ClinVar Miner

List of variants studied for Alstrom syndrome by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 688
Download table as spreadsheet
HGVS dbSNP
NM_001378454.1(ALMS1):c.-12C>G rs1553396082
NM_001378454.1(ALMS1):c.-16A>G rs746944958
NM_001378454.1(ALMS1):c.-19C>T rs1553396078
NM_001378454.1(ALMS1):c.-1C>T rs756956183
NM_001378454.1(ALMS1):c.-20G>A rs935547269
NM_001378454.1(ALMS1):c.-7C>T rs1296403299
NM_001378454.1(ALMS1):c.-8dup rs1553396085
NM_001378454.1(ALMS1):c.-9G>A rs1553396083
NM_001378454.1(ALMS1):c.10043del (p.Pro3348fs) rs1553416233
NM_001378454.1(ALMS1):c.1006T>C (p.Cys336Arg) rs746923506
NM_001378454.1(ALMS1):c.10078+10T>C rs752454047
NM_001378454.1(ALMS1):c.10078+2dup rs755740074
NM_001378454.1(ALMS1):c.10079-10G>A rs778996015
NM_001378454.1(ALMS1):c.10079-11C>A rs368250605
NM_001378454.1(ALMS1):c.10079-19A>G rs935864365
NM_001378454.1(ALMS1):c.10079-1G>C rs1361885101
NM_001378454.1(ALMS1):c.10079-4C>G rs1446726516
NM_001378454.1(ALMS1):c.10081G>T (p.Ala3361Ser) rs770904502
NM_001378454.1(ALMS1):c.10108G>A (p.Asp3370Asn) rs751123703
NM_001378454.1(ALMS1):c.10131dup (p.Gln3378fs) rs1553416867
NM_001378454.1(ALMS1):c.10140G>C (p.Glu3380Asp) rs1045473444
NM_001378454.1(ALMS1):c.10177G>A (p.Ala3393Thr) rs145678202
NM_001378454.1(ALMS1):c.10177G>C (p.Ala3393Pro) rs145678202
NM_001378454.1(ALMS1):c.10213+11T>C rs1553416883
NM_001378454.1(ALMS1):c.10213+17G>C rs1553416885
NM_001378454.1(ALMS1):c.10213+1G>A rs374681570
NM_001378454.1(ALMS1):c.10213+3A>G rs1553416881
NM_001378454.1(ALMS1):c.10214-11C>G rs1365430683
NM_001378454.1(ALMS1):c.10214-19G>A rs763103896
NM_001378454.1(ALMS1):c.10214-5C>T rs751591632
NM_001378454.1(ALMS1):c.10221TGC[6] (p.Ala3412dup) rs760731440
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.10269GAA[1] (p.Lys3424del) rs1184260245
NM_001378454.1(ALMS1):c.10287_10288del (p.Lys3430fs) rs1553417044
NM_001378454.1(ALMS1):c.10304A>G (p.Lys3435Arg) rs187607395
NM_001378454.1(ALMS1):c.10316A>G (p.His3439Arg) rs139425340
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly) rs746702722
NM_001378454.1(ALMS1):c.10333C>T (p.Pro3445Ser) rs267599448
NM_001378454.1(ALMS1):c.10334C>T (p.Pro3445Leu) rs1170663588
NM_001378454.1(ALMS1):c.10368A>G (p.Leu3456=) rs929142880
NM_001378454.1(ALMS1):c.10374C>G (p.Ile3458Met) rs767799669
NM_001378454.1(ALMS1):c.10384+1G>A rs766366221
NM_001378454.1(ALMS1):c.10384+2dup rs1255846889
NM_001378454.1(ALMS1):c.10384+3A>G rs752727300
NM_001378454.1(ALMS1):c.10384+5T>C rs758235228
NM_001378454.1(ALMS1):c.10385-7T>G rs1298945759
NM_001378454.1(ALMS1):c.10385-9C>T rs568809052
NM_001378454.1(ALMS1):c.10389C>T (p.Ser3463=) rs760299487
NM_001378454.1(ALMS1):c.1041A>G (p.Ser347=) rs1553400737
NM_001378454.1(ALMS1):c.10427T>C (p.Val3476Ala) rs750128969
NM_001378454.1(ALMS1):c.10458_10466dup (p.Pro3487_His3489dup) rs1553418413
NM_001378454.1(ALMS1):c.10461C>T (p.Pro3487=) rs202036843
NM_001378454.1(ALMS1):c.10467C>T (p.His3489=) rs371631738
NM_001378454.1(ALMS1):c.10481A>G (p.Gln3494Arg) rs1553418430
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter) rs1275113273
NM_001378454.1(ALMS1):c.10535_10536insTGTCTTTCCAAGATTGGAA (p.Lys3512fs) rs1220975714
NM_001378454.1(ALMS1):c.10544_10545insCA (p.Gln3516fs) rs1553418449
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter) rs375019820
NM_001378454.1(ALMS1):c.10571_10572insCACATAGAGA (p.Glu3524delinsAspThrTer) rs1553418457
NM_001378454.1(ALMS1):c.1061C>T (p.Thr354Ile) rs370726988
NM_001378454.1(ALMS1):c.10625A>G (p.Tyr3542Cys) rs761771973
NM_001378454.1(ALMS1):c.10630A>G (p.Arg3544Gly) rs773075850
NM_001378454.1(ALMS1):c.10651A>G (p.Asn3551Asp) rs200992340
NM_001378454.1(ALMS1):c.10731T>C (p.Ile3577=) rs1553418487
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs) rs1218465638
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs) rs1553418500
NM_001378454.1(ALMS1):c.10813dup (p.Tyr3605fs) rs1553418505
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter) rs1192396248
NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs) rs755616266
NM_001378454.1(ALMS1):c.10836dup (p.Arg3613fs) rs1553418512
NM_001378454.1(ALMS1):c.10844del (p.Pro3615fs) rs1553418513
NM_001378454.1(ALMS1):c.10860G>A (p.Arg3620=) rs373682259
NM_001378454.1(ALMS1):c.10862A>G (p.Lys3621Arg) rs1288339942
NM_001378454.1(ALMS1):c.10973G>A (p.Arg3658Gln) rs781344338
NM_001378454.1(ALMS1):c.10985A>G (p.Glu3662Gly) rs377418428
NM_001378454.1(ALMS1):c.10G>T (p.Glu4Ter) rs1553396092
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile) rs549757247
NM_001378454.1(ALMS1):c.11032C>T (p.Arg3678Trp) rs766771102
