)
|
|
|
NM_001378454.1(ALMS1):c.6164A>T (p.Asn2055Ile)
|
rs772187394
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NM_001378454.1(ALMS1):c.6166_6167dup (p.Leu2057fs)
|
rs759603306
|
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NM_001378454.1(ALMS1):c.6168T>G (p.Ile2056Met)
|
rs775610057
|
|
NM_001378454.1(ALMS1):c.6171A>T (p.Leu2057Phe)
|
rs2103789184
|
|
NM_001378454.1(ALMS1):c.6175C>T (p.Gln2059Ter)
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|
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NM_001378454.1(ALMS1):c.6180G>A (p.Gln2060=)
|
rs2103789211
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NM_001378454.1(ALMS1):c.6182A>T (p.Gln2061Leu)
|
|
|
NM_001378454.1(ALMS1):c.6183G>A (p.Gln2061=)
|
rs200041852
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NM_001378454.1(ALMS1):c.6183G>T (p.Gln2061His)
|
|
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NM_001378454.1(ALMS1):c.6189A>G (p.Pro2063=)
|
|
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NM_001378454.1(ALMS1):c.6192T>A (p.Asp2064Glu)
|
|
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NM_001378454.1(ALMS1):c.6192T>C (p.Asp2064=)
|
rs1357962379
|
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NM_001378454.1(ALMS1):c.6194G>A (p.Arg2065Lys)
|
rs2103789247
|
|
NM_001378454.1(ALMS1):c.61del (p.Glu21fs)
|
rs753006733
|
|
NM_001378454.1(ALMS1):c.6204_6208del (p.Ser2068fs)
|
rs1671974033
|
|
NM_001378454.1(ALMS1):c.6205A>T (p.Lys2069Ter)
|
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NM_001378454.1(ALMS1):c.6209G>T (p.Gly2070Val)
|
|
|
NM_001378454.1(ALMS1):c.6211A>G (p.Ile2071Val)
|
rs1020163869
|
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NM_001378454.1(ALMS1):c.6213T>C (p.Ile2071=)
|
rs1671974435
|
|
NM_001378454.1(ALMS1):c.6215T>C (p.Leu2072Pro)
|
rs1382952433
|
|
NM_001378454.1(ALMS1):c.6216A>C (p.Leu2072=)
|
|
|
NM_001378454.1(ALMS1):c.6216A>G (p.Leu2072=)
|
rs754288227
|
|
NM_001378454.1(ALMS1):c.6221T>G (p.Ile2074Ser)
|
|
|
NM_001378454.1(ALMS1):c.6226G>T (p.Ala2076Ser)
|
|
|
NM_001378454.1(ALMS1):c.6229G>C (p.Val2077Leu)
|
rs779402813
|
|
NM_001378454.1(ALMS1):c.622_623del (p.Asp208fs)
|
|
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NM_001378454.1(ALMS1):c.6231C>T (p.Val2077=)
|
rs748449043
|
|
NM_001378454.1(ALMS1):c.6232C>T (p.Pro2078Ser)
|
rs1050140750
|
|
NM_001378454.1(ALMS1):c.6235G>A (p.Glu2079Lys)
|
rs758696535
|
|
NM_001378454.1(ALMS1):c.6237A>G (p.Glu2079=)
|
|
|
NM_001378454.1(ALMS1):c.6238C>G (p.Leu2080Val)
|
|
|
NM_001378454.1(ALMS1):c.624T>A (p.Asp208Glu)
|
rs1671241779
|
|
NM_001378454.1(ALMS1):c.6254C>T (p.Thr2085Ile)
|
rs1266867585
|
|
NM_001378454.1(ALMS1):c.6261A>G (p.Lys2087=)
|
rs2103789480
|
|
NM_001378454.1(ALMS1):c.6263del (p.Pro2088fs)
|
|
|
NM_001378454.1(ALMS1):c.6264A>T (p.Pro2088=)
|
|
|
NM_001378454.1(ALMS1):c.6267A>G (p.Val2089=)
|
rs1357847945
|
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NM_001378454.1(ALMS1):c.6269del (p.Ser2090fs)
|
rs1572937636
|
|
NM_001378454.1(ALMS1):c.6275C>G (p.Ser2092Cys)
|
rs749180234
|
|
NM_001378454.1(ALMS1):c.6277A>G (p.Ser2093Gly)
|
rs2103789537
|
|
NM_001378454.1(ALMS1):c.6279T>C (p.Ser2093=)
|
rs1572937640
|
|
NM_001378454.1(ALMS1):c.627C>T (p.Leu209=)
|
|
|
NM_001378454.1(ALMS1):c.6291C>T (p.His2097=)
|
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NM_001378454.1(ALMS1):c.6292A>G (p.Arg2098Gly)
|
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|
NM_001378454.1(ALMS1):c.6296_6301del (p.Glu2099_Ser2101delinsAla)
|
|
|
NM_001378454.1(ALMS1):c.6300A>G (p.Lys2100=)
|
|
|
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.6303G>T (p.Ser2101=)
|
|
|
NM_001378454.1(ALMS1):c.6304A>C (p.Asn2102His)
|
rs1386959032
|
|
NM_001378454.1(ALMS1):c.6308_6318del (p.Ile2103fs)
|
|
|
NM_001378454.1(ALMS1):c.6317C>T (p.Pro2106Leu)
|
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|
NM_001378454.1(ALMS1):c.6319C>T (p.Gln2107Ter)
|
|
|
NM_001378454.1(ALMS1):c.6320A>G (p.Gln2107Arg)
|
|
|
NM_001378454.1(ALMS1):c.6323A>G (p.Glu2108Gly)
|
|
|
NM_001378454.1(ALMS1):c.6327G>A (p.Leu2109=)
|
|
|
NM_001378454.1(ALMS1):c.6328C>T (p.Pro2110Ser)
|
rs1243321319
|
|
NM_001378454.1(ALMS1):c.632G>C (p.Cys211Ser)
|
|
|
NM_001378454.1(ALMS1):c.6336T>C (p.Ser2112=)
|
|
|
NM_001378454.1(ALMS1):c.633T>C (p.Cys211=)
|
rs2103701981
|
|
NM_001378454.1(ALMS1):c.6343dup (p.Thr2115fs)
|
|
|
NM_001378454.1(ALMS1):c.6354G>C (p.Val2118=)
|
|
|
NM_001378454.1(ALMS1):c.6355C>T (p.Leu2119=)
|
|
|
NM_001378454.1(ALMS1):c.635C>T (p.Ser212Phe)
|
rs2103701987
|
|
NM_001378454.1(ALMS1):c.6360G>A (p.Lys2120=)
|
rs1671978064
|
|
NM_001378454.1(ALMS1):c.6361G>T (p.Val2121Phe)
|
|
|
NM_001378454.1(ALMS1):c.636T>C (p.Ser212=)
|
|
|
NM_001378454.1(ALMS1):c.6372del (p.Pro2125fs)
|
rs1553404220
|
|
NM_001378454.1(ALMS1):c.6378A>G (p.Gly2126=)
|
rs2103789892
|
|
NM_001378454.1(ALMS1):c.6378A>T (p.Gly2126=)
|
rs2103789892
|
|
NM_001378454.1(ALMS1):c.6380C>T (p.Pro2127Leu)
|
rs2103789910
|
|
NM_001378454.1(ALMS1):c.6381A>G (p.Pro2127=)
|
rs1671978462
|
|
NM_001378454.1(ALMS1):c.638dup (p.Leu214fs)
|
rs2103701996
|
|
NM_001378454.1(ALMS1):c.6396A>G (p.Thr2132=)
|
|
|
NM_001378454.1(ALMS1):c.6397G>T (p.Val2133Leu)
|
|
|
NM_001378454.1(ALMS1):c.6399A>T (p.Val2133=)
|
|
|
NM_001378454.1(ALMS1):c.639A>G (p.Pro213=)
|
rs1370245923
|
|
NM_001378454.1(ALMS1):c.639A>T (p.Pro213=)
|
rs1370245923
|
|
NM_001378454.1(ALMS1):c.63G>A (p.Glu21=)
|
rs1004961829
|
|
NM_001378454.1(ALMS1):c.63_64insAAG (p.Glu21_Glu22insLys)
|
rs905301935
|
|
NM_001378454.1(ALMS1):c.6405A>G (p.Pro2135=)
|
rs2103789974
|
|
NM_001378454.1(ALMS1):c.6406_6408dup (p.Thr2136_Ala2137insThr)
|
|
|
NM_001378454.1(ALMS1):c.6408_6409insCCTA (p.Ala2137fs)
|
rs1553404233
|
|
NM_001378454.1(ALMS1):c.6409G>C (p.Ala2137Pro)
|
rs2103789992
|
|
NM_001378454.1(ALMS1):c.640C>T (p.Leu214=)
|
|
|
NM_001378454.1(ALMS1):c.6419G>C (p.Ser2140Thr)
|
rs1671979572
|
|
NM_001378454.1(ALMS1):c.6422C>T (p.Ser2141Phe)
|
|
|
NM_001378454.1(ALMS1):c.6423C>G (p.Ser2141=)
|
|
|
NM_001378454.1(ALMS1):c.6429A>G (p.Ser2143=)
|
rs1165256588
|
|
NM_001378454.1(ALMS1):c.6433C>A (p.Arg2145=)
|
rs770558150
|
|
NM_001378454.1(ALMS1):c.6433C>G (p.Arg2145Gly)
|
|
|
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter)
|
rs770558150
|
|
NM_001378454.1(ALMS1):c.6447T>C (p.Asp2149=)
|
rs765803796
|
|
NM_001378454.1(ALMS1):c.6448A>G (p.Ile2150Val)
|
|
|
NM_001378454.1(ALMS1):c.6455A>G (p.Tyr2152Cys)
|
|
|
NM_001378454.1(ALMS1):c.6455A>T (p.Tyr2152Phe)
|
|
|
NM_001378454.1(ALMS1):c.645A>G (p.Leu215=)
|
|
|
NM_001378454.1(ALMS1):c.646+10G>A
|
rs1553399998
|
|
NM_001378454.1(ALMS1):c.646+11T>C
|
|
|
NM_001378454.1(ALMS1):c.646+13T>C
|
|
|
NM_001378454.1(ALMS1):c.646+20A>G
|
|
|
NM_001378454.1(ALMS1):c.646+2T>A
|
rs1572911143
|
|
NM_001378454.1(ALMS1):c.646+2T>C
|
rs1572911143
|
|
NM_001378454.1(ALMS1):c.646+3A>G
|
rs1553399994
|
|
NM_001378454.1(ALMS1):c.646+4A>T
|
rs1270489328
|
|
NM_001378454.1(ALMS1):c.646+5T>C
|
rs1235104737
|
|
NM_001378454.1(ALMS1):c.646+7C>G
|
|
|
NM_001378454.1(ALMS1):c.646+8C>T
|
rs760012033
|
|
NM_001378454.1(ALMS1):c.6462G>A (p.Lys2154=)
|
|
|
NM_001378454.1(ALMS1):c.6467T>A (p.Leu2156Ter)
|
rs2103790206
|
|
NM_001378454.1(ALMS1):c.647-11A>C
|
|
|
NM_001378454.1(ALMS1):c.647-14T>G
|
|
|
NM_001378454.1(ALMS1):c.647-19_647-18insT
|
rs1553400422
|
|
NM_001378454.1(ALMS1):c.647-2A>T
|
rs1671310097
|
|
NM_001378454.1(ALMS1):c.647-3C>T
|
rs1671310064
|
|
NM_001378454.1(ALMS1):c.647-4A>G
|
rs1553400427
|
|
NM_001378454.1(ALMS1):c.647-8C>T
|
|
|
NM_001378454.1(ALMS1):c.6472G>A (p.Asp2158Asn)
|
rs545636120
|
|
NM_001378454.1(ALMS1):c.6474T>C (p.Asp2158=)
|
rs2103790221
|
|
NM_001378454.1(ALMS1):c.6477A>G (p.Arg2159=)
|
|
|
NM_001378454.1(ALMS1):c.6479A>G (p.His2160Arg)
|
rs781245006
|
|
NM_001378454.1(ALMS1):c.6479del (p.His2160fs)
|
|
|
NM_001378454.1(ALMS1):c.6481C>T (p.Leu2161=)
|
rs2103790282
|
|
NM_001378454.1(ALMS1):c.6483_6486del (p.Thr2162fs)
|
rs1553404252
|
|
NM_001378454.1(ALMS1):c.6487G>T (p.Glu2163Ter)
|
|
|
NM_001378454.1(ALMS1):c.6498A>G (p.Leu2166=)
|
|
|
NM_001378454.1(ALMS1):c.64_65insTGG (p.Glu21_Glu22insVal)
|
rs1553396144
|
|
NM_001378454.1(ALMS1):c.6502A>G (p.Ile2168Val)
|
|
|
NM_001378454.1(ALMS1):c.6504C>A (p.Ile2168=)
|
|
|
NM_001378454.1(ALMS1):c.650T>C (p.Ile217Thr)
|
|
|
NM_001378454.1(ALMS1):c.6513T>C (p.Ala2171=)
|
rs1671982281
|
|
NM_001378454.1(ALMS1):c.6514C>T (p.Leu2172Phe)
|
|
|
NM_001378454.1(ALMS1):c.6519G>A (p.Gly2173=)
|
rs2103790429
|
|
NM_001378454.1(ALMS1):c.6523G>A (p.Ala2175Thr)
|
rs1572937937
|
|
NM_001378454.1(ALMS1):c.6524C>T (p.Ala2175Val)
|
rs549259627
|
|
NM_001378454.1(ALMS1):c.6525T>G (p.Ala2175=)
|
|
|
NM_001378454.1(ALMS1):c.6528dup (p.Gln2177fs)
|
rs2103790479
|
|
NM_001378454.1(ALMS1):c.6534T>C (p.Ile2178=)
|
|
|
NM_001378454.1(ALMS1):c.6535A>G (p.Thr2179Ala)
|
rs907136479
|
|
NM_001378454.1(ALMS1):c.6538G>C (p.Gly2180Arg)
|
rs145953016
|
|
NM_001378454.1(ALMS1):c.6538G>T (p.Gly2180Ter)
|
|
|
NM_001378454.1(ALMS1):c.653A>G (p.Gln218Arg)
|
|
|
NM_001378454.1(ALMS1):c.6541T>C (p.Leu2181=)
|
|
|
NM_001378454.1(ALMS1):c.6543A>G (p.Leu2181=)
|
rs1553404267
|
|
NM_001378454.1(ALMS1):c.654A>G (p.Gln218=)
|
rs546669517
|
|
NM_001378454.1(ALMS1):c.6550G>A (p.Val2184Ile)
|
|
|
NM_001378454.1(ALMS1):c.6560del (p.Gly2187fs)
|
|
|
NM_001378454.1(ALMS1):c.6561T>A (p.Gly2187=)
|
|
|
NM_001378454.1(ALMS1):c.6566A>G (p.Tyr2189Cys)
|
|
|
NM_001378454.1(ALMS1):c.6566dup (p.Tyr2189Ter)
|
|
|
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs)
|
rs1034630858
|
|
NM_001378454.1(ALMS1):c.6570_6573dup (p.Gly2192fs)
|
rs1553404277
|
|
NM_001378454.1(ALMS1):c.6572A>G (p.His2191Arg)
|
|
|
NM_001378454.1(ALMS1):c.6575G>A (p.Gly2192Asp)
|
|
|
NM_001378454.1(ALMS1):c.6587A>G (p.Lys2196Arg)
|
rs2103790737
|
|
NM_001378454.1(ALMS1):c.6587del (p.Lys2196fs)
|
rs1553404283
|
|
NM_001378454.1(ALMS1):c.658A>G (p.Ser220Gly)
|
rs2103710382
|
|
NM_001378454.1(ALMS1):c.6590T>G (p.Leu2197Arg)
|
rs2103790750
|
|
NM_001378454.1(ALMS1):c.6591T>A (p.Leu2197=)
|
|
|
NM_001378454.1(ALMS1):c.6597A>G (p.Ser2199=)
|
|
|
NM_001378454.1(ALMS1):c.659G>A (p.Ser220Asn)
|
rs2103710395
|
|
NM_001378454.1(ALMS1):c.6603T>C (p.His2201=)
|
|
|
NM_001378454.1(ALMS1):c.6606C>A (p.Val2202=)
|
rs2103790804
|
|
NM_001378454.1(ALMS1):c.6612G>C (p.Arg2204Ser)
|
rs758379924
|
|
NM_001378454.1(ALMS1):c.6612G>T (p.Arg2204Ser)
|
|
|
NM_001378454.1(ALMS1):c.6615A>C (p.Leu2205=)
|
|
|
