ClinVar Miner

List of variants in gene ALMS1 reported as pathogenic for Alstrom syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 643
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter) rs940576720 0.00005
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter) rs772624348 0.00004
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312 0.00004
NM_001378454.1(ALMS1):c.11413C>T (p.Arg3805Ter) rs376091780 0.00004
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter) rs751804613 0.00004
NM_001378454.1(ALMS1):c.11669-2A>G rs952110960 0.00003
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter) rs758195453 0.00003
NM_001378454.1(ALMS1):c.9386dup (p.Pro3130fs) rs1361923069 0.00003
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228 0.00002
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter) rs150825781 0.00002
NM_001378454.1(ALMS1):c.8044G>T (p.Glu2682Ter) rs779187578 0.00002
NM_001378454.1(ALMS1):c.10357A>T (p.Lys3453Ter) rs1674604760 0.00001
NM_001378454.1(ALMS1):c.10385-2A>G rs1255779642 0.00001
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter) rs1275113273 0.00001
NM_001378454.1(ALMS1):c.10750C>T (p.Gln3584Ter) rs192823093 0.00001
NM_001378454.1(ALMS1):c.10816C>T (p.Arg3606Trp) rs1250097723 0.00001
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter) rs1192396248 0.00001
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter) rs1473611414 0.00001
NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter) rs1674967197 0.00001
NM_001378454.1(ALMS1):c.11002C>T (p.Gln3668Ter) rs773750204 0.00001
NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs) rs398122992 0.00001
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs) rs760264695 0.00001
NM_001378454.1(ALMS1):c.11667del (p.Gly3890fs) rs1553421496 0.00001
NM_001378454.1(ALMS1):c.11668+1G>A rs1181992959 0.00001
NM_001378454.1(ALMS1):c.11669-1G>A rs750737346 0.00001
NM_001378454.1(ALMS1):c.11669-1G>C rs750737346 0.00001
NM_001378454.1(ALMS1):c.1480A>T (p.Lys494Ter) rs2103771218 0.00001
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter) rs755760721 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001378454.1(ALMS1):c.2041C>T (p.Gln681Ter) rs190439406 0.00001
NM_001378454.1(ALMS1):c.2087C>A (p.Ser696Ter) rs1490504758 0.00001
NM_001378454.1(ALMS1):c.2231C>G (p.Ser744Ter) rs1242023655 0.00001
NM_001378454.1(ALMS1):c.2292C>G (p.Tyr764Ter) rs774724720 0.00001
NM_001378454.1(ALMS1):c.2464C>T (p.Gln822Ter) rs568037602 0.00001
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter) rs539612316 0.00001
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter) rs750326619 0.00001
NM_001378454.1(ALMS1):c.3016dup (p.Arg1006fs) rs878854998 0.00001
NM_001378454.1(ALMS1):c.3325C>T (p.Gln1109Ter) rs1671890891 0.00001
NM_001378454.1(ALMS1):c.3576C>G (p.Tyr1192Ter) rs1671899045 0.00001
NM_001378454.1(ALMS1):c.360_363dup (p.Tyr122fs) rs753301358 0.00001
NM_001378454.1(ALMS1):c.3649A>T (p.Lys1217Ter) rs779928593 0.00001
NM_001378454.1(ALMS1):c.367C>T (p.Gln123Ter) rs1392057115 0.00001
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs) rs1296683633 0.00001
NM_001378454.1(ALMS1):c.4180C>T (p.Gln1394Ter) rs969786171 0.00001
NM_001378454.1(ALMS1):c.4210G>T (p.Glu1404Ter) rs2103781864 0.00001
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter) rs778728424 0.00001
NM_001378454.1(ALMS1):c.4544del (p.Ala1515fs) rs745461983 0.00001
NM_001378454.1(ALMS1):c.4571C>G (p.Ser1524Ter) rs1558649531 0.00001
NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter) rs1572935708 0.00001
NM_001378454.1(ALMS1):c.478C>T (p.Gln160Ter) rs1671237172 0.00001
NM_001378454.1(ALMS1):c.4888C>T (p.Gln1630Ter) rs974309886 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_001378454.1(ALMS1):c.5277T>G (p.Tyr1759Ter) rs1671946886 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.5903C>G (p.Ser1968Ter) rs1490127694 0.00001
NM_001378454.1(ALMS1):c.6165del (p.Asn2055fs) rs1281013806 0.00001
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter) rs771994237 0.00001
NM_001378454.1(ALMS1):c.61G>T (p.Glu21Ter) rs1438410766 0.00001
NM_001378454.1(ALMS1):c.6479del (p.His2160fs) rs1200296507 0.00001
NM_001378454.1(ALMS1):c.6566dup (p.Tyr2189Ter) rs1671983691 0.00001
NM_001378454.1(ALMS1):c.6826C>T (p.Arg2276Ter) rs1238145717 0.00001
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter) rs761713440 0.00001
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter) rs989080548 0.00001
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter) rs1198051503 0.00001
NM_001378454.1(ALMS1):c.7433C>G (p.Ser2478Ter) rs1303829798 0.00001
NM_001378454.1(ALMS1):c.753_754insA (p.Ala252fs) rs748892226 0.00001
NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter) rs193919340 0.00001
NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs) rs1457913004 0.00001
NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter) rs776563011 0.00001
