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.324+21G>A
|
rs11126399
|
0.27679
|
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.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.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.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.3942A>C (p.Ser1314=)
|
rs186449817
|
0.00065
|
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)
|
rs201390755
|
0.00065
|
NM_001378454.1(ALMS1):c.11223G>A (p.Glu3741=)
|
rs28730859
|
0.00061
|
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro)
|
rs202227966
|
0.00058
|
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln)
|
rs201673771
|
0.00058
|
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)
|
rs201252809
|
0.00057
|
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys)
|
rs201252375
|
0.00053
|
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala)
|
rs200467041
|
0.00051
|
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)
|
rs201819880
|
0.00048
|
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala)
|
rs200054604
|
0.00048
|
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser)
|
rs199917289
|
0.00045
|
NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp)
|
rs201874722
|
0.00044
|
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile)
|
rs200529564
|
0.00042
|
NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=)
|
rs35902379
|
0.00041
|
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val)
|
rs202111717
|
0.00041
|
NM_001378454.1(ALMS1):c.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.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.9781+19del
|
rs751238172
|
0.00029
|
NM_001378454.1(ALMS1):c.861C>T (p.Asp287=)
|
rs377281121
|
0.00028
|
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro)
|
rs201213079
|
0.00026
|
NM_001378454.1(ALMS1):c.-21C>T
|
rs530120421
|
0.00022
|
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp)
|
rs374663067
|
0.00022
|
NM_001378454.1(ALMS1):c.2536G>A (p.Gly846Arg)
|
rs201154998
|
0.00022
|
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu)
|
rs372619046
|
0.00022
|
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro)
|
rs201517720
|
0.00022
|
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln)
|
rs199615641
|
0.00022
|
NM_001378454.1(ALMS1):c.12362+17_12362+18del
|
rs768207589
|
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.7288A>C (p.Ser2430Arg)
|
rs539112266
|
0.00019
|
NM_001378454.1(ALMS1):c.8644C>T (p.Leu2882Phe)
|
rs373944325
|
0.00019
|
NM_001378454.1(ALMS1):c.8779C>A (p.Arg2927=)
|
rs376244626
|
0.00019
|
NM_001378454.1(ALMS1):c.2893T>C (p.Tyr965His)
|
rs201180147
|
0.00018
|
NM_001378454.1(ALMS1):c.649A>G (p.Ile217Val)
|
rs200944504
|
0.00018
|
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.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.8108C>T (p.Pro2703Leu)
|
rs199604280
|
0.00015
|