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs) rs1412574975
NM_001378454.1(ALMS1):c.11105G>A (p.Arg3702Gln) rs188864796
NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter) rs367877017
NM_001378454.1(ALMS1):c.11204C>T (p.Ser3735Leu) rs367877017
NM_001378454.1(ALMS1):c.11210G>A (p.Cys3737Tyr) rs1553418562
NM_001378454.1(ALMS1):c.11213G>A (p.Arg3738Gln) rs200378498
NM_001378454.1(ALMS1):c.11263T>A (p.Ser3755Thr) rs878854995
NM_001378454.1(ALMS1):c.11284G>A (p.Glu3762Lys) rs1243181452
NM_001378454.1(ALMS1):c.11309A>G (p.Asp3770Gly) rs770147613
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) rs747272625
NM_001378454.1(ALMS1):c.11414G>A (p.Arg3805Gln) rs201646938
NM_001378454.1(ALMS1):c.11440A>G (p.Asn3814Asp) rs369256893
NM_001378454.1(ALMS1):c.11441A>C (p.Asn3814Thr) rs763907736
NM_001378454.1(ALMS1):c.11457C>T (p.Tyr3819=) rs373397289
NM_001378454.1(ALMS1):c.11477A>G (p.His3826Arg) rs371105298
NM_001378454.1(ALMS1):c.11511A>G (p.Leu3837=) rs374164508
NM_001378454.1(ALMS1):c.11516C>T (p.Thr3839Ile) rs376255515
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+1G>A rs1553418638
NM_001378454.1(ALMS1):c.11547+4C>T rs753353269
NM_001378454.1(ALMS1):c.11547+5A>C rs1181494101
NM_001378454.1(ALMS1):c.11547+7G>C rs1553418641
NM_001378454.1(ALMS1):c.11548-19A>T rs760271173
NM_001378454.1(ALMS1):c.11548-3T>C rs555547573
NM_001378454.1(ALMS1):c.11559T>A (p.His3853Gln) rs186141821
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr) rs368957150
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.11616dup (p.Thr3873fs) rs1553421488
NM_001378454.1(ALMS1):c.11626A>G (p.Asn3876Asp) rs377130177
NM_001378454.1(ALMS1):c.11646_11648dup (p.Leu3883dup) rs1468861836
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs) rs760264695
NM_001378454.1(ALMS1):c.11667del (p.Gly3890fs) rs1553421496
NM_001378454.1(ALMS1):c.11668+12A>G rs1553421500
NM_001378454.1(ALMS1):c.11668+17A>G rs201109126
NM_001378454.1(ALMS1):c.11668+6T>G rs1553421499
NM_001378454.1(ALMS1):c.11669-11del rs1261279730
NM_001378454.1(ALMS1):c.11669-12C>T rs774970704
NM_001378454.1(ALMS1):c.11669-14A>G rs768036112
NM_001378454.1(ALMS1):c.11669-17A>G rs762591261
NM_001378454.1(ALMS1):c.11669-1G>A rs750737346
NM_001378454.1(ALMS1):c.11669-3C>T rs767901840
NM_001378454.1(ALMS1):c.11669-7C>A rs548573570
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs) rs1553421626
NM_001378454.1(ALMS1):c.11705C>G (p.Thr3902Ser) rs369008610
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs) rs932538480
NM_001378454.1(ALMS1):c.11742C>T (p.Ser3914=) rs374909171
NM_001378454.1(ALMS1):c.11755T>C (p.Leu3919=) rs750372739
NM_001378454.1(ALMS1):c.11777CTT[1] (p.Ser3927del) rs1553421645
NM_001378454.1(ALMS1):c.11778T>C (p.Thr3926=) rs368160921
NM_001378454.1(ALMS1):c.11798G>A (p.Arg3933His) rs45576434
NM_001378454.1(ALMS1):c.1179A>T (p.Ser393=) rs765376715
NM_001378454.1(ALMS1):c.11809dup (p.Met3937fs) rs757722767
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+2T>A rs1553421657
NM_001378454.1(ALMS1):c.11872+7T>A rs763235048
NM_001378454.1(ALMS1):c.11872+9C>G rs768886966
NM_001378454.1(ALMS1):c.11873-11G>A rs571456553
NM_001378454.1(ALMS1):c.11873-11G>T rs571456553
NM_001378454.1(ALMS1):c.11873-4G>A rs1553421697
NM_001378454.1(ALMS1):c.11873-6C>T rs749542120
NM_001378454.1(ALMS1):c.11873-7C>T rs1553421696
NM_001378454.1(ALMS1):c.1188G>A (p.Gln396=) rs368655814
NM_001378454.1(ALMS1):c.11893G>T (p.Val3965Leu) rs199683521
NM_001378454.1(ALMS1):c.11897A>T (p.Glu3966Val) rs377523400
NM_001378454.1(ALMS1):c.11929G>A (p.Val3977Met) rs185423930
NM_001378454.1(ALMS1):c.1192dup (p.Trp398fs) rs1553400778
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.11971A>G (p.Ile3991Val) rs368146962
NM_001378454.1(ALMS1):c.11994G>C (p.Arg3998Ser) rs28730862
NM_001378454.1(ALMS1):c.1199A>G (p.Gln400Arg) rs372747251
NM_001378454.1(ALMS1):c.12005G>A (p.Arg4002Gln) rs375923289
NM_001378454.1(ALMS1):c.12016T>C (p.Cys4006Arg) rs201959964
NM_001378454.1(ALMS1):c.12036C>A (p.Asp4012Glu) rs370981817
NM_001378454.1(ALMS1):c.12075del (p.Arg4026fs) rs1553421739
NM_001378454.1(ALMS1):c.12083_12086del (p.Leu4028fs) rs1553421741
NM_001378454.1(ALMS1):c.12090_12101del (p.Pro4031_Arg4034del) rs1245181381
NM_001378454.1(ALMS1):c.12104_12105del (p.Ala4035fs) rs1553421752
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+1G>T rs376719320
NM_001378454.1(ALMS1):c.12114+3_12114+12del rs1348254028
NM_001378454.1(ALMS1):c.12114+4C>T rs373191489
NM_001378454.1(ALMS1):c.12115-8T>C rs78455676
NM_001378454.1(ALMS1):c.12136C>T (p.Pro4046Ser) rs371269253
