ClinVar Miner

List of variants in gene ALMS1 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 580
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00273
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00149
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser) rs189032342 0.00086
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser) rs199874928 0.00073
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263 0.00071
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys) rs201816596 0.00067
NM_001378454.1(ALMS1):c.4024G>A (p.Val1342Ile) rs751346260 0.00062
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu) rs200266868 0.00062
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799 0.00061
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro) rs202227966 0.00058
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln) rs201673771 0.00058
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala) rs200467041 0.00051
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala) rs200054604 0.00048
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser) rs199917289 0.00041
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile) rs200529564 0.00041
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val) rs202111717 0.00040
NM_001378454.1(ALMS1):c.3307C>G (p.Pro1103Ala) rs200257398 0.00038
NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala) rs201804994 0.00037
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser) rs201971114 0.00037
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val) rs200075429 0.00036
NM_001378454.1(ALMS1):c.7820C>G (p.Ala2607Gly) rs140223281 0.00034
NM_001378454.1(ALMS1):c.6950T>C (p.Leu2317Pro) rs185469456 0.00033
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly) rs184779459 0.00032
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile) rs373211307 0.00029
NM_001378454.1(ALMS1):c.4543G>A (p.Ala1515Thr) rs183839621 0.00027
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.11070C>T (p.Gly3690=) rs371329585 0.00023
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro) rs201517720 0.00023
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro) rs201213079 0.00023
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp) rs374663067 0.00022
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu) rs372619046 0.00022
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln) rs199615641 0.00022
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr) rs201028172 0.00021
NM_001378454.1(ALMS1):c.2536G>A (p.Gly846Arg) rs201154998 0.00021
NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu) rs766187468 0.00021
NM_001378454.1(ALMS1):c.8765T>C (p.Ile2922Thr) rs201738475 0.00021
NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser) rs775431837 0.00020
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) rs199922877 0.00020
NM_001378454.1(ALMS1):c.3379C>T (p.Pro1127Ser) rs182127619 0.00020
NM_001378454.1(ALMS1):c.6442C>A (p.Pro2148Thr) rs377360750 0.00020
NM_001378454.1(ALMS1):c.8240T>G (p.Val2747Gly) rs188857186 0.00020
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg) rs373366352 0.00019
NM_001378454.1(ALMS1):c.5297A>G (p.Asn1766Ser) rs192863498 0.00019
NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr) rs367656336 0.00019
NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg) rs539112266 0.00019
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=) rs201478438 0.00019
NM_001378454.1(ALMS1):c.2893T>C (p.Tyr965His) rs201180147 0.00017
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877 0.00017
NM_001378454.1(ALMS1):c.3812C>A (p.Pro1271Gln) rs372563916 0.00016
NM_001378454.1(ALMS1):c.8644C>T (p.Leu2882Phe) rs373944325 0.00016
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys) rs200293447 0.00015
NM_001378454.1(ALMS1):c.6812A>G (p.Asn2271Ser) rs111659663 0.00015
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val) rs202228570 0.00015
NM_001378454.1(ALMS1):c.10533G>T (p.Trp3511Cys) rs761712682 0.00014
NM_001378454.1(ALMS1):c.331C>G (p.Pro111Ala) rs368354870 0.00014
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.121G>C (p.Val41Leu) rs201868751 0.00013
NM_001378454.1(ALMS1):c.2665A>G (p.Ile889Val) rs377282102 0.00013
NM_001378454.1(ALMS1):c.4394C>T (p.Thr1465Met) rs200980776 0.00013
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu) rs376989302 0.00013
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu) rs199604280 0.00013
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His) rs200441305 0.00013
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr) rs368957150 0.00012
NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg) rs371516347 0.00012
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala) rs199649563 0.00012
NM_001378454.1(ALMS1):c.6361G>C (p.Val2121Leu) rs200368564 0.00012
NM_001378454.1(ALMS1):c.1976C>T (p.Thr659Met) rs199682595 0.00011
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu) rs187132771 0.00011
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803 0.00011
NM_001378454.1(ALMS1):c.4886G>A (p.Arg1629Gln) rs142917664 0.00011
NM_001378454.1(ALMS1):c.5842A>G (p.Ser1948Gly) rs367728446 0.00011
NM_001378454.1(ALMS1):c.6379C>T (p.Pro2127Ser) rs771800459 0.00011
NM_001378454.1(ALMS1):c.9359A>C (p.Lys3120Thr) rs375038066 0.00011
NM_001378454.1(ALMS1):c.109G>C (p.Val37Leu) rs774784126 0.00010
NM_001378454.1(ALMS1):c.11033G>A (p.Arg3678Gln) rs371007945 0.00010
NM_001378454.1(ALMS1):c.2152C>T (p.His718Tyr) rs199572177 0.00010
NM_001378454.1(ALMS1):c.3103C>T (p.Pro1035Ser) rs531648685 0.00010
NM_001378454.1(ALMS1):c.3727G>C (p.Glu1243Gln) rs372620412 0.00010
NM_001378454.1(ALMS1):c.8918C>T (p.Ala2973Val) rs202110907 0.00010
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile) rs549757247 0.00009
NM_001378454.1(ALMS1):c.11867A>G (p.His3956Arg) rs553786370 0.00009
NM_001378454.1(ALMS1):c.1516A>T (p.Ile506Phe) rs555552377 0.00009
NM_001378454.1(ALMS1):c.3395A>G (p.Gln1132Arg) rs202114540 0.00009
NM_001378454.1(ALMS1):c.3892C>A (p.Gln1298Lys) rs770645262 0.00009
NM_001378454.1(ALMS1):c.4068G>C (p.Glu1356Asp) rs376812264 0.00009
NM_001378454.1(ALMS1):c.568C>A (p.Leu190Met) rs375838474 0.00009
NM_001378454.1(ALMS1):c.8530C>T (p.Leu2844Phe) rs920714816 0.00009
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly) rs563393715 0.00009
NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp) rs573748379 0.00008
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.3578C>T (p.Ser1193Leu) rs200636395 0.00007
NM_001378454.1(ALMS1):c.3965A>G (p.Gln1322Arg) rs1251705223 0.00007
NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly) rs868269804 0.00007
NM_001378454.1(ALMS1):c.9449G>A (p.Ser3150Asn) rs34029285 0.00007
NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser) rs553507775 0.00007
NM_001378454.1(ALMS1):c.9733G>A (p.Ala3245Thr) rs200432874 0.00007
NM_001378454.1(ALMS1):c.11414G>A (p.Arg3805Gln) rs201646938 0.00006
NM_001378454.1(ALMS1):c.12389A>G (p.Gln4130Arg) rs371587051 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.7846C>T (p.Arg2616Trp) rs145383239 0.00006
NM_001378454.1(ALMS1):c.8168C>A (p.Ser2723Tyr) rs368409205 0.00006
NM_001378454.1(ALMS1):c.8496T>A (p.Asn2832Lys) rs202048689 0.00006
NM_001378454.1(ALMS1):c.9321A>G (p.Val3107=) rs371108940 0.00006
NM_001378454.1(ALMS1):c.10817G>A (p.Arg3606Gln) rs148044176 0.00005
NM_001378454.1(ALMS1):c.11167A>G (p.Lys3723Glu) rs530985565 0.00005
NM_001378454.1(ALMS1):c.11792A>G (p.Glu3931Gly) rs776808559 0.00005
NM_001378454.1(ALMS1):c.12310A>G (p.Ile4104Val) rs780286947 0.00005
NM_001378454.1(ALMS1):c.12350A>G (p.Gln4117Arg) rs200038446 0.00005
NM_001378454.1(ALMS1):c.1400C>T (p.Thr467Ile) rs201990757 0.00005
NM_001378454.1(ALMS1):c.1548C>G (p.Asp516Glu) rs202002052 0.00005
NM_001378454.1(ALMS1):c.1867T>C (p.Ser623Pro) rs767987501 0.00005
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp) rs531859344 0.00005
NM_001378454.1(ALMS1):c.2875G>A (p.Glu959Lys) rs762124005 0.00005
NM_001378454.1(ALMS1):c.4173C>A (p.Phe1391Leu) rs370406004 0.00005
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr) rs373638043 0.00005
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala) rs770424780 0.00005
NM_001378454.1(ALMS1):c.5447A>G (p.Tyr1816Cys) rs780110659 0.00005
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys) rs370398704 0.00005
NM_001378454.1(ALMS1):c.6143A>G (p.Tyr2048Cys) rs201162418 0.00005
NM_001378454.1(ALMS1):c.6183G>C (p.Gln2061His) rs200041852 0.00005
NM_001378454.1(ALMS1):c.7199G>A (p.Gly2400Glu) rs373985919 0.00005
NM_001378454.1(ALMS1):c.7402A>G (p.Ser2468Gly) rs1007457582 0.00005
NM_001378454.1(ALMS1):c.94G>A (p.Ala32Thr) rs768161233 0.00005
NM_001378454.1(ALMS1):c.9769C>T (p.Arg3257Cys) rs373998843 0.00005
NM_001378454.1(ALMS1):c.11032C>T (p.Arg3678Trp) rs766771102 0.00004
NM_001378454.1(ALMS1):c.11567C>T (p.Ser3856Phe) rs1414717577 0.00004
NM_001378454.1(ALMS1):c.1420C>A (p.His474Asn) rs200454461 0.00004
NM_001378454.1(ALMS1):c.2269C>T (p.Pro757Ser) rs200827630 0.00004
NM_001378454.1(ALMS1):c.3319T>C (p.Tyr1107His) rs746162373 0.00004
NM_001378454.1(ALMS1):c.3464A>C (p.His1155Pro) rs553406974 0.00004
NM_001378454.1(ALMS1):c.3860C>T (p.Ser1287Leu) rs375231416 0.00004
