ClinVar Miner

List of variants reported as likely benign for Alstrom syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2056
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524 0.00310
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp) rs201074268 0.00204
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794 0.00163
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_001378454.1(ALMS1):c.8274A>G (p.Gln2758=) rs181226362 0.00143
NM_001378454.1(ALMS1):c.3732G>A (p.Lys1244=) rs140670994 0.00138
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=) rs45445398 0.00114
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser) rs189032342 0.00097
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=) rs200459890 0.00080
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser) rs199874928 0.00078
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263 0.00071
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799 0.00066
NM_001378454.1(ALMS1):c.3305A>C (p.Lys1102Thr) rs185586839 0.00066
NM_001378454.1(ALMS1):c.3942A>C (p.Ser1314=) rs186449817 0.00065
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly) rs201390755 0.00065
NM_001378454.1(ALMS1):c.11223G>A (p.Glu3741=) rs28730859 0.00061
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809 0.00057
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys) rs201252375 0.00053
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=) rs189914793 0.00037
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe) rs192499639 0.00036
NM_001378454.1(ALMS1):c.7820C>G (p.Ala2607Gly) rs140223281 0.00034
NM_001378454.1(ALMS1):c.9861A>G (p.Pro3287=) rs114687298 0.00034
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly) rs184779459 0.00032
NM_001378454.1(ALMS1):c.1161T>C (p.His387=) rs191091347 0.00030
NM_001378454.1(ALMS1):c.9617C>T (p.Thr3206Ile) rs201624771 0.00029
NM_001378454.1(ALMS1):c.9777A>C (p.Thr3259=) rs183325464 0.00029
NM_001378454.1(ALMS1):c.9781+19del rs751238172 0.00029
NM_001378454.1(ALMS1):c.861C>T (p.Asp287=) rs377281121 0.00028
NM_001378454.1(ALMS1):c.10086A>G (p.Ser3362=) rs747033366 0.00027
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=) rs371329585 0.00023
NM_001378454.1(ALMS1):c.57_58del (p.Glu20fs) rs767882166 0.00022
NM_001378454.1(ALMS1):c.11772T>C (p.Asp3924=) rs201924342 0.00021
NM_001378454.1(ALMS1):c.12362+17_12362+18del rs768207589 0.00021
NM_001378454.1(ALMS1):c.3867T>C (p.Tyr1289=) rs369314182 0.00021
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=) rs201478438 0.00021
NM_001378454.1(ALMS1):c.822T>C (p.Ser274=) rs145009331 0.00021
NM_001378454.1(ALMS1):c.11610A>G (p.Ser3870=) rs188172095 0.00019
NM_001378454.1(ALMS1):c.8779C>A (p.Arg2927=) rs376244626 0.00019
NM_001378454.1(ALMS1):c.9741A>G (p.Ser3247=) rs370844317 0.00017
NM_001378454.1(ALMS1):c.11328C>T (p.His3776=) rs45596541 0.00016
NM_001378454.1(ALMS1):c.11379T>C (p.Ala3793=) rs377090880 0.00016
NM_001378454.1(ALMS1):c.4149A>G (p.Gln1383=) rs370508895 0.00016
NM_001378454.1(ALMS1):c.471T>C (p.Cys157=) rs367648094 0.00016
NM_001378454.1(ALMS1):c.3945G>A (p.Ala1315=) rs201474138 0.00015
NM_001378454.1(ALMS1):c.6145T>A (p.Ser2049Thr) rs17848882 0.00015
NM_001378454.1(ALMS1):c.9633G>A (p.Lys3211=) rs373013570 0.00014
NM_001378454.1(ALMS1):c.10218C>T (p.Ser3406=) rs754938453 0.00013
NM_001378454.1(ALMS1):c.11868T>C (p.His3956=) rs370489767 0.00013
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His) rs200441305 0.00013
NM_001378454.1(ALMS1):c.1977G>A (p.Thr659=) rs201316401 0.00012
NM_001378454.1(ALMS1):c.450+20C>T rs201559095 0.00012
NM_001378454.1(ALMS1):c.1701A>G (p.Thr567=) rs184736482 0.00011
NM_001378454.1(ALMS1):c.3936T>C (p.Asn1312=) rs774630940 0.00011
NM_001378454.1(ALMS1):c.5347C>T (p.Leu1783=) rs562434013 0.00011
NM_001378454.1(ALMS1):c.12298+14G>A rs755931726 0.00010
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=) rs371511963 0.00010
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=) rs367862140 0.00010
NM_001378454.1(ALMS1):c.9600A>C (p.Ala3200=) rs113808259 0.00010
NM_001378454.1(ALMS1):c.10866A>G (p.Glu3622=) rs377601961 0.00009
NM_001378454.1(ALMS1):c.11867A>G (p.His3956Arg) rs553786370 0.00009
NM_001378454.1(ALMS1):c.5982G>A (p.Glu1994=) rs186849322 0.00009
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=) rs1052804740 0.00009
NM_001378454.1(ALMS1):c.9908-13C>T rs373325114 0.00009
NM_001378454.1(ALMS1):c.7140A>G (p.Gln2380=) rs375593700 0.00008
NM_001378454.1(ALMS1):c.8349A>G (p.Lys2783=) rs543502603 0.00008
NM_001378454.1(ALMS1):c.9908-12G>A rs376627151 0.00008
NM_001378454.1(ALMS1):c.11265C>T (p.Ser3755=) rs145984939 0.00007
NM_001378454.1(ALMS1):c.11748G>A (p.Glu3916=) rs373364340 0.00007
NM_001378454.1(ALMS1):c.2493C>T (p.Pro831=) rs561060460 0.00007
NM_001378454.1(ALMS1):c.6615A>T (p.Leu2205=) rs375011895 0.00007
NM_001378454.1(ALMS1):c.6840T>G (p.Pro2280=) rs45580837 0.00007
NM_001378454.1(ALMS1):c.8730T>C (p.His2910=) rs374693631 0.00007
NM_001378454.1(ALMS1):c.9321A>G (p.Val3107=) rs371108940 0.00007
NM_001378454.1(ALMS1):c.10494T>C (p.His3498=) rs769856570 0.00006
NM_001378454.1(ALMS1):c.11872+7T>A rs763235048 0.00006
NM_001378454.1(ALMS1):c.12036C>T (p.Asp4012=) rs370981817 0.00006
NM_001378454.1(ALMS1):c.12093A>G (p.Pro4031=) rs758682688 0.00006
NM_001378454.1(ALMS1):c.12222C>T (p.Thr4074=) rs199638718 0.00006
NM_001378454.1(ALMS1):c.1237+9C>G rs201471551 0.00006
NM_001378454.1(ALMS1):c.1470A>G (p.Gln490=) rs769982352 0.00006
NM_001378454.1(ALMS1):c.1548C>G (p.Asp516Glu) rs202002052 0.00006
NM_001378454.1(ALMS1):c.1557G>A (p.Gln519=) rs764869245 0.00006
NM_001378454.1(ALMS1):c.168C>T (p.Ser56=) rs748955296 0.00006
NM_001378454.1(ALMS1):c.279C>T (p.Pro93=) rs770203539 0.00006
NM_001378454.1(ALMS1):c.3096C>A (p.Gly1032=) rs368659119 0.00006
NM_001378454.1(ALMS1):c.3399G>A (p.Lys1133=) rs376683428 0.00006
NM_001378454.1(ALMS1):c.4341T>C (p.His1447=) rs770081169 0.00006
NM_001378454.1(ALMS1):c.4731G>A (p.Pro1577=) rs747216050 0.00006
NM_001378454.1(ALMS1):c.567T>C (p.Ser189=) rs754250279 0.00006
NM_001378454.1(ALMS1):c.5835G>A (p.Glu1945=) rs529600949 0.00006
NM_001378454.1(ALMS1):c.7719A>G (p.Val2573=) rs561565809 0.00006
NM_001378454.1(ALMS1):c.7764G>A (p.Arg2588=) rs565248215 0.00006
NM_001378454.1(ALMS1):c.7976C>G (p.Pro2659Arg) rs537509954 0.00006
NM_001378454.1(ALMS1):c.9495C>T (p.Phe3165=) rs45607436 0.00006
NM_001378454.1(ALMS1):c.1710A>C (p.Val570=) rs201095989 0.00005
NM_001378454.1(ALMS1):c.2874C>T (p.Ser958=) rs541122374 0.00005
NM_001378454.1(ALMS1):c.432G>A (p.Arg144=) rs772143925 0.00005
NM_001378454.1(ALMS1):c.4857A>G (p.Ala1619=) rs367772965 0.00005
NM_001378454.1(ALMS1):c.5447A>G (p.Tyr1816Cys) rs780110659 0.00005
NM_001378454.1(ALMS1):c.558C>T (p.Asp186=) rs370228166 0.00005
NM_001378454.1(ALMS1):c.60G>A (p.Glu20=) rs183407241 0.00005
NM_001378454.1(ALMS1):c.8811T>C (p.Tyr2937=) rs541559170 0.00005
NM_001378454.1(ALMS1):c.8918C>T (p.Ala2973Val) rs202110907 0.00005
NM_001378454.1(ALMS1):c.8961T>A (p.Leu2987=) rs201937708 0.00005
NM_001378454.1(ALMS1):c.9018C>T (p.His3006=) rs376757358 0.00005
NM_001378454.1(ALMS1):c.10038C>T (p.Ser3346=) rs375436336 0.00004
NM_001378454.1(ALMS1):c.10858A>C (p.Arg3620=) rs201598829 0.00004
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=) rs750087396 0.00004
NM_001378454.1(ALMS1):c.11547+16T>C rs373935106 0.00004
NM_001378454.1(ALMS1):c.11669-17A>G rs762591261 0.00004
NM_001378454.1(ALMS1):c.11928C>T (p.Asn3976=) rs571782143 0.00004
NM_001378454.1(ALMS1):c.12054A>G (p.Ala4018=) rs998039859 0.00004
NM_001378454.1(ALMS1):c.12120G>A (p.Ser4040=) rs764462322 0.00004
NM_001378454.1(ALMS1):c.12174C>T (p.Arg4058=) rs377661858 0.00004
NM_001378454.1(ALMS1):c.12285G>A (p.Pro4095=) rs776912137 0.00004
NM_001378454.1(ALMS1):c.1238-9A>G rs372652836 0.00004
NM_001378454.1(ALMS1):c.12432A>G (p.Ser4144=) rs762630256 0.00004
NM_001378454.1(ALMS1):c.1432+15G>A rs376610564 0.00004
NM_001378454.1(ALMS1):c.1695T>C (p.Thr565=) rs368992526 0.00004
NM_001378454.1(ALMS1):c.1815T>G (p.Pro605=) rs983651117 0.00004
NM_001378454.1(ALMS1):c.2022C>T (p.Asp674=) rs374151754 0.00004
NM_001378454.1(ALMS1):c.2370T>G (p.Val790=) rs370372529 0.00004
NM_001378454.1(ALMS1):c.2577G>A (p.Ala859=) rs547563359 0.00004
NM_001378454.1(ALMS1):c.4140T>C (p.Ser1380=) rs1362041238 0.00004
NM_001378454.1(ALMS1):c.435T>C (p.Gly145=) rs541827475 0.00004
NM_001378454.1(ALMS1):c.450+11T>C rs763724672 0.00004
NM_001378454.1(ALMS1):c.451-5T>G rs774098604 0.00004
NM_001378454.1(ALMS1):c.5355T>G (p.Val1785=) rs1420283861 0.00004
NM_001378454.1(ALMS1):c.6087T>C (p.Thr2029=) rs199967386 0.00004
NM_001378454.1(ALMS1):c.7017G>A (p.Gln2339=) rs190319211 0.00004
NM_001378454.1(ALMS1):c.7464A>G (p.Gln2488=) rs765766155 0.00004
NM_001378454.1(ALMS1):c.7541-14T>C rs554746330 0.00004
NM_001378454.1(ALMS1):c.8109G>A (p.Pro2703=) rs759983484 0.00004
NM_001378454.1(ALMS1):c.9381C>T (p.Val3127=) rs754743943 0.00004
NM_001378454.1(ALMS1):c.9477A>G (p.Gln3159=) rs759377981 0.00004
NM_001378454.1(ALMS1):c.9782-19C>A rs777706370 0.00004
NM_001378454.1(ALMS1):c.1032A>G (p.Ser344=) rs376519124 0.00003
NM_001378454.1(ALMS1):c.10389C>T (p.Ser3463=) rs760299487 0.00003
NM_001378454.1(ALMS1):c.11283C>T (p.Val3761=) rs183916999 0.00003
NM_001378454.1(ALMS1):c.12147C>T (p.Ile4049=) rs374328093 0.00003
NM_001378454.1(ALMS1):c.12165G>A (p.Arg4055=) rs758365496 0.00003
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=) rs199603690 0.00003
NM_001378454.1(ALMS1):c.12354G>A (p.Arg4118=) rs546745992 0.00003
NM_001378454.1(ALMS1):c.1773C>T (p.Asp591=) rs369744185 0.00003
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=) rs750362630 0.00003
NM_001378454.1(ALMS1):c.2122A>G (p.Thr708Ala) rs571389435 0.00003
NM_001378454.1(ALMS1):c.2196C>T (p.Asp732=) rs754758293 0.00003
NM_001378454.1(ALMS1):c.2775T>C (p.Phe925=) rs958251140 0.00003
NM_001378454.1(ALMS1):c.2922A>T (p.Leu974=) rs199769789 0.00003
NM_001378454.1(ALMS1):c.3420C>T (p.Thr1140=) rs1300610392 0.00003
NM_001378454.1(ALMS1):c.3432C>T (p.Tyr1144=) rs768929630 0.00003
NM_001378454.1(ALMS1):c.3768T>C (p.Asn1256=) rs1273618684 0.00003
NM_001378454.1(ALMS1):c.451-4C>G rs761589577 0.00003
NM_001378454.1(ALMS1):c.4761T>C (p.Asp1587=) rs747858041 0.00003
NM_001378454.1(ALMS1):c.4872C>T (p.Pro1624=) rs372692493 0.00003
NM_001378454.1(ALMS1):c.4938T>G (p.Ala1646=) rs767547246 0.00003
NM_001378454.1(ALMS1):c.6303G>A (p.Ser2101=) rs555344566 0.00003
NM_001378454.1(ALMS1):c.646+17T>C rs763246949 0.00003
NM_001378454.1(ALMS1):c.75A>G (p.Glu25=) rs13009043 0.00003
NM_001378454.1(ALMS1):c.7675-19G>A rs1399037677 0.00003
NM_001378454.1(ALMS1):c.8016C>T (p.Phe2672=) rs762352626 0.00003
NM_001378454.1(ALMS1):c.8577G>A (p.Ser2859=) rs199850691 0.00003
NM_001378454.1(ALMS1):c.9888C>T (p.Thr3296=) rs372451785 0.00003
NM_001378454.1(ALMS1):c.10020G>A (p.Arg3340=) rs746166271 0.00002
NM_001378454.1(ALMS1):c.10023A>G (p.Val3341=) rs770072519 0.00002
NM_001378454.1(ALMS1):c.10214-19G>A rs763103896 0.00002
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=) rs1464934308 0.00002
NM_001378454.1(ALMS1):c.10461C>T (p.Pro3487=) rs202036843 0.00002
NM_001378454.1(ALMS1):c.11499A>G (p.Thr3833=) rs762899971 0.00002
NM_001378454.1(ALMS1):c.11550A>G (p.Val3850=) rs45630561 0.00002
NM_001378454.1(ALMS1):c.11574C>T (p.Asp3858=) rs561636004 0.00002
NM_001378454.1(ALMS1):c.11668+17A>G rs201109126 0.00002
NM_001378454.1(ALMS1):c.11703C>T (p.His3901=) rs1221566713 0.00002
NM_001378454.1(ALMS1):c.11742C>T (p.Ser3914=) rs374909171 0.00002
NM_001378454.1(ALMS1):c.11755T>C (p.Leu3919=) rs750372739 0.00002
NM_001378454.1(ALMS1):c.12024G>A (p.Gly4008=) rs758602294 0.00002
NM_001378454.1(ALMS1):c.120A>G (p.Val40=) rs537537228 0.00002
NM_001378454.1(ALMS1):c.12126G>A (p.Gln4042=) rs763332177 0.00002
NM_001378454.1(ALMS1):c.12321C>T (p.Asn4107=) rs767420244 0.00002
NM_001378454.1(ALMS1):c.12363-12G>A rs749504196 0.00002
NM_001378454.1(ALMS1):c.1237+8C>A rs771449454 0.00002
NM_001378454.1(ALMS1):c.1238-16del rs746989906 0.00002
NM_001378454.1(ALMS1):c.1338+18G>A rs369695595 0.00002
NM_001378454.1(ALMS1):c.1566A>G (p.Val522=) rs1411790516 0.00002
NM_001378454.1(ALMS1):c.1578A>G (p.Leu526=) rs753222733 0.00002
NM_001378454.1(ALMS1):c.1731T>C (p.His577=) rs768761501 0.00002
NM_001378454.1(ALMS1):c.1884T>C (p.Pro628=) rs373831151 0.00002
NM_001378454.1(ALMS1):c.1968G>A (p.Glu656=) rs1040684345 0.00002
NM_001378454.1(ALMS1):c.228C>G (p.Ala76=) rs755847221 0.00002
NM_001378454.1(ALMS1):c.2502T>C (p.Ala834=) rs761599987 0.00002
NM_001378454.1(ALMS1):c.2817A>G (p.Val939=) rs376517753 0.00002
NM_001378454.1(ALMS1):c.2850G>A (p.Val950=) rs551541932 0.00002
NM_001378454.1(ALMS1):c.2961G>A (p.Leu987=) rs745503022 0.00002
NM_001378454.1(ALMS1):c.2997T>G (p.Pro999=) rs1427354998 0.00002
NM_001378454.1(ALMS1):c.3048G>A (p.Glu1016=) rs765275016 0.00002
NM_001378454.1(ALMS1):c.315C>T (p.Ser105=) rs754611450 0.00002
NM_001378454.1(ALMS1):c.3561A>G (p.Val1187=) rs777970870 0.00002
NM_001378454.1(ALMS1):c.3591A>G (p.Lys1197=) rs773852068 0.00002
NM_001378454.1(ALMS1):c.3762A>G (p.Pro1254=) rs771791019 0.00002
NM_001378454.1(ALMS1):c.387A>G (p.Gln129=) rs746391155 0.00002
NM_001378454.1(ALMS1):c.3882C>T (p.Ser1294=) rs746658957 0.00002
NM_001378454.1(ALMS1):c.4131C>T (p.Thr1377=) rs759705921 0.00002
NM_001378454.1(ALMS1):c.4221C>T (p.Asn1407=) rs761902133 0.00002
NM_001378454.1(ALMS1):c.4314C>T (p.Phe1438=) rs541180403 0.00002
NM_001378454.1(ALMS1):c.4464G>A (p.Gln1488=) rs770845249 0.00002
NM_001378454.1(ALMS1):c.450+7C>A rs775200355 0.00002
NM_001378454.1(ALMS1):c.451-20T>C rs762592063 0.00002
NM_001378454.1(ALMS1):c.4758A>G (p.Pro1586=) rs778600773 0.00002
NM_001378454.1(ALMS1):c.5163C>T (p.Phe1721=) rs1222275039 0.00002
NM_001378454.1(ALMS1):c.5532C>T (p.Asn1844=) rs369656698 0.00002
