ClinVar Miner

List of variants in gene ALMS1 reported by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 591
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.2015T>G (p.Val672Gly) rs2037814 0.87820
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901 0.49457
NM_001378454.1(ALMS1):c.6336T>A (p.Ser2112Arg) rs6724782 0.40522
NM_001378454.1(ALMS1):c.5626A>G (p.Ile1876Val) rs6546838 0.40153
NM_001378454.1(ALMS1):c.8481G>T (p.Arg2827Ser) rs2056486 0.39967
NM_001378454.1(ALMS1):c.8570A>G (p.Asn2857Ser) rs10193972 0.39950
NM_001378454.1(ALMS1):c.4244G>C (p.Gly1415Ala) rs6546837 0.39736
NM_001378454.1(ALMS1):c.4179A>G (p.Gln1393=) rs6546836 0.38173
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro) rs6546839 0.38002
NM_001378454.1(ALMS1):c.9561C>T (p.Thr3187=) rs11884776 0.30410
NM_001378454.1(ALMS1):c.6212T>C (p.Ile2071Thr) rs10496192 0.13807
NM_001378454.1(ALMS1):c.7724G>A (p.Ser2575Asn) rs3820700 0.13432
NM_001378454.1(ALMS1):c.8017G>C (p.Asp2673His) rs2017116 0.13007
NM_001378454.1(ALMS1):c.3894A>G (p.Gln1298=) rs112034360 0.06109
NM_001378454.1(ALMS1):c.9782-9C>T rs10199680 0.03656
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293 0.02293
NM_001378454.1(ALMS1):c.5786G>A (p.Arg1929Gln) rs17009061 0.02260
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn) rs28730853 0.02251
NM_001378454.1(ALMS1):c.10209T>A (p.Thr3403=) rs34617744 0.02246
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702 0.02105
NM_001378454.1(ALMS1):c.11523G>A (p.Glu3841=) rs35760114 0.02099
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108 0.01785
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195 0.01772
NM_001378454.1(ALMS1):c.5169A>G (p.Gln1723=) rs75434052 0.01769
NM_001378454.1(ALMS1):c.10335C>T (p.Pro3445=) rs78108069 0.01749
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_001378454.1(ALMS1):c.2319G>A (p.Leu773=) rs28730851 0.01669
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187 0.01638
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849 0.01527
NM_001378454.1(ALMS1):c.1899A>G (p.Gln633=) rs116033693 0.01292
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser) rs77555300 0.01077
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319 0.01071
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=) rs62151609 0.00915
NM_001378454.1(ALMS1):c.2661A>G (p.Val887=) rs76266696 0.00818
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly) rs28730855 0.00515
NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=) rs143885319 0.00467
NM_001378454.1(ALMS1):c.8742A>G (p.Val2914=) rs142611294 0.00466
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963 0.00429
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370 0.00429
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_001378454.1(ALMS1):c.4605A>G (p.Gln1535=) rs144720929 0.00412
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00296
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=) rs201446579 0.00245
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.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser) rs142022233 0.00158
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=) rs147831309 0.00121
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=) rs183390773 0.00119
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=) rs45445398 0.00114
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser) rs199874928 0.00078
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly) rs17848880 0.00077
NM_001378454.1(ALMS1):c.8919G>A (p.Ala2973=) rs116854981 0.00076
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263 0.00071
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys) rs201816596 0.00068
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.4134T>C (p.Ser1378=) rs200491758 0.00066
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro) rs202227966 0.00058
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809 0.00057
NM_001378454.1(ALMS1):c.8942A>G (p.Asn2981Ser) rs200390821 0.00057
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys) rs201252375 0.00053
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 0.00045
NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp) rs201874722 0.00044
NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala) rs201804994 0.00039
