ClinVar Miner

List of variants in gene ALMS1 reported by Invitae

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Gene type:
ClinVar version:
Total variants: 4883
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.2015T>G (p.Val672Gly) rs2037814 0.87820
NM_001378454.1(ALMS1):c.764+20T>A rs1881246 0.49506
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901 0.49457
NM_001378454.1(ALMS1):c.6336T>A (p.Ser2112Arg) rs6724782 0.40522
NM_001378454.1(ALMS1):c.5626A>G (p.Ile1876Val) rs6546838 0.40153
NM_001378454.1(ALMS1):c.8481G>T (p.Arg2827Ser) rs2056486 0.39967
NM_001378454.1(ALMS1):c.8570A>G (p.Asn2857Ser) rs10193972 0.39950
NM_001378454.1(ALMS1):c.4244G>C (p.Gly1415Ala) rs6546837 0.39736
NM_001378454.1(ALMS1):c.4179A>G (p.Gln1393=) rs6546836 0.38173
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro) rs6546839 0.38002
NM_001378454.1(ALMS1):c.9561C>T (p.Thr3187=) rs11884776 0.30410
NM_001378454.1(ALMS1):c.6212T>C (p.Ile2071Thr) rs10496192 0.13807
NM_001378454.1(ALMS1):c.7724G>A (p.Ser2575Asn) rs3820700 0.13432
NM_001378454.1(ALMS1):c.8017G>C (p.Asp2673His) rs2017116 0.13007
NM_001378454.1(ALMS1):c.3894A>G (p.Gln1298=) rs112034360 0.06109
NM_001378454.1(ALMS1):c.9782-9C>T rs10199680 0.03656
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293 0.02293
NM_001378454.1(ALMS1):c.5786G>A (p.Arg1929Gln) rs17009061 0.02260
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn) rs28730853 0.02251
NM_001378454.1(ALMS1):c.10209T>A (p.Thr3403=) rs34617744 0.02246
NM_001378454.1(ALMS1):c.9907+20C>T rs74730457 0.02147
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702 0.02105
NM_001378454.1(ALMS1):c.11523G>A (p.Glu3841=) rs35760114 0.02099
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108 0.01785
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195 0.01772
NM_001378454.1(ALMS1):c.5169A>G (p.Gln1723=) rs75434052 0.01769
NM_001378454.1(ALMS1):c.10335C>T (p.Pro3445=) rs78108069 0.01749
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_001378454.1(ALMS1):c.2319G>A (p.Leu773=) rs28730851 0.01669
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187 0.01638
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849 0.01527
NM_001378454.1(ALMS1):c.1899A>G (p.Gln633=) rs116033693 0.01292
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser) rs77555300 0.01077
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319 0.01071
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=) rs62151609 0.00915
NM_001378454.1(ALMS1):c.2661A>G (p.Val887=) rs76266696 0.00818
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203 0.00814
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_001378454.1(ALMS1):c.12362+18A>T rs535484933 0.00525
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly) rs28730855 0.00515
NM_001378454.1(ALMS1):c.11872+18G>A rs139647347 0.00482
NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=) rs143885319 0.00467
NM_001378454.1(ALMS1):c.8742A>G (p.Val2914=) rs142611294 0.00466
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963 0.00429
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370 0.00429
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_001378454.1(ALMS1):c.4605A>G (p.Gln1535=) rs144720929 0.00412
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val) rs7587103 0.00394
NM_001378454.1(ALMS1):c.1182T>C (p.Tyr394=) rs139512700 0.00361
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524 0.00310
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=) rs28730858 0.00297
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00296
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_001378454.1(ALMS1):c.2658A>G (p.Lys886=) rs80133984 0.00262
NM_001378454.1(ALMS1):c.2730C>T (p.His910=) rs189923349 0.00245
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=) rs201446579 0.00245
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp) rs201074268 0.00204
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794 0.00163
NM_001378454.1(ALMS1):c.11601C>T (p.Phe3867=) rs80009262 0.00162
NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser) rs142022233 0.00158
NM_001378454.1(ALMS1):c.10079-11C>T rs368250605 0.00151
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_001378454.1(ALMS1):c.8274A>G (p.Gln2758=) rs181226362 0.00143
NM_001378454.1(ALMS1):c.3732G>A (p.Lys1244=) rs140670994 0.00138
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=) rs147831309 0.00121
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=) rs183390773 0.00119
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=) rs45445398 0.00114
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser) rs189032342 0.00097
NM_001378454.1(ALMS1):c.8546G>A (p.Arg2849Lys) rs200009686 0.00093
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=) rs200459890 0.00080
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser) rs199874928 0.00078
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly) rs17848880 0.00077
NM_001378454.1(ALMS1):c.8919G>A (p.Ala2973=) rs116854981 0.00076
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263 0.00071
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys) rs201816596 0.00068
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799 0.00066
NM_001378454.1(ALMS1):c.3305A>C (p.Lys1102Thr) rs185586839 0.00066
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=) rs200491758 0.00066
NM_001378454.1(ALMS1):c.3942A>C (p.Ser1314=) rs186449817 0.00065
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.11223G>A (p.Glu3741=) rs28730859 0.00061
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro) rs202227966 0.00058
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln) rs201673771 0.00058
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809 0.00057
NM_001378454.1(ALMS1):c.8942A>G (p.Asn2981Ser) rs200390821 0.00057
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys) rs201252375 0.00053
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala) rs200467041 0.00051
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala) rs200054604 0.00048
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser) rs199917289 0.00045
NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp) rs201874722 0.00044
