NM_001378454.1(ALMS1):c.2015T>G (p.Val672Gly)
|
rs2037814
|
0.87820
|
NM_001378454.1(ALMS1):c.764+20T>A
|
rs1881246
|
0.49506
|
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=)
|
rs7598901
|
0.49457
|
NM_001378454.1(ALMS1):c.6336T>A (p.Ser2112Arg)
|
rs6724782
|
0.40522
|
NM_001378454.1(ALMS1):c.5626A>G (p.Ile1876Val)
|
rs6546838
|
0.40153
|
NM_001378454.1(ALMS1):c.8481G>T (p.Arg2827Ser)
|
rs2056486
|
0.39967
|
NM_001378454.1(ALMS1):c.8570A>G (p.Asn2857Ser)
|
rs10193972
|
0.39950
|
NM_001378454.1(ALMS1):c.4244G>C (p.Gly1415Ala)
|
rs6546837
|
0.39736
|
NM_001378454.1(ALMS1):c.9782-70G>A
|
rs3738848
|
0.39439
|
NM_001378454.1(ALMS1):c.4179A>G (p.Gln1393=)
|
rs6546836
|
0.38173
|
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro)
|
rs6546839
|
0.38002
|
NM_001378454.1(ALMS1):c.9540-259T>C
|
rs6711033
|
0.33751
|
NM_001378454.1(ALMS1):c.9907+160A>G
|
rs10178678
|
0.31362
|
NM_001378454.1(ALMS1):c.9561C>T (p.Thr3187=)
|
rs11884776
|
0.30410
|
NM_001378454.1(ALMS1):c.324+21G>A
|
rs11126399
|
0.27679
|
NM_001378454.1(ALMS1):c.*267T>A
|
rs62149804
|
0.14287
|
NM_001378454.1(ALMS1):c.6212T>C (p.Ile2071Thr)
|
rs10496192
|
0.13807
|
NM_001378454.1(ALMS1):c.7724G>A (p.Ser2575Asn)
|
rs3820700
|
0.13432
|
NM_001378454.1(ALMS1):c.8017G>C (p.Asp2673His)
|
rs2017116
|
0.13007
|
NM_001378454.1(ALMS1):c.12362+24C>T
|
rs114375547
|
0.07593
|
NM_001378454.1(ALMS1):c.12362+27A>G
|
rs17848872
|
0.07583
|
NM_001378454.1(ALMS1):c.12362+23A>T
|
rs116733486
|
0.07580
|
NM_001378454.1(ALMS1):c.3894A>G (p.Gln1298=)
|
rs112034360
|
0.06109
|
NM_001378454.1(ALMS1):c.9907+309G>A
|
rs34032338
|
0.05370
|
NM_001378454.1(ALMS1):c.9782-9C>T
|
rs10199680
|
0.03656
|
NM_001378454.1(ALMS1):c.11668+119A>G
|
rs11901974
|
0.02703
|
NM_001378454.1(ALMS1):c.12362+57C>T
|
rs116327057
|
0.02512
|
NM_001378454.1(ALMS1):c.9908-221A>G
|
rs138390176
|
0.02395
|
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn)
|
rs11896293
|
0.02293
|
NM_001378454.1(ALMS1):c.5786G>A (p.Arg1929Gln)
|
rs17009061
|
0.02260
|
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn)
|
rs28730853
|
0.02251
|
NM_001378454.1(ALMS1):c.10209T>A (p.Thr3403=)
|
rs34617744
|
0.02246
|
NM_001378454.1(ALMS1):c.9907+20C>T
|
rs74730457
|
0.02147
|
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser)
|
rs34927702
|
0.02105
|
NM_001378454.1(ALMS1):c.11523G>A (p.Glu3841=)
|
rs35760114
|
0.02099
|
NM_001378454.1(ALMS1):c.7541-163A>G
|
rs76317790
|
0.01787
|
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg)
|
rs115517108
|
0.01785
|
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu)
|
rs34071195
|
0.01772
|
NM_001378454.1(ALMS1):c.5169A>G (p.Gln1723=)
|
rs75434052
|
0.01769
|
NM_001378454.1(ALMS1):c.10335C>T (p.Pro3445=)
|
rs78108069
|
0.01749
|
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His)
|
rs11889925
|
0.01714
|
NM_001378454.1(ALMS1):c.2319G>A (p.Leu773=)
|
rs28730851
|
0.01669
|
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg)
|
rs41291187
|
0.01638
|
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp)
|
rs45608038
|
0.01548
|
NM_001378454.1(ALMS1):c.9540-305C>G
|
rs115031007
|
0.01537
|
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala)
|
rs28730849
|
0.01527
|
NM_001378454.1(ALMS1):c.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.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.8546G>A (p.Arg2849Lys)
|
rs200009686
|
0.00093
|
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.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.8942A>G (p.Asn2981Ser)
|
rs200390821
|
0.00057
|
NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp)
|
rs201874722
|
0.00044
|
NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=)
|
rs35902379
|
0.00041
|
NM_001378454.1(ALMS1):c.3307C>G (p.Pro1103Ala)
|
rs200257398
|
0.00038
|
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly)
|
rs184779459
|
0.00032
|
NM_001378454.1(ALMS1):c.1338+19A>G
|
rs145633676
|
0.00031
|
NM_001378454.1(ALMS1):c.861C>T (p.Asp287=)
|
rs377281121