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.8359A>G (p.Ile2787Val) rs200075429 0.00036
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile) rs373211307 0.00032
NM_001378454.1(ALMS1):c.9617C>T (p.Thr3206Ile) rs201624771 0.00029
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.9976G>C (p.Ala3326Pro) rs201213079 0.00026
NM_001378454.1(ALMS1):c.8765T>C (p.Ile2922Thr) rs201738475 0.00024
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=) rs371329585 0.00023
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp) rs374663067 0.00022
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro) rs201517720 0.00022
NM_001378454.1(ALMS1):c.11772T>C (p.Asp3924=) rs201924342 0.00021
NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu) rs766187468 0.00021
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=) rs201478438 0.00021
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) rs199922877 0.00020
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr) rs201028172 0.00019
NM_001378454.1(ALMS1):c.3379C>T (p.Pro1127Ser) rs182127619 0.00019
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg) rs373366352 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.8416T>G (p.Phe2806Val) rs763332859 0.00019
NM_001378454.1(ALMS1):c.8644C>T (p.Leu2882Phe) rs373944325 0.00019
NM_001378454.1(ALMS1):c.2893T>C (p.Tyr965His) rs201180147 0.00018
NM_001378454.1(ALMS1):c.649A>G (p.Ile217Val) rs200944504 0.00018
NM_001378454.1(ALMS1):c.74_75insGG (p.Glu27fs) rs1553396120 0.00018
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877 0.00017
NM_001378454.1(ALMS1):c.11328C>T (p.His3776=) rs45596541 0.00016
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys) rs200293447 0.00015
NM_001378454.1(ALMS1):c.6145T>A (p.Ser2049Thr) rs17848882 0.00015
NM_001378454.1(ALMS1):c.6812A>G (p.Asn2271Ser) rs111659663 0.00015
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu) rs199604280 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.356A>G (p.Gln119Arg) rs371516347 0.00014
NM_001378454.1(ALMS1):c.4259G>T (p.Gly1420Val) rs1445492577 0.00014
NM_001378454.1(ALMS1):c.5466T>A (p.His1822Gln) rs201677365 0.00014
NM_001378454.1(ALMS1):c.10218C>T (p.Ser3406=) rs754938453 0.00013
NM_001378454.1(ALMS1):c.11213G>A (p.Arg3738Gln) rs200378498 0.00013
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu) rs376989302 0.00013
NM_001378454.1(ALMS1):c.6361G>C (p.Val2121Leu) rs200368564 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.11689G>A (p.Gly3897Ser) rs187887110 0.00012
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala) rs199649563 0.00012
NM_001378454.1(ALMS1):c.1701A>G (p.Thr567=) rs184736482 0.00011
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.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.11033G>A (p.Arg3678Gln) rs371007945 0.00010
NM_001378454.1(ALMS1):c.1867T>C (p.Ser623Pro) rs767987501 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.4249C>T (p.Arg1417Trp) rs199615803 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.11017C>A (p.Leu3673Ile) rs549757247 0.00009
NM_001378454.1(ALMS1):c.11867A>G (p.His3956Arg) rs553786370 0.00009
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=) rs1052804740 0.00009
NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu) rs914898490 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.2493C>T (p.Pro831=) rs561060460 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.10354A>G (p.Asn3452Asp) rs573748379 0.00006
NM_001378454.1(ALMS1):c.10704A>C (p.Arg3568Ser) rs758987316 0.00006
NM_001378454.1(ALMS1):c.12330C>G (p.Ile4110Met) rs375524122 0.00006
NM_001378454.1(ALMS1):c.12389A>G (p.Gln4130Arg) rs371587051 0.00006
NM_001378454.1(ALMS1):c.1470A>G (p.Gln490=) rs769982352 0.00006
NM_001378454.1(ALMS1):c.1834A>C (p.Thr612Pro) rs775286973 0.00006
NM_001378454.1(ALMS1):c.3038A>G (p.Tyr1013Cys) rs371893544 0.00006
NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His) rs181507134 0.00006
NM_001378454.1(ALMS1):c.3568A>G (p.Thr1190Ala) rs772287164 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.4731G>A (p.Pro1577=) rs747216050 0.00006
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys) rs370398704 0.00006