NM_001378454.1(ALMS1):c.9607C>T (p.Gln3203Ter) rs956247442 0.00001
NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs) rs754702823 0.00001
NC_000002.11:g.(?_73610049)_(73680031_?)del
NC_000002.11:g.(?_73612987)_(73786279_?)del
NC_000002.11:g.(?_73612987)_(73836749_?)del
NC_000002.11:g.(?_73612997)_(73650122_?)del
NC_000002.11:g.(?_73612997)_(73747163_?)del
NC_000002.11:g.(?_73635740)_(73786279_?)del
NC_000002.11:g.(?_73646231)_(73659439_?)del
NC_000002.11:g.(?_73651548)_(73659429_?)del
NC_000002.11:g.(?_73659316)_(73659429_?)del
NC_000002.11:g.(?_73675070)_(73682442_?)del
NC_000002.11:g.(?_73716741)_(73800571_?)del
NC_000002.11:g.(?_73716751)_(73718635_?)del
NC_000002.11:g.(?_73716751)_(73747153_?)del
NC_000002.11:g.(?_73716751)_(73762086_?)del
NC_000002.11:g.(?_73716751)_(73786279_?)del
NC_000002.11:g.(?_73746892)_(73747153_?)del
NC_000002.11:g.(?_73746892)_(73762086_?)del
NC_000002.11:g.(?_73746892)_(73777574_?)del
NC_000002.11:g.(?_73746892)_(73800561_?)del
NC_000002.11:g.(?_73777384)_(73800561_?)del
NC_000002.11:g.(?_73799379)_(73800561_?)del
NC_000002.11:g.(?_73827785)_(73828583_?)del
NC_000002.12:g.(?_73489624)_(73603314_?)del
NC_000002.12:g.73559058delinsGA rs1060500034
NM_001378454.1(ALMS1):c.10063C>T (p.Gln3355Ter) rs2466385968
NM_001378454.1(ALMS1):c.1008_1009del (p.Cys336_Asp337delinsTer) rs1205704532
NM_001378454.1(ALMS1):c.10120_10121del (p.Ser3374fs) rs771301027
NM_001378454.1(ALMS1):c.10120dup (p.Ser3374fs)
NM_001378454.1(ALMS1):c.10125del (p.Asp3375fs) rs2104057987
NM_001378454.1(ALMS1):c.10131dup (p.Gln3378fs) rs1553416867
NM_001378454.1(ALMS1):c.10132C>T (p.Gln3378Ter) rs2466402650
NM_001378454.1(ALMS1):c.10146dup (p.Ser3383fs) rs1553416872
NM_001378454.1(ALMS1):c.10247del (p.Ala3416fs) rs2104063719
NM_001378454.1(ALMS1):c.10332del (p.Glu3446fs) rs2466408583
NM_001378454.1(ALMS1):c.10355dup (p.Asn3452fs) rs2466408692
NM_001378454.1(ALMS1):c.10421del (p.Arg3474fs) rs2104103586
NM_001378454.1(ALMS1):c.10427del (p.Val3476fs) rs1674946144
NM_001378454.1(ALMS1):c.10507_10510del (p.Lys3503fs) rs2466443292
NM_001378454.1(ALMS1):c.10530_10531insGGAATGTCTTTCCAAGATT (p.Trp3511fs) rs2104104085
NM_001378454.1(ALMS1):c.10532G>A (p.Trp3511Ter)
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter) rs375019820
NM_001378454.1(ALMS1):c.10558_10561del (p.Asp3520fs) rs2104104189
NM_001378454.1(ALMS1):c.10566_10567del (p.His3522fs) rs1163532771
NM_001378454.1(ALMS1):c.10576_10577del (p.Met3526fs)
NM_001378454.1(ALMS1):c.10591_10594del (p.Pro3531fs) rs2466443694
NM_001378454.1(ALMS1):c.10619_10622del (p.Thr3540fs) rs2104104427
NM_001378454.1(ALMS1):c.10652dup (p.Asn3551fs) rs1674958525
NM_001378454.1(ALMS1):c.10668del (p.Asn3556fs) rs2104104628
NM_001378454.1(ALMS1):c.10671_10674del (p.Lys3557_Glu3558insTer) rs1372103295
NM_001378454.1(ALMS1):c.10676del (p.Val3559fs) rs1573030204
NM_001378454.1(ALMS1):c.10698_10702del (p.Val3567fs) rs2466444235
NM_001378454.1(ALMS1):c.10765_10766insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAGGTCACCCCAG (p.Pro3588_Glu3589insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrIleLeuAlaAsnThrValLysProArgXaaXaaXaaXaaLysLysLysLysLysLysLysLysValThrPro) rs2104105041
NM_001378454.1(ALMS1):c.10766del (p.Glu3589fs) rs2104105065
NM_001378454.1(ALMS1):c.10782_10792del (p.Thr3595fs) rs2466444538
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.10825C>T (p.Gln3609Ter) rs79893082
NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs) rs755616266
NM_001378454.1(ALMS1):c.10831C>T (p.Gln3611Ter) rs2104105305
NM_001378454.1(ALMS1):c.10833del (p.Gln3611fs) rs2466444822
NM_001378454.1(ALMS1):c.10834C>T (p.Gln3612Ter) rs756345976
NM_001378454.1(ALMS1):c.10838_10839del (p.Arg3613fs) rs2466444847
NM_001378454.1(ALMS1):c.10860del (p.Glu3622fs) rs2466444966
NM_001378454.1(ALMS1):c.10876del (p.Val3626fs) rs2466445112
NM_001378454.1(ALMS1):c.10909C>T (p.Gln3637Ter) rs754108525
NM_001378454.1(ALMS1):c.1092del (p.Asp365fs) rs1572914641
NM_001378454.1(ALMS1):c.10942G>T (p.Glu3648Ter) rs397514576
NM_001378454.1(ALMS1):c.10951_10952del (p.Thr3650_His3651insTer)
NM_001378454.1(ALMS1):c.10972C>T (p.Arg3658Ter) rs780438592
NM_001378454.1(ALMS1):c.10988G>A (p.Trp3663Ter) rs1674968936
NM_001378454.1(ALMS1):c.10989G>A (p.Trp3663Ter) rs193919339
NM_001378454.1(ALMS1):c.10999C>T (p.Gln3667Ter) rs2104106148
NM_001378454.1(ALMS1):c.11037dup (p.Lys3680Ter) rs2104106303
NM_001378454.1(ALMS1):c.11041del (p.Ser3681fs) rs779182344
NM_001378454.1(ALMS1):c.11054_11055del (p.Ser3685fs) rs2466445680
NM_001378454.1(ALMS1):c.11076del (p.Ser3695fs) rs1170410040
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs) rs1412574975
NM_001378454.1(ALMS1):c.11083dup (p.Ser3695fs) rs1412574975
NM_001378454.1(ALMS1):c.11104C>T (p.Arg3702Ter) rs747747269
NM_001378454.1(ALMS1):c.11110_11128del (p.Gly3704fs) rs2104106546
NM_001378454.1(ALMS1):c.11137C>T (p.Gln3713Ter) rs1674974639
NM_001378454.1(ALMS1):c.11166_11167del (p.Ser3722fs) rs1674975219
