ClinVar Miner

List of variants in gene ALMS1 reported by Counsyl

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Gene type:
ClinVar version:
Total variants: 647
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.12362+18A>T rs535484933 0.00525
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu) rs200266868 0.00064
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly) rs184779459 0.00032
NM_001378454.1(ALMS1):c.11626A>G (p.Asn3876Asp) rs377130177 0.00026
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr) rs369682692 0.00026
NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu) rs766187468 0.00021
NM_001378454.1(ALMS1):c.8240T>G (p.Val2747Gly) rs188857186 0.00020
NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr) rs367656336 0.00019
NM_001378454.1(ALMS1):c.10651A>G (p.Asn3551Asp) rs200992340 0.00013
NM_001378454.1(ALMS1):c.11213G>A (p.Arg3738Gln) rs200378498 0.00013
NM_001378454.1(ALMS1):c.11868T>C (p.His3956=) rs370489767 0.00013
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu) rs376989302 0.00013
NM_001378454.1(ALMS1):c.6816G>A (p.Met2272Ile) rs765233946 0.00013
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr) rs368957150 0.00012
NM_001378454.1(ALMS1):c.1977G>A (p.Thr659=) rs201316401 0.00012
NM_001378454.1(ALMS1):c.-16A>G rs746944958 0.00011
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu) rs187132771 0.00011
NM_001378454.1(ALMS1):c.5347C>T (p.Leu1783=) rs562434013 0.00011
NM_001378454.1(ALMS1):c.5842A>G (p.Ser1948Gly) rs367728446 0.00011
NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg) rs150331660 0.00011
NM_001378454.1(ALMS1):c.9359A>C (p.Lys3120Thr) rs375038066 0.00011
NM_001378454.1(ALMS1):c.1433-3T>C rs367710998 0.00010
NM_001378454.1(ALMS1):c.2152C>T (p.His718Tyr) rs199572177 0.00010
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803 0.00010
NM_001378454.1(ALMS1):c.5849T>C (p.Ile1950Thr) rs773754661 0.00010
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=) rs367862140 0.00010
NM_001378454.1(ALMS1):c.9173A>G (p.Lys3058Arg) rs149329669 0.00010
NM_001378454.1(ALMS1):c.1061C>T (p.Thr354Ile) rs370726988 0.00009
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile) rs549757247 0.00009
NM_001378454.1(ALMS1):c.3395A>G (p.Gln1132Arg) rs202114540 0.00009
NM_001378454.1(ALMS1):c.9908-13C>T rs373325114 0.00009
NM_001378454.1(ALMS1):c.9496G>A (p.Glu3166Lys) rs201208516 0.00008
NM_001378454.1(ALMS1):c.12362G>A (p.Arg4121Gln) rs376602261 0.00007
NM_001378454.1(ALMS1):c.1339-3A>C rs572922738 0.00007
NM_001378454.1(ALMS1):c.6615A>T (p.Leu2205=) rs375011895 0.00007
NM_001378454.1(ALMS1):c.9321A>G (p.Val3107=) rs371108940 0.00007
NM_001378454.1(ALMS1):c.11414G>A (p.Arg3805Gln) rs201646938 0.00006
NM_001378454.1(ALMS1):c.11872+7T>A rs763235048 0.00006
NM_001378454.1(ALMS1):c.12330C>G (p.Ile4110Met) rs375524122 0.00006
NM_001378454.1(ALMS1):c.1237+9C>G rs201471551 0.00006
NM_001378454.1(ALMS1):c.12389A>G (p.Gln4130Arg) rs371587051 0.00006
NM_001378454.1(ALMS1):c.3038A>G (p.Tyr1013Cys) rs371893544 0.00006
NM_001378454.1(ALMS1):c.3096C>A (p.Gly1032=) rs368659119 0.00006
NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His) rs181507134 0.00006
NM_001378454.1(ALMS1):c.3578C>T (p.Ser1193Leu) rs200636395 0.00006
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr) rs373638043 0.00006
NM_001378454.1(ALMS1):c.7277G>C (p.Cys2426Ser) rs35649068 0.00006
NM_001378454.1(ALMS1):c.7359G>T (p.Lys2453Asn) rs1400122858 0.00006
NM_001378454.1(ALMS1):c.757C>T (p.Pro253Ser) rs368153355 0.00006
NM_001378454.1(ALMS1):c.8168C>A (p.Ser2723Tyr) rs368409205 0.00006
NM_001378454.1(ALMS1):c.11548-3T>C rs555547573 0.00005
NM_001378454.1(ALMS1):c.1710A>C (p.Val570=) rs201095989 0.00005
NM_001378454.1(ALMS1):c.2629A>G (p.Asn877Asp) rs776351580 0.00005
NM_001378454.1(ALMS1):c.4483C>G (p.Leu1495Val) rs373213201 0.00005
NM_001378454.1(ALMS1):c.4857A>G (p.Ala1619=) rs367772965 0.00005
NM_001378454.1(ALMS1):c.6143A>G (p.Tyr2048Cys) rs201162418 0.00005
NM_001378454.1(ALMS1):c.6706C>A (p.Pro2236Thr) rs200724860 0.00005
NM_001378454.1(ALMS1):c.9018C>T (p.His3006=) rs376757358 0.00005
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312 0.00004
NM_001378454.1(ALMS1):c.11032C>T (p.Arg3678Trp) rs766771102 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.11669-7C>A rs548573570 0.00004
NM_001378454.1(ALMS1):c.1339C>G (p.Pro447Ala) rs377283762 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.2022C>T (p.Asp674=) rs374151754 0.00004
NM_001378454.1(ALMS1):c.2434T>G (p.Ser812Ala) rs376991574 0.00004
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter) rs751804613 0.00004
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter) rs150825781 0.00004
NM_001378454.1(ALMS1):c.4324G>T (p.Val1442Phe) rs375842278 0.00004
