ClinVar Miner

List of variants in gene ALMS1 reported as likely benign for Alstrom syndrome

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Gene type:
ClinVar version:
Total variants: 811
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HGVS dbSNP
NM_001378454.1(ALMS1):c.10020G>A (p.Arg3340=) rs746166271
NM_001378454.1(ALMS1):c.10023A>G (p.Val3341=) rs770072519
NM_001378454.1(ALMS1):c.10038C>T (p.Ser3346=) rs375436336
NM_001378454.1(ALMS1):c.10047G>A (p.Val3349=)
NM_001378454.1(ALMS1):c.10050A>G (p.Gly3350=)
NM_001378454.1(ALMS1):c.10059C>T (p.Pro3353=)
NM_001378454.1(ALMS1):c.10078+10T>C rs752454047
NM_001378454.1(ALMS1):c.10078+7G>A
NM_001378454.1(ALMS1):c.10079-10G>A rs778996015
NM_001378454.1(ALMS1):c.10079-19A>G rs935864365
NM_001378454.1(ALMS1):c.10086A>G (p.Ser3362=) rs747033366
NM_001378454.1(ALMS1):c.10137A>G (p.Gln3379=) rs756623131
NM_001378454.1(ALMS1):c.10179T>C (p.Ala3393=)
NM_001378454.1(ALMS1):c.10213+11T>C rs1553416883
NM_001378454.1(ALMS1):c.10213+17G>C rs1553416885
NM_001378454.1(ALMS1):c.10213+7A>G rs1553416882
NM_001378454.1(ALMS1):c.10214-19G>A rs763103896
NM_001378454.1(ALMS1):c.10214-4G>A
NM_001378454.1(ALMS1):c.10218C>T (p.Ser3406=) rs754938453
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=) rs1464934308
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly) rs184779459
NM_001378454.1(ALMS1):c.10263A>G (p.Pro3421=)
NM_001378454.1(ALMS1):c.10297A>G (p.Thr3433Ala) rs750493624
NM_001378454.1(ALMS1):c.102G>C (p.Ala34=) rs1574423870
NM_001378454.1(ALMS1):c.10317T>C (p.His3439=)
NM_001378454.1(ALMS1):c.1032A>G (p.Ser344=) rs376519124
NM_001378454.1(ALMS1):c.10362A>G (p.Glu3454=)
NM_001378454.1(ALMS1):c.10368A>G (p.Leu3456=) rs929142880
NM_001378454.1(ALMS1):c.10385-7T>A
NM_001378454.1(ALMS1):c.10389C>T (p.Ser3463=) rs760299487
NM_001378454.1(ALMS1):c.10404A>G (p.Glu3468=)
NM_001378454.1(ALMS1):c.1041A>G (p.Ser347=) rs1553400737
NM_001378454.1(ALMS1):c.10440A>G (p.Ala3480=)
NM_001378454.1(ALMS1):c.10461C>T (p.Pro3487=) rs202036843
NM_001378454.1(ALMS1):c.10470A>G (p.Leu3490=)
NM_001378454.1(ALMS1):c.1047G>A (p.Lys349=)
NM_001378454.1(ALMS1):c.10485T>C (p.Asp3495=)
NM_001378454.1(ALMS1):c.10488T>A (p.Ile3496=)
NM_001378454.1(ALMS1):c.10494T>C (p.His3498=)
NM_001378454.1(ALMS1):c.10497A>G (p.Glu3499=)
NM_001378454.1(ALMS1):c.1050A>T (p.Thr350=)
NM_001378454.1(ALMS1):c.10566T>C (p.His3522=)
NM_001378454.1(ALMS1):c.10611G>A (p.Lys3537=) rs1470146152
NM_001378454.1(ALMS1):c.10620A>G (p.Thr3540=)
NM_001378454.1(ALMS1):c.1065G>A (p.Gln355=)
NM_001378454.1(ALMS1):c.1071T>C (p.Pro357=)
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524
NM_001378454.1(ALMS1):c.10774A>C (p.Thr3592Pro) rs200467041
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala) rs200467041
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=) rs45445398
NM_001378454.1(ALMS1):c.10792T>C (p.Leu3598=)
NM_001378454.1(ALMS1):c.10803G>A (p.Leu3601=)
NM_001378454.1(ALMS1):c.10812G>A (p.Lys3604=)
NM_001378454.1(ALMS1):c.10833A>G (p.Gln3611=)
NM_001378454.1(ALMS1):c.10849T>C (p.Leu3617=)
NM_001378454.1(ALMS1):c.10854T>A (p.Gly3618=)
NM_001378454.1(ALMS1):c.10858A>C (p.Arg3620=) rs201598829
NM_001378454.1(ALMS1):c.10860G>A (p.Arg3620=) rs373682259
NM_001378454.1(ALMS1):c.10866A>G (p.Glu3622=) rs377601961
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799
NM_001378454.1(ALMS1):c.10923A>G (p.Thr3641=)
NM_001378454.1(ALMS1):c.10968G>C (p.Gly3656=) rs1439789927
NM_001378454.1(ALMS1):c.11004G>A (p.Gln3668=)
NM_001378454.1(ALMS1):c.11025A>G (p.Lys3675=)
NM_001378454.1(ALMS1):c.11028G>A (p.Lys3676=)
NM_001378454.1(ALMS1):c.11064T>C (p.Asn3688=)
NM_001378454.1(ALMS1):c.11070C>A (p.Gly3690=) rs371329585
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=) rs371329585
NM_001378454.1(ALMS1):c.11118T>C (p.Ser3706=)
NM_001378454.1(ALMS1):c.11145A>G (p.Lys3715=) rs1573030809
NM_001378454.1(ALMS1):c.111G>T (p.Val37=)
NM_001378454.1(ALMS1):c.11214G>T (p.Arg3738=)
NM_001378454.1(ALMS1):c.11223G>A (p.Glu3741=) rs28730859
NM_001378454.1(ALMS1):c.11265C>T (p.Ser3755=)
NM_001378454.1(ALMS1):c.11283C>T (p.Val3761=)
NM_001378454.1(ALMS1):c.1128T>C (p.Thr376=)
NM_001378454.1(ALMS1):c.11310T>C (p.Asp3770=)
NM_001378454.1(ALMS1):c.11322T>C (p.Ala3774=)
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.11328C>T (p.His3776=) rs45596541
NM_001378454.1(ALMS1):c.11334G>A (p.Arg3778=)
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880
NM_001378454.1(ALMS1):c.11370G>T (p.Leu3790=)
NM_001378454.1(ALMS1):c.11379T>C (p.Ala3793=) rs377090880
NM_001378454.1(ALMS1):c.11397A>G (p.Val3799=)
NM_001378454.1(ALMS1):c.11400C>T (p.Cys3800=)
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser) rs189032342
NM_001378454.1(ALMS1):c.11422T>C (p.Leu3808=)
NM_001378454.1(ALMS1):c.11457C>T (p.Tyr3819=) rs373397289
NM_001378454.1(ALMS1):c.11460T>A (p.Leu3820=)
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=) rs750087396
NM_001378454.1(ALMS1):c.11499A>G (p.Thr3833=)
