NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn)
|
rs28730853
|
0.02251
|
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu)
|
rs34071195
|
0.01772
|
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His)
|
rs11889925
|
0.01714
|
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp)
|
rs45608038
|
0.01548
|
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn)
|
rs78039319
|
0.01071
|
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.4605A>G (p.Gln1535=)
|
rs144720929
|
0.00412
|
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala)
|
rs58806616
|
0.00296
|
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)
|
rs188807564
|
0.00267
|
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.2036A>G (p.Tyr679Cys)
|
rs199573929
|
0.00146
|
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=)
|
rs183390773
|
0.00119
|
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser)
|
rs189032342
|
0.00097
|
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser)
|
rs199874928
|
0.00078
|
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val)
|
rs78102263
|
0.00071
|
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His)
|
rs142558799
|
0.00066
|
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=)
|
rs200491758
|
0.00066
|
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)
|
rs201390755
|
0.00065
|
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.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.12004C>T (p.Arg4002Trp)
|
rs200897773
|
0.00040
|
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe)
|
rs192499639
|
0.00036
|
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.11070C>T (p.Gly3690=)
|
rs371329585
|
0.00023
|
NM_001378454.1(ALMS1):c.57_58del (p.Glu20fs)
|
rs767882166
|
0.00022
|
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=)
|
rs201478438
|
0.00021
|
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser)
|
rs199922877
|
0.00020
|
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg)
|
rs373366352
|
0.00019
|
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg)
|
rs200586877
|
0.00017
|
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)
|
rs201728850
|
0.00014
|
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His)
|
rs200441305
|
0.00013
|
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr)
|
rs368957150
|
0.00012
|
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala)
|
rs199649563
|
0.00012
|
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.8595A>G (p.Val2865=)
|
rs1052804740
|
0.00009
|
NM_001378454.1(ALMS1):c.9908-13C>T
|
rs373325114
|
0.00009
|
NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly)
|
rs868269804
|
0.00007
|
NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr)
|
rs757364858
|
0.00006
|
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys)
|
rs370398704
|
0.00006
|
NM_001378454.1(ALMS1):c.558C>T (p.Asp186=)
|
rs370228166
|
0.00005
|
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter)
|
rs751804613
|
0.00004
|
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter)
|
rs150825781
|
0.00004
|
NM_001378454.1(ALMS1):c.451-5T>G
|
rs774098604
|
0.00004
|
NM_001378454.1(ALMS1):c.8109G>A (p.Pro2703=)
|
rs759983484
|
0.00004
|
NM_001378454.1(ALMS1):c.11669-2A>G
|
rs952110960
|
0.00003
|
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=)
|
rs199603690
|
0.00003
|
NM_001378454.1(ALMS1):c.12363-18A>C
|
rs199968770
|
0.00003
|
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=)
|
rs750362630
|
0.00003
|
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter)
|
rs758195453
|
0.00003
|
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=)
|
rs1464934308
|
0.00002
|
NM_001378454.1(ALMS1):c.10461C>T (p.Pro3487=)
|