NM_001378454.1(ALMS1):c.12147C>T (p.Ile4049=) rs374328093
NM_001378454.1(ALMS1):c.12150C>A (p.Ser4050=) rs1553421877
NM_001378454.1(ALMS1):c.12172C>T (p.Arg4058Cys) rs1270753573
NM_001378454.1(ALMS1):c.12173G>A (p.Arg4058His) rs61743400
NM_001378454.1(ALMS1):c.12174C>T (p.Arg4058=) rs377661858
NM_001378454.1(ALMS1):c.12175_12177delinsTT (p.Lys4060fs) rs1553421886
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=) rs199603690
NM_001378454.1(ALMS1):c.12219G>T (p.Gln4073His) rs878854996
NM_001378454.1(ALMS1):c.12226C>T (p.Arg4076Trp) rs368113488
NM_001378454.1(ALMS1):c.12227G>A (p.Arg4076Gln) rs200814417
NM_001378454.1(ALMS1):c.12251G>T (p.Arg4084Met) rs375314465
NM_001378454.1(ALMS1):c.12284C>T (p.Pro4095Leu) rs750502331
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.12299-14C>T rs1352077204
NM_001378454.1(ALMS1):c.12299-15T>C rs1553422033
NM_001378454.1(ALMS1):c.12299-15_12299-12del rs775452962
NM_001378454.1(ALMS1):c.12299-1G>A rs1313101326
NM_001378454.1(ALMS1):c.12299-3T>C rs1553422034
NM_001378454.1(ALMS1):c.12299-6G>A rs771317399
NM_001378454.1(ALMS1):c.1229_1230del (p.Tyr410fs) rs764503373
NM_001378454.1(ALMS1):c.12302_12305del (p.Phe4101fs) rs1553422035
NM_001378454.1(ALMS1):c.12330C>G (p.Ile4110Met) rs375524122
NM_001378454.1(ALMS1):c.12350A>G (p.Gln4117Arg) rs200038446
NM_001378454.1(ALMS1):c.12362+16C>G rs1553422061
NM_001378454.1(ALMS1):c.12362+18A>T rs535484933
NM_001378454.1(ALMS1):c.12362G>A (p.Arg4121Gln) rs376602261
NM_001378454.1(ALMS1):c.12363-12G>A rs749504196
NM_001378454.1(ALMS1):c.12363-14G>A rs377374398
NM_001378454.1(ALMS1):c.12363-6T>G rs1553422641
NM_001378454.1(ALMS1):c.1237+14T>C rs1482335275
NM_001378454.1(ALMS1):c.1237+2T>C rs916056435
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.1238-11C>G rs1553400951
NM_001378454.1(ALMS1):c.1238-11C>T rs1553400951
NM_001378454.1(ALMS1):c.1238-20A>G rs771811655
NM_001378454.1(ALMS1):c.12389A>G (p.Gln4130Arg) rs371587051
NM_001378454.1(ALMS1):c.12394_12397dup (p.Arg4133fs) rs776401197
NM_001378454.1(ALMS1):c.12398_12401del (p.Arg4133fs) rs761223068
NM_001378454.1(ALMS1):c.12436C>T (p.Arg4146Trp) rs763519566
NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter) rs192496253
NM_001378454.1(ALMS1):c.12447C>T (p.Ala4149=) rs374020124
NM_001378454.1(ALMS1):c.12461del (p.Lys4154fs) rs1553422659
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.12462+1del rs750907119
NM_001378454.1(ALMS1):c.12462+3C>T rs1553422676
NM_001378454.1(ALMS1):c.12462+5G>A rs1553422678
NM_001378454.1(ALMS1):c.12463-10T>C rs754172101
NM_001378454.1(ALMS1):c.12463-11_12463-7del rs1553422758
NM_001378454.1(ALMS1):c.12463-14C>G rs766656843
NM_001378454.1(ALMS1):c.12463-9C>G rs1553422761
NM_001378454.1(ALMS1):c.1247del (p.Gln416fs) rs1553400956
NM_001378454.1(ALMS1):c.12496C>T (p.Pro4166Ser) rs267599450
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.1339-12G>T rs1260375872
NM_001378454.1(ALMS1):c.1339-20C>T rs1553401589
NM_001378454.1(ALMS1):c.1339-3A>C rs572922738
NM_001378454.1(ALMS1):c.1339-5A>G rs373469023
NM_001378454.1(ALMS1):c.1339-5A>T rs373469023
NM_001378454.1(ALMS1):c.1339-6C>T rs1553401597
NM_001378454.1(ALMS1):c.1339-8C>T rs1553401596
NM_001378454.1(ALMS1):c.1339C>G (p.Pro447Ala) rs377283762
NM_001378454.1(ALMS1):c.137_139del (p.Val46del) rs1553396198
NM_001378454.1(ALMS1):c.137_145dup (p.43VEE[3]) rs1286794312
NM_001378454.1(ALMS1):c.1426_1431del (p.Lys476_Ala477del) rs1553401631
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+1G>T rs1553401634
NM_001378454.1(ALMS1):c.1432+2_1432+15del rs1203193062
NM_001378454.1(ALMS1):c.1432+4C>T rs200933935
NM_001378454.1(ALMS1):c.1432+5G>A rs755613962
NM_001378454.1(ALMS1):c.1432+7A>G rs1468328132
NM_001378454.1(ALMS1):c.1433-14C>A rs1553403232
NM_001378454.1(ALMS1):c.1433-3T>C rs367710998
NM_001378454.1(ALMS1):c.1437C>T (p.Asp479=) rs372610345
NM_001378454.1(ALMS1):c.1557del (p.Gln519fs) rs1553403262
NM_001378454.1(ALMS1):c.1610_1611del (p.Leu537fs) rs1553403282
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter) rs755760721
NM_001378454.1(ALMS1):c.1695T>C (p.Thr565=) rs368992526
NM_001378454.1(ALMS1):c.1710A>C (p.Val570=) rs201095989
NM_001378454.1(ALMS1):c.1717A>G (p.Ser573Gly) rs143478466
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179
NM_001378454.1(ALMS1):c.1758G>A (p.Gln586=) rs377037998
NM_001378454.1(ALMS1):c.1854C>T (p.Thr618=) rs1327400351
NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys) rs193922693
NM_001378454.1(ALMS1):c.188_189delinsC (p.Gln63fs) rs1553396238
NM_001378454.1(ALMS1):c.1977G>A (p.Thr659=) rs201316401