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val)
|
rs202228570
|
0.00015
|
NM_001378454.1(ALMS1):c.9633G>A (p.Lys3211=)
|
rs373013570
|
0.00014
|
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.4394C>T (p.Thr1465Met)
|
rs200980776
|
0.00013
|
NM_001378454.1(ALMS1):c.646+15T>G
|
rs200821435
|
0.00013
|
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.1976C>T (p.Thr659Met)
|
rs199682595
|
0.00011
|
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu)
|
rs187132771
|
0.00011
|
NM_001378454.1(ALMS1):c.1867T>C (p.Ser623Pro)
|
rs767987501
|
0.00010
|
NM_001378454.1(ALMS1):c.3103C>T (p.Pro1035Ser)
|
rs531648685
|
0.00010
|
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp)
|
rs199615803
|
0.00010
|
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=)
|
rs371511963
|
0.00010
|
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=)
|
rs367862140
|
0.00010
|
NM_001378454.1(ALMS1):c.3395A>G (p.Gln1132Arg)
|
rs202114540
|
0.00009
|
NM_001378454.1(ALMS1):c.5982G>A (p.Glu1994=)
|
rs186849322
|
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.11748G>A (p.Glu3916=)
|
rs373364340
|
0.00007
|
NM_001378454.1(ALMS1):c.12362G>A (p.Arg4121Gln)
|
rs376602261
|
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.9449G>A (p.Ser3150Asn)
|
rs34029285
|
0.00007
|
NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp)
|
rs573748379
|
0.00006
|
NM_001378454.1(ALMS1):c.1237+9C>G
|
rs201471551
|
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.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.4405C>A (p.Pro1469Thr)
|
rs373638043
|
0.00006
|
NM_001378454.1(ALMS1):c.9495C>T (p.Phe3165=)
|
rs45607436
|
0.00006
|
NM_001378454.1(ALMS1):c.1710A>C (p.Val570=)
|
rs201095989
|
0.00005
|
NM_001378454.1(ALMS1):c.2874C>T (p.Ser958=)
|
rs541122374
|
0.00005
|
NM_001378454.1(ALMS1):c.3860C>T (p.Ser1287Leu)
|
rs375231416
|
0.00005
|
NM_001378454.1(ALMS1):c.4857A>G (p.Ala1619=)
|
rs367772965
|
0.00005
|
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala)
|
rs770424780
|
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.6299A>T (p.Lys2100Ile)
|
rs373286582
|
0.00005
|
NM_001378454.1(ALMS1):c.8961T>A (p.Leu2987=)
|
rs201937708
|
0.00005
|
NM_001378454.1(ALMS1):c.9733G>A (p.Ala3245Thr)
|
rs200432874
|
0.00005
|
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.11463G>A (p.Glu3821=)
|
rs750087396
|
0.00004
|
NM_001378454.1(ALMS1):c.1238-9A>G
|
rs372652836
|
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.1695T>C (p.Thr565=)
|
rs368992526
|
0.00004
|
NM_001378454.1(ALMS1):c.3319T>C (p.Tyr1107His)
|
rs746162373
|
0.00004
|
NM_001378454.1(ALMS1):c.4324G>T (p.Val1442Phe)
|
rs375842278
|
0.00004
|
NM_001378454.1(ALMS1):c.451-5T>G
|
rs774098604
|
0.00004
|
NM_001378454.1(ALMS1):c.5355T>G (p.Val1785=)
|
rs1420283861
|
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.7464A>G (p.Gln2488=)
|
rs765766155
|
0.00004
|
NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln)
|