NM_001378454.1(ALMS1):c.4448T>C (p.Ile1483Thr) rs370271775 0.00004
NM_001378454.1(ALMS1):c.4574A>C (p.Gln1525Pro) rs761249526 0.00004
NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu) rs191286546 0.00004
NM_001378454.1(ALMS1):c.6087T>C (p.Thr2029=) rs199967386 0.00004
NM_001378454.1(ALMS1):c.6458A>G (p.Gln2153Arg) rs534635095 0.00004
NM_001378454.1(ALMS1):c.686T>C (p.Leu229Pro) rs957824309 0.00004
NM_001378454.1(ALMS1):c.7276T>G (p.Cys2426Gly) rs549778430 0.00004
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr) rs760068474 0.00004
NM_001378454.1(ALMS1):c.7577G>A (p.Gly2526Glu) rs201654702 0.00004
NM_001378454.1(ALMS1):c.775G>C (p.Asp259His) rs367750679 0.00004
NM_001378454.1(ALMS1):c.7812C>G (p.Phe2604Leu) rs201739856 0.00004
NM_001378454.1(ALMS1):c.8074A>G (p.Lys2692Glu) rs201025991 0.00004
NM_001378454.1(ALMS1):c.820A>C (p.Ser274Arg) rs761800808 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.9770G>A (p.Arg3257His) rs748153319 0.00004
NM_001378454.1(ALMS1):c.10421G>A (p.Arg3474His) rs757108070 0.00003
NM_001378454.1(ALMS1):c.10823G>A (p.Arg3608Gln) rs752052259 0.00003
NM_001378454.1(ALMS1):c.10985A>G (p.Glu3662Gly) rs377418428 0.00003
NM_001378454.1(ALMS1):c.11293A>G (p.Ile3765Val) rs758062371 0.00003
NM_001378454.1(ALMS1):c.1139T>C (p.Ile380Thr) rs199872225 0.00003
NM_001378454.1(ALMS1):c.11711A>G (p.Asp3904Gly) rs1197037048 0.00003
NM_001378454.1(ALMS1):c.11827C>G (p.Pro3943Ala) rs556221316 0.00003
NM_001378454.1(ALMS1):c.1339C>G (p.Pro447Ala) rs377283762 0.00003
NM_001378454.1(ALMS1):c.1607C>G (p.Thr536Ser) rs766105909 0.00003
NM_001378454.1(ALMS1):c.1772A>T (p.Asp591Val) rs541118531 0.00003
NM_001378454.1(ALMS1):c.1971G>T (p.Gln657His) rs753296810 0.00003
NM_001378454.1(ALMS1):c.2134C>G (p.Leu712Val) rs371524359 0.00003
NM_001378454.1(ALMS1):c.2285G>C (p.Ser762Thr) rs768930001 0.00003
NM_001378454.1(ALMS1):c.245C>T (p.Ala82Val) rs747750620 0.00003
NM_001378454.1(ALMS1):c.2471C>A (p.Ala824Asp) rs754424459 0.00003
NM_001378454.1(ALMS1):c.2486A>G (p.His829Arg) rs370830603 0.00003
NM_001378454.1(ALMS1):c.2629A>G (p.Asn877Asp) rs776351580 0.00003
NM_001378454.1(ALMS1):c.2714C>G (p.Ser905Cys) rs748479099 0.00003
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala) rs201884768 0.00003
NM_001378454.1(ALMS1):c.3568A>G (p.Thr1190Ala) rs772287164 0.00003
NM_001378454.1(ALMS1):c.3959C>G (p.Ala1320Gly) rs1399638135 0.00003
NM_001378454.1(ALMS1):c.4267A>T (p.Thr1423Ser) rs746145270 0.00003
NM_001378454.1(ALMS1):c.4447A>G (p.Ile1483Val) rs749573527 0.00003
NM_001378454.1(ALMS1):c.4883A>G (p.Tyr1628Cys) rs375939859 0.00003
NM_001378454.1(ALMS1):c.536C>T (p.Thr179Met) rs768531502 0.00003
NM_001378454.1(ALMS1):c.5724G>C (p.Gln1908His) rs779739318 0.00003
NM_001378454.1(ALMS1):c.6937A>G (p.Asn2313Asp) rs766346478 0.00003
NM_001378454.1(ALMS1):c.7013C>T (p.Thr2338Ile) rs373004988 0.00003
NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val) rs370830919 0.00003
NM_001378454.1(ALMS1):c.7740G>C (p.Glu2580Asp) rs543921060 0.00003
NM_001378454.1(ALMS1):c.7763G>A (p.Arg2588Gln) rs372032202 0.00003
NM_001378454.1(ALMS1):c.8122A>C (p.Met2708Leu) rs371904071 0.00003
NM_001378454.1(ALMS1):c.8489G>A (p.Cys2830Tyr) rs369720907 0.00003
NM_001378454.1(ALMS1):c.8729A>G (p.His2910Arg) rs781370939 0.00003
NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln) rs778162209 0.00003
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg) rs574785830 0.00003
NM_001378454.1(ALMS1):c.8890A>G (p.Ile2964Val) rs529506570 0.00003
NM_001378454.1(ALMS1):c.8920C>T (p.Pro2974Ser) rs1043429291 0.00003
NM_001378454.1(ALMS1):c.9083G>A (p.Cys3028Tyr) rs565501407 0.00003
NM_001378454.1(ALMS1):c.9112C>T (p.Pro3038Ser) rs370622410 0.00003
NM_001378454.1(ALMS1):c.9565C>T (p.Leu3189Phe) rs376367125 0.00003
NM_001378454.1(ALMS1):c.9584A>C (p.Lys3195Thr) rs748234485 0.00003
NM_001378454.1(ALMS1):c.9614C>G (p.Thr3205Arg) rs753021818 0.00003
NM_001378454.1(ALMS1):c.10252G>A (p.Val3418Ile) rs775728363 0.00002
NM_001378454.1(ALMS1):c.10261C>A (p.Pro3421Thr) rs763306448 0.00002
NM_001378454.1(ALMS1):c.10427T>C (p.Val3476Ala) rs750128969 0.00002
NM_001378454.1(ALMS1):c.11204C>T (p.Ser3735Leu) rs367877017 0.00002
NM_001378454.1(ALMS1):c.11467C>T (p.Arg3823Trp) rs17848868 0.00002
NM_001378454.1(ALMS1):c.1153A>G (p.Ser385Gly) rs761174114 0.00002
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr) rs45630562 0.00002
NM_001378454.1(ALMS1):c.11695A>G (p.Lys3899Glu) rs966425951 0.00002
NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter) rs192496253 0.00002
NM_001378454.1(ALMS1):c.12473A>G (p.Asn4158Ser) rs752828644 0.00002