NM_001378454.1(ALMS1):c.5565G>A (p.Glu1855=) rs535259433 0.00002
NM_001378454.1(ALMS1):c.6231C>A (p.Val2077=) rs748449043 0.00002
NM_001378454.1(ALMS1):c.6441A>G (p.Lys2147=) rs776254949 0.00002
NM_001378454.1(ALMS1):c.6444A>G (p.Pro2148=) rs1220162012 0.00002
NM_001378454.1(ALMS1):c.6498A>C (p.Leu2166=) rs778927340 0.00002
NM_001378454.1(ALMS1):c.6567C>T (p.Tyr2189=) rs368523556 0.00002
NM_001378454.1(ALMS1):c.6820C>T (p.Leu2274=) rs1447282271 0.00002
NM_001378454.1(ALMS1):c.7020G>A (p.Thr2340=) rs760756852 0.00002
NM_001378454.1(ALMS1):c.7143T>C (p.Tyr2381=) rs1241546898 0.00002
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=) rs373972884 0.00002
NM_001378454.1(ALMS1):c.7281G>A (p.Ser2427=) rs200684911 0.00002
NM_001378454.1(ALMS1):c.7541-6C>T rs1408073039 0.00002
NM_001378454.1(ALMS1):c.764+19A>G rs1035974697 0.00002
NM_001378454.1(ALMS1):c.765-12A>G rs200209691 0.00002
NM_001378454.1(ALMS1):c.7674+9G>T rs1046548369 0.00002
NM_001378454.1(ALMS1):c.7701A>T (p.Gly2567=) rs767409467 0.00002
NM_001378454.1(ALMS1):c.7710A>C (p.Pro2570=) rs750225944 0.00002
NM_001378454.1(ALMS1):c.78G>A (p.Glu26=) rs13009604 0.00002
NM_001378454.1(ALMS1):c.8040G>T (p.Leu2680=) rs755241265 0.00002
NM_001378454.1(ALMS1):c.813G>A (p.Ser271=) rs775482774 0.00002
NM_001378454.1(ALMS1):c.8181C>G (p.Ser2727=) rs747669538 0.00002
NM_001378454.1(ALMS1):c.821G>A (p.Ser274Asn) rs767513098 0.00002
NM_001378454.1(ALMS1):c.8379G>A (p.Arg2793=) rs559811855 0.00002
NM_001378454.1(ALMS1):c.8589A>G (p.Leu2863=) rs778918786 0.00002
NM_001378454.1(ALMS1):c.8928A>G (p.Val2976=) rs373374154 0.00002
NM_001378454.1(ALMS1):c.9075A>G (p.Pro3025=) rs1278648561 0.00002
NM_001378454.1(ALMS1):c.9126A>G (p.Lys3042=) rs781138734 0.00002
NM_001378454.1(ALMS1):c.921G>A (p.Gly307=) rs1290857231 0.00002
NM_001378454.1(ALMS1):c.9231G>A (p.Ala3077=) rs1328459312 0.00002
NM_001378454.1(ALMS1):c.9276G>A (p.Ser3092=) rs1462656920 0.00002
NM_001378454.1(ALMS1):c.9324A>G (p.Ala3108=) rs747570402 0.00002
NM_001378454.1(ALMS1):c.9360A>G (p.Lys3120=) rs368408369 0.00002
NM_001378454.1(ALMS1):c.9708G>A (p.Lys3236=) rs574095166 0.00002
NM_001378454.1(ALMS1):c.9907+7T>G rs375870610 0.00002
NM_001378454.1(ALMS1):c.9907+8G>A rs369727166 0.00002
NM_001378454.1(ALMS1):c.10011C>T (p.Tyr3337=) rs757671067 0.00001
NM_001378454.1(ALMS1):c.10059C>T (p.Pro3353=) rs1180602339 0.00001
NM_001378454.1(ALMS1):c.10078+10T>C rs752454047 0.00001
NM_001378454.1(ALMS1):c.10079-10G>A rs778996015 0.00001
NM_001378454.1(ALMS1):c.10122A>G (p.Ser3374=) rs761165541 0.00001
NM_001378454.1(ALMS1):c.10137A>G (p.Gln3379=) rs756623131 0.00001
NM_001378454.1(ALMS1):c.10179T>C (p.Ala3393=) rs749030025 0.00001
NM_001378454.1(ALMS1):c.10213+11T>C rs1553416883 0.00001
NM_001378454.1(ALMS1):c.10214-4G>A rs757482053 0.00001
NM_001378454.1(ALMS1):c.10214-5C>T rs751591632 0.00001
NM_001378454.1(ALMS1):c.10233T>G (p.Ala3411=) rs746651541 0.00001
NM_001378454.1(ALMS1):c.10251A>G (p.Gln3417=) rs770284777 0.00001
NM_001378454.1(ALMS1):c.10263A>G (p.Pro3421=) rs1446989496 0.00001
NM_001378454.1(ALMS1):c.1035T>C (p.Tyr345=) rs762735674 0.00001
NM_001378454.1(ALMS1):c.10385-5T>C rs1345014390 0.00001
NM_001378454.1(ALMS1):c.10385-9C>T rs568809052 0.00001
NM_001378454.1(ALMS1):c.10425T>C (p.Ser3475=) rs767283952 0.00001
NM_001378454.1(ALMS1):c.10440A>G (p.Ala3480=) rs375046790 0.00001
NM_001378454.1(ALMS1):c.10467C>T (p.His3489=) rs371631738 0.00001
NM_001378454.1(ALMS1):c.10497A>G (p.Glu3499=) rs1674948697 0.00001
NM_001378454.1(ALMS1):c.10506A>G (p.Gly3502=) rs1305325242 0.00001
NM_001378454.1(ALMS1):c.10611G>A (p.Lys3537=) rs1470146152 0.00001
NM_001378454.1(ALMS1):c.10803G>A (p.Leu3601=) rs1246917834 0.00001
NM_001378454.1(ALMS1):c.10854T>A (p.Gly3618=) rs1460043103 0.00001
NM_001378454.1(ALMS1):c.10947T>C (p.Ser3649=) rs373024720 0.00001
NM_001378454.1(ALMS1):c.10962C>T (p.Ser3654=) rs1674967989 0.00001
NM_001378454.1(ALMS1):c.10968G>C (p.Gly3656=) rs1439789927 0.00001
NM_001378454.1(ALMS1):c.11004G>A (p.Gln3668=) rs761324500 0.00001
NM_001378454.1(ALMS1):c.11028G>A (p.Lys3676=) rs1275803711 0.00001
NM_001378454.1(ALMS1):c.1104A>G (p.Ser368=) rs1279010454 0.00001
NM_001378454.1(ALMS1):c.11064T>C (p.Asn3688=) rs758563118 0.00001
NM_001378454.1(ALMS1):c.11073G>A (p.Glu3691=) rs1421582809 0.00001
NM_001378454.1(ALMS1):c.11104C>A (p.Arg3702=) rs747747269 0.00001
NM_001378454.1(ALMS1):c.11163G>C (p.Leu3721=) rs563578298 0.00001
NM_001378454.1(ALMS1):c.11205G>A (p.Ser3735=) rs368226507 0.00001
NM_001378454.1(ALMS1):c.11220A>G (p.Ser3740=) rs1674977838 0.00001
NM_001378454.1(ALMS1):c.11310T>C (p.Asp3770=) rs1438099503 0.00001
NM_001378454.1(ALMS1):c.11397A>G (p.Val3799=) rs369063904 0.00001
NM_001378454.1(ALMS1):c.11400C>T (p.Cys3800=) rs1215015585 0.00001
NM_001378454.1(ALMS1):c.11424A>G (p.Leu3808=) rs760607996 0.00001
NM_001378454.1(ALMS1):c.11457C>T (p.Tyr3819=) rs373397289 0.00001
NM_001378454.1(ALMS1):c.11547+11A>G rs1674988694 0.00001
NM_001378454.1(ALMS1):c.11547+13A>G rs753246208 0.00001
NM_001378454.1(ALMS1):c.11548-5T>C rs1239982754 0.00001
NM_001378454.1(ALMS1):c.11643C>T (p.His3881=) rs1296746698 0.00001
NM_001378454.1(ALMS1):c.11668+9T>C rs1675626765 0.00001
NM_001378454.1(ALMS1):c.11669-12C>T rs774970704 0.00001
NM_001378454.1(ALMS1):c.11669-14A>G rs768036112 0.00001
NM_001378454.1(ALMS1):c.11669-8C>T rs1220049600 0.00001
NM_001378454.1(ALMS1):c.11688C>T (p.Asn3896=) rs202172921 0.00001
NM_001378454.1(ALMS1):c.1185G>A (p.Gly395=) rs1450546722 0.00001
NM_001378454.1(ALMS1):c.11872+9C>A rs768886966 0.00001
NM_001378454.1(ALMS1):c.11873-11G>A rs571456553 0.00001
NM_001378454.1(ALMS1):c.1188G>A (p.Gln396=) rs368655814 0.00001
NM_001378454.1(ALMS1):c.11931G>A (p.Val3977=) rs755392274 0.00001
NM_001378454.1(ALMS1):c.11937C>T (p.Asn3979=) rs1204975430 0.00001
NM_001378454.1(ALMS1):c.1197A>G (p.Thr399=) rs756136557 0.00001
NM_001378454.1(ALMS1):c.11997G>A (p.Glu3999=) rs756694050 0.00001
NM_001378454.1(ALMS1):c.12027G>A (p.Gln4009=) rs1406016543 0.00001
NM_001378454.1(ALMS1):c.12108C>G (p.Thr4036=) rs767174517 0.00001
NM_001378454.1(ALMS1):c.12114+11G>A rs771751866 0.00001
NM_001378454.1(ALMS1):c.12114+12T>C rs377393930 0.00001
NM_001378454.1(ALMS1):c.12115-16T>C rs746685261 0.00001
NM_001378454.1(ALMS1):c.12216A>G (p.Leu4072=) rs769083768 0.00001
NM_001378454.1(ALMS1):c.12237A>G (p.Leu4079=) rs780806925 0.00001
NM_001378454.1(ALMS1):c.12282C>T (p.Cys4094=) rs760968067 0.00001
NM_001378454.1(ALMS1):c.12298+13C>T rs202064010 0.00001
NM_001378454.1(ALMS1):c.12298+7C>T rs1252100215 0.00001
NM_001378454.1(ALMS1):c.12299-6G>A rs771317399 0.00001
NM_001378454.1(ALMS1):c.12362+7C>A rs1257275977 0.00001
NM_001378454.1(ALMS1):c.12447C>T (p.Ala4149=) rs374020124 0.00001
NM_001378454.1(ALMS1):c.12453A>G (p.Leu4151=) rs749502767 0.00001
NM_001378454.1(ALMS1):c.12456T>C (p.Tyr4152=) rs1348620586 0.00001
NM_001378454.1(ALMS1):c.12462+10T>C rs748315200 0.00001
NM_001378454.1(ALMS1):c.12463-14C>G rs766656843 0.00001
NM_001378454.1(ALMS1):c.12463-4A>G rs755283383 0.00001
NM_001378454.1(ALMS1):c.12483G>A (p.Leu4161=) rs756592287 0.00001
NM_001378454.1(ALMS1):c.126C>T (p.Val42=) rs766762252 0.00001
NM_001378454.1(ALMS1):c.1272T>C (p.Ile424=) rs544932125 0.00001
NM_001378454.1(ALMS1):c.1302T>C (p.Val434=) rs1325950841 0.00001
NM_001378454.1(ALMS1):c.1329A>G (p.Leu443=) rs1246412833 0.00001
NM_001378454.1(ALMS1):c.1338+10A>G rs1430183145 0.00001
NM_001378454.1(ALMS1):c.1339-12G>T rs1260375872 0.00001
NM_001378454.1(ALMS1):c.1353G>A (p.Ser451=) rs370873335 0.00001
NM_001378454.1(ALMS1):c.1368A>T (p.Ser456=) rs1275741570 0.00001
NM_001378454.1(ALMS1):c.1381T>C (p.Leu461=) rs935279576 0.00001
NM_001378454.1(ALMS1):c.1386G>A (p.Arg462=) rs749794703 0.00001
NM_001378454.1(ALMS1):c.1423T>C (p.Leu475=) rs1313456848 0.00001
NM_001378454.1(ALMS1):c.1425A>G (p.Leu475=) rs767100210 0.00001
NM_001378454.1(ALMS1):c.1432+7A>G rs1468328132 0.00001
NM_001378454.1(ALMS1):c.1437C>T (p.Asp479=) rs372610345 0.00001
NM_001378454.1(ALMS1):c.1449A>G (p.Gly483=) rs753352047 0.00001
NM_001378454.1(ALMS1):c.1452C>T (p.Gly484=) rs758794145 0.00001
NM_001378454.1(ALMS1):c.150G>T (p.Ala50=) rs757262099 0.00001
NM_001378454.1(ALMS1):c.1521A>C (p.Gly507=) rs760374410 0.00001
NM_001378454.1(ALMS1):c.1533C>T (p.Ser511=) rs753538515 0.00001
NM_001378454.1(ALMS1):c.1617A>G (p.Gln539=) rs1483766765 0.00001
NM_001378454.1(ALMS1):c.162G>A (p.Leu54=) rs1313030064 0.00001
NM_001378454.1(ALMS1):c.1653T>C (p.Thr551=) rs1280098713 0.00001
NM_001378454.1(ALMS1):c.1707A>G (p.Thr569=) rs752130351 0.00001
NM_001378454.1(ALMS1):c.1734G>A (p.Arg578=) rs1027908105 0.00001
NM_001378454.1(ALMS1):c.1758G>A (p.Gln586=) rs377037998 0.00001
NM_001378454.1(ALMS1):c.1776T>C (p.Ser592=) rs746995241 0.00001
NM_001378454.1(ALMS1):c.1809T>A (p.Ala603=) rs1558647545 0.00001
NM_001378454.1(ALMS1):c.1854C>T (p.Thr618=) rs1327400351 0.00001
NM_001378454.1(ALMS1):c.1863C>A (p.Ser621=) rs1415449725 0.00001
NM_001378454.1(ALMS1):c.1866C>T (p.Tyr622=) rs1474922476 0.00001
NM_001378454.1(ALMS1):c.1926C>T (p.Thr642=) rs745591025 0.00001
NM_001378454.1(ALMS1):c.1962A>G (p.Pro654=) rs1572931748 0.00001
NM_001378454.1(ALMS1):c.2049G>A (p.Leu683=) rs1572931934 0.00001
NM_001378454.1(ALMS1):c.2079G>C (p.Leu693=) rs1320005523 0.00001
NM_001378454.1(ALMS1):c.2082A>G (p.Lys694=) rs1221929641 0.00001
NM_001378454.1(ALMS1):c.2121G>A (p.Gly707=) rs878854997 0.00001
NM_001378454.1(ALMS1):c.2136C>T (p.Leu712=) rs747504060 0.00001
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=) rs572605877 0.00001
NM_001378454.1(ALMS1):c.2187G>A (p.Glu729=) rs536950181 0.00001
NM_001378454.1(ALMS1):c.21A>T (p.Pro7=) rs373614102 0.00001
NM_001378454.1(ALMS1):c.2271A>G (p.Pro757=) rs770172498 0.00001
NM_001378454.1(ALMS1):c.2322C>T (p.Tyr774=) rs752503817 0.00001
NM_001378454.1(ALMS1):c.234C>T (p.Ala78=) rs368947491 0.00001
NM_001378454.1(ALMS1):c.2394C>T (p.Asp798=) rs749555689 0.00001
NM_001378454.1(ALMS1):c.2400G>A (p.Lys800=) rs748416864 0.00001
NM_001378454.1(ALMS1):c.2454T>C (p.Leu818=) rs1247367857 0.00001
NM_001378454.1(ALMS1):c.2463C>T (p.Tyr821=) rs936723133 0.00001
NM_001378454.1(ALMS1):c.2466A>G (p.Gln822=) rs755661115 0.00001
NM_001378454.1(ALMS1):c.2472C>G (p.Ala824=) rs368270850 0.00001
NM_001378454.1(ALMS1):c.2481C>T (p.Asp827=) rs748371743 0.00001
NM_001378454.1(ALMS1):c.2517T>G (p.Ala839=) rs765949316 0.00001
NM_001378454.1(ALMS1):c.2547G>T (p.Gly849=) rs1469851023 0.00001
NM_001378454.1(ALMS1):c.2562C>T (p.Thr854=) rs1224727067 0.00001
NM_001378454.1(ALMS1):c.2598G>A (p.Lys866=) rs760421159 0.00001
NM_001378454.1(ALMS1):c.2676A>G (p.Gly892=) rs745887923 0.00001
NM_001378454.1(ALMS1):c.27G>C (p.Pro9=) rs1283224132 0.00001
NM_001378454.1(ALMS1):c.2818T>C (p.Leu940=) rs1354122111 0.00001
NM_001378454.1(ALMS1):c.282G>C (p.Pro94=) rs764095354 0.00001
NM_001378454.1(ALMS1):c.3009C>T (p.Phe1003=) rs1572933379 0.00001
NM_001378454.1(ALMS1):c.3153A>C (p.Pro1051=) rs1392773390 0.00001
NM_001378454.1(ALMS1):c.316C>T (p.Leu106=) rs1442317986 0.00001
NM_001378454.1(ALMS1):c.321G>A (p.Glu107=) rs1307758613 0.00001
NM_001378454.1(ALMS1):c.3234C>G (p.Ala1078=) rs771305195 0.00001
NM_001378454.1(ALMS1):c.324+10G>C rs778690416 0.00001
NM_001378454.1(ALMS1):c.324+15G>C rs1670526210 0.00001
NM_001378454.1(ALMS1):c.3246A>G (p.Pro1082=) rs532389598 0.00001
NM_001378454.1(ALMS1):c.325-6T>C rs760582213 0.00001
NM_001378454.1(ALMS1):c.325-8A>G rs200740825 0.00001
NM_001378454.1(ALMS1):c.3267A>G (p.Thr1089=) rs773260160 0.00001
NM_001378454.1(ALMS1):c.3279G>A (p.Pro1093=) rs751312971 0.00001
NM_001378454.1(ALMS1):c.3291C>T (p.Tyr1097=) rs933667520 0.00001
NM_001378454.1(ALMS1):c.3324A>G (p.Gln1108=) rs780391682 0.00001
NM_001378454.1(ALMS1):c.3336A>G (p.Pro1112=) rs774634872 0.00001
NM_001378454.1(ALMS1):c.333A>G (p.Pro111=) rs1190737675 0.00001
NM_001378454.1(ALMS1):c.3450G>A (p.Lys1150=) rs373926995 0.00001
NM_001378454.1(ALMS1):c.35_36insCGAGGAGGAGGA (p.Glu28_Ala29insGluGluGluGlu) rs764804760 0.00001
NM_001378454.1(ALMS1):c.3696A>G (p.Pro1232=) rs766030249 0.00001
NM_001378454.1(ALMS1):c.3717C>T (p.Tyr1239=) rs1435076239 0.00001
NM_001378454.1(ALMS1):c.3879C>G (p.Pro1293=) rs758192739 0.00001
NM_001378454.1(ALMS1):c.3900G>A (p.Ser1300=) rs1480882041 0.00001
NM_001378454.1(ALMS1):c.3921T>C (p.Thr1307=) rs948851454 0.00001
NM_001378454.1(ALMS1):c.3930T>C (p.Ala1310=) rs1558649057 0.00001
NM_001378454.1(ALMS1):c.402T>C (p.Asn134=) rs1240872723 0.00001
NM_001378454.1(ALMS1):c.4098A>G (p.Pro1366=) rs772462489 0.00001
NM_001378454.1(ALMS1):c.4176C>T (p.Tyr1392=) rs772411117 0.00001
NM_001378454.1(ALMS1):c.417A>G (p.Glu139=) rs1671018870 0.00001
NM_001378454.1(ALMS1):c.4230G>A (p.Ala1410=) rs546247768 0.00001
NM_001378454.1(ALMS1):c.4254G>A (p.Lys1418=) rs1409007880 0.00001
NM_001378454.1(ALMS1):c.4398T>A (p.Ile1466=) rs762342999 0.00001
NM_001378454.1(ALMS1):c.4470T>C (p.Phe1490=) rs776573127 0.00001
NM_001378454.1(ALMS1):c.450+16C>T rs1443506357 0.00001
NM_001378454.1(ALMS1):c.451-19T>C rs768590349 0.00001
NM_001378454.1(ALMS1):c.4536A>G (p.Thr1512=) rs972719043 0.00001
NM_001378454.1(ALMS1):c.4584A>C (p.Ala1528=) rs1463648060 0.00001
NM_001378454.1(ALMS1):c.4615C>T (p.Leu1539=) rs754001171 0.00001
NM_001378454.1(ALMS1):c.474T>G (p.Leu158=) rs1671237121 0.00001
NM_001378454.1(ALMS1):c.4770A>G (p.Leu1590=) rs772781647 0.00001
NM_001378454.1(ALMS1):c.4824T>G (p.Thr1608=) rs368170757 0.00001
NM_001378454.1(ALMS1):c.4827C>T (p.Asp1609=) rs371708421 0.00001
NM_001378454.1(ALMS1):c.4959G>A (p.Gln1653=) rs577161825 0.00001
NM_001378454.1(ALMS1):c.4995C>T (p.Tyr1665=) rs762003836 0.00001
NM_001378454.1(ALMS1):c.5079T>C (p.Pro1693=) rs751254168 0.00001
NM_001378454.1(ALMS1):c.5121A>G (p.Val1707=) rs1452302408 0.00001
NM_001378454.1(ALMS1):c.5124C>T (p.Ser1708=) rs1172791139 0.00001