rs778162209
|
0.00004
|
NM_001378454.1(ALMS1):c.9782-19C>A
|
rs777706370
|
0.00004
|
NM_001378454.1(ALMS1):c.11283C>T (p.Val3761=)
|
rs183916999
|
0.00003
|
NM_001378454.1(ALMS1):c.11696A>G (p.Lys3899Arg)
|
rs1347288383
|
0.00003
|
NM_001378454.1(ALMS1):c.11798G>A (p.Arg3933His)
|
rs45576434
|
0.00003
|
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=)
|
rs750362630
|
0.00003
|
NM_001378454.1(ALMS1):c.2196C>T (p.Asp732=)
|
rs754758293
|
0.00003
|
NM_001378454.1(ALMS1):c.2515G>A (p.Ala839Thr)
|
rs1356972872
|
0.00003
|
NM_001378454.1(ALMS1):c.3076G>C (p.Ala1026Pro)
|
rs201451396
|
0.00003
|
NM_001378454.1(ALMS1):c.3484A>G (p.Thr1162Ala)
|
rs763680884
|
0.00003
|
NM_001378454.1(ALMS1):c.5909T>C (p.Val1970Ala)
|
rs765405386
|
0.00003
|
NM_001378454.1(ALMS1):c.6379C>T (p.Pro2127Ser)
|
rs771800459
|
0.00003
|
NM_001378454.1(ALMS1):c.6976A>G (p.Ser2326Gly)
|
rs560736902
|
0.00003
|
NM_001378454.1(ALMS1):c.7199G>A (p.Gly2400Glu)
|
rs373985919
|
0.00003
|
NM_001378454.1(ALMS1):c.7892C>T (p.Ala2631Val)
|
rs1027248513
|
0.00003
|
NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser)
|
rs553507775
|
0.00003
|
NM_001378454.1(ALMS1):c.10020G>A (p.Arg3340=)
|
rs746166271
|
0.00002
|
NM_001378454.1(ALMS1):c.10261C>A (p.Pro3421Thr)
|
rs763306448
|
0.00002
|
NM_001378454.1(ALMS1):c.10817G>A (p.Arg3606Gln)
|
rs148044176
|
0.00002
|
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr)
|
rs45630562
|
0.00002
|
NM_001378454.1(ALMS1):c.12321C>T (p.Asn4107=)
|
rs767420244
|
0.00002
|
NM_001378454.1(ALMS1):c.1731T>C (p.His577=)
|
rs768761501
|
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.3048G>A (p.Glu1016=)
|
rs765275016
|
0.00002
|
NM_001378454.1(ALMS1):c.3591A>G (p.Lys1197=)
|
rs773852068
|
0.00002
|
NM_001378454.1(ALMS1):c.3881G>C (p.Ser1294Thr)
|
rs373835067
|
0.00002
|
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala)
|
rs760866713
|
0.00002
|
NM_001378454.1(ALMS1):c.4314C>T (p.Phe1438=)
|
rs541180403
|
0.00002
|
NM_001378454.1(ALMS1):c.6441A>G (p.Lys2147=)
|
rs776254949
|
0.00002
|
NM_001378454.1(ALMS1):c.7541-6C>T
|
rs1408073039
|
0.00002
|
NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu)
|
rs996036496
|
0.00002
|
NM_001378454.1(ALMS1):c.9075A>G (p.Pro3025=)
|
rs1278648561
|
0.00002
|
NM_001378454.1(ALMS1):c.9324A>G (p.Ala3108=)
|
rs747570402
|
0.00002
|
NM_001378454.1(ALMS1):c.9708G>A (p.Lys3236=)
|
rs574095166
|
0.00002
|
NM_001378454.1(ALMS1):c.9928C>T (p.Pro3310Ser)
|
rs775666186
|
0.00002
|
NM_001378454.1(ALMS1):c.10058C>G (p.Pro3353Arg)
|
rs760647310
|
0.00001
|
NM_001378454.1(ALMS1):c.10078+2dup
|
rs755740074
|
0.00001
|
NM_001378454.1(ALMS1):c.10526A>G (p.His3509Arg)
|
rs1674949532
|
0.00001
|
NM_001378454.1(ALMS1):c.11073G>A (p.Glu3691=)
|
rs1421582809
|
0.00001
|
NM_001378454.1(ALMS1):c.11143A>G (p.Lys3715Glu)
|
rs765505349
|
0.00001
|
NM_001378454.1(ALMS1):c.1126A>T (p.Thr376Ser)
|
rs376750978
|
0.00001
|
NM_001378454.1(ALMS1):c.11310T>C (p.Asp3770=)