rs202036843
|
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.12363-12G>A
|
rs749504196
|
0.00002
|
NM_001378454.1(ALMS1):c.1238-20A>G
|
rs771811655
|
0.00002
|
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter)
|
rs755760721
|
0.00002
|
NM_001378454.1(ALMS1):c.2961G>A (p.Leu987=)
|
rs745503022
|
0.00002
|
NM_001378454.1(ALMS1):c.5532C>T (p.Asn1844=)
|
rs369656698
|
0.00002
|
NM_001378454.1(ALMS1):c.5765T>C (p.Val1922Ala)
|
rs761428155
|
0.00002
|
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=)
|
rs373972884
|
0.00002
|
NM_001378454.1(ALMS1):c.7541-6C>T
|
rs1408073039
|
0.00002
|
NM_001378454.1(ALMS1):c.765-12A>G
|
rs200209691
|
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.10079-10G>A
|
rs778996015
|
0.00001
|
NM_001378454.1(ALMS1):c.10137A>G (p.Gln3379=)
|
rs756623131
|
0.00001
|
NM_001378454.1(ALMS1):c.10214-5C>T
|
rs751591632
|
0.00001
|
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly)
|
rs746702722
|
0.00001
|
NM_001378454.1(ALMS1):c.10385-9C>T
|
rs568809052
|
0.00001
|
NM_001378454.1(ALMS1):c.10467C>T (p.His3489=)
|
rs371631738
|
0.00001
|
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter)
|
rs1275113273
|
0.00001
|
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter)
|
rs1192396248
|
0.00001
|
NM_001378454.1(ALMS1):c.10947T>C (p.Ser3649=)
|
rs373024720
|
0.00001
|
NM_001378454.1(ALMS1):c.11104C>A (p.Arg3702=)
|
rs747747269
|
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.11873-11G>A
|
rs571456553
|
0.00001
|
NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln)
|
rs752714698
|
0.00001
|
NM_001378454.1(ALMS1):c.12299-6G>A
|
rs771317399
|
0.00001
|
NM_001378454.1(ALMS1):c.12463-14C>G
|
rs766656843
|
0.00001
|
NM_001378454.1(ALMS1):c.1339-12G>T
|
rs1260375872
|
0.00001
|
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs)
|
rs777476179
|
0.00001
|
NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys)
|
rs193922693
|
0.00001
|
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=)
|
rs572605877
|
0.00001
|
NM_001378454.1(ALMS1):c.2466A>G (p.Gln822=)
|
rs755661115
|
0.00001
|
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter)
|
rs750326619
|
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.3266C>G (p.Thr1089Arg)
|
rs556855697
|
0.00001
|
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs)
|
rs1296683633
|
0.00001
|
NM_001378454.1(ALMS1):c.4571C>G (p.Ser1524Ter)
|
rs1558649531
|
0.00001
|
NM_001378454.1(ALMS1):c.4995C>T (p.Tyr1665=)
|
rs762003836
|
0.00001
|
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)
|
rs772136379
|
0.00001
|
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala)
|
rs546111188
|
0.00001
|
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter)
|
rs759024519
|
0.00001
|
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter)
|
rs749339938
|
0.00001
|
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter)
|
rs771994237
|
0.00001
|
NM_001378454.1(ALMS1):c.646+8C>G
|
rs760012033
|
0.00001
|
NM_001378454.1(ALMS1):c.6797T>A (p.Leu2266Ter)
|
rs761071372
|
0.00001
|
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter)
|
rs761713440
|
0.00001
|
NM_001378454.1(ALMS1):c.7005T>C (p.Asp2335=)
|
rs781592497
|
0.00001
|
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter)
|
rs989080548
|
0.00001
|
NM_001378454.1(ALMS1):c.753_754insA (p.Ala252fs)
|
rs748892226
|
0.00001
|
NM_001378454.1(ALMS1):c.8117A>G (p.Glu2706Gly)
|
rs768090632
|
0.00001
|
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=)
|
rs777796888
|
0.00001
|
NM_001378454.1(ALMS1):c.9384A>G (p.Val3128=)
|
rs752453102
|
0.00001
|
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly)
|
rs563393715
|
0.00001
|
NM_001378454.1(ALMS1):c.9607C>T (p.Gln3203Ter)
|
rs956247442
