ClinVar Miner

List of variants in gene ALMS1 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2568
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195 0.01772
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319 0.01071
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_001378454.1(ALMS1):c.11872+18G>A rs139647347 0.00482
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963 0.00429
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794 0.00163
NM_001378454.1(ALMS1):c.*105A>G rs553541249 0.00150
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
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.5189A>G (p.Glu1730Gly) rs201390755 0.00065
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu) rs200266868 0.00064
NM_001378454.1(ALMS1):c.4024G>A (p.Val1342Ile) rs751346260 0.00062
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.8411G>A (p.Arg2804His) rs201252809 0.00057
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.4222G>A (p.Val1408Ile) rs200529564 0.00042
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val) rs202111717 0.00041
NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala) rs201804994 0.00039
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser) rs201971114 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.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 0.00032
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.9976G>C (p.Ala3326Pro) rs201213079 0.00026
NM_001378454.1(ALMS1):c.8765T>C (p.Ile2922Thr) rs201738475 0.00024
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.4228G>C (p.Ala1410Pro) rs201517720 0.00022
NM_001378454.1(ALMS1):c.4543G>A (p.Ala1515Thr) rs183839621 0.00022
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln) rs199615641 0.00022
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.280C>T (p.Pro94Ser) rs775431837 0.00020
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) rs199922877 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.*209A>G rs573978557 0.00019
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr) rs201028172 0.00019
NM_001378454.1(ALMS1):c.3295C>A (p.Gln1099Lys) rs764823951 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.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.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.3812C>A (p.Pro1271Gln) rs372563916 0.00017
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877 0.00017
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.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.5117C>T (p.Ser1706Leu) rs1187000436 0.00014
NM_001378454.1(ALMS1):c.5466T>A (p.His1822Gln) rs201677365 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.4394C>T (p.Thr1465Met) rs200980776 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.6816G>A (p.Met2272Ile) rs765233946 0.00013
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His) rs200441305 0.00013
NM_015120.4(ALMS1):c.-64C>T rs886056293 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.2665A>G (p.Ile889Val) rs377282102 0.00012
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala) rs199649563 0.00012
NM_001378454.1(ALMS1):c.-16A>G rs746944958 0.00011
NM_001378454.1(ALMS1):c.109G>C (p.Val37Leu) rs774784126 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.4886G>A (p.Arg1629Gln) rs142917664 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.8530C>T (p.Leu2844Phe) rs920714816 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.1433-3T>C rs367710998 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.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.9600A>C (p.Ala3200=) rs113808259 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.3477G>T (p.Leu1159Phe) rs575644902 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.4199A>G (p.His1400Arg) rs371101065 0.00009
NM_001378454.1(ALMS1):c.4948C>T (p.Pro1650Ser) rs765233016 0.00009
NM_001378454.1(ALMS1):c.568C>A (p.Leu190Met) rs375838474 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.9908-13C>T rs373325114 0.00009
NM_001378454.1(ALMS1):c.8357C>G (p.Thr2786Ser) rs565373304 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.1339-3A>C rs572922738 0.00007
NM_001378454.1(ALMS1):c.1516A>T (p.Ile506Phe) rs555552377 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.974C>T (p.Ser325Leu) rs376632767 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.11414G>A (p.Arg3805Gln) rs201646938 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.1834A>C (p.Thr612Pro) rs775286973 0.00006
NM_001378454.1(ALMS1):c.2570C>T (p.Ser857Phe) rs538743256 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.3944C>T (p.Ala1315Val) rs750671777 0.00006
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr) rs373638043 0.00006
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys) rs370398704 0.00006
NM_001378454.1(ALMS1):c.6458A>G (p.Gln2153Arg) rs534635095 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.7846C>T (p.Arg2616Trp) rs145383239 0.00006
NM_001378454.1(ALMS1):c.8168C>A (p.Ser2723Tyr) rs368409205 0.00006
NM_001378454.1(ALMS1):c.11167A>G (p.Lys3723Glu) rs530985565 0.00005
NM_001378454.1(ALMS1):c.11548-3T>C rs555547573 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.2629A>G (p.Asn877Asp) rs776351580 0.00005
NM_001378454.1(ALMS1):c.3088T>A (p.Ser1030Thr) rs1023974968 0.00005
NM_001378454.1(ALMS1):c.3860C>T (p.Ser1287Leu) rs375231416 0.00005
NM_001378454.1(ALMS1):c.4173C>A (p.Phe1391Leu) rs370406004 0.00005
NM_001378454.1(ALMS1):c.4286A>G (p.Tyr1429Cys) rs763136053 0.00005
NM_001378454.1(ALMS1):c.4483C>G (p.Leu1495Val) rs373213201 0.00005
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala) rs770424780 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.6143A>G (p.Tyr2048Cys) rs201162418 0.00005
NM_001378454.1(ALMS1):c.6183G>C (p.Gln2061His) rs200041852 0.00005
NM_001378454.1(ALMS1):c.6299A>T (p.Lys2100Ile) rs373286582 0.00005
NM_001378454.1(ALMS1):c.6706C>A (p.Pro2236Thr) rs200724860 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.9937C>G (p.Pro3313Ala) rs762967276 0.00005
NM_001378454.1(ALMS1):c.10823G>A (p.Arg3608Gln) rs752052259 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.11567C>T (p.Ser3856Phe) rs1414717577 0.00004
NM_001378454.1(ALMS1):c.11669-7C>A rs548573570 0.00004
NM_001378454.1(ALMS1):c.11863T>G (p.Ser3955Ala) rs45528134 0.00004
NM_001378454.1(ALMS1):c.1339C>G (p.Pro447Ala) rs377283762 0.00004
NM_001378454.1(ALMS1):c.1400C>T (p.Thr467Ile) rs201990757 0.00004
NM_001378454.1(ALMS1):c.1420C>A (p.His474Asn) rs200454461 0.00004
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp) rs531859344 0.00004
NM_001378454.1(ALMS1):c.1971G>T (p.Gln657His) rs753296810 0.00004
NM_001378454.1(ALMS1):c.2269C>T (p.Pro757Ser) rs200827630 0.00004
NM_001378454.1(ALMS1):c.2434T>G (p.Ser812Ala) rs376991574 0.00004
NM_001378454.1(ALMS1):c.311C>T (p.Thr104Ile) rs1394136837 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.4324G>T (p.Val1442Phe) rs375842278 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.536C>T (p.Thr179Met) rs768531502 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.6577G>A (p.Glu2193Lys) rs911597055 0.00004
NM_001378454.1(ALMS1):c.6628A>G (p.Asn2210Asp) rs780909821 0.00004
NM_001378454.1(ALMS1):c.6815T>C (p.Met2272Thr) rs1330734793 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.7276T>G (p.Cys2426Gly) rs549778430 0.00004
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr) rs760068474 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.777T>G (p.Asp259Glu) rs190445250 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.8035T>G (p.Trp2679Gly) rs1403694361 0.00004
NM_001378454.1(ALMS1):c.8109G>A (p.Pro2703=) rs759983484 0.00004
NM_001378454.1(ALMS1):c.8206G>A (p.Val2736Ile) rs766878343 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.9083G>A (p.Cys3028Tyr) rs565501407 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.9713G>A (p.Arg3238His) rs1176919572 0.00004
NM_001378454.1(ALMS1):c.9770G>A (p.Arg3257His) rs748153319 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.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.11441A>C (p.Asn3814Thr) rs763907736 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.1432+4C>T rs200933935 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.1772A>T (p.Asp591Val) rs541118531 0.00003
NM_001378454.1(ALMS1):c.1856C>T (p.Ser619Phe) rs377341653 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.2128A>G (p.Thr710Ala) rs367641723 0.00003
NM_001378454.1(ALMS1):c.2134C>G (p.Leu712Val) rs371524359 0.00003
NM_001378454.1(ALMS1):c.245C>T (p.Ala82Val) rs747750620 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.2515G>A (p.Ala839Thr) rs1356972872 0.00003
NM_001378454.1(ALMS1):c.2714C>G (p.Ser905Cys) rs748479099 0.00003
NM_001378454.1(ALMS1):c.3076G>C (p.Ala1026Pro) rs201451396 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.3484A>G (p.Thr1162Ala) rs763680884 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.4435G>A (p.Gly1479Arg) rs750765175 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.4907C>T (p.Pro1636Leu) rs775768298 0.00003
NM_001378454.1(ALMS1):c.5155A>G (p.Ile1719Val) rs1438158545 0.00003
NM_001378454.1(ALMS1):c.5174C>A (p.Ala1725Asp) rs764135516 0.00003
NM_001378454.1(ALMS1):c.5597C>T (p.Pro1866Leu) rs1323058030 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.5909T>C (p.Val1970Ala) rs765405386 0.00003
NM_001378454.1(ALMS1):c.6379C>T (p.Pro2127Ser) rs771800459 0.00003
NM_001378454.1(ALMS1):c.651A>G (p.Ile217Met) rs774831792 0.00003
NM_001378454.1(ALMS1):c.6658A>G (p.Asn2220Asp) rs1303642220 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.7013C>T (p.Thr2338Ile) rs373004988 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.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.8203G>A (p.Gly2735Ser) rs761136859 0.00003
NM_001378454.1(ALMS1):c.820A>C (p.Ser274Arg) rs761800808 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.8729A>G (p.His2910Arg) rs781370939 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.9112C>T (p.Pro3038Ser) rs370622410 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.*111A>G rs200498913 0.00002
NM_001378454.1(ALMS1):c.10081G>T (p.Ala3361Ser) rs770904502 0.00002
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=) rs1464934308 0.00002
NM_001378454.1(ALMS1):c.10261C>A (p.Pro3421Thr) rs763306448 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.10550A>G (p.His3517Arg) rs753393562 0.00002
NM_001378454.1(ALMS1):c.10630A>G (p.Arg3544Gly) rs773075850 0.00002
NM_001378454.1(ALMS1):c.10817G>A (p.Arg3606Gln) rs148044176 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.1153A>G (p.Ser385Gly) rs761174114 0.00002
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr) rs45630562 0.00002
NM_001378454.1(ALMS1):c.11668+17A>G rs201109126 0.00002
NM_001378454.1(ALMS1):c.12363-12G>A rs749504196 0.00002
NM_001378454.1(ALMS1):c.12376C>T (p.Leu4126Phe) rs746923966 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.12473A>G (p.Asn4158Ser) rs752828644 0.00002
NM_001378454.1(ALMS1):c.1252A>G (p.Lys418Glu) rs760066942 0.00002
NM_001378454.1(ALMS1):c.1450G>C (p.Gly484Arg) rs1212388844 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.176A>T (p.His59Leu) rs772683919 0.00002
NM_001378454.1(ALMS1):c.1969C>G (p.Gln657Glu) rs1371488235 0.00002
NM_001378454.1(ALMS1):c.2059C>T (p.His687Tyr) rs771266951 0.00002
NM_001378454.1(ALMS1):c.2293T>C (p.Ser765Pro) rs373936479 0.00002
NM_001378454.1(ALMS1):c.2345A>G (p.His782Arg) rs549457439 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.2804C>T (p.Ser935Leu) rs1183510271 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.3318C>G (p.Phe1106Leu) rs1044966122 0.00002
NM_001378454.1(ALMS1):c.3403G>A (p.Gly1135Ser) rs1419651180 0.00002
NM_001378454.1(ALMS1):c.3431A>T (p.Tyr1144Phe) rs749513495 0.00002
NM_001378454.1(ALMS1):c.343C>T (p.His115Tyr) rs759255714 0.00002
NM_001378454.1(ALMS1):c.3493C>T (p.Pro1165Ser) rs767103091 0.00002
NM_001378454.1(ALMS1):c.3545C>T (p.Thr1182Ile) rs778965893 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.460T>A (p.Ser154Thr) rs767106643 0.00002
NM_001378454.1(ALMS1):c.4829T>C (p.Ile1610Thr) rs757356524 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.5566C>G (p.His1856Asp) rs777664567 0.00002
NM_001378454.1(ALMS1):c.5694T>A (p.Asn1898Lys) rs1317035563 0.00002
NM_001378454.1(ALMS1):c.5765T>C (p.Val1922Ala) rs761428155 0.00002
NM_001378454.1(ALMS1):c.5860G>A (p.Glu1954Lys) rs1313974028 0.00002
NM_001378454.1(ALMS1):c.5971T>G (p.Ser1991Ala) rs777227174 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.7037G>A (p.Arg2346Lys) rs765006341 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.7328T>G (p.Leu2443Arg) rs766944640 0.00002
NM_001378454.1(ALMS1):c.7493A>T (p.Glu2498Val) rs1164499906 0.00002
NM_001378454.1(ALMS1):c.7541-6C>T rs1408073039 0.00002
NM_001378454.1(ALMS1):c.765-12A>G rs200209691 0.00002
NM_001378454.1(ALMS1):c.7912T>A (p.Ser2638Thr) rs548882067 0.00002
NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu) rs996036496 0.00002
NM_001378454.1(ALMS1):c.8134A>G (p.Thr2712Ala) rs765519997 0.00002
NM_001378454.1(ALMS1):c.813G>A (p.Ser271=) rs775482774 0.00002
NM_001378454.1(ALMS1):c.8410C>T (p.Arg2804Cys) rs746432199 0.00002
NM_001378454.1(ALMS1):c.8462A>G (p.His2821Arg) rs1259827695 0.00002
NM_001378454.1(ALMS1):c.8626C>A (p.Leu2876Ile) rs1447116062 0.00002
NM_001378454.1(ALMS1):c.8684G>A (p.Arg2895His) rs755542969 0.00002
NM_001378454.1(ALMS1):c.8720C>G (p.Ser2907Cys) rs747291259 0.00002
NM_001378454.1(ALMS1):c.872G>C (p.Ser291Thr) rs568470985 0.00002
NM_001378454.1(ALMS1):c.874C>T (p.Arg292Cys) rs757657988 0.00002
NM_001378454.1(ALMS1):c.8861A>G (p.Asp2954Gly) rs751940353 0.00002
NM_001378454.1(ALMS1):c.8882C>T (p.Pro2961Leu) rs781477502 0.00002
NM_001378454.1(ALMS1):c.8926G>A (p.Val2976Ile) rs1298787753 0.00002
NM_001378454.1(ALMS1):c.9026A>G (p.Asn3009Ser) rs757198941 0.00002
NM_001378454.1(ALMS1):c.902T>C (p.Ile301Thr) rs374259576 0.00002
NM_001378454.1(ALMS1):c.9055G>A (p.Val3019Met) rs773897748 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.9722C>A (p.Pro3241His) rs770579229 0.00002
NM_001378454.1(ALMS1):c.9772G>A (p.Gly3258Ser) rs769100528 0.00002
NM_001378454.1(ALMS1):c.9828G>A (p.Met3276Ile) rs551840069 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.-19C>T rs1553396078 0.00001
NM_001378454.1(ALMS1):c.-20G>A rs935547269 0.00001
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.10070A>G (p.Glu3357Gly) rs776497929 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.10137A>G (p.Gln3379=) rs756623131 0.00001
NM_001378454.1(ALMS1):c.10148G>A (p.Ser3383Asn) rs1553416873 0.00001
NM_001378454.1(ALMS1):c.10169C>T (p.Ala3390Val) rs905527689 0.00001
NM_001378454.1(ALMS1):c.10177G>A (p.Ala3393Thr) rs145678202 0.00001
NM_001378454.1(ALMS1):c.10186A>G (p.Lys3396Glu) rs1473998334 0.00001
NM_001378454.1(ALMS1):c.10212A>G (p.Ala3404=) rs755401614 0.00001
NM_001378454.1(ALMS1):c.10214-5C>T rs751591632 0.00001
NM_001378454.1(ALMS1):c.10214A>T (p.Asp3405Val) rs781411724 0.00001
NM_001378454.1(ALMS1):c.10217C>G (p.Ser3406Cys) rs1279080725 0.00001
NM_001378454.1(ALMS1):c.10264G>C (p.Glu3422Gln) rs1003992652 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.10338G>T (p.Glu3446Asp) rs928444733 0.00001
NM_001378454.1(ALMS1):c.10384+6G>A rs1343830351 0.00001
NM_001378454.1(ALMS1):c.10385-9C>T rs568809052 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.10433G>A (p.Arg3478Lys) rs893973875 0.00001
NM_001378454.1(ALMS1):c.10467C>T (p.His3489=) rs371631738 0.00001
NM_001378454.1(ALMS1):c.10476T>G (p.Ser3492Arg) rs1433521854 0.00001
NM_001378454.1(ALMS1):c.10493A>G (p.His3498Arg) rs759463622 0.00001
NM_001378454.1(ALMS1):c.10526A>G (p.His3509Arg) rs1674949532 0.00001
NM_001378454.1(ALMS1):c.10527T>G (p.His3509Gln) rs1332733899 0.00001
NM_001378454.1(ALMS1):c.1052G>A (p.Arg351Gln) rs563989825 0.00001
NM_001378454.1(ALMS1):c.10538A>T (p.Asp3513Val) rs767343226 0.00001
NM_001378454.1(ALMS1):c.10545T>A (p.Phe3515Leu) rs750147146 0.00001