|
rs1438099503
|
0.00001
|
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn)
|
rs767078704
|
0.00001
|
NM_001378454.1(ALMS1):c.11560G>A (p.Val3854Met)
|
rs757475077
|
0.00001
|
NM_001378454.1(ALMS1):c.1197A>G (p.Thr399=)
|
rs756136557
|
0.00001
|
NM_001378454.1(ALMS1):c.12299-19C>T
|
rs1553422031
|
0.00001
|
NM_001378454.1(ALMS1):c.12463-14C>G
|
rs766656843
|
0.00001
|
NM_001378454.1(ALMS1):c.1521A>C (p.Gly507=)
|
rs760374410
|
0.00001
|
NM_001378454.1(ALMS1):c.1707A>G (p.Thr569=)
|
rs752130351
|
0.00001
|
NM_001378454.1(ALMS1):c.1717A>G (p.Ser573Gly)
|
rs143478466
|
0.00001
|
NM_001378454.1(ALMS1):c.1927G>A (p.Glu643Lys)
|
rs769734500
|
0.00001
|
NM_001378454.1(ALMS1):c.2136C>T (p.Leu712=)
|
rs747504060
|
0.00001
|
NM_001378454.1(ALMS1):c.2191G>A (p.Ala731Thr)
|
rs1337404560
|
0.00001
|
NM_001378454.1(ALMS1):c.2322C>T (p.Tyr774=)
|
rs752503817
|
0.00001
|
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala)
|
rs772260271
|
0.00001
|
NM_001378454.1(ALMS1):c.2472C>G (p.Ala824=)
|
rs368270850
|
0.00001
|
NM_001378454.1(ALMS1):c.3062A>T (p.Tyr1021Phe)
|
rs574757598
|
0.00001
|
NM_001378454.1(ALMS1):c.3266C>G (p.Thr1089Arg)
|
rs556855697
|
0.00001
|
NM_001378454.1(ALMS1):c.3268C>G (p.Pro1090Ala)
|
rs376232524
|
0.00001
|
NM_001378454.1(ALMS1):c.3407C>T (p.Thr1136Ile)
|
rs756805885
|
0.00001
|
NM_001378454.1(ALMS1):c.4181A>G (p.Gln1394Arg)
|
rs368955191
|
0.00001
|
NM_001378454.1(ALMS1):c.4454T>C (p.Ile1485Thr)
|
rs564400636
|
0.00001
|
NM_001378454.1(ALMS1):c.4709C>T (p.Ser1570Phe)
|
rs765461259
|
0.00001
|
NM_001378454.1(ALMS1):c.4765C>A (p.His1589Asn)
|
rs771703863
|
0.00001
|
NM_001378454.1(ALMS1):c.4789G>A (p.Val1597Ile)
|
rs759914299
|
0.00001
|
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala)
|
rs546111188
|
0.00001
|
NM_001378454.1(ALMS1):c.5575A>G (p.Ile1859Val)
|
rs1558650343
|
0.00001
|
NM_001378454.1(ALMS1):c.5887G>A (p.Glu1963Lys)
|
rs45484791
|
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.6629A>T (p.Asn2210Ile)
|
rs1026749292
|
0.00001
|
NM_001378454.1(ALMS1):c.7067C>T (p.Ser2356Leu)
|
rs757852651
|
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.7559A>G (p.Asn2520Ser)
|
rs377085127
|
0.00001
|
NM_001378454.1(ALMS1):c.7743C>T (p.Ser2581=)
|
rs370740871
|
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.8138C>T (p.Thr2713Ile)
|
rs1672944551
|
0.00001
|
NM_001378454.1(ALMS1):c.8421A>G (p.Gln2807=)
|
rs774574310
|
0.00001
|
NM_001378454.1(ALMS1):c.8655A>G (p.Arg2885=)
|
rs377249623
|
0.00001
|
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=)
|
rs777796888
|
0.00001
|
NM_001378454.1(ALMS1):c.901A>C (p.Ile301Leu)
|
rs534913971
|
0.00001
|
NM_001378454.1(ALMS1):c.9073C>A (p.Pro3025Thr)
|
rs773480197
|
0.00001
|
NM_001378454.1(ALMS1):c.9138T>C (p.Cys3046=)
|
rs779818117
|
0.00001
|
NM_001378454.1(ALMS1):c.9318T>G (p.Pro3106=)
|
rs771679163
|
0.00001
|
NM_001378454.1(ALMS1):c.9392C>T (p.Ser3131Phe)