|
0.00001
|
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=)
|
rs370267673
|
0.00001
|
NM_001378454.1(ALMS1):c.9782-13T>G
|
rs530508947
|
0.00001
|
NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs)
|
rs754702823
|
0.00001
|
NM_001378454.1(ALMS1):c.10079-11C>A
|
rs368250605
|
|
NM_001378454.1(ALMS1):c.10079-19A>G
|
rs935864365
|
|
NM_001378454.1(ALMS1):c.10079-4C>G
|
rs1446726516
|
|
NM_001378454.1(ALMS1):c.10131dup (p.Gln3378fs)
|
rs1553416867
|
|
NM_001378454.1(ALMS1):c.10368A>G (p.Leu3456=)
|
rs929142880
|
|
NM_001378454.1(ALMS1):c.10385-7T>G
|
rs1298945759
|
|
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter)
|
rs375019820
|
|
NM_001378454.1(ALMS1):c.10731T>C (p.Ile3577=)
|
rs1553418487
|
|
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs)
|
rs1553418500
|
|
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter)
|
rs1473611414
|
|
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs)
|
rs1412574975
|
|
NM_001378454.1(ALMS1):c.11117C>G (p.Ser3706Cys)
|
rs533965968
|
|
NM_001378454.1(ALMS1):c.11323C>T (p.Leu3775=)
|
rs771595125
|
|
NM_001378454.1(ALMS1):c.11511A>G (p.Leu3837=)
|
rs374164508
|
|
NM_001378454.1(ALMS1):c.11668+1G>T
|
rs1181992959
|
|
NM_001378454.1(ALMS1):c.11669-11del
|
rs1261279730
|
|
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs)
|
rs1553421626
|
|
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs)
|
rs932538480
|
|
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs)
|
rs1247974278
|
|
NM_001378454.1(ALMS1):c.11809dup (p.Met3937fs)
|
rs757722767
|
|
NM_001378454.1(ALMS1):c.11873-11G>T
|
rs571456553
|
|
NM_001378454.1(ALMS1):c.11873-4G>A
|
rs1553421697
|
|
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs)
|
rs761292021
|
|
NM_001378454.1(ALMS1):c.12083_12086del (p.Leu4028fs)
|
rs1553421741
|
|
NM_001378454.1(ALMS1):c.12115-8dup
|
rs748193431
|
|
NM_001378454.1(ALMS1):c.12150C>A (p.Ser4050=)
|
rs1553421877
|
|
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.12363-5C>G
|
rs774448248
|
|
NM_001378454.1(ALMS1):c.12363-6T>G
|
rs1553422641
|
|
NM_001378454.1(ALMS1):c.1237+10C>G
|
rs1291450244
|
|
NM_001378454.1(ALMS1):c.12462+1del
|
rs750907119
|
|
NM_001378454.1(ALMS1):c.12463-10T>C
|
rs754172101
|
|
NM_001378454.1(ALMS1):c.12463-9C>G
|
rs1553422761
|
|
NM_001378454.1(ALMS1):c.1339-5A>G
|
rs373469023
|
|
NM_001378454.1(ALMS1):c.1339-8C>T
|
rs1553401596
|
|
NM_001378454.1(ALMS1):c.1610_1611del (p.Leu537fs)
|
rs1553403282
|
|
NM_001378454.1(ALMS1):c.1625T>A (p.Leu542Ter)
|
rs1347176614
|
|
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter)
|
rs780843883
|
|
NM_001378454.1(ALMS1):c.1941del (p.Val648fs)
|
rs1671852270
|
|
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly)
|
rs115444326
|
|
NM_001378454.1(ALMS1):c.20del (p.Pro7fs)
|
rs1340135231
|
|
NM_001378454.1(ALMS1):c.2176del (p.Tyr726fs)
|
|
|
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs)
|
rs771459937
|
|
NM_001378454.1(ALMS1):c.2221dup (p.Thr741fs)
|
rs769291842
|
|
NM_001378454.1(ALMS1):c.2445_2446del (p.Lys816fs)
|
rs765764128
|
|
NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs)
|
rs1230351650
|
|
NM_001378454.1(ALMS1):c.281dup (p.Gln95fs)
|
rs2104060044
|
|
NM_001378454.1(ALMS1):c.30C>T (p.Gly10=)
|
rs1402244580
|
|
NM_001378454.1(ALMS1):c.325-8A>C
|
rs200740825
|
|
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs)
|
rs1553403656
|
|
NM_001378454.1(ALMS1):c.359_360del (p.Ile120fs)
|
rs1553398842
|
|
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.3718_3721del (p.Ser1240fs)
|
rs868776324
|
|
NM_001378454.1(ALMS1):c.3781G>T (p.Glu1261Ter)
|
rs1085307054
|
|
NM_001378454.1(ALMS1):c.3891C>A (p.Tyr1297Ter)
|
rs2103780557
|
|
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs)