NM_001378454.1(ALMS1):c.10573C>T (p.His3525Tyr) rs778304579 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.10723G>A (p.Gly3575Arg) rs752099349 0.00001
NM_001378454.1(ALMS1):c.10738C>G (p.Pro3580Ala) rs746126446 0.00001
NM_001378454.1(ALMS1):c.10772C>A (p.Thr3591Lys) rs773091397 0.00001
NM_001378454.1(ALMS1):c.10856A>G (p.Asp3619Gly) rs779029779 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.10947T>C (p.Ser3649=) rs373024720 0.00001
NM_001378454.1(ALMS1):c.1096C>G (p.Gln366Glu) rs887270267 0.00001
NM_001378454.1(ALMS1):c.10973G>A (p.Arg3658Gln) rs781344338 0.00001
NM_001378454.1(ALMS1):c.11071G>A (p.Glu3691Lys) rs750422041 0.00001
NM_001378454.1(ALMS1):c.11104C>A (p.Arg3702=) rs747747269 0.00001
NM_001378454.1(ALMS1):c.11105G>A (p.Arg3702Gln) rs188864796 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.11204C>T (p.Ser3735Leu) rs367877017 0.00001
NM_001378454.1(ALMS1):c.11219C>T (p.Ser3740Leu) rs948097402 0.00001
NM_001378454.1(ALMS1):c.1126A>T (p.Thr376Ser) rs376750978 0.00001
NM_001378454.1(ALMS1):c.1127C>G (p.Thr376Ser) rs762682178 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.11440A>G (p.Asn3814Asp) rs369256893 0.00001
NM_001378454.1(ALMS1):c.11467C>T (p.Arg3823Trp) rs17848868 0.00001
NM_001378454.1(ALMS1):c.11468G>A (p.Arg3823Gln) rs377572047 0.00001
NM_001378454.1(ALMS1):c.11477A>G (p.His3826Arg) rs371105298 0.00001
NM_001378454.1(ALMS1):c.11492T>G (p.Leu3831Arg) rs777912782 0.00001
NM_001378454.1(ALMS1):c.11516C>T (p.Thr3839Ile) rs376255515 0.00001
NM_001378454.1(ALMS1):c.11547+4C>T rs753353269 0.00001
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn) rs767078704 0.00001
NM_001378454.1(ALMS1):c.11554A>T (p.Asn3852Tyr) rs753182165 0.00001
NM_001378454.1(ALMS1):c.11663A>G (p.Gln3888Arg) rs1675626491 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.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.11797C>T (p.Arg3933Cys) rs1356118595 0.00001
NM_001378454.1(ALMS1):c.11867A>T (p.His3956Leu) rs553786370 0.00001
NM_001378454.1(ALMS1):c.11871A>C (p.Glu3957Asp) rs1205653574 0.00001
NM_001378454.1(ALMS1):c.12299-6G>A rs771317399 0.00001
NM_001378454.1(ALMS1):c.122T>C (p.Val41Ala) rs1558624684 0.00001
NM_001378454.1(ALMS1):c.12312C>G (p.Ile4104Met) rs761844893 0.00001
NM_001378454.1(ALMS1):c.12355T>G (p.Ser4119Ala) rs372734481 0.00001
NM_001378454.1(ALMS1):c.1235C>T (p.Thr412Ile) rs369637082 0.00001
NM_001378454.1(ALMS1):c.12362+5G>C rs771226996 0.00001
NM_001378454.1(ALMS1):c.12367T>G (p.Tyr4123Asp) rs963466695 0.00001
NM_001378454.1(ALMS1):c.12425A>G (p.Tyr4142Cys) rs775032572 0.00001
NM_001378454.1(ALMS1):c.12436C>T (p.Arg4146Trp) rs763519566 0.00001
NM_001378454.1(ALMS1):c.12463-14C>G rs766656843 0.00001
NM_001378454.1(ALMS1):c.12466G>T (p.Val4156Leu) rs779259646 0.00001
NM_001378454.1(ALMS1):c.12473A>T (p.Asn4158Ile) rs752828644 0.00001
NM_001378454.1(ALMS1):c.12496C>T (p.Pro4166Ser) rs267599450 0.00001
NM_001378454.1(ALMS1):c.1270A>G (p.Ile424Val) rs775981299 0.00001
NM_001378454.1(ALMS1):c.12G>C (p.Glu4Asp) rs1260367236 0.00001
NM_001378454.1(ALMS1):c.1339-12G>T rs1260375872 0.00001
NM_001378454.1(ALMS1):c.1345A>G (p.Arg449Gly) rs777458464 0.00001
NM_001378454.1(ALMS1):c.1354G>A (p.Glu452Lys) rs1232628050 0.00001
NM_001378454.1(ALMS1):c.1402G>C (p.Val468Leu) rs1409680993 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.145G>A (p.Glu49Lys) rs1476182899 0.00001
NM_001378454.1(ALMS1):c.1508A>G (p.Asp503Gly) rs771835386 0.00001
NM_001378454.1(ALMS1):c.1517T>C (p.Ile506Thr) rs976096963 0.00001
NM_001378454.1(ALMS1):c.1588A>G (p.Thr530Ala) rs778268073 0.00001
NM_001378454.1(ALMS1):c.159G>C (p.Glu53Asp) rs1245177160 0.00001
NM_001378454.1(ALMS1):c.1636C>T (p.His546Tyr) rs1671845179 0.00001
NM_001378454.1(ALMS1):c.1639C>G (p.Leu547Val) rs1451493287 0.00001
NM_001378454.1(ALMS1):c.1645G>C (p.Glu549Gln) rs1203221115 0.00001
NM_001378454.1(ALMS1):c.1717A>G (p.Ser573Gly) rs143478466 0.00001
NM_001378454.1(ALMS1):c.173C>G (p.Ser58Cys) rs748571359 0.00001
NM_001378454.1(ALMS1):c.1855T>C (p.Ser619Pro) rs921968387 0.00001
NM_001378454.1(ALMS1):c.1859C>A (p.Thr620Asn) rs1447523847 0.00001
NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys) rs193922693 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.2138C>G (p.Ser713Cys) rs771496254 0.00001
NM_001378454.1(ALMS1):c.2155A>G (p.Arg719Gly) rs1446915143 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.2191G>A (p.Ala731Thr) rs1337404560 0.00001
NM_001378454.1(ALMS1):c.219C>G (p.Asp73Glu) rs905373886 0.00001
NM_001378454.1(ALMS1):c.2236A>G (p.Thr746Ala) rs1339477380 0.00001
NM_001378454.1(ALMS1):c.2296C>A (p.Gln766Lys) rs377000488 0.00001
NM_001378454.1(ALMS1):c.2348T>C (p.Leu783Pro) rs1671866214 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.2443G>C (p.Glu815Gln) rs370978261 0.00001
NM_001378454.1(ALMS1):c.244G>C (p.Ala82Pro) rs1453391868 0.00001
NM_001378454.1(ALMS1):c.2466A>G (p.Gln822=) rs755661115 0.00001
NM_001378454.1(ALMS1):c.2477T>G (p.Leu826Arg) rs1343407616 0.00001
NM_001378454.1(ALMS1):c.2521T>C (p.Ser841Pro) rs949198387 0.00001
NM_001378454.1(ALMS1):c.2540A>G (p.Lys847Arg) rs374788400 0.00001
NM_001378454.1(ALMS1):c.2542A>G (p.Thr848Ala) rs777811953 0.00001
NM_001378454.1(ALMS1):c.2576C>T (p.Ala859Val) rs749219852 0.00001
NM_001378454.1(ALMS1):c.25C>T (p.Pro9Ser) rs769538172 0.00001
NM_001378454.1(ALMS1):c.2636A>G (p.His879Arg) rs1671873298 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.2713T>A (p.Ser905Thr) rs1473358206 0.00001
NM_001378454.1(ALMS1):c.2743A>G (p.Ile915Val) rs200704524 0.00001
NM_001378454.1(ALMS1):c.2756A>C (p.Gln919Pro) rs751883638 0.00001
NM_001378454.1(ALMS1):c.2840C>T (p.Thr947Ile) rs576877900 0.00001
NM_001378454.1(ALMS1):c.2872A>T (p.Ser958Cys) rs1259661145 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.2992G>A (p.Val998Ile) rs374849950 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.3064G>T (p.Ala1022Ser) rs1267229357 0.00001
NM_001378454.1(ALMS1):c.308G>T (p.Arg103Leu) rs1574424130 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.325-6T>C rs760582213 0.00001
NM_001378454.1(ALMS1):c.3268C>G (p.Pro1090Ala) rs376232524 0.00001
NM_001378454.1(ALMS1):c.3272C>T (p.Ala1091Val) rs1402063104 0.00001
NM_001378454.1(ALMS1):c.3310G>A (p.Gly1104Ser) rs868703237 0.00001
NM_001378454.1(ALMS1):c.3352A>G (p.Lys1118Glu) rs770713526 0.00001
NM_001378454.1(ALMS1):c.3373G>T (p.Val1125Leu) rs1180431442 0.00001
NM_001378454.1(ALMS1):c.3407C>T (p.Thr1136Ile) rs756805885 0.00001
NM_001378454.1(ALMS1):c.341G>T (p.Cys114Phe) rs1052797474 0.00001
NM_001378454.1(ALMS1):c.3472G>A (p.Ala1158Thr) rs376302473 0.00001
NM_001378454.1(ALMS1):c.3514T>A (p.Ser1172Thr) rs756748918 0.00001
NM_001378454.1(ALMS1):c.3563T>C (p.Leu1188Pro) rs745802005 0.00001
NM_001378454.1(ALMS1):c.3582A>G (p.Gln1194=) rs768478218 0.00001
NM_001378454.1(ALMS1):c.3605A>G (p.Tyr1202Cys) rs772706904 0.00001
NM_001378454.1(ALMS1):c.3623G>A (p.Gly1208Asp) rs765685207 0.00001
NM_001378454.1(ALMS1):c.365A>G (p.Tyr122Cys) rs757838184 0.00001
NM_001378454.1(ALMS1):c.3700C>T (p.Pro1234Ser) rs777259139 0.00001
NM_001378454.1(ALMS1):c.3749A>G (p.Gln1250Arg) rs1332453858 0.00001
NM_001378454.1(ALMS1):c.3764A>G (p.Asp1255Gly) rs773586990 0.00001
NM_001378454.1(ALMS1):c.3770A>G (p.His1257Arg) rs770555189 0.00001
NM_001378454.1(ALMS1):c.3914A>G (p.His1305Arg) rs1394932968 0.00001
NM_001378454.1(ALMS1):c.392C>A (p.Ser131Tyr) rs756453260 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.4057C>A (p.Pro1353Thr) rs1005994594 0.00001
NM_001378454.1(ALMS1):c.4115G>A (p.Gly1372Asp) rs1439442789 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.430C>T (p.Arg144Trp) rs748293128 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.4379G>T (p.Gly1460Val) rs776345925 0.00001
NM_001378454.1(ALMS1):c.442G>A (p.Asp148Asn) rs757606922 0.00001
NM_001378454.1(ALMS1):c.4430C>T (p.Ser1477Leu) rs794727926 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.450+3A>G rs1371008925 0.00001
NM_001378454.1(ALMS1):c.4516C>T (p.Pro1506Ser) rs1233912426 0.00001
NM_001378454.1(ALMS1):c.4610C>A (p.Ala1537Glu) rs766908325 0.00001
NM_001378454.1(ALMS1):c.4616T>C (p.Leu1539Pro) rs368273962 0.00001
NM_001378454.1(ALMS1):c.4643T>C (p.Leu1548Pro) rs745859143 0.00001
NM_001378454.1(ALMS1):c.465G>C (p.Trp155Cys) rs1414087888 0.00001
NM_001378454.1(ALMS1):c.466C>T (p.His156Tyr) rs750004908 0.00001
NM_001378454.1(ALMS1):c.4691C>A (p.Pro1564Gln) rs773841585 0.00001
NM_001378454.1(ALMS1):c.4691C>G (p.Pro1564Arg) rs773841585 0.00001
NM_001378454.1(ALMS1):c.4709C>T (p.Ser1570Phe) rs765461259 0.00001
NM_001378454.1(ALMS1):c.4765C>A (p.His1589Asn) rs771703863 0.00001
NM_001378454.1(ALMS1):c.4788A>C (p.Lys1596Asn) rs925686650 0.00001
NM_001378454.1(ALMS1):c.4789G>A (p.Val1597Ile) rs759914299 0.00001
NM_001378454.1(ALMS1):c.485T>C (p.Met162Thr) rs371903967 0.00001
NM_001378454.1(ALMS1):c.4924G>A (p.Val1642Met) rs763324131 0.00001
NM_001378454.1(ALMS1):c.4942C>A (p.Pro1648Thr) rs754804407 0.00001
NM_001378454.1(ALMS1):c.4943C>G (p.Pro1648Arg) rs372540975 0.00001
NM_001378454.1(ALMS1):c.4976C>A (p.Pro1659Gln) rs199520788 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.5017A>G (p.Ile1673Val) rs773107767 0.00001
NM_001378454.1(ALMS1):c.5035C>G (p.Leu1679Val) rs760829019 0.00001
NM_001378454.1(ALMS1):c.5042A>G (p.Asp1681Gly) rs765044083 0.00001
NM_001378454.1(ALMS1):c.5054C>G (p.Pro1685Arg) rs1671941104 0.00001
NM_001378454.1(ALMS1):c.5077C>T (p.Pro1693Ser) rs1671941473 0.00001
NM_001378454.1(ALMS1):c.5084C>T (p.Pro1695Leu) rs756796770 0.00001
NM_001378454.1(ALMS1):c.5147A>G (p.Glu1716Gly) rs760638961 0.00001
NM_001378454.1(ALMS1):c.516G>T (p.Gln172His) rs767428243 0.00001
NM_001378454.1(ALMS1):c.5172G>C (p.Gln1724His) rs1402153419 0.00001
NM_001378454.1(ALMS1):c.5173G>T (p.Ala1725Ser) rs763052163 0.00001
NM_001378454.1(ALMS1):c.5179C>G (p.Pro1727Ala) rs935844541 0.00001
NM_001378454.1(ALMS1):c.518C>T (p.Thr173Ile) rs1163075641 0.00001
NM_001378454.1(ALMS1):c.5258C>T (p.Thr1753Ile) rs954287768 0.00001
NM_001378454.1(ALMS1):c.5272T>G (p.Phe1758Val) rs1179437667 0.00001
NM_001378454.1(ALMS1):c.5282A>T (p.His1761Leu) rs760251120 0.00001
NM_001378454.1(ALMS1):c.5323G>C (p.Asp1775His) rs747341054 0.00001
NM_001378454.1(ALMS1):c.5343G>C (p.Glu1781Asp) rs1671948778 0.00001
NM_001378454.1(ALMS1):c.5348T>C (p.Leu1783Pro) rs1188079304 0.00001
NM_001378454.1(ALMS1):c.5360A>T (p.Asn1787Ile) rs1671949458 0.00001
NM_001378454.1(ALMS1):c.5425A>G (p.Arg1809Gly) rs1257660889 0.00001
NM_001378454.1(ALMS1):c.543T>A (p.Asp181Glu) rs1029393339 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.556G>C (p.Asp186His) rs1044951470 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.5615C>T (p.Thr1872Ile) rs762339692 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.5761T>G (p.Phe1921Val) rs545488125 0.00001
NM_001378454.1(ALMS1):c.5767G>C (p.Val1923Leu) rs772665115 0.00001
NM_001378454.1(ALMS1):c.5777A>G (p.Gln1926Arg) rs376161519 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.5905C>G (p.Pro1969Ala) rs552496175 0.00001
NM_001378454.1(ALMS1):c.5921C>G (p.Ala1974Gly) rs563067980 0.00001
NM_001378454.1(ALMS1):c.5956A>G (p.Ser1986Gly) rs778684767 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.6033T>G (p.Phe2011Leu) rs1671969545 0.00001
NM_001378454.1(ALMS1):c.6049A>G (p.Ser2017Gly) rs1021572525 0.00001
NM_001378454.1(ALMS1):c.6059C>T (p.Ser2020Leu) rs372116790 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.6077A>G (p.Lys2026Arg) rs367904732 0.00001
NM_001378454.1(ALMS1):c.6092T>C (p.Ile2031Thr) rs374673974 0.00001
NM_001378454.1(ALMS1):c.6121C>G (p.Gln2041Glu) rs780824087 0.00001
NM_001378454.1(ALMS1):c.6138T>G (p.Ser2046Arg) rs780566681 0.00001
NM_001378454.1(ALMS1):c.6166A>G (p.Ile2056Val) rs747108462 0.00001
NM_001378454.1(ALMS1):c.6190G>A (p.Asp2064Asn) rs183773481 0.00001
NM_001378454.1(ALMS1):c.6199C>G (p.Gln2067Glu) rs886042711 0.00001
NM_001378454.1(ALMS1):c.6203G>C (p.Ser2068Thr) rs749979595 0.00001
NM_001378454.1(ALMS1):c.6218A>G (p.Lys2073Arg) rs1381524403 0.00001
NM_001378454.1(ALMS1):c.6229G>A (p.Val2077Ile) rs779402813 0.00001
NM_001378454.1(ALMS1):c.6251A>G (p.Asn2084Ser) rs771084714 0.00001
NM_001378454.1(ALMS1):c.6350A>G (p.Asp2117Gly) rs1671977745 0.00001
NM_001378454.1(ALMS1):c.6359A>G (p.Lys2120Arg) rs745919138 0.00001
NM_001378454.1(ALMS1):c.6415C>T (p.Pro2139Ser) rs772858451 0.00001
NM_001378454.1(ALMS1):c.646+8C>G rs760012033 0.00001
NM_001378454.1(ALMS1):c.647-5T>C rs913268523 0.00001
NM_001378454.1(ALMS1):c.6477A>T (p.Arg2159Ser) rs772943318 0.00001
NM_001378454.1(ALMS1):c.6478C>T (p.His2160Tyr) rs1479606549 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.6529C>G (p.Gln2177Glu) rs776108315 0.00001
NM_001378454.1(ALMS1):c.6538G>A (p.Gly2180Arg) rs145953016 0.00001
NM_001378454.1(ALMS1):c.6563C>G (p.Thr2188Ser) rs752016657 0.00001
NM_001378454.1(ALMS1):c.6584A>T (p.His2195Leu) rs1671984408 0.00001
NM_001378454.1(ALMS1):c.6604G>A (p.Val2202Ile) rs371544118 0.00001
NM_001378454.1(ALMS1):c.6620A>G (p.Asp2207Gly) rs756953806 0.00001
NM_001378454.1(ALMS1):c.6629A>T (p.Asn2210Ile) rs1026749292 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.6889T>A (p.Ser2297Thr) rs771228376 0.00001
NM_001378454.1(ALMS1):c.6902T>C (p.Val2301Ala) rs759819986 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.7079G>C (p.Arg2360Thr) rs1402057300 0.00001
NM_001378454.1(ALMS1):c.7172A>T (p.Glu2391Val) rs368310126 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.739A>G (p.Ser247Gly) rs1055600080 0.00001
NM_001378454.1(ALMS1):c.7404T>A (p.Ser2468Arg) rs749127545 0.00001
NM_001378454.1(ALMS1):c.7411G>A (p.Gly2471Ser) rs1019293474 0.00001
NM_001378454.1(ALMS1):c.7426G>A (p.Val2476Ile) rs772752104 0.00001
NM_001378454.1(ALMS1):c.7447G>A (p.Val2483Met) rs754242152 0.00001
NM_001378454.1(ALMS1):c.7526G>A (p.Arg2509Gln) rs551433143 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.7568A>G (p.His2523Arg) rs763422515 0.00001
NM_001378454.1(ALMS1):c.764+4G>A rs1167438151 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.7714G>A (p.Ala2572Thr) rs1171656515 0.00001
NM_001378454.1(ALMS1):c.776A>G (p.Asp259Gly) rs369122370 0.00001
NM_001378454.1(ALMS1):c.7780C>T (p.His2594Tyr) rs754585700 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.7850A>G (p.Gln2617Arg) rs749293224 0.00001
NM_001378454.1(ALMS1):c.7883A>G (p.Asn2628Ser) rs776280658 0.00001
NM_001378454.1(ALMS1):c.8031C>A (p.Asp2677Glu) rs754078506 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.8117A>G (p.Glu2706Gly) rs768090632 0.00001
NM_001378454.1(ALMS1):c.8138C>T (p.Thr2713Ile) rs1672944551 0.00001
NM_001378454.1(ALMS1):c.8140T>C (p.Ser2714Pro) rs1245467740 0.00001
NM_001378454.1(ALMS1):c.8162G>A (p.Arg2721Gln) rs745857579 0.00001
NM_001378454.1(ALMS1):c.8195T>C (p.Val2732Ala) rs200859630 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.8488T>A (p.Cys2830Ser) rs993209212 0.00001
NM_001378454.1(ALMS1):c.8541G>T (p.Met2847Ile) rs1183007080 0.00001
NM_001378454.1(ALMS1):c.8560C>G (p.Leu2854Val) rs765176591 0.00001
NM_001378454.1(ALMS1):c.8638A>G (p.Ile2880Val) rs767384464 0.00001
NM_001378454.1(ALMS1):c.8654G>A (p.Arg2885Gln) rs185447739 0.00001
NM_001378454.1(ALMS1):c.8673C>A (p.Ser2891Arg) rs755823751 0.00001
NM_001378454.1(ALMS1):c.8686G>A (p.Ala2896Thr) rs779240181 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.8758T>C (p.Ser2920Pro) rs1398652795 0.00001
NM_001378454.1(ALMS1):c.8794C>G (p.Gln2932Glu) rs757528252 0.00001
NM_001378454.1(ALMS1):c.8842C>T (p.Pro2948Ser) rs1171275378 0.00001
NM_001378454.1(ALMS1):c.8849C>A (p.Pro2950His) rs777913623 0.00001
NM_001378454.1(ALMS1):c.8864C>G (p.Ser2955Cys) rs1248081824 0.00001
NM_001378454.1(ALMS1):c.8875G>C (p.Asp2959His) rs375254366 0.00001
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=) rs777796888 0.00001
NM_001378454.1(ALMS1):c.8960T>C (p.Leu2987Pro) rs1465260699 0.00001
NM_001378454.1(ALMS1):c.8974G>T (p.Asp2992Tyr) rs937731506 0.00001
NM_001378454.1(ALMS1):c.901A>C (p.Ile301Leu) rs534913971 0.00001