|
rs144588413
|
0.00001
|
NM_001378454.1(ALMS1):c.953G>A (p.Gly318Glu)
|
rs372886271
|
0.00001
|
NM_001378454.1(ALMS1):c.9545C>T (p.Pro3182Leu)
|
rs1475730829
|
0.00001
|
NM_001378454.1(ALMS1):c.9553A>T (p.Met3185Leu)
|
rs1421714540
|
0.00001
|
NM_001378454.1(ALMS1):c.9639A>G (p.Leu3213=)
|
rs566943393
|
0.00001
|
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe)
|
rs771768835
|
0.00001
|
NM_001378454.1(ALMS1):c.9693G>A (p.Glu3231=)
|
rs764518519
|
0.00001
|
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=)
|
rs370267673
|
0.00001
|
NM_001378454.1(ALMS1):c.9781+19A>G
|
rs895296631
|
0.00001
|
NM_001378454.1(ALMS1):c.9867G>A (p.Pro3289=)
|
rs773900415
|
0.00001
|
NM_001378454.1(ALMS1):c.9871T>C (p.Ser3291Pro)
|
rs759591871
|
0.00001
|
NM_001378454.1(ALMS1):c.9897C>T (p.Ser3299=)
|
rs1217540541
|
0.00001
|
NC_000002.11:g.(73682423_73716760)_(73762077_73777393)dup
|
|
|
NM_001378454.1(ALMS1):c.10051G>C (p.Glu3351Gln)
|
|
|
NM_001378454.1(ALMS1):c.10213+12G>A
|
rs527508238
|
|
NM_001378454.1(ALMS1):c.10213+7A>G
|
rs1553416882
|
|
NM_001378454.1(ALMS1):c.10214-12dup
|
rs543855806
|
|
NM_001378454.1(ALMS1):c.10462G>T (p.Val3488Leu)
|
rs1057523167
|
|
NM_001378454.1(ALMS1):c.10572A>G (p.Glu3524=)
|
rs1335438080
|
|
NM_001378454.1(ALMS1):c.10577T>G (p.Met3526Arg)
|
|
|
NM_001378454.1(ALMS1):c.10827G>C (p.Gln3609His)
|
rs2104105279
|
|
NM_001378454.1(ALMS1):c.10869G>C (p.Leu3623=)
|
rs775336312
|
|
NM_001378454.1(ALMS1):c.10870T>C (p.Ser3624Pro)
|
rs1573030477
|
|
NM_001378454.1(ALMS1):c.10928C>G (p.Ser3643Cys)
|
|
|
NM_001378454.1(ALMS1):c.1093G>A (p.Asp365Asn)
|
rs1229379546
|
|
NM_001378454.1(ALMS1):c.11045_11056del (p.Leu3682_Ser3685del)
|
rs757734472
|
|
NM_001378454.1(ALMS1):c.1123A>T (p.Ile375Leu)
|
rs886038611
|
|
NM_001378454.1(ALMS1):c.11316G>T (p.Glu3772Asp)
|
rs1019748558
|
|
NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys)
|
rs3813227
|
|
NM_001378454.1(ALMS1):c.12362+16_12362+17del
|
rs563514664
|
|
NM_001378454.1(ALMS1):c.12362+16_12362+18delinsT
|
|
|
NM_001378454.1(ALMS1):c.12362+16_12362+27delinsTGAGTTTGTG
|
rs1064795877
|
|
NM_001378454.1(ALMS1):c.12362+16_12362+29delinsTGAGTTTGTGTG
|
rs1064795814
|
|
NM_001378454.1(ALMS1):c.12362+17_12362+27delinsGAGTTTGTG
|
rs1064796118
|
|
NM_001378454.1(ALMS1):c.12398_12401del (p.Arg4133fs)
|
rs761223068
|
|
NM_001378454.1(ALMS1):c.12411_12415del (p.Arg4138fs)
|
rs2104216255
|
|
NM_001378454.1(ALMS1):c.12448C>T (p.Gln4150Ter)
|
rs2104216417
|
|
NM_001378454.1(ALMS1):c.1245G>T (p.Leu415=)
|
rs1553400953
|
|
NM_001378454.1(ALMS1):c.12475C>T (p.Gln4159Ter)
|
|
|
NM_001378454.1(ALMS1):c.12481C>T (p.Leu4161=)
|
|
|
NM_001378454.1(ALMS1):c.1399A>T (p.Thr467Ser)
|
|
|
NM_001378454.1(ALMS1):c.1433-64dup
|
rs66492706
|
|
NM_001378454.1(ALMS1):c.1433-9_1433-8insCTT
|
rs1064795791
|
|
NM_001378454.1(ALMS1):c.1570_1572dup (p.Ser524dup)
|
rs797045226
|
|
NM_001378454.1(ALMS1):c.1571CTC[1] (p.Pro525del)
|