NM_001378454.1(ALMS1):c.6617T>G (p.Ile2206Arg)
|
rs1671985244
|
|
NM_001378454.1(ALMS1):c.6627G>C (p.Leu2209Phe)
|
|
|
NM_001378454.1(ALMS1):c.6632C>A (p.Ser2211Tyr)
|
rs1357695377
|
|
NM_001378454.1(ALMS1):c.6637G>C (p.Asp2213His)
|
|
|
NM_001378454.1(ALMS1):c.663T>C (p.Phe221=)
|
|
|
NM_001378454.1(ALMS1):c.6642C>T (p.Ser2214=)
|
|
|
NM_001378454.1(ALMS1):c.6645T>C (p.Ser2215=)
|
|
|
NM_001378454.1(ALMS1):c.6649A>G (p.Ser2217Gly)
|
|
|
NM_001378454.1(ALMS1):c.665C>T (p.Ala222Val)
|
|
|
NM_001378454.1(ALMS1):c.6663G>C (p.Val2221=)
|
|
|
NM_001378454.1(ALMS1):c.6665T>C (p.Leu2222Pro)
|
|
|
NM_001378454.1(ALMS1):c.6668T>C (p.Leu2223Ser)
|
|
|
NM_001378454.1(ALMS1):c.6668_6669insTTTTTTTTTTTTTTTTNNNNNNNNNNGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCCAAATAATGTGCTTTT (p.Leu2223delinsPhePhePhePhePhePheXaaXaaXaaXaaArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgAlaLysTer)
|
rs2103790992
|
|
NM_001378454.1(ALMS1):c.6679G>A (p.Ala2227Thr)
|
|
|
NM_001378454.1(ALMS1):c.6679G>C (p.Ala2227Pro)
|
rs1671986679
|
|
NM_001378454.1(ALMS1):c.6681T>A (p.Ala2227=)
|
|
|
NM_001378454.1(ALMS1):c.6681T>C (p.Ala2227=)
|
rs2103791063
|
|
NM_001378454.1(ALMS1):c.6683_6684del (p.Asp2228fs)
|
rs2103791069
|
|
NM_001378454.1(ALMS1):c.6688A>G (p.Arg2230Gly)
|
|
|
NM_001378454.1(ALMS1):c.6688dup (p.Arg2230fs)
|
rs2103791083
|
|
NM_001378454.1(ALMS1):c.6689G>C (p.Arg2230Thr)
|
rs1671986841
|
|
NM_001378454.1(ALMS1):c.668C>A (p.Ser223Tyr)
|
rs886038615
|
|
NM_001378454.1(ALMS1):c.6690_6691del (p.Arg2230fs)
|
|
|
NM_001378454.1(ALMS1):c.6690del (p.Val2231fs)
|
rs1553404305
|
|
NM_001378454.1(ALMS1):c.6696A>C (p.Val2232=)
|
|
|
NM_001378454.1(ALMS1):c.66G>A (p.Glu22=)
|
rs1574423753
|
|
NM_001378454.1(ALMS1):c.66_67insAAG (p.Glu22_Glu23insLys)
|
|
|
NM_001378454.1(ALMS1):c.66_67insAAGGAG (p.Glu22_Glu23insLysGlu)
|
rs1553396142
|
|
NM_001378454.1(ALMS1):c.6703A>T (p.Lys2235Ter)
|
|
|
NM_001378454.1(ALMS1):c.6706C>T (p.Pro2236Ser)
|
rs200724860
|
|
NM_001378454.1(ALMS1):c.6716C>T (p.Ala2239Val)
|
|
|
NM_001378454.1(ALMS1):c.6717A>G (p.Ala2239=)
|
|
|
NM_001378454.1(ALMS1):c.6723T>C (p.Phe2241=)
|
rs1671987512
|
|
NM_001378454.1(ALMS1):c.6729T>A (p.Asp2243Glu)
|
|
|
NM_001378454.1(ALMS1):c.6731T>C (p.Val2244Ala)
|
rs1671987655
|
|
NM_001378454.1(ALMS1):c.6745A>T (p.Ile2249Phe)
|
rs946232848
|
|
NM_001378454.1(ALMS1):c.6747C>A (p.Ile2249=)
|
rs2103791280
|
|
NM_001378454.1(ALMS1):c.6766G>C (p.Ala2256Pro)
|
|
|
NM_001378454.1(ALMS1):c.6770A>G (p.Lys2257Arg)
|
|
|
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs)
|
rs1553404310
|
|
NM_001378454.1(ALMS1):c.6775C>G (p.Leu2259Val)
|
rs748833907
|
|
NM_001378454.1(ALMS1):c.6777T>C (p.Leu2259=)
|
|
|
NM_001378454.1(ALMS1):c.6787C>T (p.Arg2263Trp)
|
|
|
NM_001378454.1(ALMS1):c.6788G>A (p.Arg2263Gln)
|
|
|
NM_001378454.1(ALMS1):c.6796T>C (p.Leu2266=)
|
|
|
NM_001378454.1(ALMS1):c.6799A>G (p.Met2267Val)
|
rs142904692
|
|
NM_001378454.1(ALMS1):c.6799A>T (p.Met2267Leu)
|
|
|
NM_001378454.1(ALMS1):c.6803A>G (p.Glu2268Gly)
|
|
|
NM_001378454.1(ALMS1):c.6811A>G (p.Asn2271Asp)
|
rs1558651314
|
|
NM_001378454.1(ALMS1):c.6813dup (p.Met2272fs)
|
rs1671989236
|
|
NM_001378454.1(ALMS1):c.6816G>T (p.Met2272Ile)
|
rs765233946
|
|
NM_001378454.1(ALMS1):c.6819A>G (p.Ala2273=)
|
rs2103791525
|
|
NM_001378454.1(ALMS1):c.681T>C (p.Pro227=)
|
rs2103710453
|
|
NM_001378454.1(ALMS1):c.6828A>G (p.Arg2276=)
|
|
|
NM_001378454.1(ALMS1):c.6829T>C (p.Cys2277Arg)
|
rs1671989930
|
|
NM_001378454.1(ALMS1):c.6831C>G (p.Cys2277Trp)
|
rs761713440
|
|
NM_001378454.1(ALMS1):c.6837del (p.Pro2280fs)
|
rs1553404337
|
|
NM_001378454.1(ALMS1):c.6839del (p.Pro2280fs)
|
|
|
NM_001378454.1(ALMS1):c.6843T>C (p.Ala2281=)
|
|
|
NM_001378454.1(ALMS1):c.6846C>T (p.Pro2282=)
|
rs2103791656
|
|
NM_001378454.1(ALMS1):c.6847C>T (p.Leu2283Phe)
|
rs886056309
|
|
NM_001378454.1(ALMS1):c.6847dup (p.Leu2283fs)
|
rs1558651349
|
|
NM_001378454.1(ALMS1):c.6848T>G (p.Leu2283Arg)
|
rs1442336894
|
|
NM_001378454.1(ALMS1):c.6850G>C (p.Ala2284Pro)
|
|
|
NM_001378454.1(ALMS1):c.6853C>G (p.Arg2285Gly)
|
rs375458331
|
|
NM_001378454.1(ALMS1):c.6854G>A (p.Arg2285His)
|
rs6546839
|
|
NM_001378454.1(ALMS1):c.6854G>T (p.Arg2285Leu)
|
rs6546839
|
|
NM_001378454.1(ALMS1):c.6856T>C (p.Phe2286Leu)
|
|
|
NM_001378454.1(ALMS1):c.6858C>T (p.Phe2286=)
|
|
|
NM_001378454.1(ALMS1):c.686T>C (p.Leu229Pro)
|
|
|
NM_001378454.1(ALMS1):c.6886C>G (p.Gln2296Glu)
|
rs747355678
|
|
NM_001378454.1(ALMS1):c.6886C>T (p.Gln2296Ter)
|
rs747355678
|
|
NM_001378454.1(ALMS1):c.6888A>G (p.Gln2296=)
|
|
|
NM_001378454.1(ALMS1):c.688A>G (p.Thr230Ala)
|
rs2103710477
|
|
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs)
|
rs1553404358
|
|
NM_001378454.1(ALMS1):c.6899T>C (p.Val2300Ala)
|
rs1057523384
|
|
NM_001378454.1(ALMS1):c.68_69insAGA (p.Glu28_Ala29insGlu)
|
|
|
NM_001378454.1(ALMS1):c.68_69insAGAGGA (p.Glu27_Glu28dup)
|
rs756301830
|
|
NM_001378454.1(ALMS1):c.68_69insAGAGGAGGAGGA (p.Glu25_Glu28dup)
|
rs2104057317
|
|
NM_001378454.1(ALMS1):c.68_69insAGAGGAGGAGGAGGAGGAGGA (p.Glu28_Ala29insGluGluGluGluGluGluGlu)
|
|
|
NM_001378454.1(ALMS1):c.6901G>A (p.Val2301Ile)
|
rs1671992482
|
|
NM_001378454.1(ALMS1):c.6909C>T (p.Phe2303=)
|
rs1229228880
|
|
NM_001378454.1(ALMS1):c.6910A>T (p.Lys2304Ter)
|
|
|
NM_001378454.1(ALMS1):c.6916C>T (p.Pro2306Ser)
|
|
|
NM_001378454.1(ALMS1):c.6917C>G (p.Pro2306Arg)
|
|
|
NM_001378454.1(ALMS1):c.6918C>G (p.Pro2306=)
|
|
|
NM_001378454.1(ALMS1):c.6918C>T (p.Pro2306=)
|
|
|
NM_001378454.1(ALMS1):c.6918del (p.Ser2307fs)
|
rs2103791934
|
|
NM_001378454.1(ALMS1):c.6921T>C (p.Ser2307=)
|
|
|
NM_001378454.1(ALMS1):c.6923C>A (p.Ser2308Tyr)
|
|
|
NM_001378454.1(ALMS1):c.6925dup (p.Thr2309fs)
|
rs1553404368
|
|
NM_001378454.1(ALMS1):c.6927G>A (p.Thr2309=)
|
|
|
NM_001378454.1(ALMS1):c.6930T>C (p.Gly2310=)
|
|
|
NM_001378454.1(ALMS1):c.6933A>C (p.Val2311=)
|
|
|
NM_001378454.1(ALMS1):c.6936T>C (p.Ser2312=)
|
|
|
NM_001378454.1(ALMS1):c.6944A>T (p.Asp2315Val)
|
rs2103792016
|
|
NM_001378454.1(ALMS1):c.6948G>A (p.Leu2316=)
|
rs754729193
|
|
NM_001378454.1(ALMS1):c.6948G>T (p.Leu2316Phe)
|
|
|
NM_001378454.1(ALMS1):c.6957A>G (p.Arg2319=)
|
|
|
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs)
|
rs1553404377
|
|
NM_001378454.1(ALMS1):c.695dup (p.Leu232fs)
|
rs1553400437
|
|
NM_001378454.1(ALMS1):c.6963A>G (p.Pro2321=)
|
rs2103792111
|
|
NM_001378454.1(ALMS1):c.6968C>T (p.Thr2323Ile)
|
rs1671994565
|
|
NM_001378454.1(ALMS1):c.696G>A (p.Leu232=)
|
rs1394347088
|
|
NM_001378454.1(ALMS1):c.6971A>G (p.Glu2324Gly)
|
|
|
NM_001378454.1(ALMS1):c.6972G>A (p.Glu2324=)
|
rs2103792130
|
|
NM_001378454.1(ALMS1):c.6975A>G (p.Glu2325=)
|
rs1455390186
|
|
NM_001378454.1(ALMS1):c.6984C>T (p.Ser2328=)
|
rs2103792157
|
|
NM_001378454.1(ALMS1):c.6990G>A (p.Arg2330=)
|
rs2103792165
|
|
NM_001378454.1(ALMS1):c.6993C>A (p.Cys2331Ter)
|
|
|
NM_001378454.1(ALMS1):c.699A>G (p.Thr233=)
|
|
|
NM_001378454.1(ALMS1):c.69G>A (p.Glu23=)
|
|
|
NM_001378454.1(ALMS1):c.69_70insAAG (p.Glu23_Glu24insLys)
|
rs1006328829
|
|
NM_001378454.1(ALMS1):c.7000A>G (p.Lys2334Glu)
|
|
|
NM_001378454.1(ALMS1):c.7001dup (p.Asp2335fs)
|
|
|
NM_001378454.1(ALMS1):c.7004A>T (p.Asp2335Val)
|
rs771422712
|
|
NM_001378454.1(ALMS1):c.7006A>G (p.Ile2336Val)
|
|
|
NM_001378454.1(ALMS1):c.7007T>C (p.Ile2336Thr)
|
rs746208159
|
|
NM_001378454.1(ALMS1):c.7007T>G (p.Ile2336Ser)
|
|
|
NM_001378454.1(ALMS1):c.7008T>C (p.Ile2336=)
|
|
|
NM_001378454.1(ALMS1):c.7013C>A (p.Thr2338Lys)
|
rs373004988
|
|
NM_001378454.1(ALMS1):c.7019C>T (p.Thr2340Met)
|
|
|
NM_001378454.1(ALMS1):c.7029A>G (p.Lys2343=)
|
rs2103792354
|
|
NM_001378454.1(ALMS1):c.7031G>C (p.Cys2344Ser)
|
rs148306148
|
|
NM_001378454.1(ALMS1):c.7033C>A (p.Arg2345=)
|
|
|
NM_001378454.1(ALMS1):c.7035G>A (p.Arg2345=)
|
|
|
NM_001378454.1(ALMS1):c.7041C>T (p.Gly2347=)
|
rs2103792423
|
|
NM_001378454.1(ALMS1):c.7050T>C (p.Asn2350=)
|
|
|
NM_001378454.1(ALMS1):c.7059T>C (p.Phe2353=)
|
rs1671996344
|
|
NM_001378454.1(ALMS1):c.705C>T (p.Asp235=)
|
|
|
NM_001378454.1(ALMS1):c.7067C>A (p.Ser2356Ter)
|
|
|
NM_001378454.1(ALMS1):c.7084C>T (p.Pro2362Ser)
|
rs2103792526
|
|
NM_001378454.1(ALMS1):c.7086T>G (p.Pro2362=)
|
rs1170522128
|
|
NM_001378454.1(ALMS1):c.7087C>G (p.Leu2363Val)
|
|
|
NM_001378454.1(ALMS1):c.7087C>T (p.Leu2363=)
|
|
|
NM_001378454.1(ALMS1):c.7087del (p.Leu2363fs)
|
rs1553404395
|
|
NM_001378454.1(ALMS1):c.7093G>A (p.Glu2365Lys)
|
rs1572938591
|
|
NM_001378454.1(ALMS1):c.70_71insCGG (p.Glu23_Glu24insAla)
|
rs1442274468
|
|
NM_001378454.1(ALMS1):c.7103G>A (p.Ser2368Asn)
|
rs781640600
|
|
NM_001378454.1(ALMS1):c.7105A>G (p.Lys2369Glu)
|
rs2103792593
|
|
NM_001378454.1(ALMS1):c.710A>G (p.Glu237Gly)
|
rs2103710589
|
|
NM_001378454.1(ALMS1):c.7111A>C (p.Ser2371Arg)
|
rs2103792619
|
|
NM_001378454.1(ALMS1):c.711A>G (p.Glu237=)
|
rs2103710597
|
|
NM_001378454.1(ALMS1):c.7129dup (p.Thr2377fs)
|
|
|
NM_001378454.1(ALMS1):c.7131T>C (p.Thr2377=)
|
rs2103792743
|
|
NM_001378454.1(ALMS1):c.7132C>T (p.Leu2378Phe)
|
rs768751472
|
|
NM_001378454.1(ALMS1):c.7145A>G (p.Gln2382Arg)
|
|
|
NM_001378454.1(ALMS1):c.7155A>G (p.Lys2385=)
|
|
|
NM_001378454.1(ALMS1):c.7160_7161delinsGT (p.Val2387Gly)
|
rs2103792865
|
|
NM_001378454.1(ALMS1):c.7167G>T (p.Arg2389Ser)
|
rs1553404408
|
|
NM_001378454.1(ALMS1):c.7170T>C (p.Ser2390=)
|
|
|
NM_001378454.1(ALMS1):c.7175C>T (p.Pro2392Leu)
|
rs1384040049
|
|
NM_001378454.1(ALMS1):c.717G>T (p.Ala239=)
|
rs373972884
|
|
NM_001378454.1(ALMS1):c.7182G>A (p.Gly2394=)
|
rs1572938646
|
|
NM_001378454.1(ALMS1):c.7182G>T (p.Gly2394=)
|
rs1572938646
|
|
NM_001378454.1(ALMS1):c.7184G>A (p.Cys2395Tyr)
|
|
|
NM_001378454.1(ALMS1):c.718C>T (p.Pro240Ser)
|
|
|
NM_001378454.1(ALMS1):c.7193C>A (p.Thr2398Asn)
|
rs200470452
|
|
NM_001378454.1(ALMS1):c.7193C>T (p.Thr2398Ile)
|
rs200470452
|
|
NM_001378454.1(ALMS1):c.7194C>T (p.Thr2398=)
|
|
|
NM_001378454.1(ALMS1):c.719C>T (p.Pro240Leu)
|
|
|
NM_001378454.1(ALMS1):c.71_72insAGA (p.Glu28dup)
|
rs2104057693
|
|
NM_001378454.1(ALMS1):c.7209T>C (p.Ile2403=)
|
|
|
NM_001378454.1(ALMS1):c.7209TAT[1] (p.Ile2405del)
|
|
|
NM_001378454.1(ALMS1):c.7215C>T (p.Ile2405=)
|
rs2103793068
|
|
NM_001378454.1(ALMS1):c.7219A>G (p.Met2407Val)
|
rs1198704030
|
|
NM_001378454.1(ALMS1):c.7226del (p.Thr2409fs)
|
rs1553404423
|
|
NM_001378454.1(ALMS1):c.7227T>A (p.Thr2409=)
|
rs768032353
|
|
NM_001378454.1(ALMS1):c.7230C>T (p.Val2410=)
|
rs2103793146
|
|
NM_001378454.1(ALMS1):c.7234A>T (p.Lys2412Ter)
|
|