|
0.00028
|
NM_001378454.1(ALMS1):c.2536G>A (p.Gly846Arg)
|
rs201154998
|
0.00022
|
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro)
|
rs201517720
|
0.00022
|
NM_001378454.1(ALMS1):c.11772T>C (p.Asp3924=)
|
rs201924342
|
0.00021
|
NM_001378454.1(ALMS1):c.74_75insGG (p.Glu27fs)
|
rs1553396120
|
0.00018
|
NM_001378454.1(ALMS1):c.646+15T>G
|
rs200821435
|
0.00013
|
NM_001378454.1(ALMS1):c.109G>C (p.Val37Leu)
|
rs774784126
|
0.00011
|
NM_001378454.1(ALMS1):c.7140A>G (p.Gln2380=)
|
rs375593700
|
0.00008
|
NM_001378454.1(ALMS1):c.11283C>T (p.Val3761=)
|
rs183916999
|
0.00003
|
NM_001378454.1(ALMS1):c.12363-18A>C
|
rs199968770
|
0.00003
|
NM_001378454.1(ALMS1):c.11550A>G (p.Val3850=)
|
rs45630561
|
0.00002
|
NM_001378454.1(ALMS1):c.228C>G (p.Ala76=)
|
rs755847221
|
0.00002
|
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly)
|
rs746702722
|
0.00001
|
NM_001378454.1(ALMS1):c.3266C>G (p.Thr1089Arg)
|
rs556855697
|
0.00001
|
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala)
|
rs546111188
|
0.00001
|
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly)
|
rs563393715
|
0.00001
|
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=)
|
rs370267673
|
0.00001
|
NM_001378454.1(ALMS1):c.10213+12G>A
|
rs527508238
|
|
NM_001378454.1(ALMS1):c.10214-12dup
|
rs543855806
|
|
NM_001378454.1(ALMS1):c.10384+173TA[8]
|
rs10684777
|
|
NM_001378454.1(ALMS1):c.10385-239C>A
|
rs6725385
|
|
NM_001378454.1(ALMS1):c.11117C>G (p.Ser3706Cys)
|
rs533965968
|
|
NM_001378454.1(ALMS1):c.11481C>G (p.Ser3827Arg)
|
rs549156484
|
|
NM_001378454.1(ALMS1):c.11548-11del
|
|
|
NM_001378454.1(ALMS1):c.11548-5del
|
rs775257923
|
|
NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys)
|
rs3813227
|
|
NM_001378454.1(ALMS1):c.12362+162dup
|
rs59142434
|
|
NM_001378454.1(ALMS1):c.12362+16_12362+17del
|
rs563514664
|
|
NM_001378454.1(ALMS1):c.12362+16_12362+18delinsT
|
|
|
NM_001378454.1(ALMS1):c.12362+16_12362+27delinsTGAGTTTGTG
|
rs1064795877
|
|
NM_001378454.1(ALMS1):c.1432+171_1432+813del
|
|
|
NM_001378454.1(ALMS1):c.1433-12_1433-10dup
|
rs1064795386
|
|
NM_001378454.1(ALMS1):c.1433-64dup
|
rs66492706
|
|
NM_001378454.1(ALMS1):c.1571CTC[1] (p.Pro525del)
|
rs34628045
|
|
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly)
|
rs115444326
|
|
NM_001378454.1(ALMS1):c.2416G>C (p.Val806Leu)
|
rs138921247
|
|
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=)
|
rs77517267
|
|
NM_001378454.1(ALMS1):c.325-4dup
|
|
|
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[18] (p.Glu24_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[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.4238G>C (p.Gly1413Ala)
|
rs886038612
|
|
NM_001378454.1(ALMS1):c.4323G>T (p.Gln1441His)
|
|
|
NM_001378454.1(ALMS1):c.5457G>A (p.Glu1819=)
|
rs886038613
|
|
NM_001378454.1(ALMS1):c.54_55del (p.Glu19fs)
|
|
|
NM_001378454.1(ALMS1):c.5620A>G (p.Lys1874Glu)
|
rs886038614
|
|
NM_001378454.1(ALMS1):c.58del (p.Glu20fs)
|
|
|
NM_001378454.1(ALMS1):c.61del (p.Glu21fs)
|
rs753006733
|
|
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.65_66insAGAGGA (p.Glu28_Ala29insGluGlu)
|
|
|
NM_001378454.1(ALMS1):c.668C>A (p.Ser223Tyr)
|
rs886038615
|
|
NM_001378454.1(ALMS1):c.68_69insAGAGGA (p.Glu27_Glu28dup)
|
rs756301830
|
|
NM_001378454.1(ALMS1):c.75_80del (p.Glu27_Glu28del)
|
rs754175473
|
|
NM_001378454.1(ALMS1):c.7675-144C>G
|
rs2056750
|
|
NM_001378454.1(ALMS1):c.8487T>C (p.Asn2829=)
|
rs756959656
|
|
NM_001378454.1(ALMS1):c.8980G>A (p.Val2994Ile)
|
rs45566838
|
|
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup)
|
rs746896173
|
|
NM_001378454.1(ALMS1):c.942T>C (p.Pro314=)
|
rs886038618
|
|
NM_001378454.1(ALMS1):c.9540-234A>T
|
rs114800454
|
|
NM_001378454.1(ALMS1):c.9540-7dup
|
rs750386293
|
|
NM_001378454.1(ALMS1):c.9767C>G (p.Ser3256Cys)
|
rs200922218
|
|
NM_001378454.1(ALMS1):c.9782-11dup
|
rs1553414055
|
|
NM_015120.4(ALMS1):c.-39CTC[6]
|
rs746980000
|
|
NM_015120.4(ALMS1):c.1577_1579dup (p.Pro526_Leu527insPro)
|
rs34628045
|
|