NM_001378454.1(ALMS1):c.5835G>A (p.Glu1945=) rs529600949 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.7367T>C (p.Ile2456Thr) rs894421376 0.00006
NM_001378454.1(ALMS1):c.757C>T (p.Pro253Ser) rs368153355 0.00006
NM_001378454.1(ALMS1):c.7719A>G (p.Val2573=) rs561565809 0.00006
NM_001378454.1(ALMS1):c.7846C>T (p.Arg2616Trp) rs145383239 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.11548-3T>C rs555547573 0.00005
NM_001378454.1(ALMS1):c.12310A>G (p.Ile4104Val) rs780286947 0.00005
NM_001378454.1(ALMS1):c.2629A>G (p.Asn877Asp) rs776351580 0.00005
NM_001378454.1(ALMS1):c.3088T>A (p.Ser1030Thr) rs1023974968 0.00005
NM_001378454.1(ALMS1):c.4173C>A (p.Phe1391Leu) rs370406004 0.00005
NM_001378454.1(ALMS1):c.5074C>T (p.Pro1692Ser) rs764039432 0.00005
NM_001378454.1(ALMS1):c.558C>T (p.Asp186=) rs370228166 0.00005
NM_001378454.1(ALMS1):c.6299A>T (p.Lys2100Ile) rs373286582 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.9733G>A (p.Ala3245Thr) rs200432874 0.00005
NM_001378454.1(ALMS1):c.9769C>T (p.Arg3257Cys) rs373998843 0.00005
NM_001378454.1(ALMS1):c.10038C>T (p.Ser3346=) rs375436336 0.00004
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter) rs772624348 0.00004
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312 0.00004
NM_001378454.1(ALMS1):c.10858A>C (p.Arg3620=) rs201598829 0.00004
NM_001378454.1(ALMS1):c.11032C>T (p.Arg3678Trp) rs766771102 0.00004
NM_001378454.1(ALMS1):c.11293A>G (p.Ile3765Val) rs758062371 0.00004
NM_001378454.1(ALMS1):c.11413C>T (p.Arg3805Ter) rs376091780 0.00004
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=) rs750087396 0.00004
NM_001378454.1(ALMS1):c.1339C>G (p.Pro447Ala) rs377283762 0.00004
NM_001378454.1(ALMS1):c.1815T>G (p.Pro605=) rs983651117 0.00004
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp) rs531859344 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.435T>C (p.Gly145=) rs541827475 0.00004
NM_001378454.1(ALMS1):c.4448T>C (p.Ile1483Thr) rs370271775 0.00004
NM_001378454.1(ALMS1):c.451-5T>G rs774098604 0.00004
NM_001378454.1(ALMS1):c.5267C>G (p.Ser1756Cys) rs761486372 0.00004
NM_001378454.1(ALMS1):c.5444C>T (p.Ser1815Phe) rs528863432 0.00004
NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu) rs191286546 0.00004
NM_001378454.1(ALMS1):c.6926C>T (p.Thr2309Met) rs147001219 0.00004
NM_001378454.1(ALMS1):c.7276T>G (p.Cys2426Gly) rs549778430 0.00004
NM_001378454.1(ALMS1):c.7445A>G (p.His2482Arg) rs199698329 0.00004
NM_001378454.1(ALMS1):c.7525C>T (p.Arg2509Trp) rs34183407 0.00004
NM_001378454.1(ALMS1):c.7577G>A (p.Gly2526Glu) rs201654702 0.00004
NM_001378454.1(ALMS1):c.7812C>G (p.Phe2604Leu) rs201739856 0.00004
NM_001378454.1(ALMS1):c.7816T>C (p.Ser2606Pro) rs532551687 0.00004
NM_001378454.1(ALMS1):c.8109G>A (p.Pro2703=) rs759983484 0.00004
NM_001378454.1(ALMS1):c.8711A>C (p.His2904Pro) rs370508584 0.00004
NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln) rs778162209 0.00004
NM_001378454.1(ALMS1):c.9263A>G (p.His3088Arg) rs376083621 0.00004
NM_001378454.1(ALMS1):c.9381C>T (p.Val3127=) rs754743943 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.10985A>G (p.Glu3662Gly) rs377418428 0.00003
NM_001378454.1(ALMS1):c.11332A>G (p.Arg3778Gly) rs773130069 0.00003
NM_001378454.1(ALMS1):c.11365C>T (p.Arg3789Trp) rs752623561 0.00003
NM_001378454.1(ALMS1):c.11798G>A (p.Arg3933His) rs45576434 0.00003
NM_001378454.1(ALMS1):c.11854A>G (p.Lys3952Glu) rs771282076 0.00003
NM_001378454.1(ALMS1):c.12350A>G (p.Gln4117Arg) rs200038446 0.00003
NM_001378454.1(ALMS1):c.12354G>A (p.Arg4118=) rs546745992 0.00003
NM_001378454.1(ALMS1):c.1607C>G (p.Thr536Ser) rs766105909 0.00003
NM_001378454.1(ALMS1):c.169G>A (p.Asp57Asn) rs773881728 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.2107G>C (p.Asp703His) rs756176783 0.00003
NM_001378454.1(ALMS1):c.2122A>G (p.Thr708Ala) rs571389435 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.2285G>C (p.Ser762Thr) rs768930001 0.00003
NM_001378454.1(ALMS1):c.2486A>G (p.His829Arg) rs370830603 0.00003
NM_001378454.1(ALMS1):c.2515G>A (p.Ala839Thr) rs1356972872 0.00003
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala) rs201884768 0.00003
NM_001378454.1(ALMS1):c.4447A>G (p.Ile1483Val) rs749573527 0.00003
NM_001378454.1(ALMS1):c.4795A>G (p.Ile1599Val) rs377671796 0.00003
NM_001378454.1(ALMS1):c.4856C>T (p.Ala1619Val) rs1085307684 0.00003