NM_001378454.1(ALMS1):c.11511A>G (p.Leu3837=) rs374164508
NM_001378454.1(ALMS1):c.11514G>C (p.Val3838=)
NM_001378454.1(ALMS1):c.11541C>T (p.His3847=)
NM_001378454.1(ALMS1):c.11547+12C>A rs755559102
NM_001378454.1(ALMS1):c.11547+12C>T rs755559102
NM_001378454.1(ALMS1):c.11547+13A>G rs753246208
NM_001378454.1(ALMS1):c.11547+16T>C rs373935106
NM_001378454.1(ALMS1):c.11547+7G>A
NM_001378454.1(ALMS1):c.11547+7G>C rs1553418641
NM_001378454.1(ALMS1):c.11548-19A>T rs760271173
NM_001378454.1(ALMS1):c.11548-5T>C
NM_001378454.1(ALMS1):c.11574C>T (p.Asp3858=) rs561636004
NM_001378454.1(ALMS1):c.11586T>G (p.Ser3862=)
NM_001378454.1(ALMS1):c.11610A>G (p.Ser3870=) rs188172095
NM_001378454.1(ALMS1):c.1161T>C (p.His387=) rs191091347
NM_001378454.1(ALMS1):c.11643C>T (p.His3881=)
NM_001378454.1(ALMS1):c.11668+12A>G rs1553421500
NM_001378454.1(ALMS1):c.11668+9T>C
NM_001378454.1(ALMS1):c.11669-17A>G rs762591261
NM_001378454.1(ALMS1):c.11688C>T (p.Asn3896=)
NM_001378454.1(ALMS1):c.11706T>C (p.Thr3902=)
NM_001378454.1(ALMS1):c.11709A>C (p.Arg3903=)
NM_001378454.1(ALMS1):c.11715T>C (p.Val3905=)
NM_001378454.1(ALMS1):c.11715T>G (p.Val3905=)
NM_001378454.1(ALMS1):c.11733T>C (p.Thr3911=)
NM_001378454.1(ALMS1):c.11742C>T (p.Ser3914=) rs374909171
NM_001378454.1(ALMS1):c.11748G>A (p.Glu3916=) rs373364340
NM_001378454.1(ALMS1):c.11755T>C (p.Leu3919=) rs750372739
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser) rs199874928
NM_001378454.1(ALMS1):c.11772T>C (p.Asp3924=) rs201924342
NM_001378454.1(ALMS1):c.11778T>C (p.Thr3926=) rs368160921
NM_001378454.1(ALMS1):c.11799T>A (p.Arg3933=)
NM_001378454.1(ALMS1):c.1179A>C (p.Ser393=) rs765376715
NM_001378454.1(ALMS1):c.1179A>G (p.Ser393=)
NM_001378454.1(ALMS1):c.1179A>T (p.Ser393=) rs765376715
NM_001378454.1(ALMS1):c.117C>T (p.Asp39=)
NM_001378454.1(ALMS1):c.11820C>G (p.Thr3940=) rs565546868
NM_001378454.1(ALMS1):c.11820C>T (p.Thr3940=)
NM_001378454.1(ALMS1):c.1185G>A (p.Gly395=)
NM_001378454.1(ALMS1):c.11867A>G (p.His3956Arg) rs553786370
NM_001378454.1(ALMS1):c.11868T>C (p.His3956=) rs370489767
NM_001378454.1(ALMS1):c.11872+12A>G rs193922691
NM_001378454.1(ALMS1):c.11872+7T>A rs763235048
NM_001378454.1(ALMS1):c.11872+9C>G rs768886966
NM_001378454.1(ALMS1):c.1188G>A (p.Gln396=) rs368655814
NM_001378454.1(ALMS1):c.11910T>C (p.Ser3970=)
NM_001378454.1(ALMS1):c.11928C>T (p.Asn3976=)
NM_001378454.1(ALMS1):c.11931G>A (p.Val3977=)
NM_001378454.1(ALMS1):c.11940T>A (p.Thr3980=)
NM_001378454.1(ALMS1):c.11940T>C (p.Thr3980=)
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) rs201728850
NM_001378454.1(ALMS1):c.11958C>T (p.Ser3986=)
NM_001378454.1(ALMS1):c.11994G>A (p.Arg3998=)
NM_001378454.1(ALMS1):c.11997G>A (p.Glu3999=)
NM_001378454.1(ALMS1):c.12006G>A (p.Arg4002=) rs1573054242
NM_001378454.1(ALMS1):c.12031C>T (p.Leu4011=)
NM_001378454.1(ALMS1):c.12036C>T (p.Asp4012=) rs370981817
NM_001378454.1(ALMS1):c.12048C>T (p.Tyr4016=)
NM_001378454.1(ALMS1):c.12054A>G (p.Ala4018=)
NM_001378454.1(ALMS1):c.12087G>A (p.Leu4029=)
NM_001378454.1(ALMS1):c.12093A>G (p.Pro4031=)
NM_001378454.1(ALMS1):c.1209A>G (p.Ser403=)
NM_001378454.1(ALMS1):c.120A>G (p.Val40=)
NM_001378454.1(ALMS1):c.12105A>C (p.Ala4035=)
NM_001378454.1(ALMS1):c.12108C>G (p.Thr4036=) rs767174517
NM_001378454.1(ALMS1):c.12114+12T>C rs377393930
NM_001378454.1(ALMS1):c.12114+14G>T rs1057524070
NM_001378454.1(ALMS1):c.12114+19A>G rs760374917
NM_001378454.1(ALMS1):c.12114+19A>T rs760374917
NM_001378454.1(ALMS1):c.12114+5_12114+66dup
NM_001378454.1(ALMS1):c.12115-7C>T
NM_001378454.1(ALMS1):c.12120G>A (p.Ser4040=)
NM_001378454.1(ALMS1):c.12147C>T (p.Ile4049=) rs374328093
NM_001378454.1(ALMS1):c.12165G>A (p.Arg4055=)
NM_001378454.1(ALMS1):c.12174C>T (p.Arg4058=) rs377661858
NM_001378454.1(ALMS1):c.12177G>T (p.Leu4059=) rs1573055527
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=) rs199603690
NM_001378454.1(ALMS1):c.12216A>G (p.Leu4072=)
NM_001378454.1(ALMS1):c.12222C>T (p.Thr4074=) rs199638718
NM_001378454.1(ALMS1):c.12234A>C (p.Ala4078=)
NM_001378454.1(ALMS1):c.12234A>G (p.Ala4078=) rs374508659
NM_001378454.1(ALMS1):c.12237A>G (p.Leu4079=)
NM_001378454.1(ALMS1):c.1227A>C (p.Thr409=)
NM_001378454.1(ALMS1):c.12282C>T (p.Cys4094=)
NM_001378454.1(ALMS1):c.12285G>A (p.Pro4095=) rs776912137
NM_001378454.1(ALMS1):c.12285G>T (p.Pro4095=) rs776912137
NM_001378454.1(ALMS1):c.12291C>T (p.Pro4097=)
NM_001378454.1(ALMS1):c.12298+10G>A
NM_001378454.1(ALMS1):c.12298+10G>T
NM_001378454.1(ALMS1):c.12298+14G>A rs755931726
NM_001378454.1(ALMS1):c.12298+19C>T rs1553421935
NM_001378454.1(ALMS1):c.12298+7C>T rs1252100215
NM_001378454.1(ALMS1):c.12299-6G>A rs771317399
NM_001378454.1(ALMS1):c.12321C>T (p.Asn4107=) rs767420244
NM_001378454.1(ALMS1):c.12354G>A (p.Arg4118=) rs546745992
NM_001378454.1(ALMS1):c.12362+16C>G rs1553422061
NM_001378454.1(ALMS1):c.12362+18A>T rs535484933
NM_001378454.1(ALMS1):c.12362+7C>A
NM_001378454.1(ALMS1):c.12363-14G>A rs377374398
NM_001378454.1(ALMS1):c.1237+10C>G rs1291450244
NM_001378454.1(ALMS1):c.1237+14T>C rs1482335275