NM_001378454.1(ALMS1):c.4448T>C (p.Ile1483Thr) rs370271775 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.536C>T (p.Thr179Met) rs768531502 0.00004
NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu) rs191286546 0.00004
NM_001378454.1(ALMS1):c.6853C>T (p.Arg2285Cys) rs375458331 0.00004
NM_001378454.1(ALMS1):c.6926C>T (p.Thr2309Met) rs147001219 0.00004
NM_001378454.1(ALMS1):c.7017G>A (p.Gln2339=) rs190319211 0.00004
NM_001378454.1(ALMS1):c.7577G>A (p.Gly2526Glu) rs201654702 0.00004
NM_001378454.1(ALMS1):c.777T>G (p.Asp259Glu) rs190445250 0.00004
NM_001378454.1(ALMS1):c.7812C>G (p.Phe2604Leu) rs201739856 0.00004
NM_001378454.1(ALMS1):c.8711A>C (p.His2904Pro) rs370508584 0.00004
NM_001378454.1(ALMS1):c.9263A>G (p.His3088Arg) rs376083621 0.00004
NM_001378454.1(ALMS1):c.9386A>C (p.Gln3129Pro) rs372015288 0.00004
NM_001378454.1(ALMS1):c.955A>G (p.Asn319Asp) rs376892136 0.00004
NM_001378454.1(ALMS1):c.9866C>T (p.Pro3289Leu) rs369660958 0.00004
NM_001378454.1(ALMS1):c.10304A>G (p.Lys3435Arg) rs187607395 0.00003
NM_001378454.1(ALMS1):c.10389C>T (p.Ser3463=) rs760299487 0.00003
NM_001378454.1(ALMS1):c.10985A>G (p.Glu3662Gly) rs377418428 0.00003
NM_001378454.1(ALMS1):c.11441A>C (p.Asn3814Thr) rs763907736 0.00003
NM_001378454.1(ALMS1):c.11798G>A (p.Arg3933His) rs45576434 0.00003
NM_001378454.1(ALMS1):c.12350A>G (p.Gln4117Arg) rs200038446 0.00003
NM_001378454.1(ALMS1):c.1432+4C>T rs200933935 0.00003
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=) rs750362630 0.00003
NM_001378454.1(ALMS1):c.2128A>G (p.Thr710Ala) rs367641723 0.00003
NM_001378454.1(ALMS1):c.2134C>G (p.Leu712Val) rs371524359 0.00003
NM_001378454.1(ALMS1):c.2196C>T (p.Asp732=) rs754758293 0.00003
NM_001378454.1(ALMS1):c.2486A>G (p.His829Arg) rs370830603 0.00003
NM_001378454.1(ALMS1):c.2494G>A (p.Glu832Lys) rs373979607 0.00003
NM_001378454.1(ALMS1):c.2922A>T (p.Leu974=) rs199769789 0.00003
NM_001378454.1(ALMS1):c.329T>C (p.Val110Ala) rs1193275022 0.00003
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala) rs201884768 0.00003
NM_001378454.1(ALMS1):c.4267A>T (p.Thr1423Ser) rs746145270 0.00003
NM_001378454.1(ALMS1):c.4872C>T (p.Pro1624=) rs372692493 0.00003
NM_001378454.1(ALMS1):c.5174C>A (p.Ala1725Asp) rs764135516 0.00003
NM_001378454.1(ALMS1):c.7402A>G (p.Ser2468Gly) rs1007457582 0.00003
NM_001378454.1(ALMS1):c.7675-19G>A rs1399037677 0.00003
NM_001378454.1(ALMS1):c.7892C>T (p.Ala2631Val) rs1027248513 0.00003
NM_001378454.1(ALMS1):c.7983A>T (p.Glu2661Asp) rs1213279792 0.00003
NM_001378454.1(ALMS1):c.8074A>G (p.Lys2692Glu) rs201025991 0.00003
NM_001378454.1(ALMS1):c.8122A>C (p.Met2708Leu) rs371904071 0.00003
NM_001378454.1(ALMS1):c.8257C>A (p.His2753Asn) rs200718841 0.00003
NM_001378454.1(ALMS1):c.8577G>A (p.Ser2859=) rs199850691 0.00003
NM_001378454.1(ALMS1):c.9112C>T (p.Pro3038Ser) rs370622410 0.00003
NM_001378454.1(ALMS1):c.9888C>T (p.Thr3296=) rs372451785 0.00003
NM_001378454.1(ALMS1):c.10081G>T (p.Ala3361Ser) rs770904502 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.10384+3A>G rs752727300 0.00002
NM_001378454.1(ALMS1):c.10427T>C (p.Val3476Ala) rs750128969 0.00002
NM_001378454.1(ALMS1):c.10461C>T (p.Pro3487=) rs202036843 0.00002
NM_001378454.1(ALMS1):c.10630A>G (p.Arg3544Gly) rs773075850 0.00002
NM_001378454.1(ALMS1):c.11667del (p.Gly3890fs) rs1553421496 0.00002
NM_001378454.1(ALMS1):c.11668+17A>G rs201109126 0.00002
NM_001378454.1(ALMS1):c.11742C>T (p.Ser3914=) rs374909171 0.00002
NM_001378454.1(ALMS1):c.11755T>C (p.Leu3919=) rs750372739 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.1238-20A>G rs771811655 0.00002
NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter) rs192496253 0.00002
NM_001378454.1(ALMS1):c.1338+18G>A rs369695595 0.00002
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter) rs755760721 0.00002
NM_001378454.1(ALMS1):c.2293T>C (p.Ser765Pro) rs373936479 0.00002
NM_001378454.1(ALMS1):c.2420C>G (p.Pro807Arg) rs372717861 0.00002
NM_001378454.1(ALMS1):c.2686C>G (p.Gln896Glu) rs376834704 0.00002
NM_001378454.1(ALMS1):c.2739G>C (p.Lys913Asn) rs373378385 0.00002
NM_001378454.1(ALMS1):c.2753C>G (p.Ser918Cys) rs369228801 0.00002
NM_001378454.1(ALMS1):c.2817A>G (p.Val939=) rs376517753 0.00002
NM_001378454.1(ALMS1):c.3120T>A (p.Thr1040=) rs372764773 0.00002
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala) rs760866713 0.00002
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228 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.5194A>T (p.Thr1732Ser) rs370735089 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.5566C>G (p.His1856Asp) rs777664567 0.00002
NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val) rs370830919 0.00002
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=) rs373972884 0.00002
NM_001378454.1(ALMS1):c.7287C>G (p.Asp2429Glu) rs994637726 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.7912T>A (p.Ser2638Thr) rs548882067 0.00002