NM_001378454.1(ALMS1):c.1999A>G (p.Thr667Ala) rs28730850
NM_001378454.1(ALMS1):c.1_9del (p.Met1_Pro3del) rs1553396088
NM_001378454.1(ALMS1):c.2022C>T (p.Asp674=) rs374151754
NM_001378454.1(ALMS1):c.204_212del (p.Ile68_Glu71delinsMet) rs1553396244
NM_001378454.1(ALMS1):c.207C>T (p.Asp69=) rs752874408
NM_001378454.1(ALMS1):c.209ACGAGGAGG[1] (p.70DEE[1]) rs772848105
NM_001378454.1(ALMS1):c.209ACGAGGAGG[3] (p.70DEE[3]) rs772848105
NM_001378454.1(ALMS1):c.20del (p.Pro7fs) rs1340135231
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=) rs750362630
NM_001378454.1(ALMS1):c.2128A>G (p.Thr710Ala) rs367641723
NM_001378454.1(ALMS1):c.2130_2134del (p.Val711fs) rs1553403401
NM_001378454.1(ALMS1):c.2134C>G (p.Leu712Val) rs371524359
NM_001378454.1(ALMS1):c.2137T>C (p.Ser713Pro) rs1248095655
NM_001378454.1(ALMS1):c.2138C>G (p.Ser713Cys) rs771496254
NM_001378454.1(ALMS1):c.2152C>T (p.His718Tyr) rs199572177
NM_001378454.1(ALMS1):c.2155A>G (p.Arg719Gly) rs1446915143
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs) rs771459937
NM_001378454.1(ALMS1):c.2179CAA[1] (p.Gln728del) rs1553403420
NM_001378454.1(ALMS1):c.2196C>T (p.Asp732=) rs754758293
NM_001378454.1(ALMS1):c.2221dup (p.Thr741fs) rs769291842
NM_001378454.1(ALMS1):c.2293T>C (p.Ser765Pro) rs373936479
NM_001378454.1(ALMS1):c.2293_2296del (p.Ser765fs) rs1457500348
NM_001378454.1(ALMS1):c.2296C>A (p.Gln766Lys) rs377000488
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu) rs187132771
NM_001378454.1(ALMS1):c.234C>G (p.Ala78=) rs368947491
NM_001378454.1(ALMS1):c.2374G>C (p.Ala792Pro) rs1181372708
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala) rs772260271
NM_001378454.1(ALMS1):c.2420C>G (p.Pro807Arg) rs372717861
NM_001378454.1(ALMS1):c.2434T>G (p.Ser812Ala) rs376991574
NM_001378454.1(ALMS1):c.2443G>C (p.Glu815Gln) rs370978261
NM_001378454.1(ALMS1):c.2472C>G (p.Ala824=) rs368270850
NM_001378454.1(ALMS1):c.2486A>G (p.His829Arg) rs370830603
NM_001378454.1(ALMS1):c.2494G>A (p.Glu832Lys) rs373979607
NM_001378454.1(ALMS1):c.2521T>C (p.Ser841Pro) rs949198387
NM_001378454.1(ALMS1):c.2629A>G (p.Asn877Asp) rs776351580
NM_001378454.1(ALMS1):c.2680G>T (p.Gly894Cys) rs374262388
NM_001378454.1(ALMS1):c.2686C>G (p.Gln896Glu) rs376834704
NM_001378454.1(ALMS1):c.2739G>C (p.Lys913Asn) rs373378385
NM_001378454.1(ALMS1):c.2743A>G (p.Ile915Val) rs200704524
NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs) rs1230351650
NM_001378454.1(ALMS1):c.2753C>G (p.Ser918Cys) rs369228801
NM_001378454.1(ALMS1):c.2790dup (p.Ala931fs) rs1553403560
NM_001378454.1(ALMS1):c.2817A>G (p.Val939=) rs376517753
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter) rs750326619
NM_001378454.1(ALMS1):c.2848G>T (p.Val950Leu) rs370733145
NM_001378454.1(ALMS1):c.2849T>C (p.Val950Ala) rs374139959
NM_001378454.1(ALMS1):c.284dup (p.His96fs) rs1553396293
NM_001378454.1(ALMS1):c.2880A>G (p.Lys960=) rs1238528749
NM_001378454.1(ALMS1):c.28G>A (p.Gly10Ser) rs1045405319
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.296C>A (p.Ser99Ter) rs1553396296
NM_001378454.1(ALMS1):c.2990C>T (p.Thr997Ile) rs1240072348
NM_001378454.1(ALMS1):c.2T>G (p.Met1Arg) rs1553396091
NM_001378454.1(ALMS1):c.3013C>T (p.His1005Tyr) rs1039388814
NM_001378454.1(ALMS1):c.3038A>G (p.Tyr1013Cys) rs371893544
NM_001378454.1(ALMS1):c.3041_3042delinsT (p.Gln1014fs) rs1553403598
NM_001378454.1(ALMS1):c.3096C>A (p.Gly1032=) rs368659119
NM_001378454.1(ALMS1):c.3117G>T (p.Lys1039Asn) rs748646844
NM_001378454.1(ALMS1):c.3120T>A (p.Thr1040=) rs372764773
NM_001378454.1(ALMS1):c.3127C>T (p.Pro1043Ser) rs376987487
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+4A>G rs1553396304
NM_001378454.1(ALMS1):c.324+7C>G rs1230102179
NM_001378454.1(ALMS1):c.325-15_325-13del rs1553398832
NM_001378454.1(ALMS1):c.325-1G>A rs764337753
NM_001378454.1(ALMS1):c.325-6T>C rs760582213
NM_001378454.1(ALMS1):c.325-8A>C rs200740825
NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His) rs181507134
NM_001378454.1(ALMS1):c.3268C>G (p.Pro1090Ala) rs376232524
NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu) rs766187468
NM_001378454.1(ALMS1):c.329T>C (p.Val110Ala) rs1193275022
NM_001378454.1(ALMS1):c.32dup (p.Leu12fs) rs1553396098
NM_001378454.1(ALMS1):c.3324A>G (p.Gln1108=) rs780391682
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs) rs1553403656
NM_001378454.1(ALMS1):c.3395A>G (p.Gln1132Arg) rs202114540
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala) rs201884768
NM_001378454.1(ALMS1):c.3472G>A (p.Ala1158Thr) rs376302473
NM_001378454.1(ALMS1):c.3478C>T (p.Pro1160Ser) rs1164554577