NM_001378454.1(ALMS1):c.1237+8C>A rs771449454
NM_001378454.1(ALMS1):c.1237+9C>G rs201471551
NM_001378454.1(ALMS1):c.1237+9C>T rs201471551
NM_001378454.1(ALMS1):c.1238-20A>G rs771811655
NM_001378454.1(ALMS1):c.1238-5T>C
NM_001378454.1(ALMS1):c.1238-9A>G rs372652836
NM_001378454.1(ALMS1):c.12402A>G (p.Glu4134=)
NM_001378454.1(ALMS1):c.12423A>G (p.Glu4141=)
NM_001378454.1(ALMS1):c.12432A>G (p.Ser4144=)
NM_001378454.1(ALMS1):c.12447C>T (p.Ala4149=) rs374020124
NM_001378454.1(ALMS1):c.12456T>C (p.Tyr4152=)
NM_001378454.1(ALMS1):c.12462+10T>C rs748315200
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+19T>C rs1309452497
NM_001378454.1(ALMS1):c.12463-4A>G rs755283383
NM_001378454.1(ALMS1):c.12463-9C>G rs1553422761
NM_001378454.1(ALMS1):c.1266C>T (p.Asp422=)
NM_001378454.1(ALMS1):c.126C>T (p.Val42=)
NM_001378454.1(ALMS1):c.1272T>C (p.Ile424=) rs544932125
NM_001378454.1(ALMS1):c.1302T>C (p.Val434=)
NM_001378454.1(ALMS1):c.1327C>T (p.Leu443=)
NM_001378454.1(ALMS1):c.1329A>G (p.Leu443=)
NM_001378454.1(ALMS1):c.1338+11A>G rs1553400967
NM_001378454.1(ALMS1):c.1338+18G>A rs369695595
NM_001378454.1(ALMS1):c.1338+20T>A rs1466354765
NM_001378454.1(ALMS1):c.1339-8C>T rs1553401596
NM_001378454.1(ALMS1):c.1353G>A (p.Ser451=) rs370873335
NM_001378454.1(ALMS1):c.1381T>C (p.Leu461=)
NM_001378454.1(ALMS1):c.1386G>A (p.Arg462=) rs749794703
NM_001378454.1(ALMS1):c.1395T>C (p.Pro465=)
NM_001378454.1(ALMS1):c.1423T>C (p.Leu475=)
NM_001378454.1(ALMS1):c.1425A>G (p.Leu475=)
NM_001378454.1(ALMS1):c.1432+12A>G rs1553401640
NM_001378454.1(ALMS1):c.1432+14G>A rs1204922039
NM_001378454.1(ALMS1):c.1432+15G>A rs376610564
NM_001378454.1(ALMS1):c.1432+16A>G rs1553401642
NM_001378454.1(ALMS1):c.1432+7A>G rs1468328132
NM_001378454.1(ALMS1):c.1437C>T (p.Asp479=) rs372610345
NM_001378454.1(ALMS1):c.1470A>G (p.Gln490=) rs769982352
NM_001378454.1(ALMS1):c.1473C>G (p.Ser491=)
NM_001378454.1(ALMS1):c.1497C>T (p.Thr499=)
NM_001378454.1(ALMS1):c.150G>C (p.Ala50=)
NM_001378454.1(ALMS1):c.1521A>C (p.Gly507=) rs760374410
NM_001378454.1(ALMS1):c.1548C>G (p.Asp516Glu) rs202002052
NM_001378454.1(ALMS1):c.1557G>A (p.Gln519=) rs764869245
NM_001378454.1(ALMS1):c.1566A>G (p.Val522=) rs1411790516
NM_001378454.1(ALMS1):c.1578A>G (p.Leu526=)
NM_001378454.1(ALMS1):c.1623A>G (p.Thr541=)
NM_001378454.1(ALMS1):c.162G>A (p.Leu54=)
NM_001378454.1(ALMS1):c.1641A>C (p.Leu547=)
NM_001378454.1(ALMS1):c.168C>T (p.Ser56=)
NM_001378454.1(ALMS1):c.1695T>C (p.Thr565=) rs368992526
NM_001378454.1(ALMS1):c.1701A>G (p.Thr567=)
NM_001378454.1(ALMS1):c.1710A>C (p.Val570=) rs201095989
NM_001378454.1(ALMS1):c.1731T>C (p.His577=) rs768761501
NM_001378454.1(ALMS1):c.1734G>A (p.Arg578=) rs1027908105
NM_001378454.1(ALMS1):c.1740G>A (p.Lys580=)
NM_001378454.1(ALMS1):c.1743C>T (p.Pro581=)
NM_001378454.1(ALMS1):c.1758G>A (p.Gln586=) rs377037998
NM_001378454.1(ALMS1):c.1773C>T (p.Asp591=) rs369744185
NM_001378454.1(ALMS1):c.1776T>C (p.Ser592=)
NM_001378454.1(ALMS1):c.1806A>G (p.Ser602=)
NM_001378454.1(ALMS1):c.1809T>A (p.Ala603=)
NM_001378454.1(ALMS1):c.1809T>C (p.Ala603=)
NM_001378454.1(ALMS1):c.1815T>G (p.Pro605=)
NM_001378454.1(ALMS1):c.1821A>T (p.Leu607=)
NM_001378454.1(ALMS1):c.1836T>C (p.Thr612=)
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591
NM_001378454.1(ALMS1):c.183G>A (p.Gly61=)
NM_001378454.1(ALMS1):c.1854C>T (p.Thr618=) rs1327400351
NM_001378454.1(ALMS1):c.1863C>A (p.Ser621=)
NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys) rs193922693
NM_001378454.1(ALMS1):c.1866C>T (p.Tyr622=) rs1474922476
NM_001378454.1(ALMS1):c.1884T>C (p.Pro628=) rs373831151
NM_001378454.1(ALMS1):c.1887T>C (p.Gly629=)
NM_001378454.1(ALMS1):c.1926C>T (p.Thr642=) rs745591025
NM_001378454.1(ALMS1):c.193C>T (p.Leu65=)
NM_001378454.1(ALMS1):c.1962A>G (p.Pro654=) rs1572931748
NM_001378454.1(ALMS1):c.1977G>A (p.Thr659=) rs201316401
NM_001378454.1(ALMS1):c.1989A>G (p.Thr663=)
NM_001378454.1(ALMS1):c.1992A>G (p.Val664=) rs894774935
NM_001378454.1(ALMS1):c.1998T>C (p.Ser666=)
NM_001378454.1(ALMS1):c.2022C>T (p.Asp674=) rs374151754
NM_001378454.1(ALMS1):c.2034C>T (p.Phe678=)
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly) rs115444326
NM_001378454.1(ALMS1):c.2049G>A (p.Leu683=) rs1572931934
NM_001378454.1(ALMS1):c.2067T>C (p.Thr689=)
NM_001378454.1(ALMS1):c.2079G>C (p.Leu693=) rs1320005523
NM_001378454.1(ALMS1):c.207C>T (p.Asp69=) rs752874408
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.2100A>G (p.Gly700=)
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=) rs750362630
NM_001378454.1(ALMS1):c.2106T>A (p.Ala702=)
NM_001378454.1(ALMS1):c.2121G>A (p.Gly707=)
NM_001378454.1(ALMS1):c.2122A>G (p.Thr708Ala) rs571389435
NM_001378454.1(ALMS1):c.2136C>T (p.Leu712=) rs747504060
NM_001378454.1(ALMS1):c.2151A>G (p.Ser717=)
NM_001378454.1(ALMS1):c.2187G>A (p.Glu729=) rs536950181
NM_001378454.1(ALMS1):c.2196C>T (p.Asp732=) rs754758293
NM_001378454.1(ALMS1):c.21A>C (p.Pro7=)
NM_001378454.1(ALMS1):c.21A>G (p.Pro7=)