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile) rs200529564 0.00042
NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=) rs35902379 0.00041
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.3307C>G (p.Pro1103Ala) rs200257398 0.00038
NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=) rs189914793 0.00037
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.7820C>G (p.Ala2607Gly) rs140223281 0.00034
NM_001378454.1(ALMS1):c.9861A>G (p.Pro3287=) rs114687298 0.00034
NM_001378454.1(ALMS1):c.6950T>C (p.Leu2317Pro) rs185469456 0.00033
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly) rs184779459 0.00032
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile) rs373211307 0.00032
NM_001378454.1(ALMS1):c.1338+19A>G rs145633676 0.00031
NM_001378454.1(ALMS1):c.1161T>C (p.His387=) rs191091347 0.00030
NM_001378454.1(ALMS1):c.9617C>T (p.Thr3206Ile) rs201624771 0.00029
NM_001378454.1(ALMS1):c.9777A>C (p.Thr3259=) rs183325464 0.00029
NM_001378454.1(ALMS1):c.9781+19del rs751238172 0.00029
NM_001378454.1(ALMS1):c.861C>T (p.Asp287=) rs377281121 0.00028
NM_001378454.1(ALMS1):c.10086A>G (p.Ser3362=) rs747033366 0.00027
NM_001378454.1(ALMS1):c.11626A>G (p.Asn3876Asp) rs377130177 0.00026
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr) rs369682692 0.00026
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro) rs201213079 0.00026
NM_001378454.1(ALMS1):c.8765T>C (p.Ile2922Thr) rs201738475 0.00024
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=) rs371329585 0.00023
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp) rs374663067 0.00022
NM_001378454.1(ALMS1):c.2536G>A (p.Gly846Arg) rs201154998 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.57_58del (p.Glu20fs) rs767882166 0.00022
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln) rs199615641 0.00022
NM_001378454.1(ALMS1):c.11772T>C (p.Asp3924=) rs201924342 0.00021
NM_001378454.1(ALMS1):c.12362+17_12362+18del rs768207589 0.00021
NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu) rs766187468 0.00021
NM_001378454.1(ALMS1):c.3867T>C (p.Tyr1289=) rs369314182 0.00021
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=) rs201478438 0.00021
NM_001378454.1(ALMS1):c.822T>C (p.Ser274=) rs145009331 0.00021
NM_001378454.1(ALMS1):c.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.11411G>C (p.Arg3804Thr) rs201028172 0.00019
NM_001378454.1(ALMS1):c.11610A>G (p.Ser3870=) rs188172095 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.8779C>A (p.Arg2927=) rs376244626 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.9741A>G (p.Ser3247=) rs370844317 0.00017
NM_001378454.1(ALMS1):c.11328C>T (p.His3776=) rs45596541 0.00016
NM_001378454.1(ALMS1):c.11379T>C (p.Ala3793=) rs377090880 0.00016
NM_001378454.1(ALMS1):c.4149A>G (p.Gln1383=) rs370508895 0.00016
NM_001378454.1(ALMS1):c.471T>C (p.Cys157=) rs367648094 0.00016
NM_001378454.1(ALMS1):c.3945G>A (p.Ala1315=) rs201474138 0.00015
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys) rs200293447 0.00015
NM_001378454.1(ALMS1):c.6145T>A (p.Ser2049Thr) rs17848882 0.00015
NM_001378454.1(ALMS1):c.6812A>G (p.Asn2271Ser) rs111659663 0.00015
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu) rs199604280 0.00015
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val) rs202228570 0.00015
NM_001378454.1(ALMS1):c.10533G>T (p.Trp3511Cys) rs761712682 0.00014
NM_001378454.1(ALMS1):c.331C>G (p.Pro111Ala) rs368354870 0.00014
NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg) rs371516347 0.00014
NM_001378454.1(ALMS1):c.4259G>T (p.Gly1420Val) rs1445492577 0.00014
NM_001378454.1(ALMS1):c.5117C>T (p.Ser1706Leu) rs1187000436 0.00014
NM_001378454.1(ALMS1):c.5466T>A (p.His1822Gln) rs201677365 0.00014
NM_001378454.1(ALMS1):c.9633G>A (p.Lys3211=) rs373013570 0.00014
NM_001378454.1(ALMS1):c.10218C>T (p.Ser3406=) rs754938453 0.00013
NM_001378454.1(ALMS1):c.10651A>G (p.Asn3551Asp) rs200992340 0.00013
NM_001378454.1(ALMS1):c.11213G>A (p.Arg3738Gln) rs200378498 0.00013
NM_001378454.1(ALMS1):c.11868T>C (p.His3956=) rs370489767 0.00013
NM_001378454.1(ALMS1):c.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.646+15T>G rs200821435 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_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.1977G>A (p.Thr659=) rs201316401 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.450+20C>T rs201559095 0.00012
NM_001378454.1(ALMS1):c.109G>C (p.Val37Leu) rs774784126 0.00011
NM_001378454.1(ALMS1):c.1701A>G (p.Thr567=) rs184736482 0.00011
NM_001378454.1(ALMS1):c.1976C>T (p.Thr659Met) rs199682595 0.00011
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu) rs187132771 0.00011
NM_001378454.1(ALMS1):c.3936T>C (p.Asn1312=) rs774630940 0.00011
NM_001378454.1(ALMS1):c.4886G>A (p.Arg1629Gln) rs142917664 0.00011
NM_001378454.1(ALMS1):c.5347C>T (p.Leu1783=) rs562434013 0.00011
NM_001378454.1(ALMS1):c.5842A>G (p.Ser1948Gly) rs367728446 0.00011
NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg) rs150331660 0.00011
NM_001378454.1(ALMS1):c.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.6537C>T (p.Thr2179=) rs371511963 0.00010
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=) rs367862140 0.00010
NM_001378454.1(ALMS1):c.9600A>C (p.Ala3200=) rs113808259 0.00010
NM_001378454.1(ALMS1):c.1061C>T (p.Thr354Ile) rs370726988 0.00009
NM_001378454.1(ALMS1):c.10866A>G (p.Glu3622=) rs377601961 0.00009
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile) rs549757247 0.00009
NM_001378454.1(ALMS1):c.11867A>G (p.His3956Arg) rs553786370 0.00009
NM_001378454.1(ALMS1):c.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.5982G>A (p.Glu1994=) rs186849322 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.7140A>G (p.Gln2380=) rs375593700 0.00008
NM_001378454.1(ALMS1):c.8349A>G (p.Lys2783=) rs543502603 0.00008
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.9908-12G>A rs376627151 0.00008
NM_001378454.1(ALMS1):c.11265C>T (p.Ser3755=) rs145984939 0.00007
NM_001378454.1(ALMS1):c.11748G>A (p.Glu3916=) rs373364340 0.00007
NM_001378454.1(ALMS1):c.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.2493C>T (p.Pro831=) rs561060460 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.6615A>T (p.Leu2205=) rs375011895 0.00007