NM_001378454.1(ALMS1):c.3489_3498del (p.His1163fs) rs1553403685
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter) rs751804613
NM_001378454.1(ALMS1):c.3578C>T (p.Ser1193Leu) rs200636395
NM_001378454.1(ALMS1):c.359_360del (p.Ile120fs) rs1553398842
NM_001378454.1(ALMS1):c.360_361insTATCAAGTATATCAA (p.Val121_Tyr122insTyrGlnValTyrGln) rs1553398843
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs) rs1296683633
NM_001378454.1(ALMS1):c.3700C>T (p.Pro1234Ser) rs777259139
NM_001378454.1(ALMS1):c.375TAG[1] (p.Ser126del) rs760942576
NM_001378454.1(ALMS1):c.3815_3817del (p.Val1272del) rs954466797
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.3838G>A (p.Ala1280Thr) rs767729719
NM_001378454.1(ALMS1):c.3873_3874del (p.Lys1292fs) rs1553403762
NM_001378454.1(ALMS1):c.3907AGT[1] (p.Ser1304del) rs775132874
NM_001378454.1(ALMS1):c.4045C>T (p.Pro1349Ser) rs1553403796
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala) rs760866713
NM_001378454.1(ALMS1):c.4150C>T (p.His1384Tyr) rs1228297685
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228
NM_001378454.1(ALMS1):c.4163C>T (p.Pro1388Leu) rs377354387
NM_001378454.1(ALMS1):c.4181A>G (p.Gln1394Arg) rs368955191
NM_001378454.1(ALMS1):c.4231G>A (p.Val1411Ile) rs1553403843
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs) rs1553403851
NM_001378454.1(ALMS1):c.4250G>A (p.Arg1417Gln) rs771362238
NM_001378454.1(ALMS1):c.4267A>T (p.Thr1423Ser) rs746145270
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter) rs150825781
NM_001378454.1(ALMS1):c.4324G>T (p.Val1442Phe) rs375842278
NM_001378454.1(ALMS1):c.4331del (p.Pro1444fs) rs1553403864
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter) rs778728424
NM_001378454.1(ALMS1):c.43_44insGGG (p.Glu15_Glu16insGly) rs778948871
NM_001378454.1(ALMS1):c.43_44insTGGAGGAGGAGG (p.Glu15_Glu16insValGluGluGlu) rs1553396123
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr) rs373638043
NM_001378454.1(ALMS1):c.4425del (p.Ser1476fs) rs1553403882
NM_001378454.1(ALMS1):c.4448T>C (p.Ile1483Thr) rs370271775
NM_001378454.1(ALMS1):c.4464G>A (p.Gln1488=) rs770845249
NM_001378454.1(ALMS1):c.4483C>G (p.Leu1495Val) rs373213201
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+3A>G rs1371008925
NM_001378454.1(ALMS1):c.450+7C>A rs775200355
NM_001378454.1(ALMS1):c.451-12A>G rs1274254541
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.451-5T>G rs774098604
NM_001378454.1(ALMS1):c.4616T>C (p.Leu1539Pro) rs368273962
NM_001378454.1(ALMS1):c.4626A>C (p.Gln1542His) rs201603580
NM_001378454.1(ALMS1):c.465G>C (p.Trp155Cys) rs1414087888
NM_001378454.1(ALMS1):c.4730C>A (p.Pro1577Gln) rs148568833
NM_001378454.1(ALMS1):c.4827C>T (p.Asp1609=) rs371708421
NM_001378454.1(ALMS1):c.4843T>A (p.Leu1615Ile) rs375736124
NM_001378454.1(ALMS1):c.4857A>G (p.Ala1619=) rs367772965
NM_001378454.1(ALMS1):c.485T>C (p.Met162Thr) rs371903967
NM_001378454.1(ALMS1):c.4872C>T (p.Pro1624=) rs372692493
NM_001378454.1(ALMS1):c.4914_4917del (p.Asn1638fs) rs779366889
NM_001378454.1(ALMS1):c.4943C>G (p.Pro1648Arg) rs372540975
NM_001378454.1(ALMS1):c.5010_5032del (p.Lys1670fs) rs1553403989
NM_001378454.1(ALMS1):c.5035C>G (p.Leu1679Val) rs760829019
NM_001378454.1(ALMS1):c.5095G>A (p.Ala1699Thr) rs1553404004
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379
NM_001378454.1(ALMS1):c.5174C>A (p.Ala1725Asp) rs764135516
NM_001378454.1(ALMS1):c.5176C>T (p.Leu1726=) rs373864798
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs) rs1553404020
NM_001378454.1(ALMS1):c.5194A>T (p.Thr1732Ser) rs370735089
NM_001378454.1(ALMS1):c.5196_5197del (p.Gln1733fs) rs1553404028
NM_001378454.1(ALMS1):c.5198AAG[1] (p.Glu1734del) rs1553404031
NM_001378454.1(ALMS1):c.5199A>G (p.Gln1733=) rs374143515
NM_001378454.1(ALMS1):c.51G>A (p.Glu17=) rs1553396127
NM_001378454.1(ALMS1):c.51_52insAAGGAG (p.Glu18_Glu19insLysGlu) rs1553396125
NM_001378454.1(ALMS1):c.5347C>T (p.Leu1783=) rs562434013
NM_001378454.1(ALMS1):c.536C>T (p.Thr179Met) rs768531502
NM_001378454.1(ALMS1):c.5415del (p.Tyr1806fs) rs1553404066
NM_001378454.1(ALMS1):c.5417A>G (p.Tyr1806Cys) rs374046216
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu) rs200266868
NM_001378454.1(ALMS1):c.5462del (p.Pro1821fs) rs770264966
NM_001378454.1(ALMS1):c.5484G>T (p.Leu1828Phe) rs376996058
NM_001378454.1(ALMS1):c.5532C>T (p.Asn1844=) rs369656698
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.5566C>G (p.His1856Asp) rs777664567
NM_001378454.1(ALMS1):c.5570C>G (p.Ser1857Cys) rs375354717
NM_001378454.1(ALMS1):c.557A>C (p.Asp186Ala) rs375830111
NM_001378454.1(ALMS1):c.55G>A (p.Glu19Lys) rs939208094