NM_001378454.1(ALMS1):c.4883A>G (p.Tyr1628Cys) rs375939859 0.00003
NM_001378454.1(ALMS1):c.5724G>C (p.Gln1908His) rs779739318 0.00003
NM_001378454.1(ALMS1):c.587C>T (p.Thr196Met) rs562345472 0.00003
NM_001378454.1(ALMS1):c.651A>G (p.Ile217Met) rs774831792 0.00003
NM_001378454.1(ALMS1):c.6707C>T (p.Pro2236Leu) rs201737248 0.00003
NM_001378454.1(ALMS1):c.6937A>G (p.Asn2313Asp) rs766346478 0.00003
NM_001378454.1(ALMS1):c.6976A>G (p.Ser2326Gly) rs560736902 0.00003
NM_001378454.1(ALMS1):c.7040G>T (p.Gly2347Val) rs752336806 0.00003
NM_001378454.1(ALMS1):c.7199G>A (p.Gly2400Glu) rs373985919 0.00003
NM_001378454.1(ALMS1):c.7402A>G (p.Ser2468Gly) rs1007457582 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.8489G>A (p.Cys2830Tyr) rs369720907 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.9460A>T (p.Thr3154Ser) rs553507775 0.00003
NM_001378454.1(ALMS1):c.9565C>T (p.Leu3189Phe) rs376367125 0.00003
NM_001378454.1(ALMS1):c.10020G>A (p.Arg3340=) rs746166271 0.00002
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=) rs1464934308 0.00002
NM_001378454.1(ALMS1):c.10427T>C (p.Val3476Ala) rs750128969 0.00002
NM_001378454.1(ALMS1):c.10550A>G (p.His3517Arg) rs753393562 0.00002
NM_001378454.1(ALMS1):c.10630A>G (p.Arg3544Gly) rs773075850 0.00002
NM_001378454.1(ALMS1):c.10832A>G (p.Gln3611Arg) rs45452795 0.00002
NM_001378454.1(ALMS1):c.11329G>A (p.Glu3777Lys) rs565098671 0.00002
NM_001378454.1(ALMS1):c.1139T>C (p.Ile380Thr) rs199872225 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.11660T>C (p.Ile3887Thr) rs45630562 0.00002
NM_001378454.1(ALMS1):c.12376C>T (p.Leu4126Phe) rs746923966 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.1633A>G (p.Thr545Ala) rs201647675 0.00002
NM_001378454.1(ALMS1):c.1634C>T (p.Thr545Ile) rs772068213 0.00002
NM_001378454.1(ALMS1):c.1651A>T (p.Thr551Ser) rs1271418277 0.00002
NM_001378454.1(ALMS1):c.1884T>C (p.Pro628=) rs373831151 0.00002
NM_001378454.1(ALMS1):c.2502T>C (p.Ala834=) rs761599987 0.00002
NM_001378454.1(ALMS1):c.2739G>C (p.Lys913Asn) rs373378385 0.00002
NM_001378454.1(ALMS1):c.2961G>A (p.Leu987=) rs745503022 0.00002
NM_001378454.1(ALMS1):c.3002G>T (p.Gly1001Val) rs773630367 0.00002
NM_001378454.1(ALMS1):c.315C>T (p.Ser105=) rs754611450 0.00002
NM_001378454.1(ALMS1):c.3493C>T (p.Pro1165Ser) rs767103091 0.00002
NM_001378454.1(ALMS1):c.3604T>C (p.Tyr1202His) rs766931841 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.4131C>T (p.Thr1377=) rs759705921 0.00002
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228 0.00002
NM_001378454.1(ALMS1):c.5566C>G (p.His1856Asp) rs777664567 0.00002
NM_001378454.1(ALMS1):c.5765T>C (p.Val1922Ala) rs761428155 0.00002
NM_001378454.1(ALMS1):c.679C>T (p.Pro227Ser) rs756201461 0.00002
NM_001378454.1(ALMS1):c.6833A>G (p.Asn2278Ser) rs767464740 0.00002
NM_001378454.1(ALMS1):c.7033C>T (p.Arg2345Trp) rs776611154 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.7493A>T (p.Glu2498Val) rs1164499906 0.00002
NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu) rs996036496 0.00002
NM_001378454.1(ALMS1):c.8410C>T (p.Arg2804Cys) rs746432199 0.00002
NM_001378454.1(ALMS1):c.874C>T (p.Arg292Cys) rs757657988 0.00002
NM_001378454.1(ALMS1):c.8882C>T (p.Pro2961Leu) rs781477502 0.00002
NM_001378454.1(ALMS1):c.9026A>G (p.Asn3009Ser) rs757198941 0.00002
NM_001378454.1(ALMS1):c.9178G>T (p.Asp3060Tyr) rs547914710 0.00002
NM_001378454.1(ALMS1):c.9281C>T (p.Ser3094Leu) rs368970124 0.00002
NM_001378454.1(ALMS1):c.9708G>A (p.Lys3236=) rs574095166 0.00002
NM_001378454.1(ALMS1):c.9772G>A (p.Gly3258Ser) rs769100528 0.00002
NM_001378454.1(ALMS1):c.9928C>T (p.Pro3310Ser) rs775666186 0.00002
NM_001378454.1(ALMS1):c.9995A>G (p.His3332Arg) rs777406837 0.00002
NM_001378454.1(ALMS1):c.10004G>T (p.Gly3335Val) rs1344858585 0.00001
NM_001378454.1(ALMS1):c.1006T>C (p.Cys336Arg) rs746923506 0.00001
NM_001378454.1(ALMS1):c.10137A>G (p.Gln3379=) rs756623131 0.00001
NM_001378454.1(ALMS1):c.10169C>T (p.Ala3390Val) rs905527689 0.00001
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly) rs746702722 0.00001
NM_001378454.1(ALMS1):c.10338G>T (p.Glu3446Asp) rs928444733 0.00001
NM_001378454.1(ALMS1):c.103G>C (p.Ala35Pro) rs955371491 0.00001
NM_001378454.1(ALMS1):c.10420C>T (p.Arg3474Cys) rs759337193 0.00001