NM_001378454.1(ALMS1):c.6840T>G (p.Pro2280=) rs45580837 0.00007
NM_001378454.1(ALMS1):c.8730T>C (p.His2910=) rs374693631 0.00007
NM_001378454.1(ALMS1):c.9321A>G (p.Val3107=) rs371108940 0.00007
NM_001378454.1(ALMS1):c.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.10494T>C (p.His3498=) rs769856570 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.11872+7T>A rs763235048 0.00006
NM_001378454.1(ALMS1):c.12330C>G (p.Ile4110Met) rs375524122 0.00006
NM_001378454.1(ALMS1):c.1237+9C>G rs201471551 0.00006
NM_001378454.1(ALMS1):c.12389A>G (p.Gln4130Arg) rs371587051 0.00006
NM_001378454.1(ALMS1):c.1470A>G (p.Gln490=) rs769982352 0.00006
NM_001378454.1(ALMS1):c.1548C>G (p.Asp516Glu) rs202002052 0.00006
NM_001378454.1(ALMS1):c.1557G>A (p.Gln519=) rs764869245 0.00006
NM_001378454.1(ALMS1):c.168C>T (p.Ser56=) rs748955296 0.00006
NM_001378454.1(ALMS1):c.1834A>C (p.Thr612Pro) rs775286973 0.00006
NM_001378454.1(ALMS1):c.2570C>T (p.Ser857Phe) rs538743256 0.00006
NM_001378454.1(ALMS1):c.279C>T (p.Pro93=) rs770203539 0.00006
NM_001378454.1(ALMS1):c.3038A>G (p.Tyr1013Cys) rs371893544 0.00006
NM_001378454.1(ALMS1):c.3096C>A (p.Gly1032=) rs368659119 0.00006
NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His) rs181507134 0.00006
NM_001378454.1(ALMS1):c.3399G>A (p.Lys1133=) rs376683428 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.4341T>C (p.His1447=) rs770081169 0.00006
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr) rs373638043 0.00006
NM_001378454.1(ALMS1):c.4731G>A (p.Pro1577=) rs747216050 0.00006
NM_001378454.1(ALMS1):c.567T>C (p.Ser189=) rs754250279 0.00006
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys) rs370398704 0.00006
NM_001378454.1(ALMS1):c.5835G>A (p.Glu1945=) rs529600949 0.00006
NM_001378454.1(ALMS1):c.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.7719A>G (p.Val2573=) rs561565809 0.00006
NM_001378454.1(ALMS1):c.7764G>A (p.Arg2588=) rs565248215 0.00006
NM_001378454.1(ALMS1):c.7846C>T (p.Arg2616Trp) rs145383239 0.00006
NM_001378454.1(ALMS1):c.7976C>G (p.Pro2659Arg) rs537509954 0.00006
NM_001378454.1(ALMS1):c.8168C>A (p.Ser2723Tyr) rs368409205 0.00006
NM_001378454.1(ALMS1):c.9495C>T (p.Phe3165=) rs45607436 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.1710A>C (p.Val570=) rs201095989 0.00005
NM_001378454.1(ALMS1):c.2629A>G (p.Asn877Asp) rs776351580 0.00005
NM_001378454.1(ALMS1):c.2874C>T (p.Ser958=) rs541122374 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.432G>A (p.Arg144=) rs772143925 0.00005
NM_001378454.1(ALMS1):c.4483C>G (p.Leu1495Val) rs373213201 0.00005
NM_001378454.1(ALMS1):c.4857A>G (p.Ala1619=) rs367772965 0.00005
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala) rs770424780 0.00005
NM_001378454.1(ALMS1):c.5074C>T (p.Pro1692Ser) rs764039432 0.00005
NM_001378454.1(ALMS1):c.5447A>G (p.Tyr1816Cys) rs780110659 0.00005
NM_001378454.1(ALMS1):c.558C>T (p.Asp186=) rs370228166 0.00005
NM_001378454.1(ALMS1):c.60G>A (p.Glu20=) rs183407241 0.00005
NM_001378454.1(ALMS1):c.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.8811T>C (p.Tyr2937=) rs541559170 0.00005
NM_001378454.1(ALMS1):c.8918C>T (p.Ala2973Val) rs202110907 0.00005
NM_001378454.1(ALMS1):c.8961T>A (p.Leu2987=) rs201937708 0.00005
NM_001378454.1(ALMS1):c.9018C>T (p.His3006=) rs376757358 0.00005
NM_001378454.1(ALMS1):c.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.10038C>T (p.Ser3346=) rs375436336 0.00004
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter) rs772624348 0.00004
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312 0.00004
NM_001378454.1(ALMS1):c.10823G>A (p.Arg3608Gln) rs752052259 0.00004
NM_001378454.1(ALMS1):c.10858A>C (p.Arg3620=) rs201598829 0.00004
NM_001378454.1(ALMS1):c.11032C>T (p.Arg3678Trp) rs766771102 0.00004
NM_001378454.1(ALMS1):c.11293A>G (p.Ile3765Val) rs758062371 0.00004
NM_001378454.1(ALMS1):c.11413C>T (p.Arg3805Ter) rs376091780 0.00004
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=) rs750087396 0.00004
NM_001378454.1(ALMS1):c.11547+16T>C rs373935106 0.00004
NM_001378454.1(ALMS1):c.11567C>T (p.Ser3856Phe) rs1414717577 0.00004
NM_001378454.1(ALMS1):c.11669-17A>G rs762591261 0.00004
NM_001378454.1(ALMS1):c.11863T>G (p.Ser3955Ala) rs45528134 0.00004
NM_001378454.1(ALMS1):c.1238-9A>G rs372652836 0.00004
NM_001378454.1(ALMS1):c.12432A>G (p.Ser4144=) rs762630256 0.00004
NM_001378454.1(ALMS1):c.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.1432+15G>A rs376610564 0.00004
NM_001378454.1(ALMS1):c.1695T>C (p.Thr565=) rs368992526 0.00004
NM_001378454.1(ALMS1):c.1815T>G (p.Pro605=) rs983651117 0.00004
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp) rs531859344 0.00004
NM_001378454.1(ALMS1):c.1971G>T (p.Gln657His) rs753296810 0.00004
NM_001378454.1(ALMS1):c.2022C>T (p.Asp674=) rs374151754 0.00004
NM_001378454.1(ALMS1):c.2269C>T (p.Pro757Ser) rs200827630 0.00004
NM_001378454.1(ALMS1):c.2370T>G (p.Val790=) rs370372529 0.00004
NM_001378454.1(ALMS1):c.2434T>G (p.Ser812Ala) rs376991574 0.00004
NM_001378454.1(ALMS1):c.2577G>A (p.Ala859=) rs547563359 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.355C>T (p.Gln119Ter) rs751804613 0.00004
NM_001378454.1(ALMS1):c.4140T>C (p.Ser1380=) rs1362041238 0.00004
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter) rs150825781 0.00004
NM_001378454.1(ALMS1):c.4324G>T (p.Val1442Phe) rs375842278 0.00004
NM_001378454.1(ALMS1):c.435T>C (p.Gly145=) rs541827475 0.00004
NM_001378454.1(ALMS1):c.4448T>C (p.Ile1483Thr) rs370271775 0.00004
NM_001378454.1(ALMS1):c.450+11T>C rs763724672 0.00004
NM_001378454.1(ALMS1):c.451-5T>G rs774098604 0.00004
NM_001378454.1(ALMS1):c.5267C>G (p.Ser1756Cys) rs761486372 0.00004
NM_001378454.1(ALMS1):c.5355T>G (p.Val1785=) rs1420283861 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.6087T>C (p.Thr2029=) rs199967386 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.7017G>A (p.Gln2339=) rs190319211 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.7464A>G (p.Gln2488=) rs765766155 0.00004
NM_001378454.1(ALMS1):c.7525C>T (p.Arg2509Trp) rs34183407 0.00004
NM_001378454.1(ALMS1):c.7541-14T>C rs554746330 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.9173A>G (p.Lys3058Arg) rs149329669 0.00004