NM_001378454.1(ALMS1):c.2217T>G (p.Thr739=)
NM_001378454.1(ALMS1):c.2223T>C (p.Thr741=)
NM_001378454.1(ALMS1):c.2271A>G (p.Pro757=)
NM_001378454.1(ALMS1):c.2285G>C (p.Ser762Thr)
NM_001378454.1(ALMS1):c.228C>G (p.Ala76=)
NM_001378454.1(ALMS1):c.228C>T (p.Ala76=)
NM_001378454.1(ALMS1):c.231G>A (p.Lys77=)
NM_001378454.1(ALMS1):c.2337A>G (p.Ala779=)
NM_001378454.1(ALMS1):c.234C>G (p.Ala78=) rs368947491
NM_001378454.1(ALMS1):c.234C>T (p.Ala78=)
NM_001378454.1(ALMS1):c.2370T>G (p.Val790=)
NM_001378454.1(ALMS1):c.2463C>T (p.Tyr821=)
NM_001378454.1(ALMS1):c.2472C>G (p.Ala824=) rs368270850
NM_001378454.1(ALMS1):c.2481C>T (p.Asp827=) rs748371743
NM_001378454.1(ALMS1):c.2493C>T (p.Pro831=) rs561060460
NM_001378454.1(ALMS1):c.2517T>G (p.Ala839=) rs765949316
NM_001378454.1(ALMS1):c.2535C>G (p.Asp845Glu) rs77517267
NM_001378454.1(ALMS1):c.2553A>C (p.Pro851=)
NM_001378454.1(ALMS1):c.2562C>G (p.Thr854=)
NM_001378454.1(ALMS1):c.2562C>T (p.Thr854=)
NM_001378454.1(ALMS1):c.2577G>A (p.Ala859=)
NM_001378454.1(ALMS1):c.2577G>C (p.Ala859=)
NM_001378454.1(ALMS1):c.2598G>A (p.Lys866=)
NM_001378454.1(ALMS1):c.2604T>C (p.Ser868=)
NM_001378454.1(ALMS1):c.2637T>C (p.His879=)
NM_001378454.1(ALMS1):c.2673T>C (p.Pro891=)
NM_001378454.1(ALMS1):c.2679A>G (p.Pro893=)
NM_001378454.1(ALMS1):c.2688G>A (p.Gln896=)
NM_001378454.1(ALMS1):c.2721C>T (p.Phe907=)
NM_001378454.1(ALMS1):c.2739G>A (p.Lys913=)
NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=) rs143885319
NM_001378454.1(ALMS1):c.279C>G (p.Pro93=) rs770203539
NM_001378454.1(ALMS1):c.279C>T (p.Pro93=) rs770203539
NM_001378454.1(ALMS1):c.2817A>G (p.Val939=) rs376517753
NM_001378454.1(ALMS1):c.282G>C (p.Pro94=)
NM_001378454.1(ALMS1):c.2847A>G (p.Thr949=)
NM_001378454.1(ALMS1):c.2850G>A (p.Val950=)
NM_001378454.1(ALMS1):c.2850G>T (p.Val950=)
NM_001378454.1(ALMS1):c.2880A>G (p.Lys960=) rs1238528749
NM_001378454.1(ALMS1):c.2922A>G (p.Leu974=)
NM_001378454.1(ALMS1):c.2922A>T (p.Leu974=) rs199769789
NM_001378454.1(ALMS1):c.2925T>C (p.Pro975=) rs751486678
NM_001378454.1(ALMS1):c.2935C>T (p.Leu979=)
NM_001378454.1(ALMS1):c.2949T>C (p.Ala983=)
NM_001378454.1(ALMS1):c.2955T>C (p.Pro985=)
NM_001378454.1(ALMS1):c.2961G>A (p.Leu987=) rs745503022
NM_001378454.1(ALMS1):c.2979C>T (p.Val993=)
NM_001378454.1(ALMS1):c.2997T>G (p.Pro999=)
NM_001378454.1(ALMS1):c.3009C>T (p.Phe1003=) rs1572933379
NM_001378454.1(ALMS1):c.3048G>A (p.Glu1016=)
NM_001378454.1(ALMS1):c.3057T>C (p.Asp1019=)
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) rs199922877
NM_001378454.1(ALMS1):c.3096C>A (p.Gly1032=) rs368659119
NM_001378454.1(ALMS1):c.3102A>T (p.Gly1034=)
NM_001378454.1(ALMS1):c.3120T>A (p.Thr1040=) rs372764773
NM_001378454.1(ALMS1):c.3138G>A (p.Gln1046=)
NM_001378454.1(ALMS1):c.315C>T (p.Ser105=) rs754611450
NM_001378454.1(ALMS1):c.316C>T (p.Leu106=)
NM_001378454.1(ALMS1):c.3177G>A (p.Leu1059=)
NM_001378454.1(ALMS1):c.3207A>T (p.Leu1069=)
NM_001378454.1(ALMS1):c.3234C>A (p.Ala1078=)
NM_001378454.1(ALMS1):c.324+10G>C rs778690416
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>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+7C>G rs1230102179
NM_001378454.1(ALMS1):c.3246A>G (p.Pro1082=) rs532389598
NM_001378454.1(ALMS1):c.325-6T>C rs760582213
NM_001378454.1(ALMS1):c.325-8A>C rs200740825
NM_001378454.1(ALMS1):c.325-8A>G rs200740825
NM_001378454.1(ALMS1):c.3291C>T (p.Tyr1097=)
NM_001378454.1(ALMS1):c.3305A>C (p.Lys1102Thr) rs185586839
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp) rs201074268
NM_001378454.1(ALMS1):c.3312T>A (p.Gly1104=)
NM_001378454.1(ALMS1):c.3324A>G (p.Gln1108=) rs780391682
NM_001378454.1(ALMS1):c.3330C>T (p.Thr1110=) rs749570443
NM_001378454.1(ALMS1):c.3336A>G (p.Pro1112=)
NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=) rs189914793
NM_001378454.1(ALMS1):c.3399G>A (p.Lys1133=) rs376683428
NM_001378454.1(ALMS1):c.339C>T (p.Thr113=)
NM_001378454.1(ALMS1):c.33G>A (p.Glu11=)
NM_001378454.1(ALMS1):c.3414T>C (p.Thr1138=)
NM_001378454.1(ALMS1):c.345T>C (p.His115=) rs1572904510
NM_001378454.1(ALMS1):c.348A>G (p.Val116=)
NM_001378454.1(ALMS1):c.3501G>A (p.Glu1167=)
NM_001378454.1(ALMS1):c.3516A>G (p.Ser1172=)
NM_001378454.1(ALMS1):c.3555A>C (p.Pro1185=)
NM_001378454.1(ALMS1):c.3561A>G (p.Val1187=)
NM_001378454.1(ALMS1):c.3654T>A (p.Val1218=)
NM_001378454.1(ALMS1):c.3675T>C (p.Ala1225=)
NM_001378454.1(ALMS1):c.3696A>G (p.Pro1232=)
NM_001378454.1(ALMS1):c.36GGA[17] (p.Glu25_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.3723C>T (p.His1241=)
NM_001378454.1(ALMS1):c.3732G>A (p.Lys1244=) rs140670994
NM_001378454.1(ALMS1):c.3757T>C (p.Leu1253=)
NM_001378454.1(ALMS1):c.3762A>G (p.Pro1254=)
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.3852T>C (p.Thr1284=)
NM_001378454.1(ALMS1):c.3867T>C (p.Tyr1289=) rs369314182
NM_001378454.1(ALMS1):c.387A>G (p.Gln129=)
NM_001378454.1(ALMS1):c.3897G>A (p.Gln1299=)
NM_001378454.1(ALMS1):c.3900G>A (p.Ser1300=)
NM_001378454.1(ALMS1):c.3900G>T (p.Ser1300=)
NM_001378454.1(ALMS1):c.3903G>A (p.Leu1301=)