NM_001378454.1(ALMS1):c.872G>C (p.Ser291Thr) rs568470985 0.00002
NM_001378454.1(ALMS1):c.8928A>G (p.Val2976=) rs373374154 0.00002
NM_001378454.1(ALMS1):c.902T>C (p.Ile301Thr) rs374259576 0.00002
NM_001378454.1(ALMS1):c.9281C>T (p.Ser3094Leu) rs368970124 0.00002
NM_001378454.1(ALMS1):c.9360A>G (p.Lys3120=) rs368408369 0.00002
NM_001378454.1(ALMS1):c.9828G>A (p.Met3276Ile) rs551840069 0.00002
NM_001378454.1(ALMS1):c.9907+7T>G rs375870610 0.00002
NM_001378454.1(ALMS1):c.-19C>T rs1553396078 0.00001
NM_001378454.1(ALMS1):c.-20G>A rs935547269 0.00001
NM_001378454.1(ALMS1):c.1006T>C (p.Cys336Arg) rs746923506 0.00001
NM_001378454.1(ALMS1):c.10078+10T>C rs752454047 0.00001
NM_001378454.1(ALMS1):c.10078+2dup rs755740074 0.00001
NM_001378454.1(ALMS1):c.10079-10G>A rs778996015 0.00001
NM_001378454.1(ALMS1):c.10177G>A (p.Ala3393Thr) rs145678202 0.00001
NM_001378454.1(ALMS1):c.10213+11T>C rs1553416883 0.00001
NM_001378454.1(ALMS1):c.10214-5C>T rs751591632 0.00001
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly) rs746702722 0.00001
NM_001378454.1(ALMS1):c.10334C>T (p.Pro3445Leu) rs1170663588 0.00001
NM_001378454.1(ALMS1):c.10385-9C>T rs568809052 0.00001
NM_001378454.1(ALMS1):c.10467C>T (p.His3489=) rs371631738 0.00001
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter) rs1275113273 0.00001
NM_001378454.1(ALMS1):c.10625A>G (p.Tyr3542Cys) rs761771973 0.00001
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter) rs1192396248 0.00001
NM_001378454.1(ALMS1):c.10862A>G (p.Lys3621Arg) rs1288339942 0.00001
NM_001378454.1(ALMS1):c.10973G>A (p.Arg3658Gln) rs781344338 0.00001
NM_001378454.1(ALMS1):c.11105G>A (p.Arg3702Gln) rs188864796 0.00001
NM_001378454.1(ALMS1):c.11204C>T (p.Ser3735Leu) rs367877017 0.00001
NM_001378454.1(ALMS1):c.11284G>A (p.Glu3762Lys) rs1243181452 0.00001
NM_001378454.1(ALMS1):c.11440A>G (p.Asn3814Asp) rs369256893 0.00001
NM_001378454.1(ALMS1):c.11457C>T (p.Tyr3819=) rs373397289 0.00001
NM_001378454.1(ALMS1):c.11477A>G (p.His3826Arg) rs371105298 0.00001
NM_001378454.1(ALMS1):c.11516C>T (p.Thr3839Ile) rs376255515 0.00001
NM_001378454.1(ALMS1):c.11547+13A>G rs753246208 0.00001
NM_001378454.1(ALMS1):c.11547+4C>T rs753353269 0.00001
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs) rs760264695 0.00001
NM_001378454.1(ALMS1):c.11669-12C>T rs774970704 0.00001
NM_001378454.1(ALMS1):c.11669-14A>G rs768036112 0.00001
NM_001378454.1(ALMS1):c.11669-1G>A rs750737346 0.00001
NM_001378454.1(ALMS1):c.11705C>G (p.Thr3902Ser) rs369008610 0.00001
NM_001378454.1(ALMS1):c.1188G>A (p.Gln396=) rs368655814 0.00001
NM_001378454.1(ALMS1):c.12299-6G>A rs771317399 0.00001
NM_001378454.1(ALMS1):c.12363-14G>A rs377374398 0.00001
NM_001378454.1(ALMS1):c.12436C>T (p.Arg4146Trp) rs763519566 0.00001
NM_001378454.1(ALMS1):c.12447C>T (p.Ala4149=) rs374020124 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.12496C>T (p.Pro4166Ser) rs267599450 0.00001
NM_001378454.1(ALMS1):c.1339-12G>T rs1260375872 0.00001
NM_001378454.1(ALMS1):c.1432+5G>A rs755613962 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.1717A>G (p.Ser573Gly) rs143478466 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001378454.1(ALMS1):c.1758G>A (p.Gln586=) rs377037998 0.00001
NM_001378454.1(ALMS1):c.1854C>T (p.Thr618=) rs1327400351 0.00001
NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys) rs193922693 0.00001
NM_001378454.1(ALMS1):c.2138C>G (p.Ser713Cys) rs771496254 0.00001
NM_001378454.1(ALMS1):c.2155A>G (p.Arg719Gly) rs1446915143 0.00001
NM_001378454.1(ALMS1):c.2296C>A (p.Gln766Lys) rs377000488 0.00001
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala) rs772260271 0.00001
NM_001378454.1(ALMS1):c.2443G>C (p.Glu815Gln) rs370978261 0.00001
NM_001378454.1(ALMS1):c.2472C>G (p.Ala824=) rs368270850 0.00001
NM_001378454.1(ALMS1):c.2521T>C (p.Ser841Pro) rs949198387 0.00001
NM_001378454.1(ALMS1):c.2743A>G (p.Ile915Val) rs200704524 0.00001
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter) rs750326619 0.00001
NM_001378454.1(ALMS1):c.28G>A (p.Gly10Ser) rs1045405319 0.00001
NM_001378454.1(ALMS1):c.2990C>T (p.Thr997Ile) rs1240072348 0.00001
NM_001378454.1(ALMS1):c.324+10G>C rs778690416 0.00001
NM_001378454.1(ALMS1):c.325-6T>C rs760582213 0.00001
NM_001378454.1(ALMS1):c.3268C>G (p.Pro1090Ala) rs376232524 0.00001
NM_001378454.1(ALMS1):c.3324A>G (p.Gln1108=) rs780391682 0.00001
NM_001378454.1(ALMS1):c.3472G>A (p.Ala1158Thr) rs376302473 0.00001
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs) rs1296683633 0.00001
NM_001378454.1(ALMS1):c.3700C>T (p.Pro1234Ser) rs777259139 0.00001
NM_001378454.1(ALMS1):c.4163C>T (p.Pro1388Leu) rs377354387 0.00001
NM_001378454.1(ALMS1):c.4181A>G (p.Gln1394Arg) rs368955191 0.00001
NM_001378454.1(ALMS1):c.450+3A>G rs1371008925 0.00001
NM_001378454.1(ALMS1):c.451-19T>C rs768590349 0.00001