NM_001378454.1(ALMS1):c.9029T>C (p.Ile3010Thr) rs780894681 0.00001
NM_001378454.1(ALMS1):c.9073C>A (p.Pro3025Thr) rs773480197 0.00001
NM_001378454.1(ALMS1):c.9088T>G (p.Leu3030Val) rs754181473 0.00001
NM_001378454.1(ALMS1):c.9109C>T (p.Pro3037Ser) rs752792682 0.00001
NM_001378454.1(ALMS1):c.9143A>C (p.His3048Pro) rs866416012 0.00001
NM_001378454.1(ALMS1):c.9161A>G (p.Lys3054Arg) rs778324244 0.00001
NM_001378454.1(ALMS1):c.9191T>C (p.Leu3064Ser) rs1434010689 0.00001
NM_001378454.1(ALMS1):c.9214G>C (p.Asp3072His) rs1022898016 0.00001
NM_001378454.1(ALMS1):c.9275C>T (p.Ser3092Leu) rs1394971174 0.00001
NM_001378454.1(ALMS1):c.9292A>T (p.Thr3098Ser) rs1280854716 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.9392C>T (p.Ser3131Phe) rs144588413 0.00001
NM_001378454.1(ALMS1):c.9397C>G (p.Pro3133Ala) rs45493191 0.00001
NM_001378454.1(ALMS1):c.9442C>A (p.Gln3148Lys) rs917667192 0.00001
NM_001378454.1(ALMS1):c.9454A>G (p.Ile3152Val) rs761831256 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.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.9545C>T (p.Pro3182Leu) rs1475730829 0.00001
NM_001378454.1(ALMS1):c.9579T>A (p.Ser3193=) rs769786449 0.00001
NM_001378454.1(ALMS1):c.9581A>G (p.Glu3194Gly) rs1673634547 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.9628G>A (p.Glu3210Lys) rs961373884 0.00001
NM_001378454.1(ALMS1):c.9631A>G (p.Lys3211Glu) rs770987613 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.9669A>C (p.Glu3223Asp) rs376206840 0.00001
NM_001378454.1(ALMS1):c.9674G>A (p.Arg3225His) rs765685958 0.00001
NM_001378454.1(ALMS1):c.9702C>G (p.Asn3234Lys) rs771376818 0.00001
NM_001378454.1(ALMS1):c.9757G>T (p.Val3253Phe) rs751917932 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.9803A>G (p.Tyr3268Cys) rs375515965 0.00001
NM_001378454.1(ALMS1):c.9808C>T (p.Pro3270Ser) rs1673992958 0.00001
NM_001378454.1(ALMS1):c.9830A>G (p.Tyr3277Cys) rs200826787 0.00001
NM_001378454.1(ALMS1):c.9871T>C (p.Ser3291Pro) rs759591871 0.00001
NM_015120.4(ALMS1):c.-53C>T rs868088238 0.00001
NC_000002.11:g.(?_73612997)_(73747163_?)dup
NC_000002.11:g.(?_73676196)_(73677479_?)del
NC_000002.11:g.(?_73761931)_(73762096_?)del
NC_000002.11:g.(?_73777374)_(73777584_?)del
NC_000002.11:g.(?_73784327)_(73786289_?)del
NC_000002.11:g.(?_73799369)_(73836739_?)dup
NC_000002.11:g.(?_73830348)_(73836739_?)del
NC_000002.11:g.(?_73835582)_(73836739_?)del
NC_000002.11:g.(?_73835582)_(73836739_?)dup
NC_000002.12:g.(?_73603231)_(73609622_?)del
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.10004G>A (p.Gly3335Glu)
NM_001378454.1(ALMS1):c.10010A>G (p.Tyr3337Cys) rs1674404167
NM_001378454.1(ALMS1):c.10012A>C (p.Ser3338Arg)
NM_001378454.1(ALMS1):c.10016A>G (p.Lys3339Arg)
NM_001378454.1(ALMS1):c.10017G>A (p.Lys3339=)
NM_001378454.1(ALMS1):c.10030A>G (p.Lys3344Glu) rs1674404816
NM_001378454.1(ALMS1):c.1003G>A (p.Asp335Asn)
NM_001378454.1(ALMS1):c.10042C>T (p.Pro3348Ser)
NM_001378454.1(ALMS1):c.10047G>T (p.Val3349=)
NM_001378454.1(ALMS1):c.10064A>G (p.Gln3355Arg)
NM_001378454.1(ALMS1):c.10064A>T (p.Gln3355Leu)
NM_001378454.1(ALMS1):c.10078+14C>T
NM_001378454.1(ALMS1):c.10079-11C>A rs368250605
NM_001378454.1(ALMS1):c.10079-19A>G rs935864365
NM_001378454.1(ALMS1):c.10079-4C>G rs1446726516
NM_001378454.1(ALMS1):c.10082C>A (p.Ala3361Asp) rs1195894910
NM_001378454.1(ALMS1):c.10093G>T (p.Val3365Leu) rs1316719149
NM_001378454.1(ALMS1):c.10103C>G (p.Thr3368Ser) rs1270212178
NM_001378454.1(ALMS1):c.10105G>A (p.Gly3369Arg)
NM_001378454.1(ALMS1):c.10106G>A (p.Gly3369Glu) rs2104057922
NM_001378454.1(ALMS1):c.10108G>A (p.Asp3370Asn) rs751123703
NM_001378454.1(ALMS1):c.10115A>C (p.Asn3372Thr)
NM_001378454.1(ALMS1):c.1012C>T (p.Arg338Cys) rs867586310
NM_001378454.1(ALMS1):c.10130A>C (p.Lys3377Thr)
NM_001378454.1(ALMS1):c.1013G>A (p.Arg338His)
NM_001378454.1(ALMS1):c.10140G>C (p.Glu3380Asp) rs1045473444
NM_001378454.1(ALMS1):c.10153_10158dup (p.Ala3386_Val3387insArgAla)
NM_001378454.1(ALMS1):c.10166A>C (p.Glu3389Ala)
NM_001378454.1(ALMS1):c.10177G>C (p.Ala3393Pro) rs145678202
NM_001378454.1(ALMS1):c.10177G>T (p.Ala3393Ser) rs145678202
NM_001378454.1(ALMS1):c.10178C>G (p.Ala3393Gly) rs1231100277
NM_001378454.1(ALMS1):c.10180A>G (p.Lys3394Glu) rs886056316
NM_001378454.1(ALMS1):c.10187A>G (p.Lys3396Arg)
NM_001378454.1(ALMS1):c.10199A>C (p.Gln3400Pro)
NM_001378454.1(ALMS1):c.10204G>T (p.Asp3402Tyr)
NM_001378454.1(ALMS1):c.10208C>G (p.Thr3403Ser) rs1231406875
NM_001378454.1(ALMS1):c.10210G>T (p.Ala3404Ser)
NM_001378454.1(ALMS1):c.10213+3A>G rs1553416881
NM_001378454.1(ALMS1):c.10213G>A (p.Asp3405Asn)
NM_001378454.1(ALMS1):c.10213G>T (p.Asp3405Tyr) rs2104058482
NM_001378454.1(ALMS1):c.10214-11C>G rs1365430683
NM_001378454.1(ALMS1):c.10221TGC[6] (p.Ala3412dup) rs760731440
NM_001378454.1(ALMS1):c.10226C>G (p.Ala3409Gly)
NM_001378454.1(ALMS1):c.1022A>G (p.Asp341Gly) rs762728069
NM_001378454.1(ALMS1):c.10234G>T (p.Ala3412Ser) rs1454233838
NM_001378454.1(ALMS1):c.10241A>G (p.His3414Arg) rs1674601435
NM_001378454.1(ALMS1):c.10244C>T (p.Ser3415Leu)
NM_001378454.1(ALMS1):c.10249C>G (p.Gln3417Glu)
NM_001378454.1(ALMS1):c.10252G>A (p.Val3418Ile)
NM_001378454.1(ALMS1):c.10269GAA[1] (p.Lys3424del) rs1184260245
NM_001378454.1(ALMS1):c.10279C>A (p.Pro3427Thr) rs2104063862
NM_001378454.1(ALMS1):c.10284C>G (p.Asp3428Glu) rs2104063874
NM_001378454.1(ALMS1):c.10294A>C (p.Ile3432Leu) rs2104063946
NM_001378454.1(ALMS1):c.10304A>T (p.Lys3435Ile)
NM_001378454.1(ALMS1):c.10308G>A (p.Glu3436=)
NM_001378454.1(ALMS1):c.10313T>C (p.Ile3438Thr) rs1674603162
NM_001378454.1(ALMS1):c.10316A>G (p.His3439Arg) rs139425340
NM_001378454.1(ALMS1):c.10326G>C (p.Lys3442Asn)
NM_001378454.1(ALMS1):c.10330G>A (p.Val3444Ile)
NM_001378454.1(ALMS1):c.10333C>T (p.Pro3445Ser) rs267599448
NM_001378454.1(ALMS1):c.10334_10335delinsTA (p.Pro3445Leu)
NM_001378454.1(ALMS1):c.10336G>A (p.Glu3446Lys)
NM_001378454.1(ALMS1):c.10353C>A (p.Asn3451Lys) rs1209953727
NM_001378454.1(ALMS1):c.10358A>G (p.Lys3453Arg)
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.10375A>C (p.Asn3459His)
NM_001378454.1(ALMS1):c.10375A>G (p.Asn3459Asp) rs773439063
NM_001378454.1(ALMS1):c.10377T>A (p.Asn3459Lys) rs2104064364
NM_001378454.1(ALMS1):c.10378A>G (p.Ile3460Val)
NM_001378454.1(ALMS1):c.10381G>A (p.Glu3461Lys)
NM_001378454.1(ALMS1):c.10384+1632G>A
NM_001378454.1(ALMS1):c.10384+2dup rs1255846889
NM_001378454.1(ALMS1):c.10384+4A>G rs2104064401
NM_001378454.1(ALMS1):c.10384+5T>C rs758235228
NM_001378454.1(ALMS1):c.10385-16T>A
NM_001378454.1(ALMS1):c.10385-7T>G rs1298945759
NM_001378454.1(ALMS1):c.10412A>C (p.Asn3471Thr) rs2104103500
NM_001378454.1(ALMS1):c.10417A>T (p.Thr3473Ser) rs2104103542
NM_001378454.1(ALMS1):c.10421G>A (p.Arg3474His)
NM_001378454.1(ALMS1):c.10424C>G (p.Ser3475Cys)
NM_001378454.1(ALMS1):c.10443G>C (p.Lys3481Asn)
NM_001378454.1(ALMS1):c.10448A>G (p.Tyr3483Cys) rs2104103714
NM_001378454.1(ALMS1):c.10458_10466dup (p.Pro3487_His3489dup) rs1553418413
NM_001378454.1(ALMS1):c.10460C>T (p.Pro3487Leu) rs1674947337
NM_001378454.1(ALMS1):c.10462G>A (p.Val3488Ile)
NM_001378454.1(ALMS1):c.10474A>G (p.Ser3492Gly)
NM_001378454.1(ALMS1):c.10481A>G (p.Gln3494Arg) rs1553418430
NM_001378454.1(ALMS1):c.10483G>A (p.Asp3495Asn) rs533617405
NM_001378454.1(ALMS1):c.10490G>A (p.Cys3497Tyr)
NM_001378454.1(ALMS1):c.10490G>C (p.Cys3497Ser)
NM_001378454.1(ALMS1):c.104_106dup (p.Ala35_Asn36insThr)
NM_001378454.1(ALMS1):c.10510A>G (p.Ser3504Gly) rs45585940
NM_001378454.1(ALMS1):c.10511G>A (p.Ser3504Asn) rs1558699257
NM_001378454.1(ALMS1):c.10519A>G (p.Met3507Val) rs1350031802
NM_001378454.1(ALMS1):c.10537G>T (p.Asp3513Tyr) rs1674949916
NM_001378454.1(ALMS1):c.10558G>C (p.Asp3520His) rs1403094265
NM_001378454.1(ALMS1):c.10562A>G (p.Lys3521Arg)
NM_001378454.1(ALMS1):c.10565A>G (p.His3522Arg)
NM_001378454.1(ALMS1):c.10575C>A (p.His3525Gln) rs1674954136
NM_001378454.1(ALMS1):c.10578G>C (p.Met3526Ile)
NM_001378454.1(ALMS1):c.10588C>G (p.Leu3530Val)
NM_001378454.1(ALMS1):c.10588C>T (p.Leu3530Phe) rs781331448
NM_001378454.1(ALMS1):c.10592C>G (p.Pro3531Arg) rs2104104344
NM_001378454.1(ALMS1):c.10602C>T (p.Asn3534=)
NM_001378454.1(ALMS1):c.10603A>G (p.Met3535Val) rs769907792
NM_001378454.1(ALMS1):c.10607A>G (p.Asp3536Gly)
NM_001378454.1(ALMS1):c.10612A>G (p.Thr3538Ala) rs1225039531
NM_001378454.1(ALMS1):c.10613C>T (p.Thr3538Ile)
NM_001378454.1(ALMS1):c.10616A>C (p.Lys3539Thr) rs1223712611
NM_001378454.1(ALMS1):c.10621G>A (p.Asp3541Asn)
NM_001378454.1(ALMS1):c.10625A>T (p.Tyr3542Phe)
NM_001378454.1(ALMS1):c.1062A>T (p.Thr354=)
NM_001378454.1(ALMS1):c.10641C>G (p.Ser3547Arg) rs893243465
NM_001378454.1(ALMS1):c.10643T>A (p.Leu3548His) rs1674958037
NM_001378454.1(ALMS1):c.1064A>G (p.Gln355Arg)
NM_001378454.1(ALMS1):c.10652A>G (p.Asn3551Ser) rs868744829
NM_001378454.1(ALMS1):c.10668C>G (p.Asn3556Lys)
NM_001378454.1(ALMS1):c.10671A>C (p.Lys3557Asn) rs1674959132
NM_001378454.1(ALMS1):c.10679T>C (p.Met3560Thr) rs752203028
NM_001378454.1(ALMS1):c.10679T>G (p.Met3560Arg) rs752203028
NM_001378454.1(ALMS1):c.10685C>G (p.Thr3562Ser) rs1674959661
NM_001378454.1(ALMS1):c.10693A>T (p.Ser3565Cys)
NM_001378454.1(ALMS1):c.1069C>A (p.Pro357Thr) rs2103715581
NM_001378454.1(ALMS1):c.10703G>C (p.Arg3568Thr)
NM_001378454.1(ALMS1):c.10709A>G (p.Tyr3570Cys) rs2104104820
NM_001378454.1(ALMS1):c.10721A>G (p.Asn3574Ser)
NM_001378454.1(ALMS1):c.10731T>C (p.Ile3577=) rs1553418487
NM_001378454.1(ALMS1):c.10733G>A (p.Ser3578Asn)
NM_001378454.1(ALMS1):c.10735G>C (p.Asp3579His) rs1450650278
NM_001378454.1(ALMS1):c.10736A>G (p.Asp3579Gly)
NM_001378454.1(ALMS1):c.10750C>G (p.Gln3584Glu)
NM_001378454.1(ALMS1):c.10753_10755del (p.Lys3585del)
NM_001378454.1(ALMS1):c.10759A>G (p.Thr3587Ala)
NM_001378454.1(ALMS1):c.10768C>G (p.Gln3590Glu) rs1674961683
NM_001378454.1(ALMS1):c.10771A>G (p.Thr3591Ala)
NM_001378454.1(ALMS1):c.10772C>T (p.Thr3591Ile) rs773091397
NM_001378454.1(ALMS1):c.10778A>G (p.Gln3593Arg)
NM_001378454.1(ALMS1):c.10792T>G (p.Leu3598Val)
NM_001378454.1(ALMS1):c.10808A>G (p.Asn3603Ser)
NM_001378454.1(ALMS1):c.10819G>A (p.Glu3607Lys)
NM_001378454.1(ALMS1):c.10822C>G (p.Arg3608Gly)
NM_001378454.1(ALMS1):c.10826A>G (p.Gln3609Arg) rs886056317
NM_001378454.1(ALMS1):c.10827G>C (p.Gln3609His) rs2104105279
NM_001378454.1(ALMS1):c.10828A>G (p.Arg3610Gly)
NM_001378454.1(ALMS1):c.10842G>T (p.Gln3614His)
NM_001378454.1(ALMS1):c.10853G>A (p.Gly3618Asp)
NM_001378454.1(ALMS1):c.10868T>C (p.Leu3623Pro)
NM_001378454.1(ALMS1):c.10873T>A (p.Leu3625Met)
NM_001378454.1(ALMS1):c.10885C>T (p.Leu3629Phe)
NM_001378454.1(ALMS1):c.10886T>C (p.Leu3629Pro)
NM_001378454.1(ALMS1):c.10903A>G (p.Ile3635Val) rs1674966271
NM_001378454.1(ALMS1):c.10906C>A (p.Leu3636Ile) rs1573030520
NM_001378454.1(ALMS1):c.10907T>C (p.Leu3636Pro) rs2104105685
NM_001378454.1(ALMS1):c.10909C>G (p.Gln3637Glu) rs754108525
NM_001378454.1(ALMS1):c.10918A>G (p.Ile3640Val)
NM_001378454.1(ALMS1):c.10925A>G (p.His3642Arg) rs1240495775
NM_001378454.1(ALMS1):c.10930C>G (p.Leu3644Val) rs1060500033
NM_001378454.1(ALMS1):c.1093G>T (p.Asp365Tyr) rs1229379546
NM_001378454.1(ALMS1):c.10942G>A (p.Glu3648Lys) rs397514576
NM_001378454.1(ALMS1):c.10946G>A (p.Ser3649Asn) rs2104105859
NM_001378454.1(ALMS1):c.10951C>T (p.His3651Tyr)
NM_001378454.1(ALMS1):c.10952A>G (p.His3651Arg) rs1294645835
NM_001378454.1(ALMS1):c.10966G>A (p.Gly3656Arg) rs1674968038
NM_001378454.1(ALMS1):c.10967G>A (p.Gly3656Glu)
NM_001378454.1(ALMS1):c.1097A>G (p.Gln366Arg) rs2103715685
NM_001378454.1(ALMS1):c.10987T>G (p.Trp3663Gly) rs748921342
NM_001378454.1(ALMS1):c.10994G>T (p.Gly3665Val)
NM_001378454.1(ALMS1):c.11006A>G (p.Gln3669Arg) rs773767346
NM_001378454.1(ALMS1):c.11009G>C (p.Arg3670Thr) rs1674969661
NM_001378454.1(ALMS1):c.11028G>T (p.Lys3676Asn)
NM_001378454.1(ALMS1):c.1102T>G (p.Ser368Ala)
NM_001378454.1(ALMS1):c.11044C>G (p.Leu3682Val) rs1674970712
NM_001378454.1(ALMS1):c.11045_11056del (p.Leu3682_Ser3685del) rs757734472
NM_001378454.1(ALMS1):c.11057A>G (p.His3686Arg) rs912853018
NM_001378454.1(ALMS1):c.11057A>T (p.His3686Leu)
NM_001378454.1(ALMS1):c.11066C>T (p.Thr3689Ile)
NM_001378454.1(ALMS1):c.1106T>C (p.Val369Ala)
NM_001378454.1(ALMS1):c.11084G>A (p.Ser3695Asn) rs780014956
NM_001378454.1(ALMS1):c.11091G>A (p.Val3697=)
NM_001378454.1(ALMS1):c.11099ATC[1] (p.His3701del) rs1426150645
NM_001378454.1(ALMS1):c.110T>G (p.Val37Gly)
NM_001378454.1(ALMS1):c.11105G>T (p.Arg3702Leu)
NM_001378454.1(ALMS1):c.11107G>T (p.Ala3703Ser)
NM_001378454.1(ALMS1):c.11115G>T (p.Arg3705Ser) rs2104106559
NM_001378454.1(ALMS1):c.11119A>C (p.Asn3707His) rs200464290
NM_001378454.1(ALMS1):c.11119A>G (p.Asn3707Asp)
NM_001378454.1(ALMS1):c.11127T>G (p.Ile3709Met) rs2104106623
NM_001378454.1(ALMS1):c.11140A>G (p.Ile3714Val) rs370536187
NM_001378454.1(ALMS1):c.11150A>G (p.Asp3717Gly)
NM_001378454.1(ALMS1):c.11164A>G (p.Ser3722Gly) rs2104106753
NM_001378454.1(ALMS1):c.11177G>A (p.Gly3726Asp)
NM_001378454.1(ALMS1):c.11200T>A (p.Ser3734Thr) rs1209512957
NM_001378454.1(ALMS1):c.11201C>A (p.Ser3734Tyr)
NM_001378454.1(ALMS1):c.11204C>G (p.Ser3735Trp)
NM_001378454.1(ALMS1):c.11206G>C (p.Asp3736His)
NM_001378454.1(ALMS1):c.11207A>G (p.Asp3736Gly)
NM_001378454.1(ALMS1):c.11210G>A (p.Cys3737Tyr) rs1553418562
NM_001378454.1(ALMS1):c.11212C>T (p.Arg3738Trp)
NM_001378454.1(ALMS1):c.11213G>C (p.Arg3738Pro)
NM_001378454.1(ALMS1):c.11225A>T (p.Glu3742Val) rs1674978014
NM_001378454.1(ALMS1):c.1123A>G (p.Ile375Val)
NM_001378454.1(ALMS1):c.11240C>G (p.Thr3747Arg) rs2104107105
NM_001378454.1(ALMS1):c.11246C>A (p.Thr3749Asn)
NM_001378454.1(ALMS1):c.11246C>G (p.Thr3749Ser)
NM_001378454.1(ALMS1):c.11251A>G (p.Thr3751Ala)
NM_001378454.1(ALMS1):c.11254A>C (p.Asn3752His) rs777251736
NM_001378454.1(ALMS1):c.11260C>G (p.Leu3754Val)
NM_001378454.1(ALMS1):c.11263T>A (p.Ser3755Thr) rs878854995
NM_001378454.1(ALMS1):c.11268CAC[1] (p.Thr3758del)
NM_001378454.1(ALMS1):c.1126A>C (p.Thr376Pro) rs376750978
NM_001378454.1(ALMS1):c.11272A>G (p.Thr3758Ala)
NM_001378454.1(ALMS1):c.11278_11280del (p.Thr3760del)
NM_001378454.1(ALMS1):c.11279C>G (p.Thr3760Ser) rs370381761
NM_001378454.1(ALMS1):c.11282T>A (p.Val3761Asp)
NM_001378454.1(ALMS1):c.11308G>T (p.Asp3770Tyr)
NM_001378454.1(ALMS1):c.11309A>G (p.Asp3770Gly) rs770147613
NM_001378454.1(ALMS1):c.11319G>A (p.Val3773=)
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.11326C>T (p.His3776Tyr) rs2104107559
NM_001378454.1(ALMS1):c.11327A>C (p.His3776Pro)
NM_001378454.1(ALMS1):c.11328C>G (p.His3776Gln) rs45596541
NM_001378454.1(ALMS1):c.11332A>T (p.Arg3778Trp) rs773130069
NM_001378454.1(ALMS1):c.11339G>T (p.Ser3780Ile) rs1674982019
NM_001378454.1(ALMS1):c.11340C>A (p.Ser3780Arg) rs2104107651
NM_001378454.1(ALMS1):c.11341T>C (p.Ser3781Pro)
NM_001378454.1(ALMS1):c.11354T>C (p.Ile3785Thr)
NM_001378454.1(ALMS1):c.11363C>G (p.Ala3788Gly)
NM_001378454.1(ALMS1):c.11366G>A (p.Arg3789Gln) rs1167052698
NM_001378454.1(ALMS1):c.11372T>C (p.Ile3791Thr)
NM_001378454.1(ALMS1):c.11373T>G (p.Ile3791Met) rs758244336
NM_001378454.1(ALMS1):c.11377G>T (p.Ala3793Ser)
NM_001378454.1(ALMS1):c.11378C>G (p.Ala3793Gly)
NM_001378454.1(ALMS1):c.1138A>G (p.Ile380Val)
NM_001378454.1(ALMS1):c.11392A>G (p.Arg3798Gly) rs1674983774
NM_001378454.1(ALMS1):c.11393G>C (p.Arg3798Thr) rs1006564458
NM_001378454.1(ALMS1):c.11398T>C (p.Cys3800Arg)
NM_001378454.1(ALMS1):c.11405C>T (p.Ser3802Leu)
NM_001378454.1(ALMS1):c.11408C>G (p.Pro3803Arg) rs2104108029
NM_001378454.1(ALMS1):c.11411G>A (p.Arg3804Lys) rs201028172
NM_001378454.1(ALMS1):c.11429G>A (p.Ser3810Asn)
NM_001378454.1(ALMS1):c.11430C>A (p.Ser3810Arg)
NM_001378454.1(ALMS1):c.11432G>A (p.Ser3811Asn)
NM_001378454.1(ALMS1):c.11434A>C (p.Ile3812Leu)
NM_001378454.1(ALMS1):c.11438C>G (p.Thr3813Ser) rs1183268252
NM_001378454.1(ALMS1):c.11441A>G (p.Asn3814Ser) rs763907736
NM_001378454.1(ALMS1):c.11450G>A (p.Arg3817Lys) rs909204912
NM_001378454.1(ALMS1):c.11455T>A (p.Tyr3819Asn) rs761539239
NM_001378454.1(ALMS1):c.1147A>G (p.Lys383Glu) rs1671348306
NM_001378454.1(ALMS1):c.11481C>T (p.Ser3827=) rs549156484
NM_001378454.1(ALMS1):c.11498C>T (p.Thr3833Ile) rs776648380
NM_001378454.1(ALMS1):c.11511A>G (p.Leu3837=) rs374164508