NM_001378454.1(ALMS1):c.3918A>G (p.Leu1306=)
NM_001378454.1(ALMS1):c.3936T>C (p.Asn1312=)
NM_001378454.1(ALMS1):c.3942A>C (p.Ser1314=) rs186449817
NM_001378454.1(ALMS1):c.3945G>A (p.Ala1315=) rs201474138
NM_001378454.1(ALMS1):c.3948T>G (p.Val1316=)
NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly)
NM_001378454.1(ALMS1):c.4008C>T (p.His1336=)
NM_001378454.1(ALMS1):c.4020T>C (p.Pro1340=)
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg)
NM_001378454.1(ALMS1):c.4059A>G (p.Pro1353=)
NM_001378454.1(ALMS1):c.4071T>G (p.Ala1357=) rs1572934855
NM_001378454.1(ALMS1):c.4131C>T (p.Thr1377=)
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=) rs200491758
NM_001378454.1(ALMS1):c.4140T>C (p.Ser1380=) rs1362041238
NM_001378454.1(ALMS1):c.4149A>G (p.Gln1383=) rs370508895
NM_001378454.1(ALMS1):c.4164G>C (p.Pro1388=)
NM_001378454.1(ALMS1):c.4164G>T (p.Pro1388=)
NM_001378454.1(ALMS1):c.4167T>C (p.Ser1389=)
NM_001378454.1(ALMS1):c.4185G>A (p.Ser1395=) rs758814503
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala) rs199649563
NM_001378454.1(ALMS1):c.4230G>A (p.Ala1410=)
NM_001378454.1(ALMS1):c.4314C>T (p.Phe1438=)
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe) rs192499639
NM_001378454.1(ALMS1):c.432G>A (p.Arg144=) rs772143925
NM_001378454.1(ALMS1):c.4341T>C (p.His1447=) rs770081169
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=) rs200459890
NM_001378454.1(ALMS1):c.4347T>C (p.Pro1449=)
NM_001378454.1(ALMS1):c.4357T>C (p.Leu1453=) rs879109152
NM_001378454.1(ALMS1):c.435T>C (p.Gly145=)
NM_001378454.1(ALMS1):c.4383A>G (p.Pro1461=)
NM_001378454.1(ALMS1):c.4398T>A (p.Ile1466=)
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263
NM_001378454.1(ALMS1):c.4407A>G (p.Pro1469=)
NM_001378454.1(ALMS1):c.4413A>G (p.Val1471=)
NM_001378454.1(ALMS1):c.441G>T (p.Gly147=)
NM_001378454.1(ALMS1):c.4437A>G (p.Gly1479=)
NM_001378454.1(ALMS1):c.4458C>T (p.Tyr1486=)
NM_001378454.1(ALMS1):c.4464G>A (p.Gln1488=) rs770845249
NM_001378454.1(ALMS1):c.4470T>C (p.Phe1490=)
NM_001378454.1(ALMS1):c.450+11T>C rs763724672
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+22_450+25del rs764559198
NM_001378454.1(ALMS1):c.450+24_450+40del rs1553398860
NM_001378454.1(ALMS1):c.450+7C>A rs775200355
NM_001378454.1(ALMS1):c.4509A>T (p.Ser1503=)
NM_001378454.1(ALMS1):c.451-16T>C rs1553399953
NM_001378454.1(ALMS1):c.451-19T>C rs768590349
NM_001378454.1(ALMS1):c.451-20T>C rs762592063
NM_001378454.1(ALMS1):c.451-4C>G
NM_001378454.1(ALMS1):c.451-5T>C
NM_001378454.1(ALMS1):c.451-5T>G rs774098604
NM_001378454.1(ALMS1):c.4527T>C (p.Val1509=)
NM_001378454.1(ALMS1):c.4542C>T (p.Gly1514=) rs763511170
NM_001378454.1(ALMS1):c.4545A>G (p.Ala1515=)
NM_001378454.1(ALMS1):c.4584A>C (p.Ala1528=)
NM_001378454.1(ALMS1):c.4587G>A (p.Lys1529=)
NM_001378454.1(ALMS1):c.4615C>T (p.Leu1539=)
NM_001378454.1(ALMS1):c.4626A>G (p.Gln1542=)
NM_001378454.1(ALMS1):c.4638G>A (p.Glu1546=)
NM_001378454.1(ALMS1):c.4647A>G (p.Arg1549=) rs564445910
NM_001378454.1(ALMS1):c.4659T>G (p.Ala1553=)
NM_001378454.1(ALMS1):c.4683T>A (p.Thr1561=)
NM_001378454.1(ALMS1):c.4701C>T (p.Thr1567=)
NM_001378454.1(ALMS1):c.4713C>T (p.Tyr1571=)
NM_001378454.1(ALMS1):c.471T>C (p.Cys157=) rs367648094
NM_001378454.1(ALMS1):c.4731G>A (p.Pro1577=)
NM_001378454.1(ALMS1):c.4749G>A (p.Gln1583=)
NM_001378454.1(ALMS1):c.4758A>G (p.Pro1586=) rs778600773
NM_001378454.1(ALMS1):c.4761T>C (p.Asp1587=) rs747858041
NM_001378454.1(ALMS1):c.4770A>T (p.Leu1590=)
NM_001378454.1(ALMS1):c.477T>A (p.Pro159=)
NM_001378454.1(ALMS1):c.4824T>G (p.Thr1608=)
NM_001378454.1(ALMS1):c.4827C>T (p.Asp1609=) rs371708421
NM_001378454.1(ALMS1):c.4857A>G (p.Ala1619=) rs367772965
NM_001378454.1(ALMS1):c.4872C>T (p.Pro1624=) rs372692493
NM_001378454.1(ALMS1):c.4893T>C (p.Ala1631=)
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.4920G>A (p.Glu1640=) rs1572935943
NM_001378454.1(ALMS1):c.492T>C (p.Ser164=)
NM_001378454.1(ALMS1):c.4938T>G (p.Ala1646=) rs767547246
NM_001378454.1(ALMS1):c.495C>T (p.Ser165=)
NM_001378454.1(ALMS1):c.4980A>G (p.Val1660=)
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564
NM_001378454.1(ALMS1):c.4995C>T (p.Tyr1665=) rs762003836
NM_001378454.1(ALMS1):c.5007G>A (p.Gly1669=)
NM_001378454.1(ALMS1):c.5025C>T (p.Tyr1675=)
NM_001378454.1(ALMS1):c.5035C>T (p.Leu1679=)
NM_001378454.1(ALMS1):c.5079T>C (p.Pro1693=)
NM_001378454.1(ALMS1):c.5121A>G (p.Val1707=)
NM_001378454.1(ALMS1):c.5124C>T (p.Ser1708=)
NM_001378454.1(ALMS1):c.5133A>G (p.Leu1711=)
NM_001378454.1(ALMS1):c.5142T>C (p.Tyr1714=)
NM_001378454.1(ALMS1):c.5163C>T (p.Phe1721=)
NM_001378454.1(ALMS1):c.5176C>T (p.Leu1726=) rs373864798
NM_001378454.1(ALMS1):c.5178G>A (p.Leu1726=)
NM_001378454.1(ALMS1):c.5178G>T (p.Leu1726=)
NM_001378454.1(ALMS1):c.5181A>G (p.Pro1727=)
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly) rs201390755
NM_001378454.1(ALMS1):c.5199A>G (p.Gln1733=) rs374143515
NM_001378454.1(ALMS1):c.519T>A (p.Thr173=)
NM_001378454.1(ALMS1):c.519T>C (p.Thr173=)