NM_001378454.1(ALMS1):c.5608G>A (p.Glu1870Lys) rs372714431
NM_001378454.1(ALMS1):c.5622del (p.Ala1875fs) rs1057517445
NM_001378454.1(ALMS1):c.5627dup (p.Gly1877fs) rs1553404109
NM_001378454.1(ALMS1):c.5758G>A (p.Val1920Ile) rs373489525
NM_001378454.1(ALMS1):c.5761T>G (p.Phe1921Val) rs545488125
NM_001378454.1(ALMS1):c.5777A>G (p.Gln1926Arg) rs376161519
NM_001378454.1(ALMS1):c.57G>A (p.Glu19=) rs866503570
NM_001378454.1(ALMS1):c.5822A>G (p.Tyr1941Cys) rs374676136
NM_001378454.1(ALMS1):c.5828G>T (p.Arg1943Leu) rs146669152
NM_001378454.1(ALMS1):c.5842A>G (p.Ser1948Gly) rs367728446
NM_001378454.1(ALMS1):c.5848A>G (p.Ile1950Val) rs140062566
NM_001378454.1(ALMS1):c.5849T>C (p.Ile1950Thr) rs773754661
NM_001378454.1(ALMS1):c.5860del (p.Glu1954fs) rs1553404150
NM_001378454.1(ALMS1):c.5870A>G (p.Asp1957Gly) rs1464393698
NM_001378454.1(ALMS1):c.5886del (p.Glu1963fs) rs1553404156
NM_001378454.1(ALMS1):c.5904_5912del (p.Pro1969_Ser1971del) rs1060500042
NM_001378454.1(ALMS1):c.591A>G (p.Gln197=) rs373438786
NM_001378454.1(ALMS1):c.5978_5979del (p.Lys1993fs) rs1553404180
NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg) rs150331660
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu) rs376989302
NM_001378454.1(ALMS1):c.6059C>T (p.Ser2020Leu) rs372116790
NM_001378454.1(ALMS1):c.605_610del (p.Val202_Lys203del) rs1553399981
NM_001378454.1(ALMS1):c.6068A>G (p.Glu2023Gly) rs376120513
NM_001378454.1(ALMS1):c.6071A>G (p.Lys2024Arg) rs369339997
NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu) rs191286546
NM_001378454.1(ALMS1):c.6092T>C (p.Ile2031Thr) rs374673974
NM_001378454.1(ALMS1):c.60_61insCAG (p.Glu21_Glu22insGln) rs1553396137
NM_001378454.1(ALMS1):c.6112A>T (p.Thr2038Ser) rs369011755
NM_001378454.1(ALMS1):c.6143A>G (p.Tyr2048Cys) rs201162418
NM_001378454.1(ALMS1):c.6215T>C (p.Leu2072Pro) rs1382952433
NM_001378454.1(ALMS1):c.6216A>G (p.Leu2072=) rs754288227
NM_001378454.1(ALMS1):c.63_64insAAG (p.Glu22_Glu23insLys) rs905301935
NM_001378454.1(ALMS1):c.6433C>A (p.Arg2145=) rs770558150
NM_001378454.1(ALMS1):c.646+10G>A rs1553399998
NM_001378454.1(ALMS1):c.646+4A>T rs1270489328
NM_001378454.1(ALMS1):c.646+5T>C rs1235104737
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.647-5T>C rs913268523
NM_001378454.1(ALMS1):c.6483_6486del (p.Thr2162fs) rs1553404252
NM_001378454.1(ALMS1):c.6495T>C (p.Ala2165=) rs189124891
NM_001378454.1(ALMS1):c.6496C>G (p.Leu2166Val) rs1200119538
NM_001378454.1(ALMS1):c.64_65insTGG (p.Glu22_Glu23insVal) rs1553396144
NM_001378454.1(ALMS1):c.6538G>A (p.Gly2180Arg) rs145953016
NM_001378454.1(ALMS1):c.6543A>G (p.Leu2181=) rs1553404267
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs) rs1034630858
NM_001378454.1(ALMS1):c.6570_6573dup (p.Gly2192fs) rs1553404277
NM_001378454.1(ALMS1):c.6587del (p.Lys2196fs) rs1553404283
NM_001378454.1(ALMS1):c.6604G>A (p.Val2202Ile) rs371544118
NM_001378454.1(ALMS1):c.6615A>T (p.Leu2205=) rs375011895
NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr) rs367656336
NM_001378454.1(ALMS1):c.6690del (p.Val2231fs) rs1553404305
NM_001378454.1(ALMS1):c.66_67insAAGGAG (p.Glu23_Glu24insLysGlu) rs1553396142
NM_001378454.1(ALMS1):c.6706C>A (p.Pro2236Thr) rs200724860
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs) rs1553404310
NM_001378454.1(ALMS1):c.6797T>A (p.Leu2266Ter) rs761071372
NM_001378454.1(ALMS1):c.6799A>G (p.Met2267Val) rs142904692
NM_001378454.1(ALMS1):c.6816G>A (p.Met2272Ile) rs765233946
NM_001378454.1(ALMS1):c.6837del (p.Pro2280fs) rs1553404337
NM_001378454.1(ALMS1):c.6853C>T (p.Arg2285Cys) rs375458331
NM_001378454.1(ALMS1):c.6854G>T (p.Arg2285Leu) rs6546839
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs) rs1553404358
NM_001378454.1(ALMS1):c.6925dup (p.Thr2309fs) rs1553404368
NM_001378454.1(ALMS1):c.6926C>T (p.Thr2309Met) rs147001219
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs) rs1553404377
NM_001378454.1(ALMS1):c.695dup (p.Leu232fs) rs1553400437
NM_001378454.1(ALMS1):c.6966C>T (p.Phe2322=) rs370287018
NM_001378454.1(ALMS1):c.69_70insAAG (p.Glu24_Glu25insLys) rs1006328829
NM_001378454.1(ALMS1):c.7004A>T (p.Asp2335Val) rs771422712
NM_001378454.1(ALMS1):c.7013C>A (p.Thr2338Lys) rs373004988
NM_001378454.1(ALMS1):c.7017G>A (p.Gln2339=) rs190319211
NM_001378454.1(ALMS1):c.7031G>C (p.Cys2344Ser) rs148306148
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter) rs989080548
NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val) rs370830919
NM_001378454.1(ALMS1):c.7172A>T (p.Glu2391Val) rs368310126
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=) rs373972884
NM_001378454.1(ALMS1):c.7193C>A (p.Thr2398Asn) rs200470452