NM_001378454.1(ALMS1):c.9263A>G (p.His3088Arg) rs376083621 0.00004
NM_001378454.1(ALMS1):c.9381C>T (p.Val3127=) rs754743943 0.00004
NM_001378454.1(ALMS1):c.9386A>C (p.Gln3129Pro) rs372015288 0.00004
NM_001378454.1(ALMS1):c.9477A>G (p.Gln3159=) rs759377981 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.9782-19C>A rs777706370 0.00004
NM_001378454.1(ALMS1):c.9866C>T (p.Pro3289Leu) rs369660958 0.00004
NM_001378454.1(ALMS1):c.1032A>G (p.Ser344=) rs376519124 0.00003
NM_001378454.1(ALMS1):c.10389C>T (p.Ser3463=) rs760299487 0.00003
NM_001378454.1(ALMS1):c.10985A>G (p.Glu3662Gly) rs377418428 0.00003
NM_001378454.1(ALMS1):c.11283C>T (p.Val3761=) rs183916999 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.11669-2A>G rs952110960 0.00003
NM_001378454.1(ALMS1):c.11798G>A (p.Arg3933His) rs45576434 0.00003
NM_001378454.1(ALMS1):c.11854A>G (p.Lys3952Glu) rs771282076 0.00003
NM_001378454.1(ALMS1):c.12350A>G (p.Gln4117Arg) rs200038446 0.00003
NM_001378454.1(ALMS1):c.12354G>A (p.Arg4118=) rs546745992 0.00003
NM_001378454.1(ALMS1):c.12363-18A>C rs199968770 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.1773C>T (p.Asp591=) rs369744185 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.2122A>G (p.Thr708Ala) rs571389435 0.00003
NM_001378454.1(ALMS1):c.2128A>G (p.Thr710Ala) rs367641723 0.00003
NM_001378454.1(ALMS1):c.2134C>G (p.Leu712Val) rs371524359 0.00003
NM_001378454.1(ALMS1):c.2196C>T (p.Asp732=) rs754758293 0.00003
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter) rs758195453 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.2775T>C (p.Phe925=) rs958251140 0.00003
NM_001378454.1(ALMS1):c.2922A>T (p.Leu974=) rs199769789 0.00003
NM_001378454.1(ALMS1):c.3076G>C (p.Ala1026Pro) rs201451396 0.00003
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala) rs201884768 0.00003
NM_001378454.1(ALMS1):c.3420C>T (p.Thr1140=) rs1300610392 0.00003
NM_001378454.1(ALMS1):c.3432C>T (p.Tyr1144=) rs768929630 0.00003
NM_001378454.1(ALMS1):c.3768T>C (p.Asn1256=) rs1273618684 0.00003
NM_001378454.1(ALMS1):c.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.451-4C>G rs761589577 0.00003
NM_001378454.1(ALMS1):c.4761T>C (p.Asp1587=) rs747858041 0.00003
NM_001378454.1(ALMS1):c.4795A>G (p.Ile1599Val) rs377671796 0.00003
NM_001378454.1(ALMS1):c.4872C>T (p.Pro1624=) rs372692493 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.4938T>G (p.Ala1646=) rs767547246 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.6303G>A (p.Ser2101=) rs555344566 0.00003
NM_001378454.1(ALMS1):c.6379C>T (p.Pro2127Ser) rs771800459 0.00003
NM_001378454.1(ALMS1):c.646+17T>C rs763246949 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.75A>G (p.Glu25=) rs13009043 0.00003
NM_001378454.1(ALMS1):c.7675-19G>A rs1399037677 0.00003
NM_001378454.1(ALMS1):c.7892C>T (p.Ala2631Val) rs1027248513 0.00003
NM_001378454.1(ALMS1):c.7983A>T (p.Glu2661Asp) rs1213279792 0.00003
NM_001378454.1(ALMS1):c.8016C>T (p.Phe2672=) rs762352626 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.8577G>A (p.Ser2859=) rs199850691 0.00003
NM_001378454.1(ALMS1):c.8890A>G (p.Ile2964Val) rs529506570 0.00003
NM_001378454.1(ALMS1):c.8920C>T (p.Pro2974Ser) rs1043429291 0.00003
NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser) rs553507775 0.00003
NM_001378454.1(ALMS1):c.9565C>T (p.Leu3189Phe) rs376367125 0.00003
NM_001378454.1(ALMS1):c.9888C>T (p.Thr3296=) rs372451785 0.00003
NM_001378454.1(ALMS1):c.10020G>A (p.Arg3340=) rs746166271 0.00002
NM_001378454.1(ALMS1):c.10023A>G (p.Val3341=) rs770072519 0.00002
NM_001378454.1(ALMS1):c.10081G>T (p.Ala3361Ser) rs770904502 0.00002
NM_001378454.1(ALMS1):c.10214-19G>A rs763103896 0.00002
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=) rs1464934308 0.00002
NM_001378454.1(ALMS1):c.10261C>A (p.Pro3421Thr) rs763306448 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.11499A>G (p.Thr3833=) rs762899971 0.00002
NM_001378454.1(ALMS1):c.1153A>G (p.Ser385Gly) rs761174114 0.00002
NM_001378454.1(ALMS1):c.11550A>G (p.Val3850=) rs45630561 0.00002
NM_001378454.1(ALMS1):c.11574C>T (p.Asp3858=) rs561636004 0.00002
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr) rs45630562 0.00002
NM_001378454.1(ALMS1):c.11667del (p.Gly3890fs) rs1553421496 0.00002
NM_001378454.1(ALMS1):c.11668+17A>G rs201109126 0.00002
NM_001378454.1(ALMS1):c.11703C>T (p.His3901=) rs1221566713 0.00002
NM_001378454.1(ALMS1):c.11742C>T (p.Ser3914=) rs374909171 0.00002
NM_001378454.1(ALMS1):c.11755T>C (p.Leu3919=) rs750372739 0.00002
NM_001378454.1(ALMS1):c.120A>G (p.Val40=) rs537537228 0.00002
NM_001378454.1(ALMS1):c.12321C>T (p.Asn4107=) rs767420244 0.00002
NM_001378454.1(ALMS1):c.12363-12G>A rs749504196 0.00002
NM_001378454.1(ALMS1):c.1237+8C>A rs771449454 0.00002
NM_001378454.1(ALMS1):c.12376C>T (p.Leu4126Phe) rs746923966 0.00002
NM_001378454.1(ALMS1):c.1238-16del rs746989906 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.1338+18G>A rs369695595 0.00002
NM_001378454.1(ALMS1):c.1450G>C (p.Gly484Arg) rs1212388844 0.00002
NM_001378454.1(ALMS1):c.1566A>G (p.Val522=) rs1411790516 0.00002
NM_001378454.1(ALMS1):c.1578A>G (p.Leu526=) rs753222733 0.00002
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter) rs755760721 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.1731T>C (p.His577=) rs768761501 0.00002
NM_001378454.1(ALMS1):c.176A>T (p.His59Leu) rs772683919 0.00002
NM_001378454.1(ALMS1):c.1884T>C (p.Pro628=) rs373831151 0.00002
NM_001378454.1(ALMS1):c.1968G>A (p.Glu656=) rs1040684345 0.00002
NM_001378454.1(ALMS1):c.1969C>G (p.Gln657Glu) rs1371488235 0.00002
NM_001378454.1(ALMS1):c.2059C>T (p.His687Tyr) rs771266951 0.00002
NM_001378454.1(ALMS1):c.228C>G (p.Ala76=) rs755847221 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.2502T>C (p.Ala834=) rs761599987 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.2804C>T (p.Ser935Leu) rs1183510271 0.00002
NM_001378454.1(ALMS1):c.2817A>G (p.Val939=) rs376517753 0.00002
NM_001378454.1(ALMS1):c.2850G>A (p.Val950=) rs551541932 0.00002
NM_001378454.1(ALMS1):c.2961G>A (p.Leu987=) rs745503022 0.00002
NM_001378454.1(ALMS1):c.2997T>G (p.Pro999=) rs1427354998 0.00002