|
NM_001378454.1(ALMS1):c.7237dup (p.Ser2413fs)
|
rs1553404426
|
|
NM_001378454.1(ALMS1):c.7242T>C (p.Asp2414=)
|
|
|
NM_001378454.1(ALMS1):c.7244C>A (p.Ser2415Ter)
|
rs1060500039
|
|
NM_001378454.1(ALMS1):c.7244C>G (p.Ser2415Ter)
|
|
|
NM_001378454.1(ALMS1):c.7246A>G (p.Ser2416Gly)
|
|
|
NM_001378454.1(ALMS1):c.7250G>C (p.Ser2417Thr)
|
|
|
NM_001378454.1(ALMS1):c.7250G>T (p.Ser2417Ile)
|
|
|
NM_001378454.1(ALMS1):c.7251T>C (p.Ser2417=)
|
|
|
NM_001378454.1(ALMS1):c.7256C>T (p.Ala2419Val)
|
rs1672001133
|
|
NM_001378454.1(ALMS1):c.725C>A (p.Ser242Tyr)
|
|
|
NM_001378454.1(ALMS1):c.725C>G (p.Ser242Cys)
|
|
|
NM_001378454.1(ALMS1):c.7262A>G (p.Asp2421Gly)
|
rs886056310
|
|
NM_001378454.1(ALMS1):c.7273T>G (p.Ser2425Ala)
|
|
|
NM_001378454.1(ALMS1):c.7275C>G (p.Ser2425=)
|
rs748261604
|
|
NM_001378454.1(ALMS1):c.7275C>T (p.Ser2425=)
|
rs748261604
|
|
NM_001378454.1(ALMS1):c.7277G>T (p.Cys2426Phe)
|
rs35649068
|
|
NM_001378454.1(ALMS1):c.7280C>T (p.Ser2427Leu)
|
|
|
NM_001378454.1(ALMS1):c.7288A>G (p.Ser2430Gly)
|
rs539112266
|
|
NM_001378454.1(ALMS1):c.728T>C (p.Leu243Ser)
|
rs2103710678
|
|
NM_001378454.1(ALMS1):c.7296A>G (p.Leu2432=)
|
|
|
NM_001378454.1(ALMS1):c.7298C>G (p.Pro2433Arg)
|
rs2103793431
|
|
NM_001378454.1(ALMS1):c.729A>G (p.Leu243=)
|
|
|
NM_001378454.1(ALMS1):c.72_73insAAG (p.Glu24_Glu25insLys)
|
rs1553396155
|
|
NM_001378454.1(ALMS1):c.7301_7302del (p.Glu2434fs)
|
rs1246023978
|
|
NM_001378454.1(ALMS1):c.7310A>T (p.Glu2437Val)
|
|
|
NM_001378454.1(ALMS1):c.7311A>G (p.Glu2437=)
|
|
|
NM_001378454.1(ALMS1):c.7315G>C (p.Val2439Leu)
|
|
|
NM_001378454.1(ALMS1):c.7320T>C (p.Ser2440=)
|
rs1672002722
|
|
NM_001378454.1(ALMS1):c.7325T>A (p.Val2442Asp)
|
rs886056311
|
|
NM_001378454.1(ALMS1):c.7330C>T (p.Leu2444=)
|
|
|
NM_001378454.1(ALMS1):c.7330_7331delinsATA (p.Leu2444fs)
|
rs1553404457
|
|
NM_001378454.1(ALMS1):c.7332_7333insGGA (p.Leu2444_Asn2445insGly)
|
rs2103793539
|
|
NM_001378454.1(ALMS1):c.7341T>C (p.Phe2447=)
|
rs1430973672
|
|
NM_001378454.1(ALMS1):c.7344A>C (p.Pro2448=)
|
rs533061408
|
|
NM_001378454.1(ALMS1):c.7344A>G (p.Pro2448=)
|
rs533061408
|
|
NM_001378454.1(ALMS1):c.7346A>G (p.Tyr2449Cys)
|
rs766767334
|
|
NM_001378454.1(ALMS1):c.7347T>C (p.Tyr2449=)
|
rs755252895
|
|
NM_001378454.1(ALMS1):c.7353A>G (p.Ser2451=)
|
|
|
NM_001378454.1(ALMS1):c.7356C>T (p.Pro2452=)
|
rs1290880090
|
|
NM_001378454.1(ALMS1):c.7361C>T (p.Thr2454Ile)
|
|
|
NM_001378454.1(ALMS1):c.7370C>T (p.Thr2457Ile)
|
|
|
NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer)
|
rs1225343345
|
|
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs)
|
rs1370417967
|
|
NM_001378454.1(ALMS1):c.7375A>G (p.Ser2459Gly)
|
|
|
NM_001378454.1(ALMS1):c.7377C>T (p.Ser2459=)
|
rs867561704
|
|
NM_001378454.1(ALMS1):c.737A>C (p.Gln246Pro)
|
rs779584471
|
|
NM_001378454.1(ALMS1):c.7381G>C (p.Glu2461Gln)
|
|
|
NM_001378454.1(ALMS1):c.7388A>G (p.Glu2463Gly)
|
|
|
NM_001378454.1(ALMS1):c.7388_7392dup (p.Val2465fs)
|
rs1553404473
|
|
NM_001378454.1(ALMS1):c.7389G>A (p.Glu2463=)
|
|
|
NM_001378454.1(ALMS1):c.7391G>A (p.Gly2464Asp)
|
rs779815578
|
|
NM_001378454.1(ALMS1):c.7395G>T (p.Val2465=)
|
rs1558651751
|
|
NM_001378454.1(ALMS1):c.7398A>G (p.Ser2466=)
|
rs2103793843
|
|
NM_001378454.1(ALMS1):c.73G>T (p.Glu25Ter)
|
rs1285425883
|
|
NM_001378454.1(ALMS1):c.7405G>T (p.Glu2469Ter)
|
rs373586405
|
|
NM_001378454.1(ALMS1):c.7406A>G (p.Glu2469Gly)
|
|
|
NM_001378454.1(ALMS1):c.7407G>T (p.Glu2469Asp)
|
|
|
NM_001378454.1(ALMS1):c.7412G>T (p.Gly2471Val)
|
rs1672005992
|
|
NM_001378454.1(ALMS1):c.7414G>C (p.Gly2472Arg)
|
rs1672006091
|
|
NM_001378454.1(ALMS1):c.7418G>A (p.Gly2473Asp)
|
rs1348368424
|
|
NM_001378454.1(ALMS1):c.7423A>G (p.Ser2475Gly)
|
rs2103793967
|
|
NM_001378454.1(ALMS1):c.7430A>G (p.Asp2477Gly)
|
|
|
NM_001378454.1(ALMS1):c.7432T>G (p.Ser2478Ala)
|
rs1672006362
|
|
NM_001378454.1(ALMS1):c.7435C>T (p.Leu2479=)
|
|
|
NM_001378454.1(ALMS1):c.7439C>T (p.Ala2480Val)
|
rs2103793995
|
|
NM_001378454.1(ALMS1):c.7443A>G (p.Ala2481=)
|
|
|
NM_001378454.1(ALMS1):c.7444C>A (p.His2482Asn)
|
|
|
NM_001378454.1(ALMS1):c.7448T>A (p.Val2483Glu)
|
|
|
NM_001378454.1(ALMS1):c.744A>G (p.Glu248=)
|
|
|
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter)
|
rs2103794046
|
|
NM_001378454.1(ALMS1):c.7452A>G (p.Lys2484=)
|
rs1286157205
|
|
NM_001378454.1(ALMS1):c.7454del (p.Asn2485fs)
|
rs1217507627
|
|
NM_001378454.1(ALMS1):c.7455C>A (p.Asn2485Lys)
|
rs988216695
|
|
NM_001378454.1(ALMS1):c.7455C>T (p.Asn2485=)
|
|
|
NM_001378454.1(ALMS1):c.7457T>C (p.Leu2486Pro)
|
|
|
NM_001378454.1(ALMS1):c.7463A>T (p.Gln2488Leu)
|
|
|
NM_001378454.1(ALMS1):c.7470A>C (p.Glu2490Asp)
|
rs1180605370
|
|
NM_001378454.1(ALMS1):c.7473C>T (p.Ser2491=)
|
rs1572938980
|
|
NM_001378454.1(ALMS1):c.7482T>C (p.Asn2494=)
|
|
|
NM_001378454.1(ALMS1):c.7485T>C (p.His2495=)
|
|
|
NM_001378454.1(ALMS1):c.7491A>G (p.Lys2497=)
|
|
|
NM_001378454.1(ALMS1):c.7492G>C (p.Glu2498Gln)
|
|
|
NM_001378454.1(ALMS1):c.749G>C (p.Ser250Thr)
|
rs2103710757
|
|
NM_001378454.1(ALMS1):c.74_75insCGA (p.Glu24_Glu25insAsp)
|
rs1491479006
|
|
NM_001378454.1(ALMS1):c.74_75insGAGGAA (p.Glu25_Glu26insArgLys)
|
rs1574423810
|
|
NM_001378454.1(ALMS1):c.74_75insGGAAGA (p.Glu27_Glu28dup)
|
rs1491479006
|
|
NM_001378454.1(ALMS1):c.74_75insGGAAGAGGA (p.Glu28_Ala29insGluGluGlu)
|
|
|
NM_001378454.1(ALMS1):c.74_75insGGAAGAGGAGGAGGAGGA (p.Glu23_Glu28dup)
|
rs1182322031
|
|
NM_001378454.1(ALMS1):c.74_75insGGAAGAGGAGGAGGAGGAGGA (p.Glu22_Glu28dup)
|
rs2104057327
|
|
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAAGA (p.Glu28_Ala29insGluGluGluGluGlu)
|
|
|
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAAGAGGAGGAGGAGGAGGA (p.Glu19_Glu28dup)
|
rs2104057327
|
|
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGA (p.Glu18_Glu28dup)
|
rs2104057327
|
|
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGA (p.Glu28_Ala29insGluGluGluGluGluGluGluGluGluGluGluGluGlu)
|
|
|
NM_001378454.1(ALMS1):c.74_75insGGAGTA (p.Glu26_Glu27insTerGlu)
|
rs1574423810
|
|
NM_001378454.1(ALMS1):c.74_75insGGC (p.Glu25_Glu26insAla)
|
rs1553396120
|
|
NM_001378454.1(ALMS1):c.7507G>A (p.Ala2503Thr)
|
rs202060439
|
|
NM_001378454.1(ALMS1):c.7507G>T (p.Ala2503Ser)
|
rs202060439
|
|
NM_001378454.1(ALMS1):c.7527G>A (p.Arg2509=)
|
rs2103794339
|
|
NM_001378454.1(ALMS1):c.7530A>G (p.Val2510=)
|
rs2103794345
|
|
NM_001378454.1(ALMS1):c.7531C>T (p.Arg2511Ter)
|
rs1315351235
|
|
NM_001378454.1(ALMS1):c.7532G>A (p.Arg2511Gln)
|
|
|
NM_001378454.1(ALMS1):c.7536A>G (p.Ala2512=)
|
|
|
NM_001378454.1(ALMS1):c.7539_7540insAAT (p.His2513_Ala2514insAsn)
|
rs757932553
|
|
NM_001378454.1(ALMS1):c.7540+10A>G
|
rs2103794412
|
|
NM_001378454.1(ALMS1):c.7540+11A>G
|
rs1553404509
|
|
NM_001378454.1(ALMS1):c.7540+14T>G
|
rs533780922
|
|
NM_001378454.1(ALMS1):c.7540+18G>A
|
|
|
NM_001378454.1(ALMS1):c.7540+19G>A
|
|
|
NM_001378454.1(ALMS1):c.7540+1G>A
|
|
|
NM_001378454.1(ALMS1):c.7540+1G>T
|
|
|
NM_001378454.1(ALMS1):c.7540+20C>A
|
rs1410444926
|
|
NM_001378454.1(ALMS1):c.7540+2T>C
|
rs1672009270
|
|
NM_001378454.1(ALMS1):c.7540+3A>G
|
|
|
NM_001378454.1(ALMS1):c.7540+9A>G
|
|
|
NM_001378454.1(ALMS1):c.7540+9A>T
|
|
|
NM_001378454.1(ALMS1):c.7541-11T>C
|
|
|
NM_001378454.1(ALMS1):c.7541-17G>A
|
|
|
NM_001378454.1(ALMS1):c.7541-17G>C
|
rs758134188
|
|
NM_001378454.1(ALMS1):c.7541-19G>A
|
rs1553404624
|
|
NM_001378454.1(ALMS1):c.7541-4C>G
|
rs1380143996
|
|
NM_001378454.1(ALMS1):c.7541-8C>A
|
rs1553404629
|
|
NM_001378454.1(ALMS1):c.7541-8C>T
|
rs1553404629
|
|
NM_001378454.1(ALMS1):c.7544G>A (p.Trp2515Ter)
|
|
|
NM_001378454.1(ALMS1):c.7547A>G (p.Asn2516Ser)
|
|
|
NM_001378454.1(ALMS1):c.7553A>G (p.Lys2518Arg)
|
|
|
NM_001378454.1(ALMS1):c.7557C>T (p.Phe2519=)
|
rs2103797357
|
|
NM_001378454.1(ALMS1):c.755C>T (p.Ala252Val)
|
rs2103710779
|
|
NM_001378454.1(ALMS1):c.7562T>C (p.Leu2521Ser)
|
|
|
NM_001378454.1(ALMS1):c.7564G>A (p.Ala2522Thr)
|
rs2103797392
|
|
NM_001378454.1(ALMS1):c.756A>C (p.Ala252=)
|
rs2103710786
|
|
NM_001378454.1(ALMS1):c.7575T>C (p.Cys2525=)
|
rs1211562053
|
|
NM_001378454.1(ALMS1):c.7578A>G (p.Gly2526=)
|
rs1204731958
|
|
NM_001378454.1(ALMS1):c.7581C>T (p.Tyr2527=)
|
rs761997400
|
|
NM_001378454.1(ALMS1):c.7584C>G (p.Ser2528=)
|
rs1672034621
|
|
NM_001378454.1(ALMS1):c.7589C>G (p.Ser2530Ter)
|
rs1572939837
|
|
NM_001378454.1(ALMS1):c.7590A>G (p.Ser2530=)
|
|
|
NM_001378454.1(ALMS1):c.7596A>G (p.Leu2532=)
|
|
|
NM_001378454.1(ALMS1):c.7598A>G (p.Asn2533Ser)
|
|
|
NM_001378454.1(ALMS1):c.7599T>C (p.Asn2533=)
|
|
|
NM_001378454.1(ALMS1):c.7599T>G (p.Asn2533Lys)
|
|
|
NM_001378454.1(ALMS1):c.75_77del (p.Glu28del)
|
rs1553396161
|
|
NM_001378454.1(ALMS1):c.75_77dup (p.Glu28dup)
|
rs1553396161
|
|
NM_001378454.1(ALMS1):c.75_80del (p.Glu27_Glu28del)
|
rs754175473
|
|
NM_001378454.1(ALMS1):c.75_80dup (p.Glu27_Glu28dup)
|
rs754175473
|
|
NM_001378454.1(ALMS1):c.75_83del (p.Glu26_Glu28del)
|
|
|
NM_001378454.1(ALMS1):c.7600G>A (p.Glu2534Lys)
|
|
|
NM_001378454.1(ALMS1):c.7604A>T (p.Asp2535Val)
|
|
|
NM_001378454.1(ALMS1):c.7608C>T (p.Asp2536=)
|
|
|
NM_001378454.1(ALMS1):c.7609A>C (p.Arg2537=)
|
|
|
NM_001378454.1(ALMS1):c.760C>T (p.Leu254=)
|
rs774576999
|
|
NM_001378454.1(ALMS1):c.7611G>A (p.Arg2537=)
|
|
|
NM_001378454.1(ALMS1):c.7620A>G (p.Val2540=)
|
|
|
NM_001378454.1(ALMS1):c.7623A>G (p.Glu2541=)
|
|
|
NM_001378454.1(ALMS1):c.7624del (p.Glu2542fs)
|
|
|
NM_001378454.1(ALMS1):c.7629C>G (p.Ile2543Met)
|
|
|
NM_001378454.1(ALMS1):c.762G>A (p.Leu254=)
|
|
|
NM_001378454.1(ALMS1):c.7632G>A (p.Lys2544=)
|
|
|
NM_001378454.1(ALMS1):c.7635A>G (p.Ala2545=)
|
rs752568120
|
|
NM_001378454.1(ALMS1):c.7638G>A (p.Glu2546=)
|
rs1672035793
|
|
NM_001378454.1(ALMS1):c.7639T>C (p.Leu2547=)
|
|
|
NM_001378454.1(ALMS1):c.7639T>G (p.Leu2547Val)
|
rs200155429
|
|
NM_001378454.1(ALMS1):c.764+12T>A
|
|
|
NM_001378454.1(ALMS1):c.764+12dup
|
rs2103710895
|
|
NM_001378454.1(ALMS1):c.764+13A>C
|
|
|
NM_001378454.1(ALMS1):c.764+17G>A
|
|
|
NM_001378454.1(ALMS1):c.764+17G>T
|
rs1057524596
|
|
NM_001378454.1(ALMS1):c.764+20T>G
|
|
|
NM_001378454.1(ALMS1):c.764+3A>G
|
rs772334395
|
|
NM_001378454.1(ALMS1):c.764+9A>T
|
rs551013858
|
|
NM_001378454.1(ALMS1):c.7641A>G (p.Leu2547=)
|
|
|
NM_001378454.1(ALMS1):c.7642T>C (p.Phe2548Leu)
|
|
|
NM_001378454.1(ALMS1):c.7647T>C (p.Gly2549=)
|
|
|
NM_001378454.1(ALMS1):c.765-11T>C
|
|
|
NM_001378454.1(ALMS1):c.765-13TA[2]
|
rs1553400662
|
|
NM_001378454.1(ALMS1):c.765-15_765-12del
|
rs1432858141