NM_001378454.1(ALMS1):c.5199A>G (p.Gln1733=) rs374143515 0.00001
NM_001378454.1(ALMS1):c.519T>A (p.Thr173=) rs749270228 0.00001
NM_001378454.1(ALMS1):c.5253A>G (p.Leu1751=) rs1212958211 0.00001
NM_001378454.1(ALMS1):c.5328T>C (p.Ser1776=) rs745907642 0.00001
NM_001378454.1(ALMS1):c.537G>A (p.Thr179=) rs544125936 0.00001
NM_001378454.1(ALMS1):c.5412T>C (p.Thr1804=) rs1671951033 0.00001
NM_001378454.1(ALMS1):c.5430G>A (p.Glu1810=) rs781538261 0.00001
NM_001378454.1(ALMS1):c.546T>C (p.Thr182=) rs771906516 0.00001
NM_001378454.1(ALMS1):c.5538G>T (p.Leu1846=) rs768057574 0.00001
NM_001378454.1(ALMS1):c.5556A>G (p.Pro1852=) rs372017680 0.00001
NM_001378454.1(ALMS1):c.5625A>G (p.Ala1875=) rs1214725052 0.00001
NM_001378454.1(ALMS1):c.5727G>A (p.Glu1909=) rs748955901 0.00001
NM_001378454.1(ALMS1):c.588G>A (p.Thr196=) rs1448744121 0.00001
NM_001378454.1(ALMS1):c.591A>G (p.Gln197=) rs373438786 0.00001
NM_001378454.1(ALMS1):c.5937G>C (p.Gly1979=) rs753533853 0.00001
NM_001378454.1(ALMS1):c.6003G>C (p.Val2001=) rs765190182 0.00001
NM_001378454.1(ALMS1):c.6084A>G (p.Ser2028=) rs776704483 0.00001
NM_001378454.1(ALMS1):c.6141C>G (p.Ser2047=) rs960120562 0.00001
NM_001378454.1(ALMS1):c.6177A>G (p.Gln2059=) rs202168524 0.00001
NM_001378454.1(ALMS1):c.6201A>G (p.Gln2067=) rs1422537312 0.00001
NM_001378454.1(ALMS1):c.6219G>A (p.Lys2073=) rs1383333428 0.00001
NM_001378454.1(ALMS1):c.6243T>C (p.Thr2081=) rs1034084163 0.00001
NM_001378454.1(ALMS1):c.6267A>C (p.Val2089=) rs1357847945 0.00001
NM_001378454.1(ALMS1):c.646+8C>G rs760012033 0.00001
NM_001378454.1(ALMS1):c.6483A>G (p.Leu2161=) rs750552165 0.00001
NM_001378454.1(ALMS1):c.6495T>C (p.Ala2165=) rs189124891 0.00001
NM_001378454.1(ALMS1):c.6525T>A (p.Ala2175=) rs770611166 0.00001
NM_001378454.1(ALMS1):c.6552T>A (p.Val2184=) rs1314059869 0.00001
NM_001378454.1(ALMS1):c.6633T>G (p.Ser2211=) rs745443498 0.00001
NM_001378454.1(ALMS1):c.6729T>C (p.Asp2243=) rs745661762 0.00001
NM_001378454.1(ALMS1):c.6894G>A (p.Lys2298=) rs776841349 0.00001
NM_001378454.1(ALMS1):c.6897G>A (p.Lys2299=) rs1407961591 0.00001
NM_001378454.1(ALMS1):c.6933A>G (p.Val2311=) rs760397485 0.00001
NM_001378454.1(ALMS1):c.6966C>T (p.Phe2322=) rs370287018 0.00001
NM_001378454.1(ALMS1):c.7005T>C (p.Asp2335=) rs781592497 0.00001
NM_001378454.1(ALMS1):c.7089A>G (p.Leu2363=) rs751020257 0.00001
NM_001378454.1(ALMS1):c.7122A>G (p.Leu2374=) rs780149631 0.00001
NM_001378454.1(ALMS1):c.7125A>G (p.Glu2375=) rs1043215081 0.00001
NM_001378454.1(ALMS1):c.7128A>G (p.Glu2376=) rs1671997943 0.00001
NM_001378454.1(ALMS1):c.7165A>C (p.Arg2389=) rs765016221 0.00001
NM_001378454.1(ALMS1):c.7257C>T (p.Ala2419=) rs1476708147 0.00001
NM_001378454.1(ALMS1):c.72G>A (p.Glu24=) rs1483677896 0.00001
NM_001378454.1(ALMS1):c.7488T>C (p.Ala2496=) rs778108392 0.00001
NM_001378454.1(ALMS1):c.7500C>T (p.Leu2500=) rs751719112 0.00001
NM_001378454.1(ALMS1):c.7540+17A>G rs760021552 0.00001
NM_001378454.1(ALMS1):c.764+14T>C rs1553400457 0.00001
NM_001378454.1(ALMS1):c.765-10A>G rs568327363 0.00001
NM_001378454.1(ALMS1):c.765-16A>G rs765256601 0.00001
NM_001378454.1(ALMS1):c.765-4T>C rs1671338808 0.00001
NM_001378454.1(ALMS1):c.7692G>C (p.Arg2564=) rs763958360 0.00001
NM_001378454.1(ALMS1):c.7728C>T (p.His2576=) rs779295714 0.00001
NM_001378454.1(ALMS1):c.7743C>T (p.Ser2581=) rs370740871 0.00001
NM_001378454.1(ALMS1):c.7746T>C (p.His2582=) rs1221650688 0.00001
NM_001378454.1(ALMS1):c.7785A>G (p.Pro2595=) rs764864303 0.00001
NM_001378454.1(ALMS1):c.7791A>G (p.Leu2597=) rs45624944 0.00001
NM_001378454.1(ALMS1):c.7803T>C (p.Pro2601=) rs1296333400 0.00001
NM_001378454.1(ALMS1):c.7821T>C (p.Ala2607=) rs1034500469 0.00001
NM_001378454.1(ALMS1):c.7917T>C (p.His2639=) rs1672938733 0.00001
NM_001378454.1(ALMS1):c.7926T>C (p.Val2642=) rs749406009 0.00001
NM_001378454.1(ALMS1):c.7944A>G (p.Leu2648=) rs1407932856 0.00001
NM_001378454.1(ALMS1):c.795A>G (p.Glu265=) rs1232647931 0.00001
NM_001378454.1(ALMS1):c.8019T>C (p.Asp2673=) rs1205311372 0.00001
NM_001378454.1(ALMS1):c.8172A>G (p.Lys2724=) rs1672945488 0.00001
NM_001378454.1(ALMS1):c.8283C>T (p.Pro2761=) rs1458822343 0.00001
NM_001378454.1(ALMS1):c.828T>C (p.Ala276=) rs760408197 0.00001
NM_001378454.1(ALMS1):c.837G>A (p.Gln279=) rs766179893 0.00001
NM_001378454.1(ALMS1):c.8421A>G (p.Gln2807=) rs774574310 0.00001
NM_001378454.1(ALMS1):c.8430A>G (p.Lys2810=) rs1483404753 0.00001
NM_001378454.1(ALMS1):c.8436A>G (p.Leu2812=) rs1672953527 0.00001
NM_001378454.1(ALMS1):c.843T>A (p.Thr281=) rs1221377566 0.00001
NM_001378454.1(ALMS1):c.846A>C (p.Ala282=) rs753487338 0.00001
NM_001378454.1(ALMS1):c.8565A>C (p.Gly2855=) rs775435481 0.00001
NM_001378454.1(ALMS1):c.858A>G (p.Ser286=) rs748158586 0.00001
NM_001378454.1(ALMS1):c.8622A>G (p.Pro2874=) rs748474795 0.00001
NM_001378454.1(ALMS1):c.8625T>C (p.Asp2875=) rs1403743198 0.00001
NM_001378454.1(ALMS1):c.8655A>C (p.Arg2885=) rs377249623 0.00001
NM_001378454.1(ALMS1):c.8655A>G (p.Arg2885=) rs377249623 0.00001
NM_001378454.1(ALMS1):c.8688A>G (p.Ala2896=) rs1338132238 0.00001
NM_001378454.1(ALMS1):c.8691T>C (p.Asp2897=) rs1446635577 0.00001
NM_001378454.1(ALMS1):c.8727A>G (p.Gln2909=) rs1258151977 0.00001
NM_001378454.1(ALMS1):c.87T>C (p.Ala29=) rs748863552 0.00001
NM_001378454.1(ALMS1):c.8856T>C (p.Gly2952=) rs764541883 0.00001
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=) rs777796888 0.00001
NM_001378454.1(ALMS1):c.8907C>T (p.Cys2969=) rs1355984539 0.00001
NM_001378454.1(ALMS1):c.897G>A (p.Pro299=) rs1296000408 0.00001
NM_001378454.1(ALMS1):c.903A>T (p.Ile301=) rs552890246 0.00001
NM_001378454.1(ALMS1):c.9048C>T (p.Phe3016=) rs1464769523 0.00001
NM_001378454.1(ALMS1):c.9063C>T (p.Ser3021=) rs762273689 0.00001
NM_001378454.1(ALMS1):c.9102A>G (p.Ala3034=) rs946963036 0.00001
NM_001378454.1(ALMS1):c.9138T>C (p.Cys3046=) rs779818117 0.00001
NM_001378454.1(ALMS1):c.9171C>T (p.Ser3057=) rs1157529422 0.00001
NM_001378454.1(ALMS1):c.9174G>A (p.Lys3058=) rs773703427 0.00001
NM_001378454.1(ALMS1):c.9318T>G (p.Pro3106=) rs771679163 0.00001
NM_001378454.1(ALMS1):c.9327G>A (p.Gln3109=) rs1366215746 0.00001
NM_001378454.1(ALMS1):c.9375C>T (p.Phe3125=) rs753655534 0.00001
NM_001378454.1(ALMS1):c.9384A>G (p.Val3128=) rs752453102 0.00001
NM_001378454.1(ALMS1):c.93G>C (p.Ala31=) rs13009609 0.00001
NM_001378454.1(ALMS1):c.9480G>A (p.Val3160=) rs752405413 0.00001
NM_001378454.1(ALMS1):c.9539+10dup rs775577830 0.00001
NM_001378454.1(ALMS1):c.9540-5G>A rs755268745 0.00001
NM_001378454.1(ALMS1):c.9612A>C (p.Ile3204=) rs755456619 0.00001
NM_001378454.1(ALMS1):c.9639A>G (p.Leu3213=) rs566943393 0.00001
NM_001378454.1(ALMS1):c.9645A>G (p.Ser3215=) rs1558679135 0.00001
NM_001378454.1(ALMS1):c.9648T>G (p.Ser3216=) rs761650480 0.00001
NM_001378454.1(ALMS1):c.9654T>C (p.Ile3218=) rs772672912 0.00001
NM_001378454.1(ALMS1):c.9672T>C (p.Asp3224=) rs776177155 0.00001
NM_001378454.1(ALMS1):c.9693G>A (p.Glu3231=) rs764518519 0.00001
NM_001378454.1(ALMS1):c.9711A>G (p.Leu3237=) rs374674419 0.00001
NM_001378454.1(ALMS1):c.9726C>G (p.Val3242=) rs776142259 0.00001
NM_001378454.1(ALMS1):c.9729G>A (p.Lys3243=) rs1394836058 0.00001
NM_001378454.1(ALMS1):c.9781+19A>G rs895296631 0.00001
NM_001378454.1(ALMS1):c.9782-13T>G rs530508947 0.00001
NM_001378454.1(ALMS1):c.9782-4T>C rs1313825506 0.00001
NM_001378454.1(ALMS1):c.9834T>C (p.Tyr3278=) rs1573000972 0.00001
NM_001378454.1(ALMS1):c.9852A>G (p.Gln3284=) rs1558684497 0.00001
NM_001378454.1(ALMS1):c.9867G>A (p.Pro3289=) rs773900415 0.00001
NM_001378454.1(ALMS1):c.9885C>T (p.Thr3295=) rs1455531770 0.00001
NM_001378454.1(ALMS1):c.9897C>T (p.Ser3299=) rs1217540541 0.00001
NM_001378454.1(ALMS1):c.9907+14A>G rs1402624178 0.00001
NM_001378454.1(ALMS1):c.9907+17A>C rs772675597 0.00001
NM_001378454.1(ALMS1):c.9907+9C>T rs761440321 0.00001
NM_001378454.1(ALMS1):c.9908-4G>T rs1247899083 0.00001
NM_001378454.1(ALMS1):c.9915T>C (p.Asn3305=) rs776834724 0.00001
NM_001378454.1(ALMS1):c.9987C>T (p.Asn3329=) rs1314404557 0.00001
NM_001378454.1(ALMS1):c.10029T>C (p.Thr3343=) rs780076628
NM_001378454.1(ALMS1):c.10029T>G (p.Thr3343=)
NM_001378454.1(ALMS1):c.10038C>G (p.Ser3346=)
NM_001378454.1(ALMS1):c.10047G>A (p.Val3349=) rs1674405055
NM_001378454.1(ALMS1):c.10050A>G (p.Gly3350=) rs1374824703
NM_001378454.1(ALMS1):c.10056A>G (p.Lys3352=)
NM_001378454.1(ALMS1):c.10078+18G>C rs1485299415
NM_001378454.1(ALMS1):c.10078+18del
NM_001378454.1(ALMS1):c.10078+20A>G
NM_001378454.1(ALMS1):c.10078+7G>A rs2104035384
NM_001378454.1(ALMS1):c.10078+9A>C
NM_001378454.1(ALMS1):c.10079-10_10079-9dup
NM_001378454.1(ALMS1):c.10079-11C>A rs368250605
NM_001378454.1(ALMS1):c.10079-12T>C
NM_001378454.1(ALMS1):c.10079-14T>C
NM_001378454.1(ALMS1):c.10079-15A>T
NM_001378454.1(ALMS1):c.10079-4C>G rs1446726516
NM_001378454.1(ALMS1):c.10079-5del rs2104057739
NM_001378454.1(ALMS1):c.10079-7A>T
NM_001378454.1(ALMS1):c.10083C>T (p.Ala3361=)
NM_001378454.1(ALMS1):c.10089T>C (p.Val3363=) rs2104057828
NM_001378454.1(ALMS1):c.10131A>G (p.Lys3377=)
NM_001378454.1(ALMS1):c.10152A>G (p.Thr3384=)
NM_001378454.1(ALMS1):c.10155G>A (p.Arg3385=)
NM_001378454.1(ALMS1):c.10158A>G (p.Ala3386=)
NM_001378454.1(ALMS1):c.10176G>A (p.Gln3392=) rs1674567633
NM_001378454.1(ALMS1):c.1017T>C (p.Tyr339=) rs915566618
NM_001378454.1(ALMS1):c.10185A>G (p.Glu3395=)
NM_001378454.1(ALMS1):c.10188A>G (p.Lys3396=)
NM_001378454.1(ALMS1):c.10191A>G (p.Glu3397=)
NM_001378454.1(ALMS1):c.10194T>G (p.Ser3398=) rs2104058358
NM_001378454.1(ALMS1):c.10195T>C (p.Leu3399=)
NM_001378454.1(ALMS1):c.10197G>A (p.Leu3399=) rs2104058378
NM_001378454.1(ALMS1):c.10200G>A (p.Gln3400=) rs2104058403
NM_001378454.1(ALMS1):c.1020T>C (p.Asp340=)
NM_001378454.1(ALMS1):c.10213+15T>C
NM_001378454.1(ALMS1):c.10213+17G>T
NM_001378454.1(ALMS1):c.10213+7A>G rs1553416882
NM_001378454.1(ALMS1):c.10214-12dup rs543855806
NM_001378454.1(ALMS1):c.10214-14T>C
NM_001378454.1(ALMS1):c.10214-16A>G
NM_001378454.1(ALMS1):c.10214-20T>G
NM_001378454.1(ALMS1):c.10214-4G>C
NM_001378454.1(ALMS1):c.10214-5C>G
NM_001378454.1(ALMS1):c.10214-6_10214-5delinsGT rs2104063507
NM_001378454.1(ALMS1):c.10236A>C (p.Ala3412=) rs1173455677
NM_001378454.1(ALMS1):c.102G>A (p.Ala34=) rs1574423870
NM_001378454.1(ALMS1):c.102G>C (p.Ala34=) rs1574423870
NM_001378454.1(ALMS1):c.10305A>G (p.Lys3435=)
NM_001378454.1(ALMS1):c.10311G>A (p.Glu3437=)
NM_001378454.1(ALMS1):c.10314C>A (p.Ile3438=)
NM_001378454.1(ALMS1):c.10314C>T (p.Ile3438=)
NM_001378454.1(ALMS1):c.10317T>C (p.His3439=) rs948843150
NM_001378454.1(ALMS1):c.10329A>G (p.Thr3443=)
NM_001378454.1(ALMS1):c.1032A>T (p.Ser344=) rs376519124
NM_001378454.1(ALMS1):c.10332T>C (p.Val3444=)
NM_001378454.1(ALMS1):c.10335C>G (p.Pro3445=)
NM_001378454.1(ALMS1):c.10362A>G (p.Glu3454=) rs762161593
NM_001378454.1(ALMS1):c.10368A>G (p.Leu3456=) rs929142880
NM_001378454.1(ALMS1):c.10384+10T>C
NM_001378454.1(ALMS1):c.10384+13G>C
NM_001378454.1(ALMS1):c.10384+14G>A
NM_001378454.1(ALMS1):c.10384+19G>A
NM_001378454.1(ALMS1):c.10384+9A>G
NM_001378454.1(ALMS1):c.10384+9A>T
NM_001378454.1(ALMS1):c.10385-16T>C rs1396255385
NM_001378454.1(ALMS1):c.10385-17T>C
NM_001378454.1(ALMS1):c.10385-7T>A rs1298945759
NM_001378454.1(ALMS1):c.10385-7T>G rs1298945759
NM_001378454.1(ALMS1):c.10386G>A (p.Glu3462=) rs773637244
NM_001378454.1(ALMS1):c.10404A>G (p.Glu3468=) rs1451268706
NM_001378454.1(ALMS1):c.10413T>C (p.Asn3471=)
NM_001378454.1(ALMS1):c.10416T>C (p.Thr3472=)
NM_001378454.1(ALMS1):c.1041A>C (p.Ser347=) rs1553400737
NM_001378454.1(ALMS1):c.1041A>G (p.Ser347=) rs1553400737
NM_001378454.1(ALMS1):c.1041A>T (p.Ser347=) rs1553400737
NM_001378454.1(ALMS1):c.10425T>G (p.Ser3475=)
NM_001378454.1(ALMS1):c.10461C>A (p.Pro3487=)
NM_001378454.1(ALMS1):c.10464A>C (p.Val3488=) rs28730858
NM_001378454.1(ALMS1):c.10468C>T (p.Leu3490=)
NM_001378454.1(ALMS1):c.10470A>G (p.Leu3490=) rs2104103821
NM_001378454.1(ALMS1):c.1047G>A (p.Lys349=) rs574271805
NM_001378454.1(ALMS1):c.10482A>G (p.Gln3494=) rs2104103900
NM_001378454.1(ALMS1):c.10485T>C (p.Asp3495=) rs776784912
NM_001378454.1(ALMS1):c.10488T>A (p.Ile3496=) rs1438143250
NM_001378454.1(ALMS1):c.1050A>T (p.Thr350=) rs2103715526
NM_001378454.1(ALMS1):c.10539T>C (p.Asp3513=)
NM_001378454.1(ALMS1):c.10554T>C (p.His3518=) rs1005737478
NM_001378454.1(ALMS1):c.10566T>C (p.His3522=) rs778554206
NM_001378454.1(ALMS1):c.10569A>G (p.Arg3523=)
NM_001378454.1(ALMS1):c.10572A>G (p.Glu3524=) rs1335438080
NM_001378454.1(ALMS1):c.10608C>T (p.Asp3536=) rs765108975
NM_001378454.1(ALMS1):c.10620A>G (p.Thr3540=) rs2104104435
NM_001378454.1(ALMS1):c.10629C>G (p.Thr3543=)
NM_001378454.1(ALMS1):c.10632A>G (p.Arg3544=)
NM_001378454.1(ALMS1):c.10641C>T (p.Ser3547=) rs893243465
NM_001378454.1(ALMS1):c.10644C>G (p.Leu3548=) rs1180701508
NM_001378454.1(ALMS1):c.10656G>A (p.Val3552=) rs2104104616
NM_001378454.1(ALMS1):c.1065G>A (p.Gln355=) rs2103715566
NM_001378454.1(ALMS1):c.10660T>C (p.Leu3554=)
NM_001378454.1(ALMS1):c.10665A>C (p.Gly3555=) rs1674958752
NM_001378454.1(ALMS1):c.10677G>A (p.Val3559=)
NM_001378454.1(ALMS1):c.10683T>C (p.Asp3561=) rs1357578376
NM_001378454.1(ALMS1):c.10701T>C (p.Val3567=) rs2104104788
NM_001378454.1(ALMS1):c.10716A>G (p.Lys3572=) rs2104104864
NM_001378454.1(ALMS1):c.1071T>C (p.Pro357=) rs771156823
NM_001378454.1(ALMS1):c.10728A>G (p.Gln3576=)
NM_001378454.1(ALMS1):c.10731T>C (p.Ile3577=) rs1553418487
NM_001378454.1(ALMS1):c.10743A>G (p.Gln3581=)
NM_001378454.1(ALMS1):c.10774A>C (p.Thr3592Pro) rs200467041
NM_001378454.1(ALMS1):c.10776T>G (p.Thr3592=) rs2104105106
NM_001378454.1(ALMS1):c.10788G>A (p.Val3596=) rs45445398
NM_001378454.1(ALMS1):c.10792T>C (p.Leu3598=) rs2104105156
NM_001378454.1(ALMS1):c.10797T>C (p.Asn3599=) rs2104105164
NM_001378454.1(ALMS1):c.10812G>A (p.Lys3604=) rs878948308
NM_001378454.1(ALMS1):c.10815T>C (p.Tyr3605=)
NM_001378454.1(ALMS1):c.10824A>C (p.Arg3608=) rs2104105247
NM_001378454.1(ALMS1):c.10824A>T (p.Arg3608=)