NM_001378454.1(ALMS1):c.3002G>T (p.Gly1001Val) rs773630367 0.00002
NM_001378454.1(ALMS1):c.3048G>A (p.Glu1016=) rs765275016 0.00002
NM_001378454.1(ALMS1):c.315C>T (p.Ser105=) rs754611450 0.00002
NM_001378454.1(ALMS1):c.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.3561A>G (p.Val1187=) rs777970870 0.00002
NM_001378454.1(ALMS1):c.3591A>G (p.Lys1197=) rs773852068 0.00002
NM_001378454.1(ALMS1):c.3604T>C (p.Tyr1202His) rs766931841 0.00002
NM_001378454.1(ALMS1):c.3762A>G (p.Pro1254=) rs771791019 0.00002
NM_001378454.1(ALMS1):c.387A>G (p.Gln129=) rs746391155 0.00002
NM_001378454.1(ALMS1):c.3881G>C (p.Ser1294Thr) rs373835067 0.00002
NM_001378454.1(ALMS1):c.3882C>T (p.Ser1294=) rs746658957 0.00002
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala) rs760866713 0.00002
NM_001378454.1(ALMS1):c.4131C>T (p.Thr1377=) rs759705921 0.00002
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228 0.00002
NM_001378454.1(ALMS1):c.4221C>T (p.Asn1407=) rs761902133 0.00002
NM_001378454.1(ALMS1):c.4314C>T (p.Phe1438=) rs541180403 0.00002
NM_001378454.1(ALMS1):c.4464G>A (p.Gln1488=) rs770845249 0.00002
NM_001378454.1(ALMS1):c.450+7C>A rs775200355 0.00002
NM_001378454.1(ALMS1):c.451-20T>C rs762592063 0.00002
NM_001378454.1(ALMS1):c.460T>A (p.Ser154Thr) rs767106643 0.00002
NM_001378454.1(ALMS1):c.4758A>G (p.Pro1586=) rs778600773 0.00002
NM_001378454.1(ALMS1):c.4829T>C (p.Ile1610Thr) rs757356524 0.00002
NM_001378454.1(ALMS1):c.5163C>T (p.Phe1721=) rs1222275039 0.00002
NM_001378454.1(ALMS1):c.5194A>T (p.Thr1732Ser) rs370735089 0.00002
NM_001378454.1(ALMS1):c.5532C>T (p.Asn1844=) rs369656698 0.00002
NM_001378454.1(ALMS1):c.5565G>A (p.Glu1855=) rs535259433 0.00002
NM_001378454.1(ALMS1):c.5566C>G (p.His1856Asp) rs777664567 0.00002
NM_001378454.1(ALMS1):c.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.6231C>A (p.Val2077=) rs748449043 0.00002
NM_001378454.1(ALMS1):c.6441A>G (p.Lys2147=) rs776254949 0.00002
NM_001378454.1(ALMS1):c.6444A>G (p.Pro2148=) rs1220162012 0.00002
NM_001378454.1(ALMS1):c.6498A>C (p.Leu2166=) rs778927340 0.00002
NM_001378454.1(ALMS1):c.6567C>T (p.Tyr2189=) rs368523556 0.00002
NM_001378454.1(ALMS1):c.679C>T (p.Pro227Ser) rs756201461 0.00002
NM_001378454.1(ALMS1):c.6820C>T (p.Leu2274=) rs1447282271 0.00002
NM_001378454.1(ALMS1):c.6833A>G (p.Asn2278Ser) rs767464740 0.00002
NM_001378454.1(ALMS1):c.7020G>A (p.Thr2340=) rs760756852 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.7143T>C (p.Tyr2381=) rs1241546898 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.7281G>A (p.Ser2427=) rs200684911 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.764+19A>G rs1035974697 0.00002
NM_001378454.1(ALMS1):c.765-12A>G rs200209691 0.00002
NM_001378454.1(ALMS1):c.7674+9G>T rs1046548369 0.00002
NM_001378454.1(ALMS1):c.7701A>T (p.Gly2567=) rs767409467 0.00002
NM_001378454.1(ALMS1):c.7710A>C (p.Pro2570=) rs750225944 0.00002
NM_001378454.1(ALMS1):c.78G>A (p.Glu26=) rs13009604 0.00002
NM_001378454.1(ALMS1):c.7912T>A (p.Ser2638Thr) rs548882067 0.00002
NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu) rs996036496 0.00002
NM_001378454.1(ALMS1):c.8040G>T (p.Leu2680=) rs755241265 0.00002
NM_001378454.1(ALMS1):c.8044G>T (p.Glu2682Ter) rs779187578 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.8161C>T (p.Arg2721Ter) rs193919340 0.00002
NM_001378454.1(ALMS1):c.8181C>G (p.Ser2727=) rs747669538 0.00002
NM_001378454.1(ALMS1):c.821G>A (p.Ser274Asn) rs767513098 0.00002
NM_001378454.1(ALMS1):c.8379G>A (p.Arg2793=) rs559811855 0.00002
NM_001378454.1(ALMS1):c.8410C>T (p.Arg2804Cys) rs746432199 0.00002
NM_001378454.1(ALMS1):c.8462A>G (p.His2821Arg) rs1259827695 0.00002
NM_001378454.1(ALMS1):c.8589A>G (p.Leu2863=) rs778918786 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.8928A>G (p.Val2976=) rs373374154 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.9075A>G (p.Pro3025=) rs1278648561 0.00002
NM_001378454.1(ALMS1):c.9126A>G (p.Lys3042=) rs781138734 0.00002
NM_001378454.1(ALMS1):c.9178G>T (p.Asp3060Tyr) rs547914710 0.00002
NM_001378454.1(ALMS1):c.921G>A (p.Gly307=) rs1290857231 0.00002
NM_001378454.1(ALMS1):c.9231G>A (p.Ala3077=) rs1328459312 0.00002
NM_001378454.1(ALMS1):c.9276G>A (p.Ser3092=) rs1462656920 0.00002
NM_001378454.1(ALMS1):c.9281C>T (p.Ser3094Leu) rs368970124 0.00002
NM_001378454.1(ALMS1):c.9324A>G (p.Ala3108=) rs747570402 0.00002
NM_001378454.1(ALMS1):c.9360A>G (p.Lys3120=) rs368408369 0.00002
NM_001378454.1(ALMS1):c.9708G>A (p.Lys3236=) rs574095166 0.00002
NM_001378454.1(ALMS1):c.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.9907+7T>G rs375870610 0.00002
NM_001378454.1(ALMS1):c.9907+8G>A rs369727166 0.00002
NM_001378454.1(ALMS1):c.9928C>T (p.Pro3310Ser) rs775666186 0.00002
NM_001378454.1(ALMS1):c.9995A>G (p.His3332Arg) rs777406837 0.00002
NM_001378454.1(ALMS1):c.10004G>T (p.Gly3335Val) rs1344858585 0.00001
NM_001378454.1(ALMS1):c.10011C>T (p.Tyr3337=) rs757671067 0.00001
NM_001378454.1(ALMS1):c.10059C>T (p.Pro3353=) rs1180602339 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+10T>C rs752454047 0.00001
NM_001378454.1(ALMS1):c.10078+1G>T rs765075310 0.00001
NM_001378454.1(ALMS1):c.10079-10G>A rs778996015 0.00001
NM_001378454.1(ALMS1):c.10122A>G (p.Ser3374=) rs761165541 0.00001
NM_001378454.1(ALMS1):c.10137A>G (p.Gln3379=) rs756623131 0.00001
NM_001378454.1(ALMS1):c.10148G>A (p.Ser3383Asn) rs1553416873 0.00001
NM_001378454.1(ALMS1):c.10169C>T (p.Ala3390Val) rs905527689 0.00001
NM_001378454.1(ALMS1):c.10179T>C (p.Ala3393=) rs749030025 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.10213+11T>C rs1553416883 0.00001
NM_001378454.1(ALMS1):c.10214-4G>A rs757482053 0.00001
NM_001378454.1(ALMS1):c.10214-5C>T rs751591632 0.00001
NM_001378454.1(ALMS1):c.10214A>T (p.Asp3405Val) rs781411724 0.00001
NM_001378454.1(ALMS1):c.10217C>G (p.Ser3406Cys) rs1279080725 0.00001
NM_001378454.1(ALMS1):c.10233T>G (p.Ala3411=) rs746651541 0.00001
NM_001378454.1(ALMS1):c.10251A>G (p.Gln3417=) rs770284777 0.00001
NM_001378454.1(ALMS1):c.10263A>G (p.Pro3421=) rs1446989496 0.00001
NM_001378454.1(ALMS1):c.10264G>C (p.Glu3422Gln) rs1003992652 0.00001
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly) rs746702722 0.00001