NM_001378454.1(ALMS1):c.11515A>G (p.Thr3839Ala) rs761578558
NM_001378454.1(ALMS1):c.11521G>A (p.Glu3841Lys)
NM_001378454.1(ALMS1):c.11546A>G (p.Gln3849Arg) rs1674988399
NM_001378454.1(ALMS1):c.11547+5A>C rs1181494101
NM_001378454.1(ALMS1):c.11547+5A>G
NM_001378454.1(ALMS1):c.11547+6T>C
NM_001378454.1(ALMS1):c.11548-12_11548-11del rs767458195
NM_001378454.1(ALMS1):c.11548-8T>C
NM_001378454.1(ALMS1):c.11548G>T (p.Val3850Leu)
NM_001378454.1(ALMS1):c.11551G>A (p.Ala3851Thr) rs1454003034
NM_001378454.1(ALMS1):c.11559T>A (p.His3853Gln) rs186141821
NM_001378454.1(ALMS1):c.11559T>G (p.His3853Gln) rs186141821
NM_001378454.1(ALMS1):c.11596A>G (p.Ser3866Gly) rs2104188910
NM_001378454.1(ALMS1):c.115G>A (p.Asp39Asn)
NM_001378454.1(ALMS1):c.115G>T (p.Asp39Tyr) rs2104058286
NM_001378454.1(ALMS1):c.11601C>G (p.Phe3867Leu) rs80009262
NM_001378454.1(ALMS1):c.11605A>T (p.Ser3869Cys) rs886056318
NM_001378454.1(ALMS1):c.11612A>T (p.Asn3871Ile)
NM_001378454.1(ALMS1):c.11641C>G (p.His3881Asp)
NM_001378454.1(ALMS1):c.11645T>C (p.Met3882Thr)
NM_001378454.1(ALMS1):c.11646_11648dup (p.Leu3883dup) rs1468861836
NM_001378454.1(ALMS1):c.1165G>C (p.Asp389His) rs1671348747
NM_001378454.1(ALMS1):c.11662C>G (p.Gln3888Glu) rs541024346
NM_001378454.1(ALMS1):c.11665G>A (p.Ala3889Thr)
NM_001378454.1(ALMS1):c.11667A>G (p.Ala3889=) rs767848384
NM_001378454.1(ALMS1):c.11668+3A>G rs2104189383
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.11688C>A (p.Asn3896Lys)
NM_001378454.1(ALMS1):c.11690G>A (p.Gly3897Asp)
NM_001378454.1(ALMS1):c.11695A>G (p.Lys3899Glu)
NM_001378454.1(ALMS1):c.11700A>C (p.Lys3900Asn) rs1224532344
NM_001378454.1(ALMS1):c.11710G>T (p.Asp3904Tyr)
NM_001378454.1(ALMS1):c.11711A>G (p.Asp3904Gly)
NM_001378454.1(ALMS1):c.11714T>C (p.Val3905Ala)
NM_001378454.1(ALMS1):c.11726T>C (p.Phe3909Ser)
NM_001378454.1(ALMS1):c.11743A>C (p.Ser3915Arg)
NM_001378454.1(ALMS1):c.11747A>G (p.Glu3916Gly) rs2104193436
NM_001378454.1(ALMS1):c.1174C>A (p.Arg392Ser) rs3813227
NM_001378454.1(ALMS1):c.11755T>G (p.Leu3919Val) rs750372739
NM_001378454.1(ALMS1):c.11756T>G (p.Leu3919Trp)
NM_001378454.1(ALMS1):c.11766C>G (p.Asn3922Lys) rs2104193506
NM_001378454.1(ALMS1):c.11777CTT[1] (p.Ser3927del) rs1553421645
NM_001378454.1(ALMS1):c.11798G>T (p.Arg3933Leu) rs45576434
NM_001378454.1(ALMS1):c.11802A>C (p.Glu3934Asp)
NM_001378454.1(ALMS1):c.11821G>T (p.Gly3941Cys) rs61741524
NM_001378454.1(ALMS1):c.11827C>G (p.Pro3943Ala)
NM_001378454.1(ALMS1):c.11840A>G (p.Lys3947Arg)
NM_001378454.1(ALMS1):c.11849A>C (p.Lys3950Thr) rs2104194109
NM_001378454.1(ALMS1):c.11850G>T (p.Lys3950Asn)
NM_001378454.1(ALMS1):c.11853C>A (p.Asn3951Lys)
NM_001378454.1(ALMS1):c.11853C>G (p.Asn3951Lys) rs577759803
NM_001378454.1(ALMS1):c.11854A>C (p.Lys3952Gln) rs771282076
NM_001378454.1(ALMS1):c.11863T>C (p.Ser3955Pro)
NM_001378454.1(ALMS1):c.11867A>C (p.His3956Pro)
NM_001378454.1(ALMS1):c.1187A>T (p.Gln396Leu)
NM_001378454.1(ALMS1):c.1199A>G (p.Gln400Arg) rs372747251
NM_001378454.1(ALMS1):c.1202A>G (p.Glu401Gly)
NM_001378454.1(ALMS1):c.1211C>G (p.Ser404Cys)
NM_001378454.1(ALMS1):c.1219G>A (p.Ala407Thr) rs2103716227
NM_001378454.1(ALMS1):c.121G>A (p.Val41Met)
NM_001378454.1(ALMS1):c.1226C>G (p.Thr409Arg)
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.12299-3T>C rs1553422034
NM_001378454.1(ALMS1):c.12305T>A (p.Leu4102Gln)
NM_001378454.1(ALMS1):c.12308_12310del (p.Ala4103_Ile4104delinsVal) rs1553422036
NM_001378454.1(ALMS1):c.12314A>C (p.Gln4105Pro)
NM_001378454.1(ALMS1):c.12316A>G (p.Lys4106Glu)
NM_001378454.1(ALMS1):c.12322A>G (p.Lys4108Glu)
NM_001378454.1(ALMS1):c.12328A>G (p.Ile4110Val)
NM_001378454.1(ALMS1):c.12342A>C (p.Glu4114Asp)
NM_001378454.1(ALMS1):c.12346A>T (p.Ile4116Phe)
NM_001378454.1(ALMS1):c.1234A>G (p.Thr412Ala)
NM_001378454.1(ALMS1):c.12359A>G (p.Lys4120Arg)
NM_001378454.1(ALMS1):c.12360A>T (p.Lys4120Asn) rs2104203046
NM_001378454.1(ALMS1):c.12361C>T (p.Arg4121Trp)
NM_001378454.1(ALMS1):c.12362+3A>G
NM_001378454.1(ALMS1):c.12363-5C>G rs774448248
NM_001378454.1(ALMS1):c.12363-6T>G rs1553422641
NM_001378454.1(ALMS1):c.1236C>T (p.Thr412=)
NM_001378454.1(ALMS1):c.1237+10C>G rs1291450244
NM_001378454.1(ALMS1):c.1237+4A>G rs747868844
NM_001378454.1(ALMS1):c.1238-11C>G rs1553400951
NM_001378454.1(ALMS1):c.1238-11C>T rs1553400951
NM_001378454.1(ALMS1):c.1238-12C>T
NM_001378454.1(ALMS1):c.1238-13T>A
NM_001378454.1(ALMS1):c.12382G>A (p.Glu4128Lys)
NM_001378454.1(ALMS1):c.12389A>T (p.Gln4130Leu) rs371587051
NM_001378454.1(ALMS1):c.12394A>C (p.Lys4132Gln)
NM_001378454.1(ALMS1):c.12394_12397del (p.Lys4132fs) rs776401197
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.12399AGA[2] (p.Glu4136del) rs764575993
NM_001378454.1(ALMS1):c.123_124delinsCA (p.Val42Ile) rs1670514979
NM_001378454.1(ALMS1):c.12400G>A (p.Glu4134Lys)
NM_001378454.1(ALMS1):c.12411_12415del (p.Arg4138fs) rs2104216255
NM_001378454.1(ALMS1):c.12416A>C (p.Lys4139Thr)
NM_001378454.1(ALMS1):c.12417A>T (p.Lys4139Asn)
NM_001378454.1(ALMS1):c.12424T>C (p.Tyr4142His) rs954710649
NM_001378454.1(ALMS1):c.12425A>T (p.Tyr4142Phe) rs775032572
NM_001378454.1(ALMS1):c.12437G>A (p.Arg4146Gln)
NM_001378454.1(ALMS1):c.12443G>A (p.Arg4148Gln)
NM_001378454.1(ALMS1):c.1244T>C (p.Leu415Pro)
NM_001378454.1(ALMS1):c.12455A>T (p.Tyr4152Phe)
NM_001378454.1(ALMS1):c.1245G>C (p.Leu415=)
NM_001378454.1(ALMS1):c.12460_12461del (p.Lys4154fs)
NM_001378454.1(ALMS1):c.12461del (p.Lys4154fs) rs1553422659
NM_001378454.1(ALMS1):c.12462+1G>T
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.12462+6T>C rs2104216517
NM_001378454.1(ALMS1):c.12463-10T>C rs754172101
NM_001378454.1(ALMS1):c.12463-11_12463-7del rs1553422758
NM_001378454.1(ALMS1):c.12463-1G>C
NM_001378454.1(ALMS1):c.12463-9C>G rs1553422761
NM_001378454.1(ALMS1):c.12466G>A (p.Val4156Met)
NM_001378454.1(ALMS1):c.1247A>G (p.Gln416Arg) rs777072028
NM_001378454.1(ALMS1):c.1249G>A (p.Gly417Arg)
NM_001378454.1(ALMS1):c.12502G>A (p.Asp4168Asn)
NM_001378454.1(ALMS1):c.12507A>G (p.Ter4169Trp)
NM_001378454.1(ALMS1):c.1254G>A (p.Lys418=)
NM_001378454.1(ALMS1):c.1254G>T (p.Lys418Asn)
NM_001378454.1(ALMS1):c.1255G>T (p.Val419Phe) rs1671381064
NM_001378454.1(ALMS1):c.1256T>G (p.Val419Gly)
NM_001378454.1(ALMS1):c.1259A>C (p.Glu420Ala)
NM_001378454.1(ALMS1):c.125T>A (p.Val42Asp) rs1337322908
NM_001378454.1(ALMS1):c.1264G>A (p.Asp422Asn) rs886056297
NM_001378454.1(ALMS1):c.1266C>A (p.Asp422Glu) rs1396189205
NM_001378454.1(ALMS1):c.1267G>C (p.Val423Leu) rs45630557
NM_001378454.1(ALMS1):c.1297G>T (p.Ala433Ser) rs751744947
NM_001378454.1(ALMS1):c.1313A>C (p.Glu438Ala) rs753799992
NM_001378454.1(ALMS1):c.1326A>G (p.Glu442=) rs886056298
NM_001378454.1(ALMS1):c.1336A>C (p.Lys446Gln)
NM_001378454.1(ALMS1):c.1338+3G>A
NM_001378454.1(ALMS1):c.1339-16A>T
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.133G>A (p.Glu45Lys)
NM_001378454.1(ALMS1):c.1340C>G (p.Pro447Arg) rs886056299
NM_001378454.1(ALMS1):c.1343C>G (p.Thr448Arg) rs774335945
NM_001378454.1(ALMS1):c.1343C>T (p.Thr448Ile)
NM_001378454.1(ALMS1):c.1352C>T (p.Ser451Leu)
NM_001378454.1(ALMS1):c.135G>T (p.Glu45Asp)
NM_001378454.1(ALMS1):c.135_143del (p.43VEE[1])
NM_001378454.1(ALMS1):c.135_143dup (p.Glu48_Glu49insValGluGlu)
NM_001378454.1(ALMS1):c.1360C>T (p.His454Tyr)
NM_001378454.1(ALMS1):c.1364C>G (p.Ser455Cys)
NM_001378454.1(ALMS1):c.1369G>T (p.Asp457Tyr) rs1671513924
NM_001378454.1(ALMS1):c.137T>C (p.Val46Ala)
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.1386G>T (p.Arg462Ser) rs749794703
NM_001378454.1(ALMS1):c.1393C>T (p.Pro465Ser)
NM_001378454.1(ALMS1):c.141G>A (p.Glu47=)
NM_001378454.1(ALMS1):c.1426_1431del (p.Lys476_Ala477del) rs1553401631
NM_001378454.1(ALMS1):c.142G>C (p.Glu48Gln)
NM_001378454.1(ALMS1):c.1431A>G (p.Ala477=)
NM_001378454.1(ALMS1):c.1433-14C>A rs1553403232
NM_001378454.1(ALMS1):c.1436A>G (p.Asp479Gly) rs1671839144
NM_001378454.1(ALMS1):c.1448G>C (p.Gly483Ala)
NM_001378454.1(ALMS1):c.144A>G (p.Glu48=) rs1670515874
NM_001378454.1(ALMS1):c.1451G>C (p.Gly484Ala)
NM_001378454.1(ALMS1):c.1451G>T (p.Gly484Val)
NM_001378454.1(ALMS1):c.1461A>C (p.Lys487Asn) rs1671840179
NM_001378454.1(ALMS1):c.148_149delinsAA (p.Ala50Lys) rs2104058681
NM_001378454.1(ALMS1):c.1495A>G (p.Thr499Ala) rs2103771259
NM_001378454.1(ALMS1):c.1499_1500insGGG (p.Thr500_Pro501insGly)
NM_001378454.1(ALMS1):c.1520G>C (p.Gly507Ala) rs1553403257
NM_001378454.1(ALMS1):c.1521A>G (p.Gly507=)
NM_001378454.1(ALMS1):c.1540C>T (p.Leu514Phe) rs2103771365
NM_001378454.1(ALMS1):c.1552T>C (p.Ser518Pro)
NM_001378454.1(ALMS1):c.1556A>G (p.Gln519Arg) rs2103771395
NM_001378454.1(ALMS1):c.1559T>G (p.Leu520Trp)
NM_001378454.1(ALMS1):c.1562C>G (p.Ala521Gly)
NM_001378454.1(ALMS1):c.1564G>A (p.Val522Ile)
NM_001378454.1(ALMS1):c.1568G>A (p.Ser523Asn)
NM_001378454.1(ALMS1):c.157G>A (p.Glu53Lys) rs2104058756
NM_001378454.1(ALMS1):c.1589C>G (p.Thr530Ser)
NM_001378454.1(ALMS1):c.1591G>A (p.Gly531Ser)
NM_001378454.1(ALMS1):c.160T>G (p.Leu54Val) rs745737550
NM_001378454.1(ALMS1):c.161T>C (p.Leu54Ser) rs755760721
NM_001378454.1(ALMS1):c.1630G>A (p.Asp544Asn) rs1267086121
NM_001378454.1(ALMS1):c.163G>A (p.Asp55Asn)
NM_001378454.1(ALMS1):c.1667C>G (p.Ala556Gly) rs2103771804
NM_001378454.1(ALMS1):c.167C>G (p.Ser56Cys) rs2104058882
NM_001378454.1(ALMS1):c.1681G>A (p.Ala561Thr) rs776104521
NM_001378454.1(ALMS1):c.1682C>G (p.Ala561Gly)
NM_001378454.1(ALMS1):c.1699A>G (p.Thr567Ala)
NM_001378454.1(ALMS1):c.1700C>G (p.Thr567Arg) rs752312999
NM_001378454.1(ALMS1):c.1704A>C (p.Pro568=) rs886056300
NM_001378454.1(ALMS1):c.1705A>G (p.Thr569Ala) rs1671846580
NM_001378454.1(ALMS1):c.1707A>T (p.Thr569=)
NM_001378454.1(ALMS1):c.171C>G (p.Asp57Glu) rs2104058944
NM_001378454.1(ALMS1):c.1721C>T (p.Ser574Phe)
NM_001378454.1(ALMS1):c.1724_1725delinsCTAGT (p.His575delinsProSer) rs1064795650
NM_001378454.1(ALMS1):c.1729C>T (p.His577Tyr) rs1671847160
NM_001378454.1(ALMS1):c.1736G>T (p.Gly579Val) rs2103772041
NM_001378454.1(ALMS1):c.1737G>T (p.Gly579=)
NM_001378454.1(ALMS1):c.1744A>C (p.Ser582Arg)
NM_001378454.1(ALMS1):c.1754A>C (p.Tyr585Ser)
NM_001378454.1(ALMS1):c.1761G>C (p.Gln587His) rs1553403313
NM_001378454.1(ALMS1):c.1762G>A (p.Gly588Ser)
NM_001378454.1(ALMS1):c.1772A>G (p.Asp591Gly)
NM_001378454.1(ALMS1):c.1778A>G (p.His593Arg) rs2103772175
NM_001378454.1(ALMS1):c.1792G>A (p.Ala598Thr) rs776537010
NM_001378454.1(ALMS1):c.1807G>A (p.Ala603Thr) rs745501026
NM_001378454.1(ALMS1):c.1807G>T (p.Ala603Ser)
NM_001378454.1(ALMS1):c.1813C>T (p.Pro605Ser) rs1671849058
NM_001378454.1(ALMS1):c.1816G>A (p.Gly606Arg) rs1553403321
NM_001378454.1(ALMS1):c.1828C>G (p.Gln610Glu)
NM_001378454.1(ALMS1):c.1832C>G (p.Thr611Arg) rs1382642304
NM_001378454.1(ALMS1):c.1837_1838delinsAA (p.Gly613Asn) rs2103772404
NM_001378454.1(ALMS1):c.1847C>T (p.Thr616Ile) rs2103772456
NM_001378454.1(ALMS1):c.184C>T (p.Pro62Ser)
NM_001378454.1(ALMS1):c.1852A>G (p.Thr618Ala)
NM_001378454.1(ALMS1):c.1854_1856dup (p.Ser619_Thr620insSer)
NM_001378454.1(ALMS1):c.1859C>G (p.Thr620Ser) rs1447523847
NM_001378454.1(ALMS1):c.1862C>T (p.Ser621Phe)
NM_001378454.1(ALMS1):c.1899A>T (p.Gln633His)
NM_001378454.1(ALMS1):c.1901A>G (p.Gln634Arg)
NM_001378454.1(ALMS1):c.1905G>C (p.Glu635Asp)
NM_001378454.1(ALMS1):c.1906T>C (p.Leu636=) rs2103772724
NM_001378454.1(ALMS1):c.1909C>A (p.Pro637Thr)
NM_001378454.1(ALMS1):c.1909C>T (p.Pro637Ser) rs2103772730
NM_001378454.1(ALMS1):c.1912G>A (p.Glu638Lys)
NM_001378454.1(ALMS1):c.1933C>G (p.Pro645Ala) rs146234123
NM_001378454.1(ALMS1):c.1941A>C (p.Glu647Asp) rs768031771
NM_001378454.1(ALMS1):c.1950T>C (p.Ala650=)
NM_001378454.1(ALMS1):c.1955C>G (p.Pro652Arg)
NM_001378454.1(ALMS1):c.1961C>T (p.Pro654Leu) rs2103772890
NM_001378454.1(ALMS1):c.1965G>A (p.Val655=) rs1553403345
NM_001378454.1(ALMS1):c.1966G>A (p.Glu656Lys)
NM_001378454.1(ALMS1):c.196G>A (p.Glu66Lys)
NM_001378454.1(ALMS1):c.1990G>T (p.Val664Leu) rs754619355
NM_001378454.1(ALMS1):c.1999A>G (p.Thr667Ala) rs28730850
NM_001378454.1(ALMS1):c.199A>C (p.Ser67Arg) rs1670519049
NM_001378454.1(ALMS1):c.1A>C (p.Met1Leu)
NM_001378454.1(ALMS1):c.1A>G (p.Met1Val) rs1429891881
NM_001378454.1(ALMS1):c.2005C>A (p.His669Asn)
NM_001378454.1(ALMS1):c.2008T>A (p.Ser670Thr)
NM_001378454.1(ALMS1):c.2012A>G (p.His671Arg) rs1558647685
NM_001378454.1(ALMS1):c.2021A>G (p.Asp674Gly)
NM_001378454.1(ALMS1):c.2026C>G (p.Leu676Val)
NM_001378454.1(ALMS1):c.2029T>G (p.Phe677Val)
NM_001378454.1(ALMS1):c.203T>C (p.Ile68Thr) rs765378599
NM_001378454.1(ALMS1):c.204_212del (p.Ile68_Glu71delinsMet) rs1553396244
NM_001378454.1(ALMS1):c.2057G>A (p.Gly686Asp)
NM_001378454.1(ALMS1):c.2065A>C (p.Thr689Pro)
NM_001378454.1(ALMS1):c.2071C>A (p.Gln691Lys) rs752875933
NM_001378454.1(ALMS1):c.2074G>T (p.Ala692Ser) rs1309166073
NM_001378454.1(ALMS1):c.2083G>A (p.Val695Ile)
NM_001378454.1(ALMS1):c.208G>A (p.Asp70Asn) rs2104059373
NM_001378454.1(ALMS1):c.2093_2107del (p.Val698_Ala702del) rs1671856599
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.2116A>G (p.Thr706Ala) rs886056301
NM_001378454.1(ALMS1):c.2117C>T (p.Thr706Ile)
NM_001378454.1(ALMS1):c.2119G>A (p.Gly707Arg) rs1671857463
NM_001378454.1(ALMS1):c.211G>C (p.Glu71Gln) rs757131983
NM_001378454.1(ALMS1):c.2120G>A (p.Gly707Glu) rs1427149217
NM_001378454.1(ALMS1):c.2121G>T (p.Gly707=) rs878854997
NM_001378454.1(ALMS1):c.2126C>T (p.Ala709Val) rs2103773702
NM_001378454.1(ALMS1):c.2129C>G (p.Thr710Arg)
NM_001378454.1(ALMS1):c.2130A>T (p.Thr710=)
NM_001378454.1(ALMS1):c.2131G>A (p.Val711Ile) rs747790543
NM_001378454.1(ALMS1):c.2136C>G (p.Leu712=)
NM_001378454.1(ALMS1):c.2137T>C (p.Ser713Pro) rs1248095655
NM_001378454.1(ALMS1):c.2138C>T (p.Ser713Phe)
NM_001378454.1(ALMS1):c.2144C>G (p.Pro715Arg)
NM_001378454.1(ALMS1):c.2147A>G (p.His716Arg)
NM_001378454.1(ALMS1):c.2153A>T (p.His718Leu) rs1182404684
NM_001378454.1(ALMS1):c.2170A>G (p.Ile724Val) rs1671859518
NM_001378454.1(ALMS1):c.2177A>C (p.Tyr726Ser)
NM_001378454.1(ALMS1):c.2179CAA[1] (p.Gln728del) rs1553403420
NM_001378454.1(ALMS1):c.218A>C (p.Asp73Ala)
NM_001378454.1(ALMS1):c.2199T>A (p.Ser733Arg) rs1671860790
NM_001378454.1(ALMS1):c.2203C>G (p.Gln735Glu)
NM_001378454.1(ALMS1):c.2207_2299del (p.Thr736_Gln766del) rs1671861000
NM_001378454.1(ALMS1):c.220_228dup (p.Glu74_Ala76dup) rs762635802
NM_001378454.1(ALMS1):c.2215A>T (p.Thr739Ser) rs2103774232
NM_001378454.1(ALMS1):c.2218C>G (p.Leu740Val)
NM_001378454.1(ALMS1):c.2218C>T (p.Leu740Phe)
NM_001378454.1(ALMS1):c.2221_2222insTAA (p.Leu740_Thr741insIle)
NM_001378454.1(ALMS1):c.2222C>T (p.Thr741Ile) rs758047046
NM_001378454.1(ALMS1):c.2223T>A (p.Thr741=)
NM_001378454.1(ALMS1):c.2226A>G (p.Lys742=)
NM_001378454.1(ALMS1):c.2227G>C (p.Val743Leu) rs1046271130
NM_001378454.1(ALMS1):c.2230T>G (p.Ser744Ala) rs2103774349
NM_001378454.1(ALMS1):c.2237C>T (p.Thr746Ile)
NM_001378454.1(ALMS1):c.2243G>T (p.Gly748Val)
NM_001378454.1(ALMS1):c.2248G>T (p.Ala750Ser)
NM_001378454.1(ALMS1):c.2249C>T (p.Ala750Val) rs2103774445
NM_001378454.1(ALMS1):c.2251G>A (p.Asp751Asn)
NM_001378454.1(ALMS1):c.2260A>T (p.Thr754Ser) rs781628262
NM_001378454.1(ALMS1):c.2279A>G (p.Gln760Arg) rs1572932391
NM_001378454.1(ALMS1):c.2281T>G (p.Ser761Ala)
NM_001378454.1(ALMS1):c.2284A>G (p.Ser762Gly)
NM_001378454.1(ALMS1):c.2291A>G (p.Tyr764Cys)
NM_001378454.1(ALMS1):c.2293_3150del (p.Ser765_Tyr1050del) rs2103774407
NM_001378454.1(ALMS1):c.2306A>G (p.Lys769Arg)
NM_001378454.1(ALMS1):c.2312G>A (p.Ser771Asn) rs2103774719
NM_001378454.1(ALMS1):c.2339A>T (p.Asp780Val) rs756716132
NM_001378454.1(ALMS1):c.2350C>A (p.Pro784Thr)
NM_001378454.1(ALMS1):c.2358G>T (p.Glu786Asp) rs2103774906
NM_001378454.1(ALMS1):c.2359G>A (p.Gly787Ser)
NM_001378454.1(ALMS1):c.2366A>C (p.Lys789Thr)
NM_001378454.1(ALMS1):c.2374G>C (p.Ala792Pro) rs1181372708
NM_001378454.1(ALMS1):c.2410C>G (p.Pro804Ala) rs1391556218
NM_001378454.1(ALMS1):c.2411C>A (p.Pro804Gln) rs2103775015
NM_001378454.1(ALMS1):c.2414C>G (p.Thr805Arg) rs1671867434
NM_001378454.1(ALMS1):c.241C>G (p.Gln81Glu) rs778264668
NM_001378454.1(ALMS1):c.2423C>T (p.Ser808Phe) rs1389525541
NM_001378454.1(ALMS1):c.2431T>C (p.Tyr811His)
NM_001378454.1(ALMS1):c.2434T>C (p.Ser812Pro)