NM_001378454.1(ALMS1):c.10827G>A (p.Gln3609=) rs2104105279
NM_001378454.1(ALMS1):c.10833A>G (p.Gln3611=) rs1273406580
NM_001378454.1(ALMS1):c.10849T>C (p.Leu3617=) rs780187704
NM_001378454.1(ALMS1):c.10860G>A (p.Arg3620=) rs373682259
NM_001378454.1(ALMS1):c.10863A>G (p.Lys3621=)
NM_001378454.1(ALMS1):c.10869G>C (p.Leu3623=) rs775336312
NM_001378454.1(ALMS1):c.10872C>T (p.Ser3624=) rs963421553
NM_001378454.1(ALMS1):c.10873T>C (p.Leu3625=) rs762668289
NM_001378454.1(ALMS1):c.10875G>A (p.Leu3625=)
NM_001378454.1(ALMS1):c.108C>T (p.Asn36=)
NM_001378454.1(ALMS1):c.10914T>C (p.Asn3638=) rs2104105713
NM_001378454.1(ALMS1):c.10923A>C (p.Thr3641=)
NM_001378454.1(ALMS1):c.10923A>G (p.Thr3641=) rs879223990
NM_001378454.1(ALMS1):c.10929T>C (p.Ser3643=) rs1674966983
NM_001378454.1(ALMS1):c.1092A>G (p.Lys364=)
NM_001378454.1(ALMS1):c.10932C>A (p.Leu3644=)
NM_001378454.1(ALMS1):c.10938C>T (p.Val3646=)
NM_001378454.1(ALMS1):c.10950A>G (p.Thr3650=)
NM_001378454.1(ALMS1):c.10953T>C (p.His3651=) rs1482258922
NM_001378454.1(ALMS1):c.10971A>G (p.Glu3657=) rs868321585
NM_001378454.1(ALMS1):c.10986A>G (p.Glu3662=) rs779961618
NM_001378454.1(ALMS1):c.10995T>C (p.Gly3665=)
NM_001378454.1(ALMS1):c.11001A>G (p.Gln3667=)
NM_001378454.1(ALMS1):c.1101T>G (p.Val367=)
NM_001378454.1(ALMS1):c.11025A>G (p.Lys3675=) rs2104106238
NM_001378454.1(ALMS1):c.11031G>A (p.Lys3677=)
NM_001378454.1(ALMS1):c.11034G>A (p.Arg3678=)
NM_001378454.1(ALMS1):c.11070C>A (p.Gly3690=) rs371329585
NM_001378454.1(ALMS1):c.11076T>G (p.Leu3692=) rs2104106428
NM_001378454.1(ALMS1):c.1107T>G (p.Val369=) rs2103715721
NM_001378454.1(ALMS1):c.11091G>T (p.Val3697=)
NM_001378454.1(ALMS1):c.11106A>G (p.Arg3702=)
NM_001378454.1(ALMS1):c.11118T>C (p.Ser3706=) rs2104106588
NM_001378454.1(ALMS1):c.11133T>C (p.Ile3711=) rs1430075527
NM_001378454.1(ALMS1):c.1113T>C (p.Thr371=)
NM_001378454.1(ALMS1):c.11145A>G (p.Lys3715=) rs1573030809
NM_001378454.1(ALMS1):c.11151T>C (p.Asp3717=)
NM_001378454.1(ALMS1):c.11154A>G (p.Lys3718=) rs2104106732
NM_001378454.1(ALMS1):c.11169A>G (p.Lys3723=) rs2104106786
NM_001378454.1(ALMS1):c.11172G>A (p.Gln3724=)
NM_001378454.1(ALMS1):c.11175A>C (p.Pro3725=) rs1289897917
NM_001378454.1(ALMS1):c.11187T>C (p.Tyr3729=) rs2104106849
NM_001378454.1(ALMS1):c.11193C>T (p.Ser3731=) rs374895214
NM_001378454.1(ALMS1):c.111G>T (p.Val37=) rs1394882288
NM_001378454.1(ALMS1):c.11214G>A (p.Arg3738=)
NM_001378454.1(ALMS1):c.11214G>T (p.Arg3738=) rs2104107028
NM_001378454.1(ALMS1):c.11217C>G (p.Pro3739=)
NM_001378454.1(ALMS1):c.11233C>T (p.Leu3745=)
NM_001378454.1(ALMS1):c.11253C>A (p.Thr3751=)
NM_001378454.1(ALMS1):c.11253C>G (p.Thr3751=)
NM_001378454.1(ALMS1):c.11271C>G (p.Thr3757=) rs2104107258
NM_001378454.1(ALMS1):c.11271C>T (p.Thr3757=)
NM_001378454.1(ALMS1):c.11280T>C (p.Thr3760=) rs2104107302
NM_001378454.1(ALMS1):c.1128T>C (p.Thr376=) rs887851505
NM_001378454.1(ALMS1):c.11296T>C (p.Leu3766=)
NM_001378454.1(ALMS1):c.11301C>A (p.Thr3767=) rs2104107409
NM_001378454.1(ALMS1):c.11304A>G (p.Gln3768=)
NM_001378454.1(ALMS1):c.11307A>G (p.Thr3769=)
NM_001378454.1(ALMS1):c.11322T>C (p.Ala3774=) rs2104107524
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.11334G>A (p.Arg3778=) rs1674981904
NM_001378454.1(ALMS1):c.11343T>C (p.Ser3781=)
NM_001378454.1(ALMS1):c.11349C>A (p.Ser3783=) rs2104107710
NM_001378454.1(ALMS1):c.1134A>G (p.Glu378=)
NM_001378454.1(ALMS1):c.11358C>T (p.Asp3786=) rs1429287634
NM_001378454.1(ALMS1):c.11370G>T (p.Leu3790=) rs1389971461
NM_001378454.1(ALMS1):c.11376A>G (p.Gln3792=)
NM_001378454.1(ALMS1):c.11394A>G (p.Arg3798=)
NM_001378454.1(ALMS1):c.11413C>A (p.Arg3805=) rs376091780
NM_001378454.1(ALMS1):c.11422T>C (p.Leu3808=) rs2104108089
NM_001378454.1(ALMS1):c.11460T>A (p.Leu3820=) rs1352073449
NM_001378454.1(ALMS1):c.114C>T (p.Asp38=)
NM_001378454.1(ALMS1):c.11508C>G (p.Pro3836=) rs2104108491
NM_001378454.1(ALMS1):c.11511A>C (p.Leu3837=)
NM_001378454.1(ALMS1):c.11514G>C (p.Val3838=) rs2104108533
NM_001378454.1(ALMS1):c.11517T>C (p.Thr3839=)
NM_001378454.1(ALMS1):c.11541C>T (p.His3847=) rs1490288131
NM_001378454.1(ALMS1):c.11547+12C>A rs755559102
NM_001378454.1(ALMS1):c.11547+12C>T rs755559102
NM_001378454.1(ALMS1):c.11547+15A>G
NM_001378454.1(ALMS1):c.11547+15A>T
NM_001378454.1(ALMS1):c.11547+17_11547+21del rs2104108719
NM_001378454.1(ALMS1):c.11547+18C>A
NM_001378454.1(ALMS1):c.11547+18C>G rs778165277
NM_001378454.1(ALMS1):c.11547+7G>A rs1553418641
NM_001378454.1(ALMS1):c.11548-15C>A
NM_001378454.1(ALMS1):c.11548-19A>G
NM_001378454.1(ALMS1):c.11548-20G>C
NM_001378454.1(ALMS1):c.11556C>T (p.Asn3852=)
NM_001378454.1(ALMS1):c.11559T>C (p.His3853=)
NM_001378454.1(ALMS1):c.1155T>C (p.Ser385=)
NM_001378454.1(ALMS1):c.11586T>G (p.Ser3862=) rs2104188842
NM_001378454.1(ALMS1):c.11589T>C (p.Ser3863=) rs2104188850
NM_001378454.1(ALMS1):c.11595T>C (p.Ser3865=) rs2104188901
NM_001378454.1(ALMS1):c.11610A>C (p.Ser3870=)
NM_001378454.1(ALMS1):c.11628C>T (p.Asn3876=)
NM_001378454.1(ALMS1):c.11634G>A (p.Gln3878=)
NM_001378454.1(ALMS1):c.11668+12A>C
NM_001378454.1(ALMS1):c.11668+13A>G
NM_001378454.1(ALMS1):c.11668+18A>T
NM_001378454.1(ALMS1):c.11669-11C>T
NM_001378454.1(ALMS1):c.11669-11del rs1261279730
NM_001378454.1(ALMS1):c.11669-7C>T rs548573570
NM_001378454.1(ALMS1):c.11673C>T (p.Asn3891=)
NM_001378454.1(ALMS1):c.11676G>A (p.Leu3892=) rs2104193095
NM_001378454.1(ALMS1):c.11679G>A (p.Glu3893=)
NM_001378454.1(ALMS1):c.11706T>C (p.Thr3902=) rs773812568
NM_001378454.1(ALMS1):c.11709A>C (p.Arg3903=) rs2104193292
NM_001378454.1(ALMS1):c.1170T>C (p.Ala390=) rs2103715989
NM_001378454.1(ALMS1):c.11715T>C (p.Val3905=) rs773575203
NM_001378454.1(ALMS1):c.11715T>G (p.Val3905=) rs773575203
NM_001378454.1(ALMS1):c.11724T>C (p.Thr3908=) rs1675661068
NM_001378454.1(ALMS1):c.11730A>G (p.Pro3910=)
NM_001378454.1(ALMS1):c.11733T>A (p.Thr3911=) rs766642540
NM_001378454.1(ALMS1):c.11733T>C (p.Thr3911=) rs766642540
NM_001378454.1(ALMS1):c.11760A>G (p.Glu3920=)
NM_001378454.1(ALMS1):c.11778T>G (p.Thr3926=)
NM_001378454.1(ALMS1):c.11787A>T (p.Ser3929=) rs1675665477
NM_001378454.1(ALMS1):c.11799T>A (p.Arg3933=) rs2104193744
NM_001378454.1(ALMS1):c.1179A>C (p.Ser393=) rs765376715
NM_001378454.1(ALMS1):c.1179A>G (p.Ser393=) rs765376715
NM_001378454.1(ALMS1):c.1179A>T (p.Ser393=) rs765376715
NM_001378454.1(ALMS1):c.117C>T (p.Asp39=) rs2104058310
NM_001378454.1(ALMS1):c.11820C>G (p.Thr3940=) rs565546868
NM_001378454.1(ALMS1):c.11820C>T (p.Thr3940=) rs565546868
NM_001378454.1(ALMS1):c.11823T>C (p.Gly3941=)
NM_001378454.1(ALMS1):c.11835C>T (p.Asp3945=)
NM_001378454.1(ALMS1):c.11850G>A (p.Lys3950=)
NM_001378454.1(ALMS1):c.11853C>T (p.Asn3951=)
NM_001378454.1(ALMS1):c.11865C>T (p.Ser3955=)
NM_001378454.1(ALMS1):c.11872+12A>G rs193922691
NM_001378454.1(ALMS1):c.11872+17A>G
NM_001378454.1(ALMS1):c.11872+9C>G rs768886966
NM_001378454.1(ALMS1):c.11873-10T>A rs1022167078
NM_001378454.1(ALMS1):c.11873-11G>T rs571456553
NM_001378454.1(ALMS1):c.11873-12_11873-11inv
NM_001378454.1(ALMS1):c.11873-18A>G
NM_001378454.1(ALMS1):c.11873-4G>A rs1553421697
NM_001378454.1(ALMS1):c.11877T>C (p.Val3959=) rs538785825
NM_001378454.1(ALMS1):c.11889T>G (p.Val3963=)
NM_001378454.1(ALMS1):c.11901T>C (p.Asn3967=)
NM_001378454.1(ALMS1):c.11910T>C (p.Ser3970=) rs2104195553
NM_001378454.1(ALMS1):c.1191T>C (p.Tyr397=)
NM_001378454.1(ALMS1):c.11934T>C (p.Pro3978=) rs748382663
NM_001378454.1(ALMS1):c.11940T>A (p.Thr3980=) rs1675679219
NM_001378454.1(ALMS1):c.11940T>C (p.Thr3980=) rs1675679219
NM_001378454.1(ALMS1):c.11940T>G (p.Thr3980=) rs1675679219
NM_001378454.1(ALMS1):c.11952C>A (p.Gly3984=)
NM_001378454.1(ALMS1):c.11955C>T (p.Ile3985=) rs2104195791
NM_001378454.1(ALMS1):c.11958C>T (p.Ser3986=) rs1292184685
NM_001378454.1(ALMS1):c.11970A>G (p.Pro3990=)
NM_001378454.1(ALMS1):c.11976C>G (p.Thr3992=)
NM_001378454.1(ALMS1):c.11994G>A (p.Arg3998=) rs28730862
NM_001378454.1(ALMS1):c.12000A>G (p.Pro4000=) rs2104196057
NM_001378454.1(ALMS1):c.12006G>A (p.Arg4002=) rs1573054242
NM_001378454.1(ALMS1):c.1200G>A (p.Gln400=)
NM_001378454.1(ALMS1):c.12031C>T (p.Leu4011=) rs1675682314
NM_001378454.1(ALMS1):c.12042G>A (p.Arg4014=) rs1320090019
NM_001378454.1(ALMS1):c.12045C>A (p.Gly4015=) rs1675682957
NM_001378454.1(ALMS1):c.12045C>T (p.Gly4015=)
NM_001378454.1(ALMS1):c.12048C>T (p.Tyr4016=) rs2104196274
NM_001378454.1(ALMS1):c.12051G>T (p.Leu4017=)
NM_001378454.1(ALMS1):c.12057C>T (p.Gly4019=)
NM_001378454.1(ALMS1):c.12063C>A (p.Gly4021=) rs772994859
NM_001378454.1(ALMS1):c.12084A>G (p.Leu4028=) rs1429155585
NM_001378454.1(ALMS1):c.12087G>A (p.Leu4029=) rs2104196487
NM_001378454.1(ALMS1):c.12089_12090delinsAA (p.Arg4030Lys)
NM_001378454.1(ALMS1):c.1209A>G (p.Ser403=) rs2103716197
NM_001378454.1(ALMS1):c.120A>T (p.Val40=)
NM_001378454.1(ALMS1):c.12105A>C (p.Ala4035=) rs2104196632
NM_001378454.1(ALMS1):c.12108C>T (p.Thr4036=)
NM_001378454.1(ALMS1):c.12111T>G (p.Leu4037=)
NM_001378454.1(ALMS1):c.12114+10C>G
NM_001378454.1(ALMS1):c.12114+10C>T
NM_001378454.1(ALMS1):c.12114+14G>C
NM_001378454.1(ALMS1):c.12114+14G>T rs1057524070
NM_001378454.1(ALMS1):c.12114+17T>C rs1675686732
NM_001378454.1(ALMS1):c.12114+19A>G rs760374917
NM_001378454.1(ALMS1):c.12114+19_12114+23dup
NM_001378454.1(ALMS1):c.12114+20A>G rs1178865207
NM_001378454.1(ALMS1):c.12114+20del
NM_001378454.1(ALMS1):c.12114+5_12114+66dup rs1558711954
NM_001378454.1(ALMS1):c.12115-13T>A
NM_001378454.1(ALMS1):c.12115-15T>C
NM_001378454.1(ALMS1):c.12115-17T>A
NM_001378454.1(ALMS1):c.12115-17_12115-16insCTCTCTCTCTTTT
NM_001378454.1(ALMS1):c.12115-18C>T
NM_001378454.1(ALMS1):c.12115-18_12115-17del rs781270096
NM_001378454.1(ALMS1):c.12115-4T>A rs2104199349
NM_001378454.1(ALMS1):c.12115-4T>G
NM_001378454.1(ALMS1):c.12115-5T>C
NM_001378454.1(ALMS1):c.12115-7C>T rs759139781
NM_001378454.1(ALMS1):c.12115-9T>C
NM_001378454.1(ALMS1):c.12120G>C (p.Ser4040=)
NM_001378454.1(ALMS1):c.12144C>T (p.Phe4048=) rs2104199469
NM_001378454.1(ALMS1):c.12150C>A (p.Ser4050=) rs1553421877
NM_001378454.1(ALMS1):c.12177G>T (p.Leu4059=) rs1573055527
NM_001378454.1(ALMS1):c.12183A>G (p.Leu4061=) rs2104199708
NM_001378454.1(ALMS1):c.12204G>A (p.Leu4068=)
NM_001378454.1(ALMS1):c.12222C>A (p.Thr4074=) rs199638718
NM_001378454.1(ALMS1):c.12225G>A (p.Glu4075=)
NM_001378454.1(ALMS1):c.12234A>C (p.Ala4078=) rs374508659
NM_001378454.1(ALMS1):c.12234A>G (p.Ala4078=) rs374508659
NM_001378454.1(ALMS1):c.12264C>A (p.Gly4088=)
NM_001378454.1(ALMS1):c.1227A>C (p.Thr409=) rs990553333
NM_001378454.1(ALMS1):c.1227A>G (p.Thr409=) rs990553333
NM_001378454.1(ALMS1):c.12285G>T (p.Pro4095=) rs776912137
NM_001378454.1(ALMS1):c.12288G>A (p.Leu4096=) rs1266824471
NM_001378454.1(ALMS1):c.12291C>T (p.Pro4097=) rs1465822932
NM_001378454.1(ALMS1):c.12298+10G>A rs767356429
NM_001378454.1(ALMS1):c.12298+10G>T rs767356429
NM_001378454.1(ALMS1):c.12298+11C>T rs2104200410
NM_001378454.1(ALMS1):c.12298+13del
NM_001378454.1(ALMS1):c.12298+19C>T rs1553421935
NM_001378454.1(ALMS1):c.12298+22del
NM_001378454.1(ALMS1):c.12298+8C>G rs2104200394
NM_001378454.1(ALMS1):c.12298+8C>T
NM_001378454.1(ALMS1):c.12299-11C>G
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.12299-18C>T
NM_001378454.1(ALMS1):c.12299-4C>T
NM_001378454.1(ALMS1):c.12300C>G (p.Val4100=)
NM_001378454.1(ALMS1):c.12303C>T (p.Phe4101=)
NM_001378454.1(ALMS1):c.12306G>C (p.Leu4102=) rs2104202740
NM_001378454.1(ALMS1):c.1230T>C (p.Tyr410=)
NM_001378454.1(ALMS1):c.12318G>A (p.Lys4106=)
NM_001378454.1(ALMS1):c.12324G>A (p.Lys4108=)
NM_001378454.1(ALMS1):c.12339G>A (p.Lys4113=) rs2104202897
NM_001378454.1(ALMS1):c.12362+16C>G rs1553422061
NM_001378454.1(ALMS1):c.12362+20A>T
NM_001378454.1(ALMS1):c.12363-11C>G
NM_001378454.1(ALMS1):c.12363-20T>C
NM_001378454.1(ALMS1):c.12363-5C>G rs774448248
NM_001378454.1(ALMS1):c.12363-6T>G rs1553422641
NM_001378454.1(ALMS1):c.1237+10C>G rs1291450244
NM_001378454.1(ALMS1):c.1237+10C>T
NM_001378454.1(ALMS1):c.1237+14T>C rs1482335275
NM_001378454.1(ALMS1):c.1237+16C>G
NM_001378454.1(ALMS1):c.1237+18T>G
NM_001378454.1(ALMS1):c.1237+9C>T rs201471551
NM_001378454.1(ALMS1):c.1238-12C>G
NM_001378454.1(ALMS1):c.1238-16G>A
NM_001378454.1(ALMS1):c.1238-17T>C
NM_001378454.1(ALMS1):c.1238-4G>A
NM_001378454.1(ALMS1):c.1238-5T>C rs1671380405
NM_001378454.1(ALMS1):c.12387A>G (p.Val4129=)
NM_001378454.1(ALMS1):c.12396G>A (p.Lys4132=)
NM_001378454.1(ALMS1):c.123G>C (p.Val41=)
NM_001378454.1(ALMS1):c.123G>T (p.Val41=)
NM_001378454.1(ALMS1):c.12402A>G (p.Glu4134=) rs1675868945
NM_001378454.1(ALMS1):c.12417A>G (p.Lys4139=) rs377361240
NM_001378454.1(ALMS1):c.12423A>G (p.Glu4141=) rs2104216319
NM_001378454.1(ALMS1):c.1243C>T (p.Leu415=) rs1388334173
NM_001378454.1(ALMS1):c.12441G>A (p.Leu4147=)
NM_001378454.1(ALMS1):c.1245G>T (p.Leu415=) rs1553400953
NM_001378454.1(ALMS1):c.12462+13T>G
NM_001378454.1(ALMS1):c.12462+14C>T rs2104216544
NM_001378454.1(ALMS1):c.12462+18C>T
NM_001378454.1(ALMS1):c.12462+19T>C rs1309452497
NM_001378454.1(ALMS1):c.12462+20A>G
NM_001378454.1(ALMS1):c.12463-10T>C rs754172101
NM_001378454.1(ALMS1):c.12463-11T>A
NM_001378454.1(ALMS1):c.12463-11T>G
NM_001378454.1(ALMS1):c.12463-16T>G
NM_001378454.1(ALMS1):c.12463-20G>A
NM_001378454.1(ALMS1):c.12463-20G>C
NM_001378454.1(ALMS1):c.12463-5T>C rs2104219383
NM_001378454.1(ALMS1):c.12463-7T>C
NM_001378454.1(ALMS1):c.12463-9C>A
NM_001378454.1(ALMS1):c.12463-9C>G rs1553422761
NM_001378454.1(ALMS1):c.12465A>G (p.Arg4155=)
NM_001378454.1(ALMS1):c.12498C>T (p.Pro4166=)
NM_001378454.1(ALMS1):c.1251G>A (p.Gly417=)
NM_001378454.1(ALMS1):c.1266C>T (p.Asp422=) rs1396189205
NM_001378454.1(ALMS1):c.126C>A (p.Val42=) rs766762252
NM_001378454.1(ALMS1):c.126C>G (p.Val42=)
NM_001378454.1(ALMS1):c.1275T>C (p.Thr425=) rs2103720411
NM_001378454.1(ALMS1):c.1276C>T (p.Leu426=) rs2103720416
NM_001378454.1(ALMS1):c.1327C>T (p.Leu443=) rs1671382711