NM_001378454.1(ALMS1):c.10338G>T (p.Glu3446Asp) rs928444733 0.00001
NM_001378454.1(ALMS1):c.10357A>T (p.Lys3453Ter) rs1674604760 0.00001
NM_001378454.1(ALMS1):c.1035T>C (p.Tyr345=) rs762735674 0.00001
NM_001378454.1(ALMS1):c.10384+6G>A rs1343830351 0.00001
NM_001378454.1(ALMS1):c.10385-5T>C rs1345014390 0.00001
NM_001378454.1(ALMS1):c.10385-9C>T rs568809052 0.00001
NM_001378454.1(ALMS1):c.103G>C (p.Ala35Pro) rs955371491 0.00001
NM_001378454.1(ALMS1):c.10420C>T (p.Arg3474Cys) rs759337193 0.00001
NM_001378454.1(ALMS1):c.10425T>C (p.Ser3475=) rs767283952 0.00001
NM_001378454.1(ALMS1):c.10433G>A (p.Arg3478Lys) rs893973875 0.00001
NM_001378454.1(ALMS1):c.10440A>G (p.Ala3480=) rs375046790 0.00001
NM_001378454.1(ALMS1):c.10467C>T (p.His3489=) rs371631738 0.00001
NM_001378454.1(ALMS1):c.10476T>G (p.Ser3492Arg) rs1433521854 0.00001
NM_001378454.1(ALMS1):c.10493A>G (p.His3498Arg) rs759463622 0.00001
NM_001378454.1(ALMS1):c.10497A>G (p.Glu3499=) rs1674948697 0.00001
NM_001378454.1(ALMS1):c.10506A>G (p.Gly3502=) rs1305325242 0.00001
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter) rs1275113273 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.10545T>A (p.Phe3515Leu) rs750147146 0.00001
NM_001378454.1(ALMS1):c.10573C>T (p.His3525Tyr) rs778304579 0.00001
NM_001378454.1(ALMS1):c.10611G>A (p.Lys3537=) rs1470146152 0.00001
NM_001378454.1(ALMS1):c.10625A>G (p.Tyr3542Cys) rs761771973 0.00001
NM_001378454.1(ALMS1):c.10635A>G (p.Ile3545Met) rs760321819 0.00001
NM_001378454.1(ALMS1):c.10723G>A (p.Gly3575Arg) rs752099349 0.00001
NM_001378454.1(ALMS1):c.10738C>G (p.Pro3580Ala) rs746126446 0.00001
NM_001378454.1(ALMS1):c.10750C>T (p.Gln3584Ter) rs192823093 0.00001
NM_001378454.1(ALMS1):c.10772C>A (p.Thr3591Lys) rs773091397 0.00001
NM_001378454.1(ALMS1):c.10803G>A (p.Leu3601=) rs1246917834 0.00001
NM_001378454.1(ALMS1):c.10816C>T (p.Arg3606Trp) rs1250097723 0.00001
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter) rs1192396248 0.00001
NM_001378454.1(ALMS1):c.10854T>A (p.Gly3618=) rs1460043103 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.10933C>T (p.Gln3645Ter) rs1674967197 0.00001
NM_001378454.1(ALMS1):c.10947T>C (p.Ser3649=) rs373024720 0.00001
NM_001378454.1(ALMS1):c.10962C>T (p.Ser3654=) rs1674967989 0.00001
NM_001378454.1(ALMS1):c.10968G>C (p.Gly3656=) rs1439789927 0.00001
NM_001378454.1(ALMS1):c.1096C>G (p.Gln366Glu) rs887270267 0.00001
NM_001378454.1(ALMS1):c.10973G>A (p.Arg3658Gln) rs781344338 0.00001
NM_001378454.1(ALMS1):c.11004G>A (p.Gln3668=) rs761324500 0.00001
NM_001378454.1(ALMS1):c.11028G>A (p.Lys3676=) rs1275803711 0.00001
NM_001378454.1(ALMS1):c.1104A>G (p.Ser368=) rs1279010454 0.00001
NM_001378454.1(ALMS1):c.11064T>C (p.Asn3688=) rs758563118 0.00001
NM_001378454.1(ALMS1):c.11071G>A (p.Glu3691Lys) rs750422041 0.00001
NM_001378454.1(ALMS1):c.11073G>A (p.Glu3691=) rs1421582809 0.00001
NM_001378454.1(ALMS1):c.11104C>A (p.Arg3702=) rs747747269 0.00001
NM_001378454.1(ALMS1):c.11105G>A (p.Arg3702Gln) rs188864796 0.00001
NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs) rs398122992 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.11163G>C (p.Leu3721=) rs563578298 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.11205G>A (p.Ser3735=) rs368226507 0.00001
NM_001378454.1(ALMS1):c.11219C>T (p.Ser3740Leu) rs948097402 0.00001
NM_001378454.1(ALMS1):c.11220A>G (p.Ser3740=) rs1674977838 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.11310T>C (p.Asp3770=) rs1438099503 0.00001
NM_001378454.1(ALMS1):c.11393G>A (p.Arg3798Lys) rs1006564458 0.00001
NM_001378454.1(ALMS1):c.11397A>G (p.Val3799=) rs369063904 0.00001
NM_001378454.1(ALMS1):c.11400C>T (p.Cys3800=) rs1215015585 0.00001
NM_001378454.1(ALMS1):c.11401T>A (p.Leu3801Met) rs780494417 0.00001
NM_001378454.1(ALMS1):c.11424A>G (p.Leu3808=) rs760607996 0.00001
NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter) rs940576720 0.00001
NM_001378454.1(ALMS1):c.11457C>T (p.Tyr3819=) rs373397289 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+11A>G rs1674988694 0.00001
NM_001378454.1(ALMS1):c.11547+13A>G rs753246208 0.00001
NM_001378454.1(ALMS1):c.11547+4C>T rs753353269 0.00001
NM_001378454.1(ALMS1):c.11548-5T>C rs1239982754 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.11643C>T (p.His3881=) rs1296746698 0.00001
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs) rs760264695 0.00001
NM_001378454.1(ALMS1):c.11663A>G (p.Gln3888Arg) rs1675626491 0.00001
NM_001378454.1(ALMS1):c.11668+9T>C rs1675626765 0.00001
NM_001378454.1(ALMS1):c.11669-12C>T rs774970704 0.00001
NM_001378454.1(ALMS1):c.11669-14A>G rs768036112 0.00001
NM_001378454.1(ALMS1):c.11669-1G>A rs750737346 0.00001
NM_001378454.1(ALMS1):c.11669-1G>C rs750737346 0.00001
NM_001378454.1(ALMS1):c.11669-8C>T rs1220049600 0.00001
NM_001378454.1(ALMS1):c.11688C>T (p.Asn3896=) rs202172921 0.00001
NM_001378454.1(ALMS1):c.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.1185G>A (p.Gly395=) rs1450546722 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.11872+9C>A rs768886966 0.00001
NM_001378454.1(ALMS1):c.1188G>A (p.Gln396=) rs368655814 0.00001
NM_001378454.1(ALMS1):c.1197A>G (p.Thr399=) rs756136557 0.00001
NM_001378454.1(ALMS1):c.12299-2A>G rs759788656 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.12362+7C>A rs1257275977 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.12447C>T (p.Ala4149=) rs374020124 0.00001
NM_001378454.1(ALMS1):c.12453A>G (p.Leu4151=) rs749502767 0.00001
NM_001378454.1(ALMS1):c.12456T>C (p.Tyr4152=) rs1348620586 0.00001
NM_001378454.1(ALMS1):c.12462+10T>C rs748315200 0.00001
NM_001378454.1(ALMS1):c.12463-14C>G rs766656843 0.00001
NM_001378454.1(ALMS1):c.12463-4A>G rs755283383 0.00001
NM_001378454.1(ALMS1):c.12466G>T (p.Val4156Leu) rs779259646 0.00001
NM_001378454.1(ALMS1):c.12473A>T (p.Asn4158Ile) rs752828644 0.00001
NM_001378454.1(ALMS1):c.12483G>A (p.Leu4161=) rs756592287 0.00001
NM_001378454.1(ALMS1):c.126C>T (p.Val42=) rs766762252 0.00001
NM_001378454.1(ALMS1):c.1270A>G (p.Ile424Val) rs775981299 0.00001
NM_001378454.1(ALMS1):c.1272T>C (p.Ile424=) rs544932125 0.00001
NM_001378454.1(ALMS1):c.12G>C (p.Glu4Asp) rs1260367236 0.00001
NM_001378454.1(ALMS1):c.1302T>C (p.Val434=) rs1325950841 0.00001