NM_001378454.1(ALMS1):c.7226C>G (p.Thr2409Ser) rs866357733
NM_001378454.1(ALMS1):c.7226del (p.Thr2409fs) rs1553404423
NM_001378454.1(ALMS1):c.7237dup (p.Ser2413fs) rs1553404426
NM_001378454.1(ALMS1):c.7277G>C (p.Cys2426Ser) rs35649068
NM_001378454.1(ALMS1):c.7287C>G (p.Asp2429Glu) rs994637726
NM_001378454.1(ALMS1):c.72G>A (p.Glu24=) rs1483677896
NM_001378454.1(ALMS1):c.72_73insAAG (p.Glu25_Glu26insLys) rs1553396155
NM_001378454.1(ALMS1):c.7330_7331delinsATA (p.Leu2444fs) rs1553404457
NM_001378454.1(ALMS1):c.7359G>T (p.Lys2453Asn) rs1400122858
NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer) rs1225343345
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs) rs1370417967
NM_001378454.1(ALMS1):c.7388_7392dup (p.Val2465fs) rs1553404473
NM_001378454.1(ALMS1):c.7402A>G (p.Ser2468Gly) rs1007457582
NM_001378454.1(ALMS1):c.7404T>A (p.Ser2468Arg) rs749127545
NM_001378454.1(ALMS1):c.7454del (p.Asn2485fs) rs1217507627
NM_001378454.1(ALMS1):c.74_75insCGA (p.Glu25_Glu26insAsp) rs1491479006
NM_001378454.1(ALMS1):c.74_75insGAGGAA (p.Glu26_Glu27insArgLys) rs1574423810
NM_001378454.1(ALMS1):c.74_75insGGC (p.Glu26_Glu27insAla) rs1553396120
NM_001378454.1(ALMS1):c.7539_7540insAAT (p.Ala2514_Trp2515insAsn) rs757932553
NM_001378454.1(ALMS1):c.753_754insA (p.Ala252fs) rs748892226
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.7541-15A>G rs1169514054
NM_001378454.1(ALMS1):c.7541-17G>C rs758134188
NM_001378454.1(ALMS1):c.7541-19G>A rs1553404624
NM_001378454.1(ALMS1):c.7541-4C>G rs1380143996
NM_001378454.1(ALMS1):c.7541-6C>T rs1408073039
NM_001378454.1(ALMS1):c.7541-8C>A rs1553404629
NM_001378454.1(ALMS1):c.7559A>G (p.Asn2520Ser) rs377085127
NM_001378454.1(ALMS1):c.7577G>A (p.Gly2526Glu) rs201654702
NM_001378454.1(ALMS1):c.757C>T (p.Pro253Ser) rs368153355
NM_001378454.1(ALMS1):c.75_77dup (p.Glu28dup) rs1553396161
NM_001378454.1(ALMS1):c.7639T>G (p.Leu2547Val) rs200155429
NM_001378454.1(ALMS1):c.764+14T>C rs1553400457
NM_001378454.1(ALMS1):c.764+19A>G rs1035974697
NM_001378454.1(ALMS1):c.764+3A>G rs772334395
NM_001378454.1(ALMS1):c.764+4G>A rs1167438151
NM_001378454.1(ALMS1):c.764+9A>T rs551013858
NM_001378454.1(ALMS1):c.765-12A>G rs200209691
NM_001378454.1(ALMS1):c.765-13TA[2] rs1553400662
NM_001378454.1(ALMS1):c.765-16A>G rs765256601
NM_001378454.1(ALMS1):c.765-6T>A rs755762723
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+3A>G rs1553404673
NM_001378454.1(ALMS1):c.7674+5A>G rs756532322
NM_001378454.1(ALMS1):c.7674+9G>T rs1046548369
NM_001378454.1(ALMS1):c.7675-19G>A rs1399037677
NM_001378454.1(ALMS1):c.7675-2A>G rs748477695
NM_001378454.1(ALMS1):c.7675-7C>T rs1553409573
NM_001378454.1(ALMS1):c.7675-8T>A rs1553409572
NM_001378454.1(ALMS1):c.7697T>C (p.Met2566Thr) rs373385088
NM_001378454.1(ALMS1):c.769del (p.Ile257fs) rs1553400675
NM_001378454.1(ALMS1):c.7700G>T (p.Gly2567Val) rs199831059
NM_001378454.1(ALMS1):c.7743C>T (p.Ser2581=) rs370740871
NM_001378454.1(ALMS1):c.7761C>T (p.Phe2587=) rs1553409598
NM_001378454.1(ALMS1):c.777T>G (p.Asp259Glu) rs190445250
NM_001378454.1(ALMS1):c.780G>A (p.Lys260=) rs1553400683
NM_001378454.1(ALMS1):c.7812C>G (p.Phe2604Leu) rs201739856
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs) rs1553409617
NM_001378454.1(ALMS1):c.7878T>A (p.His2626Gln) rs940478567
NM_001378454.1(ALMS1):c.7892C>T (p.Ala2631Val) rs1027248513
NM_001378454.1(ALMS1):c.7900G>T (p.Asp2634Tyr) rs201426207
NM_001378454.1(ALMS1):c.7912T>A (p.Ser2638Thr) rs548882067
NM_001378454.1(ALMS1):c.7983A>T (p.Glu2661Asp) rs1213279792
NM_001378454.1(ALMS1):c.7998_8013dup (p.Phe2672fs) rs1553409656
NM_001378454.1(ALMS1):c.8031C>A (p.Asp2677Glu) rs754078506
NM_001378454.1(ALMS1):c.803_805del (p.Ser268_Arg269delinsTer) rs758952057
NM_001378454.1(ALMS1):c.8074A>G (p.Lys2692Glu) rs201025991
NM_001378454.1(ALMS1):c.8075AAG[1] (p.Glu2693del) rs1553409676
NM_001378454.1(ALMS1):c.8122A>C (p.Met2708Leu) rs371904071
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.8168C>A (p.Ser2723Tyr) rs368409205
NM_001378454.1(ALMS1):c.8195T>C (p.Val2732Ala) rs200859630
NM_001378454.1(ALMS1):c.8197A>C (p.Lys2733Gln) rs1553409698
NM_001378454.1(ALMS1):c.8240T>G (p.Val2747Gly) rs188857186
NM_001378454.1(ALMS1):c.8257C>A (p.His2753Asn) rs200718841
NM_001378454.1(ALMS1):c.8315CAT[1] (p.Ser2773del) rs770459045
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer) rs1553409710
NM_001378454.1(ALMS1):c.8358_8363del (p.Ile2787_Leu2788del) rs1553409711
NM_001378454.1(ALMS1):c.8391dup (p.Leu2798fs) rs1553409715
NM_001378454.1(ALMS1):c.8560C>G (p.Leu2854Val) rs765176591