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter) rs1275113273 0.00001
NM_001378454.1(ALMS1):c.10573C>T (p.His3525Tyr) rs778304579 0.00001
NM_001378454.1(ALMS1):c.10611G>A (p.Lys3537=) rs1470146152 0.00001
NM_001378454.1(ALMS1):c.10625A>G (p.Tyr3542Cys) rs761771973 0.00001
NM_001378454.1(ALMS1):c.10635A>G (p.Ile3545Met) rs760321819 0.00001
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter) rs1192396248 0.00001
NM_001378454.1(ALMS1):c.10856A>G (p.Asp3619Gly) rs779029779 0.00001
NM_001378454.1(ALMS1):c.10947T>C (p.Ser3649=) rs373024720 0.00001
NM_001378454.1(ALMS1):c.10968G>C (p.Gly3656=) rs1439789927 0.00001
NM_001378454.1(ALMS1):c.1096C>G (p.Gln366Glu) rs887270267 0.00001
NM_001378454.1(ALMS1):c.11104C>A (p.Arg3702=) rs747747269 0.00001
NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs) rs398122992 0.00001
NM_001378454.1(ALMS1):c.11143A>G (p.Lys3715Glu) rs765505349 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.11393G>A (p.Arg3798Lys) rs1006564458 0.00001
NM_001378454.1(ALMS1):c.11401T>A (p.Leu3801Met) rs780494417 0.00001
NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter) rs940576720 0.00001
NM_001378454.1(ALMS1):c.11467C>T (p.Arg3823Trp) rs17848868 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.11688C>T (p.Asn3896=) rs202172921 0.00001
NM_001378454.1(ALMS1):c.11705C>G (p.Thr3902Ser) rs369008610 0.00001
NM_001378454.1(ALMS1):c.11728C>G (p.Pro3910Ala) rs761099182 0.00001
NM_001378454.1(ALMS1):c.11737A>C (p.Ser3913Arg) rs776963509 0.00001
NM_001378454.1(ALMS1):c.11764A>G (p.Asn3922Asp) rs45486496 0.00001
NM_001378454.1(ALMS1):c.1185G>A (p.Gly395=) rs1450546722 0.00001
NM_001378454.1(ALMS1):c.12425A>G (p.Tyr4142Cys) rs775032572 0.00001
NM_001378454.1(ALMS1):c.1270A>G (p.Ile424Val) rs775981299 0.00001
NM_001378454.1(ALMS1):c.1432+5G>A rs755613962 0.00001
NM_001378454.1(ALMS1):c.1639C>G (p.Leu547Val) rs1451493287 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001378454.1(ALMS1):c.1855T>C (p.Ser619Pro) rs921968387 0.00001
NM_001378454.1(ALMS1):c.1962A>G (p.Pro654=) rs1572931748 0.00001
NM_001378454.1(ALMS1):c.200G>A (p.Ser67Asn) rs776932244 0.00001
NM_001378454.1(ALMS1):c.2079G>C (p.Leu693=) rs1320005523 0.00001
NM_001378454.1(ALMS1):c.2087C>A (p.Ser696Ter) rs1490504758 0.00001
NM_001378454.1(ALMS1):c.2156G>A (p.Arg719Lys) rs923816827 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.219C>G (p.Asp73Glu) rs905373886 0.00001
NM_001378454.1(ALMS1):c.234C>T (p.Ala78=) rs368947491 0.00001
NM_001378454.1(ALMS1):c.2517T>G (p.Ala839=) rs765949316 0.00001
NM_001378454.1(ALMS1):c.2542A>G (p.Thr848Ala) rs777811953 0.00001
NM_001378454.1(ALMS1):c.25C>T (p.Pro9Ser) rs769538172 0.00001
NM_001378454.1(ALMS1):c.266C>T (p.Pro89Leu) rs989191437 0.00001
NM_001378454.1(ALMS1):c.2683G>A (p.Asp895Asn) rs756206965 0.00001
NM_001378454.1(ALMS1):c.2756A>C (p.Gln919Pro) rs751883638 0.00001
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter) rs539612316 0.00001
NM_001378454.1(ALMS1):c.2872A>T (p.Ser958Cys) rs1259661145 0.00001
NM_001378454.1(ALMS1):c.3016dup (p.Arg1006fs) rs878854998 0.00001
NM_001378454.1(ALMS1):c.3029G>A (p.Ser1010Asn) rs1448665150 0.00001
NM_001378454.1(ALMS1):c.3062A>T (p.Tyr1021Phe) rs574757598 0.00001
NM_001378454.1(ALMS1):c.323A>G (p.Lys108Arg) rs1046964700 0.00001
NM_001378454.1(ALMS1):c.3246A>G (p.Pro1082=) rs532389598 0.00001
NM_001378454.1(ALMS1):c.3310G>A (p.Gly1104Ser) rs868703237 0.00001
NM_001378454.1(ALMS1):c.3407C>T (p.Thr1136Ile) rs756805885 0.00001
NM_001378454.1(ALMS1):c.3582A>G (p.Gln1194=) rs768478218 0.00001
NM_001378454.1(ALMS1):c.3764A>G (p.Asp1255Gly) rs773586990 0.00001
NM_001378454.1(ALMS1):c.392C>A (p.Ser131Tyr) rs756453260 0.00001
NM_001378454.1(ALMS1):c.4057C>A (p.Pro1353Thr) rs1005994594 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.4360G>C (p.Glu1454Gln) rs768816557 0.00001
NM_001378454.1(ALMS1):c.4370T>C (p.Val1457Ala) rs1671922685 0.00001
NM_001378454.1(ALMS1):c.442G>A (p.Asp148Asn) rs757606922 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.4476G>T (p.Glu1492Asp) rs745623990 0.00001
NM_001378454.1(ALMS1):c.4643T>C (p.Leu1548Pro) rs745859143 0.00001
NM_001378454.1(ALMS1):c.4765C>A (p.His1589Asn) rs771703863 0.00001
NM_001378454.1(ALMS1):c.4789G>A (p.Val1597Ile) rs759914299 0.00001