rs34628045
|
|
NM_001378454.1(ALMS1):c.2008T>A (p.Ser670Thr)
|
|
|
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly)
|
rs115444326
|
|
NM_001378454.1(ALMS1):c.207C>T (p.Asp69=)
|
rs752874408
|
|
NM_001378454.1(ALMS1):c.2199T>A (p.Ser733Arg)
|
rs1671860790
|
|
NM_001378454.1(ALMS1):c.234C>G (p.Ala78=)
|
rs368947491
|
|
NM_001378454.1(ALMS1):c.2416G>C (p.Val806Leu)
|
rs138921247
|
|
NM_001378454.1(ALMS1):c.2436A>G (p.Ser812=)
|
rs925267503
|
|
NM_001378454.1(ALMS1):c.2471C>A (p.Ala824Asp)
|
rs754424459
|
|
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=)
|
rs77517267
|
|
NM_001378454.1(ALMS1):c.2555C>T (p.Ala852Val)
|
|
|
NM_001378454.1(ALMS1):c.2726C>T (p.Ser909Leu)
|
rs746640196
|
|
NM_001378454.1(ALMS1):c.3091A>G (p.Thr1031Ala)
|
|
|
NM_001378454.1(ALMS1):c.3323A>C (p.Gln1108Pro)
|
rs570286860
|
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NM_001378454.1(ALMS1):c.3325C>A (p.Gln1109Lys)
|
rs1671890891
|
|
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile)
|
rs752342634
|
|
NM_001378454.1(ALMS1):c.3690G>A (p.Gly1230=)
|
rs1057523614
|
|
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[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[19] (p.Glu23_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.36GGA[8] (p.Glu24_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36_74= (p.Leu12_Glu25=)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.3730A>G (p.Lys1244Glu)
|
rs757303904
|
|
NM_001378454.1(ALMS1):c.3731A>T (p.Lys1244Met)
|
rs1671903375
|
|
NM_001378454.1(ALMS1):c.3763G>C (p.Asp1255His)
|
|
|
NM_001378454.1(ALMS1):c.384A>G (p.Thr128=)
|
rs1671018024
|
|
NM_001378454.1(ALMS1):c.3922G>A (p.Glu1308Lys)
|
|
|
NM_001378454.1(ALMS1):c.4084G>C (p.Val1362Leu)
|
rs534858351
|
|
NM_001378454.1(ALMS1):c.4111A>G (p.Thr1371Ala)
|
rs1572934899
|
|
NM_001378454.1(ALMS1):c.4238G>C (p.Gly1413Ala)
|
rs886038612
|
|
NM_001378454.1(ALMS1):c.45G>A (p.Glu15=)
|
rs1558624512
|
|
NM_001378454.1(ALMS1):c.4601A>G (p.Tyr1534Cys)
|
rs751003573
|
|
NM_001378454.1(ALMS1):c.4713C>T (p.Tyr1571=)
|
rs2103783750
|
|
NM_001378454.1(ALMS1):c.4808C>G (p.Pro1603Arg)
|
rs1572935792
|
|
NM_001378454.1(ALMS1):c.4824_4826del (p.Asp1609del)
|
rs1057518311
|
|
NM_001378454.1(ALMS1):c.4989T>C (p.Thr1663=)
|
rs774538998
|
|
NM_001378454.1(ALMS1):c.5088A>C (p.Gly1696=)
|
rs2103785042
|
|
NM_001378454.1(ALMS1):c.5111C>T (p.Thr1704Ile)
|
rs755683870
|
|
NM_001378454.1(ALMS1):c.5183A>G (p.Asp1728Gly)
|
rs879255405
|
|
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu)
|
rs962844498
|
|
NM_001378454.1(ALMS1):c.5362G>A (p.Val1788Ile)
|
rs1224043321
|
|
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile)
|
rs1131691296
|
|
NM_001378454.1(ALMS1):c.5394A>G (p.Val1798=)
|
rs1269563462
|
|
NM_001378454.1(ALMS1):c.5440G>T (p.Val1814Phe)
|
|
|
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu)
|
rs200925575
|
|
NM_001378454.1(ALMS1):c.5457G>A (p.Glu1819=)
|