NM_001378454.1(ALMS1):c.11170C>T (p.Gln3724Ter) rs1385395822
NM_001378454.1(ALMS1):c.11173_11176del (p.Pro3725fs)
NM_001378454.1(ALMS1):c.11198del (p.Thr3733fs) rs2466446440
NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter) rs367877017
NM_001378454.1(ALMS1):c.11293_11296dup (p.Leu3766fs)
NM_001378454.1(ALMS1):c.11304_11307del (p.Thr3769fs) rs2466446965
NM_001378454.1(ALMS1):c.11307del (p.Asp3770fs)
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs) rs780252175
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) rs747272625
NM_001378454.1(ALMS1):c.1132_1135dup (p.Asn379fs) rs2466047361
NM_001378454.1(ALMS1):c.11374C>T (p.Gln3792Ter) rs763850684
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs) rs768759374
NM_001378454.1(ALMS1):c.1139_1140dup (p.Ala381Ter) rs2466047383
NM_001378454.1(ALMS1):c.11400C>A (p.Cys3800Ter) rs1215015585
NM_001378454.1(ALMS1):c.11411del (p.Arg3804fs) rs1263250868
NM_001378454.1(ALMS1):c.11414_11418del (p.Arg3805fs) rs2104108070
NM_001378454.1(ALMS1):c.11419A>T (p.Lys3807Ter)
NM_001378454.1(ALMS1):c.11420_11424del (p.Lys3807fs) rs1553418609
NM_001378454.1(ALMS1):c.11449_11450del (p.Arg3817fs) rs776599992
NM_001378454.1(ALMS1):c.11499_11502dup (p.His3835fs) rs2466448042
NM_001378454.1(ALMS1):c.11576_11577del (p.Ser3859fs) rs1675623302
NM_001378454.1(ALMS1):c.11577dup (p.Ile3860fs) rs2104188795
NM_001378454.1(ALMS1):c.1159del (p.His387fs)
NM_001378454.1(ALMS1):c.115del (p.Asp39fs) rs2465970805
NM_001378454.1(ALMS1):c.11600dup (p.Leu3868fs) rs2104188943
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.11644_11645del (p.Met3882fs) rs1573052379
NM_001378454.1(ALMS1):c.11651_11654del (p.Asn3884fs) rs2466516478
NM_001378454.1(ALMS1):c.11668+1G>T rs1181992959
NM_001378454.1(ALMS1):c.11682del (p.Ile3894fs) rs2466519743
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs) rs1553421626
NM_001378454.1(ALMS1):c.11707C>T (p.Arg3903Ter) rs1290800821
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs) rs932538480
NM_001378454.1(ALMS1):c.11723del (p.Thr3908fs) rs1573053412
NM_001378454.1(ALMS1):c.11725_11726del (p.Phe3909fs) rs2466520056
NM_001378454.1(ALMS1):c.11735del (p.Pro3912fs) rs1558711346
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs) rs1247974278
NM_001378454.1(ALMS1):c.11784G>A (p.Trp3928Ter) rs1318520999
NM_001378454.1(ALMS1):c.11785_11792delinsCCGGAAT (p.Ser3929fs) rs1675665426
NM_001378454.1(ALMS1):c.11809dup (p.Met3937fs) rs757722767
NM_001378454.1(ALMS1):c.11846_11849del (p.Lys3949fs) rs765718672
NM_001378454.1(ALMS1):c.11849del (p.Lys3950fs) rs765718672
NM_001378454.1(ALMS1):c.11853del (p.Asn3951fs) rs2466520729
NM_001378454.1(ALMS1):c.11871_11872del (p.Gly3958fs) rs2104194220
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.1201del (p.Glu401fs) rs1671350045
NM_001378454.1(ALMS1):c.1208C>G (p.Ser403Ter) rs1248541208
NM_001378454.1(ALMS1):c.12313C>T (p.Gln4105Ter) rs2466529587
NM_001378454.1(ALMS1):c.12323del (p.Lys4108fs) rs1675739925
NM_001378454.1(ALMS1):c.12340del (p.Glu4114fs) rs2104202909
NM_001378454.1(ALMS1):c.12373C>T (p.Gln4125Ter) rs1174712970
NM_001378454.1(ALMS1):c.12391A>T (p.Lys4131Ter) rs2466540816
NM_001378454.1(ALMS1):c.12397A>T (p.Arg4133Ter) rs2466540845
NM_001378454.1(ALMS1):c.12409A>T (p.Lys4137Ter) rs2466540891
NM_001378454.1(ALMS1):c.1291G>T (p.Glu431Ter) rs2103720460
NM_001378454.1(ALMS1):c.1335_1338del (p.Arg445fs) rs2103720605
NM_001378454.1(ALMS1):c.1348G>T (p.Glu450Ter) rs2103734325
NM_001378454.1(ALMS1):c.1349_1350del (p.Glu450fs) rs2466062942
NM_001378454.1(ALMS1):c.134del (p.Glu45fs)
NM_001378454.1(ALMS1):c.1352C>A (p.Ser451Ter) rs540547127
NM_001378454.1(ALMS1):c.1359T>A (p.Tyr453Ter) rs2103734375
NM_001378454.1(ALMS1):c.1386dup (p.Met463fs) rs2466063041
NM_001378454.1(ALMS1):c.1403_1404del (p.Val468fs) rs1558642193
NM_001378454.1(ALMS1):c.1413del (p.Pro472fs) rs2103734574
NM_001378454.1(ALMS1):c.1447G>T (p.Gly483Ter) rs2103771067
NM_001378454.1(ALMS1):c.1466_1469del (p.Thr489fs) rs2103771168
NM_001378454.1(ALMS1):c.149del (p.Ala50fs) rs2104058704
NM_001378454.1(ALMS1):c.1518del (p.Ile506fs) rs2466091306
NM_001378454.1(ALMS1):c.1549del (p.Leu517fs) rs2466091383
NM_001378454.1(ALMS1):c.1579G>T (p.Glu527Ter) rs759021934
NM_001378454.1(ALMS1):c.1594C>T (p.Gln532Ter) rs2466091646
NM_001378454.1(ALMS1):c.1601dup (p.Thr534_Asp535insTer) rs1572931360
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.1625T>G (p.Leu542Ter) rs1347176614
NM_001378454.1(ALMS1):c.1673del (p.Pro558fs) rs2466091915
NM_001378454.1(ALMS1):c.168dup (p.Asp57fs) rs1269948810
NM_001378454.1(ALMS1):c.1727C>G (p.Ser576Ter) rs756389027
NM_001378454.1(ALMS1):c.1756C>T (p.Gln586Ter) rs2103772104
NM_001378454.1(ALMS1):c.1757del (p.Gln586fs)
NM_001378454.1(ALMS1):c.1785dup (p.Glu596Ter) rs2466092302
NM_001378454.1(ALMS1):c.1786del (p.Glu596fs) rs2466092307
NM_001378454.1(ALMS1):c.1791_1798dup (p.Lys600delinsArgLeuTer) rs398122991