|
|
NM_001378454.1(ALMS1):c.765-17T>C
|
|
|
NM_001378454.1(ALMS1):c.765-1G>C
|
|
|
NM_001378454.1(ALMS1):c.765-20_765-17del
|
|
|
NM_001378454.1(ALMS1):c.765-6T>A
|
rs755762723
|
|
NM_001378454.1(ALMS1):c.765-6T>C
|
rs755762723
|
|
NM_001378454.1(ALMS1):c.765-8A>G
|
rs2103714342
|
|
NM_001378454.1(ALMS1):c.7650T>C (p.His2550=)
|
rs756901095
|
|
NM_001378454.1(ALMS1):c.7652G>A (p.Gly2551Glu)
|
|
|
NM_001378454.1(ALMS1):c.7653A>T (p.Gly2551=)
|
rs1553404658
|
|
NM_001378454.1(ALMS1):c.7658C>T (p.Thr2553Ile)
|
|
|
NM_001378454.1(ALMS1):c.7660A>G (p.Thr2554Ala)
|
|
|
NM_001378454.1(ALMS1):c.7666T>C (p.Leu2556=)
|
rs2103797706
|
|
NM_001378454.1(ALMS1):c.7670C>T (p.Ser2557Phe)
|
rs878855001
|
|
NM_001378454.1(ALMS1):c.7671C>T (p.Ser2557=)
|
rs749872283
|
|
NM_001378454.1(ALMS1):c.7672A>T (p.Lys2558Ter)
|
rs1200012970
|
|
NM_001378454.1(ALMS1):c.7674+10A>G
|
rs1553404676
|
|
NM_001378454.1(ALMS1):c.7674+13T>C
|
|
|
NM_001378454.1(ALMS1):c.7674+14C>T
|
|
|
NM_001378454.1(ALMS1):c.7674+16G>A
|
|
|
NM_001378454.1(ALMS1):c.7674+1G>A
|
rs1417025395
|
|
NM_001378454.1(ALMS1):c.7674+1G>T
|
rs1417025395
|
|
NM_001378454.1(ALMS1):c.7674+3A>G
|
rs1553404673
|
|
NM_001378454.1(ALMS1):c.7674+5A>G
|
rs756532322
|
|
NM_001378454.1(ALMS1):c.7675-12T>C
|
|
|
NM_001378454.1(ALMS1):c.7675-13_7675-10del
|
|
|
NM_001378454.1(ALMS1):c.7675-15G>T
|
|
|
NM_001378454.1(ALMS1):c.7675-4C>T
|
|
|
NM_001378454.1(ALMS1):c.7675-7C>T
|
rs1553409573
|
|
NM_001378454.1(ALMS1):c.7675-8T>A
|
rs1553409572
|
|
NM_001378454.1(ALMS1):c.7675-8T>C
|
|
|
NM_001378454.1(ALMS1):c.7675-9A>G
|
rs2103889006
|
|
NM_001378454.1(ALMS1):c.7676G>T (p.Gly2559Val)
|
|
|
NM_001378454.1(ALMS1):c.7682A>G (p.Gln2561Arg)
|
|
|
NM_001378454.1(ALMS1):c.7682A>T (p.Gln2561Leu)
|
|
|
NM_001378454.1(ALMS1):c.7684A>C (p.Ser2562Arg)
|
rs772417159
|
|
NM_001378454.1(ALMS1):c.7684A>G (p.Ser2562Gly)
|
|
|
NM_001378454.1(ALMS1):c.7685G>A (p.Ser2562Asn)
|
rs1672930739
|
|
NM_001378454.1(ALMS1):c.7688C>G (p.Pro2563Arg)
|
|
|
NM_001378454.1(ALMS1):c.7688C>T (p.Pro2563Leu)
|
|
|
NM_001378454.1(ALMS1):c.7690C>G (p.Arg2564Gly)
|
rs554047243
|
|
NM_001378454.1(ALMS1):c.7690C>T (p.Arg2564Trp)
|
|
|
NM_001378454.1(ALMS1):c.7691G>A (p.Arg2564Gln)
|
|
|
NM_001378454.1(ALMS1):c.7695A>C (p.Gly2565=)
|
rs944178146
|
|
NM_001378454.1(ALMS1):c.769del (p.Ile257fs)
|
rs1553400675
|
|
NM_001378454.1(ALMS1):c.76G>C (p.Glu26Gln)
|
|
|
NM_001378454.1(ALMS1):c.7701A>G (p.Gly2567=)
|
|
|
NM_001378454.1(ALMS1):c.7709C>G (p.Pro2570Arg)
|
|
|
NM_001378454.1(ALMS1):c.770T>A (p.Ile257Asn)
|
|
|
NM_001378454.1(ALMS1):c.7710A>G (p.Pro2570=)
|
rs750225944
|
|
NM_001378454.1(ALMS1):c.7713A>G (p.Glu2571=)
|
|
|
NM_001378454.1(ALMS1):c.7724G>C (p.Ser2575Thr)
|
|
|
NM_001378454.1(ALMS1):c.7729A>G (p.Ile2577Val)
|
|
|
NM_001378454.1(ALMS1):c.7732A>G (p.Ile2578Val)
|
|
|
NM_001378454.1(ALMS1):c.7735A>T (p.Ile2579Phe)
|
|
|
NM_001378454.1(ALMS1):c.7736T>C (p.Ile2579Thr)
|
|
|
NM_001378454.1(ALMS1):c.7737_7738insTTTTTTTTTTTTTTTTTTNNNNNNNNNNACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCGATTTTCCTGCCTCAGCCTCCGTCACATTATTATT (p.Ile2579_Glu2580insPhePhePhePhePhePheXaaXaaXaaXaaGlyValLeuLeuCysCysLeuGlyGlyValGlnTrpCysAsnLeuGlySerLeuGlnProLeuProProArgLeuLysArgPheSerCysLeuSerLeuArgHisIleIleIle)
|
rs2103889249
|
|
NM_001378454.1(ALMS1):c.7738G>A (p.Glu2580Lys)
|
|
|
NM_001378454.1(ALMS1):c.7739A>G (p.Glu2580Gly)
|
rs2103889306
|
|
NM_001378454.1(ALMS1):c.7740G>A (p.Glu2580=)
|
|
|
NM_001378454.1(ALMS1):c.7740G>C (p.Glu2580Asp)
|
rs543921060
|
|
NM_001378454.1(ALMS1):c.7742G>A (p.Ser2581Asn)
|
|
|
NM_001378454.1(ALMS1):c.7743C>A (p.Ser2581Arg)
|
rs370740871
|
|
NM_001378454.1(ALMS1):c.7744C>T (p.His2582Tyr)
|
rs2103889340
|
|
NM_001378454.1(ALMS1):c.774T>C (p.Pro258=)
|
|
|
NM_001378454.1(ALMS1):c.7750A>G (p.Lys2584Glu)
|
rs776783409
|
|
NM_001378454.1(ALMS1):c.7751del (p.Lys2584fs)
|
|
|
NM_001378454.1(ALMS1):c.7752G>A (p.Lys2584=)
|
rs745947655
|
|
NM_001378454.1(ALMS1):c.7752G>C (p.Lys2584Asn)
|
|
|
NM_001378454.1(ALMS1):c.7755A>G (p.Gly2585=)
|
rs1672933172
|
|
NM_001378454.1(ALMS1):c.775G>C (p.Asp259His)
|
|
|
NM_001378454.1(ALMS1):c.7761C>T (p.Phe2587=)
|
rs1553409598
|
|
NM_001378454.1(ALMS1):c.7762C>T (p.Arg2588Trp)
|
|
|
NM_001378454.1(ALMS1):c.7763G>A (p.Arg2588Gln)
|
|
|
NM_001378454.1(ALMS1):c.7769dup (p.Thr2591fs)
|
|
|
NM_001378454.1(ALMS1):c.7770A>G (p.Leu2590=)
|
rs753477646
|
|
NM_001378454.1(ALMS1):c.7772C>G (p.Thr2591Ser)
|
rs2103889489
|
|
NM_001378454.1(ALMS1):c.7777G>T (p.Glu2593Ter)
|
|
|
NM_001378454.1(ALMS1):c.7786C>T (p.Gln2596Ter)
|
rs1672934629
|
|
NM_001378454.1(ALMS1):c.7788A>G (p.Gln2596=)
|
|
|
NM_001378454.1(ALMS1):c.7792G>T (p.Asp2598Tyr)
|
|
|
NM_001378454.1(ALMS1):c.7797A>G (p.Arg2599=)
|
|
|
NM_001378454.1(ALMS1):c.77A>C (p.Glu26Ala)
|
|
|
NM_001378454.1(ALMS1):c.7800C>T (p.His2600=)
|
|
|
NM_001378454.1(ALMS1):c.7801C>T (p.Pro2601Ser)
|
rs1553409608
|
|
NM_001378454.1(ALMS1):c.7802C>A (p.Pro2601His)
|
rs2103889598
|
|
NM_001378454.1(ALMS1):c.7806T>A (p.Cys2602Ter)
|
|
|
NM_001378454.1(ALMS1):c.780G>A (p.Lys260=)
|
rs1553400683
|
|
NM_001378454.1(ALMS1):c.7810T>G (p.Phe2604Val)
|
rs1220754616
|
|
NM_001378454.1(ALMS1):c.7811T>C (p.Phe2604Ser)
|
rs1672935406
|
|
NM_001378454.1(ALMS1):c.7817C>G (p.Ser2606Cys)
|
|
|
NM_001378454.1(ALMS1):c.7821T>G (p.Ala2607=)
|
|
|
NM_001378454.1(ALMS1):c.7825C>A (p.Pro2609Thr)
|
rs2103889689
|
|
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs)
|
rs1553409617
|
|
NM_001378454.1(ALMS1):c.782C>G (p.Ser261Cys)
|
rs1671339296
|
|
NM_001378454.1(ALMS1):c.7830A>G (p.Ser2610=)
|
|
|
NM_001378454.1(ALMS1):c.7836G>A (p.Met2612Ile)
|
|
|
NM_001378454.1(ALMS1):c.7839C>A (p.Thr2613=)
|
rs746168704
|
|
NM_001378454.1(ALMS1):c.7839C>G (p.Thr2613=)
|
|
|
NM_001378454.1(ALMS1):c.7839C>T (p.Thr2613=)
|
rs746168704
|
|
NM_001378454.1(ALMS1):c.783T>C (p.Ser261=)
|
rs1572914265
|
|
NM_001378454.1(ALMS1):c.7844G>A (p.Gly2615Glu)
|
|
|
NM_001378454.1(ALMS1):c.7847G>A (p.Arg2616Gln)
|
|
|
NM_001378454.1(ALMS1):c.784G>T (p.Glu262Ter)
|
|
|
NM_001378454.1(ALMS1):c.7854C>G (p.Asn2618Lys)
|
|
|
NM_001378454.1(ALMS1):c.7854C>T (p.Asn2618=)
|
|
|
NM_001378454.1(ALMS1):c.7856C>G (p.Pro2619Arg)
|
rs1672936863
|
|
NM_001378454.1(ALMS1):c.7863A>G (p.Ser2621=)
|
|
|
NM_001378454.1(ALMS1):c.7864dup (p.Cys2622fs)
|
rs2103889832
|
|
NM_001378454.1(ALMS1):c.7866C>A (p.Cys2622Ter)
|
|
|
NM_001378454.1(ALMS1):c.7866C>T (p.Cys2622=)
|
|
|
NM_001378454.1(ALMS1):c.786_788dup (p.Glu262_Asp263insGlu)
|
|
|
NM_001378454.1(ALMS1):c.7870G>A (p.Ala2624Thr)
|
|
|
NM_001378454.1(ALMS1):c.7870G>C (p.Ala2624Pro)
|
|
|
NM_001378454.1(ALMS1):c.7878T>A (p.His2626Gln)
|
rs940478567
|
|
NM_001378454.1(ALMS1):c.7887T>C (p.Leu2629=)
|
|
|
NM_001378454.1(ALMS1):c.7887T>G (p.Leu2629=)
|
rs1277528063
|
|
NM_001378454.1(ALMS1):c.7888T>G (p.Ser2630Ala)
|
rs1672937962
|
|
NM_001378454.1(ALMS1):c.7890T>C (p.Ser2630=)
|
|
|
NM_001378454.1(ALMS1):c.7893A>C (p.Ala2631=)
|
rs2103889947
|
|
NM_001378454.1(ALMS1):c.7898T>A (p.Leu2633Ter)
|
|
|
NM_001378454.1(ALMS1):c.7898T>C (p.Leu2633Ser)
|
rs2103889971
|
|
NM_001378454.1(ALMS1):c.7900G>T (p.Asp2634Tyr)
|
rs201426207
|
|
NM_001378454.1(ALMS1):c.7901A>G (p.Asp2634Gly)
|
rs1368206928
|
|
NM_001378454.1(ALMS1):c.7904A>G (p.Gln2635Arg)
|
|
|
NM_001378454.1(ALMS1):c.7908C>T (p.Asn2636=)
|
|
|
NM_001378454.1(ALMS1):c.790dup (p.Thr264fs)
|
rs1307785790
|
|
NM_001378454.1(ALMS1):c.7911C>T (p.Asn2637=)
|
rs751995271
|
|
NM_001378454.1(ALMS1):c.7913C>A (p.Ser2638Tyr)
|
|
|
NM_001378454.1(ALMS1):c.7926T>A (p.Val2642=)
|
rs749406009
|
|
NM_001378454.1(ALMS1):c.7927T>C (p.Trp2643Arg)
|
|
|
NM_001378454.1(ALMS1):c.792T>C (p.Thr264=)
|
|
|
NM_001378454.1(ALMS1):c.7935C>T (p.Ser2645=)
|
rs2103890063
|
|
NM_001378454.1(ALMS1):c.793G>A (p.Glu265Lys)
|
|
|
NM_001378454.1(ALMS1):c.7940A>G (p.Gln2647Arg)
|
rs2103890068
|
|
NM_001378454.1(ALMS1):c.7948A>C (p.Ser2650Arg)
|
rs567474729
|
|
NM_001378454.1(ALMS1):c.7948del (p.Ser2650fs)
|
|
|
NM_001378454.1(ALMS1):c.7956C>T (p.Ser2652=)
|
rs2103890112
|
|
NM_001378454.1(ALMS1):c.7957C>G (p.Pro2653Ala)
|
|
|
NM_001378454.1(ALMS1):c.7964A>G (p.Gln2655Arg)
|
|
|
NM_001378454.1(ALMS1):c.7969T>C (p.Phe2657Leu)
|
|
|
NM_001378454.1(ALMS1):c.7969_7975del (p.Phe2657fs)
|
|
|
NM_001378454.1(ALMS1):c.7975C>T (p.Pro2659Ser)
|
|
|
NM_001378454.1(ALMS1):c.7981G>A (p.Glu2661Lys)
|
rs762452929
|
|
NM_001378454.1(ALMS1):c.7986C>T (p.Phe2662=)
|
|
|
NM_001378454.1(ALMS1):c.7994G>C (p.Ser2665Thr)
|
rs1672940448
|
|
NM_001378454.1(ALMS1):c.7997A>C (p.Lys2666Thr)
|
rs2103890229
|
|
NM_001378454.1(ALMS1):c.7998A>G (p.Lys2666=)
|
|
|
NM_001378454.1(ALMS1):c.7998_8013dup (p.Phe2672fs)
|
rs1553409656
|
|
NM_001378454.1(ALMS1):c.7999G>C (p.Gly2667Arg)
|
|
|
NM_001378454.1(ALMS1):c.7C>T (p.Pro3Ser)
|
|
|
NM_001378454.1(ALMS1):c.8002C>T (p.Leu2668Phe)
|
|
|
NM_001378454.1(ALMS1):c.8005C>T (p.Arg2669Ter)
|
rs549857076
|
|
NM_001378454.1(ALMS1):c.8013A>C (p.Pro2671=)
|
rs1672940803
|
|
NM_001378454.1(ALMS1):c.8017_8018delinsCC (p.Asp2673Pro)
|
rs2103890304
|
|
NM_001378454.1(ALMS1):c.8018A>G (p.Asp2673Gly)
|
|
|
NM_001378454.1(ALMS1):c.8019T>A (p.Asp2673Glu)
|
|
|
NM_001378454.1(ALMS1):c.801T>G (p.Ser267=)
|
rs2103714530
|
|
NM_001378454.1(ALMS1):c.8021A>G (p.Glu2674Gly)
|
|
|
NM_001378454.1(ALMS1):c.8025G>C (p.Lys2675Asn)
|
rs2103890339
|
|
NM_001378454.1(ALMS1):c.8026A>T (p.Met2676Leu)
|
|
|
NM_001378454.1(ALMS1):c.8028G>A (p.Met2676Ile)
|
|
|
NM_001378454.1(ALMS1):c.802T>C (p.Ser268Pro)
|
rs2103714536
|
|
NM_001378454.1(ALMS1):c.8031C>T (p.Asp2677=)
|
rs754078506
|
|
NM_001378454.1(ALMS1):c.803_805del (p.Ser268_Arg269delinsTer)
|
rs758952057
|
|
NM_001378454.1(ALMS1):c.8042C>G (p.Ser2681Ter)
|
|
|
NM_001378454.1(ALMS1):c.8043A>G (p.Ser2681=)
|
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|
NM_001378454.1(ALMS1):c.8044G>C (p.Glu2682Gln)
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|
NM_001378454.1(ALMS1):c.8052A>G (p.Val2684=)
|
rs2103890442
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NM_001378454.1(ALMS1):c.8057C>T (p.Pro2686Leu)
|
rs1269143077
|
|
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter)
|
rs1426009756
|
|
NM_001378454.1(ALMS1):c.8061T>A (p.Ala2687=)
|
|
|
NM_001378454.1(ALMS1):c.8068C>G (p.Pro2690Ala)
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|
NM_001378454.1(ALMS1):c.8070A>G (p.Pro2690=)
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|
NM_001378454.1(ALMS1):c.8072del (p.Pro2691fs)