NM_001378454.1(ALMS1):c.4985C>G (p.Ser1662Cys) rs776002916 0.00001
NM_001378454.1(ALMS1):c.4995C>T (p.Tyr1665=) rs762003836 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_001378454.1(ALMS1):c.5147A>G (p.Glu1716Gly) rs760638961 0.00001
NM_001378454.1(ALMS1):c.5172G>C (p.Gln1724His) rs1402153419 0.00001
NM_001378454.1(ALMS1):c.518C>T (p.Thr173Ile) rs1163075641 0.00001
NM_001378454.1(ALMS1):c.5282A>T (p.His1761Leu) rs760251120 0.00001
NM_001378454.1(ALMS1):c.5343G>C (p.Glu1781Asp) rs1671948778 0.00001
NM_001378454.1(ALMS1):c.5484G>T (p.Leu1828Phe) rs376996058 0.00001
NM_001378454.1(ALMS1):c.5558A>G (p.Gln1853Arg) rs574696548 0.00001
NM_001378454.1(ALMS1):c.5767G>C (p.Val1923Leu) rs772665115 0.00001
NM_001378454.1(ALMS1):c.5887G>A (p.Glu1963Lys) rs45484791 0.00001
NM_001378454.1(ALMS1):c.5891C>A (p.Ala1964Asp) rs1196949061 0.00001
NM_001378454.1(ALMS1):c.5903C>G (p.Ser1968Ter) rs1490127694 0.00001
NM_001378454.1(ALMS1):c.6020A>G (p.Gln2007Arg) rs1047348249 0.00001
NM_001378454.1(ALMS1):c.6071A>C (p.Lys2024Thr) rs369339997 0.00001
NM_001378454.1(ALMS1):c.6071A>G (p.Lys2024Arg) rs369339997 0.00001
NM_001378454.1(ALMS1):c.6121C>G (p.Gln2041Glu) rs780824087 0.00001
NM_001378454.1(ALMS1):c.6359A>G (p.Lys2120Arg) rs745919138 0.00001
NM_001378454.1(ALMS1):c.646+8C>G rs760012033 0.00001
NM_001378454.1(ALMS1):c.6506C>T (p.Ser2169Leu) rs368833782 0.00001
NM_001378454.1(ALMS1):c.6563C>G (p.Thr2188Ser) rs752016657 0.00001
NM_001378454.1(ALMS1):c.6639C>G (p.Asp2213Glu) rs769322538 0.00001
NM_001378454.1(ALMS1):c.6776T>C (p.Leu2259Pro) rs768229118 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.6838C>T (p.Pro2280Ser) rs1273490920 0.00001
NM_001378454.1(ALMS1):c.6991T>C (p.Cys2331Arg) rs1060500038 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.7217C>T (p.Pro2406Leu) rs1481573722 0.00001
NM_001378454.1(ALMS1):c.7226C>G (p.Thr2409Ser) rs866357733 0.00001
NM_001378454.1(ALMS1):c.7376G>C (p.Ser2459Thr) rs778055498 0.00001
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter) rs1198051503 0.00001
NM_001378454.1(ALMS1):c.7404T>A (p.Ser2468Arg) rs749127545 0.00001
NM_001378454.1(ALMS1):c.7433C>G (p.Ser2478Ter) rs1303829798 0.00001
NM_001378454.1(ALMS1):c.7526G>A (p.Arg2509Gln) rs551433143 0.00001
NM_001378454.1(ALMS1):c.7568A>G (p.His2523Arg) rs763422515 0.00001
NM_001378454.1(ALMS1):c.7780C>T (p.His2594Tyr) rs754585700 0.00001
NM_001378454.1(ALMS1):c.7883A>G (p.Asn2628Ser) rs776280658 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.8239G>T (p.Val2747Leu) rs878855002 0.00001
NM_001378454.1(ALMS1):c.8420A>C (p.Gln2807Pro) rs768782274 0.00001
NM_001378454.1(ALMS1):c.8423A>G (p.Glu2808Gly) rs1255060538 0.00001
NM_001378454.1(ALMS1):c.847G>C (p.Glu283Gln) rs780066739 0.00001
NM_001378454.1(ALMS1):c.8483C>A (p.Ala2828Glu) rs751296181 0.00001
NM_001378454.1(ALMS1):c.8560C>G (p.Leu2854Val) rs765176591 0.00001
NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter) rs776563011 0.00001
NM_001378454.1(ALMS1):c.8655A>G (p.Arg2885=) rs377249623 0.00001
NM_001378454.1(ALMS1):c.8673C>A (p.Ser2891Arg) rs755823751 0.00001
NM_001378454.1(ALMS1):c.8723C>T (p.Pro2908Leu) rs537639125 0.00001
NM_001378454.1(ALMS1):c.873T>G (p.Ser291Arg) rs747529881 0.00001
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=) rs777796888 0.00001
NM_001378454.1(ALMS1):c.8974G>T (p.Asp2992Tyr) rs937731506 0.00001
NM_001378454.1(ALMS1):c.9029T>C (p.Ile3010Thr) rs780894681 0.00001
NM_001378454.1(ALMS1):c.9161A>G (p.Lys3054Arg) rs778324244 0.00001
NM_001378454.1(ALMS1):c.9382G>A (p.Val3128Ile) rs764937531 0.00001
NM_001378454.1(ALMS1):c.9384A>G (p.Val3128=) rs752453102 0.00001
NM_001378454.1(ALMS1):c.9509A>G (p.Asn3170Ser) rs1396386580 0.00001
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly) rs563393715 0.00001
NM_001378454.1(ALMS1):c.9610A>G (p.Ile3204Val) rs377600448 0.00001
NM_001378454.1(ALMS1):c.961G>A (p.Glu321Lys) rs763730338 0.00001
NM_001378454.1(ALMS1):c.9631A>G (p.Lys3211Glu) rs770987613 0.00001
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe) rs771768835 0.00001
NM_001378454.1(ALMS1):c.9702C>G (p.Asn3234Lys) rs771376818 0.00001
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=) rs370267673 0.00001
NM_001378454.1(ALMS1):c.9760A>C (p.Thr3254Pro) rs1553412796 0.00001