NM_001378454.1(ALMS1):c.1816G>T (p.Gly606Ter) rs1553403321
NM_001378454.1(ALMS1):c.1844C>G (p.Ser615Ter) rs2103772444
NM_001378454.1(ALMS1):c.1850dup (p.Thr618fs) rs2466092491
NM_001378454.1(ALMS1):c.1876_1879del (p.Glu626fs) rs2466092629
NM_001378454.1(ALMS1):c.1897C>T (p.Gln633Ter) rs398122995
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter) rs780843883
NM_001378454.1(ALMS1):c.1910del (p.Pro637fs) rs2103772743
NM_001378454.1(ALMS1):c.1941del (p.Val648fs) rs1671852270
NM_001378454.1(ALMS1):c.1946C>G (p.Ser649Ter) rs2466092881
NM_001378454.1(ALMS1):c.1969C>T (p.Gln657Ter) rs1371488235
NM_001378454.1(ALMS1):c.196G>T (p.Glu66Ter) rs1169223296
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter) rs115444326
NM_001378454.1(ALMS1):c.2064_2065dup (p.Thr689fs) rs2103773428
NM_001378454.1(ALMS1):c.2070dup (p.Gln691fs) rs1671856137
NM_001378454.1(ALMS1):c.2071C>T (p.Gln691Ter) rs752875933
NM_001378454.1(ALMS1):c.20del (p.Pro7fs) rs1340135231
NM_001378454.1(ALMS1):c.2110C>T (p.Gln704Ter) rs1162425274
NM_001378454.1(ALMS1):c.211G>T (p.Glu71Ter) rs757131983
NM_001378454.1(ALMS1):c.2138_2139del (p.Ser713fs) rs387906313
NM_001378454.1(ALMS1):c.214G>T (p.Glu72Ter) rs2465971353
NM_001378454.1(ALMS1):c.2158_2161del (p.Glu720fs) rs1558647785
NM_001378454.1(ALMS1):c.2164_2165insT (p.Pro722fs) rs1671859372
NM_001378454.1(ALMS1):c.2176del (p.Tyr726fs) rs771459937
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs) rs771459937
NM_001378454.1(ALMS1):c.2179C>T (p.Gln727Ter) rs1671859674
NM_001378454.1(ALMS1):c.2182C>T (p.Gln728Ter) rs1671859807
NM_001378454.1(ALMS1):c.2203C>T (p.Gln735Ter) rs757152182
NM_001378454.1(ALMS1):c.2221dup (p.Thr741fs) rs769291842
NM_001378454.1(ALMS1):c.2225_2226dup (p.Val743fs) rs2103774323
NM_001378454.1(ALMS1):c.2239_3050dup (p.Trp1017delinsCysLeuAspGlnLeuThrArgArgLeuArgTyrGlnGlnTyrSerLeuValLeuThrHisLysGluLysSerLeuValPheCysThrHisArgThrTer) rs2466094001
NM_001378454.1(ALMS1):c.2270del (p.Pro757fs) rs1572932377
NM_001378454.1(ALMS1):c.2273_2274del (p.Ala758fs) rs1671863469
NM_001378454.1(ALMS1):c.2302_2303del (p.Glu768fs)
NM_001378454.1(ALMS1):c.2314_2315del (p.Ile772fs) rs2103774725
NM_001378454.1(ALMS1):c.236G>A (p.Trp79Ter) rs2465971490
NM_001378454.1(ALMS1):c.2370_2371del (p.Ala792fs) rs1271517550
NM_001378454.1(ALMS1):c.237G>A (p.Trp79Ter) rs2465971495
NM_001378454.1(ALMS1):c.2434_2435dup (p.Arg814fs) rs2466094592
NM_001378454.1(ALMS1):c.2445_2446del (p.Lys816fs) rs765764128
NM_001378454.1(ALMS1):c.2446A>T (p.Lys816Ter) rs2466094627
NM_001378454.1(ALMS1):c.2467C>T (p.Gln823Ter) rs201853697
NM_001378454.1(ALMS1):c.2480_2486del (p.Asp827fs)
NM_001378454.1(ALMS1):c.2483del (p.Ser828fs) rs1671869827
NM_001378454.1(ALMS1):c.2494G>T (p.Glu832Ter) rs373979607
NM_001378454.1(ALMS1):c.2513C>A (p.Ser838Ter) rs2103775505
NM_001378454.1(ALMS1):c.2519_2525del (p.Val840fs) rs2466094878
NM_001378454.1(ALMS1):c.2536G>T (p.Gly846Ter) rs201154998
NM_001378454.1(ALMS1):c.2617C>T (p.Gln873Ter) rs1572932845
NM_001378454.1(ALMS1):c.2652dup (p.Leu885fs) rs2466095260
NM_001378454.1(ALMS1):c.2658dup (p.Val887fs) rs2466095271
NM_001378454.1(ALMS1):c.2663C>G (p.Ser888Ter) rs764559444
NM_001378454.1(ALMS1):c.2687del (p.Gln896fs) rs2103776149
NM_001378454.1(ALMS1):c.2697del (p.Ile900fs)
NM_001378454.1(ALMS1):c.2705C>G (p.Ser902Ter) rs2466095459
NM_001378454.1(ALMS1):c.2734_2737del (p.Glu912fs) rs1671876151
NM_001378454.1(ALMS1):c.2743dup (p.Ile915fs) rs1671876471
NM_001378454.1(ALMS1):c.2752del (p.Ser918fs) rs1230351650
NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs) rs1230351650
NM_001378454.1(ALMS1):c.2755C>T (p.Gln919Ter) rs1322100078
NM_001378454.1(ALMS1):c.2785G>T (p.Glu929Ter) rs1572933082
NM_001378454.1(ALMS1):c.2797A>T (p.Lys933Ter) rs2466095962
NM_001378454.1(ALMS1):c.281dup (p.Gln95fs) rs2104060044
NM_001378454.1(ALMS1):c.2827C>T (p.Gln943Ter) rs2466096040
NM_001378454.1(ALMS1):c.2882del (p.Ser961fs) rs2103776873
NM_001378454.1(ALMS1):c.2896C>T (p.Gln966Ter) rs761177629
NM_001378454.1(ALMS1):c.2897del (p.Gln966fs) rs1671880064
NM_001378454.1(ALMS1):c.2912_2915del (p.Asp971fs) rs1671880172
NM_001378454.1(ALMS1):c.2935_2936del (p.Leu979fs) rs2103777026
NM_001378454.1(ALMS1):c.2941dup (p.Met981fs) rs2466096352
NM_001378454.1(ALMS1):c.2955_2956insTGAC (p.Gly986Ter) rs1553403585
NM_001378454.1(ALMS1):c.2963del (p.Thr988fs) rs2466096436
NM_001378454.1(ALMS1):c.2964_2967del (p.Asp989fs)
NM_001378454.1(ALMS1):c.298G>T (p.Glu100Ter) rs1254495717
NM_001378454.1(ALMS1):c.2994_2997del (p.Pro999fs) rs766323360
NM_001378454.1(ALMS1):c.3011C>G (p.Ser1004Ter) rs1359874667
NM_001378454.1(ALMS1):c.3012del (p.His1005fs) rs2103777336
NM_001378454.1(ALMS1):c.3019_3022del (p.Glu1007fs) rs2466096633
NM_001378454.1(ALMS1):c.3039_3042del (p.Gln1014fs) rs1671883188
NM_001378454.1(ALMS1):c.3050G>A (p.Trp1017Ter) rs2103777457
NM_001378454.1(ALMS1):c.3051G>A (p.Trp1017Ter) rs1671883598
NM_001378454.1(ALMS1):c.3059_3062del (p.Ser1020fs) rs2103777482