NM_001378454.1(ALMS1):c.132G>T (p.Glu44Asp) rs753958280 0.00002
NM_001378454.1(ALMS1):c.1450G>C (p.Gly484Arg) rs1212388844 0.00002
NM_001378454.1(ALMS1):c.1634C>T (p.Thr545Ile) rs772068213 0.00002
NM_001378454.1(ALMS1):c.176A>T (p.His59Leu) rs772683919 0.00002
NM_001378454.1(ALMS1):c.2005C>A (p.His669Asn) rs765216026 0.00002
NM_001378454.1(ALMS1):c.2059C>T (p.His687Tyr) rs771266951 0.00002
NM_001378454.1(ALMS1):c.3493C>T (p.Pro1165Ser) rs767103091 0.00002
NM_001378454.1(ALMS1):c.3881G>C (p.Ser1294Thr) rs373835067 0.00002
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala) rs760866713 0.00002
NM_001378454.1(ALMS1):c.4184C>T (p.Ser1395Leu) rs1329421967 0.00002
NM_001378454.1(ALMS1):c.4795A>G (p.Ile1599Val) rs377671796 0.00002
NM_001378454.1(ALMS1):c.5694T>A (p.Asn1898Lys) rs1317035563 0.00002
NM_001378454.1(ALMS1):c.5860G>A (p.Glu1954Lys) rs1313974028 0.00002
NM_001378454.1(ALMS1):c.6190G>A (p.Asp2064Asn) rs183773481 0.00002
NM_001378454.1(ALMS1):c.7033C>T (p.Arg2345Trp) rs776611154 0.00002
NM_001378454.1(ALMS1):c.7037G>A (p.Arg2346Lys) rs765006341 0.00002
NM_001378454.1(ALMS1):c.7870G>A (p.Ala2624Thr) rs375121795 0.00002
NM_001378454.1(ALMS1):c.8299A>G (p.Lys2767Glu) rs772638313 0.00002
NM_001378454.1(ALMS1):c.82G>A (p.Glu28Lys) rs1670512542 0.00002
NM_001378454.1(ALMS1):c.8462A>G (p.His2821Arg) rs1259827695 0.00002
NM_001378454.1(ALMS1):c.8654G>A (p.Arg2885Gln) rs185447739 0.00002
NM_001378454.1(ALMS1):c.8672G>A (p.Ser2891Asn) rs756101133 0.00002
NM_001378454.1(ALMS1):c.8684G>A (p.Arg2895His) rs755542969 0.00002
NM_001378454.1(ALMS1):c.8882C>T (p.Pro2961Leu) rs781477502 0.00002
NM_001378454.1(ALMS1):c.9050A>G (p.Asn3017Ser) rs768218725 0.00002
NM_001378454.1(ALMS1):c.9055G>A (p.Val3019Met) rs773897748 0.00002
NM_001378454.1(ALMS1):c.9281C>T (p.Ser3094Leu) rs368970124 0.00002
NM_001378454.1(ALMS1):c.9511C>G (p.Pro3171Ala) rs756554048 0.00002
NM_001378454.1(ALMS1):c.1013G>A (p.Arg338His) rs373371896 0.00001
NM_001378454.1(ALMS1):c.10169C>T (p.Ala3390Val) rs905527689 0.00001
NM_001378454.1(ALMS1):c.10214A>T (p.Asp3405Val) rs781411724 0.00001
NM_001378454.1(ALMS1):c.10223C>T (p.Ala3408Val) rs377352853 0.00001
NM_001378454.1(ALMS1):c.10264G>C (p.Glu3422Gln) rs1003992652 0.00001
NM_001378454.1(ALMS1):c.1034A>G (p.Tyr345Cys) rs775233432 0.00001
NM_001378454.1(ALMS1):c.10420C>T (p.Arg3474Cys) rs759337193 0.00001
NM_001378454.1(ALMS1):c.10625A>G (p.Tyr3542Cys) rs761771973 0.00001
NM_001378454.1(ALMS1):c.10652A>G (p.Asn3551Ser) rs868744829 0.00001
NM_001378454.1(ALMS1):c.10862A>G (p.Lys3621Arg) rs1288339942 0.00001
NM_001378454.1(ALMS1):c.10883G>A (p.Arg3628Gln) rs763549947 0.00001
NM_001378454.1(ALMS1):c.10973G>A (p.Arg3658Gln) rs781344338 0.00001
NM_001378454.1(ALMS1):c.10994G>A (p.Gly3665Asp) rs1028879206 0.00001
NM_001378454.1(ALMS1):c.11071G>A (p.Glu3691Lys) rs750422041 0.00001
NM_001378454.1(ALMS1):c.11116T>A (p.Ser3706Thr) rs749624694 0.00001
NM_001378454.1(ALMS1):c.11143A>G (p.Lys3715Glu) rs765505349 0.00001
NM_001378454.1(ALMS1):c.11192G>A (p.Ser3731Asn) rs756136080 0.00001
NM_001378454.1(ALMS1):c.1126A>T (p.Thr376Ser) rs376750978 0.00001
NM_001378454.1(ALMS1):c.11362G>A (p.Ala3788Thr) rs1674982899 0.00001
NM_001378454.1(ALMS1):c.11393G>A (p.Arg3798Lys) rs1006564458 0.00001
NM_001378454.1(ALMS1):c.11477A>G (p.His3826Arg) rs371105298 0.00001
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn) rs767078704 0.00001
NM_001378454.1(ALMS1):c.11764A>G (p.Asn3922Asp) rs45486496 0.00001
NM_001378454.1(ALMS1):c.11797C>T (p.Arg3933Cys) rs1356118595 0.00001
NM_001378454.1(ALMS1):c.122T>C (p.Val41Ala) rs1558624684 0.00001
NM_001378454.1(ALMS1):c.12362+5G>C rs771226996 0.00001
NM_001378454.1(ALMS1):c.12376C>T (p.Leu4126Phe) rs746923966 0.00001
NM_001378454.1(ALMS1):c.12425A>G (p.Tyr4142Cys) rs775032572 0.00001
NM_001378454.1(ALMS1):c.12473A>T (p.Asn4158Ile) rs752828644 0.00001
NM_001378454.1(ALMS1):c.1247A>G (p.Gln416Arg) rs777072028 0.00001
NM_001378454.1(ALMS1):c.136G>A (p.Val46Met) rs1057524276 0.00001
NM_001378454.1(ALMS1):c.1399A>T (p.Thr467Ser) rs1472140505 0.00001
NM_001378454.1(ALMS1):c.142G>A (p.Glu48Lys) rs751415466 0.00001
NM_001378454.1(ALMS1):c.1432+5G>A rs755613962 0.00001
NM_001378454.1(ALMS1):c.1651A>T (p.Thr551Ser) rs1271418277 0.00001
NM_001378454.1(ALMS1):c.1852A>G (p.Thr618Ala) rs762184977 0.00001
NM_001378454.1(ALMS1):c.1927G>A (p.Glu643Lys) rs769734500 0.00001
NM_001378454.1(ALMS1):c.200G>A (p.Ser67Asn) rs776932244 0.00001
NM_001378454.1(ALMS1):c.211G>A (p.Glu71Lys) rs757131983 0.00001
NM_001378454.1(ALMS1):c.2182C>A (p.Gln728Lys) rs1671859807 0.00001