NM_001378454.1(ALMS1):c.1338+11A>G rs1553400967
NM_001378454.1(ALMS1):c.1338+20T>C
NM_001378454.1(ALMS1):c.1338+7C>G
NM_001378454.1(ALMS1):c.1338+8A>G rs2103720635
NM_001378454.1(ALMS1):c.1339-12G>C rs1260375872
NM_001378454.1(ALMS1):c.1339-5A>G rs373469023
NM_001378454.1(ALMS1):c.1339-8C>T rs1553401596
NM_001378454.1(ALMS1):c.1350G>A (p.Glu450=)
NM_001378454.1(ALMS1):c.135G>A (p.Glu45=) rs765418565
NM_001378454.1(ALMS1):c.1365T>C (p.Ser455=)
NM_001378454.1(ALMS1):c.1371T>C (p.Asp457=)
NM_001378454.1(ALMS1):c.1384A>C (p.Arg462=)
NM_001378454.1(ALMS1):c.138G>A (p.Val46=)
NM_001378454.1(ALMS1):c.1392T>C (p.Ser464=)
NM_001378454.1(ALMS1):c.1395T>C (p.Pro465=) rs2103734489
NM_001378454.1(ALMS1):c.1398C>T (p.Asp466=)
NM_001378454.1(ALMS1):c.1401T>C (p.Thr467=) rs772485366
NM_001378454.1(ALMS1):c.1401T>G (p.Thr467=) rs772485366
NM_001378454.1(ALMS1):c.1404G>A (p.Val468=)
NM_001378454.1(ALMS1):c.1432+11A>G rs947794687
NM_001378454.1(ALMS1):c.1432+14G>A rs1204922039
NM_001378454.1(ALMS1):c.1432+14G>C
NM_001378454.1(ALMS1):c.1432+16A>G rs1553401642
NM_001378454.1(ALMS1):c.1432+18A>G
NM_001378454.1(ALMS1):c.1432+19T>C
NM_001378454.1(ALMS1):c.1433-10T>C
NM_001378454.1(ALMS1):c.1433-8_1433-7del rs2103770966
NM_001378454.1(ALMS1):c.1440T>C (p.Thr480=) rs2103771035
NM_001378454.1(ALMS1):c.1455A>T (p.Ile485=)
NM_001378454.1(ALMS1):c.1464T>G (p.Val488=) rs2103771151
NM_001378454.1(ALMS1):c.1473C>G (p.Ser491=) rs2103771196
NM_001378454.1(ALMS1):c.1485A>G (p.Ser495=)
NM_001378454.1(ALMS1):c.1494T>C (p.Thr498=)
NM_001378454.1(ALMS1):c.1497C>T (p.Thr499=) rs2103771265
NM_001378454.1(ALMS1):c.150G>C (p.Ala50=) rs757262099
NM_001378454.1(ALMS1):c.1518T>C (p.Ile506=)
NM_001378454.1(ALMS1):c.1545G>A (p.Glu515=)
NM_001378454.1(ALMS1):c.1548C>T (p.Asp516=) rs202002052
NM_001378454.1(ALMS1):c.1576C>T (p.Leu526=) rs2103170396
NM_001378454.1(ALMS1):c.1584T>C (p.Thr528=) rs2103771543
NM_001378454.1(ALMS1):c.1599C>T (p.His533=) rs2103771566
NM_001378454.1(ALMS1):c.1602T>G (p.Thr534=) rs757654976
NM_001378454.1(ALMS1):c.1623A>G (p.Thr541=) rs893593330
NM_001378454.1(ALMS1):c.1632T>C (p.Asp544=) rs2103771689
NM_001378454.1(ALMS1):c.1641A>C (p.Leu547=) rs1200801072
NM_001378454.1(ALMS1):c.1659A>G (p.Lys553=) rs2103771780
NM_001378454.1(ALMS1):c.165C>T (p.Asp55=)
NM_001378454.1(ALMS1):c.1671T>C (p.Ile557=) rs2103771826
NM_001378454.1(ALMS1):c.1674T>C (p.Pro558=)
NM_001378454.1(ALMS1):c.16C>T (p.Leu6=) rs2104056226
NM_001378454.1(ALMS1):c.1704A>G (p.Pro568=) rs886056300
NM_001378454.1(ALMS1):c.1713C>T (p.Leu571=)
NM_001378454.1(ALMS1):c.1722C>A (p.Ser574=)
NM_001378454.1(ALMS1):c.1725C>T (p.His575=)
NM_001378454.1(ALMS1):c.1737G>A (p.Gly579=) rs1294566237
NM_001378454.1(ALMS1):c.1740G>A (p.Lys580=) rs2103772066
NM_001378454.1(ALMS1):c.1743C>T (p.Pro581=) rs1671847592
NM_001378454.1(ALMS1):c.174T>C (p.Ser58=) rs2104058977
NM_001378454.1(ALMS1):c.1782A>G (p.Leu594=) rs2103772183
NM_001378454.1(ALMS1):c.1785T>C (p.Thr595=)
NM_001378454.1(ALMS1):c.1806A>G (p.Ser602=) rs1671848772
NM_001378454.1(ALMS1):c.1809T>C (p.Ala603=) rs1558647545
NM_001378454.1(ALMS1):c.1812T>C (p.Ala604=) rs2103772267
NM_001378454.1(ALMS1):c.1818A>G (p.Gly606=) rs769637375
NM_001378454.1(ALMS1):c.1821A>T (p.Leu607=) rs1246038121
NM_001378454.1(ALMS1):c.1836T>C (p.Thr612=) rs2103772388
NM_001378454.1(ALMS1):c.1839C>A (p.Gly613=) rs1671849935
NM_001378454.1(ALMS1):c.183G>A (p.Gly61=) rs1670518062
NM_001378454.1(ALMS1):c.183G>T (p.Gly61=) rs1670518062
NM_001378454.1(ALMS1):c.1848T>G (p.Thr616=)
NM_001378454.1(ALMS1):c.186C>T (p.Pro62=) rs1190980857
NM_001378454.1(ALMS1):c.1881G>A (p.Lys627=)
NM_001378454.1(ALMS1):c.1887T>C (p.Gly629=) rs2103772646
NM_001378454.1(ALMS1):c.1902A>G (p.Gln634=)
NM_001378454.1(ALMS1):c.1911A>G (p.Pro637=)
NM_001378454.1(ALMS1):c.1914G>A (p.Glu638=)
NM_001378454.1(ALMS1):c.1917T>C (p.Ser639=)
NM_001378454.1(ALMS1):c.1926C>G (p.Thr642=)
NM_001378454.1(ALMS1):c.1929A>G (p.Glu643=)
NM_001378454.1(ALMS1):c.193C>T (p.Leu65=) rs1670518826
NM_001378454.1(ALMS1):c.1941A>G (p.Glu647=)
NM_001378454.1(ALMS1):c.1944T>G (p.Val648=)
NM_001378454.1(ALMS1):c.1953T>C (p.Ala651=)
NM_001378454.1(ALMS1):c.1956T>C (p.Pro652=)
NM_001378454.1(ALMS1):c.1986T>G (p.Pro662=)
NM_001378454.1(ALMS1):c.1989A>G (p.Thr663=) rs1671853387
NM_001378454.1(ALMS1):c.1992A>G (p.Val664=) rs894774935
NM_001378454.1(ALMS1):c.1998T>C (p.Ser666=) rs1671853720
NM_001378454.1(ALMS1):c.2010A>T (p.Ser670=)
NM_001378454.1(ALMS1):c.201T>C (p.Ser67=)
NM_001378454.1(ALMS1):c.2028C>T (p.Leu676=)
NM_001378454.1(ALMS1):c.2034C>T (p.Phe678=) rs2103773253
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly) rs115444326
NM_001378454.1(ALMS1):c.2040A>C (p.Arg680=) rs1671855079
NM_001378454.1(ALMS1):c.2046C>G (p.Thr682=) rs549883815
NM_001378454.1(ALMS1):c.2046C>T (p.Thr682=)
NM_001378454.1(ALMS1):c.2058T>G (p.Gly686=)
NM_001378454.1(ALMS1):c.2064A>G (p.Leu688=) rs2103773421
NM_001378454.1(ALMS1):c.2067T>C (p.Thr689=) rs2103773444
NM_001378454.1(ALMS1):c.2076T>C (p.Ala692=) rs2103773481
NM_001378454.1(ALMS1):c.2079G>A (p.Leu693=)
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=) rs2103773586
NM_001378454.1(ALMS1):c.2106T>A (p.Ala702=) rs1558647749
NM_001378454.1(ALMS1):c.2106T>C (p.Ala702=)
NM_001378454.1(ALMS1):c.210C>T (p.Asp70=)
NM_001378454.1(ALMS1):c.213G>A (p.Glu71=)
NM_001378454.1(ALMS1):c.2142T>C (p.Thr714=)
NM_001378454.1(ALMS1):c.2145C>T (p.Pro715=) rs2103773848
NM_001378454.1(ALMS1):c.2148C>T (p.His716=)
NM_001378454.1(ALMS1):c.2151A>G (p.Ser717=) rs2103773885
NM_001378454.1(ALMS1):c.2154T>C (p.His718=)
NM_001378454.1(ALMS1):c.2157A>G (p.Arg719=) rs2103773939
NM_001378454.1(ALMS1):c.2163G>A (p.Lys721=) rs751753739
NM_001378454.1(ALMS1):c.2169T>C (p.Gly723=)
NM_001378454.1(ALMS1):c.216G>A (p.Glu72=)
NM_001378454.1(ALMS1):c.2181A>G (p.Gln727=)
NM_001378454.1(ALMS1):c.2193A>G (p.Ala731=)
NM_001378454.1(ALMS1):c.21A>C (p.Pro7=) rs373614102
NM_001378454.1(ALMS1):c.21A>G (p.Pro7=) rs373614102
NM_001378454.1(ALMS1):c.2205A>G (p.Gln735=)
NM_001378454.1(ALMS1):c.2217T>C (p.Thr739=)
NM_001378454.1(ALMS1):c.2217T>G (p.Thr739=) rs2103774244
NM_001378454.1(ALMS1):c.2223T>C (p.Thr741=) rs2103774306
NM_001378454.1(ALMS1):c.2253C>T (p.Asp751=)
NM_001378454.1(ALMS1):c.2277A>G (p.Val759=)
NM_001378454.1(ALMS1):c.2289T>G (p.Ser763=) rs2103774625
NM_001378454.1(ALMS1):c.228C>T (p.Ala76=) rs755847221
NM_001378454.1(ALMS1):c.2292C>T (p.Tyr764=) rs774724720
NM_001378454.1(ALMS1):c.231G>A (p.Lys77=) rs2104059606
NM_001378454.1(ALMS1):c.2325A>G (p.Pro775=)
NM_001378454.1(ALMS1):c.2328G>A (p.Gln776=)
NM_001378454.1(ALMS1):c.2337A>G (p.Ala779=) rs1355065934
NM_001378454.1(ALMS1):c.2349A>G (p.Leu783=) rs1246528078
NM_001378454.1(ALMS1):c.2349A>T (p.Leu783=) rs1246528078
NM_001378454.1(ALMS1):c.234C>G (p.Ala78=) rs368947491
NM_001378454.1(ALMS1):c.2352T>G (p.Pro784=)
NM_001378454.1(ALMS1):c.2364G>T (p.Leu788=)
NM_001378454.1(ALMS1):c.2382T>C (p.Ala794=) rs1671866816
NM_001378454.1(ALMS1):c.2403T>C (p.Thr801=)
NM_001378454.1(ALMS1):c.2412A>G (p.Pro804=) rs2103775022
NM_001378454.1(ALMS1):c.2415A>T (p.Thr805=)
NM_001378454.1(ALMS1):c.2421C>G (p.Pro807=)
NM_001378454.1(ALMS1):c.2430A>G (p.Ala810=) rs2103775086
NM_001378454.1(ALMS1):c.2433C>T (p.Tyr811=) rs2103775106
NM_001378454.1(ALMS1):c.2436A>G (p.Ser812=) rs925267503
NM_001378454.1(ALMS1):c.2493C>G (p.Pro831=)
NM_001378454.1(ALMS1):c.2535C>G (p.Asp845Glu) rs77517267
NM_001378454.1(ALMS1):c.2553A>C (p.Pro851=) rs2103775668
NM_001378454.1(ALMS1):c.255C>G (p.Gly85=)
NM_001378454.1(ALMS1):c.2562C>G (p.Thr854=) rs1224727067
NM_001378454.1(ALMS1):c.2577G>C (p.Ala859=) rs547563359
NM_001378454.1(ALMS1):c.2580C>T (p.Ser860=) rs933460222
NM_001378454.1(ALMS1):c.2586A>G (p.Ser862=) rs761544791
NM_001378454.1(ALMS1):c.2592A>G (p.Gly864=) rs1553403535
NM_001378454.1(ALMS1):c.2604T>C (p.Ser868=) rs2103775854
NM_001378454.1(ALMS1):c.2616G>A (p.Gln872=)
NM_001378454.1(ALMS1):c.2622C>T (p.Thr874=)
NM_001378454.1(ALMS1):c.2637T>C (p.His879=) rs1671873372
NM_001378454.1(ALMS1):c.2646A>G (p.Glu882=)
NM_001378454.1(ALMS1):c.2673T>C (p.Pro891=) rs2103776078
NM_001378454.1(ALMS1):c.2676A>C (p.Gly892=) rs745887923
NM_001378454.1(ALMS1):c.2679A>G (p.Pro893=) rs17848881
NM_001378454.1(ALMS1):c.2688G>A (p.Gln896=) rs2103776152
NM_001378454.1(ALMS1):c.2697G>T (p.Gly899=) rs2103776182
NM_001378454.1(ALMS1):c.2718T>C (p.Ser906=) rs2103776260
NM_001378454.1(ALMS1):c.2721C>T (p.Phe907=) rs2103776271
NM_001378454.1(ALMS1):c.2736G>A (p.Glu912=) rs2103776351
NM_001378454.1(ALMS1):c.2739G>A (p.Lys913=) rs373378385
NM_001378454.1(ALMS1):c.273G>C (p.Leu91=)
NM_001378454.1(ALMS1):c.2751T>C (p.Phe917=) rs2103776411
NM_001378454.1(ALMS1):c.2754C>T (p.Ser918=)
NM_001378454.1(ALMS1):c.2772C>T (p.Asp924=)
NM_001378454.1(ALMS1):c.279C>A (p.Pro93=)
NM_001378454.1(ALMS1):c.279C>G (p.Pro93=) rs770203539
NM_001378454.1(ALMS1):c.27G>A (p.Pro9=)
NM_001378454.1(ALMS1):c.282G>A (p.Pro94=) rs764095354
NM_001378454.1(ALMS1):c.2844A>G (p.Pro948=) rs2103776713
NM_001378454.1(ALMS1):c.2847A>G (p.Thr949=) rs773581447
NM_001378454.1(ALMS1):c.2850G>T (p.Val950=) rs551541932
NM_001378454.1(ALMS1):c.2853C>T (p.Ser951=)
NM_001378454.1(ALMS1):c.2871T>C (p.His957=)
NM_001378454.1(ALMS1):c.2880A>G (p.Lys960=) rs1238528749
NM_001378454.1(ALMS1):c.288C>T (p.His96=)
NM_001378454.1(ALMS1):c.2898G>A (p.Gln966=) rs2103776938
NM_001378454.1(ALMS1):c.2922A>G (p.Leu974=) rs199769789
NM_001378454.1(ALMS1):c.2925T>C (p.Pro975=) rs751486678
NM_001378454.1(ALMS1):c.2934T>C (p.Ser978=)
NM_001378454.1(ALMS1):c.2935C>T (p.Leu979=) rs2103777030
NM_001378454.1(ALMS1):c.2949T>C (p.Ala983=) rs1229095266
NM_001378454.1(ALMS1):c.2952T>C (p.Ile984=)
NM_001378454.1(ALMS1):c.2955T>C (p.Pro985=) rs2103777079
NM_001378454.1(ALMS1):c.2958A>T (p.Gly986=)
NM_001378454.1(ALMS1):c.2973G>A (p.Lys991=) rs1444578140
NM_001378454.1(ALMS1):c.2976T>C (p.Thr992=)
NM_001378454.1(ALMS1):c.2979C>T (p.Val993=) rs1242113819
NM_001378454.1(ALMS1):c.2985A>C (p.Thr995=) rs2103777181
NM_001378454.1(ALMS1):c.3042A>G (p.Gln1014=)
NM_001378454.1(ALMS1):c.3045G>A (p.Gln1015=) rs2103777429
NM_001378454.1(ALMS1):c.3057T>C (p.Asp1019=) rs1671883693
NM_001378454.1(ALMS1):c.3063T>C (p.Tyr1021=)
NM_001378454.1(ALMS1):c.3079C>T (p.Leu1027=)
NM_001378454.1(ALMS1):c.3096C>T (p.Gly1032=)
NM_001378454.1(ALMS1):c.30C>A (p.Gly10=)
NM_001378454.1(ALMS1):c.30C>T (p.Gly10=) rs1402244580
NM_001378454.1(ALMS1):c.3102A>T (p.Gly1034=) rs2103777616
NM_001378454.1(ALMS1):c.3108T>A (p.Ala1036=) rs2103777636
NM_001378454.1(ALMS1):c.3111C>T (p.Asp1037=) rs1671884843
NM_001378454.1(ALMS1):c.3129A>G (p.Pro1043=)
NM_001378454.1(ALMS1):c.312C>T (p.Thr104=)
NM_001378454.1(ALMS1):c.3138G>A (p.Gln1046=) rs2103777774
NM_001378454.1(ALMS1):c.3141T>C (p.Ser1047=) rs2103777780
NM_001378454.1(ALMS1):c.3150C>T (p.Tyr1050=)
NM_001378454.1(ALMS1):c.3162G>A (p.Glu1054=)
NM_001378454.1(ALMS1):c.3168T>A (p.Pro1056=) rs1180428746
NM_001378454.1(ALMS1):c.3175T>C (p.Leu1059=)
NM_001378454.1(ALMS1):c.3177G>A (p.Leu1059=) rs766133181
NM_001378454.1(ALMS1):c.3207A>G (p.Leu1069=)
NM_001378454.1(ALMS1):c.3207A>T (p.Leu1069=) rs2103778010
NM_001378454.1(ALMS1):c.3210T>C (p.Pro1070=) rs2103778016
NM_001378454.1(ALMS1):c.3234C>A (p.Ala1078=) rs771305195
NM_001378454.1(ALMS1):c.3237C>T (p.Phe1079=)
NM_001378454.1(ALMS1):c.324+11C>A
NM_001378454.1(ALMS1):c.324+11_324+33dup
NM_001378454.1(ALMS1):c.324+12C>G
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>A
NM_001378454.1(ALMS1):c.324+16G>T rs1276086207
NM_001378454.1(ALMS1):c.324+18G>A rs1553396316
NM_001378454.1(ALMS1):c.324+20G>A
NM_001378454.1(ALMS1):c.324+7C>G rs1230102179
NM_001378454.1(ALMS1):c.324+7C>T
NM_001378454.1(ALMS1):c.324+8G>C
NM_001378454.1(ALMS1):c.3240T>C (p.Pro1080=) rs1459135087
NM_001378454.1(ALMS1):c.325-14C>G
NM_001378454.1(ALMS1):c.325-17C>T
NM_001378454.1(ALMS1):c.325-18C>T
NM_001378454.1(ALMS1):c.325-8A>C rs200740825
NM_001378454.1(ALMS1):c.3270A>G (p.Pro1090=) rs2103778240
NM_001378454.1(ALMS1):c.3281C>T (p.Ser1094Phe)
NM_001378454.1(ALMS1):c.3282T>C (p.Ser1094=)
NM_001378454.1(ALMS1):c.3297A>G (p.Gln1099=)
NM_001378454.1(ALMS1):c.3312T>A (p.Gly1104=) rs2103778429
NM_001378454.1(ALMS1):c.3312T>C (p.Gly1104=)
NM_001378454.1(ALMS1):c.3318C>T (p.Phe1106=) rs1044966122
NM_001378454.1(ALMS1):c.3330C>T (p.Thr1110=) rs749570443
NM_001378454.1(ALMS1):c.3346C>T (p.Leu1116=)
NM_001378454.1(ALMS1):c.3360T>C (p.Ala1120=)
NM_001378454.1(ALMS1):c.3361C>T (p.Leu1121=)
NM_001378454.1(ALMS1):c.336G>A (p.Leu112=) rs2103675446
NM_001378454.1(ALMS1):c.3372A>G (p.Ser1124=) rs2103778635
NM_001378454.1(ALMS1):c.3390A>G (p.Ala1130=)
NM_001378454.1(ALMS1):c.339C>T (p.Thr113=) rs2103675459
NM_001378454.1(ALMS1):c.33G>A (p.Glu11=) rs1217067369
NM_001378454.1(ALMS1):c.3405C>G (p.Gly1135=) rs1671892631
NM_001378454.1(ALMS1):c.3414T>C (p.Thr1138=) rs2103778870
NM_001378454.1(ALMS1):c.3429C>T (p.Ser1143=)
NM_001378454.1(ALMS1):c.342T>C (p.Cys114=)
NM_001378454.1(ALMS1):c.3441T>C (p.His1147=)
NM_001378454.1(ALMS1):c.3444A>G (p.Arg1148=)
NM_001378454.1(ALMS1):c.3453C>A (p.Pro1151=)
NM_001378454.1(ALMS1):c.3456C>T (p.Ser1152=) rs2103779021
NM_001378454.1(ALMS1):c.345T>C (p.His115=) rs1572904510
NM_001378454.1(ALMS1):c.3474C>T (p.Ala1158=)
NM_001378454.1(ALMS1):c.348A>G (p.Val116=) rs1433156767
NM_001378454.1(ALMS1):c.3498A>G (p.Glu1166=)
NM_001378454.1(ALMS1):c.3501G>A (p.Glu1167=) rs1671897364
NM_001378454.1(ALMS1):c.3507G>A (p.Gln1169=) rs1671897487
NM_001378454.1(ALMS1):c.3510A>G (p.Lys1170=)
NM_001378454.1(ALMS1):c.3516A>G (p.Ser1172=) rs2103779222
NM_001378454.1(ALMS1):c.3525T>C (p.Thr1175=) rs2103779262
NM_001378454.1(ALMS1):c.3528A>G (p.Gly1176=) rs754195469
NM_001378454.1(ALMS1):c.3531A>G (p.Pro1177=) rs2103779290
NM_001378454.1(ALMS1):c.3534T>A (p.Gly1178=)
NM_001378454.1(ALMS1):c.3555A>C (p.Pro1185=) rs2103779398
NM_001378454.1(ALMS1):c.3573C>T (p.Phe1191=)