NM_001378454.1(ALMS1):c.9871T>C (p.Ser3291Pro) rs759591871 0.00001
NM_001378454.1(ALMS1):c.1012C>T (p.Arg338Cys) rs867586310
NM_001378454.1(ALMS1):c.10177G>T (p.Ala3393Ser) rs145678202
NM_001378454.1(ALMS1):c.10213+1G>A rs374681570
NM_001378454.1(ALMS1):c.10269GAA[1] (p.Lys3424del) rs1184260245
NM_001378454.1(ALMS1):c.10558G>C (p.Asp3520His) rs1403094265
NM_001378454.1(ALMS1):c.10671A>C (p.Lys3557Asn) rs1674959132
NM_001378454.1(ALMS1):c.10671_10674del (p.Lys3557_Glu3558insTer) rs1372103295
NM_001378454.1(ALMS1):c.10774A>C (p.Thr3592Pro) rs200467041
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs) rs1218465638
NM_001378454.1(ALMS1):c.11045_11056del (p.Leu3682_Ser3685del) rs757734472
NM_001378454.1(ALMS1):c.11140A>G (p.Ile3714Val) rs370536187
NM_001378454.1(ALMS1):c.11309A>G (p.Asp3770Gly) rs770147613
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs) rs780252175
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) rs747272625
NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val) rs771595125
NM_001378454.1(ALMS1):c.11323C>T (p.Leu3775=) rs771595125
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs) rs768759374
NM_001378454.1(ALMS1):c.11481C>G (p.Ser3827Arg) rs549156484
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.11667A>G (p.Ala3889=) rs767848384
NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys) rs3813227
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs) rs1247974278
NM_001378454.1(ALMS1):c.11798G>T (p.Arg3933Leu) rs45576434
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.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.1237+10C>G rs1291450244
NM_001378454.1(ALMS1):c.12399AGA[2] (p.Glu4136del) rs764575993
NM_001378454.1(ALMS1):c.1247A>G (p.Gln416Arg) rs777072028
NM_001378454.1(ALMS1):c.1343C>G (p.Thr448Arg) rs774335945
NM_001378454.1(ALMS1):c.1432+2_1432+15del rs1203193062
NM_001378454.1(ALMS1):c.144A>G (p.Glu48=) rs1670515874
NM_001378454.1(ALMS1):c.1602T>G (p.Thr534=) rs757654976
NM_001378454.1(ALMS1):c.160T>G (p.Leu54Val) rs745737550
NM_001378454.1(ALMS1):c.1681G>A (p.Ala561Thr) rs776104521
NM_001378454.1(ALMS1):c.1778A>G (p.His593Arg) rs2103772175
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly) rs115444326
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter) rs115444326
NM_001378454.1(ALMS1):c.2119G>A (p.Gly707Arg) rs1671857463
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs) rs771459937
NM_001378454.1(ALMS1):c.2199T>A (p.Ser733Arg) rs1671860790
NM_001378454.1(ALMS1):c.2279A>G (p.Gln760Arg) rs1572932391
NM_001378454.1(ALMS1):c.2339A>T (p.Asp780Val) rs756716132
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=) rs77517267
NM_001378454.1(ALMS1):c.2683_2685del (p.Asp895del) rs763288832
NM_001378454.1(ALMS1):c.2726C>T (p.Ser909Leu) rs746640196
NM_001378454.1(ALMS1):c.2809G>C (p.Val937Leu) rs756153603
NM_001378454.1(ALMS1):c.3091A>C (p.Thr1031Pro) rs72811915
NM_001378454.1(ALMS1):c.30C>T (p.Gly10=) rs1402244580
NM_001378454.1(ALMS1):c.3255G>T (p.Gln1085His) rs181507134
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile) rs752342634
NM_001378454.1(ALMS1):c.354A>G (p.Gln118=) rs531782624
NM_001378454.1(ALMS1):c.3572del (p.Phe1191fs) rs1558648759
NM_001378454.1(ALMS1):c.3596G>A (p.Gly1199Asp) rs1572934110
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[20] (p.Glu22_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.3812C>T (p.Pro1271Leu) rs372563916
NM_001378454.1(ALMS1):c.3980C>T (p.Pro1327Leu) rs764135588
NM_001378454.1(ALMS1):c.4002C>G (p.Tyr1334Ter) rs2103780942
NM_001378454.1(ALMS1):c.450+2T>C rs1671019928
NM_001378454.1(ALMS1):c.4542C>T (p.Gly1514=) rs763511170
NM_001378454.1(ALMS1):c.4626A>C (p.Gln1542His) rs201603580
NM_001378454.1(ALMS1):c.4824_4826del (p.Asp1609del) rs1057518311
NM_001378454.1(ALMS1):c.5111C>T (p.Thr1704Ile) rs755683870
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu) rs962844498
NM_001378454.1(ALMS1):c.5310G>A (p.Gln1770=) rs778267451
NM_001378454.1(ALMS1):c.5422C>T (p.His1808Tyr) rs1572936601
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu) rs200925575
NM_001378454.1(ALMS1):c.5582A>G (p.Tyr1861Cys) rs556743491
NM_001378454.1(ALMS1):c.5673A>T (p.Ala1891=) rs1572936907
NM_001378454.1(ALMS1):c.5732C>T (p.Pro1911Leu) rs1671960359