NM_001378454.1(ALMS1):c.1329A>G (p.Leu443=) rs1246412833 0.00001
NM_001378454.1(ALMS1):c.1338+10A>G rs1430183145 0.00001
NM_001378454.1(ALMS1):c.1339-12G>T rs1260375872 0.00001
NM_001378454.1(ALMS1):c.1345A>G (p.Arg449Gly) rs777458464 0.00001
NM_001378454.1(ALMS1):c.1353G>A (p.Ser451=) rs370873335 0.00001
NM_001378454.1(ALMS1):c.1354G>A (p.Glu452Lys) rs1232628050 0.00001
NM_001378454.1(ALMS1):c.1368A>T (p.Ser456=) rs1275741570 0.00001
NM_001378454.1(ALMS1):c.1381T>C (p.Leu461=) rs935279576 0.00001
NM_001378454.1(ALMS1):c.1386G>A (p.Arg462=) rs749794703 0.00001
NM_001378454.1(ALMS1):c.1402G>C (p.Val468Leu) rs1409680993 0.00001
NM_001378454.1(ALMS1):c.1423T>C (p.Leu475=) rs1313456848 0.00001
NM_001378454.1(ALMS1):c.1425A>G (p.Leu475=) rs767100210 0.00001
NM_001378454.1(ALMS1):c.142G>A (p.Glu48Lys) rs751415466 0.00001
NM_001378454.1(ALMS1):c.1432+5G>A rs755613962 0.00001
NM_001378454.1(ALMS1):c.1432+7A>G rs1468328132 0.00001
NM_001378454.1(ALMS1):c.1437C>T (p.Asp479=) rs372610345 0.00001
NM_001378454.1(ALMS1):c.1449A>G (p.Gly483=) rs753352047 0.00001
NM_001378454.1(ALMS1):c.1452C>T (p.Gly484=) rs758794145 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.150G>T (p.Ala50=) rs757262099 0.00001
NM_001378454.1(ALMS1):c.1517T>C (p.Ile506Thr) rs976096963 0.00001
NM_001378454.1(ALMS1):c.1521A>C (p.Gly507=) rs760374410 0.00001
NM_001378454.1(ALMS1):c.1533C>T (p.Ser511=) rs753538515 0.00001
NM_001378454.1(ALMS1):c.1588A>G (p.Thr530Ala) rs778268073 0.00001
NM_001378454.1(ALMS1):c.159G>C (p.Glu53Asp) rs1245177160 0.00001
NM_001378454.1(ALMS1):c.1617A>G (p.Gln539=) rs1483766765 0.00001
NM_001378454.1(ALMS1):c.162G>A (p.Leu54=) rs1313030064 0.00001
NM_001378454.1(ALMS1):c.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.1653T>C (p.Thr551=) rs1280098713 0.00001
NM_001378454.1(ALMS1):c.1707A>G (p.Thr569=) rs752130351 0.00001
NM_001378454.1(ALMS1):c.1717A>G (p.Ser573Gly) rs143478466 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001378454.1(ALMS1):c.1734G>A (p.Arg578=) rs1027908105 0.00001
NM_001378454.1(ALMS1):c.173C>G (p.Ser58Cys) rs748571359 0.00001
NM_001378454.1(ALMS1):c.1758G>A (p.Gln586=) rs377037998 0.00001
NM_001378454.1(ALMS1):c.1776T>C (p.Ser592=) rs746995241 0.00001
NM_001378454.1(ALMS1):c.1809T>A (p.Ala603=) rs1558647545 0.00001
NM_001378454.1(ALMS1):c.1854C>T (p.Thr618=) rs1327400351 0.00001
NM_001378454.1(ALMS1):c.1855T>C (p.Ser619Pro) rs921968387 0.00001
NM_001378454.1(ALMS1):c.1859C>A (p.Thr620Asn) rs1447523847 0.00001
NM_001378454.1(ALMS1):c.1863C>A (p.Ser621=) rs1415449725 0.00001
NM_001378454.1(ALMS1):c.1866C>T (p.Tyr622=) rs1474922476 0.00001
NM_001378454.1(ALMS1):c.1926C>T (p.Thr642=) rs745591025 0.00001
NM_001378454.1(ALMS1):c.1927G>A (p.Glu643Lys) rs769734500 0.00001
NM_001378454.1(ALMS1):c.1962A>G (p.Pro654=) rs1572931748 0.00001
NM_001378454.1(ALMS1):c.200G>A (p.Ser67Asn) rs776932244 0.00001
NM_001378454.1(ALMS1):c.2049G>A (p.Leu683=) rs1572931934 0.00001
NM_001378454.1(ALMS1):c.2079G>C (p.Leu693=) rs1320005523 0.00001
NM_001378454.1(ALMS1):c.2082A>G (p.Lys694=) rs1221929641 0.00001
NM_001378454.1(ALMS1):c.2087C>A (p.Ser696Ter) rs1490504758 0.00001
NM_001378454.1(ALMS1):c.211G>A (p.Glu71Lys) rs757131983 0.00001
NM_001378454.1(ALMS1):c.2121G>A (p.Gly707=) rs878854997 0.00001
NM_001378454.1(ALMS1):c.2136C>T (p.Leu712=) rs747504060 0.00001
NM_001378454.1(ALMS1):c.2138C>G (p.Ser713Cys) rs771496254 0.00001
NM_001378454.1(ALMS1):c.2156G>A (p.Arg719Lys) rs923816827 0.00001
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=) rs572605877 0.00001
NM_001378454.1(ALMS1):c.2187G>A (p.Glu729=) rs536950181 0.00001
NM_001378454.1(ALMS1):c.2191G>A (p.Ala731Thr) rs1337404560 0.00001
NM_001378454.1(ALMS1):c.219C>G (p.Asp73Glu) rs905373886 0.00001
NM_001378454.1(ALMS1):c.21A>T (p.Pro7=) rs373614102 0.00001
NM_001378454.1(ALMS1):c.2236A>G (p.Thr746Ala) rs1339477380 0.00001
NM_001378454.1(ALMS1):c.2271A>G (p.Pro757=) rs770172498 0.00001
NM_001378454.1(ALMS1):c.2296C>A (p.Gln766Lys) rs377000488 0.00001
NM_001378454.1(ALMS1):c.2322C>T (p.Tyr774=) rs752503817 0.00001
NM_001378454.1(ALMS1):c.2348T>C (p.Leu783Pro) rs1671866214 0.00001
NM_001378454.1(ALMS1):c.234C>T (p.Ala78=) rs368947491 0.00001
NM_001378454.1(ALMS1):c.2394C>T (p.Asp798=) rs749555689 0.00001
NM_001378454.1(ALMS1):c.2396A>G (p.Gln799Arg) rs530083993 0.00001
NM_001378454.1(ALMS1):c.2400G>A (p.Lys800=) rs748416864 0.00001
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala) rs772260271 0.00001
NM_001378454.1(ALMS1):c.244G>C (p.Ala82Pro) rs1453391868 0.00001
NM_001378454.1(ALMS1):c.2454T>C (p.Leu818=) rs1247367857 0.00001
NM_001378454.1(ALMS1):c.2463C>T (p.Tyr821=) rs936723133 0.00001
NM_001378454.1(ALMS1):c.2464C>T (p.Gln822Ter) rs568037602 0.00001
NM_001378454.1(ALMS1):c.2466A>G (p.Gln822=) rs755661115 0.00001
NM_001378454.1(ALMS1):c.2472C>G (p.Ala824=) rs368270850 0.00001
NM_001378454.1(ALMS1):c.2477T>G (p.Leu826Arg) rs1343407616 0.00001
NM_001378454.1(ALMS1):c.2481C>T (p.Asp827=) rs748371743 0.00001
NM_001378454.1(ALMS1):c.2517T>G (p.Ala839=) rs765949316 0.00001
NM_001378454.1(ALMS1):c.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.2547G>T (p.Gly849=) rs1469851023 0.00001
NM_001378454.1(ALMS1):c.2562C>T (p.Thr854=) rs1224727067 0.00001
NM_001378454.1(ALMS1):c.2576C>T (p.Ala859Val) rs749219852 0.00001
NM_001378454.1(ALMS1):c.2598G>A (p.Lys866=) rs760421159 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.2676A>G (p.Gly892=) rs745887923 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.27G>C (p.Pro9=) rs1283224132 0.00001
NM_001378454.1(ALMS1):c.2818T>C (p.Leu940=) rs1354122111 0.00001
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter) rs539612316 0.00001
NM_001378454.1(ALMS1):c.282G>C (p.Pro94=) rs764095354 0.00001
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter) rs750326619 0.00001
NM_001378454.1(ALMS1):c.2840C>T (p.Thr947Ile) rs576877900 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.3009C>T (p.Phe1003=) rs1572933379 0.00001
NM_001378454.1(ALMS1):c.3016dup (p.Arg1006fs) rs878854998 0.00001
NM_001378454.1(ALMS1):c.3029G>A (p.Ser1010Asn) rs1448665150 0.00001
NM_001378454.1(ALMS1):c.3062A>T (p.Tyr1021Phe) rs574757598 0.00001