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|
NM_001378454.1(ALMS1):c.8075AAG[1] (p.Glu2693del)
|
rs1553409676
|
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NM_001378454.1(ALMS1):c.8077G>T (p.Glu2693Ter)
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|
|
NM_001378454.1(ALMS1):c.8079A>G (p.Glu2693=)
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|
NM_001378454.1(ALMS1):c.807A>G (p.Arg269=)
|
rs2103714566
|
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NM_001378454.1(ALMS1):c.8089C>T (p.His2697Tyr)
|
rs956487104
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NM_001378454.1(ALMS1):c.8109del (p.Ser2704fs)
|
rs2103890652
|
|
NM_001378454.1(ALMS1):c.810A>G (p.Pro270=)
|
rs2103714585
|
|
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.8127A>G (p.Lys2709=)
|
rs766713925
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|
NM_001378454.1(ALMS1):c.8129del (p.Lys2710fs)
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|
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NM_001378454.1(ALMS1):c.812C>T (p.Ser271Leu)
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NM_001378454.1(ALMS1):c.8130G>A (p.Lys2710=)
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NM_001378454.1(ALMS1):c.8133del (p.Phe2711fs)
|
rs1553409683
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NM_001378454.1(ALMS1):c.8135C>T (p.Thr2712Ile)
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NM_001378454.1(ALMS1):c.8139C>T (p.Thr2713=)
|
rs2103890785
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NM_001378454.1(ALMS1):c.8141_8148del (p.Ser2714fs)
|
rs1553409686
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NM_001378454.1(ALMS1):c.8142C>T (p.Ser2714=)
|
rs1572969339
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NM_001378454.1(ALMS1):c.8143A>G (p.Ile2715Val)
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NM_001378454.1(ALMS1):c.8146A>C (p.Thr2716Pro)
|
rs1234404032
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NM_001378454.1(ALMS1):c.8150T>G (p.Phe2717Cys)
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|
|
NM_001378454.1(ALMS1):c.8152T>C (p.Ser2718Pro)
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NM_001378454.1(ALMS1):c.8152dup (p.Ser2718fs)
|
rs1553409691
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NM_001378454.1(ALMS1):c.8153C>A (p.Ser2718Ter)
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NM_001378454.1(ALMS1):c.8154A>G (p.Ser2718=)
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|
NM_001378454.1(ALMS1):c.8156C>G (p.Ser2719Cys)
|
rs1572969357
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NM_001378454.1(ALMS1):c.8163A>G (p.Arg2721=)
|
rs756062297
|
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NM_001378454.1(ALMS1):c.8167T>A (p.Ser2723Thr)
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|
|
NM_001378454.1(ALMS1):c.816A>G (p.Glu272=)
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NM_001378454.1(ALMS1):c.8174_8184del (p.Cys2725fs)
|
rs2103890894
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NM_001378454.1(ALMS1):c.8178T>C (p.Ile2726=)
|
rs773943182
|
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NM_001378454.1(ALMS1):c.8183A>T (p.Asn2728Ile)
|
rs886758563
|
|
NM_001378454.1(ALMS1):c.8197A>C (p.Lys2733Gln)
|
rs1553409698
|
|
NM_001378454.1(ALMS1):c.8203G>C (p.Gly2735Arg)
|
rs761136859
|
|
NM_001378454.1(ALMS1):c.8205T>G (p.Gly2735=)
|
rs2103891015
|
|
NM_001378454.1(ALMS1):c.820A>T (p.Ser274Cys)
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|
|
NM_001378454.1(ALMS1):c.8211T>C (p.Thr2737=)
|
rs759935089
|
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NM_001378454.1(ALMS1):c.8211T>G (p.Thr2737=)
|
rs759935089
|
|
NM_001378454.1(ALMS1):c.8215G>A (p.Gly2739Ser)
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|
NM_001378454.1(ALMS1):c.8218A>G (p.Ser2740Gly)
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|
NM_001378454.1(ALMS1):c.8220C>A (p.Ser2740Arg)
|
rs920410396
|
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NM_001378454.1(ALMS1):c.8220C>T (p.Ser2740=)
|
rs920410396
|
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NM_001378454.1(ALMS1):c.8221C>T (p.Gln2741Ter)
|
|
|
NM_001378454.1(ALMS1):c.8223G>A (p.Gln2741=)
|
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NM_001378454.1(ALMS1):c.8223G>T (p.Gln2741His)
|
|
|
NM_001378454.1(ALMS1):c.8225G>C (p.Cys2742Ser)
|
|
|
NM_001378454.1(ALMS1):c.8229T>A (p.Thr2743=)
|
rs2103891110
|
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NM_001378454.1(ALMS1):c.8229T>C (p.Thr2743=)
|
rs2103891110
|
|
NM_001378454.1(ALMS1):c.8235A>G (p.Ala2745=)
|
|
|
NM_001378454.1(ALMS1):c.823G>T (p.Glu275Ter)
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NM_001378454.1(ALMS1):c.8241G>A (p.Val2747=)
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NM_001378454.1(ALMS1):c.8242G>C (p.Gly2748Arg)
|
|
|
NM_001378454.1(ALMS1):c.8244G>A (p.Gly2748=)
|
rs1488100564
|
|
NM_001378454.1(ALMS1):c.8244G>C (p.Gly2748=)
|
rs1488100564
|
|
NM_001378454.1(ALMS1):c.8245G>A (p.Val2749Ile)
|
|
|
NM_001378454.1(ALMS1):c.8245dup (p.Val2749fs)
|
rs748621056
|
|
NM_001378454.1(ALMS1):c.8246T>C (p.Val2749Ala)
|
rs2103891180
|
|
NM_001378454.1(ALMS1):c.8250T>C (p.Phe2750=)
|
|
|
NM_001378454.1(ALMS1):c.8250_8254del (p.Asn2751fs)
|
rs2103891188
|
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NM_001378454.1(ALMS1):c.8252A>G (p.Asn2751Ser)
|
|
|
NM_001378454.1(ALMS1):c.8254T>A (p.Ser2752Thr)
|
|
|
NM_001378454.1(ALMS1):c.8256T>G (p.Ser2752=)
|
rs2103891214
|
|
NM_001378454.1(ALMS1):c.8258A>G (p.His2753Arg)
|
|
|
NM_001378454.1(ALMS1):c.8259T>C (p.His2753=)
|
|
|
NM_001378454.1(ALMS1):c.8260T>A (p.Phe2754Ile)
|
|
|
NM_001378454.1(ALMS1):c.8266G>A (p.Glu2756Lys)
|
|
|
NM_001378454.1(ALMS1):c.8267A>G (p.Glu2756Gly)
|
|
|
NM_001378454.1(ALMS1):c.8272C>A (p.Gln2758Lys)
|
rs756042345
|
|
NM_001378454.1(ALMS1):c.8275A>T (p.Asn2759Tyr)
|
|
|
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala)
|
rs369650940
|
|
NM_001378454.1(ALMS1):c.8281C>T (p.Pro2761Ser)
|
|
|
NM_001378454.1(ALMS1):c.8286A>G (p.Arg2762=)
|
rs2103891320
|
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NM_001378454.1(ALMS1):c.8290C>T (p.Leu2764Phe)
|
rs2103891331
|
|
NM_001378454.1(ALMS1):c.8295dup (p.Gln2766fs)
|
|
|
NM_001378454.1(ALMS1):c.8296C>G (p.Gln2766Glu)
|
|
|
NM_001378454.1(ALMS1):c.8298G>A (p.Gln2766=)
|
|
|
NM_001378454.1(ALMS1):c.8299A>G (p.Lys2767Glu)
|
|
|
NM_001378454.1(ALMS1):c.82G>A (p.Glu28Lys)
|
rs1670512542
|
|
NM_001378454.1(ALMS1):c.8304C>A (p.Thr2768=)
|
rs2103891364
|
|
NM_001378454.1(ALMS1):c.8304C>G (p.Thr2768=)
|
|
|
NM_001378454.1(ALMS1):c.8306C>T (p.Ser2769Phe)
|
rs1060500037
|
|
NM_001378454.1(ALMS1):c.8310C>T (p.Ser2770=)
|
rs2103891385
|
|
NM_001378454.1(ALMS1):c.8311C>A (p.Pro2771Thr)
|
rs1245686264
|
|
NM_001378454.1(ALMS1):c.8315CAT[1] (p.Ser2773del)
|
rs770459045
|
|
NM_001378454.1(ALMS1):c.8316A>G (p.Ser2772=)
|
|
|
NM_001378454.1(ALMS1):c.8316A>T (p.Ser2772=)
|
rs777224319
|
|
NM_001378454.1(ALMS1):c.8323A>G (p.Lys2775Glu)
|
rs1572969570
|
|
NM_001378454.1(ALMS1):c.8324A>G (p.Lys2775Arg)
|
|
|
NM_001378454.1(ALMS1):c.8328G>A (p.Met2776Ile)
|
|
|
NM_001378454.1(ALMS1):c.8335A>G (p.Asn2779Asp)
|
rs1672950651
|
|
NM_001378454.1(ALMS1):c.833_834del (p.Phe278fs)
|
rs1671340542
|
|
NM_001378454.1(ALMS1):c.8340A>C (p.Ser2780=)
|
|
|
NM_001378454.1(ALMS1):c.8343del (p.Asp2782fs)
|
|
|
NM_001378454.1(ALMS1):c.8345A>G (p.Asp2782Gly)
|
rs1672950843
|
|
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer)
|
rs1553409710
|
|
NM_001378454.1(ALMS1):c.8350G>C (p.Glu2784Gln)
|
|
|
NM_001378454.1(ALMS1):c.8358T>G (p.Thr2786=)
|
rs2103891552
|
|
NM_001378454.1(ALMS1):c.8358_8363del (p.Ile2787_Leu2788del)
|
rs1553409711
|
|
NM_001378454.1(ALMS1):c.8358dup (p.Ile2787fs)
|
|
|
NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs)
|
|
|
NM_001378454.1(ALMS1):c.8375G>A (p.Arg2792Lys)
|
|
|
NM_001378454.1(ALMS1):c.8376A>G (p.Arg2792=)
|
|
|
NM_001378454.1(ALMS1):c.837G>T (p.Gln279His)
|
|
|
NM_001378454.1(ALMS1):c.8380C>T (p.Gln2794Ter)
|
rs193919338
|
|
NM_001378454.1(ALMS1):c.8387A>G (p.Gln2796Arg)
|
|
|
NM_001378454.1(ALMS1):c.8388A>G (p.Gln2796=)
|
|
|
NM_001378454.1(ALMS1):c.8388A>T (p.Gln2796His)
|
rs770409935
|
|
NM_001378454.1(ALMS1):c.8391A>G (p.Lys2797=)
|
rs2103891688
|
|
NM_001378454.1(ALMS1):c.8391dup (p.Leu2798fs)
|
rs1553409715
|
|
NM_001378454.1(ALMS1):c.8392T>C (p.Leu2798=)
|
|
|
NM_001378454.1(ALMS1):c.8394A>G (p.Leu2798=)
|
|
|
NM_001378454.1(ALMS1):c.8396C>G (p.Pro2799Arg)
|
|
|
NM_001378454.1(ALMS1):c.840T>C (p.Ala280=)
|
rs2103714655
|
|
NM_001378454.1(ALMS1):c.8413T>C (p.Ser2805Pro)
|
|
|
NM_001378454.1(ALMS1):c.8419C>A (p.Gln2807Lys)
|
rs1314753569
|
|
NM_001378454.1(ALMS1):c.8426A>C (p.Glu2809Ala)
|
|
|
NM_001378454.1(ALMS1):c.8432C>G (p.Pro2811Arg)
|
|
|
NM_001378454.1(ALMS1):c.8435T>A (p.Leu2812Ter)
|
|
|
NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=)
|
rs886038617
|
|
NM_001378454.1(ALMS1):c.8440_8443del (p.Arg2814fs)
|
|
|
NM_001378454.1(ALMS1):c.8444C>G (p.Ser2815Ter)
|
rs2103891827
|
|
NM_001378454.1(ALMS1):c.8446G>T (p.Asp2816Tyr)
|
|
|
NM_001378454.1(ALMS1):c.8454A>G (p.Thr2818=)
|
rs1041301597
|
|
NM_001378454.1(ALMS1):c.8462A>T (p.His2821Leu)
|
|
|
NM_001378454.1(ALMS1):c.8466T>G (p.Ser2822=)
|
|
|
NM_001378454.1(ALMS1):c.8469G>A (p.Glu2823=)
|
rs2103891896
|
|
NM_001378454.1(ALMS1):c.8471C>G (p.Pro2824Arg)
|
|
|
NM_001378454.1(ALMS1):c.8472C>T (p.Pro2824=)
|
rs1467835066
|
|
NM_001378454.1(ALMS1):c.8479A>C (p.Arg2827=)
|
rs886056312
|
|
NM_001378454.1(ALMS1):c.847G>A (p.Glu283Lys)
|
rs780066739
|
|
NM_001378454.1(ALMS1):c.847G>T (p.Glu283Ter)
|
|
|
NM_001378454.1(ALMS1):c.8484A>C (p.Ala2828=)
|
|
|
NM_001378454.1(ALMS1):c.8485A>T (p.Asn2829Tyr)
|
|
|
NM_001378454.1(ALMS1):c.8487T>C (p.Asn2829=)
|
rs756959656
|
|
NM_001378454.1(ALMS1):c.8490T>A (p.Cys2830Ter)
|
|
|
NM_001378454.1(ALMS1):c.8490T>C (p.Cys2830=)
|
|
|
NM_001378454.1(ALMS1):c.8491A>C (p.Ser2831Arg)
|
|
|
NM_001378454.1(ALMS1):c.8495A>C (p.Asn2832Thr)
|
|
|
NM_001378454.1(ALMS1):c.8495A>G (p.Asn2832Ser)
|
rs2103892060
|
|
NM_001378454.1(ALMS1):c.8496T>A (p.Asn2832Lys)
|
|
|
NM_001378454.1(ALMS1):c.849A>G (p.Glu283=)
|
|
|
NM_001378454.1(ALMS1):c.8501A>G (p.Lys2834Arg)
|
rs1672955488
|
|
NM_001378454.1(ALMS1):c.8505A>G (p.Glu2835=)
|
|
|
NM_001378454.1(ALMS1):c.850G>A (p.Val284Ile)
|
|
|