rs886038613
|
|
NM_001378454.1(ALMS1):c.5496A>G (p.Arg1832=)
|
rs1572936704
|
|
NM_001378454.1(ALMS1):c.557A>T (p.Asp186Val)
|
rs375830111
|
|
NM_001378454.1(ALMS1):c.5602C>A (p.Leu1868Ile)
|
rs1553404102
|
|
NM_001378454.1(ALMS1):c.5620A>G (p.Lys1874Glu)
|
rs886038614
|
|
NM_001378454.1(ALMS1):c.5634T>C (p.Val1878=)
|
rs1057524275
|
|
NM_001378454.1(ALMS1):c.5828G>T (p.Arg1943Leu)
|
rs146669152
|
|
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.6304A>C (p.Asn2102His)
|
rs1386959032
|
|
NM_001378454.1(ALMS1):c.63G>A (p.Glu21=)
|
rs1004961829
|
|
NM_001378454.1(ALMS1):c.6523G>A (p.Ala2175Thr)
|
rs1572937937
|
|
NM_001378454.1(ALMS1):c.65_66insAGA (p.Glu28dup)
|
rs1553396148
|
|
NM_001378454.1(ALMS1):c.668C>A (p.Ser223Tyr)
|
rs886038615
|
|
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.6824A>G (p.Lys2275Arg)
|
rs1057518307
|
|
NM_001378454.1(ALMS1):c.6854G>T (p.Arg2285Leu)
|
rs6546839
|
|
NM_001378454.1(ALMS1):c.6864T>G (p.Asp2288Glu)
|
rs2103791762
|
|
NM_001378454.1(ALMS1):c.68_69insAGAGGA (p.Glu27_Glu28dup)
|
rs756301830
|
|
NM_001378454.1(ALMS1):c.7193C>T (p.Thr2398Ile)
|
rs200470452
|
|
NM_001378454.1(ALMS1):c.7331T>A (p.Leu2444Gln)
|
|
|
NM_001378454.1(ALMS1):c.7377C>T (p.Ser2459=)
|
rs867561704
|
|
NM_001378454.1(ALMS1):c.7414G>C (p.Gly2472Arg)
|
rs1672006091
|
|
NM_001378454.1(ALMS1):c.7473C>T (p.Ser2491=)
|
rs1572938980
|
|
NM_001378454.1(ALMS1):c.75_80del (p.Glu27_Glu28del)
|
rs754175473
|
|
NM_001378454.1(ALMS1):c.764+17G>T
|
rs1057524596
|
|
NM_001378454.1(ALMS1):c.764+18C>T
|
rs1553400459
|
|
NM_001378454.1(ALMS1):c.7675-13_7675-10del
|
|
|
NM_001378454.1(ALMS1):c.77_85del (p.Glu26_Glu28del)
|
rs797045229
|
|
NM_001378454.1(ALMS1):c.7836G>A (p.Met2612Ile)
|
|
|
NM_001378454.1(ALMS1):c.8114C>T (p.Pro2705Leu)
|
|
|
NM_001378454.1(ALMS1):c.8122A>G (p.Met2708Val)
|
rs371904071
|
|
NM_001378454.1(ALMS1):c.8160C>T (p.His2720=)
|
rs992844961
|
|
NM_001378454.1(ALMS1):c.8211T>C (p.Thr2737=)
|
rs759935089
|
|
NM_001378454.1(ALMS1):c.8224T>G (p.Cys2742Gly)
|
rs774945791
|
|
NM_001378454.1(ALMS1):c.8268A>G (p.Glu2756=)
|
rs886038616
|
|
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala)
|
rs369650940
|
|
NM_001378454.1(ALMS1):c.8345A>G (p.Asp2782Gly)
|
rs1672950843
|
|
NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=)
|
rs886038617
|
|
NM_001378454.1(ALMS1):c.8721T>C (p.Ser2907=)
|
rs1386201636
|
|
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg)
|
rs574785830
|
|
NM_001378454.1(ALMS1):c.8898T>A (p.Leu2966=)
|
rs1572970207
|
|
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup)
|
rs746896173
|
|
NM_001378454.1(ALMS1):c.9304T>C (p.Leu3102=)
|
rs537370242
|
|
NM_001378454.1(ALMS1):c.942T>C (p.Pro314=)
|
rs886038618
|
|
NM_001378454.1(ALMS1):c.9540-11T>C
|
|
|
NM_001378454.1(ALMS1):c.9914A>T (p.Asn3305Ile)
|
|
|
NM_015120.4(ALMS1):c.-45C>G
|
rs539250179
|
|
NM_015120.4(ALMS1):c.1577_1579dup (p.Pro526_Leu527insPro)
|
rs34628045
|
|