NM_001378454.1(ALMS1):c.3112C>T (p.Gln1038Ter) rs2103777652
NM_001378454.1(ALMS1):c.3121_3125del (p.Glu1041fs) rs1671885188
NM_001378454.1(ALMS1):c.3136C>T (p.Gln1046Ter) rs1671885850
NM_001378454.1(ALMS1):c.3150C>A (p.Tyr1050Ter) rs1671886193
NM_001378454.1(ALMS1):c.31G>T (p.Glu11Ter) rs2465969801
NM_001378454.1(ALMS1):c.3230C>G (p.Ser1077Ter) rs2466097334
NM_001378454.1(ALMS1):c.3248_3255del (p.Ala1083fs) rs755944454
NM_001378454.1(ALMS1):c.3253C>T (p.Gln1085Ter) rs769842211
NM_001378454.1(ALMS1):c.3297_3298del (p.Lys1102fs) rs1553403653
NM_001378454.1(ALMS1):c.3298del (p.Arg1100fs) rs1553403653
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs) rs1553403656
NM_001378454.1(ALMS1):c.3340_3341del (p.His1115fs) rs2466097825
NM_001378454.1(ALMS1):c.3375_3376del (p.Ala1126fs) rs2103778657
NM_001378454.1(ALMS1):c.3422C>G (p.Ser1141Ter) rs780622565
NM_001378454.1(ALMS1):c.3436C>T (p.Gln1146Ter) rs2103778961
NM_001378454.1(ALMS1):c.3466C>T (p.Gln1156Ter) rs975308906
NM_001378454.1(ALMS1):c.350G>A (p.Trp117Ter) rs1671017057
NM_001378454.1(ALMS1):c.351G>A (p.Trp117Ter)
NM_001378454.1(ALMS1):c.3522dup (p.Thr1175fs) rs1671897788
NM_001378454.1(ALMS1):c.3523dup (p.Thr1175fs) rs2103779248
NM_001378454.1(ALMS1):c.3557_3564del (p.Arg1186fs) rs2103779399
NM_001378454.1(ALMS1):c.3567_3586del (p.Thr1190fs) rs2466098663
NM_001378454.1(ALMS1):c.3572del (p.Phe1191fs) rs1558648759
NM_001378454.1(ALMS1):c.3582_3583del (p.Lys1197fs)
NM_001378454.1(ALMS1):c.358_361del (p.Ile120fs) rs2466016534
NM_001378454.1(ALMS1):c.359_360del (p.Ile120fs) rs1553398842
NM_001378454.1(ALMS1):c.35_38del (p.Leu12fs)
NM_001378454.1(ALMS1):c.3718_3721del (p.Ser1240fs) rs868776324
NM_001378454.1(ALMS1):c.3729_3730del (p.Lys1244fs) rs2466099194
NM_001378454.1(ALMS1):c.3751C>T (p.Gln1251Ter) rs778724795
NM_001378454.1(ALMS1):c.3781G>T (p.Glu1261Ter) rs1085307054
NM_001378454.1(ALMS1):c.3823del (p.Thr1275fs)
NM_001378454.1(ALMS1):c.3853del (p.Ser1285fs) rs2466099623
NM_001378454.1(ALMS1):c.3860C>A (p.Ser1287Ter)
NM_001378454.1(ALMS1):c.3862_3863insTAT (p.Gln1288delinsLeuTer) rs2466099658
NM_001378454.1(ALMS1):c.3867T>G (p.Tyr1289Ter) rs369314182
NM_001378454.1(ALMS1):c.3872_3875dup (p.Pro1293fs) rs2466099701
NM_001378454.1(ALMS1):c.3891C>A (p.Tyr1297Ter) rs2103780557
NM_001378454.1(ALMS1):c.3895C>T (p.Gln1299Ter) rs2466099788
NM_001378454.1(ALMS1):c.3899C>A (p.Ser1300Ter) rs769219669
NM_001378454.1(ALMS1):c.3903_4072del (p.Leu1301fs) rs2103780610
NM_001378454.1(ALMS1):c.3918_3921del (p.Thr1307fs) rs2466099885
NM_001378454.1(ALMS1):c.3954_3955del (p.Pro1319fs) rs2103780806
NM_001378454.1(ALMS1):c.4002C>G (p.Tyr1334Ter) rs2103780942
NM_001378454.1(ALMS1):c.4004C>G (p.Ser1335Ter) rs906758153
NM_001378454.1(ALMS1):c.4010_4011del (p.Thr1337fs) rs2103780952
NM_001378454.1(ALMS1):c.4035_4047del (p.Gln1345fs) rs753835568
NM_001378454.1(ALMS1):c.4036C>T (p.Gln1346Ter) rs775149898
NM_001378454.1(ALMS1):c.4039del (p.Val1347fs) rs2103781095
NM_001378454.1(ALMS1):c.4138_4141del (p.Ser1380fs) rs2466100644
NM_001378454.1(ALMS1):c.4144_4147del (p.Ser1382fs) rs2103781518
NM_001378454.1(ALMS1):c.4179_4180inv (p.Gln1394Ter)
NM_001378454.1(ALMS1):c.4221dup (p.Val1408fs) rs2103781901
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs) rs1553403851
NM_001378454.1(ALMS1):c.4271T>A (p.Leu1424Ter) rs2103782122
NM_001378454.1(ALMS1):c.4293_4296del (p.His1431fs) rs398122993
NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter) rs1208636696
NM_001378454.1(ALMS1):c.4321C>T (p.Gln1441Ter) rs2466101288
NM_001378454.1(ALMS1):c.4335_4336del (p.His1445fs) rs2466101333
NM_001378454.1(ALMS1):c.4360G>T (p.Glu1454Ter) rs768816557
NM_001378454.1(ALMS1):c.4390C>T (p.Gln1464Ter) rs904289501
NM_001378454.1(ALMS1):c.4411_4412del (p.Val1471fs) rs2103782701
NM_001378454.1(ALMS1):c.4578_4579del (p.His1526fs)
NM_001378454.1(ALMS1):c.45_46insTAG (p.Glu16Ter)
NM_001378454.1(ALMS1):c.4645dup (p.Arg1549fs) rs1553403917
NM_001378454.1(ALMS1):c.465G>A (p.Trp155Ter)
NM_001378454.1(ALMS1):c.4662_4663delinsAT (p.Gly1555Ter) rs2466102298
NM_001378454.1(ALMS1):c.46G>T (p.Glu16Ter) rs1174023229
NM_001378454.1(ALMS1):c.4711_4712dup (p.Ser1572fs) rs2466102505
NM_001378454.1(ALMS1):c.4715C>G (p.Ser1572Ter) rs2103783763
NM_001378454.1(ALMS1):c.4721del (p.Gly1574fs) rs2103783797
NM_001378454.1(ALMS1):c.4820del (p.Lys1607fs) rs758098717
NM_001378454.1(ALMS1):c.4820dup (p.Thr1608fs) rs758098717
NM_001378454.1(ALMS1):c.4914_4917del (p.Asn1638fs) rs779366889
NM_001378454.1(ALMS1):c.4916_4919del (p.Lys1639fs) rs1439452693
NM_001378454.1(ALMS1):c.4934C>A (p.Ser1645Ter) rs774594040
NM_001378454.1(ALMS1):c.496C>T (p.Gln166Ter) rs2103701341
NM_001378454.1(ALMS1):c.4G>T (p.Glu2Ter) rs1670504473
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs) rs1572936092
NM_001378454.1(ALMS1):c.5021del (p.Phe1674fs) rs777273518
NM_001378454.1(ALMS1):c.5025C>G (p.Tyr1675Ter) rs2103784887
NM_001378454.1(ALMS1):c.5051_5057del (p.His1683_Leu1684insTer) rs1671941012