NM_001378454.1(ALMS1):c.8512A>G (p.Ile2838Val)
|
|
|
NM_001378454.1(ALMS1):c.8524C>G (p.His2842Asp)
|
rs1553409736
|
|
NM_001378454.1(ALMS1):c.8529_8530insA (p.Leu2844fs)
|
rs2103892164
|
|
NM_001378454.1(ALMS1):c.8538C>T (p.Ser2846=)
|
rs2103892193
|
|
NM_001378454.1(ALMS1):c.8539A>G (p.Met2847Val)
|
|
|
NM_001378454.1(ALMS1):c.8543G>A (p.Gly2848Asp)
|
|
|
NM_001378454.1(ALMS1):c.8544C>A (p.Gly2848=)
|
|
|
NM_001378454.1(ALMS1):c.8549C>T (p.Pro2850Leu)
|
|
|
NM_001378454.1(ALMS1):c.8550A>G (p.Pro2850=)
|
rs1672956807
|
|
NM_001378454.1(ALMS1):c.8555C>G (p.Ser2852Cys)
|
rs2103892251
|
|
NM_001378454.1(ALMS1):c.8556C>T (p.Ser2852=)
|
rs201560634
|
|
NM_001378454.1(ALMS1):c.8560C>T (p.Leu2854=)
|
rs765176591
|
|
NM_001378454.1(ALMS1):c.8560_8580del (p.Leu2854_Ser2860del)
|
rs2103892286
|
|
NM_001378454.1(ALMS1):c.8562A>G (p.Leu2854=)
|
rs2103892303
|
|
NM_001378454.1(ALMS1):c.8563G>T (p.Gly2855Ter)
|
rs1672957185
|
|
NM_001378454.1(ALMS1):c.8564_8565delinsAG (p.Gly2855Glu)
|
|
|
NM_001378454.1(ALMS1):c.8565A>T (p.Gly2855=)
|
|
|
NM_001378454.1(ALMS1):c.8568A>G (p.Val2856=)
|
|
|
NM_001378454.1(ALMS1):c.8574A>C (p.Arg2858Ser)
|
rs1489673662
|
|
NM_001378454.1(ALMS1):c.8574A>G (p.Arg2858=)
|
rs1489673662
|
|
NM_001378454.1(ALMS1):c.8576C>T (p.Ser2859Leu)
|
|
|
NM_001378454.1(ALMS1):c.857C>G (p.Ser286Ter)
|
rs1270472063
|
|
NM_001378454.1(ALMS1):c.8592A>C (p.Gly2864=)
|
|
|
NM_001378454.1(ALMS1):c.8593G>A (p.Val2865Ile)
|
rs780429128
|
|
NM_001378454.1(ALMS1):c.8593G>T (p.Val2865Leu)
|
|
|
NM_001378454.1(ALMS1):c.8597A>C (p.Lys2866Thr)
|
|
|
NM_001378454.1(ALMS1):c.8598del (p.Glu2867fs)
|
rs2103892422
|
|
NM_001378454.1(ALMS1):c.8600A>C (p.Glu2867Ala)
|
|
|
NM_001378454.1(ALMS1):c.8604G>A (p.Lys2868=)
|
|
|
NM_001378454.1(ALMS1):c.8611A>G (p.Thr2871Ala)
|
rs2103892484
|
|
NM_001378454.1(ALMS1):c.8613T>C (p.Thr2871=)
|
rs1672958479
|
|
NM_001378454.1(ALMS1):c.8614A>G (p.Ile2872Val)
|
rs1672958523
|
|
NM_001378454.1(ALMS1):c.8622A>C (p.Pro2874=)
|
rs748474795
|
|
NM_001378454.1(ALMS1):c.8629C>T (p.Pro2877Ser)
|
rs2103892547
|
|
NM_001378454.1(ALMS1):c.8630CTT[1] (p.Ser2878del)
|
rs1553409754
|
|
NM_001378454.1(ALMS1):c.8630_8631insG (p.Ser2878fs)
|
rs2103892558
|
|
NM_001378454.1(ALMS1):c.8636G>T (p.Cys2879Phe)
|
rs747099151
|
|
NM_001378454.1(ALMS1):c.8637C>A (p.Cys2879Ter)
|
|
|
NM_001378454.1(ALMS1):c.8643T>C (p.Phe2881=)
|
|
|
NM_001378454.1(ALMS1):c.8648AAC[1] (p.Gln2884del)
|
rs777935409
|
|
NM_001378454.1(ALMS1):c.8654G>T (p.Arg2885Leu)
|
|
|
NM_001378454.1(ALMS1):c.8658G>A (p.Glu2886=)
|
rs555256551
|
|
NM_001378454.1(ALMS1):c.8658_8783del (p.Ser2891_Gln2932del)
|
|
|
NM_001378454.1(ALMS1):c.8661C>G (p.Leu2887=)
|
rs2103892697
|
|
NM_001378454.1(ALMS1):c.8667A>G (p.Glu2889=)
|
rs2103892726
|
|
NM_001378454.1(ALMS1):c.8668dup (p.Gln2890fs)
|
|
|
NM_001378454.1(ALMS1):c.8669_8672delinsTCTCACT (p.Gln2890_Ser2891delinsLeuSerLeu)
|
|
|
NM_001378454.1(ALMS1):c.8670A>G (p.Gln2890=)
|
|
|
NM_001378454.1(ALMS1):c.8674_8678del (p.Lys2892fs)
|
|
|
NM_001378454.1(ALMS1):c.8677G>A (p.Ala2893Thr)
|
rs2103892779
|
|
NM_001378454.1(ALMS1):c.8683C>A (p.Arg2895Ser)
|
rs765969711
|
|
NM_001378454.1(ALMS1):c.8694C>T (p.Asp2898=)
|
rs2103892855
|
|
NM_001378454.1(ALMS1):c.8696A>G (p.His2899Arg)
|
|
|
NM_001378454.1(ALMS1):c.8697T>C (p.His2899=)
|
rs1280810980
|
|
NM_001378454.1(ALMS1):c.8699T>C (p.Val2900Ala)
|
rs1672960979
|
|
NM_001378454.1(ALMS1):c.86C>A (p.Ala29Asp)
|
|
|
NM_001378454.1(ALMS1):c.8703G>A (p.Arg2901=)
|
rs2103892882
|
|
NM_001378454.1(ALMS1):c.870C>T (p.Ser290=)
|
|
|
NM_001378454.1(ALMS1):c.870del (p.Ser290fs)
|
rs2103714765
|
|
NM_001378454.1(ALMS1):c.8710C>T (p.His2904Tyr)
|
|
|
NM_001378454.1(ALMS1):c.8718dup (p.Ser2907fs)
|
rs1553409764
|
|
NM_001378454.1(ALMS1):c.871A>G (p.Ser291Gly)
|
rs2103714771
|
|
NM_001378454.1(ALMS1):c.8721T>C (p.Ser2907=)
|
rs1386201636
|
|
NM_001378454.1(ALMS1):c.8738A>T (p.Tyr2913Phe)
|
|
|
NM_001378454.1(ALMS1):c.8739T>G (p.Tyr2913Ter)
|
|
|
NM_001378454.1(ALMS1):c.8744C>T (p.Ala2915Val)
|
|
|
NM_001378454.1(ALMS1):c.8745T>A (p.Ala2915=)
|
rs2103893096
|
|
NM_001378454.1(ALMS1):c.8753T>G (p.Leu2918Arg)
|
|
|
NM_001378454.1(ALMS1):c.8753_8754delinsGA (p.Leu2918Arg)
|
|
|
NM_001378454.1(ALMS1):c.8754T>A (p.Leu2918=)
|
|
|
NM_001378454.1(ALMS1):c.8756CTT[1] (p.Ser2920del)
|
rs1553409775
|
|
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs)
|
rs1553409774
|
|
NM_001378454.1(ALMS1):c.8757T>C (p.Pro2919=)
|
rs760452285
|
|
NM_001378454.1(ALMS1):c.8757T>G (p.Pro2919=)
|
|
|
NM_001378454.1(ALMS1):c.875G>A (p.Arg292His)
|
|
|
NM_001378454.1(ALMS1):c.8763C>A (p.Cys2921Ter)
|
rs765908556
|
|
NM_001378454.1(ALMS1):c.8763C>T (p.Cys2921=)
|
|
|
NM_001378454.1(ALMS1):c.8769dup (p.Leu2924fs)
|
rs2103893216
|
|
NM_001378454.1(ALMS1):c.876C>G (p.Arg292=)
|
|
|
NM_001378454.1(ALMS1):c.8770C>T (p.Leu2924Phe)
|
|
|
NM_001378454.1(ALMS1):c.8771T>C (p.Leu2924Pro)
|
|
|
NM_001378454.1(ALMS1):c.8774AAC[1] (p.Gln2926del)
|
rs2103893243
|
|
NM_001378454.1(ALMS1):c.8775A>G (p.Glu2925=)
|
rs1672963670
|
|
NM_001378454.1(ALMS1):c.8776C>A (p.Gln2926Lys)
|
|
|
NM_001378454.1(ALMS1):c.8778A>G (p.Gln2926=)
|
|
|
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter)
|
rs376244626
|
|
NM_001378454.1(ALMS1):c.8788T>G (p.Phe2930Val)
|
rs751893253
|
|
NM_001378454.1(ALMS1):c.8790_8791del (p.Phe2930fs)
|
rs1672964092
|
|
NM_001378454.1(ALMS1):c.8790dup (p.Glu2931Ter)
|
rs1553409778
|
|
NM_001378454.1(ALMS1):c.8796G>A (p.Gln2932=)
|
|
|
NM_001378454.1(ALMS1):c.8799C>T (p.Cys2933=)
|
rs2103893317
|
|
NM_001378454.1(ALMS1):c.87T>A (p.Ala29=)
|
|
|
NM_001378454.1(ALMS1):c.8804C>T (p.Ala2935Val)
|
|
|
NM_001378454.1(ALMS1):c.8805C>A (p.Ala2935=)
|
rs781220396
|
|
NM_001378454.1(ALMS1):c.8808A>G (p.Pro2936=)
|
|
|
NM_001378454.1(ALMS1):c.8816A>G (p.Asp2939Gly)
|
rs886056313
|
|
NM_001378454.1(ALMS1):c.8817T>A (p.Asp2939Glu)
|
|
|
NM_001378454.1(ALMS1):c.8820T>C (p.His2940=)
|
|
|
NM_001378454.1(ALMS1):c.8822A>G (p.Gln2941Arg)
|
|
|
NM_001378454.1(ALMS1):c.8823A>G (p.Gln2941=)
|
|
|
NM_001378454.1(ALMS1):c.8824A>G (p.Met2942Val)
|
rs2103893441
|
|
NM_001378454.1(ALMS1):c.8829A>G (p.Arg2943=)
|
|
|
NM_001378454.1(ALMS1):c.8833A>G (p.Asn2945Asp)
|
rs1330910084
|
|
NM_001378454.1(ALMS1):c.8835C>T (p.Asn2945=)
|
|
|
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg)
|
rs574785830
|
|
NM_001378454.1(ALMS1):c.8840C>T (p.Ser2947Phe)
|
|
|
NM_001378454.1(ALMS1):c.8847T>C (p.Leu2949=)
|
|
|
NM_001378454.1(ALMS1):c.8850T>A (p.Pro2950=)
|
|
|
NM_001378454.1(ALMS1):c.8853A>G (p.Gln2951=)
|
|
|
NM_001378454.1(ALMS1):c.8856_8860del (p.Gln2953fs)
|
rs2103893595
|
|
NM_001378454.1(ALMS1):c.8858_8859insAGCTATAGAATCCTCA (p.Asp2954fs)
|
rs2103893636
|
|
NM_001378454.1(ALMS1):c.8859G>A (p.Gln2953=)
|
rs2103893646
|
|
NM_001378454.1(ALMS1):c.885A>G (p.Val295=)
|
|
|
NM_001378454.1(ALMS1):c.8861A>T (p.Asp2954Val)
|
rs751940353
|
|
NM_001378454.1(ALMS1):c.8862T>G (p.Asp2954Glu)
|
|
|
NM_001378454.1(ALMS1):c.8874A>G (p.Ser2958=)
|
|
|
NM_001378454.1(ALMS1):c.8883G>C (p.Pro2961=)
|
|
|
NM_001378454.1(ALMS1):c.8884T>C (p.Ser2962Pro)
|
|
|
NM_001378454.1(ALMS1):c.8889C>T (p.Pro2963=)
|
rs145029950
|
|
NM_001378454.1(ALMS1):c.888T>C (p.Ser296=)
|
|
|
NM_001378454.1(ALMS1):c.8890A>C (p.Ile2964Leu)
|
rs529506570
|
|
NM_001378454.1(ALMS1):c.8894C>G (p.Ser2965Cys)
|
rs2103893808
|
|
NM_001378454.1(ALMS1):c.8898T>A (p.Leu2966=)
|
rs1572970207
|
|
NM_001378454.1(ALMS1):c.8901A>G (p.Glu2967=)
|
rs371736476
|
|
NM_001378454.1(ALMS1):c.8902C>G (p.Gln2968Glu)
|
rs758433515
|
|
NM_001378454.1(ALMS1):c.8910A>C (p.Gln2970His)
|
rs2103893881
|
|
NM_001378454.1(ALMS1):c.8910A>G (p.Gln2970=)
|
|
|
NM_001378454.1(ALMS1):c.8911A>G (p.Ser2971Gly)
|
rs746825059
|
|
NM_001378454.1(ALMS1):c.8919G>C (p.Ala2973=)
|
|
|
NM_001378454.1(ALMS1):c.8919G>T (p.Ala2973=)
|
|
|
NM_001378454.1(ALMS1):c.891G>A (p.Gln297=)
|
|
|
NM_001378454.1(ALMS1):c.8922A>G (p.Pro2974=)
|
|
|
NM_001378454.1(ALMS1):c.8934C>A (p.Asp2978Glu)
|
|
|
NM_001378454.1(ALMS1):c.8934C>T (p.Asp2978=)
|
|
|
NM_001378454.1(ALMS1):c.8935C>T (p.Gln2979Ter)
|
|
|
NM_001378454.1(ALMS1):c.893A>G (p.His298Arg)
|
|
|
NM_001378454.1(ALMS1):c.8946A>G (p.Lys2982=)
|
rs762397764
|
|
NM_001378454.1(ALMS1):c.8950C>T (p.His2984Tyr)
|
|
|
NM_001378454.1(ALMS1):c.8951A>G (p.His2984Arg)
|
|
|
NM_001378454.1(ALMS1):c.8957C>A (p.Pro2986His)
|
rs1022866808
|
|
NM_001378454.1(ALMS1):c.8957C>T (p.Pro2986Leu)
|
rs1022866808
|
|
NM_001378454.1(ALMS1):c.8958C>T (p.Pro2986=)
|
rs1478666857
|
|
NM_001378454.1(ALMS1):c.8959C>G (p.Leu2987Val)
|
rs952528298
|
|
NM_001378454.1(ALMS1):c.895C>G (p.Pro299Ala)
|
|
|
NM_001378454.1(ALMS1):c.8963C>T (p.Pro2988Leu)
|
rs1224152145
|
|
NM_001378454.1(ALMS1):c.8965C>G (p.Gln2989Glu)
|
|
|
NM_001378454.1(ALMS1):c.8965C>T (p.Gln2989Ter)
|
rs2103894102
|
|
NM_001378454.1(ALMS1):c.8967A>G (p.Gln2989=)
|
|
|
NM_001378454.1(ALMS1):c.896C>T (p.Pro299Leu)
|
rs199899389
|
|
NM_001378454.1(ALMS1):c.8977T>C (p.Cys2993Arg)
|
rs2103894140
|
|
NM_001378454.1(ALMS1):c.8980G>A (p.Val2994Ile)
|
rs45566838
|
|
NM_001378454.1(ALMS1):c.8983G>A (p.Val2995Met)
|
rs1553409810
|
|
NM_001378454.1(ALMS1):c.8989A>C (p.Lys2997Gln)
|
|
|
NM_001378454.1(ALMS1):c.8990A>C (p.Lys2997Thr)
|
|
|
NM_001378454.1(ALMS1):c.8992AAT[1] (p.Asn2999del)
|
rs1553409817
|
|
NM_001378454.1(ALMS1):c.8998C>T (p.Gln3000Ter)
|
rs200930613
|
|
NM_001378454.1(ALMS1):c.9004A>C (p.Lys3002Gln)
|
|
|
NM_001378454.1(ALMS1):c.9006G>A (p.Lys3002=)
|
rs753980616
|
|
NM_001378454.1(ALMS1):c.9006G>C (p.Lys3002Asn)
|
rs753980616
|
|
NM_001378454.1(ALMS1):c.9008C>T (p.Pro3003Leu)
|
rs755044727
|
|
NM_001378454.1(ALMS1):c.9009T>G (p.Pro3003=)
|
|
|
NM_001378454.1(ALMS1):c.900T>C (p.Leu300=)
|
rs2103714886
|
|
NM_001378454.1(ALMS1):c.9010A>G (p.Lys3004Glu)
|
|
|
NM_001378454.1(ALMS1):c.9012A>G (p.Lys3004=)
|
|
|
NM_001378454.1(ALMS1):c.9016C>T (p.His3006Tyr)
|
rs779131632
|
|
NM_001378454.1(ALMS1):c.901A>G (p.Ile301Val)
|
rs534913971
|
|
NM_001378454.1(ALMS1):c.9032A>G (p.Asn3011Ser)
|
rs1672972439
|
|
NM_001378454.1(ALMS1):c.9042C>G (p.Ala3014=)
|
rs769455651
|
|
NM_001378454.1(ALMS1):c.9042C>T (p.Ala3014=)
|
rs769455651
|
|
NM_001378454.1(ALMS1):c.9045G>A (p.Lys3015=)
|
|
|
NM_001378454.1(ALMS1):c.9049A>G (p.Asn3017Asp)
|
rs1572970420
|
|
NM_001378454.1(ALMS1):c.9050A>T (p.Asn3017Ile)
|
|
|
NM_001378454.1(ALMS1):c.9053C>G (p.Thr3018Ser)
|
rs2103894447
|
|
NM_001378454.1(ALMS1):c.9057G>A (p.Val3019=)
|
|
|