NM_001378454.1(ALMS1):c.4616T>C (p.Leu1539Pro) rs368273962 0.00001
NM_001378454.1(ALMS1):c.465G>C (p.Trp155Cys) rs1414087888 0.00001
NM_001378454.1(ALMS1):c.4827C>T (p.Asp1609=) rs371708421 0.00001
NM_001378454.1(ALMS1):c.485T>C (p.Met162Thr) rs371903967 0.00001
NM_001378454.1(ALMS1):c.4943C>G (p.Pro1648Arg) rs372540975 0.00001
NM_001378454.1(ALMS1):c.5035C>G (p.Leu1679Val) rs760829019 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_001378454.1(ALMS1):c.5199A>G (p.Gln1733=) rs374143515 0.00001
NM_001378454.1(ALMS1):c.5484G>T (p.Leu1828Phe) rs376996058 0.00001
NM_001378454.1(ALMS1):c.5556A>G (p.Pro1852=) rs372017680 0.00001
NM_001378454.1(ALMS1):c.557A>C (p.Asp186Ala) rs375830111 0.00001
NM_001378454.1(ALMS1):c.5608G>A (p.Glu1870Lys) rs372714431 0.00001
NM_001378454.1(ALMS1):c.5758G>A (p.Val1920Ile) rs373489525 0.00001
NM_001378454.1(ALMS1):c.5761T>G (p.Phe1921Val) rs545488125 0.00001
NM_001378454.1(ALMS1):c.5777A>G (p.Gln1926Arg) rs376161519 0.00001
NM_001378454.1(ALMS1):c.591A>G (p.Gln197=) rs373438786 0.00001
NM_001378454.1(ALMS1):c.6059C>T (p.Ser2020Leu) rs372116790 0.00001
NM_001378454.1(ALMS1):c.6071A>G (p.Lys2024Arg) rs369339997 0.00001
NM_001378454.1(ALMS1):c.6092T>C (p.Ile2031Thr) rs374673974 0.00001
NM_001378454.1(ALMS1):c.647-5T>C rs913268523 0.00001
NM_001378454.1(ALMS1):c.6495T>C (p.Ala2165=) rs189124891 0.00001
NM_001378454.1(ALMS1):c.6496C>G (p.Leu2166Val) rs1200119538 0.00001
NM_001378454.1(ALMS1):c.6538G>A (p.Gly2180Arg) rs145953016 0.00001
NM_001378454.1(ALMS1):c.6604G>A (p.Val2202Ile) rs371544118 0.00001
NM_001378454.1(ALMS1):c.6797T>A (p.Leu2266Ter) rs761071372 0.00001
NM_001378454.1(ALMS1):c.6966C>T (p.Phe2322=) rs370287018 0.00001
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter) rs989080548 0.00001
NM_001378454.1(ALMS1):c.7172A>T (p.Glu2391Val) rs368310126 0.00001
NM_001378454.1(ALMS1):c.7226C>G (p.Thr2409Ser) rs866357733 0.00001
NM_001378454.1(ALMS1):c.72G>A (p.Glu24=) rs1483677896 0.00001
NM_001378454.1(ALMS1):c.7404T>A (p.Ser2468Arg) rs749127545 0.00001
NM_001378454.1(ALMS1):c.753_754insA (p.Ala252fs) rs748892226 0.00001
NM_001378454.1(ALMS1):c.7541-15A>G rs1169514054 0.00001
NM_001378454.1(ALMS1):c.7559A>G (p.Asn2520Ser) rs377085127 0.00001
NM_001378454.1(ALMS1):c.764+14T>C rs1553400457 0.00001
NM_001378454.1(ALMS1):c.764+4G>A rs1167438151 0.00001
NM_001378454.1(ALMS1):c.765-16A>G rs765256601 0.00001
NM_001378454.1(ALMS1):c.7675-2A>G rs748477695 0.00001
NM_001378454.1(ALMS1):c.7697T>C (p.Met2566Thr) rs373385088 0.00001
NM_001378454.1(ALMS1):c.7700G>T (p.Gly2567Val) rs199831059 0.00001
NM_001378454.1(ALMS1):c.7743C>T (p.Ser2581=) rs370740871 0.00001
NM_001378454.1(ALMS1):c.8031C>A (p.Asp2677Glu) rs754078506 0.00001
NM_001378454.1(ALMS1):c.8195T>C (p.Val2732Ala) rs200859630 0.00001
NM_001378454.1(ALMS1):c.8560C>G (p.Leu2854Val) rs765176591 0.00001
NM_001378454.1(ALMS1):c.8654G>A (p.Arg2885Gln) rs185447739 0.00001
NM_001378454.1(ALMS1):c.8864C>G (p.Ser2955Cys) rs1248081824 0.00001
NM_001378454.1(ALMS1):c.8974G>T (p.Asp2992Tyr) rs937731506 0.00001
NM_001378454.1(ALMS1):c.9392C>T (p.Ser3131Phe) rs144588413 0.00001
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly) rs563393715 0.00001
NM_001378454.1(ALMS1):c.9539G>A (p.Arg3180Gln) rs772197358 0.00001
NM_001378454.1(ALMS1):c.953G>A (p.Gly318Glu) rs372886271 0.00001
NM_001378454.1(ALMS1):c.9610A>G (p.Ile3204Val) rs377600448 0.00001
NM_001378454.1(ALMS1):c.9669A>C (p.Glu3223Asp) rs376206840 0.00001
NM_001378454.1(ALMS1):c.9674G>A (p.Arg3225His) rs765685958 0.00001
NM_001378454.1(ALMS1):c.9782-13T>G rs530508947 0.00001
NM_001378454.1(ALMS1):c.9786G>A (p.Gln3262=) rs757139660 0.00001
NM_001378454.1(ALMS1):c.9803A>G (p.Tyr3268Cys) rs375515965 0.00001
NM_001378454.1(ALMS1):c.9830A>G (p.Tyr3277Cys) rs200826787 0.00001
NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs) rs754702823 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.-12C>G rs1553396082
NM_001378454.1(ALMS1):c.-1C>T rs756956183
NM_001378454.1(ALMS1):c.-7C>T rs1296403299
NM_001378454.1(ALMS1):c.-8dup rs1553396085
NM_001378454.1(ALMS1):c.-9G>A rs1553396083
NM_001378454.1(ALMS1):c.10043del (p.Pro3348fs) rs1553416233
NM_001378454.1(ALMS1):c.10079-11C>A rs368250605
NM_001378454.1(ALMS1):c.10079-19A>G rs935864365
NM_001378454.1(ALMS1):c.10079-1G>C rs1361885101
NM_001378454.1(ALMS1):c.10079-4C>G rs1446726516
NM_001378454.1(ALMS1):c.10108G>A (p.Asp3370Asn) rs751123703
NM_001378454.1(ALMS1):c.10131dup (p.Gln3378fs) rs1553416867
NM_001378454.1(ALMS1):c.10140G>C (p.Glu3380Asp) rs1045473444
NM_001378454.1(ALMS1):c.10177G>C (p.Ala3393Pro) rs145678202
NM_001378454.1(ALMS1):c.10213+17G>C rs1553416885
NM_001378454.1(ALMS1):c.10213+1G>A rs374681570
NM_001378454.1(ALMS1):c.10213+3A>G rs1553416881
NM_001378454.1(ALMS1):c.10214-11C>G rs1365430683
NM_001378454.1(ALMS1):c.10221TGC[6] (p.Ala3412dup) rs760731440