NM_001378454.1(ALMS1):c.2443G>A (p.Glu815Lys) rs370978261
NM_001378454.1(ALMS1):c.2471C>A (p.Ala824Asp) rs754424459
NM_001378454.1(ALMS1):c.2476C>A (p.Leu826Met) rs2103775303
NM_001378454.1(ALMS1):c.2478_2479delinsCT (p.Asp827Tyr)
NM_001378454.1(ALMS1):c.2498A>G (p.Glu833Gly)
NM_001378454.1(ALMS1):c.249C>A (p.His83Gln)
NM_001378454.1(ALMS1):c.2500G>T (p.Ala834Ser)
NM_001378454.1(ALMS1):c.2503C>G (p.Leu835Val) rs2103775468
NM_001378454.1(ALMS1):c.251C>T (p.Pro84Leu)
NM_001378454.1(ALMS1):c.253G>A (p.Gly85Ser)
NM_001378454.1(ALMS1):c.2544T>G (p.Thr848=)
NM_001378454.1(ALMS1):c.2546G>A (p.Gly849Glu)
NM_001378454.1(ALMS1):c.2548A>G (p.Thr850Ala) rs1304119807
NM_001378454.1(ALMS1):c.254G>A (p.Gly85Asp) rs1574424065
NM_001378454.1(ALMS1):c.2554G>A (p.Ala852Thr)
NM_001378454.1(ALMS1):c.2555C>T (p.Ala852Val)
NM_001378454.1(ALMS1):c.2561C>G (p.Thr854Ser)
NM_001378454.1(ALMS1):c.2566A>G (p.Thr856Ala)
NM_001378454.1(ALMS1):c.256A>G (p.Arg86Gly)
NM_001378454.1(ALMS1):c.2570C>A (p.Ser857Tyr)
NM_001378454.1(ALMS1):c.2575G>C (p.Ala859Pro) rs2103775737
NM_001378454.1(ALMS1):c.2596A>G (p.Lys866Glu) rs2103775820
NM_001378454.1(ALMS1):c.2615A>G (p.Gln872Arg) rs2103775891
NM_001378454.1(ALMS1):c.263T>C (p.Leu88Ser) rs2104059929
NM_001378454.1(ALMS1):c.2645A>G (p.Glu882Gly)
NM_001378454.1(ALMS1):c.2651C>T (p.Ala884Val)
NM_001378454.1(ALMS1):c.265C>T (p.Pro89Ser) rs956834448
NM_001378454.1(ALMS1):c.2664A>C (p.Ser888=)
NM_001378454.1(ALMS1):c.2665A>T (p.Ile889Phe)
NM_001378454.1(ALMS1):c.2678C>T (p.Pro893Leu) rs1671874349
NM_001378454.1(ALMS1):c.2680G>T (p.Gly894Cys) rs374262388
NM_001378454.1(ALMS1):c.2683_2685del (p.Asp895del) rs763288832
NM_001378454.1(ALMS1):c.2684A>G (p.Asp895Gly)
NM_001378454.1(ALMS1):c.2687A>T (p.Gln896Leu) rs1671874811
NM_001378454.1(ALMS1):c.268C>T (p.Pro90Ser)
NM_001378454.1(ALMS1):c.2695G>A (p.Gly899Arg) rs1671874954
NM_001378454.1(ALMS1):c.269C>T (p.Pro90Leu)
NM_001378454.1(ALMS1):c.2700A>G (p.Ile900Met)
NM_001378454.1(ALMS1):c.2702C>T (p.Pro901Leu) rs2103776209
NM_001378454.1(ALMS1):c.2721C>A (p.Phe907Leu) rs2103776271
NM_001378454.1(ALMS1):c.2724C>T (p.Tyr908=) rs573325092
NM_001378454.1(ALMS1):c.2726C>T (p.Ser909Leu) rs746640196
NM_001378454.1(ALMS1):c.272T>A (p.Leu91Gln)
NM_001378454.1(ALMS1):c.2737A>G (p.Lys913Glu) rs2103776357
NM_001378454.1(ALMS1):c.2745T>G (p.Ile915Met) rs2103776397
NM_001378454.1(ALMS1):c.2746A>G (p.Ile916Val) rs1355707191
NM_001378454.1(ALMS1):c.2751T>A (p.Phe917Leu)
NM_001378454.1(ALMS1):c.2761A>G (p.Thr921Ala)
NM_001378454.1(ALMS1):c.2768C>G (p.Pro923Arg)
NM_001378454.1(ALMS1):c.2770G>C (p.Asp924His)
NM_001378454.1(ALMS1):c.277C>T (p.Pro93Ser)
NM_001378454.1(ALMS1):c.2780T>A (p.Phe927Tyr)
NM_001378454.1(ALMS1):c.2800G>T (p.Val934Phe)
NM_001378454.1(ALMS1):c.2809G>C (p.Val937Leu) rs756153603
NM_001378454.1(ALMS1):c.280C>G (p.Pro94Ala) rs775431837
NM_001378454.1(ALMS1):c.281C>G (p.Pro94Arg)
NM_001378454.1(ALMS1):c.281C>T (p.Pro94Leu)
NM_001378454.1(ALMS1):c.2820G>A (p.Leu940=)
NM_001378454.1(ALMS1):c.283C>A (p.Gln95Lys)
NM_001378454.1(ALMS1):c.2848G>A (p.Val950Met) rs370733145
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.284A>G (p.Gln95Arg)
NM_001378454.1(ALMS1):c.2863C>T (p.His955Tyr)
NM_001378454.1(ALMS1):c.2866T>C (p.Ser956Pro)
NM_001378454.1(ALMS1):c.2867C>T (p.Ser956Leu)
NM_001378454.1(ALMS1):c.2873G>A (p.Ser958Asn)
NM_001378454.1(ALMS1):c.2875G>A (p.Glu959Lys)
NM_001378454.1(ALMS1):c.2882C>G (p.Ser961Cys) rs2103776868
NM_001378454.1(ALMS1):c.2884A>G (p.Ser962Gly)
NM_001378454.1(ALMS1):c.2890T>G (p.Phe964Val) rs2103776905
NM_001378454.1(ALMS1):c.2894A>G (p.Tyr965Cys) rs1671879952
NM_001378454.1(ALMS1):c.2896C>G (p.Gln966Glu) rs761177629
NM_001378454.1(ALMS1):c.2898G>T (p.Gln966His) rs2103776938
NM_001378454.1(ALMS1):c.2907G>T (p.Leu969Phe)
NM_001378454.1(ALMS1):c.2914A>T (p.Ser972Cys)
NM_001378454.1(ALMS1):c.2930A>T (p.Glu977Val)
NM_001378454.1(ALMS1):c.2943G>C (p.Met981Ile) rs757088179
NM_001378454.1(ALMS1):c.2950A>G (p.Ile984Val)
NM_001378454.1(ALMS1):c.2954C>T (p.Pro985Leu)
NM_001378454.1(ALMS1):c.2966A>G (p.Asp989Gly)
NM_001378454.1(ALMS1):c.2969A>G (p.Gln990Arg)
NM_001378454.1(ALMS1):c.2974A>C (p.Thr992Pro) rs2103777146
NM_001378454.1(ALMS1):c.2981C>G (p.Pro994Arg)
NM_001378454.1(ALMS1):c.2983A>G (p.Thr995Ala) rs776162820
NM_001378454.1(ALMS1):c.2989A>G (p.Thr997Ala)
NM_001378454.1(ALMS1):c.3002G>A (p.Gly1001Asp) rs773630367
NM_001378454.1(ALMS1):c.3013C>T (p.His1005Tyr) rs1039388814
NM_001378454.1(ALMS1):c.301G>A (p.Gly101Ser)
NM_001378454.1(ALMS1):c.3027C>T (p.Pro1009=)
NM_001378454.1(ALMS1):c.302G>A (p.Gly101Asp)
NM_001378454.1(ALMS1):c.303C>T (p.Gly101=)
NM_001378454.1(ALMS1):c.3049T>A (p.Trp1017Arg)
NM_001378454.1(ALMS1):c.3067A>G (p.Thr1023Ala) rs1553403605
NM_001378454.1(ALMS1):c.306G>T (p.Glu102Asp) rs2104060344
NM_001378454.1(ALMS1):c.3072A>C (p.Glu1024Asp) rs1671884089
NM_001378454.1(ALMS1):c.3091A>C (p.Thr1031Pro) rs72811915
NM_001378454.1(ALMS1):c.3091_3231del (p.Thr1031_Ser1077del)
NM_001378454.1(ALMS1):c.30C>T (p.Gly10=) rs1402244580
NM_001378454.1(ALMS1):c.3117G>T (p.Lys1039Asn) rs748646844
NM_001378454.1(ALMS1):c.3127C>A (p.Pro1043Thr) rs376987487
NM_001378454.1(ALMS1):c.3127C>T (p.Pro1043Ser) rs376987487
NM_001378454.1(ALMS1):c.3142A>G (p.Ser1048Gly) rs2103777784
NM_001378454.1(ALMS1):c.3143G>T (p.Ser1048Ile)
NM_001378454.1(ALMS1):c.3145T>A (p.Ser1049Thr)
NM_001378454.1(ALMS1):c.314C>A (p.Ser105Tyr) rs1328427718
NM_001378454.1(ALMS1):c.3166C>T (p.Pro1056Ser)
NM_001378454.1(ALMS1):c.3169A>G (p.Ser1057Gly) rs750417761
NM_001378454.1(ALMS1):c.3169A>T (p.Ser1057Cys)
NM_001378454.1(ALMS1):c.3181C>T (p.Pro1061Ser) rs754651123
NM_001378454.1(ALMS1):c.319G>C (p.Glu107Gln)
NM_001378454.1(ALMS1):c.3202C>A (p.His1068Asn)
NM_001378454.1(ALMS1):c.3232G>C (p.Ala1078Pro) rs1249823614
NM_001378454.1(ALMS1):c.3233C>T (p.Ala1078Val)
NM_001378454.1(ALMS1):c.3236T>G (p.Phe1079Cys)
NM_001378454.1(ALMS1):c.3238C>T (p.Pro1080Ser)
NM_001378454.1(ALMS1):c.3239C>T (p.Pro1080Leu) rs1671888366
NM_001378454.1(ALMS1):c.324+4A>G rs1553396304
NM_001378454.1(ALMS1):c.324+5G>T
NM_001378454.1(ALMS1):c.324G>C (p.Lys108Asn)
NM_001378454.1(ALMS1):c.325-15_325-13del rs1553398832
NM_001378454.1(ALMS1):c.325-8A>C rs200740825
NM_001378454.1(ALMS1):c.3254A>T (p.Gln1085Leu)
NM_001378454.1(ALMS1):c.3255G>T (p.Gln1085His) rs181507134
NM_001378454.1(ALMS1):c.325A>G (p.Ile109Val)
NM_001378454.1(ALMS1):c.3260C>T (p.Thr1087Ile)
NM_001378454.1(ALMS1):c.3265A>G (p.Thr1089Ala)
NM_001378454.1(ALMS1):c.3266C>A (p.Thr1089Lys) rs556855697
NM_001378454.1(ALMS1):c.3266C>T (p.Thr1089Ile) rs556855697
NM_001378454.1(ALMS1):c.3268C>T (p.Pro1090Ser)
NM_001378454.1(ALMS1):c.3278C>A (p.Pro1093Gln)
NM_001378454.1(ALMS1):c.3284C>G (p.Thr1095Ser)
NM_001378454.1(ALMS1):c.328G>A (p.Val110Ile) rs2103675391
NM_001378454.1(ALMS1):c.3292T>C (p.Ser1098Pro) rs1553403651
NM_001378454.1(ALMS1):c.3300A>C (p.Arg1100Ser)
NM_001378454.1(ALMS1):c.3320A>G (p.Tyr1107Cys)
NM_001378454.1(ALMS1):c.3331T>A (p.Leu1111Met)
NM_001378454.1(ALMS1):c.3350C>G (p.Pro1117Arg)
NM_001378454.1(ALMS1):c.3362T>C (p.Leu1121Pro)
NM_001378454.1(ALMS1):c.3366A>C (p.Lys1122Asn) rs1254282900
NM_001378454.1(ALMS1):c.3386T>A (p.Leu1129Gln) rs2103778692
NM_001378454.1(ALMS1):c.3389C>G (p.Ala1130Gly)
NM_001378454.1(ALMS1):c.338C>T (p.Thr113Ile) rs1417754706
NM_001378454.1(ALMS1):c.3399G>T (p.Lys1133Asn)
NM_001378454.1(ALMS1):c.3401C>G (p.Thr1134Ser)
NM_001378454.1(ALMS1):c.3406A>G (p.Thr1136Ala) rs886056302
NM_001378454.1(ALMS1):c.3407C>G (p.Thr1136Arg)
NM_001378454.1(ALMS1):c.3409C>T (p.Pro1137Ser) rs2103778839
NM_001378454.1(ALMS1):c.3416T>C (p.Val1139Ala)
NM_001378454.1(ALMS1):c.3428C>T (p.Ser1143Phe)
NM_001378454.1(ALMS1):c.3436C>A (p.Gln1146Lys) rs2103778961
NM_001378454.1(ALMS1):c.3440A>T (p.His1147Leu)
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile) rs752342634
NM_001378454.1(ALMS1):c.3472G>C (p.Ala1158Pro) rs376302473
NM_001378454.1(ALMS1):c.3478C>T (p.Pro1160Ser) rs1164554577
NM_001378454.1(ALMS1):c.3488A>T (p.His1163Leu)
NM_001378454.1(ALMS1):c.3490A>G (p.Ile1164Val)
NM_001378454.1(ALMS1):c.3503C>T (p.Ala1168Val) rs2103779179
NM_001378454.1(ALMS1):c.3510A>C (p.Lys1170Asn) rs1671897603
NM_001378454.1(ALMS1):c.3523A>G (p.Thr1175Ala) rs1321889913
NM_001378454.1(ALMS1):c.3547T>C (p.Trp1183Arg) rs2103779356
NM_001378454.1(ALMS1):c.354A>G (p.Gln118=) rs531782624
NM_001378454.1(ALMS1):c.3550A>T (p.Ile1184Leu)
NM_001378454.1(ALMS1):c.3552A>G (p.Ile1184Met) rs2103779378
NM_001378454.1(ALMS1):c.3563T>G (p.Leu1188Arg)
NM_001378454.1(ALMS1):c.3566C>T (p.Ser1189Phe)
NM_001378454.1(ALMS1):c.3570C>T (p.Thr1190=)
NM_001378454.1(ALMS1):c.3574T>C (p.Tyr1192His) rs1553403697
NM_001378454.1(ALMS1):c.3574T>G (p.Tyr1192Asp) rs1553403697
NM_001378454.1(ALMS1):c.3575A>G (p.Tyr1192Cys)
NM_001378454.1(ALMS1):c.3596G>A (p.Gly1199Asp) rs1572934110
NM_001378454.1(ALMS1):c.3596G>C (p.Gly1199Ala)
NM_001378454.1(ALMS1):c.35_36insCGAGGAGGAGGAGGA (p.Glu28_Ala29insGluGluGluGluGlu)
NM_001378454.1(ALMS1):c.35_37dup (p.Leu12_Glu13insVal) rs1244345693
NM_001378454.1(ALMS1):c.360_361insTATCAAGTATATCAA (p.Ile120_Val121insTyrGlnValTyrGln) rs1553398843
NM_001378454.1(ALMS1):c.3610C>A (p.Gln1204Lys) rs2103779570
NM_001378454.1(ALMS1):c.3617T>C (p.Leu1206Ser)
NM_001378454.1(ALMS1):c.3631A>G (p.Ile1211Val)
NM_001378454.1(ALMS1):c.3635C>T (p.Pro1212Leu) rs747033635
NM_001378454.1(ALMS1):c.3644C>T (p.Ala1215Val)
NM_001378454.1(ALMS1):c.3664C>A (p.Leu1222Ile)
NM_001378454.1(ALMS1):c.3667G>A (p.Gly1223Arg)
NM_001378454.1(ALMS1):c.3676_3693del (p.Asp1226_Thr1231del) rs2103779760
NM_001378454.1(ALMS1):c.3694C>T (p.Pro1232Ser)
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[17] (p.Glu25_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[20] (p.Glu22_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[21] (p.Glu21_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.3701C>A (p.Pro1234Gln)
NM_001378454.1(ALMS1):c.3701C>T (p.Pro1234Leu)
NM_001378454.1(ALMS1):c.3703A>G (p.Thr1235Ala)
NM_001378454.1(ALMS1):c.3706T>A (p.Ser1236Thr)
NM_001378454.1(ALMS1):c.3706T>C (p.Ser1236Pro)
NM_001378454.1(ALMS1):c.3712T>G (p.Ser1238Ala)
NM_001378454.1(ALMS1):c.3725C>G (p.Thr1242Arg) rs1238618740
NM_001378454.1(ALMS1):c.3728A>G (p.Glu1243Gly)
NM_001378454.1(ALMS1):c.3730A>G (p.Lys1244Glu) rs757303904
NM_001378454.1(ALMS1):c.3734C>G (p.Pro1245Arg) rs1558648928
NM_001378454.1(ALMS1):c.3734C>T (p.Pro1245Leu) rs1558648928
NM_001378454.1(ALMS1):c.3752A>G (p.Gln1251Arg)
NM_001378454.1(ALMS1):c.3755T>G (p.Val1252Gly)
NM_001378454.1(ALMS1):c.375TAG[1] (p.Ser126del) rs760942576
NM_001378454.1(ALMS1):c.3769C>T (p.His1257Tyr)
NM_001378454.1(ALMS1):c.3799G>A (p.Val1267Ile) rs770278707
NM_001378454.1(ALMS1):c.3799G>C (p.Val1267Leu)
NM_001378454.1(ALMS1):c.3799G>T (p.Val1267Phe)
NM_001378454.1(ALMS1):c.379A>G (p.Arg127Gly)
NM_001378454.1(ALMS1):c.3809A>G (p.Glu1270Gly)
NM_001378454.1(ALMS1):c.3812C>T (p.Pro1271Leu) rs372563916
NM_001378454.1(ALMS1):c.3815_3817del (p.Val1272del) rs954466797
NM_001378454.1(ALMS1):c.3833C>T (p.Thr1278Ile) rs1292358818
NM_001378454.1(ALMS1):c.3835C>T (p.Pro1279Ser) rs1422410913
NM_001378454.1(ALMS1):c.3838G>A (p.Ala1280Thr) rs767729719
NM_001378454.1(ALMS1):c.3838G>C (p.Ala1280Pro) rs767729719
NM_001378454.1(ALMS1):c.3838_4122del (p.Ala1280_Pro1374del) rs2103780150
NM_001378454.1(ALMS1):c.3839C>G (p.Ala1280Gly)
NM_001378454.1(ALMS1):c.3850A>G (p.Thr1284Ala) rs1366506910
NM_001378454.1(ALMS1):c.3853T>G (p.Ser1285Ala)
NM_001378454.1(ALMS1):c.3857A>C (p.Tyr1286Ser) rs2103780445
NM_001378454.1(ALMS1):c.3859T>C (p.Ser1287Pro)
NM_001378454.1(ALMS1):c.3874A>G (p.Lys1292Glu) rs2103780517
NM_001378454.1(ALMS1):c.387A>C (p.Gln129His)
NM_001378454.1(ALMS1):c.3897G>T (p.Gln1299His) rs745335322
NM_001378454.1(ALMS1):c.3899C>T (p.Ser1300Leu) rs769219669
NM_001378454.1(ALMS1):c.38A>G (p.Glu13Gly) rs1574423651
NM_001378454.1(ALMS1):c.3907A>G (p.Ser1303Gly)
NM_001378454.1(ALMS1):c.3907AGT[1] (p.Ser1304del) rs775132874
NM_001378454.1(ALMS1):c.3915T>C (p.His1305=)
NM_001378454.1(ALMS1):c.3920C>T (p.Thr1307Ile)
NM_001378454.1(ALMS1):c.3922G>A (p.Glu1308Lys)
NM_001378454.1(ALMS1):c.3936_4220del (p.Ala1320_Pro1414del) rs2103780643
NM_001378454.1(ALMS1):c.3938T>C (p.Val1313Ala)
NM_001378454.1(ALMS1):c.3941C>T (p.Ser1314Leu) rs2103780749
NM_001378454.1(ALMS1):c.3961G>T (p.Asp1321Tyr) rs2103780841
NM_001378454.1(ALMS1):c.3963C>G (p.Asp1321Glu)
NM_001378454.1(ALMS1):c.3967A>G (p.Lys1323Glu)
NM_001378454.1(ALMS1):c.3970A>G (p.Thr1324Ala) rs1671910039
NM_001378454.1(ALMS1):c.3978A>G (p.Ile1326Met) rs2103780894
NM_001378454.1(ALMS1):c.3980C>T (p.Pro1327Leu) rs764135588
NM_001378454.1(ALMS1):c.398C>T (p.Thr133Ile) rs1348003970
NM_001378454.1(ALMS1):c.3992C>T (p.Ser1331Phe)
NM_001378454.1(ALMS1):c.3999C>G (p.Phe1333Leu)
NM_001378454.1(ALMS1):c.4002C>T (p.Tyr1334=)
NM_001378454.1(ALMS1):c.4007A>G (p.His1336Arg) rs2103780957
NM_001378454.1(ALMS1):c.4012G>C (p.Glu1338Gln)
NM_001378454.1(ALMS1):c.4022G>A (p.Gly1341Asp) rs1671911104
NM_001378454.1(ALMS1):c.4022G>C (p.Gly1341Ala)
NM_001378454.1(ALMS1):c.4024G>T (p.Val1342Phe)
NM_001378454.1(ALMS1):c.4025T>G (p.Val1342Gly) rs939609171
NM_001378454.1(ALMS1):c.4028T>C (p.Phe1343Ser)
NM_001378454.1(ALMS1):c.4036C>G (p.Gln1346Glu)
NM_001378454.1(ALMS1):c.4045C>T (p.Pro1349Ser) rs1553403796
NM_001378454.1(ALMS1):c.4051A>T (p.Ser1351Cys) rs779496090
NM_001378454.1(ALMS1):c.4052G>A (p.Ser1351Asn)
NM_001378454.1(ALMS1):c.4057C>T (p.Pro1353Ser) rs1005994594
NM_001378454.1(ALMS1):c.4060A>C (p.Thr1354Pro) rs1330377280
NM_001378454.1(ALMS1):c.4060A>G (p.Thr1354Ala) rs1330377280
NM_001378454.1(ALMS1):c.4082C>T (p.Ser1361Leu) rs2103781298
NM_001378454.1(ALMS1):c.4084G>T (p.Val1362Phe)
NM_001378454.1(ALMS1):c.4091C>T (p.Ser1364Phe)
NM_001378454.1(ALMS1):c.4103A>G (p.Asp1368Gly)
NM_001378454.1(ALMS1):c.410G>C (p.Cys137Ser)
NM_001378454.1(ALMS1):c.4110_4112dup (p.Thr1371dup) rs1448848361
NM_001378454.1(ALMS1):c.4115G>T (p.Gly1372Val)
NM_001378454.1(ALMS1):c.4118C>T (p.Thr1373Ile) rs1671914302
NM_001378454.1(ALMS1):c.4134_4418del (p.Thr1379_Ser1473del) rs2103781426
NM_001378454.1(ALMS1):c.4136C>T (p.Thr1379Ile)
NM_001378454.1(ALMS1):c.4150C>T (p.His1384Tyr) rs1228297685
NM_001378454.1(ALMS1):c.4151A>G (p.His1384Arg)
NM_001378454.1(ALMS1):c.4160A>C (p.Lys1387Thr) rs1264554750
NM_001378454.1(ALMS1):c.4165A>G (p.Ser1389Gly) rs866496302
NM_001378454.1(ALMS1):c.4170T>G (p.Ile1390Met) rs1671916265
NM_001378454.1(ALMS1):c.4172T>C (p.Phe1391Ser)
NM_001378454.1(ALMS1):c.4175A>G (p.Tyr1392Cys)
NM_001378454.1(ALMS1):c.4184C>T (p.Ser1395Leu)
NM_001378454.1(ALMS1):c.4213G>A (p.Ala1405Thr) rs1671917742
NM_001378454.1(ALMS1):c.4216A>G (p.Lys1406Glu)
NM_001378454.1(ALMS1):c.4223T>C (p.Val1408Ala) rs750124571
NM_001378454.1(ALMS1):c.4229C>T (p.Ala1410Val)
NM_001378454.1(ALMS1):c.422C>T (p.Thr141Ile)
NM_001378454.1(ALMS1):c.4231G>A (p.Val1411Ile) rs1553403843
NM_001378454.1(ALMS1):c.4235C>T (p.Pro1412Leu)
NM_001378454.1(ALMS1):c.4241C>G (p.Pro1414Arg)
NM_001378454.1(ALMS1):c.4243G>C (p.Gly1415Arg) rs2103781986
NM_001378454.1(ALMS1):c.4250G>A (p.Arg1417Gln) rs771362238
NM_001378454.1(ALMS1):c.425C>T (p.Ala142Val) rs2103675826
NM_001378454.1(ALMS1):c.4265C>T (p.Pro1422Leu)
NM_001378454.1(ALMS1):c.4268C>T (p.Thr1423Ile)
NM_001378454.1(ALMS1):c.4286A>C (p.Tyr1429Ser) rs763136053
NM_001378454.1(ALMS1):c.4288T>G (p.Ser1430Ala) rs1671920005
NM_001378454.1(ALMS1):c.4291C>A (p.His1431Asn)
NM_001378454.1(ALMS1):c.4306G>A (p.Gly1436Ser) rs759249886
NM_001378454.1(ALMS1):c.4310G>T (p.Ser1437Ile)
NM_001378454.1(ALMS1):c.4316A>G (p.Tyr1439Cys)
NM_001378454.1(ALMS1):c.4333C>T (p.His1445Tyr) rs746087402
NM_001378454.1(ALMS1):c.4338T>G (p.Ser1446Arg)
NM_001378454.1(ALMS1):c.4339C>T (p.His1447Tyr)
NM_001378454.1(ALMS1):c.4354G>A (p.Ala1452Thr)
NM_001378454.1(ALMS1):c.4363G>A (p.Val1455Ile) rs1445707777
NM_001378454.1(ALMS1):c.4369G>T (p.Val1457Phe) rs373453289
NM_001378454.1(ALMS1):c.4375C>G (p.Pro1459Ala)
NM_001378454.1(ALMS1):c.4381C>A (p.Pro1461Thr) rs2103782534
NM_001378454.1(ALMS1):c.4388_4528del (p.Asp1463_Val1509del)