NM_001378454.1(ALMS1):c.357G>A (p.Gln119=) rs2103675566
NM_001378454.1(ALMS1):c.3600T>C (p.Ile1200=)
NM_001378454.1(ALMS1):c.3615C>T (p.Thr1205=)
NM_001378454.1(ALMS1):c.3618G>A (p.Leu1206=) rs755365899
NM_001378454.1(ALMS1):c.3621A>C (p.Pro1207=)
NM_001378454.1(ALMS1):c.3654T>A (p.Val1218=) rs1400230315
NM_001378454.1(ALMS1):c.3675T>C (p.Ala1225=) rs1671901472
NM_001378454.1(ALMS1):c.3699T>A (p.Thr1233=) rs1425724214
NM_001378454.1(ALMS1):c.3705C>G (p.Thr1235=) rs2103779892
NM_001378454.1(ALMS1):c.3723C>T (p.His1241=) rs2103779956
NM_001378454.1(ALMS1):c.3726A>G (p.Thr1242=)
NM_001378454.1(ALMS1):c.3738T>C (p.Gly1246=)
NM_001378454.1(ALMS1):c.3759G>A (p.Leu1253=)
NM_001378454.1(ALMS1):c.375T>C (p.Asn125=)
NM_001378454.1(ALMS1):c.3774A>G (p.Pro1258=)
NM_001378454.1(ALMS1):c.3780A>G (p.Glu1260=)
NM_001378454.1(ALMS1):c.3786T>A (p.Ala1262=)
NM_001378454.1(ALMS1):c.378T>C (p.Ser126=) rs1381438379
NM_001378454.1(ALMS1):c.3810A>G (p.Glu1270=)
NM_001378454.1(ALMS1):c.3822G>A (p.Gln1274=) rs2103780287
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.3840T>G (p.Ala1280=)
NM_001378454.1(ALMS1):c.3852T>C (p.Thr1284=) rs1671906603
NM_001378454.1(ALMS1):c.3855C>T (p.Ser1285=) rs1419621960
NM_001378454.1(ALMS1):c.3858C>T (p.Tyr1286=)
NM_001378454.1(ALMS1):c.3864A>G (p.Gln1288=)
NM_001378454.1(ALMS1):c.3888C>T (p.Phe1296=)
NM_001378454.1(ALMS1):c.3897G>A (p.Gln1299=) rs745335322
NM_001378454.1(ALMS1):c.3900G>T (p.Ser1300=) rs1480882041
NM_001378454.1(ALMS1):c.3903G>A (p.Leu1301=) rs1572934606
NM_001378454.1(ALMS1):c.3918A>G (p.Leu1306=) rs2103780690
NM_001378454.1(ALMS1):c.3948T>G (p.Val1316=) rs1338636347
NM_001378454.1(ALMS1):c.3951T>G (p.Pro1317=)
NM_001378454.1(ALMS1):c.3957A>C (p.Pro1319=) rs2103780813
NM_001378454.1(ALMS1):c.3960T>C (p.Ala1320=) rs1279158289
NM_001378454.1(ALMS1):c.3978A>T (p.Ile1326=)
NM_001378454.1(ALMS1):c.399T>C (p.Thr133=)
NM_001378454.1(ALMS1):c.4008C>T (p.His1336=) rs1572934743
NM_001378454.1(ALMS1):c.4017G>A (p.Lys1339=)
NM_001378454.1(ALMS1):c.4020T>C (p.Pro1340=) rs1175672394
NM_001378454.1(ALMS1):c.4035A>G (p.Gln1345=)
NM_001378454.1(ALMS1):c.4044G>A (p.Leu1348=) rs2103781109
NM_001378454.1(ALMS1):c.4053T>C (p.Ser1351=) rs1671912203
NM_001378454.1(ALMS1):c.4059A>G (p.Pro1353=) rs2103781195
NM_001378454.1(ALMS1):c.405G>C (p.Val135=) rs1485864480
NM_001378454.1(ALMS1):c.4071T>C (p.Ala1357=) rs1572934855
NM_001378454.1(ALMS1):c.4071T>G (p.Ala1357=) rs1572934855
NM_001378454.1(ALMS1):c.4077A>G (p.Lys1359=) rs2103781279
NM_001378454.1(ALMS1):c.4083A>G (p.Ser1361=)
NM_001378454.1(ALMS1):c.408C>T (p.Val136=)
NM_001378454.1(ALMS1):c.4107G>A (p.Gln1369=)
NM_001378454.1(ALMS1):c.4110A>G (p.Thr1370=) rs1379058502
NM_001378454.1(ALMS1):c.4128A>T (p.Val1376=)
NM_001378454.1(ALMS1):c.4131C>G (p.Thr1377=) rs759705921
NM_001378454.1(ALMS1):c.4146A>C (p.Ser1382=)
NM_001378454.1(ALMS1):c.4155A>G (p.Thr1385=)
NM_001378454.1(ALMS1):c.4164G>A (p.Pro1388=)
NM_001378454.1(ALMS1):c.4164G>C (p.Pro1388=) rs1215068896
NM_001378454.1(ALMS1):c.4164G>T (p.Pro1388=) rs1215068896
NM_001378454.1(ALMS1):c.4167T>C (p.Ser1389=) rs2103781665
NM_001378454.1(ALMS1):c.4182G>A (p.Gln1394=) rs2103781742
NM_001378454.1(ALMS1):c.4185G>A (p.Ser1395=) rs758814503
NM_001378454.1(ALMS1):c.4185G>T (p.Ser1395=) rs758814503
NM_001378454.1(ALMS1):c.4188G>A (p.Leu1396=)
NM_001378454.1(ALMS1):c.4200T>C (p.His1400=)
NM_001378454.1(ALMS1):c.4203A>G (p.Leu1401=) rs2103781830
NM_001378454.1(ALMS1):c.4203A>T (p.Leu1401=) rs2103781830
NM_001378454.1(ALMS1):c.4212G>A (p.Glu1404=) rs2103781869
NM_001378454.1(ALMS1):c.4224T>C (p.Val1408=)
NM_001378454.1(ALMS1):c.4227A>G (p.Ser1409=)
NM_001378454.1(ALMS1):c.4242A>G (p.Pro1414=)
NM_001378454.1(ALMS1):c.4257T>C (p.Thr1419=)
NM_001378454.1(ALMS1):c.4260G>A (p.Gly1420=) rs1302057894
NM_001378454.1(ALMS1):c.4275C>T (p.Pro1425=) rs775642753
NM_001378454.1(ALMS1):c.4281T>G (p.Thr1427=)
NM_001378454.1(ALMS1):c.4287C>T (p.Tyr1429=) rs2103782170
NM_001378454.1(ALMS1):c.4293C>T (p.His1431=)
NM_001378454.1(ALMS1):c.429G>A (p.Gln143=)
NM_001378454.1(ALMS1):c.42G>A (p.Glu14=)
NM_001378454.1(ALMS1):c.4305T>C (p.Pro1435=)
NM_001378454.1(ALMS1):c.4305T>G (p.Pro1435=)
NM_001378454.1(ALMS1):c.4320A>G (p.Gln1440=)
NM_001378454.1(ALMS1):c.4326C>G (p.Val1442=) rs2103782316
NM_001378454.1(ALMS1):c.4329G>A (p.Leu1443=)
NM_001378454.1(ALMS1):c.432G>C (p.Arg144=)
NM_001378454.1(ALMS1):c.4335T>C (p.His1445=) rs1671921734
NM_001378454.1(ALMS1):c.4342C>T (p.Leu1448=) rs2103782408
NM_001378454.1(ALMS1):c.4347T>C (p.Pro1449=) rs2103782437
NM_001378454.1(ALMS1):c.4357T>C (p.Leu1453=) rs879109152
NM_001378454.1(ALMS1):c.4383A>G (p.Pro1461=) rs2103782553
NM_001378454.1(ALMS1):c.4395G>A (p.Thr1465=) rs530399810
NM_001378454.1(ALMS1):c.4407A>G (p.Pro1469=) rs2103782683
NM_001378454.1(ALMS1):c.4413A>G (p.Val1471=) rs2103782733
NM_001378454.1(ALMS1):c.4419C>T (p.Ser1473=) rs1237859208
NM_001378454.1(ALMS1):c.441G>T (p.Gly147=) rs2103675916
NM_001378454.1(ALMS1):c.4425C>T (p.Ser1475=)
NM_001378454.1(ALMS1):c.4428C>T (p.Ser1476=) rs2103782815
NM_001378454.1(ALMS1):c.4437A>G (p.Gly1479=) rs2103782849
NM_001378454.1(ALMS1):c.444T>C (p.Asp148=) rs2103675943
NM_001378454.1(ALMS1):c.4458C>T (p.Tyr1486=) rs2103782920
NM_001378454.1(ALMS1):c.4482T>C (p.His1494=)
NM_001378454.1(ALMS1):c.4488T>C (p.Pro1496=)
NM_001378454.1(ALMS1):c.450+10C>T
NM_001378454.1(ALMS1):c.450+11T>G rs763724672
NM_001378454.1(ALMS1):c.450+12G>A rs1553398856
NM_001378454.1(ALMS1):c.450+22_450+25del rs764559198
NM_001378454.1(ALMS1):c.450+7C>G
NM_001378454.1(ALMS1):c.450+7C>T
NM_001378454.1(ALMS1):c.4509A>T (p.Ser1503=) rs2103783053
NM_001378454.1(ALMS1):c.451-10A>C
NM_001378454.1(ALMS1):c.451-12A>T
NM_001378454.1(ALMS1):c.451-14dup
NM_001378454.1(ALMS1):c.451-17C>T
NM_001378454.1(ALMS1):c.451-5T>C rs774098604
NM_001378454.1(ALMS1):c.4515T>C (p.Ala1505=) rs941586130
NM_001378454.1(ALMS1):c.4527T>C (p.Val1509=) rs2103783089
NM_001378454.1(ALMS1):c.4542C>G (p.Gly1514=)
NM_001378454.1(ALMS1):c.4542C>T (p.Gly1514=) rs763511170
NM_001378454.1(ALMS1):c.4545A>G (p.Ala1515=) rs1248066457
NM_001378454.1(ALMS1):c.4551T>C (p.Thr1517=)
NM_001378454.1(ALMS1):c.4557C>T (p.Thr1519=)
NM_001378454.1(ALMS1):c.4566C>T (p.Ser1522=) rs2103783250
NM_001378454.1(ALMS1):c.4587G>A (p.Lys1529=) rs768094497
NM_001378454.1(ALMS1):c.4593C>G (p.Gly1531=)
NM_001378454.1(ALMS1):c.4602C>T (p.Tyr1534=) rs1671928123
NM_001378454.1(ALMS1):c.4626A>G (p.Gln1542=) rs201603580
NM_001378454.1(ALMS1):c.462T>C (p.Ser154=) rs1671236853
NM_001378454.1(ALMS1):c.4638G>A (p.Glu1546=) rs2103783427
NM_001378454.1(ALMS1):c.4641T>A (p.Ala1547=)
NM_001378454.1(ALMS1):c.4644C>T (p.Leu1548=)
NM_001378454.1(ALMS1):c.4647A>G (p.Arg1549=) rs564445910
NM_001378454.1(ALMS1):c.4659T>G (p.Ala1553=) rs1191872718
NM_001378454.1(ALMS1):c.4668A>G (p.Pro1556=)
NM_001378454.1(ALMS1):c.4683T>A (p.Thr1561=) rs2103783628
NM_001378454.1(ALMS1):c.468T>C (p.His156=)
NM_001378454.1(ALMS1):c.4695C>G (p.Thr1565=) rs2103783674
NM_001378454.1(ALMS1):c.4701C>T (p.Thr1567=) rs1301217256
NM_001378454.1(ALMS1):c.4713C>T (p.Tyr1571=) rs2103783750
NM_001378454.1(ALMS1):c.4731G>T (p.Pro1577=) rs747216050
NM_001378454.1(ALMS1):c.4749G>A (p.Gln1583=) rs749067384
NM_001378454.1(ALMS1):c.4755T>C (p.Phe1585=)
NM_001378454.1(ALMS1):c.4770A>T (p.Leu1590=) rs772781647
NM_001378454.1(ALMS1):c.4779G>A (p.Glu1593=)
NM_001378454.1(ALMS1):c.477T>A (p.Pro159=) rs2103701270
NM_001378454.1(ALMS1):c.4809T>C (p.Pro1603=) rs2103784041
NM_001378454.1(ALMS1):c.4812T>G (p.Thr1604=)
NM_001378454.1(ALMS1):c.4815A>G (p.Glu1605=) rs1671934084
NM_001378454.1(ALMS1):c.4833A>C (p.Pro1611=)
NM_001378454.1(ALMS1):c.4836A>G (p.Ala1612=)
NM_001378454.1(ALMS1):c.4848T>C (p.Gly1616=)
NM_001378454.1(ALMS1):c.4860T>C (p.Leu1620=) rs1307202712
NM_001378454.1(ALMS1):c.4860T>G (p.Leu1620=) rs1307202712
NM_001378454.1(ALMS1):c.4869G>A (p.Lys1623=) rs2103784240
NM_001378454.1(ALMS1):c.4878T>A (p.Thr1626=) rs2103784269
NM_001378454.1(ALMS1):c.4881C>T (p.Phe1627=) rs983255370
NM_001378454.1(ALMS1):c.4884C>T (p.Tyr1628=)
NM_001378454.1(ALMS1):c.4887G>T (p.Arg1629=)
NM_001378454.1(ALMS1):c.4893T>C (p.Ala1631=) rs2103784349
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.4905T>C (p.Ser1635=) rs2103784392
NM_001378454.1(ALMS1):c.4909C>T (p.Leu1637=)
NM_001378454.1(ALMS1):c.4920G>A (p.Glu1640=) rs1572935943
NM_001378454.1(ALMS1):c.4929A>G (p.Lys1643=) rs1671937732
NM_001378454.1(ALMS1):c.492T>C (p.Ser164=) rs1671237785
NM_001378454.1(ALMS1):c.4941T>C (p.Ala1647=)
NM_001378454.1(ALMS1):c.4944T>C (p.Pro1648=)
NM_001378454.1(ALMS1):c.495C>T (p.Ser165=) rs2103701334
NM_001378454.1(ALMS1):c.4971A>G (p.Thr1657=) rs780637359
NM_001378454.1(ALMS1):c.4980A>G (p.Val1660=) rs2103784707
NM_001378454.1(ALMS1):c.4989T>C (p.Thr1663=) rs774538998
NM_001378454.1(ALMS1):c.5004G>A (p.Arg1668=) rs1432669722
NM_001378454.1(ALMS1):c.5007G>A (p.Gly1669=) rs2103784845
NM_001378454.1(ALMS1):c.5016C>A (p.Val1672=) rs2103784862
NM_001378454.1(ALMS1):c.501C>T (p.Thr167=)
NM_001378454.1(ALMS1):c.5025C>T (p.Tyr1675=) rs2103784887
NM_001378454.1(ALMS1):c.5034C>A (p.Thr1678=)
NM_001378454.1(ALMS1):c.5034C>T (p.Thr1678=)
NM_001378454.1(ALMS1):c.5035C>T (p.Leu1679=) rs760829019
NM_001378454.1(ALMS1):c.5058A>G (p.Glu1686=) rs2103784966
NM_001378454.1(ALMS1):c.507T>C (p.Asp169=)
NM_001378454.1(ALMS1):c.5088A>C (p.Gly1696=) rs2103785042
NM_001378454.1(ALMS1):c.5097C>G (p.Ala1699=) rs1671942002
NM_001378454.1(ALMS1):c.510A>C (p.Thr170=) rs2103701377
NM_001378454.1(ALMS1):c.5115A>G (p.Pro1705=) rs2103785134
NM_001378454.1(ALMS1):c.5127T>C (p.Ser1709=)
NM_001378454.1(ALMS1):c.5133A>G (p.Leu1711=) rs2103785199
NM_001378454.1(ALMS1):c.5136C>T (p.Tyr1712=)
NM_001378454.1(ALMS1):c.5139A>G (p.Ser1713=)
NM_001378454.1(ALMS1):c.513C>T (p.Ser171=)
NM_001378454.1(ALMS1):c.5142T>C (p.Tyr1714=) rs772136379
NM_001378454.1(ALMS1):c.5151G>A (p.Lys1717=)
NM_001378454.1(ALMS1):c.5160C>T (p.Val1720=)
NM_001378454.1(ALMS1):c.5166C>T (p.Tyr1722=)
NM_001378454.1(ALMS1):c.5176C>T (p.Leu1726=) rs373864798
NM_001378454.1(ALMS1):c.5178G>A (p.Leu1726=) rs2103785373
NM_001378454.1(ALMS1):c.5178G>T (p.Leu1726=) rs2103785373
NM_001378454.1(ALMS1):c.5181A>G (p.Pro1727=) rs2103785406
NM_001378454.1(ALMS1):c.5193A>G (p.Leu1731=)
NM_001378454.1(ALMS1):c.519T>C (p.Thr173=) rs749270228
NM_001378454.1(ALMS1):c.519T>G (p.Thr173=) rs749270228
NM_001378454.1(ALMS1):c.51G>A (p.Glu17=) rs1553396127
NM_001378454.1(ALMS1):c.5206C>T (p.Leu1736=)
NM_001378454.1(ALMS1):c.5208G>C (p.Leu1736=) rs755418143
NM_001378454.1(ALMS1):c.5226T>C (p.Pro1742=)
NM_001378454.1(ALMS1):c.5229A>G (p.Gln1743=)
NM_001378454.1(ALMS1):c.5232A>G (p.Pro1744=)
NM_001378454.1(ALMS1):c.5235T>C (p.Ala1745=)
NM_001378454.1(ALMS1):c.5247T>G (p.Thr1749=) rs1271339315
NM_001378454.1(ALMS1):c.5256T>A (p.Ser1752=) rs2103785711
NM_001378454.1(ALMS1):c.5280A>G (p.Ser1760=) rs1671947018
NM_001378454.1(ALMS1):c.528T>C (p.Asn176=)
NM_001378454.1(ALMS1):c.5292G>A (p.Lys1764=) rs1393538628
NM_001378454.1(ALMS1):c.5295T>C (p.Pro1765=) rs1671947534
NM_001378454.1(ALMS1):c.5298T>C (p.Asn1766=) rs1320062396
NM_001378454.1(ALMS1):c.5304T>C (p.Ser1768=) rs753295349
NM_001378454.1(ALMS1):c.5307C>T (p.Tyr1769=)
NM_001378454.1(ALMS1):c.5310G>A (p.Gln1770=) rs778267451
NM_001378454.1(ALMS1):c.5313A>G (p.Gln1771=)
NM_001378454.1(ALMS1):c.5317T>C (p.Leu1773=)
NM_001378454.1(ALMS1):c.531G>A (p.Val177=)
NM_001378454.1(ALMS1):c.5322A>G (p.Pro1774=)
NM_001378454.1(ALMS1):c.5331T>C (p.His1777=) rs770037382
NM_001378454.1(ALMS1):c.5332C>T (p.Leu1778=) rs559383661
NM_001378454.1(ALMS1):c.5340A>G (p.Glu1780=) rs2103786116
NM_001378454.1(ALMS1):c.5364T>C (p.Val1788=) rs2103786225
NM_001378454.1(ALMS1):c.5379C>T (p.Asp1793=)
NM_001378454.1(ALMS1):c.5388T>G (p.Thr1796=)
NM_001378454.1(ALMS1):c.5394A>G (p.Val1798=) rs1269563462
NM_001378454.1(ALMS1):c.5415C>G (p.Ser1805=)
NM_001378454.1(ALMS1):c.5436C>T (p.Pro1812=) rs2103786498
NM_001378454.1(ALMS1):c.543T>C (p.Asp181=)
NM_001378454.1(ALMS1):c.5451G>A (p.Gln1817=)
NM_001378454.1(ALMS1):c.5478A>T (p.Ala1826=)
NM_001378454.1(ALMS1):c.5482T>C (p.Leu1828=) rs2103786711
NM_001378454.1(ALMS1):c.5484G>A (p.Leu1828=) rs376996058
NM_001378454.1(ALMS1):c.5496A>G (p.Arg1832=) rs1572936704
NM_001378454.1(ALMS1):c.5499T>A (p.Val1833=)
NM_001378454.1(ALMS1):c.5502T>C (p.Pro1834=)
NM_001378454.1(ALMS1):c.5514C>T (p.Asp1838=)
NM_001378454.1(ALMS1):c.5541C>G (p.Pro1847=) rs1389209265
NM_001378454.1(ALMS1):c.5541C>T (p.Pro1847=)
NM_001378454.1(ALMS1):c.5556A>C (p.Pro1852=)
NM_001378454.1(ALMS1):c.5571T>G (p.Ser1857=) rs1268193702
NM_001378454.1(ALMS1):c.5574C>G (p.Val1858=) rs770709146
NM_001378454.1(ALMS1):c.5574C>T (p.Val1858=) rs770709146
NM_001378454.1(ALMS1):c.5583T>C (p.Tyr1861=)
NM_001378454.1(ALMS1):c.5593T>C (p.Leu1865=) rs775039046
NM_001378454.1(ALMS1):c.5595G>A (p.Leu1865=) rs2103787065
NM_001378454.1(ALMS1):c.5640G>A (p.Gly1880=)
NM_001378454.1(ALMS1):c.564C>G (p.Pro188=)
NM_001378454.1(ALMS1):c.5655G>A (p.Lys1885=) rs2103787253
NM_001378454.1(ALMS1):c.5658T>C (p.Thr1886=) rs1019893311
NM_001378454.1(ALMS1):c.5661G>A (p.Gly1887=)
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.5676C>A (p.Ser1892=)
NM_001378454.1(ALMS1):c.5694T>C (p.Asn1898=) rs1317035563
NM_001378454.1(ALMS1):c.5706C>G (p.Ala1902=)
NM_001378454.1(ALMS1):c.5712T>A (p.Ile1904=)
NM_001378454.1(ALMS1):c.5715T>C (p.Phe1905=) rs1386434113
NM_001378454.1(ALMS1):c.5733A>G (p.Pro1911=)
NM_001378454.1(ALMS1):c.5742T>A (p.Thr1914=) rs2103787524
NM_001378454.1(ALMS1):c.5742T>C (p.Thr1914=)
NM_001378454.1(ALMS1):c.5757T>C (p.Asn1919=)
NM_001378454.1(ALMS1):c.5787G>A (p.Arg1929=) rs2103787695
NM_001378454.1(ALMS1):c.5790G>A (p.Lys1930=)
NM_001378454.1(ALMS1):c.57G>A (p.Glu19=) rs866503570
NM_001378454.1(ALMS1):c.5808A>G (p.Val1936=) rs2103787767
NM_001378454.1(ALMS1):c.5811T>C (p.Pro1937=)