NM_001378454.1(ALMS1):c.10269GAA[1] (p.Lys3424del) rs1184260245
NM_001378454.1(ALMS1):c.10287_10288del (p.Lys3430fs) rs1553417044
NM_001378454.1(ALMS1):c.10316A>G (p.His3439Arg) rs139425340
NM_001378454.1(ALMS1):c.10333C>T (p.Pro3445Ser) rs267599448
NM_001378454.1(ALMS1):c.10368A>G (p.Leu3456=) rs929142880
NM_001378454.1(ALMS1):c.10374C>G (p.Ile3458Met) rs767799669
NM_001378454.1(ALMS1):c.10384+1G>A rs766366221
NM_001378454.1(ALMS1):c.10384+2dup rs1255846889
NM_001378454.1(ALMS1):c.10384+5T>C rs758235228
NM_001378454.1(ALMS1):c.10385-7T>G rs1298945759
NM_001378454.1(ALMS1):c.1041A>G (p.Ser347=) rs1553400737
NM_001378454.1(ALMS1):c.10458_10466dup (p.Pro3487_His3489dup) rs1553418413
NM_001378454.1(ALMS1):c.10481A>G (p.Gln3494Arg) rs1553418430
NM_001378454.1(ALMS1):c.10535_10536insTGTCTTTCCAAGATTGGAA (p.Lys3512fs) rs1220975714
NM_001378454.1(ALMS1):c.10544_10545insCA (p.Gln3516fs) rs1553418449
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter) rs375019820
NM_001378454.1(ALMS1):c.10571_10572insCACATAGAGA (p.Glu3524delinsAspThrTer) rs1553418457
NM_001378454.1(ALMS1):c.10731T>C (p.Ile3577=) rs1553418487
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs) rs1218465638
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs) rs1553418500
NM_001378454.1(ALMS1):c.10813dup (p.Tyr3605fs) rs1553418505
NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs) rs755616266
NM_001378454.1(ALMS1):c.10836dup (p.Arg3613fs) rs1553418512
NM_001378454.1(ALMS1):c.10844del (p.Pro3615fs) rs1553418513
NM_001378454.1(ALMS1):c.10860G>A (p.Arg3620=) rs373682259
NM_001378454.1(ALMS1):c.10G>T (p.Glu4Ter) rs1553396092
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs) rs1412574975
NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter) rs367877017
NM_001378454.1(ALMS1):c.11210G>A (p.Cys3737Tyr) rs1553418562
NM_001378454.1(ALMS1):c.11263T>A (p.Ser3755Thr) rs878854995
NM_001378454.1(ALMS1):c.11309A>G (p.Asp3770Gly) rs770147613
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) rs747272625
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs) rs768759374
NM_001378454.1(ALMS1):c.11511A>G (p.Leu3837=) rs374164508
NM_001378454.1(ALMS1):c.11547+12C>A rs755559102
NM_001378454.1(ALMS1):c.11547+12C>T rs755559102
NM_001378454.1(ALMS1):c.11547+1G>A rs1553418638
NM_001378454.1(ALMS1):c.11547+5A>C rs1181494101
NM_001378454.1(ALMS1):c.11547+7G>C rs1553418641
NM_001378454.1(ALMS1):c.11548-19A>T rs760271173
NM_001378454.1(ALMS1):c.11559T>A (p.His3853Gln) rs186141821
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.11616dup (p.Thr3873fs) rs1553421488
NM_001378454.1(ALMS1):c.11646_11648dup (p.Leu3883dup) rs1468861836
NM_001378454.1(ALMS1):c.11668+12A>G rs1553421500
NM_001378454.1(ALMS1):c.11668+6T>G rs1553421499
NM_001378454.1(ALMS1):c.11669-11del rs1261279730
NM_001378454.1(ALMS1):c.11669-3C>T rs767901840
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs) rs1553421626
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs) rs932538480
NM_001378454.1(ALMS1):c.11777CTT[1] (p.Ser3927del) rs1553421645
NM_001378454.1(ALMS1):c.11778T>C (p.Thr3926=) rs368160921
NM_001378454.1(ALMS1):c.1179A>T (p.Ser393=) rs765376715
NM_001378454.1(ALMS1):c.11809dup (p.Met3937fs) rs757722767
NM_001378454.1(ALMS1):c.11872+12A>G rs193922691
NM_001378454.1(ALMS1):c.11872+2T>A rs1553421657
NM_001378454.1(ALMS1):c.11872+9C>G rs768886966
NM_001378454.1(ALMS1):c.1192dup (p.Trp398fs) rs1553400778
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.1199A>G (p.Gln400Arg) rs372747251
NM_001378454.1(ALMS1):c.12299-14C>T rs1352077204
NM_001378454.1(ALMS1):c.12299-15T>C rs1553422033
NM_001378454.1(ALMS1):c.12299-15_12299-12del rs775452962
NM_001378454.1(ALMS1):c.12299-1G>A rs1313101326
NM_001378454.1(ALMS1):c.12299-3T>C rs1553422034
NM_001378454.1(ALMS1):c.1229_1230del (p.Tyr410fs) rs764503373
NM_001378454.1(ALMS1):c.12302_12305del (p.Phe4101fs) rs1553422035
NM_001378454.1(ALMS1):c.12362+16C>G rs1553422061
NM_001378454.1(ALMS1):c.12363-6T>G rs1553422641
NM_001378454.1(ALMS1):c.1237+14T>C rs1482335275
NM_001378454.1(ALMS1):c.1237+2T>C rs916056435
NM_001378454.1(ALMS1):c.1237+9C>T rs201471551
NM_001378454.1(ALMS1):c.1238-11C>G rs1553400951
NM_001378454.1(ALMS1):c.1238-11C>T rs1553400951
NM_001378454.1(ALMS1):c.12394_12397dup (p.Arg4133fs) rs776401197
NM_001378454.1(ALMS1):c.12398_12401del (p.Arg4133fs) rs761223068
NM_001378454.1(ALMS1):c.12461del (p.Lys4154fs) rs1553422659
NM_001378454.1(ALMS1):c.12462+12C>T rs1553422680
NM_001378454.1(ALMS1):c.12462+12_12462+18del rs1374364094
NM_001378454.1(ALMS1):c.12462+19T>C rs1309452497
NM_001378454.1(ALMS1):c.12462+1del rs750907119
NM_001378454.1(ALMS1):c.12462+3C>T rs1553422676
NM_001378454.1(ALMS1):c.12462+5G>A rs1553422678
NM_001378454.1(ALMS1):c.12463-10T>C rs754172101
NM_001378454.1(ALMS1):c.12463-11_12463-7del rs1553422758