NM_001378454.1(ALMS1):c.4391A>G (p.Gln1464Arg)
NM_001378454.1(ALMS1):c.4391A>T (p.Gln1464Leu)
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.4404A>G (p.Thr1468=)
NM_001378454.1(ALMS1):c.4415C>T (p.Thr1472Ile)
NM_001378454.1(ALMS1):c.4426A>G (p.Ser1476Gly)
NM_001378454.1(ALMS1):c.4427G>C (p.Ser1476Thr)
NM_001378454.1(ALMS1):c.4436G>A (p.Gly1479Glu)
NM_001378454.1(ALMS1):c.4436G>T (p.Gly1479Val)
NM_001378454.1(ALMS1):c.443A>T (p.Asp148Val)
NM_001378454.1(ALMS1):c.4446C>T (p.Pro1482=)
NM_001378454.1(ALMS1):c.4459A>G (p.Lys1487Glu)
NM_001378454.1(ALMS1):c.446A>G (p.Asp149Gly) rs1671019702
NM_001378454.1(ALMS1):c.4478G>C (p.Gly1493Ala) rs1347210507
NM_001378454.1(ALMS1):c.4498C>T (p.Leu1500=)
NM_001378454.1(ALMS1):c.451-12A>G rs1274254541
NM_001378454.1(ALMS1):c.4535C>G (p.Thr1512Arg)
NM_001378454.1(ALMS1):c.4542C>T (p.Gly1514=) rs763511170
NM_001378454.1(ALMS1):c.4546C>A (p.Pro1516Thr)
NM_001378454.1(ALMS1):c.4549A>G (p.Thr1517Ala) rs1572935497
NM_001378454.1(ALMS1):c.4552A>C (p.Ile1518Leu)
NM_001378454.1(ALMS1):c.4554A>G (p.Ile1518Met)
NM_001378454.1(ALMS1):c.4558T>G (p.Ser1520Ala)
NM_001378454.1(ALMS1):c.4565C>G (p.Ser1522Cys) rs1060500036
NM_001378454.1(ALMS1):c.4573_4716del (p.Gln1525_Ser1572del)
NM_001378454.1(ALMS1):c.4574A>C (p.Gln1525Pro)
NM_001378454.1(ALMS1):c.4577A>G (p.His1526Arg) rs1164930753
NM_001378454.1(ALMS1):c.4599C>A (p.Phe1533Leu)
NM_001378454.1(ALMS1):c.4601A>G (p.Tyr1534Cys) rs751003573
NM_001378454.1(ALMS1):c.4606C>G (p.Leu1536Val) rs2103783328
NM_001378454.1(ALMS1):c.4609G>A (p.Ala1537Thr) rs2103783338
NM_001378454.1(ALMS1):c.4624C>G (p.Gln1542Glu) rs1671928724
NM_001378454.1(ALMS1):c.4626A>C (p.Gln1542His) rs201603580
NM_001378454.1(ALMS1):c.4639G>A (p.Ala1547Thr)
NM_001378454.1(ALMS1):c.4642C>T (p.Leu1548Phe) rs2103783451
NM_001378454.1(ALMS1):c.4651T>G (p.Ser1551Ala)
NM_001378454.1(ALMS1):c.4667C>T (p.Pro1556Leu)
NM_001378454.1(ALMS1):c.4678A>G (p.Thr1560Ala) rs1558649606
NM_001378454.1(ALMS1):c.4684G>A (p.Gly1562Ser) rs1671930409
NM_001378454.1(ALMS1):c.46_47insCGG (p.Glu15_Glu16insAla) rs1558624515
NM_001378454.1(ALMS1):c.4700C>A (p.Thr1567Asn)
NM_001378454.1(ALMS1):c.4714T>G (p.Ser1572Ala) rs2103783756
NM_001378454.1(ALMS1):c.4717T>C (p.Phe1573Leu) rs2103783780
NM_001378454.1(ALMS1):c.4720G>A (p.Gly1574Arg)
NM_001378454.1(ALMS1):c.4721G>C (p.Gly1574Ala)
NM_001378454.1(ALMS1):c.472C>T (p.Leu158Phe)
NM_001378454.1(ALMS1):c.4730C>A (p.Pro1577Gln) rs148568833
NM_001378454.1(ALMS1):c.4730C>T (p.Pro1577Leu)
NM_001378454.1(ALMS1):c.4733T>C (p.Ile1578Thr) rs2103783837
NM_001378454.1(ALMS1):c.4742A>G (p.Tyr1581Cys)
NM_001378454.1(ALMS1):c.4749G>T (p.Gln1583His) rs749067384
NM_001378454.1(ALMS1):c.4751C>G (p.Ala1584Gly)
NM_001378454.1(ALMS1):c.4756C>T (p.Pro1586Ser) rs768373356
NM_001378454.1(ALMS1):c.4762G>A (p.Gly1588Ser)
NM_001378454.1(ALMS1):c.4763G>T (p.Gly1588Val)
NM_001378454.1(ALMS1):c.4764T>C (p.Gly1588=)
NM_001378454.1(ALMS1):c.4766A>G (p.His1589Arg)
NM_001378454.1(ALMS1):c.4768C>T (p.Leu1590=)
NM_001378454.1(ALMS1):c.4778A>G (p.Glu1593Gly)
NM_001378454.1(ALMS1):c.4792T>A (p.Ser1598Thr)
NM_001378454.1(ALMS1):c.4805G>A (p.Gly1602Glu)
NM_001378454.1(ALMS1):c.4824_4826del (p.Asp1609del) rs1057518311
NM_001378454.1(ALMS1):c.4828A>G (p.Ile1610Val)
NM_001378454.1(ALMS1):c.4831C>G (p.Pro1611Ala) rs935791709
NM_001378454.1(ALMS1):c.4835C>T (p.Ala1612Val)
NM_001378454.1(ALMS1):c.4843T>A (p.Leu1615Ile) rs375736124
NM_001378454.1(ALMS1):c.4843T>G (p.Leu1615Val) rs375736124
NM_001378454.1(ALMS1):c.4846G>A (p.Gly1616Ser)
NM_001378454.1(ALMS1):c.4847G>A (p.Gly1616Asp)
NM_001378454.1(ALMS1):c.4852A>G (p.Ser1618Gly) rs2103784176
NM_001378454.1(ALMS1):c.4864G>C (p.Glu1622Gln)
NM_001378454.1(ALMS1):c.486G>T (p.Met162Ile) rs1671237621
NM_001378454.1(ALMS1):c.4873A>G (p.Ile1625Val)
NM_001378454.1(ALMS1):c.4879T>A (p.Phe1627Ile)
NM_001378454.1(ALMS1):c.4916A>C (p.Lys1639Thr)
NM_001378454.1(ALMS1):c.4922T>A (p.Val1641Asp)
NM_001378454.1(ALMS1):c.4923_4925del (p.Val1642del)
NM_001378454.1(ALMS1):c.4936G>A (p.Ala1646Thr) rs1461831032
NM_001378454.1(ALMS1):c.4939G>T (p.Ala1647Ser) rs1671938334
NM_001378454.1(ALMS1):c.4940C>G (p.Ala1647Gly) rs2103784552
NM_001378454.1(ALMS1):c.4942C>T (p.Pro1648Ser)
NM_001378454.1(ALMS1):c.4947A>G (p.Gly1649=)
NM_001378454.1(ALMS1):c.4952C>T (p.Ala1651Val)
NM_001378454.1(ALMS1):c.496C>G (p.Gln166Glu) rs2103701341
NM_001378454.1(ALMS1):c.4982A>C (p.His1661Pro)
NM_001378454.1(ALMS1):c.4987A>C (p.Thr1663Pro)
NM_001378454.1(ALMS1):c.4999A>T (p.Asn1667Tyr)
NM_001378454.1(ALMS1):c.5001T>C (p.Asn1667=)
NM_001378454.1(ALMS1):c.5002A>G (p.Arg1668Gly) rs2103784813
NM_001378454.1(ALMS1):c.5004G>T (p.Arg1668Ser)
NM_001378454.1(ALMS1):c.5005G>A (p.Gly1669Arg)
NM_001378454.1(ALMS1):c.5027A>G (p.Gln1676Arg)
NM_001378454.1(ALMS1):c.5045G>C (p.Ser1682Thr)
NM_001378454.1(ALMS1):c.5054C>T (p.Pro1685Leu)
NM_001378454.1(ALMS1):c.5056G>A (p.Glu1686Lys)
NM_001378454.1(ALMS1):c.5057A>G (p.Glu1686Gly) rs947249342
NM_001378454.1(ALMS1):c.5075C>T (p.Pro1692Leu)
NM_001378454.1(ALMS1):c.5087G>A (p.Gly1696Glu)
NM_001378454.1(ALMS1):c.5090C>T (p.Pro1697Leu) rs2103785051
NM_001378454.1(ALMS1):c.5095G>A (p.Ala1699Thr) rs1553404004
NM_001378454.1(ALMS1):c.5095G>T (p.Ala1699Ser) rs1553404004
NM_001378454.1(ALMS1):c.50_51insAGAGGA (p.Glu27_Glu28dup) rs1491245339
NM_001378454.1(ALMS1):c.5111C>T (p.Thr1704Ile) rs755683870
NM_001378454.1(ALMS1):c.5114C>T (p.Pro1705Leu)
NM_001378454.1(ALMS1):c.5125T>G (p.Ser1709Ala)
NM_001378454.1(ALMS1):c.5129G>C (p.Ser1710Thr) rs1671942849
NM_001378454.1(ALMS1):c.5140T>G (p.Tyr1714Asp)
NM_001378454.1(ALMS1):c.5164T>C (p.Tyr1722His)
NM_001378454.1(ALMS1):c.5165A>T (p.Tyr1722Phe)
NM_001378454.1(ALMS1):c.5173G>A (p.Ala1725Thr) rs763052163
NM_001378454.1(ALMS1):c.517A>G (p.Thr173Ala)
NM_001378454.1(ALMS1):c.5180C>T (p.Pro1727Leu)
NM_001378454.1(ALMS1):c.5182G>A (p.Asp1728Asn)
NM_001378454.1(ALMS1):c.5186G>T (p.Ser1729Ile) rs2103785437
NM_001378454.1(ALMS1):c.5191C>G (p.Leu1731Val)
NM_001378454.1(ALMS1):c.5197C>G (p.Gln1733Glu)
NM_001378454.1(ALMS1):c.5198AAG[1] (p.Glu1734del) rs1553404031
NM_001378454.1(ALMS1):c.51_52insAAGGAG (p.Glu17_Glu18insLysGlu) rs1553396125
NM_001378454.1(ALMS1):c.5203G>C (p.Ala1735Pro)
NM_001378454.1(ALMS1):c.5209A>G (p.Lys1737Glu) rs2103785554
NM_001378454.1(ALMS1):c.5216C>T (p.Ser1739Leu)
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu) rs962844498
NM_001378454.1(ALMS1):c.5224C>G (p.Pro1742Ala)
NM_001378454.1(ALMS1):c.5243A>G (p.Lys1748Arg)
NM_001378454.1(ALMS1):c.5251_5391del (p.Leu1751_Gly1797del) rs2103785632
NM_001378454.1(ALMS1):c.5267C>T (p.Ser1756Phe)
NM_001378454.1(ALMS1):c.5273T>C (p.Phe1758Ser)
NM_001378454.1(ALMS1):c.5274C>A (p.Phe1758Leu) rs2103785773
NM_001378454.1(ALMS1):c.5284A>G (p.Thr1762Ala)
NM_001378454.1(ALMS1):c.528T>A (p.Asn176Lys)
NM_001378454.1(ALMS1):c.5294C>G (p.Pro1765Arg) rs1328622266
NM_001378454.1(ALMS1):c.5309A>G (p.Gln1770Arg) rs2103785989
NM_001378454.1(ALMS1):c.5310G>A (p.Gln1770=) rs778267451
NM_001378454.1(ALMS1):c.5314G>C (p.Glu1772Gln) rs2103786011
NM_001378454.1(ALMS1):c.5320C>T (p.Pro1774Ser) rs2103786033
NM_001378454.1(ALMS1):c.5327G>A (p.Ser1776Asn) rs182614909
NM_001378454.1(ALMS1):c.532A>G (p.Arg178Gly) rs2103701456
NM_001378454.1(ALMS1):c.5330A>G (p.His1777Arg)
NM_001378454.1(ALMS1):c.5345C>T (p.Ala1782Val)
NM_001378454.1(ALMS1):c.5350A>G (p.Lys1784Glu)
NM_001378454.1(ALMS1):c.5361T>A (p.Asn1787Lys)
NM_001378454.1(ALMS1):c.5365C>T (p.Pro1789Ser) rs1479555928
NM_001378454.1(ALMS1):c.5368G>A (p.Gly1790Arg) rs1060499580
NM_001378454.1(ALMS1):c.5369G>T (p.Gly1790Val)
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile) rs1131691296
NM_001378454.1(ALMS1):c.5381A>G (p.Gln1794Arg)
NM_001378454.1(ALMS1):c.5386A>G (p.Thr1796Ala)
NM_001378454.1(ALMS1):c.5390G>C (p.Gly1797Ala) rs1225146552
NM_001378454.1(ALMS1):c.5391_5525del (p.Val1798_Gly1842del)
NM_001378454.1(ALMS1):c.5401G>A (p.Val1801Ile)
NM_001378454.1(ALMS1):c.5402T>C (p.Val1801Ala)
NM_001378454.1(ALMS1):c.5413T>C (p.Ser1805Pro)
NM_001378454.1(ALMS1):c.5414C>T (p.Ser1805Phe) rs2103786414
NM_001378454.1(ALMS1):c.5417A>C (p.Tyr1806Ser)
NM_001378454.1(ALMS1):c.5417A>G (p.Tyr1806Cys) rs374046216
NM_001378454.1(ALMS1):c.5422C>T (p.His1808Tyr) rs1572936601
NM_001378454.1(ALMS1):c.542A>G (p.Asp181Gly)
NM_001378454.1(ALMS1):c.5440G>T (p.Val1814Phe)
NM_001378454.1(ALMS1):c.5441T>C (p.Val1814Ala) rs2103786511
NM_001378454.1(ALMS1):c.5450A>G (p.Gln1817Arg)
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.5454A>C (p.Arg1818=)
NM_001378454.1(ALMS1):c.5464C>T (p.His1822Tyr)
NM_001378454.1(ALMS1):c.5480G>C (p.Gly1827Ala)
NM_001378454.1(ALMS1):c.5486A>C (p.Lys1829Thr)
NM_001378454.1(ALMS1):c.5488A>G (p.Ile1830Val)
NM_001378454.1(ALMS1):c.5488A>T (p.Ile1830Phe)
NM_001378454.1(ALMS1):c.5510_5512del (p.Ala1837del) rs2103786773
NM_001378454.1(ALMS1):c.5511T>C (p.Ala1837=)
NM_001378454.1(ALMS1):c.5515C>G (p.Gln1839Glu) rs1252756270
NM_001378454.1(ALMS1):c.5533A>G (p.Ile1845Val)
NM_001378454.1(ALMS1):c.5539C>A (p.Pro1847Thr) rs752756030
NM_001378454.1(ALMS1):c.5539C>T (p.Pro1847Ser) rs752756030
NM_001378454.1(ALMS1):c.5559G>A (p.Gln1853=) rs886056303
NM_001378454.1(ALMS1):c.5566C>T (p.His1856Tyr)
NM_001378454.1(ALMS1):c.5570C>G (p.Ser1857Cys) rs375354717
NM_001378454.1(ALMS1):c.5582A>G (p.Tyr1861Cys) rs556743491
NM_001378454.1(ALMS1):c.55G>A (p.Glu19Lys) rs939208094
NM_001378454.1(ALMS1):c.55_56insCGG (p.Glu18_Glu19insAla)
NM_001378454.1(ALMS1):c.5600A>G (p.Asp1867Gly)
NM_001378454.1(ALMS1):c.5612T>G (p.Val1871Gly)
NM_001378454.1(ALMS1):c.5623G>A (p.Ala1875Thr) rs768147561
NM_001378454.1(ALMS1):c.5641C>T (p.Pro1881Ser)
NM_001378454.1(ALMS1):c.5645C>T (p.Ala1882Val)
NM_001378454.1(ALMS1):c.564C>A (p.Pro188=)
NM_001378454.1(ALMS1):c.566C>T (p.Ser189Phe)
NM_001378454.1(ALMS1):c.5681G>T (p.Ser1894Ile)
NM_001378454.1(ALMS1):c.5687A>G (p.Tyr1896Cys)
NM_001378454.1(ALMS1):c.5690C>T (p.Ser1897Leu)
NM_001378454.1(ALMS1):c.5698G>A (p.Glu1900Lys)
NM_001378454.1(ALMS1):c.5704G>A (p.Ala1902Thr) rs1254278225
NM_001378454.1(ALMS1):c.5709T>C (p.Ser1903=)
NM_001378454.1(ALMS1):c.5714T>G (p.Phe1905Cys) rs1553404125
NM_001378454.1(ALMS1):c.5720A>G (p.Gln1907Arg)
NM_001378454.1(ALMS1):c.5732C>T (p.Pro1911Leu) rs1671960359
NM_001378454.1(ALMS1):c.5741C>T (p.Thr1914Ile)
NM_001378454.1(ALMS1):c.574G>A (p.Glu192Lys)
NM_001378454.1(ALMS1):c.5752T>C (p.Leu1918=)
NM_001378454.1(ALMS1):c.5764G>T (p.Val1922Phe)
NM_001378454.1(ALMS1):c.5767G>A (p.Val1923Ile) rs772665115
NM_001378454.1(ALMS1):c.5771C>G (p.Pro1924Arg)
NM_001378454.1(ALMS1):c.5785C>T (p.Arg1929Trp) rs938557636
NM_001378454.1(ALMS1):c.57G>A (p.Glu19=) rs866503570
NM_001378454.1(ALMS1):c.5800C>T (p.Pro1934Ser)
NM_001378454.1(ALMS1):c.5801C>T (p.Pro1934Leu)
NM_001378454.1(ALMS1):c.5806G>A (p.Val1936Ile)
NM_001378454.1(ALMS1):c.5809C>G (p.Pro1937Ala)
NM_001378454.1(ALMS1):c.5814A>C (p.Leu1938Phe) rs1432463036
NM_001378454.1(ALMS1):c.5815A>G (p.Ser1939Gly)
NM_001378454.1(ALMS1):c.5818T>G (p.Tyr1940Asp)
NM_001378454.1(ALMS1):c.5819A>C (p.Tyr1940Ser)
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>T (p.Arg1943Leu) rs146669152
NM_001378454.1(ALMS1):c.5830A>G (p.Arg1944Gly)
NM_001378454.1(ALMS1):c.5831G>A (p.Arg1944Lys) rs2103787852
NM_001378454.1(ALMS1):c.5843G>T (p.Ser1948Ile) rs1300252739
NM_001378454.1(ALMS1):c.5848A>G (p.Ile1950Val) rs140062566
NM_001378454.1(ALMS1):c.5867C>A (p.Pro1956Gln) rs1671963819
NM_001378454.1(ALMS1):c.5870A>G (p.Asp1957Gly) rs1464393698
NM_001378454.1(ALMS1):c.5877T>A (p.His1959Gln)
NM_001378454.1(ALMS1):c.5881A>T (p.Thr1961Ser) rs1249655262
NM_001378454.1(ALMS1):c.5894T>G (p.Leu1965Arg)
NM_001378454.1(ALMS1):c.58G>A (p.Glu20Lys)
NM_001378454.1(ALMS1):c.5904_5912del (p.Pro1969_Ser1971del) rs1060500042
NM_001378454.1(ALMS1):c.5912C>A (p.Ser1971Tyr)
NM_001378454.1(ALMS1):c.5917C>T (p.Pro1973Ser)
NM_001378454.1(ALMS1):c.591A>C (p.Gln197His)
NM_001378454.1(ALMS1):c.5931G>C (p.Lys1977Asn) rs886056305
NM_001378454.1(ALMS1):c.5931G>T (p.Lys1977Asn)
NM_001378454.1(ALMS1):c.5933C>G (p.Thr1978Ser)
NM_001378454.1(ALMS1):c.5935G>A (p.Gly1979Arg) rs1671966142
NM_001378454.1(ALMS1):c.5944A>G (p.Ile1982Val)
NM_001378454.1(ALMS1):c.5952_5954del (p.Ser1987del)
NM_001378454.1(ALMS1):c.5956_5957delinsGT (p.Ser1986Val) rs2103788302
NM_001378454.1(ALMS1):c.5963A>G (p.Tyr1988Cys) rs757977017
NM_001378454.1(ALMS1):c.5968C>T (p.His1990Tyr)
NM_001378454.1(ALMS1):c.596A>G (p.Glu199Gly) rs1553399974
NM_001378454.1(ALMS1):c.5976T>G (p.His1992Gln) rs2103788393
NM_001378454.1(ALMS1):c.6004_6090dup (p.His2002_Val2030dup) rs2103788416
NM_001378454.1(ALMS1):c.6008T>C (p.Ile2003Thr)
NM_001378454.1(ALMS1):c.6009A>G (p.Ile2003Met)
NM_001378454.1(ALMS1):c.6014A>G (p.Asp2005Gly) rs886056306
NM_001378454.1(ALMS1):c.6016G>A (p.Asp2006Asn) rs1671968768
NM_001378454.1(ALMS1):c.6024A>C (p.Lys2008Asn) rs1671969063
NM_001378454.1(ALMS1):c.6025A>T (p.Thr2009Ser) rs2103788606
NM_001378454.1(ALMS1):c.6035C>G (p.Pro2012Arg) rs750993966
NM_001378454.1(ALMS1):c.6035C>T (p.Pro2012Leu)
NM_001378454.1(ALMS1):c.6041C>T (p.Ala2014Val)
NM_001378454.1(ALMS1):c.6056A>G (p.Tyr2019Cys)
NM_001378454.1(ALMS1):c.605_610del (p.Val202_Lys203del) rs1553399981
NM_001378454.1(ALMS1):c.6066A>G (p.Ile2022Met) rs780333829
NM_001378454.1(ALMS1):c.6068A>G (p.Glu2023Gly) rs376120513
NM_001378454.1(ALMS1):c.6070A>G (p.Lys2024Glu) rs886056307
NM_001378454.1(ALMS1):c.6085A>T (p.Thr2029Ser) rs759478895
NM_001378454.1(ALMS1):c.608A>G (p.Lys203Arg)
NM_001378454.1(ALMS1):c.6093T>G (p.Ile2031Met) rs2103788896
NM_001378454.1(ALMS1):c.6094G>A (p.Gly2032Arg) rs1671971419
NM_001378454.1(ALMS1):c.60_61insAAGGAG (p.Glu20_Glu21insLysGlu) rs2104057268
NM_001378454.1(ALMS1):c.60_61insCAG (p.Glu20_Glu21insGln) rs1553396137
NM_001378454.1(ALMS1):c.6100A>G (p.Asn2034Asp) rs1206923047
NM_001378454.1(ALMS1):c.6107A>G (p.Gln2036Arg)
NM_001378454.1(ALMS1):c.6111G>T (p.Lys2037Asn)
NM_001378454.1(ALMS1):c.6112A>T (p.Thr2038Ser) rs369011755
NM_001378454.1(ALMS1):c.6123G>C (p.Gln2041His)
NM_001378454.1(ALMS1):c.6125C>T (p.Thr2042Ile)
NM_001378454.1(ALMS1):c.6134A>G (p.His2045Arg)
NM_001378454.1(ALMS1):c.6139T>A (p.Ser2047Thr) rs886056308
NM_001378454.1(ALMS1):c.6143A>C (p.Tyr2048Ser) rs201162418
NM_001378454.1(ALMS1):c.6151A>G (p.Thr2051Ala) rs2103789073
NM_001378454.1(ALMS1):c.6152C>T (p.Thr2051Ile)
NM_001378454.1(ALMS1):c.6158A>T (p.Lys2053Met)
NM_001378454.1(ALMS1):c.6161C>G (p.Pro2054Arg)
NM_001378454.1(ALMS1):c.6164A>G (p.Asn2055Ser)
NM_001378454.1(ALMS1):c.6164A>T (p.Asn2055Ile) rs772187394
NM_001378454.1(ALMS1):c.6168T>G (p.Ile2056Met) rs775610057
NM_001378454.1(ALMS1):c.6171A>T (p.Leu2057Phe) rs2103789184
NM_001378454.1(ALMS1):c.6182A>T (p.Gln2061Leu)
NM_001378454.1(ALMS1):c.6183G>T (p.Gln2061His)
NM_001378454.1(ALMS1):c.6192T>A (p.Asp2064Glu)
NM_001378454.1(ALMS1):c.6194G>A (p.Arg2065Lys) rs2103789247
NM_001378454.1(ALMS1):c.6209G>T (p.Gly2070Val)
NM_001378454.1(ALMS1):c.6211A>G (p.Ile2071Val) rs1020163869
NM_001378454.1(ALMS1):c.6215T>C (p.Leu2072Pro) rs1382952433
NM_001378454.1(ALMS1):c.6221T>G (p.Ile2074Ser)
NM_001378454.1(ALMS1):c.6226G>T (p.Ala2076Ser)
NM_001378454.1(ALMS1):c.6229G>C (p.Val2077Leu) rs779402813
NM_001378454.1(ALMS1):c.6232C>T (p.Pro2078Ser) rs1050140750
NM_001378454.1(ALMS1):c.6235G>A (p.Glu2079Lys) rs758696535
NM_001378454.1(ALMS1):c.6238C>G (p.Leu2080Val)
NM_001378454.1(ALMS1):c.624T>A (p.Asp208Glu) rs1671241779
NM_001378454.1(ALMS1):c.6254C>T (p.Thr2085Ile) rs1266867585
NM_001378454.1(ALMS1):c.6275C>G (p.Ser2092Cys) rs749180234
NM_001378454.1(ALMS1):c.6277A>G (p.Ser2093Gly) rs2103789537
NM_001378454.1(ALMS1):c.6292A>G (p.Arg2098Gly)
NM_001378454.1(ALMS1):c.6296_6301del (p.Glu2099_Ser2101delinsAla)
NM_001378454.1(ALMS1):c.6304A>C (p.Asn2102His) rs1386959032
NM_001378454.1(ALMS1):c.6317C>T (p.Pro2106Leu)
NM_001378454.1(ALMS1):c.6320A>G (p.Gln2107Arg)
NM_001378454.1(ALMS1):c.6323A>G (p.Glu2108Gly)
NM_001378454.1(ALMS1):c.6328C>T (p.Pro2110Ser) rs1243321319
NM_001378454.1(ALMS1):c.632G>C (p.Cys211Ser)
NM_001378454.1(ALMS1):c.635C>T (p.Ser212Phe) rs2103701987