NM_001378454.1(ALMS1):c.9062C>G (p.Ser3021Cys)
|
|
|
NM_001378454.1(ALMS1):c.9063C>G (p.Ser3021=)
|
|
|
NM_001378454.1(ALMS1):c.9064C>T (p.Gln3022Ter)
|
|
|
NM_001378454.1(ALMS1):c.9066G>A (p.Gln3022=)
|
|
|
NM_001378454.1(ALMS1):c.9068C>G (p.Ser3023Ter)
|
|
|
NM_001378454.1(ALMS1):c.9069A>C (p.Ser3023=)
|
rs1672973190
|
|
NM_001378454.1(ALMS1):c.906C>T (p.Gly302=)
|
|
|
NM_001378454.1(ALMS1):c.9078T>C (p.Asn3026=)
|
rs886056314
|
|
NM_001378454.1(ALMS1):c.9083_9084del (p.Cys3028fs)
|
|
|
NM_001378454.1(ALMS1):c.908G>A (p.Ser303Asn)
|
|
|
NM_001378454.1(ALMS1):c.9099T>C (p.Ser3033=)
|
|
|
NM_001378454.1(ALMS1):c.90A>C (p.Ala30=)
|
|
|
NM_001378454.1(ALMS1):c.90A>T (p.Ala30=)
|
rs1420916551
|
|
NM_001378454.1(ALMS1):c.90_92del (p.Ala35del)
|
rs973057702
|
|
NM_001378454.1(ALMS1):c.9108T>C (p.Thr3036=)
|
|
|
NM_001378454.1(ALMS1):c.9109CCT[1] (p.Pro3038del)
|
rs759799299
|
|
NM_001378454.1(ALMS1):c.9111T>C (p.Pro3037=)
|
rs1672974409
|
|
NM_001378454.1(ALMS1):c.9113del (p.Pro3038fs)
|
rs1425609364
|
|
NM_001378454.1(ALMS1):c.9116C>T (p.Ser3039Leu)
|
rs1672974629
|
|
NM_001378454.1(ALMS1):c.9121A>G (p.Arg3041Gly)
|
rs757177003
|
|
NM_001378454.1(ALMS1):c.9121A>T (p.Arg3041Ter)
|
|
|
NM_001378454.1(ALMS1):c.9125A>C (p.Lys3042Thr)
|
|
|
NM_001378454.1(ALMS1):c.9127G>A (p.Ala3043Thr)
|
rs373870241
|
|
NM_001378454.1(ALMS1):c.9133T>C (p.Ser3045Pro)
|
rs1300179474
|
|
NM_001378454.1(ALMS1):c.9134C>G (p.Ser3045Cys)
|
|
|
NM_001378454.1(ALMS1):c.9135T>C (p.Ser3045=)
|
|
|
NM_001378454.1(ALMS1):c.9136T>C (p.Cys3046Arg)
|
|
|
NM_001378454.1(ALMS1):c.9139G>A (p.Val3047Ile)
|
|
|
NM_001378454.1(ALMS1):c.9140T>G (p.Val3047Gly)
|
|
|
NM_001378454.1(ALMS1):c.9144T>C (p.His3048=)
|
rs2103894899
|
|
NM_001378454.1(ALMS1):c.9149C>A (p.Thr3050Asn)
|
rs2103894928
|
|
NM_001378454.1(ALMS1):c.9149C>G (p.Thr3050Ser)
|
|
|
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs)
|
rs1553409851
|
|
NM_001378454.1(ALMS1):c.9154T>G (p.Cys3052Gly)
|
rs1672975660
|
|
NM_001378454.1(ALMS1):c.9155G>C (p.Cys3052Ser)
|
|
|
NM_001378454.1(ALMS1):c.9156T>C (p.Cys3052=)
|
rs2103894955
|
|
NM_001378454.1(ALMS1):c.9157C>G (p.Pro3053Ala)
|
rs1672976080
|
|
NM_001378454.1(ALMS1):c.9158C>T (p.Pro3053Leu)
|
rs768273806
|
|
NM_001378454.1(ALMS1):c.9159C>A (p.Pro3053=)
|
|
|
NM_001378454.1(ALMS1):c.9159C>G (p.Pro3053=)
|
|
|
NM_001378454.1(ALMS1):c.9159C>T (p.Pro3053=)
|
|
|
NM_001378454.1(ALMS1):c.915T>C (p.Ala305=)
|
|
|
NM_001378454.1(ALMS1):c.9160A>G (p.Lys3054Glu)
|
|
|
NM_001378454.1(ALMS1):c.9162G>A (p.Lys3054=)
|
rs1268306031
|
|
NM_001378454.1(ALMS1):c.9170_9190dup (p.Ser3057_Thr3063dup)
|
rs1455775922
|
|
NM_001378454.1(ALMS1):c.9180T>C (p.Asp3060=)
|
rs1572970568
|
|
NM_001378454.1(ALMS1):c.9185G>A (p.Gly3062Glu)
|
|
|
NM_001378454.1(ALMS1):c.918T>A (p.Val306=)
|
|
|
NM_001378454.1(ALMS1):c.9190_9191insA (p.Leu3064fs)
|
rs1672976991
|
|
NM_001378454.1(ALMS1):c.9191T>G (p.Leu3064Ter)
|
rs1434010689
|
|
NM_001378454.1(ALMS1):c.9192A>G (p.Leu3064=)
|
|
|
NM_001378454.1(ALMS1):c.9194A>C (p.Asp3065Ala)
|
|
|
NM_001378454.1(ALMS1):c.91GCG[3] (p.Ala34_Ala35del)
|
rs746896173
|
|
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup)
|
rs746896173
|
|
NM_001378454.1(ALMS1):c.9205C>T (p.His3069Tyr)
|
|
|
NM_001378454.1(ALMS1):c.920G>A (p.Gly307Glu)
|
rs2103714961
|
|
NM_001378454.1(ALMS1):c.9210A>G (p.Ser3070=)
|
rs541511993
|
|
NM_001378454.1(ALMS1):c.9210A>T (p.Ser3070=)
|
rs541511993
|
|
NM_001378454.1(ALMS1):c.9211T>C (p.Leu3071=)
|
rs2103895155
|
|
NM_001378454.1(ALMS1):c.9224C>T (p.Ser3075Phe)
|
rs886056315
|
|
NM_001378454.1(ALMS1):c.9226A>T (p.Lys3076Ter)
|
|
|
NM_001378454.1(ALMS1):c.9232A>C (p.Arg3078=)
|
rs2103895260
|
|
NM_001378454.1(ALMS1):c.9235A>G (p.Met3079Val)
|
|
|
NM_001378454.1(ALMS1):c.9240T>C (p.Asn3080=)
|
|
|
NM_001378454.1(ALMS1):c.9242G>T (p.Ser3081Ile)
|
rs750425368
|
|
NM_001378454.1(ALMS1):c.9245del (p.Glu3082fs)
|
|
|
NM_001378454.1(ALMS1):c.9251del (p.Asn3084fs)
|
rs1572970628
|
|
NM_001378454.1(ALMS1):c.9252C>T (p.Asn3084=)
|
rs1237573573
|
|
NM_001378454.1(ALMS1):c.925C>G (p.Gln309Glu)
|
rs1558639213
|
|
NM_001378454.1(ALMS1):c.925_926insT (p.Gln309fs)
|
rs1553400709
|
|
NM_001378454.1(ALMS1):c.9262C>T (p.His3088Tyr)
|
rs1672978412
|
|
NM_001378454.1(ALMS1):c.9267T>C (p.Thr3089=)
|
rs2103895383
|
|
NM_001378454.1(ALMS1):c.9268_9269dup (p.Ser3091fs)
|
rs2103895390
|
|
NM_001378454.1(ALMS1):c.9270A>G (p.Val3090=)
|
|
|
NM_001378454.1(ALMS1):c.9270A>T (p.Val3090=)
|
rs779871507
|
|
NM_001378454.1(ALMS1):c.9278G>T (p.Arg3093Ile)
|
rs1320008798
|
|
NM_001378454.1(ALMS1):c.9292A>G (p.Thr3098Ala)
|
rs1280854716
|
|
NM_001378454.1(ALMS1):c.9293C>A (p.Thr3098Asn)
|
rs1553409866
|
|
NM_001378454.1(ALMS1):c.9303A>G (p.Leu3101=)
|
|
|
NM_001378454.1(ALMS1):c.9304T>C (p.Leu3102=)
|
rs537370242
|
|
NM_001378454.1(ALMS1):c.9306G>A (p.Leu3102=)
|
rs747617053
|
|
NM_001378454.1(ALMS1):c.9309C>T (p.Thr3103=)
|
rs1319009177
|
|
NM_001378454.1(ALMS1):c.930C>T (p.Cys310=)
|
|
|
NM_001378454.1(ALMS1):c.9318T>A (p.Pro3106=)
|
rs771679163
|
|
NM_001378454.1(ALMS1):c.9320T>A (p.Val3107Glu)
|
|
|
NM_001378454.1(ALMS1):c.9325C>G (p.Gln3109Glu)
|
rs1558667813
|
|
NM_001378454.1(ALMS1):c.9325C>T (p.Gln3109Ter)
|
rs1558667813
|
|
NM_001378454.1(ALMS1):c.9336A>T (p.Glu3112Asp)
|
rs1558667820
|
|
NM_001378454.1(ALMS1):c.9337T>C (p.Ser3113Pro)
|
rs1572970696
|
|
NM_001378454.1(ALMS1):c.933T>C (p.Pro311=)
|
rs773082101
|
|
NM_001378454.1(ALMS1):c.9340_9341del (p.Leu3114fs)
|
rs2103895650
|
|
NM_001378454.1(ALMS1):c.9342A>C (p.Leu3114Phe)
|
rs759935236
|
|
NM_001378454.1(ALMS1):c.9342A>G (p.Leu3114=)
|
rs759935236
|
|
NM_001378454.1(ALMS1):c.9351A>G (p.Leu3117=)
|
rs1672980633
|
|
NM_001378454.1(ALMS1):c.9352G>T (p.Gly3118Ter)
|
rs2103895712
|
|
NM_001378454.1(ALMS1):c.9353G>A (p.Gly3118Glu)
|
rs1672980678
|
|
NM_001378454.1(ALMS1):c.9366A>C (p.Ser3122=)
|
rs2103895759
|
|
NM_001378454.1(ALMS1):c.9367C>A (p.Leu3123Met)
|
rs751613156
|
|
NM_001378454.1(ALMS1):c.9367C>T (p.Leu3123=)
|
|
|
NM_001378454.1(ALMS1):c.9371A>G (p.Asp3124Gly)
|
|
|
NM_001378454.1(ALMS1):c.9377A>G (p.Gln3126Arg)
|
rs1553409872
|
|
NM_001378454.1(ALMS1):c.9380T>C (p.Val3127Ala)
|
rs2103895825
|
|
NM_001378454.1(ALMS1):c.9381C>G (p.Val3127=)
|
|
|
NM_001378454.1(ALMS1):c.9382G>T (p.Val3128Leu)
|
rs764937531
|
|
NM_001378454.1(ALMS1):c.9385C>T (p.Gln3129Ter)
|
rs1314034889
|
|
NM_001378454.1(ALMS1):c.9386dup (p.Pro3130fs)
|
|
|
NM_001378454.1(ALMS1):c.9389C>T (p.Pro3130Leu)
|
|
|
NM_001378454.1(ALMS1):c.9393T>C (p.Ser3131=)
|
|
|
NM_001378454.1(ALMS1):c.9394C>T (p.Leu3132Phe)
|
|
|
NM_001378454.1(ALMS1):c.9398C>G (p.Pro3133Arg)
|
|
|
NM_001378454.1(ALMS1):c.9399A>G (p.Pro3133=)
|
|
|
NM_001378454.1(ALMS1):c.9401A>G (p.Asp3134Gly)
|
|
|
NM_001378454.1(ALMS1):c.9402C>T (p.Asp3134=)
|
rs2103895948
|
|
NM_001378454.1(ALMS1):c.9409A>G (p.Thr3137Ala)
|
|
|
NM_001378454.1(ALMS1):c.9410C>G (p.Thr3137Ser)
|
rs775701628
|
|
NM_001378454.1(ALMS1):c.9411T>C (p.Thr3137=)
|
rs985056937
|
|
NM_001378454.1(ALMS1):c.9414T>C (p.Ile3138=)
|
|
|
NM_001378454.1(ALMS1):c.9419_9420del (p.Gln3140fs)
|
rs1558667882
|
|
NM_001378454.1(ALMS1):c.9423C>G (p.Asp3141Glu)
|
rs1486652095
|
|
NM_001378454.1(ALMS1):c.9423C>T (p.Asp3141=)
|
|
|
NM_001378454.1(ALMS1):c.9426G>A (p.Leu3142=)
|
|
|
NM_001378454.1(ALMS1):c.9427A>T (p.Lys3143Ter)
|
|
|
NM_001378454.1(ALMS1):c.9430dup (p.Thr3144fs)
|
rs878855003
|
|
NM_001378454.1(ALMS1):c.9433A>G (p.Ile3145Val)
|
rs767987000
|
|
NM_001378454.1(ALMS1):c.9433A>T (p.Ile3145Leu)
|
rs767987000
|
|
NM_001378454.1(ALMS1):c.9442C>T (p.Gln3148Ter)
|
rs917667192
|
|
NM_001378454.1(ALMS1):c.9465C>G (p.Ser3155=)
|
rs1398748602
|
|
NM_001378454.1(ALMS1):c.9468G>A (p.Arg3156=)
|
|
|
NM_001378454.1(ALMS1):c.9471A>G (p.Gln3157=)
|
rs1273315356
|
|
NM_001378454.1(ALMS1):c.9474dup (p.Gln3159fs)
|
|
|
NM_001378454.1(ALMS1):c.9484A>G (p.Ile3162Val)
|
|
|
NM_001378454.1(ALMS1):c.9489A>G (p.Ser3163=)
|
|
|
NM_001378454.1(ALMS1):c.9490G>A (p.Asp3164Asn)
|
rs2103896409
|
|
NM_001378454.1(ALMS1):c.9499G>A (p.Gly3167Arg)
|
rs746440819
|
|
NM_001378454.1(ALMS1):c.94G>A (p.Ala32Thr)
|
|
|
NM_001378454.1(ALMS1):c.9507C>A (p.Ser3169=)
|
rs2103896514
|
|
NM_001378454.1(ALMS1):c.9507C>T (p.Ser3169=)
|
|
|
NM_001378454.1(ALMS1):c.950A>G (p.Gln317Arg)
|
|
|
NM_001378454.1(ALMS1):c.9510T>C (p.Asn3170=)
|
rs1418366803
|
|
NM_001378454.1(ALMS1):c.9511C>G (p.Pro3171Ala)
|
|
|
NM_001378454.1(ALMS1):c.9522C>A (p.Thr3174=)
|
rs1419983457
|
|
NM_001378454.1(ALMS1):c.9522C>T (p.Thr3174=)
|
rs1419983457
|
|
NM_001378454.1(ALMS1):c.9524C>T (p.Pro3175Leu)
|
|
|
NM_001378454.1(ALMS1):c.9538C>A (p.Arg3180=)
|
rs563393715
|
|
NM_001378454.1(ALMS1):c.9538C>T (p.Arg3180Ter)
|
rs563393715
|
|
NM_001378454.1(ALMS1):c.9539+10A>C
|
|
|
NM_001378454.1(ALMS1):c.9539+10A>G
|
rs1553409904
|
|
NM_001378454.1(ALMS1):c.9539+10_9539+12del
|
rs1572970962
|
|
NM_001378454.1(ALMS1):c.9539+11T>C
|
|
|
NM_001378454.1(ALMS1):c.9539+13G>C
|
rs369860432
|
|
NM_001378454.1(ALMS1):c.9539+13G>T
|
|
|
NM_001378454.1(ALMS1):c.9539+16A>C
|
|
|
NM_001378454.1(ALMS1):c.9539+18A>G
|
|
|
NM_001378454.1(ALMS1):c.9539+1G>T
|
rs1553409901
|
|
NM_001378454.1(ALMS1):c.9539+20C>T
|
rs759559244
|
|
NM_001378454.1(ALMS1):c.9539+7C>T
|
|
|
NM_001378454.1(ALMS1):c.9540-13_9540-12del
|
rs2103961762
|
|
NM_001378454.1(ALMS1):c.9540-15C>A
|
rs780375594
|
|
NM_001378454.1(ALMS1):c.9540-15C>G
|
|
|
NM_001378454.1(ALMS1):c.9540-15C>T
|
|
|
NM_001378454.1(ALMS1):c.9540-16del
|
rs765235024
|
|
NM_001378454.1(ALMS1):c.9540-18T>G
|
|
|
NM_001378454.1(ALMS1):c.9540-2A>G
|
|
|
NM_001378454.1(ALMS1):c.9540-7dup
|
rs750386293
|
|
NM_001378454.1(ALMS1):c.9546A>G (p.Pro3182=)
|
rs2103961813
|
|
NM_001378454.1(ALMS1):c.9546del (p.Glu3183fs)
|
rs2103961819
|
|
NM_001378454.1(ALMS1):c.9547_9549del (p.Glu3183del)
|
rs1553412739
|
|
NM_001378454.1(ALMS1):c.9549G>A (p.Glu3183=)
|
|
|
NM_001378454.1(ALMS1):c.9549del (p.Lys3184fs)
|
|
|
NM_001378454.1(ALMS1):c.9554T>C (p.Met3185Thr)
|
rs2103961851
|
|
NM_001378454.1(ALMS1):c.9555G>A (p.Met3185Ile)
|
|
|
NM_001378454.1(ALMS1):c.9564A>C (p.Pro3188=)
|
rs1398767200
|
|
NM_001378454.1(ALMS1):c.9566T>C (p.Leu3189Pro)
|
|
|
NM_001378454.1(ALMS1):c.956A>G (p.Asn319Ser)
|
|
|
NM_001378454.1(ALMS1):c.9573T>C (p.Ala3191=)
|
rs2103961933
|
|
NM_001378454.1(ALMS1):c.9576C>T (p.Phe3192=)
|
|
|
NM_001378454.1(ALMS1):c.9578C>T (p.Ser3193Phe)
|
|
|
NM_001378454.1(ALMS1):c.9584A>C (p.Lys3195Thr)
|
|
|
NM_001378454.1(ALMS1):c.9594T>C (p.Ser3198=)