NM_001378454.1(ALMS1):c.12463-9C>G rs1553422761
NM_001378454.1(ALMS1):c.1247del (p.Gln416fs) rs1553400956
NM_001378454.1(ALMS1):c.1338+11A>G rs1553400967
NM_001378454.1(ALMS1):c.1338+20T>A rs1466354765
NM_001378454.1(ALMS1):c.1339-20C>T rs1553401589
NM_001378454.1(ALMS1):c.1339-5A>G rs373469023
NM_001378454.1(ALMS1):c.1339-5A>T rs373469023
NM_001378454.1(ALMS1):c.1339-6C>T rs1553401597
NM_001378454.1(ALMS1):c.1339-8C>T rs1553401596
NM_001378454.1(ALMS1):c.137_139del (p.Val46del) rs1553396198
NM_001378454.1(ALMS1):c.137_145dup (p.43VEE[3]) rs1286794312
NM_001378454.1(ALMS1):c.1426_1431del (p.Lys476_Ala477del) rs1553401631
NM_001378454.1(ALMS1):c.1432+12A>G rs1553401640
NM_001378454.1(ALMS1):c.1432+14G>A rs1204922039
NM_001378454.1(ALMS1):c.1432+16A>G rs1553401642
NM_001378454.1(ALMS1):c.1432+1G>T rs1553401634
NM_001378454.1(ALMS1):c.1432+2_1432+15del rs1203193062
NM_001378454.1(ALMS1):c.1433-14C>A rs1553403232
NM_001378454.1(ALMS1):c.1557del (p.Gln519fs) rs1553403262
NM_001378454.1(ALMS1):c.1610_1611del (p.Leu537fs) rs1553403282
NM_001378454.1(ALMS1):c.188_189delinsC (p.Gln63fs) rs1553396238
NM_001378454.1(ALMS1):c.1999A>G (p.Thr667Ala) rs28730850
NM_001378454.1(ALMS1):c.1_9del (p.Met1_Pro3del) rs1553396088
NM_001378454.1(ALMS1):c.204_212del (p.Ile68_Glu71delinsMet) rs1553396244
NM_001378454.1(ALMS1):c.207C>T (p.Asp69=) rs752874408
NM_001378454.1(ALMS1):c.209ACGAGGAGG[1] (p.70DEE[1]) rs772848105
NM_001378454.1(ALMS1):c.209ACGAGGAGG[3] (p.70DEE[3]) rs772848105
NM_001378454.1(ALMS1):c.20del (p.Pro7fs) rs1340135231
NM_001378454.1(ALMS1):c.2130_2134del (p.Val711fs) rs1553403401
NM_001378454.1(ALMS1):c.2137T>C (p.Ser713Pro) rs1248095655
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs) rs771459937
NM_001378454.1(ALMS1):c.2179CAA[1] (p.Gln728del) rs1553403420
NM_001378454.1(ALMS1):c.2221dup (p.Thr741fs) rs769291842
NM_001378454.1(ALMS1):c.2293_2296del (p.Ser765fs) rs1457500348
NM_001378454.1(ALMS1):c.234C>G (p.Ala78=) rs368947491
NM_001378454.1(ALMS1):c.2374G>C (p.Ala792Pro) rs1181372708
NM_001378454.1(ALMS1):c.2680G>T (p.Gly894Cys) rs374262388
NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs) rs1230351650
NM_001378454.1(ALMS1):c.2790dup (p.Ala931fs) rs1553403560
NM_001378454.1(ALMS1):c.2848G>T (p.Val950Leu) rs370733145
NM_001378454.1(ALMS1):c.2849T>C (p.Val950Ala) rs374139959
NM_001378454.1(ALMS1):c.284dup (p.His96fs) rs1553396293
NM_001378454.1(ALMS1):c.2880A>G (p.Lys960=) rs1238528749
NM_001378454.1(ALMS1):c.2925T>C (p.Pro975=) rs751486678
NM_001378454.1(ALMS1):c.296C>A (p.Ser99Ter) rs1553396296
NM_001378454.1(ALMS1):c.2T>G (p.Met1Arg) rs1553396091
NM_001378454.1(ALMS1):c.3013C>T (p.His1005Tyr) rs1039388814
NM_001378454.1(ALMS1):c.3041_3042delinsT (p.Gln1014fs) rs1553403598
NM_001378454.1(ALMS1):c.3117G>T (p.Lys1039Asn) rs748646844
NM_001378454.1(ALMS1):c.3127C>T (p.Pro1043Ser) rs376987487
NM_001378454.1(ALMS1):c.324+12C>T rs1553396311
NM_001378454.1(ALMS1):c.324+14G>A rs1553396313
NM_001378454.1(ALMS1):c.324+16G>C rs1276086207
NM_001378454.1(ALMS1):c.324+16G>T rs1276086207
NM_001378454.1(ALMS1):c.324+18G>A rs1553396316
NM_001378454.1(ALMS1):c.324+4A>G rs1553396304
NM_001378454.1(ALMS1):c.324+7C>G rs1230102179
NM_001378454.1(ALMS1):c.325-15_325-13del rs1553398832
NM_001378454.1(ALMS1):c.325-1G>A rs764337753
NM_001378454.1(ALMS1):c.325-8A>C rs200740825
NM_001378454.1(ALMS1):c.32dup (p.Leu12fs) rs1553396098
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs) rs1553403656
NM_001378454.1(ALMS1):c.3478C>T (p.Pro1160Ser) rs1164554577
NM_001378454.1(ALMS1):c.3489_3498del (p.His1163fs) rs1553403685
NM_001378454.1(ALMS1):c.359_360del (p.Ile120fs) rs1553398842
NM_001378454.1(ALMS1):c.360_361insTATCAAGTATATCAA (p.Ile120_Val121insTyrGlnValTyrGln) rs1553398843
NM_001378454.1(ALMS1):c.375TAG[1] (p.Ser126del) rs760942576
NM_001378454.1(ALMS1):c.3815_3817del (p.Val1272del) rs954466797
NM_001378454.1(ALMS1):c.3825A>G (p.Thr1275=) rs1553403752
NM_001378454.1(ALMS1):c.3828T>C (p.Thr1276=) rs1553403755
NM_001378454.1(ALMS1):c.3838G>A (p.Ala1280Thr) rs767729719
NM_001378454.1(ALMS1):c.3873_3874del (p.Lys1292fs) rs1553403762
NM_001378454.1(ALMS1):c.3907AGT[1] (p.Ser1304del) rs775132874
NM_001378454.1(ALMS1):c.4045C>T (p.Pro1349Ser) rs1553403796
NM_001378454.1(ALMS1):c.4150C>T (p.His1384Tyr) rs1228297685
NM_001378454.1(ALMS1):c.4231G>A (p.Val1411Ile) rs1553403843
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs) rs1553403851
NM_001378454.1(ALMS1):c.4250G>A (p.Arg1417Gln) rs771362238
NM_001378454.1(ALMS1):c.4331del (p.Pro1444fs) rs1553403864
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter) rs778728424
NM_001378454.1(ALMS1):c.43_44insGGG (p.Glu14_Glu15insGly) rs778948871
NM_001378454.1(ALMS1):c.43_44insTGGAGGAGGAGG (p.Glu14_Glu15insValGluGluGlu) rs1553396123
NM_001378454.1(ALMS1):c.4425del (p.Ser1476fs) rs1553403882