NM_001378454.1(ALMS1):c.5785C>T (p.Arg1929Trp) rs938557636
NM_001378454.1(ALMS1):c.5822A>G (p.Tyr1941Cys) rs374676136
NM_001378454.1(ALMS1):c.5827C>A (p.Arg1943Ser) rs370398704
NM_001378454.1(ALMS1):c.5828G>A (p.Arg1943His) rs146669152
NM_001378454.1(ALMS1):c.596A>G (p.Glu199Gly) rs1553399974
NM_001378454.1(ALMS1):c.6164A>T (p.Asn2055Ile) rs772187394
NM_001378454.1(ALMS1):c.6166_6167dup (p.Leu2057fs) rs759603306
NM_001378454.1(ALMS1):c.6235G>A (p.Glu2079Lys) rs758696535
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter) rs28730854
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu) rs28730854
NM_001378454.1(ALMS1):c.6304A>C (p.Asn2102His) rs1386959032
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter) rs770558150
NM_001378454.1(ALMS1):c.6524C>T (p.Ala2175Val) rs549259627
NM_001378454.1(ALMS1):c.6679G>C (p.Ala2227Pro) rs1671986679
NM_001378454.1(ALMS1):c.6723T>C (p.Phe2241=) rs1671987512
NM_001378454.1(ALMS1):c.6775C>G (p.Leu2259Val) rs748833907
NM_001378454.1(ALMS1):c.6811A>G (p.Asn2271Asp) rs1558651314
NM_001378454.1(ALMS1):c.6854G>T (p.Arg2285Leu) rs6546839
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs) rs1553404358
NM_001378454.1(ALMS1):c.6899T>C (p.Val2300Ala) rs1057523384
NM_001378454.1(ALMS1):c.6901G>A (p.Val2301Ile) rs1671992482
NM_001378454.1(ALMS1):c.6975A>G (p.Glu2325=) rs1455390186
NM_001378454.1(ALMS1):c.7013C>A (p.Thr2338Lys) rs373004988
NM_001378454.1(ALMS1):c.7093G>A (p.Glu2365Lys) rs1572938591
NM_001378454.1(ALMS1):c.7193C>T (p.Thr2398Ile) rs200470452
NM_001378454.1(ALMS1):c.7277G>T (p.Cys2426Phe) rs35649068
NM_001378454.1(ALMS1):c.7288A>G (p.Ser2430Gly) rs539112266
NM_001378454.1(ALMS1):c.7301_7302del (p.Glu2434fs) rs1246023978
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs) rs1370417967
NM_001378454.1(ALMS1):c.7414G>C (p.Gly2472Arg) rs1672006091
NM_001378454.1(ALMS1):c.7455C>A (p.Asn2485Lys) rs988216695
NM_001378454.1(ALMS1):c.7473C>T (p.Ser2491=) rs1572938980
NM_001378454.1(ALMS1):c.7507G>T (p.Ala2503Ser) rs202060439
NM_001378454.1(ALMS1):c.7684A>C (p.Ser2562Arg) rs772417159
NM_001378454.1(ALMS1):c.7755A>G (p.Gly2585=) rs1672933172
NM_001378454.1(ALMS1):c.7810T>G (p.Phe2604Val) rs1220754616
NM_001378454.1(ALMS1):c.7839C>T (p.Thr2613=) rs746168704
NM_001378454.1(ALMS1):c.7981G>A (p.Glu2661Lys) rs762452929
NM_001378454.1(ALMS1):c.8005C>T (p.Arg2669Ter) rs549857076
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter) rs1426009756
NM_001378454.1(ALMS1):c.8246T>C (p.Val2749Ala) rs2103891180
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.8311C>A (p.Pro2771Thr) rs1245686264
NM_001378454.1(ALMS1):c.8335A>G (p.Asn2779Asp) rs1672950651
NM_001378454.1(ALMS1):c.8388A>T (p.Gln2796His) rs770409935
NM_001378454.1(ALMS1):c.8472C>T (p.Pro2824=) rs1467835066
NM_001378454.1(ALMS1):c.8487T>C (p.Asn2829=) rs756959656
NM_001378454.1(ALMS1):c.8556C>T (p.Ser2852=) rs201560634
NM_001378454.1(ALMS1):c.8562A>G (p.Leu2854=) rs2103892303
NM_001378454.1(ALMS1):c.8614A>G (p.Ile2872Val) rs1672958523
NM_001378454.1(ALMS1):c.8775A>G (p.Glu2925=) rs1672963670
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter) rs376244626
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg) rs574785830
NM_001378454.1(ALMS1):c.8959C>G (p.Leu2987Val) rs952528298
NM_001378454.1(ALMS1):c.9006G>C (p.Lys3002Asn) rs753980616
NM_001378454.1(ALMS1):c.9109CCT[1] (p.Pro3038del) rs759799299
NM_001378454.1(ALMS1):c.9133T>C (p.Ser3045Pro) rs1300179474
NM_001378454.1(ALMS1):c.9262C>T (p.His3088Tyr) rs1672978412
NM_001378454.1(ALMS1):c.9325C>G (p.Gln3109Glu) rs1558667813
NM_001378454.1(ALMS1):c.9336A>T (p.Glu3112Asp) rs1558667820
NM_001378454.1(ALMS1):c.9337T>C (p.Ser3113Pro) rs1572970696
NM_001378454.1(ALMS1):c.9377A>G (p.Gln3126Arg) rs1553409872
NM_001378454.1(ALMS1):c.9423C>G (p.Asp3141Glu) rs1486652095
NM_001378454.1(ALMS1):c.9678A>G (p.Gly3226=) rs1175450599
NM_001378454.1(ALMS1):c.9721C>A (p.Pro3241Thr) rs746680944
NM_001378454.1(ALMS1):c.9782-1G>A rs1673992163
NM_001378454.1(ALMS1):c.9809C>T (p.Pro3270Leu) rs551032553
NM_001378454.1(ALMS1):c.9843A>G (p.Gln3281=) rs1573000980
NM_001378454.1(ALMS1):c.9875A>C (p.Lys3292Thr) rs959966297
NM_001378454.1(ALMS1):c.996T>C (p.Ile332=) rs760947833

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