|
|
|
NM_001378454.1(ALMS1):c.9598G>T (p.Ala3200Ser)
|
|
|
NM_001378454.1(ALMS1):c.9603C>T (p.Val3201=)
|
|
|
NM_001378454.1(ALMS1):c.9605C>T (p.Thr3202Ile)
|
|
|
NM_001378454.1(ALMS1):c.960T>C (p.Asn320=)
|
|
|
NM_001378454.1(ALMS1):c.9613ACA[1] (p.Thr3206del)
|
rs762803723
|
|
NM_001378454.1(ALMS1):c.9614C>G (p.Thr3205Arg)
|
|
|
NM_001378454.1(ALMS1):c.9615A>G (p.Thr3205=)
|
rs2103962093
|
|
NM_001378454.1(ALMS1):c.9616A>G (p.Thr3206Ala)
|
rs878853092
|
|
NM_001378454.1(ALMS1):c.9619_9620del (p.Glu3207fs)
|
|
|
NM_001378454.1(ALMS1):c.9629A>G (p.Glu3210Gly)
|
|
|
NM_001378454.1(ALMS1):c.9633G>T (p.Lys3211Asn)
|
rs373013570
|
|
NM_001378454.1(ALMS1):c.9636C>A (p.Thr3212=)
|
rs749283920
|
|
NM_001378454.1(ALMS1):c.9636C>G (p.Thr3212=)
|
rs749283920
|
|
NM_001378454.1(ALMS1):c.9636C>T (p.Thr3212=)
|
rs749283920
|
|
NM_001378454.1(ALMS1):c.9645A>T (p.Ser3215=)
|
|
|
NM_001378454.1(ALMS1):c.9654T>G (p.Ile3218Met)
|
|
|
NM_001378454.1(ALMS1):c.9658A>G (p.Ile3220Val)
|
rs760370290
|
|
NM_001378454.1(ALMS1):c.9659T>C (p.Ile3220Thr)
|
|
|
NM_001378454.1(ALMS1):c.9662A>G (p.Asn3221Ser)
|
rs1673639492
|
|
NM_001378454.1(ALMS1):c.9666T>C (p.Ala3222=)
|
|
|
NM_001378454.1(ALMS1):c.9666T>G (p.Ala3222=)
|
rs1264120847
|
|
NM_001378454.1(ALMS1):c.9673C>G (p.Arg3225Gly)
|
rs200215551
|
|
NM_001378454.1(ALMS1):c.9673C>T (p.Arg3225Cys)
|
rs200215551
|
|
NM_001378454.1(ALMS1):c.9675T>C (p.Arg3225=)
|
|
|
NM_001378454.1(ALMS1):c.9677G>A (p.Gly3226Glu)
|
rs1673640308
|
|
NM_001378454.1(ALMS1):c.9678A>G (p.Gly3226=)
|
rs1175450599
|
|
NM_001378454.1(ALMS1):c.9684A>C (p.Glu3228Asp)
|
|
|
NM_001378454.1(ALMS1):c.968C>G (p.Thr323Ser)
|
|
|
NM_001378454.1(ALMS1):c.9691G>A (p.Glu3231Lys)
|
|
|
NM_001378454.1(ALMS1):c.9696T>C (p.Pro3232=)
|
|
|
NM_001378454.1(ALMS1):c.9697G>C (p.Gly3233Arg)
|
rs757474886
|
|
NM_001378454.1(ALMS1):c.9699T>C (p.Gly3233=)
|
|
|
NM_001378454.1(ALMS1):c.96G>A (p.Ala32=)
|
|
|
NM_001378454.1(ALMS1):c.9700A>G (p.Asn3234Asp)
|
rs1673641556
|
|
NM_001378454.1(ALMS1):c.9701del (p.Asn3234fs)
|
rs1273296127
|
|
NM_001378454.1(ALMS1):c.9702C>T (p.Asn3234=)
|
|
|
NM_001378454.1(ALMS1):c.9709C>T (p.Leu3237=)
|
|
|
NM_001378454.1(ALMS1):c.970A>G (p.Ile324Val)
|
|
|
NM_001378454.1(ALMS1):c.9720T>A (p.Ala3240=)
|
rs2103962507
|
|
NM_001378454.1(ALMS1):c.9721C>A (p.Pro3241Thr)
|
rs746680944
|
|
NM_001378454.1(ALMS1):c.9723T>C (p.Pro3241=)
|
rs2103962527
|
|
NM_001378454.1(ALMS1):c.972T>C (p.Ile324=)
|
|
|
NM_001378454.1(ALMS1):c.9735C>T (p.Ala3245=)
|
|
|
NM_001378454.1(ALMS1):c.9738A>C (p.Ser3246=)
|
|
|
NM_001378454.1(ALMS1):c.9738A>G (p.Ser3246=)
|
|
|
NM_001378454.1(ALMS1):c.9738ATC[1] (p.Ser3249del)
|
|
|
NM_001378454.1(ALMS1):c.973T>C (p.Ser325Pro)
|
|
|
NM_001378454.1(ALMS1):c.9742T>C (p.Ser3248Pro)
|
|
|
NM_001378454.1(ALMS1):c.9743C>G (p.Ser3248Cys)
|
|
|
NM_001378454.1(ALMS1):c.9744T>G (p.Ser3248=)
|
|
|
NM_001378454.1(ALMS1):c.9747A>C (p.Ser3249=)
|
|
|
NM_001378454.1(ALMS1):c.9747A>G (p.Ser3249=)
|
rs2103962624
|
|
NM_001378454.1(ALMS1):c.9748_9749insCTC (p.Val3250delinsAlaLeu)
|
|
|
NM_001378454.1(ALMS1):c.974_981del (p.Ile324_Ser325insTer)
|
rs1671343808
|
|
NM_001378454.1(ALMS1):c.9751C>T (p.Gln3251Ter)
|
|
|
NM_001378454.1(ALMS1):c.9753A>G (p.Gln3251=)
|
rs1553412793
|
|
NM_001378454.1(ALMS1):c.9754_9755insCTC (p.Gln3251_Gln3252insPro)
|
rs766127195
|
|
NM_001378454.1(ALMS1):c.9760_9761dup (p.Phe3255fs)
|
rs1553412797
|
|
NM_001378454.1(ALMS1):c.9760_9764dup (p.Phe3255fs)
|
|
|
NM_001378454.1(ALMS1):c.9765T>C (p.Phe3255=)
|
|
|
NM_001378454.1(ALMS1):c.9767C>G (p.Ser3256Cys)
|
rs200922218
|
|
NM_001378454.1(ALMS1):c.976T>C (p.Ser326Pro)
|
|
|
NM_001378454.1(ALMS1):c.9771C>T (p.Arg3257=)
|
rs758325542
|
|
NM_001378454.1(ALMS1):c.9772G>T (p.Gly3258Cys)
|
rs769100528
|
|
NM_001378454.1(ALMS1):c.9773G>A (p.Gly3258Asp)
|
|
|
NM_001378454.1(ALMS1):c.9778G>A (p.Asp3260Asn)
|
|
|
NM_001378454.1(ALMS1):c.9779A>C (p.Asp3260Ala)
|
rs745518051
|
|
NM_001378454.1(ALMS1):c.9781+11G>A
|
rs970258030
|
|
NM_001378454.1(ALMS1):c.9781+17G>A
|
rs1673645390
|
|
NM_001378454.1(ALMS1):c.9781+19A>C
|
rs895296631
|
|
NM_001378454.1(ALMS1):c.9781+1G>C
|
|
|
NM_001378454.1(ALMS1):c.9781+5G>C
|
rs1553412803
|
|
NM_001378454.1(ALMS1):c.9781+7G>A
|
|
|
NM_001378454.1(ALMS1):c.9782-11dup
|
rs1553414055
|
|
NM_001378454.1(ALMS1):c.9782-1269_9859del
|
|
|
NM_001378454.1(ALMS1):c.9782-1271_9845del
|
|
|
NM_001378454.1(ALMS1):c.9782-18T>C
|
rs995894081
|
|
NM_001378454.1(ALMS1):c.9782-18T>G
|
rs995894081
|
|
NM_001378454.1(ALMS1):c.9782-1G>A
|
rs1673992163
|
|
NM_001378454.1(ALMS1):c.9782-6C>T
|
rs1414733616
|
|
NM_001378454.1(ALMS1):c.9782-8C>T
|
rs1553414061
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|
NM_001378454.1(ALMS1):c.9782-8del
|
|
|
NM_001378454.1(ALMS1):c.9782G>A (p.Gly3261Asp)
|
rs2103991983
|
|
NM_001378454.1(ALMS1):c.9783C>A (p.Gly3261=)
|
rs2103991992
|
|
NM_001378454.1(ALMS1):c.9785delinsGGCC (p.Gln3262delinsArgPro)
|
|
|
NM_001378454.1(ALMS1):c.9796T>C (p.Leu3266=)
|
rs2103992030
|
|
NM_001378454.1(ALMS1):c.9801A>C (p.Pro3267=)
|
|
|
NM_001378454.1(ALMS1):c.9801A>G (p.Pro3267=)
|
rs1673992639
|
|
NM_001378454.1(ALMS1):c.9804T>A (p.Tyr3268Ter)
|
rs368412850
|
|
NM_001378454.1(ALMS1):c.9804T>C (p.Tyr3268=)
|
rs368412850
|
|
NM_001378454.1(ALMS1):c.9805A>T (p.Lys3269Ter)
|
|
|
NM_001378454.1(ALMS1):c.9806A>C (p.Lys3269Thr)
|
|
|
NM_001378454.1(ALMS1):c.9809C>T (p.Pro3270Leu)
|
rs551032553
|
|
NM_001378454.1(ALMS1):c.9810T>C (p.Pro3270=)
|
|
|
NM_001378454.1(ALMS1):c.9814G>A (p.Gly3272Ser)
|
rs1673993273
|
|
NM_001378454.1(ALMS1):c.9815_9828del (p.Gly3272fs)
|
rs1553414071
|
|
NM_001378454.1(ALMS1):c.9822C>T (p.Thr3274=)
|
rs201446579
|
|
NM_001378454.1(ALMS1):c.9823A>G (p.Lys3275Glu)
|
|
|
NM_001378454.1(ALMS1):c.9823A>T (p.Lys3275Ter)
|
|
|
NM_001378454.1(ALMS1):c.9826A>G (p.Met3276Val)
|
|
|
NM_001378454.1(ALMS1):c.9827T>A (p.Met3276Lys)
|
rs1673993582
|
|
NM_001378454.1(ALMS1):c.9829_9832dup (p.Tyr3278fs)
|
rs1573000963
|
|
NM_001378454.1(ALMS1):c.9834T>A (p.Tyr3278Ter)
|
rs1573000972
|
|
NM_001378454.1(ALMS1):c.9840A>C (p.Pro3280=)
|
rs1392755260
|
|
NM_001378454.1(ALMS1):c.9841C>T (p.Gln3281Ter)
|
|
|
NM_001378454.1(ALMS1):c.9843A>G (p.Gln3281=)
|
rs1573000980
|
|
NM_001378454.1(ALMS1):c.9847A>C (p.Arg3283=)
|
rs1224859058
|
|
NM_001378454.1(ALMS1):c.9850C>T (p.Gln3284Ter)
|
|
|
NM_001378454.1(ALMS1):c.9858T>A (p.Pro3286=)
|
rs2103992260
|
|
NM_001378454.1(ALMS1):c.985G>T (p.Glu329Ter)
|
|
|
NM_001378454.1(ALMS1):c.985_986del (p.Glu329fs)
|
|
|
NM_001378454.1(ALMS1):c.9860C>T (p.Pro3287Leu)
|
|
|
NM_001378454.1(ALMS1):c.9861A>C (p.Pro3287=)
|
|
|
NM_001378454.1(ALMS1):c.9867G>C (p.Pro3289=)
|
|
|
NM_001378454.1(ALMS1):c.9870T>C (p.Asp3290=)
|
rs1673994711
|
|
NM_001378454.1(ALMS1):c.9875A>C (p.Lys3292Thr)
|
rs959966297
|
|
NM_001378454.1(ALMS1):c.9876A>G (p.Lys3292=)
|
rs1673995110
|
|
NM_001378454.1(ALMS1):c.9879A>G (p.Ser3293=)
|
rs2103992339
|
|
NM_001378454.1(ALMS1):c.9888C>G (p.Thr3296=)
|
|
|
NM_001378454.1(ALMS1):c.9889G>A (p.Val3297Ile)
|
|
|
NM_001378454.1(ALMS1):c.988C>T (p.Leu330=)
|
rs187880759
|
|
NM_001378454.1(ALMS1):c.9905C>G (p.Ser3302Ter)
|
rs1673996095
|
|
NM_001378454.1(ALMS1):c.9907+11G>A
|
|
|
NM_001378454.1(ALMS1):c.9907+16T>C
|
|
|
NM_001378454.1(ALMS1):c.9907+17A>G
|
rs772675597
|
|
NM_001378454.1(ALMS1):c.9907+17A>T
|
rs772675597
|
|
NM_001378454.1(ALMS1):c.9907+1G>A
|
|
|
NM_001378454.1(ALMS1):c.9907+20C>A
|
rs74730457
|
|
NM_001378454.1(ALMS1):c.9907+5T>G
|
rs1553414096
|
|
NM_001378454.1(ALMS1):c.9907+7T>C
|
rs375870610
|
|
NM_001378454.1(ALMS1):c.9908-10T>A
|
|
|
NM_001378454.1(ALMS1):c.9908-10T>G
|
|
|
NM_001378454.1(ALMS1):c.9908-13C>G
|
rs373325114
|
|
NM_001378454.1(ALMS1):c.9908-15C>G
|
rs1389556610
|
|
NM_001378454.1(ALMS1):c.9908-16C>A
|
|
|
NM_001378454.1(ALMS1):c.9908-4G>A
|
|
|
NM_001378454.1(ALMS1):c.9908-5T>G
|
|
|
NM_001378454.1(ALMS1):c.9908-6C>G
|
rs1553416191
|
|
NM_001378454.1(ALMS1):c.9908-6C>T
|
rs1553416191
|
|
NM_001378454.1(ALMS1):c.9911C>A (p.Ser3304Tyr)
|
|
|
NM_001378454.1(ALMS1):c.9911C>G (p.Ser3304Cys)
|
rs2104034683
|
|
NM_001378454.1(ALMS1):c.9917A>G (p.Asp3306Gly)
|
rs746138259
|
|
NM_001378454.1(ALMS1):c.9917A>T (p.Asp3306Val)
|
|
|
NM_001378454.1(ALMS1):c.9919_9923del (p.Ala3307fs)
|
|
|
NM_001378454.1(ALMS1):c.991A>G (p.Lys331Glu)
|
rs2103715291
|
|
NM_001378454.1(ALMS1):c.9922A>G (p.Ile3308Val)
|
|
|
NM_001378454.1(ALMS1):c.9932A>C (p.Asp3311Ala)
|
rs1553416202
|
|
NM_001378454.1(ALMS1):c.9939A>G (p.Pro3313=)
|
|
|
NM_001378454.1(ALMS1):c.993A>C (p.Lys331Asn)
|
rs1671344444
|
|
NM_001378454.1(ALMS1):c.993A>G (p.Lys331=)
|
|
|
NM_001378454.1(ALMS1):c.9945G>A (p.Gln3315=)
|
|
|
NM_001378454.1(ALMS1):c.9946G>A (p.Val3316Met)
|
|
|
NM_001378454.1(ALMS1):c.9948G>A (p.Val3316=)
|
|
|
NM_001378454.1(ALMS1):c.9951A>G (p.Leu3317=)
|
rs1573013141
|
|
NM_001378454.1(ALMS1):c.9957_9958dup (p.Arg3320fs)
|
|
|
NM_001378454.1(ALMS1):c.9962A>T (p.Asp3321Val)
|
|
|
NM_001378454.1(ALMS1):c.9968A>G (p.Asp3323Gly)
|
rs1573013147
|
|
NM_001378454.1(ALMS1):c.996T>C (p.Ile332=)
|
rs760947833
|
|
NM_001378454.1(ALMS1):c.9972C>T (p.Leu3324=)
|
|
|
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter)
|
rs754690894
|
|
NM_001378454.1(ALMS1):c.9976G>A (p.Ala3326Thr)
|
rs201213079
|
|
NM_001378454.1(ALMS1):c.9978C>T (p.Ala3326=)
|
|
|
NM_001378454.1(ALMS1):c.9980C>T (p.Thr3327Ile)
|
|
|
NM_001378454.1(ALMS1):c.9981T>C (p.Thr3327=)
|
|
|
NM_001378454.1(ALMS1):c.9981_9987dup (p.Ile3330delinsCysTer)
|
|
|
NM_001378454.1(ALMS1):c.9996_9997del (p.His3332fs)
|
|
|
NM_001378454.1(ALMS1):c.9999A>G (p.Lys3333=)
|
|
|
NM_001378454.1(ALMS1):c.9C>T (p.Pro3=)
|
rs570180164
|
|
NM_015120.4(ALMS1):c.-107G>A
|
rs886056292
|
|
NM_015120.4(ALMS1):c.-39CTC[4]
|
rs746980000
|
|
NM_015120.4(ALMS1):c.-39del
|
rs764473588
|
|
NM_015120.4(ALMS1):c.-48C>T
|
rs543687863
|
|
NM_015120.4(ALMS1):c.-78A>G
|
rs571728800
|
|
NM_015120.4(ALMS1):c.-91A>G
|
rs1670500821
|
|
NM_015120.4(ALMS1):c.10303delinsGA (p.Gln3435fs)
|
rs1060500034
|
|
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla)
|
rs746896173
|
|
NM_015120.4(ALMS1):c.11551del
|
rs1675622361
|
|
NM_015120.4(ALMS1):c.1577_1579dup (p.Pro526_Leu527insPro)
|
rs34628045
|
|
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del)
|
rs55889738
|
|
NM_015120.4(ALMS1):c.[3902C>A];[6436C>T]
|
|
|
NM_015120.4:c.(?_9911)_(11550_?)del
|
|
|
NM_015120.4:c.11054_11055ins[N[333];11041_11054]
|
|
|
Single allele
|
|
|