NM_001378454.1(ALMS1):c.450+11T>G rs763724672
NM_001378454.1(ALMS1):c.450+12G>A rs1553398856
NM_001378454.1(ALMS1):c.450+19G>A rs1553398858
NM_001378454.1(ALMS1):c.450+22_450+25del rs764559198
NM_001378454.1(ALMS1):c.450+24_450+40del rs1553398860
NM_001378454.1(ALMS1):c.451-12A>G rs1274254541
NM_001378454.1(ALMS1):c.451-16T>C rs1553399953
NM_001378454.1(ALMS1):c.4626A>C (p.Gln1542His) rs201603580
NM_001378454.1(ALMS1):c.4730C>A (p.Pro1577Gln) rs148568833
NM_001378454.1(ALMS1):c.4843T>A (p.Leu1615Ile) rs375736124
NM_001378454.1(ALMS1):c.4914_4917del (p.Asn1638fs) rs779366889
NM_001378454.1(ALMS1):c.5010_5032del (p.Lys1670fs) rs1553403989
NM_001378454.1(ALMS1):c.5095G>A (p.Ala1699Thr) rs1553404004
NM_001378454.1(ALMS1):c.5176C>T (p.Leu1726=) rs373864798
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs) rs1553404020
NM_001378454.1(ALMS1):c.5196_5197del (p.Gln1733fs) rs1553404028
NM_001378454.1(ALMS1):c.5198AAG[1] (p.Glu1734del) rs1553404031
NM_001378454.1(ALMS1):c.51G>A (p.Glu17=) rs1553396127
NM_001378454.1(ALMS1):c.51_52insAAGGAG (p.Glu17_Glu18insLysGlu) rs1553396125
NM_001378454.1(ALMS1):c.5415del (p.Tyr1806fs) rs1553404066
NM_001378454.1(ALMS1):c.5417A>G (p.Tyr1806Cys) rs374046216
NM_001378454.1(ALMS1):c.5462del (p.Pro1821fs) rs770264966
NM_001378454.1(ALMS1):c.5570C>G (p.Ser1857Cys) rs375354717
NM_001378454.1(ALMS1):c.55G>A (p.Glu19Lys) rs939208094
NM_001378454.1(ALMS1):c.5622del (p.Ala1875fs) rs1057517445
NM_001378454.1(ALMS1):c.5627dup (p.Gly1877fs) rs1553404109
NM_001378454.1(ALMS1):c.57G>A (p.Glu19=) rs866503570
NM_001378454.1(ALMS1):c.5822A>G (p.Tyr1941Cys) rs374676136
NM_001378454.1(ALMS1):c.5828G>T (p.Arg1943Leu) rs146669152
NM_001378454.1(ALMS1):c.5848A>G (p.Ile1950Val) rs140062566
NM_001378454.1(ALMS1):c.5860del (p.Glu1954fs) rs1553404150
NM_001378454.1(ALMS1):c.5870A>G (p.Asp1957Gly) rs1464393698
NM_001378454.1(ALMS1):c.5886del (p.Glu1963fs) rs1553404156
NM_001378454.1(ALMS1):c.5904_5912del (p.Pro1969_Ser1971del) rs1060500042
NM_001378454.1(ALMS1):c.5978_5979del (p.Lys1993fs) rs1553404180
NM_001378454.1(ALMS1):c.605_610del (p.Val202_Lys203del) rs1553399981
NM_001378454.1(ALMS1):c.6068A>G (p.Glu2023Gly) rs376120513
NM_001378454.1(ALMS1):c.60_61insCAG (p.Glu20_Glu21insGln) rs1553396137
NM_001378454.1(ALMS1):c.6112A>T (p.Thr2038Ser) rs369011755
NM_001378454.1(ALMS1):c.6215T>C (p.Leu2072Pro) rs1382952433
NM_001378454.1(ALMS1):c.6216A>G (p.Leu2072=) rs754288227
NM_001378454.1(ALMS1):c.63_64insAAG (p.Glu21_Glu22insLys) rs905301935
NM_001378454.1(ALMS1):c.6433C>A (p.Arg2145=) rs770558150
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter) rs770558150
NM_001378454.1(ALMS1):c.646+10G>A rs1553399998
NM_001378454.1(ALMS1):c.646+4A>T rs1270489328
NM_001378454.1(ALMS1):c.646+5T>C rs1235104737
NM_001378454.1(ALMS1):c.646+8C>T rs760012033
NM_001378454.1(ALMS1):c.647-19_647-18insT rs1553400422
NM_001378454.1(ALMS1):c.647-4A>G rs1553400427
NM_001378454.1(ALMS1):c.6483_6486del (p.Thr2162fs) rs1553404252
NM_001378454.1(ALMS1):c.64_65insTGG (p.Glu21_Glu22insVal) rs1553396144
NM_001378454.1(ALMS1):c.6543A>G (p.Leu2181=) rs1553404267
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs) rs1034630858
NM_001378454.1(ALMS1):c.6570_6573dup (p.Gly2192fs) rs1553404277
NM_001378454.1(ALMS1):c.6587del (p.Lys2196fs) rs1553404283
NM_001378454.1(ALMS1):c.6690del (p.Val2231fs) rs1553404305
NM_001378454.1(ALMS1):c.66_67insAAGGAG (p.Glu22_Glu23insLysGlu) rs1553396142
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs) rs1553404310
NM_001378454.1(ALMS1):c.6799A>G (p.Met2267Val) rs142904692
NM_001378454.1(ALMS1):c.6837del (p.Pro2280fs) rs1553404337
NM_001378454.1(ALMS1):c.6854G>T (p.Arg2285Leu) rs6546839
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs) rs1553404358
NM_001378454.1(ALMS1):c.6925dup (p.Thr2309fs) rs1553404368
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs) rs1553404377
NM_001378454.1(ALMS1):c.695dup (p.Leu232fs) rs1553400437
NM_001378454.1(ALMS1):c.69_70insAAG (p.Glu23_Glu24insLys) rs1006328829
NM_001378454.1(ALMS1):c.7004A>T (p.Asp2335Val) rs771422712
NM_001378454.1(ALMS1):c.7013C>A (p.Thr2338Lys) rs373004988
NM_001378454.1(ALMS1):c.7031G>C (p.Cys2344Ser) rs148306148
NM_001378454.1(ALMS1):c.7193C>A (p.Thr2398Asn) rs200470452
NM_001378454.1(ALMS1):c.7226del (p.Thr2409fs) rs1553404423
NM_001378454.1(ALMS1):c.7237dup (p.Ser2413fs) rs1553404426
NM_001378454.1(ALMS1):c.72_73insAAG (p.Glu24_Glu25insLys) rs1553396155
NM_001378454.1(ALMS1):c.7330_7331delinsATA (p.Leu2444fs) rs1553404457
NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer) rs1225343345
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs) rs1370417967
NM_001378454.1(ALMS1):c.7388_7392dup (p.Val2465fs) rs1553404473
NM_001378454.1(ALMS1):c.7454del (p.Asn2485fs) rs1217507627
NM_001378454.1(ALMS1):c.74_75insCGA (p.Glu24_Glu25insAsp) rs1491479006