NM_001378454.1(ALMS1):c.5132T>G (p.Leu1711Ter) rs768999961
NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs) rs748709116
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs) rs1553404020
NM_001378454.1(ALMS1):c.5197C>T (p.Gln1733Ter) rs750136202
NM_001378454.1(ALMS1):c.5198_5199del (p.Gln1733fs) rs2466104220
NM_001378454.1(ALMS1):c.5215del (p.Ser1739fs) rs1195572987
NM_001378454.1(ALMS1):c.5260dup (p.Val1754fs) rs2466104360
NM_001378454.1(ALMS1):c.5274del (p.Tyr1759fs) rs2103785778
NM_001378454.1(ALMS1):c.5280del (p.His1761fs) rs2103785835
NM_001378454.1(ALMS1):c.5307C>A (p.Tyr1769Ter) rs758678450
NM_001378454.1(ALMS1):c.5307C>G (p.Tyr1769Ter) rs758678450
NM_001378454.1(ALMS1):c.5318T>A (p.Leu1773Ter) rs2103786025
NM_001378454.1(ALMS1):c.5350A>T (p.Lys1784Ter) rs2466104633
NM_001378454.1(ALMS1):c.538_541dup (p.Asp181fs) rs2466036341
NM_001378454.1(ALMS1):c.5396C>G (p.Ser1799Ter) rs2103786356
NM_001378454.1(ALMS1):c.539_542dup (p.Asp181fs) rs2466036345
NM_001378454.1(ALMS1):c.5422_5425del (p.His1808fs) rs1671951264
NM_001378454.1(ALMS1):c.5430_5431del (p.Lys1811fs) rs2466105042
NM_001378454.1(ALMS1):c.5462del (p.Pro1821fs) rs770264966
NM_001378454.1(ALMS1):c.547G>T (p.Glu183Ter) rs1671239143
NM_001378454.1(ALMS1):c.5501del (p.Pro1834fs) rs2466105501
NM_001378454.1(ALMS1):c.554_555del (p.Thr185fs) rs2466036415
NM_001378454.1(ALMS1):c.5571dup (p.Val1858fs) rs773650701
NM_001378454.1(ALMS1):c.5583T>A (p.Tyr1861Ter) rs745677541
NM_001378454.1(ALMS1):c.5587C>T (p.Gln1863Ter) rs769440001
NM_001378454.1(ALMS1):c.5606_5612del (p.Thr1869fs) rs2466105917
NM_001378454.1(ALMS1):c.560dup (p.Ser189fs) rs1439541639
NM_001378454.1(ALMS1):c.5620A>T (p.Lys1874Ter) rs886038614
NM_001378454.1(ALMS1):c.5627dup (p.Gly1877fs) rs1553404109
NM_001378454.1(ALMS1):c.564del (p.Ser189fs) rs1671239582
NM_001378454.1(ALMS1):c.5655_6063del (p.Lys1885_Thr1886insTer) rs2103787249
NM_001378454.1(ALMS1):c.5673_5731del (p.Ser1892fs)
NM_001378454.1(ALMS1):c.5698_5701del (p.Glu1900fs) rs1558650438
NM_001378454.1(ALMS1):c.5706del (p.Ser1903fs) rs2466106228
NM_001378454.1(ALMS1):c.5719C>T (p.Gln1907Ter)
NM_001378454.1(ALMS1):c.571G>T (p.Glu191Ter) rs765553310
NM_001378454.1(ALMS1):c.5722C>T (p.Gln1908Ter) rs2466106273
NM_001378454.1(ALMS1):c.5732del (p.Pro1911fs) rs763048583
NM_001378454.1(ALMS1):c.5746G>T (p.Glu1916Ter) rs2466106355
NM_001378454.1(ALMS1):c.5750_5753del (p.Ala1917fs) rs2103787540
NM_001378454.1(ALMS1):c.5787del (p.Lys1930fs) rs2466106443
NM_001378454.1(ALMS1):c.57_58insTAGGAG (p.Glu20Ter) rs1574423697
NM_001378454.1(ALMS1):c.5821dup (p.Tyr1941fs) rs2103787808
NM_001378454.1(ALMS1):c.5825C>G (p.Ser1942Ter) rs755927504
NM_001378454.1(ALMS1):c.5826dup (p.Arg1943fs) rs2466106564
NM_001378454.1(ALMS1):c.5848_5849del (p.Ile1950fs)
NM_001378454.1(ALMS1):c.5853_5854del (p.Gln1952fs) rs2103787916
NM_001378454.1(ALMS1):c.5854C>T (p.Gln1952Ter) rs2466106666
NM_001378454.1(ALMS1):c.586del (p.Thr196fs) rs2103701730
NM_001378454.1(ALMS1):c.5887G>T (p.Glu1963Ter) rs45484791
NM_001378454.1(ALMS1):c.5896A>T (p.Lys1966Ter) rs2466106782
NM_001378454.1(ALMS1):c.589C>T (p.Gln197Ter) rs1671240457
NM_001378454.1(ALMS1):c.5902dup (p.Ser1968fs) rs2466106791
NM_001378454.1(ALMS1):c.5915del (p.Ile1972fs) rs2466106833
NM_001378454.1(ALMS1):c.5923del (p.Glu1975fs) rs398122994
NM_001378454.1(ALMS1):c.5926C>T (p.Gln1976Ter) rs533606326
NM_001378454.1(ALMS1):c.5951dup (p.Ser1985fs) rs2466107252
NM_001378454.1(ALMS1):c.595G>T (p.Glu199Ter) rs2466036616
NM_001378454.1(ALMS1):c.5966C>A (p.Ser1989Ter) rs777080769
NM_001378454.1(ALMS1):c.5972C>G (p.Ser1991Ter)
NM_001378454.1(ALMS1):c.5978_5979del (p.Lys1993fs) rs1553404180
NM_001378454.1(ALMS1):c.6061C>T (p.Gln2021Ter) rs2466107635
NM_001378454.1(ALMS1):c.6094G>T (p.Gly2032Ter) rs1671971419
NM_001378454.1(ALMS1):c.6121del (p.Gln2041fs) rs1671971721
NM_001378454.1(ALMS1):c.6163_6164dup (p.Asn2055fs) rs2103789120
NM_001378454.1(ALMS1):c.6166_6167dup (p.Leu2057fs) rs759603306
NM_001378454.1(ALMS1):c.6204_6208del (p.Ser2068fs) rs1671974033
NM_001378454.1(ALMS1):c.622_623del (p.Asp208fs) rs1670037662
NM_001378454.1(ALMS1):c.6263del (p.Pro2088fs) rs2466108557
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter) rs28730854
NM_001378454.1(ALMS1):c.6308_6318del (p.Ile2103fs) rs1348039836
NM_001378454.1(ALMS1):c.6319C>T (p.Gln2107Ter) rs2466108740
NM_001378454.1(ALMS1):c.6343dup (p.Thr2115fs) rs2466108824
NM_001378454.1(ALMS1):c.6372del (p.Pro2125fs) rs1553404220
NM_001378454.1(ALMS1):c.638dup (p.Leu214fs) rs2103701996
NM_001378454.1(ALMS1):c.6391_6397del (p.Lys2131fs)
NM_001378454.1(ALMS1):c.6408_6409insCCTA (p.Ala2137fs) rs1553404233
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter) rs770558150
NM_001378454.1(ALMS1):c.6467T>A (p.Leu2156Ter) rs2103790206
NM_001378454.1(ALMS1):c.6475dup (p.Arg2159fs)
NM_001378454.1(ALMS1):c.6483_6486del (p.Thr2162fs) rs1553404252