NM_001378454.1(ALMS1):c.8577G>A (p.Ser2859=) rs199850691
NM_001378454.1(ALMS1):c.8630CTT[1] (p.Ser2878del) rs1553409754
NM_001378454.1(ALMS1):c.8648AAC[1] (p.Gln2884del) rs777935409
NM_001378454.1(ALMS1):c.8654G>A (p.Arg2885Gln) rs185447739
NM_001378454.1(ALMS1):c.8711A>C (p.His2904Pro) rs370508584
NM_001378454.1(ALMS1):c.8718dup (p.Ser2907fs) rs1553409764
NM_001378454.1(ALMS1):c.872G>C (p.Ser291Thr) rs568470985
NM_001378454.1(ALMS1):c.8756CTT[1] (p.Ser2920del) rs1553409775
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs) rs1553409774
NM_001378454.1(ALMS1):c.8790dup (p.Glu2931Ter) rs1553409778
NM_001378454.1(ALMS1):c.8864C>G (p.Ser2955Cys) rs1248081824
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.8928A>G (p.Val2976=) rs373374154
NM_001378454.1(ALMS1):c.8974G>T (p.Asp2992Tyr) rs937731506
NM_001378454.1(ALMS1):c.8992AAT[1] (p.Asn2999del) rs1553409817
NM_001378454.1(ALMS1):c.9018C>T (p.His3006=) rs376757358
NM_001378454.1(ALMS1):c.902T>C (p.Ile301Thr) rs374259576
NM_001378454.1(ALMS1):c.90_92del (p.Ala35del) rs973057702
NM_001378454.1(ALMS1):c.9109CCT[1] (p.Pro3038del) rs759799299
NM_001378454.1(ALMS1):c.9112C>T (p.Pro3038Ser) rs370622410
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs) rs1553409851
NM_001378454.1(ALMS1):c.9170_9190dup (p.Ser3057_Thr3063dup) rs1455775922
NM_001378454.1(ALMS1):c.9173A>G (p.Lys3058Arg) rs149329669
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup) rs746896173
NM_001378454.1(ALMS1):c.925_926insT (p.Gln309fs) rs1553400709
NM_001378454.1(ALMS1):c.9263A>G (p.His3088Arg) rs376083621
NM_001378454.1(ALMS1):c.9281C>T (p.Ser3094Leu) rs368970124
NM_001378454.1(ALMS1):c.9321A>G (p.Val3107=) rs371108940
NM_001378454.1(ALMS1):c.9359A>C (p.Lys3120Thr) rs375038066
NM_001378454.1(ALMS1):c.9360A>G (p.Lys3120=) rs368408369
NM_001378454.1(ALMS1):c.9386A>C (p.Gln3129Pro) rs372015288
NM_001378454.1(ALMS1):c.9392C>T (p.Ser3131Phe) rs144588413
NM_001378454.1(ALMS1):c.9496G>A (p.Glu3166Lys) rs201208516
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+13G>C rs369860432
NM_001378454.1(ALMS1):c.9539+1G>T rs1553409901
NM_001378454.1(ALMS1):c.9539+20C>T rs759559244
NM_001378454.1(ALMS1):c.9539G>A (p.Arg3180Gln) rs772197358
NM_001378454.1(ALMS1):c.953G>A (p.Gly318Glu) rs372886271
NM_001378454.1(ALMS1):c.9540-15C>A rs780375594
NM_001378454.1(ALMS1):c.9540-16del rs765235024
NM_001378454.1(ALMS1):c.9540-7dup rs750386293
NM_001378454.1(ALMS1):c.9547_9549del (p.Glu3183del) rs1553412739
NM_001378454.1(ALMS1):c.955A>G (p.Asn319Asp) rs376892136
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr) rs369682692
NM_001378454.1(ALMS1):c.9610A>G (p.Ile3204Val) rs377600448
NM_001378454.1(ALMS1):c.9613ACA[1] (p.Thr3206del) rs762803723
NM_001378454.1(ALMS1):c.9669A>C (p.Glu3223Asp) rs376206840
NM_001378454.1(ALMS1):c.9673C>T (p.Arg3225Cys) rs200215551
NM_001378454.1(ALMS1):c.9674G>A (p.Arg3225His) rs765685958
NM_001378454.1(ALMS1):c.9753A>G (p.Gln3251=) rs1553412793
NM_001378454.1(ALMS1):c.9754_9755insCTC (p.Gln3252_Val3253insPro) rs766127195
NM_001378454.1(ALMS1):c.9760_9761dup (p.Phe3255fs) rs1553412797
NM_001378454.1(ALMS1):c.9781+11G>A rs970258030
NM_001378454.1(ALMS1):c.9781+19A>C rs895296631
NM_001378454.1(ALMS1):c.9781+5G>C rs1553412803
NM_001378454.1(ALMS1):c.9782-11dup rs1553414055
NM_001378454.1(ALMS1):c.9782-13T>G rs530508947
NM_001378454.1(ALMS1):c.9782-18T>C rs995894081
NM_001378454.1(ALMS1):c.9782-6C>T rs1414733616
NM_001378454.1(ALMS1):c.9782-8C>T rs1553414061
NM_001378454.1(ALMS1):c.9786G>A (p.Gln3262=) rs757139660
NM_001378454.1(ALMS1):c.9803A>G (p.Tyr3268Cys) rs375515965
NM_001378454.1(ALMS1):c.9815_9828del (p.Gly3272fs) rs1553414071
NM_001378454.1(ALMS1):c.9828G>A (p.Met3276Ile) rs551840069
NM_001378454.1(ALMS1):c.9830A>G (p.Tyr3277Cys) rs200826787
NM_001378454.1(ALMS1):c.9866C>T (p.Pro3289Leu) rs369660958
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.9897dup (p.Ser3300fs) rs754702823
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+5T>G rs1553414096
NM_001378454.1(ALMS1):c.9907+7T>G rs375870610
NM_001378454.1(ALMS1):c.9908-13C>G rs373325114
NM_001378454.1(ALMS1):c.9908-13C>T rs373325114
NM_001378454.1(ALMS1):c.9908-15C>G rs1389556610
NM_001378454.1(ALMS1):c.9908-6C>G rs1553416191
NM_001378454.1(ALMS1):c.9932A>C (p.Asp3311Ala) rs1553416202
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla) rs746896173
NM_015120.4(ALMS1):c.11385del (p.Phe3795fs) rs768759374
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del) rs55889738
NM_015120.4(ALMS1):c.6436C>T (p.Arg2146Ter) rs770558150

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.