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=) rs572605877 0.00001
NM_001378454.1(ALMS1):c.2237C>T (p.Thr746Ile) rs1313026459 0.00001
NM_001378454.1(ALMS1):c.2396A>G (p.Gln799Arg) rs530083993 0.00001
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala) rs772260271 0.00001
NM_001378454.1(ALMS1):c.2450T>C (p.Leu817Pro) rs751189686 0.00001
NM_001378454.1(ALMS1):c.251C>G (p.Pro84Arg) rs1025964615 0.00001
NM_001378454.1(ALMS1):c.2642C>T (p.Thr881Ile) rs1186106599 0.00001
NM_001378454.1(ALMS1):c.266C>T (p.Pro89Leu) rs989191437 0.00001
NM_001378454.1(ALMS1):c.2840C>T (p.Thr947Ile) rs576877900 0.00001
NM_001378454.1(ALMS1):c.3013C>T (p.His1005Tyr) rs1039388814 0.00001
NM_001378454.1(ALMS1):c.3062A>T (p.Tyr1021Phe) rs574757598 0.00001
NM_001378454.1(ALMS1):c.3477G>T (p.Leu1159Phe) rs575644902 0.00001
NM_001378454.1(ALMS1):c.3563T>C (p.Leu1188Pro) rs745802005 0.00001
NM_001378454.1(ALMS1):c.3703A>G (p.Thr1235Ala) rs765519585 0.00001
NM_001378454.1(ALMS1):c.3914A>G (p.His1305Arg) rs1394932968 0.00001
NM_001378454.1(ALMS1):c.3980C>T (p.Pro1327Leu) rs764135588 0.00001
NM_001378454.1(ALMS1):c.3982A>G (p.Ile1328Val) rs1045211044 0.00001
NM_001378454.1(ALMS1):c.400A>G (p.Asn134Asp) rs780314593 0.00001
NM_001378454.1(ALMS1):c.4241C>G (p.Pro1414Arg) rs758836829 0.00001
NM_001378454.1(ALMS1):c.4286A>G (p.Tyr1429Cys) rs763136053 0.00001
NM_001378454.1(ALMS1):c.430C>T (p.Arg144Trp) rs748293128 0.00001
NM_001378454.1(ALMS1):c.4370T>C (p.Val1457Ala) rs1671922685 0.00001
NM_001378454.1(ALMS1):c.4436G>A (p.Gly1479Glu) rs756575234 0.00001
NM_001378454.1(ALMS1):c.4450G>A (p.Val1484Ile) rs779113815 0.00001
NM_001378454.1(ALMS1):c.4454T>C (p.Ile1485Thr) rs564400636 0.00001
NM_001378454.1(ALMS1):c.465G>C (p.Trp155Cys) rs1414087888 0.00001
NM_001378454.1(ALMS1):c.4691C>G (p.Pro1564Arg) rs773841585 0.00001
NM_001378454.1(ALMS1):c.4758A>G (p.Pro1586=) rs778600773 0.00001
NM_001378454.1(ALMS1):c.4788A>C (p.Lys1596Asn) rs925686650 0.00001
NM_001378454.1(ALMS1):c.4829T>C (p.Ile1610Thr) rs757356524 0.00001
NM_001378454.1(ALMS1):c.4856C>T (p.Ala1619Val) rs1085307684 0.00001
NM_001378454.1(ALMS1):c.4916A>C (p.Lys1639Thr) rs1187577872 0.00001
NM_001378454.1(ALMS1):c.4942C>A (p.Pro1648Thr) rs754804407 0.00001
NM_001378454.1(ALMS1):c.4985C>G (p.Ser1662Cys) rs776002916 0.00001
NM_001378454.1(ALMS1):c.5323G>C (p.Asp1775His) rs747341054 0.00001
NM_001378454.1(ALMS1):c.539A>T (p.Glu180Val) rs1473661013 0.00001
NM_001378454.1(ALMS1):c.5484G>T (p.Leu1828Phe) rs376996058 0.00001
NM_001378454.1(ALMS1):c.5608G>A (p.Glu1870Lys) rs372714431 0.00001
NM_001378454.1(ALMS1):c.565T>C (p.Ser189Pro) rs760035952 0.00001
NM_001378454.1(ALMS1):c.5683T>A (p.Ser1895Thr) rs1288519568 0.00001
NM_001378454.1(ALMS1):c.5758G>A (p.Val1920Ile) rs373489525 0.00001
NM_001378454.1(ALMS1):c.5767G>C (p.Val1923Leu) rs772665115 0.00001
NM_001378454.1(ALMS1):c.5891C>A (p.Ala1964Asp) rs1196949061 0.00001
NM_001378454.1(ALMS1):c.6017A>G (p.Asp2006Gly) rs1209226433 0.00001
NM_001378454.1(ALMS1):c.6020A>G (p.Gln2007Arg) rs1047348249 0.00001
NM_001378454.1(ALMS1):c.6121C>G (p.Gln2041Glu) rs780824087 0.00001
NM_001378454.1(ALMS1):c.6166A>G (p.Ile2056Val) rs747108462 0.00001
NM_001378454.1(ALMS1):c.6350A>G (p.Asp2117Gly) rs1671977745 0.00001
NM_001378454.1(ALMS1):c.6415C>T (p.Pro2139Ser) rs772858451 0.00001
NM_001378454.1(ALMS1):c.6477A>T (p.Arg2159Ser) rs772943318 0.00001
NM_001378454.1(ALMS1):c.6496C>G (p.Leu2166Val) rs1200119538 0.00001
NM_001378454.1(ALMS1):c.6506C>T (p.Ser2169Leu) rs368833782 0.00001
NM_001378454.1(ALMS1):c.6524C>T (p.Ala2175Val) rs549259627 0.00001
NM_001378454.1(ALMS1):c.6584A>T (p.His2195Leu) rs1671984408 0.00001
NM_001378454.1(ALMS1):c.6639C>G (p.Asp2213Glu) rs769322538 0.00001
NM_001378454.1(ALMS1):c.6790A>G (p.Thr2264Ala) rs772620985 0.00001
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln) rs200979896 0.00001
NM_001378454.1(ALMS1):c.7087C>G (p.Leu2363Val) rs1304430967 0.00001
NM_001378454.1(ALMS1):c.7091A>C (p.Gln2364Pro) rs370992564 0.00001
NM_001378454.1(ALMS1):c.7376G>C (p.Ser2459Thr) rs778055498 0.00001
NM_001378454.1(ALMS1):c.739A>G (p.Ser247Gly) rs1055600080 0.00001
NM_001378454.1(ALMS1):c.7444C>A (p.His2482Asn) rs1406670493 0.00001
NM_001378454.1(ALMS1):c.7526G>A (p.Arg2509Gln) rs551433143 0.00001
NM_001378454.1(ALMS1):c.7559A>G (p.Asn2520Ser) rs377085127 0.00001
NM_001378454.1(ALMS1):c.7676G>T (p.Gly2559Val) rs1248528012 0.00001
NM_001378454.1(ALMS1):c.7684A>G (p.Ser2562Gly) rs772417159 0.00001
NM_001378454.1(ALMS1):c.7697T>C (p.Met2566Thr) rs373385088 0.00001
NM_001378454.1(ALMS1):c.7735A>T (p.Ile2579Phe) rs748760764 0.00001