NM_001378454.1(ALMS1):c.5812T>C (p.Leu1938=)
NM_001378454.1(ALMS1):c.5820C>T (p.Tyr1940=) rs2103787800
NM_001378454.1(ALMS1):c.5823C>T (p.Tyr1941=) rs1174994694
NM_001378454.1(ALMS1):c.5826A>T (p.Ser1942=)
NM_001378454.1(ALMS1):c.5828G>A (p.Arg1943His) rs146669152
NM_001378454.1(ALMS1):c.5838G>A (p.Lys1946=)
NM_001378454.1(ALMS1):c.583T>C (p.Leu195=) rs777906149
NM_001378454.1(ALMS1):c.5841C>G (p.Pro1947=)
NM_001378454.1(ALMS1):c.5841C>T (p.Pro1947=) rs1558650547
NM_001378454.1(ALMS1):c.5868A>G (p.Pro1956=)
NM_001378454.1(ALMS1):c.5871C>T (p.Asp1957=) rs747535416
NM_001378454.1(ALMS1):c.5889G>A (p.Glu1963=) rs2103788040
NM_001378454.1(ALMS1):c.5904A>C (p.Ser1968=) rs1050193710
NM_001378454.1(ALMS1):c.5904A>G (p.Ser1968=)
NM_001378454.1(ALMS1):c.5913T>C (p.Ser1971=)
NM_001378454.1(ALMS1):c.5919A>G (p.Pro1973=) rs755966607
NM_001378454.1(ALMS1):c.5922A>G (p.Ala1974=)
NM_001378454.1(ALMS1):c.5925G>A (p.Glu1975=) rs2103788193
NM_001378454.1(ALMS1):c.5952G>A (p.Leu1984=)
NM_001378454.1(ALMS1):c.5952G>T (p.Leu1984=) rs2103788277
NM_001378454.1(ALMS1):c.5955T>C (p.Ser1985=) rs2103788292
NM_001378454.1(ALMS1):c.5964C>T (p.Tyr1988=) rs2103788334
NM_001378454.1(ALMS1):c.5967A>G (p.Ser1989=)
NM_001378454.1(ALMS1):c.5973A>G (p.Ser1991=)
NM_001378454.1(ALMS1):c.5979A>G (p.Lys1993=) rs2103788409
NM_001378454.1(ALMS1):c.5988C>G (p.Leu1996=)
NM_001378454.1(ALMS1):c.5994T>A (p.Ile1998=) rs774242715
NM_001378454.1(ALMS1):c.6000T>C (p.Thr2000=) rs2103788462
NM_001378454.1(ALMS1):c.6003G>T (p.Val2001=) rs765190182
NM_001378454.1(ALMS1):c.6042T>C (p.Ala2014=)
NM_001378454.1(ALMS1):c.6045C>A (p.Thr2015=)
NM_001378454.1(ALMS1):c.6054C>G (p.Ser2018=) rs2103788731
NM_001378454.1(ALMS1):c.6075C>A (p.Pro2025=) rs2103788790
NM_001378454.1(ALMS1):c.6090G>A (p.Val2030=)
NM_001378454.1(ALMS1):c.6099A>G (p.Pro2033=)
NM_001378454.1(ALMS1):c.6117A>G (p.Pro2039=) rs2103788937
NM_001378454.1(ALMS1):c.6120C>G (p.Ser2040=)
NM_001378454.1(ALMS1):c.6147T>C (p.Ser2049=)
NM_001378454.1(ALMS1):c.6153A>G (p.Thr2051=) rs1671972805
NM_001378454.1(ALMS1):c.6156A>C (p.Val2052=)
NM_001378454.1(ALMS1):c.6156A>G (p.Val2052=)
NM_001378454.1(ALMS1):c.615C>G (p.Pro205=) rs2103701886
NM_001378454.1(ALMS1):c.6180G>A (p.Gln2060=) rs2103789211
NM_001378454.1(ALMS1):c.6183G>A (p.Gln2061=) rs200041852
NM_001378454.1(ALMS1):c.6189A>G (p.Pro2063=)
NM_001378454.1(ALMS1):c.6192T>C (p.Asp2064=) rs1357962379
NM_001378454.1(ALMS1):c.6213T>C (p.Ile2071=) rs1671974435
NM_001378454.1(ALMS1):c.6216A>C (p.Leu2072=)
NM_001378454.1(ALMS1):c.6231C>T (p.Val2077=) rs748449043
NM_001378454.1(ALMS1):c.6237A>G (p.Glu2079=)
NM_001378454.1(ALMS1):c.6261A>G (p.Lys2087=) rs2103789480
NM_001378454.1(ALMS1):c.6264A>T (p.Pro2088=)
NM_001378454.1(ALMS1):c.6267A>G (p.Val2089=) rs1357847945
NM_001378454.1(ALMS1):c.6279T>C (p.Ser2093=) rs1572937640
NM_001378454.1(ALMS1):c.627C>T (p.Leu209=)
NM_001378454.1(ALMS1):c.6291C>T (p.His2097=)
NM_001378454.1(ALMS1):c.6300A>G (p.Lys2100=)
NM_001378454.1(ALMS1):c.6302C>G (p.Ser2101Trp) rs28730854
NM_001378454.1(ALMS1):c.6303G>T (p.Ser2101=)
NM_001378454.1(ALMS1):c.6327G>A (p.Leu2109=)
NM_001378454.1(ALMS1):c.6336T>C (p.Ser2112=)
NM_001378454.1(ALMS1):c.633T>C (p.Cys211=) rs2103701981
NM_001378454.1(ALMS1):c.6354G>C (p.Val2118=)
NM_001378454.1(ALMS1):c.6355C>T (p.Leu2119=)
NM_001378454.1(ALMS1):c.6360G>A (p.Lys2120=) rs1671978064
NM_001378454.1(ALMS1):c.636T>C (p.Ser212=)
NM_001378454.1(ALMS1):c.6378A>G (p.Gly2126=) rs2103789892
NM_001378454.1(ALMS1):c.6378A>T (p.Gly2126=) rs2103789892
NM_001378454.1(ALMS1):c.6381A>G (p.Pro2127=) rs1671978462
NM_001378454.1(ALMS1):c.6396A>G (p.Thr2132=)
NM_001378454.1(ALMS1):c.6399A>T (p.Val2133=)
NM_001378454.1(ALMS1):c.639A>G (p.Pro213=) rs1370245923
NM_001378454.1(ALMS1):c.639A>T (p.Pro213=) rs1370245923
NM_001378454.1(ALMS1):c.63G>A (p.Glu21=) rs1004961829
NM_001378454.1(ALMS1):c.6405A>G (p.Pro2135=) rs2103789974
NM_001378454.1(ALMS1):c.640C>T (p.Leu214=)
NM_001378454.1(ALMS1):c.6423C>G (p.Ser2141=)
NM_001378454.1(ALMS1):c.6429A>G (p.Ser2143=) rs1165256588
NM_001378454.1(ALMS1):c.6433C>A (p.Arg2145=) rs770558150
NM_001378454.1(ALMS1):c.6447T>C (p.Asp2149=) rs765803796
NM_001378454.1(ALMS1):c.646+10G>A rs1553399998
NM_001378454.1(ALMS1):c.646+11T>C
NM_001378454.1(ALMS1):c.646+13T>C
NM_001378454.1(ALMS1):c.646+20A>G
NM_001378454.1(ALMS1):c.646+7C>G
NM_001378454.1(ALMS1):c.646+8C>T rs760012033
NM_001378454.1(ALMS1):c.6462G>A (p.Lys2154=)
NM_001378454.1(ALMS1):c.647-11A>C
NM_001378454.1(ALMS1):c.647-14T>G
NM_001378454.1(ALMS1):c.647-4A>G rs1553400427
NM_001378454.1(ALMS1):c.647-8C>T
NM_001378454.1(ALMS1):c.6474T>C (p.Asp2158=) rs2103790221
NM_001378454.1(ALMS1):c.6477A>G (p.Arg2159=)
NM_001378454.1(ALMS1):c.6481C>T (p.Leu2161=) rs2103790282
NM_001378454.1(ALMS1):c.6498A>G (p.Leu2166=)
NM_001378454.1(ALMS1):c.6504C>A (p.Ile2168=)
NM_001378454.1(ALMS1):c.6513T>C (p.Ala2171=) rs1671982281
NM_001378454.1(ALMS1):c.6519G>A (p.Gly2173=) rs2103790429
NM_001378454.1(ALMS1):c.6525T>G (p.Ala2175=)
NM_001378454.1(ALMS1):c.6534T>C (p.Ile2178=)
NM_001378454.1(ALMS1):c.6541T>C (p.Leu2181=)
NM_001378454.1(ALMS1):c.6543A>G (p.Leu2181=) rs1553404267
NM_001378454.1(ALMS1):c.654A>G (p.Gln218=) rs546669517
NM_001378454.1(ALMS1):c.6561T>A (p.Gly2187=)
NM_001378454.1(ALMS1):c.6591T>A (p.Leu2197=)
NM_001378454.1(ALMS1):c.6597A>G (p.Ser2199=)
NM_001378454.1(ALMS1):c.6603T>C (p.His2201=)
NM_001378454.1(ALMS1):c.6606C>A (p.Val2202=) rs2103790804
NM_001378454.1(ALMS1):c.663T>C (p.Phe221=)
NM_001378454.1(ALMS1):c.6642C>T (p.Ser2214=)
NM_001378454.1(ALMS1):c.6645T>C (p.Ser2215=)
NM_001378454.1(ALMS1):c.6663G>C (p.Val2221=)
NM_001378454.1(ALMS1):c.6681T>A (p.Ala2227=)
NM_001378454.1(ALMS1):c.6681T>C (p.Ala2227=) rs2103791063
NM_001378454.1(ALMS1):c.6696A>C (p.Val2232=)
NM_001378454.1(ALMS1):c.66G>A (p.Glu22=) rs1574423753
NM_001378454.1(ALMS1):c.6747C>A (p.Ile2249=) rs2103791280
NM_001378454.1(ALMS1):c.6777T>C (p.Leu2259=)
NM_001378454.1(ALMS1):c.6796T>C (p.Leu2266=)
NM_001378454.1(ALMS1):c.6819A>G (p.Ala2273=) rs2103791525
NM_001378454.1(ALMS1):c.681T>C (p.Pro227=) rs2103710453
NM_001378454.1(ALMS1):c.6828A>G (p.Arg2276=)
NM_001378454.1(ALMS1):c.6843T>C (p.Ala2281=)
NM_001378454.1(ALMS1):c.6846C>T (p.Pro2282=) rs2103791656
NM_001378454.1(ALMS1):c.6888A>G (p.Gln2296=)
NM_001378454.1(ALMS1):c.68_69insAGAGGA (p.Glu27_Glu28dup) rs756301830
NM_001378454.1(ALMS1):c.6909C>T (p.Phe2303=) rs1229228880
NM_001378454.1(ALMS1):c.6918C>G (p.Pro2306=)
NM_001378454.1(ALMS1):c.6918C>T (p.Pro2306=)
NM_001378454.1(ALMS1):c.6921T>C (p.Ser2307=)
NM_001378454.1(ALMS1):c.6927G>A (p.Thr2309=)
NM_001378454.1(ALMS1):c.6930T>C (p.Gly2310=)
NM_001378454.1(ALMS1):c.6933A>C (p.Val2311=)
NM_001378454.1(ALMS1):c.6936T>C (p.Ser2312=)
NM_001378454.1(ALMS1):c.6948G>A (p.Leu2316=) rs754729193
NM_001378454.1(ALMS1):c.6957A>G (p.Arg2319=)
NM_001378454.1(ALMS1):c.6963A>G (p.Pro2321=) rs2103792111
NM_001378454.1(ALMS1):c.696G>A (p.Leu232=) rs1394347088
NM_001378454.1(ALMS1):c.6972G>A (p.Glu2324=) rs2103792130
NM_001378454.1(ALMS1):c.6975A>G (p.Glu2325=) rs1455390186
NM_001378454.1(ALMS1):c.6984C>T (p.Ser2328=) rs2103792157
NM_001378454.1(ALMS1):c.6990G>A (p.Arg2330=) rs2103792165
NM_001378454.1(ALMS1):c.699A>G (p.Thr233=)
NM_001378454.1(ALMS1):c.69G>A (p.Glu23=)
NM_001378454.1(ALMS1):c.7008T>C (p.Ile2336=)
NM_001378454.1(ALMS1):c.7029A>G (p.Lys2343=) rs2103792354
NM_001378454.1(ALMS1):c.7033C>A (p.Arg2345=)
NM_001378454.1(ALMS1):c.7035G>A (p.Arg2345=)
NM_001378454.1(ALMS1):c.7041C>T (p.Gly2347=) rs2103792423
NM_001378454.1(ALMS1):c.7050T>C (p.Asn2350=)
NM_001378454.1(ALMS1):c.7059T>C (p.Phe2353=) rs1671996344
NM_001378454.1(ALMS1):c.705C>T (p.Asp235=)
NM_001378454.1(ALMS1):c.7086T>G (p.Pro2362=) rs1170522128
NM_001378454.1(ALMS1):c.7087C>T (p.Leu2363=)
NM_001378454.1(ALMS1):c.711A>G (p.Glu237=) rs2103710597
NM_001378454.1(ALMS1):c.7131T>C (p.Thr2377=) rs2103792743
NM_001378454.1(ALMS1):c.7155A>G (p.Lys2385=)
NM_001378454.1(ALMS1):c.7170T>C (p.Ser2390=)
NM_001378454.1(ALMS1):c.717G>T (p.Ala239=) rs373972884
NM_001378454.1(ALMS1):c.7182G>A (p.Gly2394=) rs1572938646
NM_001378454.1(ALMS1):c.7182G>T (p.Gly2394=) rs1572938646
NM_001378454.1(ALMS1):c.7194C>T (p.Thr2398=)
NM_001378454.1(ALMS1):c.7209T>C (p.Ile2403=)
NM_001378454.1(ALMS1):c.7215C>T (p.Ile2405=) rs2103793068
NM_001378454.1(ALMS1):c.7230C>T (p.Val2410=) rs2103793146
NM_001378454.1(ALMS1):c.7242T>C (p.Asp2414=)
NM_001378454.1(ALMS1):c.7251T>C (p.Ser2417=)
NM_001378454.1(ALMS1):c.7275C>G (p.Ser2425=) rs748261604
NM_001378454.1(ALMS1):c.7275C>T (p.Ser2425=) rs748261604
NM_001378454.1(ALMS1):c.7296A>G (p.Leu2432=)
NM_001378454.1(ALMS1):c.729A>G (p.Leu243=)
NM_001378454.1(ALMS1):c.7311A>G (p.Glu2437=)
NM_001378454.1(ALMS1):c.7320T>C (p.Ser2440=) rs1672002722
NM_001378454.1(ALMS1):c.7330C>T (p.Leu2444=)
NM_001378454.1(ALMS1):c.7341T>C (p.Phe2447=) rs1430973672
NM_001378454.1(ALMS1):c.7344A>C (p.Pro2448=) rs533061408
NM_001378454.1(ALMS1):c.7344A>G (p.Pro2448=) rs533061408
NM_001378454.1(ALMS1):c.7347T>C (p.Tyr2449=) rs755252895
NM_001378454.1(ALMS1):c.7353A>G (p.Ser2451=)
NM_001378454.1(ALMS1):c.7356C>T (p.Pro2452=) rs1290880090
NM_001378454.1(ALMS1):c.7389G>A (p.Glu2463=)
NM_001378454.1(ALMS1):c.7395G>T (p.Val2465=) rs1558651751
NM_001378454.1(ALMS1):c.7398A>G (p.Ser2466=) rs2103793843
NM_001378454.1(ALMS1):c.7435C>T (p.Leu2479=)
NM_001378454.1(ALMS1):c.7443A>G (p.Ala2481=)
NM_001378454.1(ALMS1):c.744A>G (p.Glu248=)
NM_001378454.1(ALMS1):c.7452A>G (p.Lys2484=) rs1286157205
NM_001378454.1(ALMS1):c.7455C>T (p.Asn2485=)
NM_001378454.1(ALMS1):c.7473C>T (p.Ser2491=) rs1572938980
NM_001378454.1(ALMS1):c.7482T>C (p.Asn2494=)
NM_001378454.1(ALMS1):c.7485T>C (p.His2495=)
NM_001378454.1(ALMS1):c.7491A>G (p.Lys2497=)
NM_001378454.1(ALMS1):c.74_75insGGAAGAGGA (p.Glu28_Ala29insGluGluGlu)
NM_001378454.1(ALMS1):c.7527G>A (p.Arg2509=) rs2103794339
NM_001378454.1(ALMS1):c.7530A>G (p.Val2510=) rs2103794345
NM_001378454.1(ALMS1):c.7536A>G (p.Ala2512=)
NM_001378454.1(ALMS1):c.7540+10A>G rs2103794412
NM_001378454.1(ALMS1):c.7540+14T>G rs533780922
NM_001378454.1(ALMS1):c.7540+18G>A
NM_001378454.1(ALMS1):c.7540+19G>A
NM_001378454.1(ALMS1):c.7540+20C>A rs1410444926
NM_001378454.1(ALMS1):c.7540+9A>G
NM_001378454.1(ALMS1):c.7541-17G>A
NM_001378454.1(ALMS1):c.7541-19G>A rs1553404624
NM_001378454.1(ALMS1):c.7541-4C>G rs1380143996
NM_001378454.1(ALMS1):c.7541-8C>T rs1553404629
NM_001378454.1(ALMS1):c.7557C>T (p.Phe2519=) rs2103797357
NM_001378454.1(ALMS1):c.756A>C (p.Ala252=) rs2103710786
NM_001378454.1(ALMS1):c.7575T>C (p.Cys2525=) rs1211562053
NM_001378454.1(ALMS1):c.7578A>G (p.Gly2526=) rs1204731958
NM_001378454.1(ALMS1):c.7581C>T (p.Tyr2527=) rs761997400
NM_001378454.1(ALMS1):c.7584C>G (p.Ser2528=) rs1672034621
NM_001378454.1(ALMS1):c.7596A>G (p.Leu2532=)
NM_001378454.1(ALMS1):c.7599T>C (p.Asn2533=)
NM_001378454.1(ALMS1):c.75_80del (p.Glu27_Glu28del) rs754175473
NM_001378454.1(ALMS1):c.75_83del (p.Glu26_Glu28del)
NM_001378454.1(ALMS1):c.7608C>T (p.Asp2536=)
NM_001378454.1(ALMS1):c.7609A>C (p.Arg2537=)
NM_001378454.1(ALMS1):c.760C>T (p.Leu254=) rs774576999
NM_001378454.1(ALMS1):c.7611G>A (p.Arg2537=)
NM_001378454.1(ALMS1):c.7620A>G (p.Val2540=)
NM_001378454.1(ALMS1):c.7623A>G (p.Glu2541=)
NM_001378454.1(ALMS1):c.7632G>A (p.Lys2544=)
NM_001378454.1(ALMS1):c.7635A>G (p.Ala2545=) rs752568120
NM_001378454.1(ALMS1):c.7638G>A (p.Glu2546=) rs1672035793
NM_001378454.1(ALMS1):c.764+12T>A
NM_001378454.1(ALMS1):c.764+12dup rs2103710895
NM_001378454.1(ALMS1):c.764+13A>C
NM_001378454.1(ALMS1):c.764+17G>A
NM_001378454.1(ALMS1):c.764+17G>T rs1057524596
NM_001378454.1(ALMS1):c.764+9A>T rs551013858
NM_001378454.1(ALMS1):c.7647T>C (p.Gly2549=)
NM_001378454.1(ALMS1):c.765-11T>C
NM_001378454.1(ALMS1):c.765-15_765-12del rs1432858141
NM_001378454.1(ALMS1):c.765-17T>C
NM_001378454.1(ALMS1):c.765-20_765-17del
NM_001378454.1(ALMS1):c.765-6T>A rs755762723
NM_001378454.1(ALMS1):c.765-6T>C rs755762723
NM_001378454.1(ALMS1):c.765-8A>G rs2103714342
NM_001378454.1(ALMS1):c.7650T>C (p.His2550=) rs756901095
NM_001378454.1(ALMS1):c.7666T>C (p.Leu2556=) rs2103797706
NM_001378454.1(ALMS1):c.7671C>T (p.Ser2557=) rs749872283
NM_001378454.1(ALMS1):c.7674+10A>G rs1553404676
NM_001378454.1(ALMS1):c.7674+13T>C
NM_001378454.1(ALMS1):c.7674+14C>T
NM_001378454.1(ALMS1):c.7675-12T>C
NM_001378454.1(ALMS1):c.7675-13_7675-10del
NM_001378454.1(ALMS1):c.7675-15G>T
NM_001378454.1(ALMS1):c.7675-4C>T
NM_001378454.1(ALMS1):c.7675-8T>C
NM_001378454.1(ALMS1):c.7675-9A>G rs2103889006
NM_001378454.1(ALMS1):c.7695A>C (p.Gly2565=) rs944178146
NM_001378454.1(ALMS1):c.7701A>G (p.Gly2567=)
NM_001378454.1(ALMS1):c.7710A>G (p.Pro2570=) rs750225944
NM_001378454.1(ALMS1):c.7713A>G (p.Glu2571=)
NM_001378454.1(ALMS1):c.7740G>A (p.Glu2580=)
NM_001378454.1(ALMS1):c.774T>C (p.Pro258=)
NM_001378454.1(ALMS1):c.7752G>A (p.Lys2584=) rs745947655
NM_001378454.1(ALMS1):c.7761C>T (p.Phe2587=) rs1553409598
NM_001378454.1(ALMS1):c.7770A>G (p.Leu2590=) rs753477646
NM_001378454.1(ALMS1):c.7788A>G (p.Gln2596=)
NM_001378454.1(ALMS1):c.7797A>G (p.Arg2599=)
NM_001378454.1(ALMS1):c.7800C>T (p.His2600=)
NM_001378454.1(ALMS1):c.780G>A (p.Lys260=) rs1553400683
NM_001378454.1(ALMS1):c.7821T>G (p.Ala2607=)
NM_001378454.1(ALMS1):c.7830A>G (p.Ser2610=)
NM_001378454.1(ALMS1):c.7839C>A (p.Thr2613=) rs746168704
NM_001378454.1(ALMS1):c.7839C>G (p.Thr2613=)
NM_001378454.1(ALMS1):c.7839C>T (p.Thr2613=) rs746168704
NM_001378454.1(ALMS1):c.783T>C (p.Ser261=) rs1572914265
NM_001378454.1(ALMS1):c.7854C>T (p.Asn2618=)
NM_001378454.1(ALMS1):c.7863A>G (p.Ser2621=)
NM_001378454.1(ALMS1):c.7866C>T (p.Cys2622=)
NM_001378454.1(ALMS1):c.7887T>C (p.Leu2629=)
NM_001378454.1(ALMS1):c.7887T>G (p.Leu2629=) rs1277528063
NM_001378454.1(ALMS1):c.7890T>C (p.Ser2630=)
NM_001378454.1(ALMS1):c.7893A>C (p.Ala2631=) rs2103889947
NM_001378454.1(ALMS1):c.7908C>T (p.Asn2636=)