NM_001378454.1(ALMS1):c.6361G>T (p.Val2121Phe)
NM_001378454.1(ALMS1):c.6380C>T (p.Pro2127Leu) rs2103789910
NM_001378454.1(ALMS1):c.6397G>T (p.Val2133Leu)
NM_001378454.1(ALMS1):c.63_64insAAG (p.Glu21_Glu22insLys) rs905301935
NM_001378454.1(ALMS1):c.6406_6408dup (p.Thr2136_Ala2137insThr)
NM_001378454.1(ALMS1):c.6409G>C (p.Ala2137Pro) rs2103789992
NM_001378454.1(ALMS1):c.6419G>C (p.Ser2140Thr) rs1671979572
NM_001378454.1(ALMS1):c.6422C>T (p.Ser2141Phe)
NM_001378454.1(ALMS1):c.6433C>A (p.Arg2145=) rs770558150
NM_001378454.1(ALMS1):c.6433C>G (p.Arg2145Gly)
NM_001378454.1(ALMS1):c.6448A>G (p.Ile2150Val)
NM_001378454.1(ALMS1):c.6455A>G (p.Tyr2152Cys)
NM_001378454.1(ALMS1):c.6455A>T (p.Tyr2152Phe)
NM_001378454.1(ALMS1):c.645A>G (p.Leu215=)
NM_001378454.1(ALMS1):c.646+3A>G rs1553399994
NM_001378454.1(ALMS1):c.646+4A>T rs1270489328
NM_001378454.1(ALMS1):c.646+5T>C rs1235104737
NM_001378454.1(ALMS1):c.647-3C>T rs1671310064
NM_001378454.1(ALMS1):c.647-4A>G rs1553400427
NM_001378454.1(ALMS1):c.6472G>A (p.Asp2158Asn) rs545636120
NM_001378454.1(ALMS1):c.6479A>G (p.His2160Arg) rs781245006
NM_001378454.1(ALMS1):c.64_65insTGG (p.Glu21_Glu22insVal) rs1553396144
NM_001378454.1(ALMS1):c.6502A>G (p.Ile2168Val)
NM_001378454.1(ALMS1):c.650T>C (p.Ile217Thr)
NM_001378454.1(ALMS1):c.6514C>T (p.Leu2172Phe)
NM_001378454.1(ALMS1):c.6523G>A (p.Ala2175Thr) rs1572937937
NM_001378454.1(ALMS1):c.6524C>T (p.Ala2175Val) rs549259627
NM_001378454.1(ALMS1):c.6535A>G (p.Thr2179Ala) rs907136479
NM_001378454.1(ALMS1):c.6538G>C (p.Gly2180Arg) rs145953016
NM_001378454.1(ALMS1):c.653A>G (p.Gln218Arg)
NM_001378454.1(ALMS1):c.6550G>A (p.Val2184Ile)
NM_001378454.1(ALMS1):c.6566A>G (p.Tyr2189Cys)
NM_001378454.1(ALMS1):c.6572A>G (p.His2191Arg)
NM_001378454.1(ALMS1):c.6575G>A (p.Gly2192Asp)
NM_001378454.1(ALMS1):c.6587A>G (p.Lys2196Arg) rs2103790737
NM_001378454.1(ALMS1):c.658A>G (p.Ser220Gly) rs2103710382
NM_001378454.1(ALMS1):c.6590T>G (p.Leu2197Arg) rs2103790750
NM_001378454.1(ALMS1):c.659G>A (p.Ser220Asn) rs2103710395
NM_001378454.1(ALMS1):c.6612G>C (p.Arg2204Ser) rs758379924
NM_001378454.1(ALMS1):c.6612G>T (p.Arg2204Ser)
NM_001378454.1(ALMS1):c.6615A>C (p.Leu2205=)
NM_001378454.1(ALMS1):c.6617T>G (p.Ile2206Arg) rs1671985244
NM_001378454.1(ALMS1):c.6627G>C (p.Leu2209Phe)
NM_001378454.1(ALMS1):c.6632C>A (p.Ser2211Tyr) rs1357695377
NM_001378454.1(ALMS1):c.6637G>C (p.Asp2213His)
NM_001378454.1(ALMS1):c.6649A>G (p.Ser2217Gly)
NM_001378454.1(ALMS1):c.665C>T (p.Ala222Val)
NM_001378454.1(ALMS1):c.6665T>C (p.Leu2222Pro)
NM_001378454.1(ALMS1):c.6668T>C (p.Leu2223Ser)
NM_001378454.1(ALMS1):c.6679G>A (p.Ala2227Thr)
NM_001378454.1(ALMS1):c.6679G>C (p.Ala2227Pro) rs1671986679
NM_001378454.1(ALMS1):c.6688A>G (p.Arg2230Gly)
NM_001378454.1(ALMS1):c.6689G>C (p.Arg2230Thr) rs1671986841
NM_001378454.1(ALMS1):c.66_67insAAG (p.Glu22_Glu23insLys)
NM_001378454.1(ALMS1):c.66_67insAAGGAG (p.Glu22_Glu23insLysGlu) rs1553396142
NM_001378454.1(ALMS1):c.6706C>T (p.Pro2236Ser) rs200724860
NM_001378454.1(ALMS1):c.6716C>T (p.Ala2239Val)
NM_001378454.1(ALMS1):c.6717A>G (p.Ala2239=)
NM_001378454.1(ALMS1):c.6723T>C (p.Phe2241=) rs1671987512
NM_001378454.1(ALMS1):c.6729T>A (p.Asp2243Glu)
NM_001378454.1(ALMS1):c.6731T>C (p.Val2244Ala) rs1671987655
NM_001378454.1(ALMS1):c.6745A>T (p.Ile2249Phe) rs946232848
NM_001378454.1(ALMS1):c.6766G>C (p.Ala2256Pro)
NM_001378454.1(ALMS1):c.6770A>G (p.Lys2257Arg)
NM_001378454.1(ALMS1):c.6775C>G (p.Leu2259Val) rs748833907
NM_001378454.1(ALMS1):c.6787C>T (p.Arg2263Trp)
NM_001378454.1(ALMS1):c.6788G>A (p.Arg2263Gln)
NM_001378454.1(ALMS1):c.6799A>G (p.Met2267Val) rs142904692
NM_001378454.1(ALMS1):c.6799A>T (p.Met2267Leu)
NM_001378454.1(ALMS1):c.6803A>G (p.Glu2268Gly)
NM_001378454.1(ALMS1):c.6811A>G (p.Asn2271Asp) rs1558651314
NM_001378454.1(ALMS1):c.6816G>T (p.Met2272Ile) rs765233946
NM_001378454.1(ALMS1):c.6829T>C (p.Cys2277Arg) rs1671989930
NM_001378454.1(ALMS1):c.6831C>G (p.Cys2277Trp) rs761713440
NM_001378454.1(ALMS1):c.6847C>T (p.Leu2283Phe) rs886056309
NM_001378454.1(ALMS1):c.6848T>G (p.Leu2283Arg) rs1442336894
NM_001378454.1(ALMS1):c.6850G>C (p.Ala2284Pro)
NM_001378454.1(ALMS1):c.6853C>G (p.Arg2285Gly) rs375458331
NM_001378454.1(ALMS1):c.6854G>A (p.Arg2285His) rs6546839
NM_001378454.1(ALMS1):c.6854G>T (p.Arg2285Leu) rs6546839
NM_001378454.1(ALMS1):c.6856T>C (p.Phe2286Leu)
NM_001378454.1(ALMS1):c.6858C>T (p.Phe2286=)
NM_001378454.1(ALMS1):c.686T>C (p.Leu229Pro)
NM_001378454.1(ALMS1):c.6886C>G (p.Gln2296Glu) rs747355678
NM_001378454.1(ALMS1):c.688A>G (p.Thr230Ala) rs2103710477
NM_001378454.1(ALMS1):c.6899T>C (p.Val2300Ala) rs1057523384
NM_001378454.1(ALMS1):c.68_69insAGA (p.Glu28_Ala29insGlu)
NM_001378454.1(ALMS1):c.68_69insAGAGGAGGAGGA (p.Glu25_Glu28dup) rs2104057317
NM_001378454.1(ALMS1):c.68_69insAGAGGAGGAGGAGGAGGAGGA (p.Glu28_Ala29insGluGluGluGluGluGluGlu)
NM_001378454.1(ALMS1):c.6901G>A (p.Val2301Ile) rs1671992482
NM_001378454.1(ALMS1):c.6916C>T (p.Pro2306Ser)
NM_001378454.1(ALMS1):c.6917C>G (p.Pro2306Arg)
NM_001378454.1(ALMS1):c.6923C>A (p.Ser2308Tyr)
NM_001378454.1(ALMS1):c.6944A>T (p.Asp2315Val) rs2103792016
NM_001378454.1(ALMS1):c.6948G>T (p.Leu2316Phe)
NM_001378454.1(ALMS1):c.6968C>T (p.Thr2323Ile) rs1671994565
NM_001378454.1(ALMS1):c.6971A>G (p.Glu2324Gly)
NM_001378454.1(ALMS1):c.6975A>G (p.Glu2325=) rs1455390186
NM_001378454.1(ALMS1):c.69_70insAAG (p.Glu23_Glu24insLys) rs1006328829
NM_001378454.1(ALMS1):c.7000A>G (p.Lys2334Glu)
NM_001378454.1(ALMS1):c.7004A>T (p.Asp2335Val) rs771422712
NM_001378454.1(ALMS1):c.7006A>G (p.Ile2336Val)
NM_001378454.1(ALMS1):c.7007T>C (p.Ile2336Thr) rs746208159
NM_001378454.1(ALMS1):c.7007T>G (p.Ile2336Ser)
NM_001378454.1(ALMS1):c.7013C>A (p.Thr2338Lys) rs373004988
NM_001378454.1(ALMS1):c.7019C>T (p.Thr2340Met)
NM_001378454.1(ALMS1):c.7031G>C (p.Cys2344Ser) rs148306148
NM_001378454.1(ALMS1):c.7084C>T (p.Pro2362Ser) rs2103792526
NM_001378454.1(ALMS1):c.7087C>G (p.Leu2363Val)
NM_001378454.1(ALMS1):c.7093G>A (p.Glu2365Lys) rs1572938591
NM_001378454.1(ALMS1):c.70_71insCGG (p.Glu23_Glu24insAla) rs1442274468
NM_001378454.1(ALMS1):c.7103G>A (p.Ser2368Asn) rs781640600
NM_001378454.1(ALMS1):c.7105A>G (p.Lys2369Glu) rs2103792593
NM_001378454.1(ALMS1):c.710A>G (p.Glu237Gly) rs2103710589
NM_001378454.1(ALMS1):c.7111A>C (p.Ser2371Arg) rs2103792619
NM_001378454.1(ALMS1):c.7145A>G (p.Gln2382Arg)
NM_001378454.1(ALMS1):c.7160_7161delinsGT (p.Val2387Gly) rs2103792865
NM_001378454.1(ALMS1):c.7167G>T (p.Arg2389Ser) rs1553404408
NM_001378454.1(ALMS1):c.7175C>T (p.Pro2392Leu) rs1384040049
NM_001378454.1(ALMS1):c.7184G>A (p.Cys2395Tyr)
NM_001378454.1(ALMS1):c.718C>T (p.Pro240Ser)
NM_001378454.1(ALMS1):c.7193C>A (p.Thr2398Asn) rs200470452
NM_001378454.1(ALMS1):c.7193C>T (p.Thr2398Ile) rs200470452
NM_001378454.1(ALMS1):c.719C>T (p.Pro240Leu)
NM_001378454.1(ALMS1):c.71_72insAGA (p.Glu28dup) rs2104057693
NM_001378454.1(ALMS1):c.7209TAT[1] (p.Ile2405del)
NM_001378454.1(ALMS1):c.7219A>G (p.Met2407Val) rs1198704030
NM_001378454.1(ALMS1):c.7227T>A (p.Thr2409=) rs768032353
NM_001378454.1(ALMS1):c.7246A>G (p.Ser2416Gly)
NM_001378454.1(ALMS1):c.7250G>C (p.Ser2417Thr)
NM_001378454.1(ALMS1):c.7250G>T (p.Ser2417Ile)
NM_001378454.1(ALMS1):c.7256C>T (p.Ala2419Val) rs1672001133
NM_001378454.1(ALMS1):c.725C>A (p.Ser242Tyr)
NM_001378454.1(ALMS1):c.725C>G (p.Ser242Cys)
NM_001378454.1(ALMS1):c.7262A>G (p.Asp2421Gly) rs886056310
NM_001378454.1(ALMS1):c.7273T>G (p.Ser2425Ala)
NM_001378454.1(ALMS1):c.7277G>T (p.Cys2426Phe) rs35649068
NM_001378454.1(ALMS1):c.7280C>T (p.Ser2427Leu)
NM_001378454.1(ALMS1):c.7288A>G (p.Ser2430Gly) rs539112266
NM_001378454.1(ALMS1):c.728T>C (p.Leu243Ser) rs2103710678
NM_001378454.1(ALMS1):c.7298C>G (p.Pro2433Arg) rs2103793431
NM_001378454.1(ALMS1):c.72_73insAAG (p.Glu24_Glu25insLys) rs1553396155
NM_001378454.1(ALMS1):c.7310A>T (p.Glu2437Val)
NM_001378454.1(ALMS1):c.7315G>C (p.Val2439Leu)
NM_001378454.1(ALMS1):c.7325T>A (p.Val2442Asp) rs886056311
NM_001378454.1(ALMS1):c.7332_7333insGGA (p.Leu2444_Asn2445insGly) rs2103793539
NM_001378454.1(ALMS1):c.7346A>G (p.Tyr2449Cys) rs766767334
NM_001378454.1(ALMS1):c.7361C>T (p.Thr2454Ile)
NM_001378454.1(ALMS1):c.7370C>T (p.Thr2457Ile)
NM_001378454.1(ALMS1):c.7375A>G (p.Ser2459Gly)
NM_001378454.1(ALMS1):c.7377C>T (p.Ser2459=) rs867561704
NM_001378454.1(ALMS1):c.737A>C (p.Gln246Pro) rs779584471
NM_001378454.1(ALMS1):c.7381G>C (p.Glu2461Gln)
NM_001378454.1(ALMS1):c.7388A>G (p.Glu2463Gly)
NM_001378454.1(ALMS1):c.7391G>A (p.Gly2464Asp) rs779815578
NM_001378454.1(ALMS1):c.7406A>G (p.Glu2469Gly)
NM_001378454.1(ALMS1):c.7407G>T (p.Glu2469Asp)
NM_001378454.1(ALMS1):c.7412G>T (p.Gly2471Val) rs1672005992
NM_001378454.1(ALMS1):c.7414G>C (p.Gly2472Arg) rs1672006091
NM_001378454.1(ALMS1):c.7418G>A (p.Gly2473Asp) rs1348368424
NM_001378454.1(ALMS1):c.7423A>G (p.Ser2475Gly) rs2103793967
NM_001378454.1(ALMS1):c.7430A>G (p.Asp2477Gly)
NM_001378454.1(ALMS1):c.7432T>G (p.Ser2478Ala) rs1672006362
NM_001378454.1(ALMS1):c.7439C>T (p.Ala2480Val) rs2103793995
NM_001378454.1(ALMS1):c.7444C>A (p.His2482Asn)
NM_001378454.1(ALMS1):c.7448T>A (p.Val2483Glu)
NM_001378454.1(ALMS1):c.7455C>A (p.Asn2485Lys) rs988216695
NM_001378454.1(ALMS1):c.7457T>C (p.Leu2486Pro)
NM_001378454.1(ALMS1):c.7463A>T (p.Gln2488Leu)
NM_001378454.1(ALMS1):c.7470A>C (p.Glu2490Asp) rs1180605370
NM_001378454.1(ALMS1):c.7492G>C (p.Glu2498Gln)
NM_001378454.1(ALMS1):c.749G>C (p.Ser250Thr) rs2103710757
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_75insGGAAGA (p.Glu27_Glu28dup) rs1491479006
NM_001378454.1(ALMS1):c.74_75insGGAAGAGGAGGAGGAGGA (p.Glu23_Glu28dup) rs1182322031
NM_001378454.1(ALMS1):c.74_75insGGAAGAGGAGGAGGAGGAGGA (p.Glu22_Glu28dup) rs2104057327
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAAGA (p.Glu28_Ala29insGluGluGluGluGlu)
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAAGAGGAGGAGGAGGAGGA (p.Glu19_Glu28dup) rs2104057327
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGA (p.Glu18_Glu28dup) rs2104057327
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGA (p.Glu28_Ala29insGluGluGluGluGluGluGluGluGluGluGluGluGlu)
NM_001378454.1(ALMS1):c.74_75insGGC (p.Glu25_Glu26insAla) rs1553396120
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.7532G>A (p.Arg2511Gln)
NM_001378454.1(ALMS1):c.7539_7540insAAT (p.His2513_Ala2514insAsn) rs757932553
NM_001378454.1(ALMS1):c.7540+3A>G
NM_001378454.1(ALMS1):c.7540+9A>T
NM_001378454.1(ALMS1):c.7541-11T>C
NM_001378454.1(ALMS1):c.7541-4C>G rs1380143996
NM_001378454.1(ALMS1):c.7541-8C>A rs1553404629
NM_001378454.1(ALMS1):c.7547A>G (p.Asn2516Ser)
NM_001378454.1(ALMS1):c.7553A>G (p.Lys2518Arg)
NM_001378454.1(ALMS1):c.755C>T (p.Ala252Val) rs2103710779
NM_001378454.1(ALMS1):c.7562T>C (p.Leu2521Ser)
NM_001378454.1(ALMS1):c.7564G>A (p.Ala2522Thr) rs2103797392
NM_001378454.1(ALMS1):c.7590A>G (p.Ser2530=)
NM_001378454.1(ALMS1):c.7598A>G (p.Asn2533Ser)
NM_001378454.1(ALMS1):c.7599T>G (p.Asn2533Lys)
NM_001378454.1(ALMS1):c.75_77del (p.Glu28del) rs1553396161
NM_001378454.1(ALMS1):c.75_77dup (p.Glu28dup) rs1553396161
NM_001378454.1(ALMS1):c.75_80dup (p.Glu27_Glu28dup) rs754175473
NM_001378454.1(ALMS1):c.7600G>A (p.Glu2534Lys)
NM_001378454.1(ALMS1):c.7604A>T (p.Asp2535Val)
NM_001378454.1(ALMS1):c.7629C>G (p.Ile2543Met)
NM_001378454.1(ALMS1):c.762G>A (p.Leu254=)
NM_001378454.1(ALMS1):c.7639T>C (p.Leu2547=)
NM_001378454.1(ALMS1):c.7639T>G (p.Leu2547Val) rs200155429
NM_001378454.1(ALMS1):c.764+3A>G rs772334395
NM_001378454.1(ALMS1):c.7641A>G (p.Leu2547=)
NM_001378454.1(ALMS1):c.7642T>C (p.Phe2548Leu)
NM_001378454.1(ALMS1):c.765-13TA[2] rs1553400662
NM_001378454.1(ALMS1):c.765-6T>A rs755762723
NM_001378454.1(ALMS1):c.7652G>A (p.Gly2551Glu)
NM_001378454.1(ALMS1):c.7658C>T (p.Thr2553Ile)
NM_001378454.1(ALMS1):c.7660A>G (p.Thr2554Ala)
NM_001378454.1(ALMS1):c.7670C>T (p.Ser2557Phe) rs878855001
NM_001378454.1(ALMS1):c.7674+16G>A
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.7676G>T (p.Gly2559Val)
NM_001378454.1(ALMS1):c.7682A>G (p.Gln2561Arg)
NM_001378454.1(ALMS1):c.7682A>T (p.Gln2561Leu)
NM_001378454.1(ALMS1):c.7684A>C (p.Ser2562Arg) rs772417159
NM_001378454.1(ALMS1):c.7684A>G (p.Ser2562Gly)
NM_001378454.1(ALMS1):c.7685G>A (p.Ser2562Asn) rs1672930739
NM_001378454.1(ALMS1):c.7688C>G (p.Pro2563Arg)
NM_001378454.1(ALMS1):c.7688C>T (p.Pro2563Leu)
NM_001378454.1(ALMS1):c.7690C>G (p.Arg2564Gly) rs554047243
NM_001378454.1(ALMS1):c.7690C>T (p.Arg2564Trp)
NM_001378454.1(ALMS1):c.7691G>A (p.Arg2564Gln)
NM_001378454.1(ALMS1):c.76G>C (p.Glu26Gln)
NM_001378454.1(ALMS1):c.7709C>G (p.Pro2570Arg)
NM_001378454.1(ALMS1):c.770T>A (p.Ile257Asn)
NM_001378454.1(ALMS1):c.7724G>C (p.Ser2575Thr)
NM_001378454.1(ALMS1):c.7729A>G (p.Ile2577Val)
NM_001378454.1(ALMS1):c.7732A>G (p.Ile2578Val)
NM_001378454.1(ALMS1):c.7735A>T (p.Ile2579Phe)
NM_001378454.1(ALMS1):c.7736T>C (p.Ile2579Thr)
NM_001378454.1(ALMS1):c.7738G>A (p.Glu2580Lys)
NM_001378454.1(ALMS1):c.7739A>G (p.Glu2580Gly) rs2103889306
NM_001378454.1(ALMS1):c.7740G>C (p.Glu2580Asp) rs543921060
NM_001378454.1(ALMS1):c.7742G>A (p.Ser2581Asn)
NM_001378454.1(ALMS1):c.7743C>A (p.Ser2581Arg) rs370740871
NM_001378454.1(ALMS1):c.7744C>T (p.His2582Tyr) rs2103889340
NM_001378454.1(ALMS1):c.7750A>G (p.Lys2584Glu) rs776783409
NM_001378454.1(ALMS1):c.7752G>C (p.Lys2584Asn)
NM_001378454.1(ALMS1):c.7755A>G (p.Gly2585=) rs1672933172
NM_001378454.1(ALMS1):c.775G>C (p.Asp259His)
NM_001378454.1(ALMS1):c.7762C>T (p.Arg2588Trp)
NM_001378454.1(ALMS1):c.7763G>A (p.Arg2588Gln)
NM_001378454.1(ALMS1):c.7772C>G (p.Thr2591Ser) rs2103889489
NM_001378454.1(ALMS1):c.7792G>T (p.Asp2598Tyr)
NM_001378454.1(ALMS1):c.77A>C (p.Glu26Ala)
NM_001378454.1(ALMS1):c.7801C>T (p.Pro2601Ser) rs1553409608
NM_001378454.1(ALMS1):c.7802C>A (p.Pro2601His) rs2103889598
NM_001378454.1(ALMS1):c.780G>A (p.Lys260=) rs1553400683
NM_001378454.1(ALMS1):c.7810T>G (p.Phe2604Val) rs1220754616
NM_001378454.1(ALMS1):c.7811T>C (p.Phe2604Ser) rs1672935406
NM_001378454.1(ALMS1):c.7817C>G (p.Ser2606Cys)
NM_001378454.1(ALMS1):c.7825C>A (p.Pro2609Thr) rs2103889689
NM_001378454.1(ALMS1):c.782C>G (p.Ser261Cys) rs1671339296
NM_001378454.1(ALMS1):c.7836G>A (p.Met2612Ile)
NM_001378454.1(ALMS1):c.7844G>A (p.Gly2615Glu)
NM_001378454.1(ALMS1):c.7847G>A (p.Arg2616Gln)
NM_001378454.1(ALMS1):c.7854C>G (p.Asn2618Lys)
NM_001378454.1(ALMS1):c.7856C>G (p.Pro2619Arg) rs1672936863
NM_001378454.1(ALMS1):c.786_788dup (p.Glu262_Asp263insGlu)
NM_001378454.1(ALMS1):c.7870G>A (p.Ala2624Thr)
NM_001378454.1(ALMS1):c.7870G>C (p.Ala2624Pro)
NM_001378454.1(ALMS1):c.7878T>A (p.His2626Gln) rs940478567
NM_001378454.1(ALMS1):c.7888T>G (p.Ser2630Ala) rs1672937962
NM_001378454.1(ALMS1):c.7898T>C (p.Leu2633Ser) rs2103889971
NM_001378454.1(ALMS1):c.7900G>T (p.Asp2634Tyr) rs201426207
NM_001378454.1(ALMS1):c.7901A>G (p.Asp2634Gly) rs1368206928
NM_001378454.1(ALMS1):c.7904A>G (p.Gln2635Arg)
NM_001378454.1(ALMS1):c.7913C>A (p.Ser2638Tyr)
NM_001378454.1(ALMS1):c.7927T>C (p.Trp2643Arg)
NM_001378454.1(ALMS1):c.793G>A (p.Glu265Lys)
NM_001378454.1(ALMS1):c.7940A>G (p.Gln2647Arg) rs2103890068
NM_001378454.1(ALMS1):c.7948A>C (p.Ser2650Arg) rs567474729
NM_001378454.1(ALMS1):c.7957C>G (p.Pro2653Ala)
NM_001378454.1(ALMS1):c.7964A>G (p.Gln2655Arg)
NM_001378454.1(ALMS1):c.7969T>C (p.Phe2657Leu)
NM_001378454.1(ALMS1):c.7975C>T (p.Pro2659Ser)
NM_001378454.1(ALMS1):c.7981G>A (p.Glu2661Lys) rs762452929
NM_001378454.1(ALMS1):c.7994G>C (p.Ser2665Thr) rs1672940448
NM_001378454.1(ALMS1):c.7997A>C (p.Lys2666Thr) rs2103890229
NM_001378454.1(ALMS1):c.7999G>C (p.Gly2667Arg)
NM_001378454.1(ALMS1):c.7C>T (p.Pro3Ser)
NM_001378454.1(ALMS1):c.8002C>T (p.Leu2668Phe)
NM_001378454.1(ALMS1):c.8017_8018delinsCC (p.Asp2673Pro) rs2103890304
NM_001378454.1(ALMS1):c.8018A>G (p.Asp2673Gly)
NM_001378454.1(ALMS1):c.8019T>A (p.Asp2673Glu)
NM_001378454.1(ALMS1):c.8021A>G (p.Glu2674Gly)
NM_001378454.1(ALMS1):c.8025G>C (p.Lys2675Asn) rs2103890339
NM_001378454.1(ALMS1):c.8026A>T (p.Met2676Leu)
NM_001378454.1(ALMS1):c.8028G>A (p.Met2676Ile)
NM_001378454.1(ALMS1):c.802T>C (p.Ser268Pro) rs2103714536
NM_001378454.1(ALMS1):c.8044G>C (p.Glu2682Gln)