NM_001378454.1(ALMS1):c.776A>G (p.Asp259Gly) rs369122370 0.00001
NM_001378454.1(ALMS1):c.7788A>C (p.Gln2596His) rs752127434 0.00001
NM_001378454.1(ALMS1):c.7840A>G (p.Arg2614Gly) rs769890820 0.00001
NM_001378454.1(ALMS1):c.8079A>G (p.Glu2693=) rs1323302393 0.00001
NM_001378454.1(ALMS1):c.8096C>T (p.Ser2699Leu) rs769405720 0.00001
NM_001378454.1(ALMS1):c.8111C>T (p.Ser2704Phe) rs761272792 0.00001
NM_001378454.1(ALMS1):c.8138C>T (p.Thr2713Ile) rs1672944551 0.00001
NM_001378454.1(ALMS1):c.8339C>T (p.Ser2780Leu) rs761903209 0.00001
NM_001378454.1(ALMS1):c.8430A>G (p.Lys2810=) rs1483404753 0.00001
NM_001378454.1(ALMS1):c.8483C>A (p.Ala2828Glu) rs751296181 0.00001
NM_001378454.1(ALMS1):c.8512A>G (p.Ile2838Val) rs780558004 0.00001
NM_001378454.1(ALMS1):c.8673C>A (p.Ser2891Arg) rs755823751 0.00001
NM_001378454.1(ALMS1):c.8688A>G (p.Ala2896=) rs1338132238 0.00001
NM_001378454.1(ALMS1):c.873T>G (p.Ser291Arg) rs747529881 0.00001
NM_001378454.1(ALMS1):c.9004A>C (p.Lys3002Gln) rs373492071 0.00001
NM_001378454.1(ALMS1):c.9026A>G (p.Asn3009Ser) rs757198941 0.00001
NM_001378454.1(ALMS1):c.9377A>G (p.Gln3126Arg) rs1553409872 0.00001
NM_001378454.1(ALMS1):c.9382G>A (p.Val3128Ile) rs764937531 0.00001
NM_001378454.1(ALMS1):c.9392C>T (p.Ser3131Phe) rs144588413 0.00001
NM_001378454.1(ALMS1):c.9461C>G (p.Thr3154Ser) rs1377763374 0.00001
NM_001378454.1(ALMS1):c.9509A>G (p.Asn3170Ser) rs1396386580 0.00001
NM_001378454.1(ALMS1):c.951A>C (p.Gln317His) rs1233763940 0.00001
NM_001378454.1(ALMS1):c.9637C>G (p.Leu3213Val) rs575305602 0.00001
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe) rs771768835 0.00001
NM_001378454.1(ALMS1):c.9674G>A (p.Arg3225His) rs765685958 0.00001
NM_001378454.1(ALMS1):c.9760A>C (p.Thr3254Pro) rs1553412796 0.00001
NM_001378454.1(ALMS1):c.9782-13T>G rs530508947 0.00001
NM_001378454.1(ALMS1):c.9809C>T (p.Pro3270Leu) rs551032553 0.00001
NM_001378454.1(ALMS1):c.9946G>A (p.Val3316Met) rs773202952 0.00001
NM_001378454.1(ALMS1):c.1003G>T (p.Asp335Tyr) rs779002116
NM_001378454.1(ALMS1):c.10061T>C (p.Leu3354Ser) rs2104035328
NM_001378454.1(ALMS1):c.10130A>G (p.Lys3377Arg) rs750953341
NM_001378454.1(ALMS1):c.1020T>A (p.Asp340Glu)
NM_001378454.1(ALMS1):c.10226C>G (p.Ala3409Gly) rs777417815
NM_001378454.1(ALMS1):c.10284C>G (p.Asp3428Glu) rs2104063874
NM_001378454.1(ALMS1):c.10285A>T (p.Thr3429Ser)
NM_001378454.1(ALMS1):c.10454A>G (p.His3485Arg) rs2104103721
NM_001378454.1(ALMS1):c.10462G>C (p.Val3488Leu) rs1057523167
NM_001378454.1(ALMS1):c.10514T>C (p.Val3505Ala) rs2466443322
NM_001378454.1(ALMS1):c.10552C>T (p.His3518Tyr) rs2104104161
NM_001378454.1(ALMS1):c.10558G>C (p.Asp3520His) rs1403094265
NM_001378454.1(ALMS1):c.10709A>G (p.Tyr3570Cys) rs2104104820
NM_001378454.1(ALMS1):c.10723G>A (p.Gly3575Arg) rs752099349
NM_001378454.1(ALMS1):c.10735G>C (p.Asp3579His) rs1450650278
NM_001378454.1(ALMS1):c.10772C>T (p.Thr3591Ile) rs773091397
NM_001378454.1(ALMS1):c.10823G>T (p.Arg3608Leu)
NM_001378454.1(ALMS1):c.10958A>G (p.Asp3653Gly) rs2466445415
NM_001378454.1(ALMS1):c.11140A>G (p.Ile3714Val) rs370536187
NM_001378454.1(ALMS1):c.11254A>C (p.Asn3752His) rs777251736
NM_001378454.1(ALMS1):c.11309A>G (p.Asp3770Gly) rs770147613
NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val) rs771595125
NM_001378454.1(ALMS1):c.11324T>A (p.Leu3775Gln) rs2466447066
NM_001378454.1(ALMS1):c.11455T>A (p.Tyr3819Asn) rs761539239
NM_001378454.1(ALMS1):c.11563A>T (p.Ile3855Phe)
NM_001378454.1(ALMS1):c.1174C>A (p.Arg392Ser) rs3813227
NM_001378454.1(ALMS1):c.11798G>T (p.Arg3933Leu) rs45576434
NM_001378454.1(ALMS1):c.11836A>G (p.Arg3946Gly)
NM_001378454.1(ALMS1):c.1220C>G (p.Ala407Gly) rs768588695
NM_001378454.1(ALMS1):c.123_124delinsCA (p.Val42Ile) rs1670514979
NM_001378454.1(ALMS1):c.12478C>A (p.Leu4160Ile) rs1675895846
NM_001378454.1(ALMS1):c.1258G>A (p.Glu420Lys)
NM_001378454.1(ALMS1):c.1283G>A (p.Gly428Asp)
NM_001378454.1(ALMS1):c.1343C>G (p.Thr448Arg) rs774335945
NM_001378454.1(ALMS1):c.1349A>G (p.Glu450Gly)
NM_001378454.1(ALMS1):c.1352C>T (p.Ser451Leu) rs540547127
NM_001378454.1(ALMS1):c.1466C>G (p.Thr489Ser)
NM_001378454.1(ALMS1):c.1499_1500insGGG (p.Thr500_Pro501insGly) rs1180308461
NM_001378454.1(ALMS1):c.1588A>C (p.Thr530Pro) rs778268073
NM_001378454.1(ALMS1):c.161T>G (p.Leu54Trp)
NM_001378454.1(ALMS1):c.165C>G (p.Asp55Glu) rs779615407
NM_001378454.1(ALMS1):c.1660G>C (p.Val554Leu) rs1558647450
NM_001378454.1(ALMS1):c.1724_1725delinsCTAGT (p.His575delinsProSer) rs1064795650
NM_001378454.1(ALMS1):c.1735G>A (p.Gly579Arg)
NM_001378454.1(ALMS1):c.173C>T (p.Ser58Phe)
NM_001378454.1(ALMS1):c.1778A>G (p.His593Arg) rs2103772175
NM_001378454.1(ALMS1):c.179A>G (p.Tyr60Cys) rs2465971087