NM_001378454.1(ALMS1):c.6528dup (p.Gln2177fs) rs2103790479
NM_001378454.1(ALMS1):c.6538G>T (p.Gly2180Ter) rs145953016
NM_001378454.1(ALMS1):c.6544C>T (p.Gln2182Ter)
NM_001378454.1(ALMS1):c.6560del (p.Gly2187fs) rs2466109511
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs) rs1034630858
NM_001378454.1(ALMS1):c.6587del (p.Lys2196fs) rs1553404283
NM_001378454.1(ALMS1):c.6668_6669insTTTTTTTTTTTTTTTTNNNNNNNNNNGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCCAAATAATGTGCTTTT (p.Leu2223delinsPhePhePhePhePhePheXaaXaaXaaXaaArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgAlaLysTer) rs2103790992
NM_001378454.1(ALMS1):c.6683_6684del (p.Asp2228fs) rs2103791069
NM_001378454.1(ALMS1):c.6688dup (p.Arg2230fs) rs2103791083
NM_001378454.1(ALMS1):c.6690_6691del (p.Arg2230fs) rs1412045635
NM_001378454.1(ALMS1):c.6703A>T (p.Lys2235Ter) rs2466109981
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs) rs1553404310
NM_001378454.1(ALMS1):c.6797T>A (p.Leu2266Ter) rs761071372
NM_001378454.1(ALMS1):c.6813dup (p.Met2272fs) rs1671989236
NM_001378454.1(ALMS1):c.6837del (p.Pro2280fs) rs1553404337
NM_001378454.1(ALMS1):c.6839del (p.Pro2280fs) rs2466110362
NM_001378454.1(ALMS1):c.6847dup (p.Leu2283fs) rs1558651349
NM_001378454.1(ALMS1):c.6886C>T (p.Gln2296Ter) rs747355678
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs) rs1553404358
NM_001378454.1(ALMS1):c.6918del (p.Ser2307fs) rs2103791934
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs) rs1553404377
NM_001378454.1(ALMS1):c.6993C>A (p.Cys2331Ter) rs2466110939
NM_001378454.1(ALMS1):c.7001dup (p.Asp2335fs) rs2466110974
NM_001378454.1(ALMS1):c.7067C>A (p.Ser2356Ter) rs757852651
NM_001378454.1(ALMS1):c.7087del (p.Leu2363fs) rs1553404395
NM_001378454.1(ALMS1):c.7090C>T (p.Gln2364Ter)
NM_001378454.1(ALMS1):c.7129dup (p.Thr2377fs) rs1179374287
NM_001378454.1(ALMS1):c.7132C>T (p.Leu2378Phe) rs768751472
NM_001378454.1(ALMS1):c.7226del (p.Thr2409fs) rs1553404423
NM_001378454.1(ALMS1):c.7234A>T (p.Lys2412Ter) rs2466111790
NM_001378454.1(ALMS1):c.7237dup (p.Ser2413fs) rs1553404426
NM_001378454.1(ALMS1):c.7244C>A (p.Ser2415Ter) rs1060500039
NM_001378454.1(ALMS1):c.7244C>G (p.Ser2415Ter) rs1060500039
NM_001378454.1(ALMS1):c.7301_7302del (p.Glu2434fs) rs1246023978
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.7387G>T (p.Glu2463Ter)
NM_001378454.1(ALMS1):c.73G>T (p.Glu25Ter) rs1285425883
NM_001378454.1(ALMS1):c.7405G>T (p.Glu2469Ter) rs373586405
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter) rs2103794046
NM_001378454.1(ALMS1):c.74_75insGGAGTA (p.Glu26_Glu27insTerGlu) rs1574423810
NM_001378454.1(ALMS1):c.7531C>T (p.Arg2511Ter) rs1315351235
NM_001378454.1(ALMS1):c.7589C>G (p.Ser2530Ter) rs1572939837
NM_001378454.1(ALMS1):c.7624del (p.Glu2542fs) rs2466115753
NM_001378454.1(ALMS1):c.7672A>T (p.Lys2558Ter) rs1200012970
NM_001378454.1(ALMS1):c.7674+1G>A rs1417025395
NM_001378454.1(ALMS1):c.7674+1G>T rs1417025395
NM_001378454.1(ALMS1):c.7679del (p.Leu2560fs)
NM_001378454.1(ALMS1):c.7705A>T (p.Lys2569Ter)
NM_001378454.1(ALMS1):c.7737_7738insTTTTTTTTTTTTTTTTTTNNNNNNNNNNACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCGATTTTCCTGCCTCAGCCTCCGTCACATTATTATT (p.Ile2579_Glu2580insPhePhePhePhePhePheXaaXaaXaaXaaGlyValLeuLeuCysCysLeuGlyGlyValGlnTrpCysAsnLeuGlySerLeuGlnProLeuProProArgLeuLysArgPheSerCysLeuSerLeuArgHisIleIleIle) rs2103889249
NM_001378454.1(ALMS1):c.7751del (p.Lys2584fs) rs2466212358
NM_001378454.1(ALMS1):c.7769dup (p.Thr2591fs) rs2466212433
NM_001378454.1(ALMS1):c.7786C>T (p.Gln2596Ter) rs1672934629
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs) rs1553409617
NM_001378454.1(ALMS1):c.784G>T (p.Glu262Ter) rs1572914269
NM_001378454.1(ALMS1):c.7864dup (p.Cys2622fs) rs2103889832
NM_001378454.1(ALMS1):c.7866C>A (p.Cys2622Ter) rs772164111
NM_001378454.1(ALMS1):c.790dup (p.Thr264fs) rs1307785790
NM_001378454.1(ALMS1):c.7948del (p.Ser2650fs) rs2466213478
NM_001378454.1(ALMS1):c.8005C>T (p.Arg2669Ter) rs549857076
NM_001378454.1(ALMS1):c.803_805del (p.Ser268_Arg269delinsTer) rs758952057
NM_001378454.1(ALMS1):c.8042C>G (p.Ser2681Ter) rs2466213874
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter) rs1426009756
NM_001378454.1(ALMS1):c.8072del (p.Pro2691fs) rs2466214029
NM_001378454.1(ALMS1):c.8096dup (p.Ser2700fs)
NM_001378454.1(ALMS1):c.8109del (p.Ser2704fs) rs2103890652
NM_001378454.1(ALMS1):c.8129del (p.Lys2710fs) rs2466214267
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.8153C>A (p.Ser2718Ter) rs2466214414
NM_001378454.1(ALMS1):c.8174_8184del (p.Cys2725fs) rs2103890894
NM_001378454.1(ALMS1):c.8221C>T (p.Gln2741Ter) rs2466214814
NM_001378454.1(ALMS1):c.823G>T (p.Glu275Ter) rs2466045930
NM_001378454.1(ALMS1):c.8245dup (p.Val2749fs) rs748621056
NM_001378454.1(ALMS1):c.8250_8254del (p.Asn2751fs) rs2103891188
NM_001378454.1(ALMS1):c.8272C>T (p.Gln2758Ter)
NM_001378454.1(ALMS1):c.8295dup (p.Gln2766fs) rs2466215227
NM_001378454.1(ALMS1):c.8339C>G (p.Ser2780Ter)