NM_001378454.1(ALMS1):c.74_75insGAGGAA (p.Glu25_Glu26insArgLys) rs1574423810
NM_001378454.1(ALMS1):c.74_75insGGC (p.Glu25_Glu26insAla) rs1553396120
NM_001378454.1(ALMS1):c.7539_7540insAAT (p.His2513_Ala2514insAsn) rs757932553
NM_001378454.1(ALMS1):c.7540+11A>G rs1553404509
NM_001378454.1(ALMS1):c.7540+14T>G rs533780922
NM_001378454.1(ALMS1):c.7540+20C>A rs1410444926
NM_001378454.1(ALMS1):c.7541-17G>C rs758134188
NM_001378454.1(ALMS1):c.7541-19G>A rs1553404624
NM_001378454.1(ALMS1):c.7541-4C>G rs1380143996
NM_001378454.1(ALMS1):c.7541-8C>A rs1553404629
NM_001378454.1(ALMS1):c.75_77dup (p.Glu28dup) rs1553396161
NM_001378454.1(ALMS1):c.7639T>G (p.Leu2547Val) rs200155429
NM_001378454.1(ALMS1):c.764+3A>G rs772334395
NM_001378454.1(ALMS1):c.764+9A>T rs551013858
NM_001378454.1(ALMS1):c.765-13TA[2] rs1553400662
NM_001378454.1(ALMS1):c.765-6T>A rs755762723
NM_001378454.1(ALMS1):c.7653A>T (p.Gly2551=) rs1553404658
NM_001378454.1(ALMS1):c.7674+10A>G rs1553404676
NM_001378454.1(ALMS1):c.7674+3A>G rs1553404673
NM_001378454.1(ALMS1):c.7674+5A>G rs756532322
NM_001378454.1(ALMS1):c.7675-7C>T rs1553409573
NM_001378454.1(ALMS1):c.7675-8T>A rs1553409572
NM_001378454.1(ALMS1):c.769del (p.Ile257fs) rs1553400675
NM_001378454.1(ALMS1):c.7761C>T (p.Phe2587=) rs1553409598
NM_001378454.1(ALMS1):c.780G>A (p.Lys260=) rs1553400683
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs) rs1553409617
NM_001378454.1(ALMS1):c.7878T>A (p.His2626Gln) rs940478567
NM_001378454.1(ALMS1):c.7900G>T (p.Asp2634Tyr) rs201426207
NM_001378454.1(ALMS1):c.7998_8013dup (p.Phe2672fs) rs1553409656
NM_001378454.1(ALMS1):c.803_805del (p.Ser268_Arg269delinsTer) rs758952057
NM_001378454.1(ALMS1):c.8075AAG[1] (p.Glu2693del) rs1553409676
NM_001378454.1(ALMS1):c.8133del (p.Phe2711fs) rs1553409683
NM_001378454.1(ALMS1):c.8141_8148del (p.Ser2714fs) rs1553409686
NM_001378454.1(ALMS1):c.8152dup (p.Ser2718fs) rs1553409691
NM_001378454.1(ALMS1):c.8197A>C (p.Lys2733Gln) rs1553409698
NM_001378454.1(ALMS1):c.8315CAT[1] (p.Ser2773del) rs770459045
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer) rs1553409710
NM_001378454.1(ALMS1):c.8358_8363del (p.Ile2787_Leu2788del) rs1553409711
NM_001378454.1(ALMS1):c.8391dup (p.Leu2798fs) rs1553409715
NM_001378454.1(ALMS1):c.8630CTT[1] (p.Ser2878del) rs1553409754
NM_001378454.1(ALMS1):c.8648AAC[1] (p.Gln2884del) rs777935409
NM_001378454.1(ALMS1):c.8718dup (p.Ser2907fs) rs1553409764
NM_001378454.1(ALMS1):c.8756CTT[1] (p.Ser2920del) rs1553409775
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs) rs1553409774
NM_001378454.1(ALMS1):c.8790dup (p.Glu2931Ter) rs1553409778
NM_001378454.1(ALMS1):c.8901A>G (p.Glu2967=) rs371736476
NM_001378454.1(ALMS1):c.8992AAT[1] (p.Asn2999del) rs1553409817
NM_001378454.1(ALMS1):c.90_92del (p.Ala35del) rs973057702
NM_001378454.1(ALMS1):c.9109CCT[1] (p.Pro3038del) rs759799299
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs) rs1553409851
NM_001378454.1(ALMS1):c.9170_9190dup (p.Ser3057_Thr3063dup) rs1455775922
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup) rs746896173
NM_001378454.1(ALMS1):c.925_926insT (p.Gln309fs) rs1553400709
NM_001378454.1(ALMS1):c.9539+10A>G rs1553409904
NM_001378454.1(ALMS1):c.9539+13G>C rs369860432
NM_001378454.1(ALMS1):c.9539+1G>T rs1553409901
NM_001378454.1(ALMS1):c.9539+20C>T rs759559244
NM_001378454.1(ALMS1):c.9540-15C>A rs780375594
NM_001378454.1(ALMS1):c.9540-16del rs765235024
NM_001378454.1(ALMS1):c.9540-7dup rs750386293
NM_001378454.1(ALMS1):c.9547_9549del (p.Glu3183del) rs1553412739
NM_001378454.1(ALMS1):c.9613ACA[1] (p.Thr3206del) rs762803723
NM_001378454.1(ALMS1):c.9673C>T (p.Arg3225Cys) rs200215551
NM_001378454.1(ALMS1):c.9753A>G (p.Gln3251=) rs1553412793
NM_001378454.1(ALMS1):c.9754_9755insCTC (p.Gln3251_Gln3252insPro) rs766127195
NM_001378454.1(ALMS1):c.9760_9761dup (p.Phe3255fs) rs1553412797
NM_001378454.1(ALMS1):c.9781+11G>A rs970258030
NM_001378454.1(ALMS1):c.9781+19A>C rs895296631
NM_001378454.1(ALMS1):c.9781+5G>C rs1553412803
NM_001378454.1(ALMS1):c.9782-11dup rs1553414055
NM_001378454.1(ALMS1):c.9782-18T>C rs995894081
NM_001378454.1(ALMS1):c.9782-6C>T rs1414733616
NM_001378454.1(ALMS1):c.9782-8C>T rs1553414061
NM_001378454.1(ALMS1):c.9815_9828del (p.Gly3272fs) rs1553414071
NM_001378454.1(ALMS1):c.988C>T (p.Leu330=) rs187880759
NM_001378454.1(ALMS1):c.9907+17A>G rs772675597
NM_001378454.1(ALMS1):c.9907+20C>A rs74730457
NM_001378454.1(ALMS1):c.9907+5T>G rs1553414096
NM_001378454.1(ALMS1):c.9908-13C>G rs373325114
NM_001378454.1(ALMS1):c.9908-15C>G rs1389556610
NM_001378454.1(ALMS1):c.9908-6C>G rs1553416191
NM_001378454.1(ALMS1):c.9932A>C (p.Asp3311Ala) rs1553416202
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla) rs746896173
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del) rs55889738

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