NM_001378454.1(ALMS1):c.51G>A (p.Glu17=) rs1553396127
NM_001378454.1(ALMS1):c.5253A>G (p.Leu1751=)
NM_001378454.1(ALMS1):c.5256T>A (p.Ser1752=)
NM_001378454.1(ALMS1):c.5280A>G (p.Ser1760=)
NM_001378454.1(ALMS1):c.5292G>A (p.Lys1764=)
NM_001378454.1(ALMS1):c.5298T>C (p.Asn1766=)
NM_001378454.1(ALMS1):c.5310G>A (p.Gln1770=) rs778267451
NM_001378454.1(ALMS1):c.5328T>C (p.Ser1776=) rs745907642
NM_001378454.1(ALMS1):c.5332C>T (p.Leu1778=)
NM_001378454.1(ALMS1):c.5347C>T (p.Leu1783=) rs562434013
NM_001378454.1(ALMS1):c.5355T>G (p.Val1785=) rs1420283861
NM_001378454.1(ALMS1):c.537G>A (p.Thr179=)
NM_001378454.1(ALMS1):c.5394A>G (p.Val1798=)
NM_001378454.1(ALMS1):c.5447A>G (p.Tyr1816Cys) rs780110659
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu)
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.5532C>T (p.Asn1844=) rs369656698
NM_001378454.1(ALMS1):c.5541C>G (p.Pro1847=)
NM_001378454.1(ALMS1):c.5556A>G (p.Pro1852=) rs372017680
NM_001378454.1(ALMS1):c.5565G>A (p.Glu1855=) rs535259433
NM_001378454.1(ALMS1):c.558C>T (p.Asp186=) rs370228166
NM_001378454.1(ALMS1):c.5595G>A (p.Leu1865=)
NM_001378454.1(ALMS1):c.5625A>G (p.Ala1875=)
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.5765T>C (p.Val1922Ala)
NM_001378454.1(ALMS1):c.5780G>A (p.Gly1927Asp) rs886056304
NM_001378454.1(ALMS1):c.5820C>T (p.Tyr1940=)
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys) rs370398704
NM_001378454.1(ALMS1):c.5828G>A (p.Arg1943His) rs146669152
NM_001378454.1(ALMS1):c.5835G>A (p.Glu1945=)
NM_001378454.1(ALMS1):c.5841C>T (p.Pro1947=)
NM_001378454.1(ALMS1):c.588G>A (p.Thr196=)
NM_001378454.1(ALMS1):c.591A>G (p.Gln197=) rs373438786
NM_001378454.1(ALMS1):c.5937G>C (p.Gly1979=)
NM_001378454.1(ALMS1):c.5979A>G (p.Lys1993=)
NM_001378454.1(ALMS1):c.5982G>A (p.Glu1994=)
NM_001378454.1(ALMS1):c.5994T>A (p.Ile1998=)
NM_001378454.1(ALMS1):c.6003G>T (p.Val2001=)
NM_001378454.1(ALMS1):c.6054C>G (p.Ser2018=)
NM_001378454.1(ALMS1):c.6075C>A (p.Pro2025=)
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794
NM_001378454.1(ALMS1):c.6087T>C (p.Thr2029=)
NM_001378454.1(ALMS1):c.60G>A (p.Glu20=) rs183407241
NM_001378454.1(ALMS1):c.6117A>G (p.Pro2039=)
NM_001378454.1(ALMS1):c.6145T>A (p.Ser2049Thr) rs17848882
NM_001378454.1(ALMS1):c.6180G>A (p.Gln2060=)
NM_001378454.1(ALMS1):c.6201A>G (p.Gln2067=)
NM_001378454.1(ALMS1):c.6213T>C (p.Ile2071=)
NM_001378454.1(ALMS1):c.6216A>G (p.Leu2072=) rs754288227
NM_001378454.1(ALMS1):c.6219G>A (p.Lys2073=)
NM_001378454.1(ALMS1):c.6267A>C (p.Val2089=)
NM_001378454.1(ALMS1):c.6267A>G (p.Val2089=)
NM_001378454.1(ALMS1):c.6279T>C (p.Ser2093=) rs1572937640
NM_001378454.1(ALMS1):c.6302C>G (p.Ser2101Trp) rs28730854
NM_001378454.1(ALMS1):c.6303G>A (p.Ser2101=) rs555344566
NM_001378454.1(ALMS1):c.6405A>G (p.Pro2135=)
NM_001378454.1(ALMS1):c.6441A>G (p.Lys2147=) rs776254949
NM_001378454.1(ALMS1):c.646+10G>A rs1553399998
NM_001378454.1(ALMS1):c.646+8C>G rs760012033
NM_001378454.1(ALMS1):c.646+8C>T rs760012033
NM_001378454.1(ALMS1):c.647-19_647-18insT rs1553400422
NM_001378454.1(ALMS1):c.647-4A>G rs1553400427
NM_001378454.1(ALMS1):c.6474T>C (p.Asp2158=)
NM_001378454.1(ALMS1):c.6483A>G (p.Leu2161=)
NM_001378454.1(ALMS1):c.6495T>C (p.Ala2165=) rs189124891
NM_001378454.1(ALMS1):c.6498A>C (p.Leu2166=)
NM_001378454.1(ALMS1):c.6519G>A (p.Gly2173=)
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=) rs371511963
NM_001378454.1(ALMS1):c.6543A>G (p.Leu2181=) rs1553404267
NM_001378454.1(ALMS1):c.6615A>T (p.Leu2205=) rs375011895
NM_001378454.1(ALMS1):c.6633T>G (p.Ser2211=)
NM_001378454.1(ALMS1):c.668C>A (p.Ser223Tyr) rs886038615
NM_001378454.1(ALMS1):c.6747C>A (p.Ile2249=)
NM_001378454.1(ALMS1):c.6819A>G (p.Ala2273=)
NM_001378454.1(ALMS1):c.6820C>T (p.Leu2274=)
NM_001378454.1(ALMS1):c.6840T>G (p.Pro2280=) rs45580837
NM_001378454.1(ALMS1):c.6846C>T (p.Pro2282=)
NM_001378454.1(ALMS1):c.6948G>A (p.Leu2316=)
NM_001378454.1(ALMS1):c.6963A>G (p.Pro2321=)
NM_001378454.1(ALMS1):c.6966C>T (p.Phe2322=) rs370287018
NM_001378454.1(ALMS1):c.6984C>T (p.Ser2328=)
NM_001378454.1(ALMS1):c.7005T>C (p.Asp2335=) rs781592497
NM_001378454.1(ALMS1):c.7017G>A (p.Gln2339=) rs190319211
NM_001378454.1(ALMS1):c.7020G>A (p.Thr2340=) rs760756852
NM_001378454.1(ALMS1):c.7089A>G (p.Leu2363=)
NM_001378454.1(ALMS1):c.7125A>G (p.Glu2375=) rs1043215081
NM_001378454.1(ALMS1):c.7131T>C (p.Thr2377=)
NM_001378454.1(ALMS1):c.7140A>G (p.Gln2380=)
NM_001378454.1(ALMS1):c.7165A>C (p.Arg2389=)
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=) rs373972884
NM_001378454.1(ALMS1):c.7182G>A (p.Gly2394=) rs1572938646
NM_001378454.1(ALMS1):c.7182G>T (p.Gly2394=)
NM_001378454.1(ALMS1):c.7275C>T (p.Ser2425=)
NM_001378454.1(ALMS1):c.7281G>A (p.Ser2427=) rs200684911
NM_001378454.1(ALMS1):c.72G>A (p.Glu24=) rs1483677896
NM_001378454.1(ALMS1):c.7356C>T (p.Pro2452=) rs1290880090
NM_001378454.1(ALMS1):c.7395G>T (p.Val2465=)
NM_001378454.1(ALMS1):c.7398A>G (p.Ser2466=)
NM_001378454.1(ALMS1):c.7452A>G (p.Lys2484=)
NM_001378454.1(ALMS1):c.7473C>T (p.Ser2491=) rs1572938980