NM_001378454.1(ALMS1):c.833_834del (p.Phe278fs) rs1671340542
NM_001378454.1(ALMS1):c.8343del (p.Asp2782fs) rs2466215388
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer) rs1553409710
NM_001378454.1(ALMS1):c.8358dup (p.Ile2787fs) rs2466215433
NM_001378454.1(ALMS1):c.8372del (p.Gly2791fs)
NM_001378454.1(ALMS1):c.8380C>T (p.Gln2794Ter) rs193919338
NM_001378454.1(ALMS1):c.8391dup (p.Leu2798fs) rs1553409715
NM_001378454.1(ALMS1):c.8393T>G (p.Leu2798Ter)
NM_001378454.1(ALMS1):c.8440_8443del (p.Arg2814fs) rs2466215789
NM_001378454.1(ALMS1):c.8444C>G (p.Ser2815Ter) rs2103891827
NM_001378454.1(ALMS1):c.847G>T (p.Glu283Ter) rs780066739
NM_001378454.1(ALMS1):c.8563G>T (p.Gly2855Ter) rs1672957185
NM_001378454.1(ALMS1):c.857C>G (p.Ser286Ter) rs1270472063
NM_001378454.1(ALMS1):c.8598del (p.Glu2867fs) rs2103892422
NM_001378454.1(ALMS1):c.8630_8631insG (p.Ser2878fs) rs2103892558
NM_001378454.1(ALMS1):c.8630_8633del (p.Pro2877fs)
NM_001378454.1(ALMS1):c.8637C>A (p.Cys2879Ter) rs2466216835
NM_001378454.1(ALMS1):c.8668dup (p.Gln2890fs) rs2466216987
NM_001378454.1(ALMS1):c.8674_8678del (p.Lys2892fs) rs2466216995
NM_001378454.1(ALMS1):c.870del (p.Ser290fs) rs2103714765
NM_001378454.1(ALMS1):c.8718dup (p.Ser2907fs) rs1553409764
NM_001378454.1(ALMS1):c.8739T>G (p.Tyr2913Ter) rs1185658160
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs) rs1553409774
NM_001378454.1(ALMS1):c.8763C>A (p.Cys2921Ter) rs765908556
NM_001378454.1(ALMS1):c.8769dup (p.Leu2924fs) rs2103893216
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter) rs376244626
NM_001378454.1(ALMS1):c.8790_8791del (p.Phe2930fs) rs1672964092
NM_001378454.1(ALMS1):c.8790dup (p.Glu2931Ter) rs1553409778
NM_001378454.1(ALMS1):c.8811T>G (p.Tyr2937Ter) rs541559170
NM_001378454.1(ALMS1):c.8856_8860del (p.Gln2953fs) rs2103893595
NM_001378454.1(ALMS1):c.8858_8859insAGCTATAGAATCCTCA (p.Asp2954fs) rs2103893636
NM_001378454.1(ALMS1):c.8929_8938del (p.Val2976_Asp2977insTer)
NM_001378454.1(ALMS1):c.8935C>T (p.Gln2979Ter) rs2466218463
NM_001378454.1(ALMS1):c.8965C>T (p.Gln2989Ter) rs2103894102
NM_001378454.1(ALMS1):c.8998C>T (p.Gln3000Ter) rs200930613
NM_001378454.1(ALMS1):c.9050del (p.Asn3017fs)
NM_001378454.1(ALMS1):c.9068C>G (p.Ser3023Ter) rs768037558
NM_001378454.1(ALMS1):c.9083_9084del (p.Cys3028fs) rs2466219130
NM_001378454.1(ALMS1):c.9089T>A (p.Leu3030Ter)
NM_001378454.1(ALMS1):c.9113del (p.Pro3038fs) rs1425609364
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs) rs1553409851
NM_001378454.1(ALMS1):c.9190_9191insA (p.Leu3064fs) rs1672976991
NM_001378454.1(ALMS1):c.9191T>G (p.Leu3064Ter) rs1434010689
NM_001378454.1(ALMS1):c.9245del (p.Glu3082fs) rs2466220020
NM_001378454.1(ALMS1):c.9251del (p.Asn3084fs) rs1572970628
NM_001378454.1(ALMS1):c.9268_9269dup (p.Ser3091fs) rs2103895390
NM_001378454.1(ALMS1):c.9325C>T (p.Gln3109Ter) rs1558667813
NM_001378454.1(ALMS1):c.9340_9341del (p.Leu3114fs) rs2103895650
NM_001378454.1(ALMS1):c.9352G>T (p.Gly3118Ter) rs2103895712
NM_001378454.1(ALMS1):c.9385C>T (p.Gln3129Ter) rs1314034889
NM_001378454.1(ALMS1):c.9418C>T (p.Gln3140Ter)
NM_001378454.1(ALMS1):c.9419_9420del (p.Gln3140fs) rs1558667882
NM_001378454.1(ALMS1):c.9430dup (p.Thr3144fs) rs878855003
NM_001378454.1(ALMS1):c.9442C>T (p.Gln3148Ter) rs917667192
NM_001378454.1(ALMS1):c.9469C>T (p.Gln3157Ter)
NM_001378454.1(ALMS1):c.9474dup (p.Gln3159fs) rs2466220962
NM_001378454.1(ALMS1):c.9538C>T (p.Arg3180Ter) rs563393715
NM_001378454.1(ALMS1):c.9540-2A>G rs2466302978
NM_001378454.1(ALMS1):c.9546del (p.Glu3183fs) rs2103961819
NM_001378454.1(ALMS1):c.9549del (p.Lys3184fs) rs2466303019
NM_001378454.1(ALMS1):c.9563dup (p.Leu3189fs)
NM_001378454.1(ALMS1):c.9588_9621del (p.Ser3197fs)
NM_001378454.1(ALMS1):c.9619_9620del (p.Glu3207fs) rs2466303417
NM_001378454.1(ALMS1):c.9701del (p.Asn3234fs) rs1273296127
NM_001378454.1(ALMS1):c.974_981del (p.Ile324_Ser325insTer) rs1671343808
NM_001378454.1(ALMS1):c.9751C>T (p.Gln3251Ter) rs2466304011
NM_001378454.1(ALMS1):c.9760_9764dup (p.Phe3255fs) rs2466304058
NM_001378454.1(ALMS1):c.9804T>A (p.Tyr3268Ter) rs368412850
NM_001378454.1(ALMS1):c.9805A>T (p.Lys3269Ter) rs1216373008
NM_001378454.1(ALMS1):c.9829_9832dup (p.Tyr3278fs) rs1573000963
NM_001378454.1(ALMS1):c.9834T>A (p.Tyr3278Ter) rs1573000972
NM_001378454.1(ALMS1):c.9841C>T (p.Gln3281Ter) rs1331043174
NM_001378454.1(ALMS1):c.9905C>G (p.Ser3302Ter) rs1673996095
NM_001378454.1(ALMS1):c.9919_9923del (p.Ala3307fs) rs1480809832
NM_001378454.1(ALMS1):c.9957_9958dup (p.Arg3320fs) rs1674402990
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter) rs754690894
NM_001378454.1(ALMS1):c.9981_9987dup (p.Ile3330delinsCysTer) rs1310777713
NM_001378454.1(ALMS1):c.9996_9997del (p.His3332fs) rs2466385686
NM_015120.4(ALMS1):c.11551del rs1675622361
NM_015120.4(ALMS1):c.[3902C>A];[6436C>T]
NM_015120.4:c.(?_9911)_(11550_?)del
NM_015120.4:c.11054_11055ins[N[333];11041_11054]
Single allele

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.