|
rs1553403851
|
|
NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter)
|
rs1208636696
|
|
NM_001378454.1(ALMS1):c.4321C>T (p.Gln1441Ter)
|
|
|
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter)
|
rs778728424
|
|
NM_001378454.1(ALMS1):c.4390C>T (p.Gln1464Ter)
|
rs904289501
|
|
NM_001378454.1(ALMS1):c.4542C>T (p.Gly1514=)
|
rs763511170
|
|
NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter)
|
rs1572935708
|
|
NM_001378454.1(ALMS1):c.478C>T (p.Gln160Ter)
|
|
|
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs)
|
rs1572936092
|
|
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs)
|
rs1553404020
|
|
NM_001378454.1(ALMS1):c.5274del (p.Tyr1759fs)
|
rs2103785778
|
|
NM_001378454.1(ALMS1):c.5310G>A (p.Gln1770=)
|
rs778267451
|
|
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu)
|
rs200925575
|
|
NM_001378454.1(ALMS1):c.5462del (p.Pro1821fs)
|
rs770264966
|
|
NM_001378454.1(ALMS1):c.5620A>T (p.Lys1874Ter)
|
|
|
NM_001378454.1(ALMS1):c.57G>A (p.Glu19=)
|
rs866503570
|
|
NM_001378454.1(ALMS1):c.5966C>A (p.Ser1989Ter)
|
rs777080769
|
|
NM_001378454.1(ALMS1):c.5978_5979del (p.Lys1993fs)
|
rs1553404180
|
|
NM_001378454.1(ALMS1):c.6433C>A (p.Arg2145=)
|
rs770558150
|
|
NM_001378454.1(ALMS1):c.647-4A>G
|
rs1553400427
|
|
NM_001378454.1(ALMS1):c.6483_6486del (p.Thr2162fs)
|
rs1553404252
|
|
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs)
|
rs1553404310
|
|
NM_001378454.1(ALMS1):c.6837del (p.Pro2280fs)
|
rs1553404337
|
|
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs)
|
rs1553404358
|
|
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs)
|
rs1553404377
|
|
NM_001378454.1(ALMS1):c.6975A>G (p.Glu2325=)
|
rs1455390186
|
|
NM_001378454.1(ALMS1):c.7226del (p.Thr2409fs)
|
rs1553404423
|
|
NM_001378454.1(ALMS1):c.7237dup (p.Ser2413fs)
|
rs1553404426
|
|
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs)
|
rs1370417967
|
|
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter)
|
rs2103794046
|
|
NM_001378454.1(ALMS1):c.7541-4C>G
|
rs1380143996
|
|
NM_001378454.1(ALMS1):c.765-6T>A
|
rs755762723
|
|
NM_001378454.1(ALMS1):c.780G>A (p.Lys260=)
|
rs1553400683
|
|
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs)
|
rs1553409617
|
|
NM_001378454.1(ALMS1):c.803_805del (p.Ser268_Arg269delinsTer)
|
rs758952057
|
|
NM_001378454.1(ALMS1):c.8133del (p.Phe2711fs)
|
rs1553409683
|
|
NM_001378454.1(ALMS1):c.8141_8148del (p.Ser2714fs)
|
rs1553409686
|
|
NM_001378454.1(ALMS1):c.8152dup (p.Ser2718fs)
|
rs1553409691
|
|
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer)
|
rs1553409710
|
|
NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs)
|
|
|
NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=)
|
rs886038617
|
|
NM_001378454.1(ALMS1):c.857C>G (p.Ser286Ter)
|
rs1270472063
|
|
NM_001378454.1(ALMS1):c.8718dup (p.Ser2907fs)
|
rs1553409764
|
|
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs)
|
rs1553409774
|
|
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs)
|
rs1553409851
|
|
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup)
|
rs746896173
|
|
NM_001378454.1(ALMS1):c.9540-7dup
|
rs750386293
|
|
NM_001378454.1(ALMS1):c.9753A>G (p.Gln3251=)
|
rs1553412793
|
|
NM_001378454.1(ALMS1):c.9782-11dup
|
rs1553414055
|
|
NM_001378454.1(ALMS1):c.9782-6C>T
|
rs1414733616
|
|
NM_001378454.1(ALMS1):c.9782-8C>T
|
rs1553414061
|
|
NM_001378454.1(ALMS1):c.9804T>A (p.Tyr3268Ter)
|
rs368412850
|
|
NM_001378454.1(ALMS1):c.9908-13C>G
|
rs373325114
|
|
NM_001378454.1(ALMS1):c.9908-15C>G
|
rs1389556610
|
|
NM_001378454.1(ALMS1):c.9919_9923del (p.Ala3307fs)
|
|
|
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter)
|
rs754690894
|
|
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del)
|
rs55889738
|
|