NM_001378454.1(ALMS1):c.7500C>T (p.Leu2500=) rs751719112
NM_001378454.1(ALMS1):c.7527G>A (p.Arg2509=)
NM_001378454.1(ALMS1):c.7540+10A>G
NM_001378454.1(ALMS1):c.7540+11A>G rs1553404509
NM_001378454.1(ALMS1):c.7540+14T>G rs533780922
NM_001378454.1(ALMS1):c.7540+20C>A rs1410444926
NM_001378454.1(ALMS1):c.7541-17G>C rs758134188
NM_001378454.1(ALMS1):c.7541-19G>A rs1553404624
NM_001378454.1(ALMS1):c.7541-6C>T rs1408073039
NM_001378454.1(ALMS1):c.7541-8C>T rs1553404629
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=) rs201478438
NM_001378454.1(ALMS1):c.75A>G (p.Glu25=)
NM_001378454.1(ALMS1):c.7635A>G (p.Ala2545=)
NM_001378454.1(ALMS1):c.764+14T>C rs1553400457
NM_001378454.1(ALMS1):c.764+19A>G rs1035974697
NM_001378454.1(ALMS1):c.764+9A>T rs551013858
NM_001378454.1(ALMS1):c.765-10A>G
NM_001378454.1(ALMS1):c.765-16A>G rs765256601
NM_001378454.1(ALMS1):c.765-6T>A rs755762723
NM_001378454.1(ALMS1):c.765-8A>G
NM_001378454.1(ALMS1):c.7650T>C (p.His2550=) rs756901095
NM_001378454.1(ALMS1):c.7653A>T (p.Gly2551=) rs1553404658
NM_001378454.1(ALMS1):c.7674+10A>G rs1553404676
NM_001378454.1(ALMS1):c.7674+9G>T rs1046548369
NM_001378454.1(ALMS1):c.7675-19G>A rs1399037677
NM_001378454.1(ALMS1):c.7675-9A>G
NM_001378454.1(ALMS1):c.7692G>C (p.Arg2564=)
NM_001378454.1(ALMS1):c.7695A>C (p.Gly2565=)
NM_001378454.1(ALMS1):c.7701A>T (p.Gly2567=)
NM_001378454.1(ALMS1):c.7710A>G (p.Pro2570=)
NM_001378454.1(ALMS1):c.7719A>G (p.Val2573=) rs561565809
NM_001378454.1(ALMS1):c.7743C>T (p.Ser2581=) rs370740871
NM_001378454.1(ALMS1):c.7752G>A (p.Lys2584=)
NM_001378454.1(ALMS1):c.7761C>T (p.Phe2587=) rs1553409598
NM_001378454.1(ALMS1):c.7764G>A (p.Arg2588=)
NM_001378454.1(ALMS1):c.7770A>G (p.Leu2590=)
NM_001378454.1(ALMS1):c.7803T>C (p.Pro2601=)
NM_001378454.1(ALMS1):c.7820C>G (p.Ala2607Gly) rs140223281
NM_001378454.1(ALMS1):c.7821T>C (p.Ala2607=) rs1034500469
NM_001378454.1(ALMS1):c.7839C>T (p.Thr2613=)
NM_001378454.1(ALMS1):c.783T>C (p.Ser261=) rs1572914265
NM_001378454.1(ALMS1):c.7893A>C (p.Ala2631=)
NM_001378454.1(ALMS1):c.78G>A (p.Glu26=)
NM_001378454.1(ALMS1):c.7917T>C (p.His2639=)
NM_001378454.1(ALMS1):c.7926T>C (p.Val2642=) rs749406009
NM_001378454.1(ALMS1):c.7935C>T (p.Ser2645=)
NM_001378454.1(ALMS1):c.7944A>G (p.Leu2648=) rs1407932856
NM_001378454.1(ALMS1):c.795A>G (p.Glu265=)
NM_001378454.1(ALMS1):c.7976C>G (p.Pro2659Arg) rs537509954
NM_001378454.1(ALMS1):c.8016C>T (p.Phe2672=)
NM_001378454.1(ALMS1):c.8031C>T (p.Asp2677=) rs754078506
NM_001378454.1(ALMS1):c.8052A>G (p.Val2684=)
NM_001378454.1(ALMS1):c.807A>G (p.Arg269=)
NM_001378454.1(ALMS1):c.8109G>A (p.Pro2703=) rs759983484
NM_001378454.1(ALMS1):c.810A>G (p.Pro270=)
NM_001378454.1(ALMS1):c.8139C>T (p.Thr2713=)
NM_001378454.1(ALMS1):c.8142C>T (p.Ser2714=) rs1572969339
NM_001378454.1(ALMS1):c.8163A>G (p.Arg2721=)
NM_001378454.1(ALMS1):c.8172A>G (p.Lys2724=)
NM_001378454.1(ALMS1):c.8211T>G (p.Thr2737=)
NM_001378454.1(ALMS1):c.821G>A (p.Ser274Asn) rs767513098
NM_001378454.1(ALMS1):c.8220C>T (p.Ser2740=)
NM_001378454.1(ALMS1):c.822T>C (p.Ser274=) rs145009331
NM_001378454.1(ALMS1):c.8244G>A (p.Gly2748=)
NM_001378454.1(ALMS1):c.8274A>G (p.Gln2758=) rs181226362
NM_001378454.1(ALMS1):c.8283C>T (p.Pro2761=)
NM_001378454.1(ALMS1):c.828T>C (p.Ala276=)
NM_001378454.1(ALMS1):c.8304C>A (p.Thr2768=)
NM_001378454.1(ALMS1):c.8310C>T (p.Ser2770=)
NM_001378454.1(ALMS1):c.8358T>G (p.Thr2786=)
NM_001378454.1(ALMS1):c.8379G>A (p.Arg2793=) rs559811855
NM_001378454.1(ALMS1):c.837G>A (p.Gln279=)
NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=) rs886038617
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254
NM_001378454.1(ALMS1):c.8469G>A (p.Glu2823=)
NM_001378454.1(ALMS1):c.846A>C (p.Ala282=)
NM_001378454.1(ALMS1):c.8472C>T (p.Pro2824=) rs1467835066
NM_001378454.1(ALMS1):c.8556C>T (p.Ser2852=)
NM_001378454.1(ALMS1):c.8562A>G (p.Leu2854=)
NM_001378454.1(ALMS1):c.8565A>C (p.Gly2855=)
NM_001378454.1(ALMS1):c.8577G>A (p.Ser2859=) rs199850691
NM_001378454.1(ALMS1):c.858A>G (p.Ser286=) rs748158586
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=)
NM_001378454.1(ALMS1):c.861C>T (p.Asp287=) rs377281121
NM_001378454.1(ALMS1):c.8622A>G (p.Pro2874=)
NM_001378454.1(ALMS1):c.8625T>C (p.Asp2875=)
NM_001378454.1(ALMS1):c.8655A>C (p.Arg2885=)
NM_001378454.1(ALMS1):c.8661C>G (p.Leu2887=)
NM_001378454.1(ALMS1):c.8688A>G (p.Ala2896=)
NM_001378454.1(ALMS1):c.8691T>C (p.Asp2897=)
NM_001378454.1(ALMS1):c.8703G>A (p.Arg2901=)
NM_001378454.1(ALMS1):c.8721T>C (p.Ser2907=) rs1386201636
NM_001378454.1(ALMS1):c.8727A>G (p.Gln2909=)
NM_001378454.1(ALMS1):c.8730T>C (p.His2910=) rs374693631
NM_001378454.1(ALMS1):c.8745T>A (p.Ala2915=)
NM_001378454.1(ALMS1):c.8779C>A (p.Arg2927=) rs376244626
NM_001378454.1(ALMS1):c.8799C>T (p.Cys2933=)
NM_001378454.1(ALMS1):c.8805C>A (p.Ala2935=)
NM_001378454.1(ALMS1):c.8811T>C (p.Tyr2937=) rs541559170
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=) rs367862140
NM_001378454.1(ALMS1):c.8901A>G (p.Glu2967=) rs371736476