NM_001378454.1(ALMS1):c.7911C>T (p.Asn2637=) rs751995271
NM_001378454.1(ALMS1):c.7926T>A (p.Val2642=) rs749406009
NM_001378454.1(ALMS1):c.792T>C (p.Thr264=)
NM_001378454.1(ALMS1):c.7935C>T (p.Ser2645=) rs2103890063
NM_001378454.1(ALMS1):c.7956C>T (p.Ser2652=) rs2103890112
NM_001378454.1(ALMS1):c.7986C>T (p.Phe2662=)
NM_001378454.1(ALMS1):c.7998A>G (p.Lys2666=)
NM_001378454.1(ALMS1):c.8013A>C (p.Pro2671=) rs1672940803
NM_001378454.1(ALMS1):c.801T>G (p.Ser267=) rs2103714530
NM_001378454.1(ALMS1):c.8031C>T (p.Asp2677=) rs754078506
NM_001378454.1(ALMS1):c.8043A>G (p.Ser2681=)
NM_001378454.1(ALMS1):c.8052A>G (p.Val2684=) rs2103890442
NM_001378454.1(ALMS1):c.8061T>A (p.Ala2687=)
NM_001378454.1(ALMS1):c.8070A>G (p.Pro2690=)
NM_001378454.1(ALMS1):c.8079A>G (p.Glu2693=)
NM_001378454.1(ALMS1):c.807A>G (p.Arg269=) rs2103714566
NM_001378454.1(ALMS1):c.810A>G (p.Pro270=) rs2103714585
NM_001378454.1(ALMS1):c.8127A>G (p.Lys2709=) rs766713925
NM_001378454.1(ALMS1):c.8130G>A (p.Lys2710=)
NM_001378454.1(ALMS1):c.8139C>T (p.Thr2713=) rs2103890785
NM_001378454.1(ALMS1):c.8142C>T (p.Ser2714=) rs1572969339
NM_001378454.1(ALMS1):c.8154A>G (p.Ser2718=)
NM_001378454.1(ALMS1):c.8163A>G (p.Arg2721=) rs756062297
NM_001378454.1(ALMS1):c.8178T>C (p.Ile2726=) rs773943182
NM_001378454.1(ALMS1):c.8205T>G (p.Gly2735=) rs2103891015
NM_001378454.1(ALMS1):c.8211T>C (p.Thr2737=) rs759935089
NM_001378454.1(ALMS1):c.8211T>G (p.Thr2737=) rs759935089
NM_001378454.1(ALMS1):c.8220C>T (p.Ser2740=) rs920410396
NM_001378454.1(ALMS1):c.8223G>A (p.Gln2741=)
NM_001378454.1(ALMS1):c.8229T>A (p.Thr2743=) rs2103891110
NM_001378454.1(ALMS1):c.8229T>C (p.Thr2743=) rs2103891110
NM_001378454.1(ALMS1):c.8235A>G (p.Ala2745=)
NM_001378454.1(ALMS1):c.8241G>A (p.Val2747=)
NM_001378454.1(ALMS1):c.8244G>A (p.Gly2748=) rs1488100564
NM_001378454.1(ALMS1):c.8244G>C (p.Gly2748=) rs1488100564
NM_001378454.1(ALMS1):c.8250T>C (p.Phe2750=)
NM_001378454.1(ALMS1):c.8256T>G (p.Ser2752=) rs2103891214
NM_001378454.1(ALMS1):c.8259T>C (p.His2753=)
NM_001378454.1(ALMS1):c.8286A>G (p.Arg2762=) rs2103891320
NM_001378454.1(ALMS1):c.8298G>A (p.Gln2766=)
NM_001378454.1(ALMS1):c.8304C>A (p.Thr2768=) rs2103891364
NM_001378454.1(ALMS1):c.8304C>G (p.Thr2768=)
NM_001378454.1(ALMS1):c.8310C>T (p.Ser2770=) rs2103891385
NM_001378454.1(ALMS1):c.8316A>G (p.Ser2772=)
NM_001378454.1(ALMS1):c.8316A>T (p.Ser2772=) rs777224319
NM_001378454.1(ALMS1):c.8340A>C (p.Ser2780=)
NM_001378454.1(ALMS1):c.8358T>G (p.Thr2786=) rs2103891552
NM_001378454.1(ALMS1):c.8376A>G (p.Arg2792=)
NM_001378454.1(ALMS1):c.8388A>G (p.Gln2796=)
NM_001378454.1(ALMS1):c.8391A>G (p.Lys2797=) rs2103891688
NM_001378454.1(ALMS1):c.8392T>C (p.Leu2798=)
NM_001378454.1(ALMS1):c.8394A>G (p.Leu2798=)
NM_001378454.1(ALMS1):c.840T>C (p.Ala280=) rs2103714655
NM_001378454.1(ALMS1):c.8454A>G (p.Thr2818=) rs1041301597
NM_001378454.1(ALMS1):c.8466T>G (p.Ser2822=)
NM_001378454.1(ALMS1):c.8469G>A (p.Glu2823=) rs2103891896
NM_001378454.1(ALMS1):c.8472C>T (p.Pro2824=) rs1467835066
NM_001378454.1(ALMS1):c.8490T>C (p.Cys2830=)
NM_001378454.1(ALMS1):c.849A>G (p.Glu283=)
NM_001378454.1(ALMS1):c.8505A>G (p.Glu2835=)
NM_001378454.1(ALMS1):c.8538C>T (p.Ser2846=) rs2103892193
NM_001378454.1(ALMS1):c.8550A>G (p.Pro2850=) rs1672956807
NM_001378454.1(ALMS1):c.8556C>T (p.Ser2852=) rs201560634
NM_001378454.1(ALMS1):c.8560C>T (p.Leu2854=) rs765176591
NM_001378454.1(ALMS1):c.8562A>G (p.Leu2854=) rs2103892303
NM_001378454.1(ALMS1):c.8565A>T (p.Gly2855=)
NM_001378454.1(ALMS1):c.8568A>G (p.Val2856=)
NM_001378454.1(ALMS1):c.8574A>G (p.Arg2858=) rs1489673662
NM_001378454.1(ALMS1):c.8592A>C (p.Gly2864=)
NM_001378454.1(ALMS1):c.8604G>A (p.Lys2868=)
NM_001378454.1(ALMS1):c.8613T>C (p.Thr2871=) rs1672958479
NM_001378454.1(ALMS1):c.8622A>C (p.Pro2874=) rs748474795
NM_001378454.1(ALMS1):c.8643T>C (p.Phe2881=)
NM_001378454.1(ALMS1):c.8658G>A (p.Glu2886=) rs555256551
NM_001378454.1(ALMS1):c.8661C>G (p.Leu2887=) rs2103892697
NM_001378454.1(ALMS1):c.8667A>G (p.Glu2889=) rs2103892726
NM_001378454.1(ALMS1):c.8670A>G (p.Gln2890=)
NM_001378454.1(ALMS1):c.8694C>T (p.Asp2898=) rs2103892855
NM_001378454.1(ALMS1):c.8697T>C (p.His2899=) rs1280810980
NM_001378454.1(ALMS1):c.8703G>A (p.Arg2901=) rs2103892882
NM_001378454.1(ALMS1):c.8721T>C (p.Ser2907=) rs1386201636
NM_001378454.1(ALMS1):c.8745T>A (p.Ala2915=) rs2103893096
NM_001378454.1(ALMS1):c.8754T>A (p.Leu2918=)
NM_001378454.1(ALMS1):c.8757T>C (p.Pro2919=) rs760452285
NM_001378454.1(ALMS1):c.8757T>G (p.Pro2919=)
NM_001378454.1(ALMS1):c.8763C>T (p.Cys2921=)
NM_001378454.1(ALMS1):c.876C>G (p.Arg292=)
NM_001378454.1(ALMS1):c.8796G>A (p.Gln2932=)
NM_001378454.1(ALMS1):c.8799C>T (p.Cys2933=) rs2103893317
NM_001378454.1(ALMS1):c.87T>A (p.Ala29=)
NM_001378454.1(ALMS1):c.8805C>A (p.Ala2935=) rs781220396
NM_001378454.1(ALMS1):c.8808A>G (p.Pro2936=)
NM_001378454.1(ALMS1):c.8820T>C (p.His2940=)
NM_001378454.1(ALMS1):c.8823A>G (p.Gln2941=)
NM_001378454.1(ALMS1):c.8829A>G (p.Arg2943=)
NM_001378454.1(ALMS1):c.8835C>T (p.Asn2945=)
NM_001378454.1(ALMS1):c.8847T>C (p.Leu2949=)
NM_001378454.1(ALMS1):c.8850T>A (p.Pro2950=)
NM_001378454.1(ALMS1):c.8853A>G (p.Gln2951=)
NM_001378454.1(ALMS1):c.8859G>A (p.Gln2953=) rs2103893646
NM_001378454.1(ALMS1):c.885A>G (p.Val295=)
NM_001378454.1(ALMS1):c.8874A>G (p.Ser2958=)
NM_001378454.1(ALMS1):c.8883G>C (p.Pro2961=)
NM_001378454.1(ALMS1):c.8889C>T (p.Pro2963=) rs145029950
NM_001378454.1(ALMS1):c.888T>C (p.Ser296=)
NM_001378454.1(ALMS1):c.8898T>A (p.Leu2966=) rs1572970207
NM_001378454.1(ALMS1):c.8901A>G (p.Glu2967=) rs371736476
NM_001378454.1(ALMS1):c.8919G>C (p.Ala2973=)
NM_001378454.1(ALMS1):c.8919G>T (p.Ala2973=)
NM_001378454.1(ALMS1):c.891G>A (p.Gln297=)
NM_001378454.1(ALMS1):c.8922A>G (p.Pro2974=)
NM_001378454.1(ALMS1):c.8934C>T (p.Asp2978=)
NM_001378454.1(ALMS1):c.8946A>G (p.Lys2982=) rs762397764
NM_001378454.1(ALMS1):c.8958C>T (p.Pro2986=) rs1478666857
NM_001378454.1(ALMS1):c.8980G>A (p.Val2994Ile) rs45566838
NM_001378454.1(ALMS1):c.9006G>A (p.Lys3002=) rs753980616
NM_001378454.1(ALMS1):c.900T>C (p.Leu300=) rs2103714886
NM_001378454.1(ALMS1):c.9042C>G (p.Ala3014=) rs769455651
NM_001378454.1(ALMS1):c.9042C>T (p.Ala3014=) rs769455651
NM_001378454.1(ALMS1):c.9045G>A (p.Lys3015=)
NM_001378454.1(ALMS1):c.9057G>A (p.Val3019=)
NM_001378454.1(ALMS1):c.9063C>G (p.Ser3021=)
NM_001378454.1(ALMS1):c.9066G>A (p.Gln3022=)
NM_001378454.1(ALMS1):c.9069A>C (p.Ser3023=) rs1672973190
NM_001378454.1(ALMS1):c.906C>T (p.Gly302=)
NM_001378454.1(ALMS1):c.9099T>C (p.Ser3033=)
NM_001378454.1(ALMS1):c.90A>C (p.Ala30=)
NM_001378454.1(ALMS1):c.90A>T (p.Ala30=) rs1420916551
NM_001378454.1(ALMS1):c.9108T>C (p.Thr3036=)
NM_001378454.1(ALMS1):c.9111T>C (p.Pro3037=) rs1672974409
NM_001378454.1(ALMS1):c.9135T>C (p.Ser3045=)
NM_001378454.1(ALMS1):c.9144T>C (p.His3048=) rs2103894899
NM_001378454.1(ALMS1):c.9156T>C (p.Cys3052=) rs2103894955
NM_001378454.1(ALMS1):c.9159C>A (p.Pro3053=)
NM_001378454.1(ALMS1):c.9159C>G (p.Pro3053=)
NM_001378454.1(ALMS1):c.9159C>T (p.Pro3053=)
NM_001378454.1(ALMS1):c.915T>C (p.Ala305=)
NM_001378454.1(ALMS1):c.9162G>A (p.Lys3054=) rs1268306031
NM_001378454.1(ALMS1):c.9180T>C (p.Asp3060=) rs1572970568
NM_001378454.1(ALMS1):c.918T>A (p.Val306=)
NM_001378454.1(ALMS1):c.9192A>G (p.Leu3064=)
NM_001378454.1(ALMS1):c.9210A>G (p.Ser3070=) rs541511993
NM_001378454.1(ALMS1):c.9210A>T (p.Ser3070=) rs541511993
NM_001378454.1(ALMS1):c.9211T>C (p.Leu3071=) rs2103895155
NM_001378454.1(ALMS1):c.9232A>C (p.Arg3078=) rs2103895260
NM_001378454.1(ALMS1):c.9240T>C (p.Asn3080=)
NM_001378454.1(ALMS1):c.9252C>T (p.Asn3084=) rs1237573573
NM_001378454.1(ALMS1):c.9267T>C (p.Thr3089=) rs2103895383
NM_001378454.1(ALMS1):c.9270A>G (p.Val3090=)
NM_001378454.1(ALMS1):c.9270A>T (p.Val3090=) rs779871507
NM_001378454.1(ALMS1):c.9303A>G (p.Leu3101=)
NM_001378454.1(ALMS1):c.9304T>C (p.Leu3102=) rs537370242
NM_001378454.1(ALMS1):c.9306G>A (p.Leu3102=) rs747617053
NM_001378454.1(ALMS1):c.9309C>T (p.Thr3103=) rs1319009177
NM_001378454.1(ALMS1):c.930C>T (p.Cys310=)
NM_001378454.1(ALMS1):c.9318T>A (p.Pro3106=) rs771679163
NM_001378454.1(ALMS1):c.933T>C (p.Pro311=) rs773082101
NM_001378454.1(ALMS1):c.9342A>G (p.Leu3114=) rs759935236
NM_001378454.1(ALMS1):c.9351A>G (p.Leu3117=) rs1672980633
NM_001378454.1(ALMS1):c.9366A>C (p.Ser3122=) rs2103895759
NM_001378454.1(ALMS1):c.9367C>T (p.Leu3123=)
NM_001378454.1(ALMS1):c.9381C>G (p.Val3127=)
NM_001378454.1(ALMS1):c.9393T>C (p.Ser3131=)
NM_001378454.1(ALMS1):c.9399A>G (p.Pro3133=)
NM_001378454.1(ALMS1):c.9402C>T (p.Asp3134=) rs2103895948
NM_001378454.1(ALMS1):c.9411T>C (p.Thr3137=) rs985056937
NM_001378454.1(ALMS1):c.9414T>C (p.Ile3138=)
NM_001378454.1(ALMS1):c.9423C>T (p.Asp3141=)
NM_001378454.1(ALMS1):c.9426G>A (p.Leu3142=)
NM_001378454.1(ALMS1):c.9465C>G (p.Ser3155=) rs1398748602
NM_001378454.1(ALMS1):c.9468G>A (p.Arg3156=)
NM_001378454.1(ALMS1):c.9471A>G (p.Gln3157=) rs1273315356
NM_001378454.1(ALMS1):c.9489A>G (p.Ser3163=)
NM_001378454.1(ALMS1):c.9507C>A (p.Ser3169=) rs2103896514
NM_001378454.1(ALMS1):c.9507C>T (p.Ser3169=)
NM_001378454.1(ALMS1):c.9510T>C (p.Asn3170=) rs1418366803
NM_001378454.1(ALMS1):c.9522C>A (p.Thr3174=) rs1419983457
NM_001378454.1(ALMS1):c.9522C>T (p.Thr3174=) rs1419983457
NM_001378454.1(ALMS1):c.9539+10A>C
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>T
NM_001378454.1(ALMS1):c.9539+16A>C
NM_001378454.1(ALMS1):c.9539+18A>G
NM_001378454.1(ALMS1):c.9539+20C>T rs759559244
NM_001378454.1(ALMS1):c.9539+7C>T
NM_001378454.1(ALMS1):c.9540-13_9540-12del rs2103961762
NM_001378454.1(ALMS1):c.9540-15C>G
NM_001378454.1(ALMS1):c.9540-15C>T
NM_001378454.1(ALMS1):c.9540-16del rs765235024
NM_001378454.1(ALMS1):c.9540-18T>G
NM_001378454.1(ALMS1):c.9546A>G (p.Pro3182=) rs2103961813
NM_001378454.1(ALMS1):c.9549G>A (p.Glu3183=)
NM_001378454.1(ALMS1):c.9564A>C (p.Pro3188=) rs1398767200
NM_001378454.1(ALMS1):c.9573T>C (p.Ala3191=) rs2103961933
NM_001378454.1(ALMS1):c.9576C>T (p.Phe3192=)
NM_001378454.1(ALMS1):c.9594T>C (p.Ser3198=)
NM_001378454.1(ALMS1):c.9603C>T (p.Val3201=)
NM_001378454.1(ALMS1):c.960T>C (p.Asn320=)
NM_001378454.1(ALMS1):c.9615A>G (p.Thr3205=) rs2103962093
NM_001378454.1(ALMS1):c.9636C>A (p.Thr3212=) rs749283920
NM_001378454.1(ALMS1):c.9636C>G (p.Thr3212=) rs749283920
NM_001378454.1(ALMS1):c.9636C>T (p.Thr3212=) rs749283920
NM_001378454.1(ALMS1):c.9645A>T (p.Ser3215=)
NM_001378454.1(ALMS1):c.9666T>C (p.Ala3222=)
NM_001378454.1(ALMS1):c.9666T>G (p.Ala3222=) rs1264120847
NM_001378454.1(ALMS1):c.9675T>C (p.Arg3225=)
NM_001378454.1(ALMS1):c.9678A>G (p.Gly3226=) rs1175450599
NM_001378454.1(ALMS1):c.9696T>C (p.Pro3232=)
NM_001378454.1(ALMS1):c.9699T>C (p.Gly3233=)
NM_001378454.1(ALMS1):c.96G>A (p.Ala32=)
NM_001378454.1(ALMS1):c.9702C>T (p.Asn3234=)
NM_001378454.1(ALMS1):c.9720T>A (p.Ala3240=) rs2103962507
NM_001378454.1(ALMS1):c.9723T>C (p.Pro3241=) rs2103962527
NM_001378454.1(ALMS1):c.972T>C (p.Ile324=)
NM_001378454.1(ALMS1):c.9735C>T (p.Ala3245=)
NM_001378454.1(ALMS1):c.9738A>C (p.Ser3246=)
NM_001378454.1(ALMS1):c.9738A>G (p.Ser3246=)
NM_001378454.1(ALMS1):c.9744T>G (p.Ser3248=)
NM_001378454.1(ALMS1):c.9747A>C (p.Ser3249=)
NM_001378454.1(ALMS1):c.9747A>G (p.Ser3249=) rs2103962624
NM_001378454.1(ALMS1):c.9753A>G (p.Gln3251=) rs1553412793
NM_001378454.1(ALMS1):c.9765T>C (p.Phe3255=)
NM_001378454.1(ALMS1):c.9771C>T (p.Arg3257=) rs758325542
NM_001378454.1(ALMS1):c.9781+17G>A rs1673645390
NM_001378454.1(ALMS1):c.9781+7G>A
NM_001378454.1(ALMS1):c.9782-18T>C rs995894081
NM_001378454.1(ALMS1):c.9782-18T>G rs995894081
NM_001378454.1(ALMS1):c.9782-6C>T rs1414733616
NM_001378454.1(ALMS1):c.9782-8C>T rs1553414061
NM_001378454.1(ALMS1):c.9782-8del
NM_001378454.1(ALMS1):c.9783C>A (p.Gly3261=) rs2103991992
NM_001378454.1(ALMS1):c.9796T>C (p.Leu3266=) rs2103992030
NM_001378454.1(ALMS1):c.9801A>C (p.Pro3267=)
NM_001378454.1(ALMS1):c.9801A>G (p.Pro3267=) rs1673992639
NM_001378454.1(ALMS1):c.9804T>C (p.Tyr3268=) rs368412850
NM_001378454.1(ALMS1):c.9810T>C (p.Pro3270=)
NM_001378454.1(ALMS1):c.9822C>T (p.Thr3274=) rs201446579
NM_001378454.1(ALMS1):c.9840A>C (p.Pro3280=) rs1392755260
NM_001378454.1(ALMS1):c.9843A>G (p.Gln3281=) rs1573000980
NM_001378454.1(ALMS1):c.9847A>C (p.Arg3283=) rs1224859058
NM_001378454.1(ALMS1):c.9858T>A (p.Pro3286=) rs2103992260
NM_001378454.1(ALMS1):c.9861A>C (p.Pro3287=)
NM_001378454.1(ALMS1):c.9867G>C (p.Pro3289=)
NM_001378454.1(ALMS1):c.9870T>C (p.Asp3290=) rs1673994711
NM_001378454.1(ALMS1):c.9876A>G (p.Lys3292=) rs1673995110
NM_001378454.1(ALMS1):c.9879A>G (p.Ser3293=) rs2103992339
NM_001378454.1(ALMS1):c.9888C>G (p.Thr3296=)
NM_001378454.1(ALMS1):c.988C>T (p.Leu330=) rs187880759
NM_001378454.1(ALMS1):c.9907+11G>A
NM_001378454.1(ALMS1):c.9907+16T>C
NM_001378454.1(ALMS1):c.9907+17A>T rs772675597
NM_001378454.1(ALMS1):c.9907+20C>A rs74730457
NM_001378454.1(ALMS1):c.9907+7T>C rs375870610
NM_001378454.1(ALMS1):c.9908-10T>A
NM_001378454.1(ALMS1):c.9908-10T>G
NM_001378454.1(ALMS1):c.9908-13C>G rs373325114
NM_001378454.1(ALMS1):c.9908-15C>G rs1389556610
NM_001378454.1(ALMS1):c.9908-16C>A
NM_001378454.1(ALMS1):c.9908-4G>A
NM_001378454.1(ALMS1):c.9908-5T>G
NM_001378454.1(ALMS1):c.9908-6C>T rs1553416191
NM_001378454.1(ALMS1):c.9939A>G (p.Pro3313=)
NM_001378454.1(ALMS1):c.993A>G (p.Lys331=)
NM_001378454.1(ALMS1):c.9945G>A (p.Gln3315=)
NM_001378454.1(ALMS1):c.9948G>A (p.Val3316=)
NM_001378454.1(ALMS1):c.9951A>G (p.Leu3317=) rs1573013141
NM_001378454.1(ALMS1):c.996T>C (p.Ile332=) rs760947833
NM_001378454.1(ALMS1):c.9972C>T (p.Leu3324=)
NM_001378454.1(ALMS1):c.9978C>T (p.Ala3326=)
NM_001378454.1(ALMS1):c.9981T>C (p.Thr3327=)
NM_001378454.1(ALMS1):c.9999A>G (p.Lys3333=)
NM_001378454.1(ALMS1):c.9C>T (p.Pro3=) rs570180164
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del) rs55889738

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