NM_001378454.1(ALMS1):c.8057C>T (p.Pro2686Leu) rs1269143077
NM_001378454.1(ALMS1):c.8068C>G (p.Pro2690Ala)
NM_001378454.1(ALMS1):c.8075AAG[1] (p.Glu2693del) rs1553409676
NM_001378454.1(ALMS1):c.8089C>T (p.His2697Tyr) rs956487104
NM_001378454.1(ALMS1):c.8126A>G (p.Lys2709Arg) rs761242664
NM_001378454.1(ALMS1):c.812C>T (p.Ser271Leu)
NM_001378454.1(ALMS1):c.8135C>T (p.Thr2712Ile)
NM_001378454.1(ALMS1):c.8143A>G (p.Ile2715Val)
NM_001378454.1(ALMS1):c.8146A>C (p.Thr2716Pro) rs1234404032
NM_001378454.1(ALMS1):c.8150T>G (p.Phe2717Cys)
NM_001378454.1(ALMS1):c.8152T>C (p.Ser2718Pro)
NM_001378454.1(ALMS1):c.8156C>G (p.Ser2719Cys) rs1572969357
NM_001378454.1(ALMS1):c.8167T>A (p.Ser2723Thr)
NM_001378454.1(ALMS1):c.816A>G (p.Glu272=)
NM_001378454.1(ALMS1):c.8183A>T (p.Asn2728Ile) rs886758563
NM_001378454.1(ALMS1):c.8197A>C (p.Lys2733Gln) rs1553409698
NM_001378454.1(ALMS1):c.8203G>C (p.Gly2735Arg) rs761136859
NM_001378454.1(ALMS1):c.820A>T (p.Ser274Cys)
NM_001378454.1(ALMS1):c.8215G>A (p.Gly2739Ser)
NM_001378454.1(ALMS1):c.8218A>G (p.Ser2740Gly)
NM_001378454.1(ALMS1):c.8220C>A (p.Ser2740Arg) rs920410396
NM_001378454.1(ALMS1):c.8223G>T (p.Gln2741His)
NM_001378454.1(ALMS1):c.8225G>C (p.Cys2742Ser)
NM_001378454.1(ALMS1):c.8242G>C (p.Gly2748Arg)
NM_001378454.1(ALMS1):c.8245G>A (p.Val2749Ile)
NM_001378454.1(ALMS1):c.8246T>C (p.Val2749Ala) rs2103891180
NM_001378454.1(ALMS1):c.8252A>G (p.Asn2751Ser)
NM_001378454.1(ALMS1):c.8254T>A (p.Ser2752Thr)
NM_001378454.1(ALMS1):c.8258A>G (p.His2753Arg)
NM_001378454.1(ALMS1):c.8260T>A (p.Phe2754Ile)
NM_001378454.1(ALMS1):c.8266G>A (p.Glu2756Lys)
NM_001378454.1(ALMS1):c.8267A>G (p.Glu2756Gly)
NM_001378454.1(ALMS1):c.8272C>A (p.Gln2758Lys) rs756042345
NM_001378454.1(ALMS1):c.8275A>T (p.Asn2759Tyr)
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala) rs369650940
NM_001378454.1(ALMS1):c.8281C>T (p.Pro2761Ser)
NM_001378454.1(ALMS1):c.8290C>T (p.Leu2764Phe) rs2103891331
NM_001378454.1(ALMS1):c.8296C>G (p.Gln2766Glu)
NM_001378454.1(ALMS1):c.8299A>G (p.Lys2767Glu)
NM_001378454.1(ALMS1):c.82G>A (p.Glu28Lys) rs1670512542
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.8315CAT[1] (p.Ser2773del) rs770459045
NM_001378454.1(ALMS1):c.8323A>G (p.Lys2775Glu) rs1572969570
NM_001378454.1(ALMS1):c.8324A>G (p.Lys2775Arg)
NM_001378454.1(ALMS1):c.8328G>A (p.Met2776Ile)
NM_001378454.1(ALMS1):c.8335A>G (p.Asn2779Asp) rs1672950651
NM_001378454.1(ALMS1):c.8345A>G (p.Asp2782Gly) rs1672950843
NM_001378454.1(ALMS1):c.8350G>C (p.Glu2784Gln)
NM_001378454.1(ALMS1):c.8358_8363del (p.Ile2787_Leu2788del) rs1553409711
NM_001378454.1(ALMS1):c.8375G>A (p.Arg2792Lys)
NM_001378454.1(ALMS1):c.837G>T (p.Gln279His)
NM_001378454.1(ALMS1):c.8387A>G (p.Gln2796Arg)
NM_001378454.1(ALMS1):c.8388A>T (p.Gln2796His) rs770409935
NM_001378454.1(ALMS1):c.8396C>G (p.Pro2799Arg)
NM_001378454.1(ALMS1):c.8413T>C (p.Ser2805Pro)
NM_001378454.1(ALMS1):c.8419C>A (p.Gln2807Lys) rs1314753569
NM_001378454.1(ALMS1):c.8426A>C (p.Glu2809Ala)
NM_001378454.1(ALMS1):c.8432C>G (p.Pro2811Arg)
NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=) rs886038617
NM_001378454.1(ALMS1):c.8446G>T (p.Asp2816Tyr)
NM_001378454.1(ALMS1):c.8462A>T (p.His2821Leu)
NM_001378454.1(ALMS1):c.8471C>G (p.Pro2824Arg)
NM_001378454.1(ALMS1):c.8479A>C (p.Arg2827=) rs886056312
NM_001378454.1(ALMS1):c.847G>A (p.Glu283Lys) rs780066739
NM_001378454.1(ALMS1):c.8484A>C (p.Ala2828=)
NM_001378454.1(ALMS1):c.8485A>T (p.Asn2829Tyr)
NM_001378454.1(ALMS1):c.8491A>C (p.Ser2831Arg)
NM_001378454.1(ALMS1):c.8495A>C (p.Asn2832Thr)
NM_001378454.1(ALMS1):c.8495A>G (p.Asn2832Ser) rs2103892060
NM_001378454.1(ALMS1):c.8496T>A (p.Asn2832Lys)
NM_001378454.1(ALMS1):c.8501A>G (p.Lys2834Arg) rs1672955488
NM_001378454.1(ALMS1):c.850G>A (p.Val284Ile)
NM_001378454.1(ALMS1):c.8512A>G (p.Ile2838Val)
NM_001378454.1(ALMS1):c.8524C>G (p.His2842Asp) rs1553409736
NM_001378454.1(ALMS1):c.8539A>G (p.Met2847Val)
NM_001378454.1(ALMS1):c.8543G>A (p.Gly2848Asp)
NM_001378454.1(ALMS1):c.8544C>A (p.Gly2848=)
NM_001378454.1(ALMS1):c.8549C>T (p.Pro2850Leu)
NM_001378454.1(ALMS1):c.8555C>G (p.Ser2852Cys) rs2103892251
NM_001378454.1(ALMS1):c.8560_8580del (p.Leu2854_Ser2860del) rs2103892286
NM_001378454.1(ALMS1):c.8564_8565delinsAG (p.Gly2855Glu)
NM_001378454.1(ALMS1):c.8574A>C (p.Arg2858Ser) rs1489673662
NM_001378454.1(ALMS1):c.8576C>T (p.Ser2859Leu)
NM_001378454.1(ALMS1):c.8593G>A (p.Val2865Ile) rs780429128
NM_001378454.1(ALMS1):c.8593G>T (p.Val2865Leu)
NM_001378454.1(ALMS1):c.8597A>C (p.Lys2866Thr)
NM_001378454.1(ALMS1):c.8600A>C (p.Glu2867Ala)
NM_001378454.1(ALMS1):c.8611A>G (p.Thr2871Ala) rs2103892484
NM_001378454.1(ALMS1):c.8614A>G (p.Ile2872Val) rs1672958523
NM_001378454.1(ALMS1):c.8629C>T (p.Pro2877Ser) rs2103892547
NM_001378454.1(ALMS1):c.8630CTT[1] (p.Ser2878del) rs1553409754
NM_001378454.1(ALMS1):c.8636G>T (p.Cys2879Phe) rs747099151
NM_001378454.1(ALMS1):c.8648AAC[1] (p.Gln2884del) rs777935409
NM_001378454.1(ALMS1):c.8654G>T (p.Arg2885Leu)
NM_001378454.1(ALMS1):c.8658_8783del (p.Ser2891_Gln2932del)
NM_001378454.1(ALMS1):c.8669_8672delinsTCTCACT (p.Gln2890_Ser2891delinsLeuSerLeu)
NM_001378454.1(ALMS1):c.8677G>A (p.Ala2893Thr) rs2103892779
NM_001378454.1(ALMS1):c.8683C>A (p.Arg2895Ser) rs765969711
NM_001378454.1(ALMS1):c.8696A>G (p.His2899Arg)
NM_001378454.1(ALMS1):c.8699T>C (p.Val2900Ala) rs1672960979
NM_001378454.1(ALMS1):c.86C>A (p.Ala29Asp)
NM_001378454.1(ALMS1):c.870C>T (p.Ser290=)
NM_001378454.1(ALMS1):c.8710C>T (p.His2904Tyr)
NM_001378454.1(ALMS1):c.871A>G (p.Ser291Gly) rs2103714771
NM_001378454.1(ALMS1):c.8738A>T (p.Tyr2913Phe)
NM_001378454.1(ALMS1):c.8744C>T (p.Ala2915Val)
NM_001378454.1(ALMS1):c.8753T>G (p.Leu2918Arg)
NM_001378454.1(ALMS1):c.8753_8754delinsGA (p.Leu2918Arg)
NM_001378454.1(ALMS1):c.8756CTT[1] (p.Ser2920del) rs1553409775
NM_001378454.1(ALMS1):c.875G>A (p.Arg292His)
NM_001378454.1(ALMS1):c.8770C>T (p.Leu2924Phe)
NM_001378454.1(ALMS1):c.8771T>C (p.Leu2924Pro)
NM_001378454.1(ALMS1):c.8774AAC[1] (p.Gln2926del) rs2103893243
NM_001378454.1(ALMS1):c.8775A>G (p.Glu2925=) rs1672963670
NM_001378454.1(ALMS1):c.8776C>A (p.Gln2926Lys)
NM_001378454.1(ALMS1):c.8778A>G (p.Gln2926=)
NM_001378454.1(ALMS1):c.8788T>G (p.Phe2930Val) rs751893253
NM_001378454.1(ALMS1):c.8804C>T (p.Ala2935Val)
NM_001378454.1(ALMS1):c.8816A>G (p.Asp2939Gly) rs886056313
NM_001378454.1(ALMS1):c.8817T>A (p.Asp2939Glu)
NM_001378454.1(ALMS1):c.8822A>G (p.Gln2941Arg)
NM_001378454.1(ALMS1):c.8824A>G (p.Met2942Val) rs2103893441
NM_001378454.1(ALMS1):c.8833A>G (p.Asn2945Asp) rs1330910084
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg) rs574785830
NM_001378454.1(ALMS1):c.8840C>T (p.Ser2947Phe)
NM_001378454.1(ALMS1):c.8861A>T (p.Asp2954Val) rs751940353
NM_001378454.1(ALMS1):c.8862T>G (p.Asp2954Glu)
NM_001378454.1(ALMS1):c.8884T>C (p.Ser2962Pro)
NM_001378454.1(ALMS1):c.8890A>C (p.Ile2964Leu) rs529506570
NM_001378454.1(ALMS1):c.8894C>G (p.Ser2965Cys) rs2103893808
NM_001378454.1(ALMS1):c.8902C>G (p.Gln2968Glu) rs758433515
NM_001378454.1(ALMS1):c.8910A>C (p.Gln2970His) rs2103893881
NM_001378454.1(ALMS1):c.8910A>G (p.Gln2970=)
NM_001378454.1(ALMS1):c.8911A>G (p.Ser2971Gly) rs746825059
NM_001378454.1(ALMS1):c.8934C>A (p.Asp2978Glu)
NM_001378454.1(ALMS1):c.893A>G (p.His298Arg)
NM_001378454.1(ALMS1):c.8950C>T (p.His2984Tyr)
NM_001378454.1(ALMS1):c.8951A>G (p.His2984Arg)
NM_001378454.1(ALMS1):c.8957C>A (p.Pro2986His) rs1022866808
NM_001378454.1(ALMS1):c.8957C>T (p.Pro2986Leu) rs1022866808
NM_001378454.1(ALMS1):c.8959C>G (p.Leu2987Val) rs952528298
NM_001378454.1(ALMS1):c.895C>G (p.Pro299Ala)
NM_001378454.1(ALMS1):c.8963C>T (p.Pro2988Leu) rs1224152145
NM_001378454.1(ALMS1):c.8965C>G (p.Gln2989Glu)
NM_001378454.1(ALMS1):c.8967A>G (p.Gln2989=)
NM_001378454.1(ALMS1):c.896C>T (p.Pro299Leu) rs199899389
NM_001378454.1(ALMS1):c.8977T>C (p.Cys2993Arg) rs2103894140
NM_001378454.1(ALMS1):c.8983G>A (p.Val2995Met) rs1553409810
NM_001378454.1(ALMS1):c.8989A>C (p.Lys2997Gln)
NM_001378454.1(ALMS1):c.8990A>C (p.Lys2997Thr)
NM_001378454.1(ALMS1):c.8992AAT[1] (p.Asn2999del) rs1553409817
NM_001378454.1(ALMS1):c.9004A>C (p.Lys3002Gln)
NM_001378454.1(ALMS1):c.9006G>C (p.Lys3002Asn) rs753980616
NM_001378454.1(ALMS1):c.9008C>T (p.Pro3003Leu) rs755044727
NM_001378454.1(ALMS1):c.9009T>G (p.Pro3003=)
NM_001378454.1(ALMS1):c.9010A>G (p.Lys3004Glu)
NM_001378454.1(ALMS1):c.9012A>G (p.Lys3004=)
NM_001378454.1(ALMS1):c.9016C>T (p.His3006Tyr) rs779131632
NM_001378454.1(ALMS1):c.901A>G (p.Ile301Val) rs534913971
NM_001378454.1(ALMS1):c.9032A>G (p.Asn3011Ser) rs1672972439
NM_001378454.1(ALMS1):c.9049A>G (p.Asn3017Asp) rs1572970420
NM_001378454.1(ALMS1):c.9050A>T (p.Asn3017Ile)
NM_001378454.1(ALMS1):c.9053C>G (p.Thr3018Ser) rs2103894447
NM_001378454.1(ALMS1):c.9062C>G (p.Ser3021Cys)
NM_001378454.1(ALMS1):c.9078T>C (p.Asn3026=) rs886056314
NM_001378454.1(ALMS1):c.908G>A (p.Ser303Asn)
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.9116C>T (p.Ser3039Leu) rs1672974629
NM_001378454.1(ALMS1):c.9121A>G (p.Arg3041Gly) rs757177003
NM_001378454.1(ALMS1):c.9125A>C (p.Lys3042Thr)
NM_001378454.1(ALMS1):c.9127G>A (p.Ala3043Thr) rs373870241
NM_001378454.1(ALMS1):c.9133T>C (p.Ser3045Pro) rs1300179474
NM_001378454.1(ALMS1):c.9134C>G (p.Ser3045Cys)
NM_001378454.1(ALMS1):c.9136T>C (p.Cys3046Arg)
NM_001378454.1(ALMS1):c.9139G>A (p.Val3047Ile)
NM_001378454.1(ALMS1):c.9140T>G (p.Val3047Gly)
NM_001378454.1(ALMS1):c.9149C>A (p.Thr3050Asn) rs2103894928
NM_001378454.1(ALMS1):c.9149C>G (p.Thr3050Ser)
NM_001378454.1(ALMS1):c.9154T>G (p.Cys3052Gly) rs1672975660
NM_001378454.1(ALMS1):c.9155G>C (p.Cys3052Ser)
NM_001378454.1(ALMS1):c.9157C>G (p.Pro3053Ala) rs1672976080
NM_001378454.1(ALMS1):c.9158C>T (p.Pro3053Leu) rs768273806
NM_001378454.1(ALMS1):c.9160A>G (p.Lys3054Glu)
NM_001378454.1(ALMS1):c.9170_9190dup (p.Ser3057_Thr3063dup) rs1455775922
NM_001378454.1(ALMS1):c.9185G>A (p.Gly3062Glu)
NM_001378454.1(ALMS1):c.9194A>C (p.Asp3065Ala)
NM_001378454.1(ALMS1):c.91GCG[3] (p.Ala34_Ala35del) rs746896173
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup) rs746896173
NM_001378454.1(ALMS1):c.9205C>T (p.His3069Tyr)
NM_001378454.1(ALMS1):c.920G>A (p.Gly307Glu) rs2103714961
NM_001378454.1(ALMS1):c.9224C>T (p.Ser3075Phe) rs886056315
NM_001378454.1(ALMS1):c.9235A>G (p.Met3079Val)
NM_001378454.1(ALMS1):c.9242G>T (p.Ser3081Ile) rs750425368
NM_001378454.1(ALMS1):c.925C>G (p.Gln309Glu) rs1558639213
NM_001378454.1(ALMS1):c.9262C>T (p.His3088Tyr) rs1672978412
NM_001378454.1(ALMS1):c.9278G>T (p.Arg3093Ile) rs1320008798
NM_001378454.1(ALMS1):c.9292A>G (p.Thr3098Ala) rs1280854716
NM_001378454.1(ALMS1):c.9293C>A (p.Thr3098Asn) rs1553409866
NM_001378454.1(ALMS1):c.9320T>A (p.Val3107Glu)
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.9342A>C (p.Leu3114Phe) rs759935236
NM_001378454.1(ALMS1):c.9353G>A (p.Gly3118Glu) rs1672980678
NM_001378454.1(ALMS1):c.9367C>A (p.Leu3123Met) rs751613156
NM_001378454.1(ALMS1):c.9371A>G (p.Asp3124Gly)
NM_001378454.1(ALMS1):c.9377A>G (p.Gln3126Arg) rs1553409872
NM_001378454.1(ALMS1):c.9380T>C (p.Val3127Ala) rs2103895825
NM_001378454.1(ALMS1):c.9382G>T (p.Val3128Leu) rs764937531
NM_001378454.1(ALMS1):c.9389C>T (p.Pro3130Leu)
NM_001378454.1(ALMS1):c.9394C>T (p.Leu3132Phe)
NM_001378454.1(ALMS1):c.9398C>G (p.Pro3133Arg)
NM_001378454.1(ALMS1):c.9401A>G (p.Asp3134Gly)
NM_001378454.1(ALMS1):c.9409A>G (p.Thr3137Ala)
NM_001378454.1(ALMS1):c.9410C>G (p.Thr3137Ser) rs775701628
NM_001378454.1(ALMS1):c.9423C>G (p.Asp3141Glu) rs1486652095
NM_001378454.1(ALMS1):c.9433A>G (p.Ile3145Val) rs767987000
NM_001378454.1(ALMS1):c.9433A>T (p.Ile3145Leu) rs767987000
NM_001378454.1(ALMS1):c.9484A>G (p.Ile3162Val)
NM_001378454.1(ALMS1):c.9490G>A (p.Asp3164Asn) rs2103896409
NM_001378454.1(ALMS1):c.9499G>A (p.Gly3167Arg) rs746440819
NM_001378454.1(ALMS1):c.94G>A (p.Ala32Thr)
NM_001378454.1(ALMS1):c.950A>G (p.Gln317Arg)
NM_001378454.1(ALMS1):c.9511C>G (p.Pro3171Ala)
NM_001378454.1(ALMS1):c.9524C>T (p.Pro3175Leu)
NM_001378454.1(ALMS1):c.9538C>A (p.Arg3180=) rs563393715
NM_001378454.1(ALMS1):c.9539+11T>C
NM_001378454.1(ALMS1):c.9540-15C>A rs780375594
NM_001378454.1(ALMS1):c.9540-7dup rs750386293
NM_001378454.1(ALMS1):c.9547_9549del (p.Glu3183del) rs1553412739
NM_001378454.1(ALMS1):c.9554T>C (p.Met3185Thr) rs2103961851
NM_001378454.1(ALMS1):c.9555G>A (p.Met3185Ile)
NM_001378454.1(ALMS1):c.9566T>C (p.Leu3189Pro)
NM_001378454.1(ALMS1):c.956A>G (p.Asn319Ser)
NM_001378454.1(ALMS1):c.9578C>T (p.Ser3193Phe)
NM_001378454.1(ALMS1):c.9584A>C (p.Lys3195Thr)
NM_001378454.1(ALMS1):c.9598G>T (p.Ala3200Ser)
NM_001378454.1(ALMS1):c.9605C>T (p.Thr3202Ile)
NM_001378454.1(ALMS1):c.9613ACA[1] (p.Thr3206del) rs762803723
NM_001378454.1(ALMS1):c.9614C>G (p.Thr3205Arg)
NM_001378454.1(ALMS1):c.9616A>G (p.Thr3206Ala) rs878853092
NM_001378454.1(ALMS1):c.9629A>G (p.Glu3210Gly)
NM_001378454.1(ALMS1):c.9633G>T (p.Lys3211Asn) rs373013570
NM_001378454.1(ALMS1):c.9654T>G (p.Ile3218Met)
NM_001378454.1(ALMS1):c.9658A>G (p.Ile3220Val) rs760370290
NM_001378454.1(ALMS1):c.9659T>C (p.Ile3220Thr)
NM_001378454.1(ALMS1):c.9662A>G (p.Asn3221Ser) rs1673639492
NM_001378454.1(ALMS1):c.9673C>G (p.Arg3225Gly) rs200215551
NM_001378454.1(ALMS1):c.9673C>T (p.Arg3225Cys) rs200215551
NM_001378454.1(ALMS1):c.9677G>A (p.Gly3226Glu) rs1673640308
NM_001378454.1(ALMS1):c.9684A>C (p.Glu3228Asp)
NM_001378454.1(ALMS1):c.968C>G (p.Thr323Ser)
NM_001378454.1(ALMS1):c.9691G>A (p.Glu3231Lys)
NM_001378454.1(ALMS1):c.9697G>C (p.Gly3233Arg) rs757474886
NM_001378454.1(ALMS1):c.9700A>G (p.Asn3234Asp) rs1673641556
NM_001378454.1(ALMS1):c.9709C>T (p.Leu3237=)
NM_001378454.1(ALMS1):c.970A>G (p.Ile324Val)
NM_001378454.1(ALMS1):c.9721C>A (p.Pro3241Thr) rs746680944
NM_001378454.1(ALMS1):c.9738ATC[1] (p.Ser3249del)
NM_001378454.1(ALMS1):c.973T>C (p.Ser325Pro)
NM_001378454.1(ALMS1):c.9742T>C (p.Ser3248Pro)
NM_001378454.1(ALMS1):c.9743C>G (p.Ser3248Cys)
NM_001378454.1(ALMS1):c.9748_9749insCTC (p.Val3250delinsAlaLeu)
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.976T>C (p.Ser326Pro)
NM_001378454.1(ALMS1):c.9772G>T (p.Gly3258Cys) rs769100528
NM_001378454.1(ALMS1):c.9773G>A (p.Gly3258Asp)
NM_001378454.1(ALMS1):c.9778G>A (p.Asp3260Asn)
NM_001378454.1(ALMS1):c.9779A>C (p.Asp3260Ala) rs745518051
NM_001378454.1(ALMS1):c.9781+5G>C rs1553412803
NM_001378454.1(ALMS1):c.9782-11dup rs1553414055
NM_001378454.1(ALMS1):c.9782-6C>T rs1414733616
NM_001378454.1(ALMS1):c.9782-8C>T rs1553414061
NM_001378454.1(ALMS1):c.9782G>A (p.Gly3261Asp) rs2103991983
NM_001378454.1(ALMS1):c.9785delinsGGCC (p.Gln3262delinsArgPro)
NM_001378454.1(ALMS1):c.9806A>C (p.Lys3269Thr)
NM_001378454.1(ALMS1):c.9809C>T (p.Pro3270Leu) rs551032553
NM_001378454.1(ALMS1):c.9814G>A (p.Gly3272Ser) rs1673993273
NM_001378454.1(ALMS1):c.9823A>G (p.Lys3275Glu)
NM_001378454.1(ALMS1):c.9826A>G (p.Met3276Val)
NM_001378454.1(ALMS1):c.9827T>A (p.Met3276Lys) rs1673993582
NM_001378454.1(ALMS1):c.9860C>T (p.Pro3287Leu)
NM_001378454.1(ALMS1):c.9875A>C (p.Lys3292Thr) rs959966297
NM_001378454.1(ALMS1):c.9889G>A (p.Val3297Ile)
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.9911C>A (p.Ser3304Tyr)
NM_001378454.1(ALMS1):c.9911C>G (p.Ser3304Cys) rs2104034683
NM_001378454.1(ALMS1):c.9917A>G (p.Asp3306Gly) rs746138259
NM_001378454.1(ALMS1):c.9917A>T (p.Asp3306Val)
NM_001378454.1(ALMS1):c.991A>G (p.Lys331Glu) rs2103715291
NM_001378454.1(ALMS1):c.9922A>G (p.Ile3308Val)
NM_001378454.1(ALMS1):c.9932A>C (p.Asp3311Ala) rs1553416202
NM_001378454.1(ALMS1):c.993A>C (p.Lys331Asn) rs1671344444
NM_001378454.1(ALMS1):c.9946G>A (p.Val3316Met)
NM_001378454.1(ALMS1):c.9962A>T (p.Asp3321Val)
NM_001378454.1(ALMS1):c.9968A>G (p.Asp3323Gly) rs1573013147
NM_001378454.1(ALMS1):c.9976G>A (p.Ala3326Thr) rs201213079
NM_001378454.1(ALMS1):c.9980C>T (p.Thr3327Ile)
NM_015120.4(ALMS1):c.-107G>A rs886056292
NM_015120.4(ALMS1):c.-39del rs764473588
NM_015120.4(ALMS1):c.-48C>T rs543687863
NM_015120.4(ALMS1):c.-78A>G rs571728800
NM_015120.4(ALMS1):c.-91A>G rs1670500821
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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