NM_001378454.1(ALMS1):c.1874_1876delinsAAA (p.Arg625_Glu626delinsLysLys) rs2103772611
NM_001378454.1(ALMS1):c.1983A>G (p.Ile661Met)
NM_001378454.1(ALMS1):c.2015_2016delinsGT (p.Val672Gly) rs2466093153
NM_001378454.1(ALMS1):c.2057G>A (p.Gly686Asp) rs761213863
NM_001378454.1(ALMS1):c.2087C>T (p.Ser696Leu)
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.2140A>G (p.Thr714Ala) rs2103773812
NM_001378454.1(ALMS1):c.2179CAA[1] (p.Gln728del) rs1553403420
NM_001378454.1(ALMS1):c.220_228del (p.Glu74_Ala76del)
NM_001378454.1(ALMS1):c.2217T>G (p.Thr739=) rs2103774244
NM_001378454.1(ALMS1):c.2403T>C (p.Thr801=) rs369159368
NM_001378454.1(ALMS1):c.2492C>G (p.Pro831Arg)
NM_001378454.1(ALMS1):c.2535C>G (p.Asp845Glu) rs77517267
NM_001378454.1(ALMS1):c.2678C>T (p.Pro893Leu) rs1671874349
NM_001378454.1(ALMS1):c.2683_2685del (p.Asp895del) rs763288832
NM_001378454.1(ALMS1):c.2707G>C (p.Ala903Pro)
NM_001378454.1(ALMS1):c.2848G>T (p.Val950Leu) rs370733145
NM_001378454.1(ALMS1):c.3047A>C (p.Glu1016Ala) rs1085307601
NM_001378454.1(ALMS1):c.3089C>T (p.Ser1030Leu)
NM_001378454.1(ALMS1):c.3127C>T (p.Pro1043Ser) rs376987487
NM_001378454.1(ALMS1):c.3143G>A (p.Ser1048Asn) rs543597396
NM_001378454.1(ALMS1):c.3245C>T (p.Pro1082Leu)
NM_001378454.1(ALMS1):c.3275T>C (p.Val1092Ala) rs2466097489
NM_001378454.1(ALMS1):c.338C>T (p.Thr113Ile) rs1417754706
NM_001378454.1(ALMS1):c.3413C>T (p.Thr1138Ile) rs1671892972
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile) rs752342634
NM_001378454.1(ALMS1):c.3502G>A (p.Ala1168Thr)
NM_001378454.1(ALMS1):c.3574T>G (p.Tyr1192Asp) rs1553403697
NM_001378454.1(ALMS1):c.3596G>A (p.Gly1199Asp) rs1572934110
NM_001378454.1(ALMS1):c.36GGA[4] (p.Glu20_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[5] (p.Glu21_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[7] (p.Glu23_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.3740T>C (p.Ile1247Thr) rs2466099240
NM_001378454.1(ALMS1):c.3799G>T (p.Val1267Phe) rs770278707
NM_001378454.1(ALMS1):c.3911G>A (p.Ser1304Asn) rs1188032734
NM_001378454.1(ALMS1):c.3933G>C (p.Lys1311Asn)
NM_001378454.1(ALMS1):c.4036C>G (p.Gln1346Glu) rs775149898
NM_001378454.1(ALMS1):c.4124C>A (p.Thr1375Asn)
NM_001378454.1(ALMS1):c.4150C>A (p.His1384Asn) rs1228297685
NM_001378454.1(ALMS1):c.4170T>G (p.Ile1390Met) rs1671916265
NM_001378454.1(ALMS1):c.4301_4302inv (p.Lys1434Thr)
NM_001378454.1(ALMS1):c.4366T>G (p.Ser1456Ala)
NM_001378454.1(ALMS1):c.4415C>A (p.Thr1472Asn)
NM_001378454.1(ALMS1):c.4510G>T (p.Val1504Phe)
NM_001378454.1(ALMS1):c.4528G>A (p.Gly1510Ser)
NM_001378454.1(ALMS1):c.4547C>T (p.Pro1516Leu) rs2466102006
NM_001378454.1(ALMS1):c.4587G>C (p.Lys1529Asn)
NM_001378454.1(ALMS1):c.458A>G (p.Glu153Gly)
NM_001378454.1(ALMS1):c.4626A>C (p.Gln1542His) rs201603580
NM_001378454.1(ALMS1):c.46G>A (p.Glu16Lys) rs1174023229
NM_001378454.1(ALMS1):c.4729C>T (p.Pro1577Ser) rs2466102580
NM_001378454.1(ALMS1):c.4783C>G (p.Leu1595Val)
NM_001378454.1(ALMS1):c.4824_4826del (p.Asp1609del) rs1057518311
NM_001378454.1(ALMS1):c.4945G>A (p.Gly1649Arg) rs2466103370
NM_001378454.1(ALMS1):c.4978G>C (p.Val1660Leu) rs2103784697
NM_001378454.1(ALMS1):c.5006G>T (p.Gly1669Val) rs267599447
NM_001378454.1(ALMS1):c.5027A>G (p.Gln1676Arg) rs865896282
NM_001378454.1(ALMS1):c.5059_5061delinsAAG (p.Glu1687Lys) rs2103784975
NM_001378454.1(ALMS1):c.5093A>G (p.Asp1698Gly)
NM_001378454.1(ALMS1):c.5099AGA[1] (p.Lys1701del) rs1671942155
NM_001378454.1(ALMS1):c.5103G>C (p.Lys1701Asn) rs2103785098
NM_001378454.1(ALMS1):c.5195C>T (p.Thr1732Ile) rs2103785499
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu) rs962844498
NM_001378454.1(ALMS1):c.5251_5391del (p.Leu1751_Gly1797del) rs2103785632
NM_001378454.1(ALMS1):c.5312A>G (p.Gln1771Arg)
NM_001378454.1(ALMS1):c.5351A>C (p.Lys1784Thr)
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile) rs1131691296
NM_001378454.1(ALMS1):c.5408C>T (p.Ser1803Phe)
NM_001378454.1(ALMS1):c.5417A>C (p.Tyr1806Ser) rs374046216
NM_001378454.1(ALMS1):c.5422C>T (p.His1808Tyr) rs1572936601
NM_001378454.1(ALMS1):c.5437A>G (p.Ile1813Val)
NM_001378454.1(ALMS1):c.5453G>A (p.Arg1818Gln) rs200925575
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu) rs200925575
NM_001378454.1(ALMS1):c.54_60delinsA (p.Glu27_Glu28del) rs2465970158
NM_001378454.1(ALMS1):c.5539C>A (p.Pro1847Thr) rs752756030
NM_001378454.1(ALMS1):c.55G>A (p.Glu19Lys) rs939208094
NM_001378454.1(ALMS1):c.5665C>G (p.Gln1889Glu) rs2103787285
NM_001378454.1(ALMS1):c.5668A>G (p.Ile1890Val)
NM_001378454.1(ALMS1):c.5767G>A (p.Val1923Ile) rs772665115
NM_001378454.1(ALMS1):c.5796G>T (p.Glu1932Asp) rs2466106461