NM_001378454.1(ALMS1):c.8918C>T (p.Ala2973Val) rs202110907
NM_001378454.1(ALMS1):c.8928A>G (p.Val2976=) rs373374154
NM_001378454.1(ALMS1):c.8958C>T (p.Pro2986=)
NM_001378454.1(ALMS1):c.8961T>A (p.Leu2987=)
NM_001378454.1(ALMS1):c.897G>A (p.Pro299=) rs1296000408
NM_001378454.1(ALMS1):c.8980G>A (p.Val2994Ile) rs45566838
NM_001378454.1(ALMS1):c.9006G>A (p.Lys3002=)
NM_001378454.1(ALMS1):c.900T>C (p.Leu300=)
NM_001378454.1(ALMS1):c.9018C>T (p.His3006=) rs376757358
NM_001378454.1(ALMS1):c.9042C>G (p.Ala3014=)
NM_001378454.1(ALMS1):c.9042C>T (p.Ala3014=)
NM_001378454.1(ALMS1):c.9048C>T (p.Phe3016=)
NM_001378454.1(ALMS1):c.90A>T (p.Ala30=)
NM_001378454.1(ALMS1):c.9111T>C (p.Pro3037=)
NM_001378454.1(ALMS1):c.9126A>G (p.Lys3042=)
NM_001378454.1(ALMS1):c.9138T>C (p.Cys3046=) rs779818117
NM_001378454.1(ALMS1):c.9162G>A (p.Lys3054=)
NM_001378454.1(ALMS1):c.9171C>T (p.Ser3057=)
NM_001378454.1(ALMS1):c.9174G>A (p.Lys3058=)
NM_001378454.1(ALMS1):c.9180T>C (p.Asp3060=) rs1572970568
NM_001378454.1(ALMS1):c.9210A>T (p.Ser3070=)
NM_001378454.1(ALMS1):c.9231G>A (p.Ala3077=)
NM_001378454.1(ALMS1):c.9252C>T (p.Asn3084=) rs1237573573
NM_001378454.1(ALMS1):c.9276G>A (p.Ser3092=) rs1462656920
NM_001378454.1(ALMS1):c.9309C>T (p.Thr3103=)
NM_001378454.1(ALMS1):c.9321A>G (p.Val3107=) rs371108940
NM_001378454.1(ALMS1):c.933T>C (p.Pro311=)
NM_001378454.1(ALMS1):c.9360A>G (p.Lys3120=) rs368408369
NM_001378454.1(ALMS1):c.9366A>C (p.Ser3122=)
NM_001378454.1(ALMS1):c.9375C>T (p.Phe3125=)
NM_001378454.1(ALMS1):c.9381C>T (p.Val3127=) rs754743943
NM_001378454.1(ALMS1):c.9384A>G (p.Val3128=) rs752453102
NM_001378454.1(ALMS1):c.93G>C (p.Ala31=)
NM_001378454.1(ALMS1):c.9465C>G (p.Ser3155=)
NM_001378454.1(ALMS1):c.9477A>G (p.Gln3159=)
NM_001378454.1(ALMS1):c.9480G>A (p.Val3160=) rs752405413
NM_001378454.1(ALMS1):c.9495C>T (p.Phe3165=)
NM_001378454.1(ALMS1):c.9522C>T (p.Thr3174=)
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly) rs563393715
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+13G>C rs369860432
NM_001378454.1(ALMS1):c.9539+20C>T rs759559244
NM_001378454.1(ALMS1):c.9540-16del rs765235024
NM_001378454.1(ALMS1):c.9564A>C (p.Pro3188=)
NM_001378454.1(ALMS1):c.9600A>C (p.Ala3200=) rs113808259
NM_001378454.1(ALMS1):c.9612A>C (p.Ile3204=) rs755456619
NM_001378454.1(ALMS1):c.9617C>T (p.Thr3206Ile) rs201624771
NM_001378454.1(ALMS1):c.9633G>A (p.Lys3211=) rs373013570
NM_001378454.1(ALMS1):c.9636C>A (p.Thr3212=)
NM_001378454.1(ALMS1):c.9636C>G (p.Thr3212=)
NM_001378454.1(ALMS1):c.9636C>T (p.Thr3212=) rs749283920
NM_001378454.1(ALMS1):c.9639A>G (p.Leu3213=) rs566943393
NM_001378454.1(ALMS1):c.9645A>G (p.Ser3215=)
NM_001378454.1(ALMS1):c.9654T>C (p.Ile3218=)
NM_001378454.1(ALMS1):c.9672T>C (p.Asp3224=)
NM_001378454.1(ALMS1):c.9678A>G (p.Gly3226=)
NM_001378454.1(ALMS1):c.9711A>G (p.Leu3237=)
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys) rs201252375
NM_001378454.1(ALMS1):c.9723T>C (p.Pro3241=)
NM_001378454.1(ALMS1):c.9726C>G (p.Val3242=)
NM_001378454.1(ALMS1):c.9729G>A (p.Lys3243=)
NM_001378454.1(ALMS1):c.9741A>G (p.Ser3247=) rs370844317
NM_001378454.1(ALMS1):c.9747A>G (p.Ser3249=)
NM_001378454.1(ALMS1):c.9771C>T (p.Arg3257=)
NM_001378454.1(ALMS1):c.9777A>C (p.Thr3259=) rs183325464
NM_001378454.1(ALMS1):c.9781+11G>A rs970258030
NM_001378454.1(ALMS1):c.9781+19A>C rs895296631
NM_001378454.1(ALMS1):c.9782-18T>C rs995894081
NM_001378454.1(ALMS1):c.9782-6C>T rs1414733616
NM_001378454.1(ALMS1):c.9786G>A (p.Gln3262=) rs757139660
NM_001378454.1(ALMS1):c.9801A>G (p.Pro3267=)
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=) rs201446579
NM_001378454.1(ALMS1):c.9822C>T (p.Thr3274=)
NM_001378454.1(ALMS1):c.9834T>C (p.Tyr3278=) rs1573000972
NM_001378454.1(ALMS1):c.9840A>C (p.Pro3280=)
NM_001378454.1(ALMS1):c.9843A>G (p.Gln3281=) rs1573000980
NM_001378454.1(ALMS1):c.9852A>G (p.Gln3284=) rs1558684497
NM_001378454.1(ALMS1):c.9861A>G (p.Pro3287=) rs114687298
NM_001378454.1(ALMS1):c.9870T>C (p.Asp3290=)
NM_001378454.1(ALMS1):c.9876A>G (p.Lys3292=)
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His) rs200441305
NM_001378454.1(ALMS1):c.9885C>T (p.Thr3295=) rs1455531770
NM_001378454.1(ALMS1):c.9888C>T (p.Thr3296=) rs372451785
NM_001378454.1(ALMS1):c.988C>T (p.Leu330=) rs187880759
NM_001378454.1(ALMS1):c.9897C>T (p.Ser3299=) rs1217540541
NM_001378454.1(ALMS1):c.9907+14A>G rs1402624178
NM_001378454.1(ALMS1):c.9907+17A>C rs772675597
NM_001378454.1(ALMS1):c.9907+17A>G rs772675597
NM_001378454.1(ALMS1):c.9907+20C>A rs74730457
NM_001378454.1(ALMS1):c.9907+7T>G rs375870610
NM_001378454.1(ALMS1):c.9907+8G>A
NM_001378454.1(ALMS1):c.9908-12G>A rs376627151
NM_001378454.1(ALMS1):c.9908-13C>T rs373325114
NM_001378454.1(ALMS1):c.996T>C (p.Ile332=) rs760947833
NM_001378454.1(ALMS1):c.9987C>T (p.Asn3329=)
NM_001378454.1(ALMS1):c.9C>T (p.Pro3=)
NM_015120.4(ALMS1):c.-39CTC[4] rs746980000
NM_015120.4(ALMS1):c.84_87delinsA (p.Glu29del) rs1553396167

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