NM_001378454.1(ALMS1):c.5818T>G (p.Tyr1940Asp) rs2466106541
NM_001378454.1(ALMS1):c.5827C>A (p.Arg1943Ser) rs370398704
NM_001378454.1(ALMS1):c.5828G>T (p.Arg1943Leu) rs146669152
NM_001378454.1(ALMS1):c.5838G>T (p.Lys1946Asn)
NM_001378454.1(ALMS1):c.5917C>T (p.Pro1973Ser) rs775731258
NM_001378454.1(ALMS1):c.6031T>C (p.Phe2011Leu)
NM_001378454.1(ALMS1):c.6085A>G (p.Thr2029Ala) rs759478895
NM_001378454.1(ALMS1):c.6194G>A (p.Arg2065Lys) rs2103789247
NM_001378454.1(ALMS1):c.6215T>C (p.Leu2072Pro) rs1382952433
NM_001378454.1(ALMS1):c.6455A>G (p.Tyr2152Cys) rs1014759835
NM_001378454.1(ALMS1):c.659G>A (p.Ser220Asn) rs2103710395
NM_001378454.1(ALMS1):c.65_66insAGA (p.Glu28dup) rs1553396148
NM_001378454.1(ALMS1):c.6612G>C (p.Arg2204Ser) rs758379924
NM_001378454.1(ALMS1):c.6661G>A (p.Val2221Met)
NM_001378454.1(ALMS1):c.6811A>G (p.Asn2271Asp) rs1558651314
NM_001378454.1(ALMS1):c.6812A>C (p.Asn2271Thr)
NM_001378454.1(ALMS1):c.6824A>G (p.Lys2275Arg) rs1057518307
NM_001378454.1(ALMS1):c.6833A>G (p.Asn2278Ser) rs767464740
NM_001378454.1(ALMS1):c.6899T>C (p.Val2300Ala) rs1057523384
NM_001378454.1(ALMS1):c.6923C>G (p.Ser2308Cys)
NM_001378454.1(ALMS1):c.6955A>G (p.Arg2319Gly)
NM_001378454.1(ALMS1):c.7013C>A (p.Thr2338Lys) rs373004988
NM_001378454.1(ALMS1):c.7069A>G (p.Thr2357Ala) rs1330152191
NM_001378454.1(ALMS1):c.7093G>A (p.Glu2365Lys) rs1572938591
NM_001378454.1(ALMS1):c.7288A>G (p.Ser2430Gly) rs539112266
NM_001378454.1(ALMS1):c.7391G>A (p.Gly2464Asp) rs779815578
NM_001378454.1(ALMS1):c.7403G>C (p.Ser2468Thr)
NM_001378454.1(ALMS1):c.7447G>A (p.Val2483Met) rs754242152
NM_001378454.1(ALMS1):c.7492G>A (p.Glu2498Lys) rs1057524023
NM_001378454.1(ALMS1):c.7507G>A (p.Ala2503Thr) rs202060439
NM_001378454.1(ALMS1):c.7507G>T (p.Ala2503Ser) rs202060439
NM_001378454.1(ALMS1):c.7541-10T>G
NM_001378454.1(ALMS1):c.7603G>A (p.Asp2535Asn) rs2466115690
NM_001378454.1(ALMS1):c.7676G>A (p.Gly2559Asp) rs1248528012
NM_001378454.1(ALMS1):c.7756T>A (p.Cys2586Ser) rs1485228491
NM_001378454.1(ALMS1):c.7801C>T (p.Pro2601Ser) rs1553409608
NM_001378454.1(ALMS1):c.782C>G (p.Ser261Cys) rs1671339296
NM_001378454.1(ALMS1):c.7994G>T (p.Ser2665Ile)
NM_001378454.1(ALMS1):c.8057C>T (p.Pro2686Leu) rs1269143077
NM_001378454.1(ALMS1):c.8065G>A (p.Val2689Met)
NM_001378454.1(ALMS1):c.8126A>G (p.Lys2709Arg) rs761242664
NM_001378454.1(ALMS1):c.8210C>T (p.Thr2737Ile) rs777171271
NM_001378454.1(ALMS1):c.8224T>G (p.Cys2742Gly) rs774945791
NM_001378454.1(ALMS1):c.8272C>A (p.Gln2758Lys) rs756042345
NM_001378454.1(ALMS1):c.8279C>A (p.Pro2760His)
NM_001378454.1(ALMS1):c.827C>G (p.Ala276Gly)
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala) rs369650940
NM_001378454.1(ALMS1):c.8306C>T (p.Ser2769Phe) rs1060500037
NM_001378454.1(ALMS1):c.8366_8368del (p.Ala2789del)
NM_001378454.1(ALMS1):c.837G>T (p.Gln279His) rs766179893
NM_001378454.1(ALMS1):c.8533A>G (p.Ile2845Val) rs1057524748
NM_001378454.1(ALMS1):c.8593G>A (p.Val2865Ile) rs780429128
NM_001378454.1(ALMS1):c.8663T>C (p.Phe2888Ser)
NM_001378454.1(ALMS1):c.8666A>G (p.Glu2889Gly)
NM_001378454.1(ALMS1):c.872G>T (p.Ser291Ile) rs568470985
NM_001378454.1(ALMS1):c.8756C>G (p.Pro2919Arg) rs1672963053
NM_001378454.1(ALMS1):c.8776C>A (p.Gln2926Lys) rs765779200
NM_001378454.1(ALMS1):c.8809T>G (p.Tyr2937Asp) rs2103893348
NM_001378454.1(ALMS1):c.886T>G (p.Ser296Ala) rs1459506019
NM_001378454.1(ALMS1):c.8902C>G (p.Gln2968Glu) rs758433515
NM_001378454.1(ALMS1):c.895C>G (p.Pro299Ala) rs1349884233
NM_001378454.1(ALMS1):c.9067T>G (p.Ser3023Ala)
NM_001378454.1(ALMS1):c.9133T>C (p.Ser3045Pro) rs1300179474
NM_001378454.1(ALMS1):c.9170_9190dup (p.Ser3057_Thr3063dup) rs1455775922
NM_001378454.1(ALMS1):c.9320_9323delinsAAGG (p.Val3107_Ala3108delinsGluGly)
NM_001378454.1(ALMS1):c.9578C>T (p.Ser3193Phe) rs2466303174
NM_001378454.1(ALMS1):c.9602T>A (p.Val3201Asp)
NM_001378454.1(ALMS1):c.9607C>G (p.Gln3203Glu) rs956247442
NM_001378454.1(ALMS1):c.9610A>T (p.Ile3204Leu)
NM_001378454.1(ALMS1):c.9633G>T (p.Lys3211Asn) rs373013570
NM_001378454.1(ALMS1):c.9673C>T (p.Arg3225Cys) rs200215551
NM_001378454.1(ALMS1):c.9695C>T (p.Pro3232Leu)
NM_001378454.1(ALMS1):c.9715A>G (p.Lys3239Glu) rs2103962480
NM_001378454.1(ALMS1):c.977C>A (p.Ser326Tyr)
NM_001378454.1(ALMS1):c.9782G>A (p.Gly3261Asp) rs2103991983
NM_001378454.1(ALMS1):c.9856C>G (p.Pro3286Ala) rs762224373
NM_001378454.1(ALMS1):c.9875A>C (p.Lys3292Thr) rs959966297
NM_001378454.1(ALMS1):c.9917A>T (p.Asp3306Val) rs746138259
NM_001378454.1(ALMS1):c.9956C>G (p.Thr3319Arg)
NM_001378454.1(ALMS1):c.9956C>T (p.Thr3319Ile) rs2104034941

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