NM_001378454.1(ALMS1):c.3064G>T (p.Ala1022Ser) rs1267229357 0.00001
NM_001378454.1(ALMS1):c.308G>T (p.Arg103Leu) rs1574424130 0.00001
NM_001378454.1(ALMS1):c.3153A>C (p.Pro1051=) rs1392773390 0.00001
NM_001378454.1(ALMS1):c.316C>T (p.Leu106=) rs1442317986 0.00001
NM_001378454.1(ALMS1):c.321G>A (p.Glu107=) rs1307758613 0.00001
NM_001378454.1(ALMS1):c.3234C>G (p.Ala1078=) rs771305195 0.00001
NM_001378454.1(ALMS1):c.323A>G (p.Lys108Arg) rs1046964700 0.00001
NM_001378454.1(ALMS1):c.324+10G>C rs778690416 0.00001
NM_001378454.1(ALMS1):c.324+15G>C rs1670526210 0.00001
NM_001378454.1(ALMS1):c.3246A>G (p.Pro1082=) rs532389598 0.00001
NM_001378454.1(ALMS1):c.325-6T>C rs760582213 0.00001
NM_001378454.1(ALMS1):c.325-8A>G rs200740825 0.00001
NM_001378454.1(ALMS1):c.3266C>G (p.Thr1089Arg) rs556855697 0.00001
NM_001378454.1(ALMS1):c.3267A>G (p.Thr1089=) rs773260160 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.3279G>A (p.Pro1093=) rs751312971 0.00001
NM_001378454.1(ALMS1):c.3291C>T (p.Tyr1097=) rs933667520 0.00001
NM_001378454.1(ALMS1):c.3310G>A (p.Gly1104Ser) rs868703237 0.00001
NM_001378454.1(ALMS1):c.3324A>G (p.Gln1108=) rs780391682 0.00001
NM_001378454.1(ALMS1):c.3336A>G (p.Pro1112=) rs774634872 0.00001
NM_001378454.1(ALMS1):c.333A>G (p.Pro111=) rs1190737675 0.00001
NM_001378454.1(ALMS1):c.3352A>G (p.Lys1118Glu) rs770713526 0.00001
NM_001378454.1(ALMS1):c.3373G>T (p.Val1125Leu) rs1180431442 0.00001
NM_001378454.1(ALMS1):c.341G>T (p.Cys114Phe) rs1052797474 0.00001
NM_001378454.1(ALMS1):c.3450G>A (p.Lys1150=) rs373926995 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.3576C>G (p.Tyr1192Ter) rs1671899045 0.00001
NM_001378454.1(ALMS1):c.35_36insCGAGGAGGAGGA (p.Glu28_Ala29insGluGluGluGlu) rs764804760 0.00001
NM_001378454.1(ALMS1):c.3605A>G (p.Tyr1202Cys) rs772706904 0.00001
NM_001378454.1(ALMS1):c.360_363dup (p.Tyr122fs) rs753301358 0.00001
NM_001378454.1(ALMS1):c.3623G>A (p.Gly1208Asp) rs765685207 0.00001
NM_001378454.1(ALMS1):c.3649A>T (p.Lys1217Ter) rs779928593 0.00001
NM_001378454.1(ALMS1):c.365A>G (p.Tyr122Cys) rs757838184 0.00001
NM_001378454.1(ALMS1):c.367C>T (p.Gln123Ter) rs1392057115 0.00001
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs) rs1296683633 0.00001
NM_001378454.1(ALMS1):c.3696A>G (p.Pro1232=) rs766030249 0.00001
NM_001378454.1(ALMS1):c.3700C>T (p.Pro1234Ser) rs777259139 0.00001
NM_001378454.1(ALMS1):c.3717C>T (p.Tyr1239=) rs1435076239 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.3879C>G (p.Pro1293=) rs758192739 0.00001
NM_001378454.1(ALMS1):c.3900G>A (p.Ser1300=) rs1480882041 0.00001
NM_001378454.1(ALMS1):c.3914A>G (p.His1305Arg) rs1394932968 0.00001
NM_001378454.1(ALMS1):c.3921T>C (p.Thr1307=) rs948851454 0.00001
NM_001378454.1(ALMS1):c.392C>A (p.Ser131Tyr) rs756453260 0.00001
NM_001378454.1(ALMS1):c.3930T>C (p.Ala1310=) rs1558649057 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.402T>C (p.Asn134=) rs1240872723 0.00001
NM_001378454.1(ALMS1):c.4057C>A (p.Pro1353Thr) rs1005994594 0.00001
NM_001378454.1(ALMS1):c.4098A>G (p.Pro1366=) rs772462489 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.4176C>T (p.Tyr1392=) rs772411117 0.00001
NM_001378454.1(ALMS1):c.417A>G (p.Glu139=) rs1671018870 0.00001
NM_001378454.1(ALMS1):c.4180C>T (p.Gln1394Ter) rs969786171 0.00001
NM_001378454.1(ALMS1):c.4181A>G (p.Gln1394Arg) rs368955191 0.00001
NM_001378454.1(ALMS1):c.4230G>A (p.Ala1410=) rs546247768 0.00001
NM_001378454.1(ALMS1):c.4254G>A (p.Lys1418=) rs1409007880 0.00001
NM_001378454.1(ALMS1):c.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.4398T>A (p.Ile1466=) rs762342999 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.4470T>C (p.Phe1490=) rs776573127 0.00001
NM_001378454.1(ALMS1):c.450+16C>T rs1443506357 0.00001
NM_001378454.1(ALMS1):c.450+3A>G rs1371008925 0.00001
NM_001378454.1(ALMS1):c.451-19T>C rs768590349 0.00001
NM_001378454.1(ALMS1):c.4516C>T (p.Pro1506Ser) rs1233912426 0.00001
NM_001378454.1(ALMS1):c.4536A>G (p.Thr1512=) rs972719043 0.00001
NM_001378454.1(ALMS1):c.4544del (p.Ala1515fs) rs745461983 0.00001
NM_001378454.1(ALMS1):c.4571C>G (p.Ser1524Ter) rs1558649531 0.00001
NM_001378454.1(ALMS1):c.4584A>C (p.Ala1528=) rs1463648060 0.00001
NM_001378454.1(ALMS1):c.4610C>A (p.Ala1537Glu) rs766908325 0.00001
NM_001378454.1(ALMS1):c.4615C>T (p.Leu1539=) rs754001171 0.00001
NM_001378454.1(ALMS1):c.4616T>C (p.Leu1539Pro) rs368273962 0.00001
NM_001378454.1(ALMS1):c.465G>C (p.Trp155Cys) rs1414087888 0.00001
NM_001378454.1(ALMS1):c.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.474T>G (p.Leu158=) rs1671237121 0.00001
NM_001378454.1(ALMS1):c.4765C>A (p.His1589Asn) rs771703863 0.00001
NM_001378454.1(ALMS1):c.4770A>G (p.Leu1590=) rs772781647 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.4824T>G (p.Thr1608=) rs368170757 0.00001
NM_001378454.1(ALMS1):c.4827C>T (p.Asp1609=) rs371708421 0.00001
NM_001378454.1(ALMS1):c.4888C>T (p.Gln1630Ter) rs974309886 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.4959G>A (p.Gln1653=) rs577161825 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.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.5079T>C (p.Pro1693=) rs751254168 0.00001
NM_001378454.1(ALMS1):c.5084C>T (p.Pro1695Leu) rs756796770 0.00001
NM_001378454.1(ALMS1):c.5121A>G (p.Val1707=) rs1452302408 0.00001
NM_001378454.1(ALMS1):c.5124C>T (p.Ser1708=) rs1172791139 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 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.5199A>G (p.Gln1733=) rs374143515 0.00001
NM_001378454.1(ALMS1):c.519T>A (p.Thr173=) rs749270228 0.00001
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala) rs546111188 0.00001
NM_001378454.1(ALMS1):c.5253A>G (p.Leu1751=) rs1212958211 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.5328T>C (p.Ser1776=) rs745907642 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.537G>A (p.Thr179=) rs544125936 0.00001
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter) rs759024519 0.00001
NM_001378454.1(ALMS1):c.5412T>C (p.Thr1804=) rs1671951033 0.00001
NM_001378454.1(ALMS1):c.5425A>G (p.Arg1809Gly) rs1257660889 0.00001
NM_001378454.1(ALMS1):c.5430G>A (p.Glu1810=) rs781538261 0.00001
NM_001378454.1(ALMS1):c.543T>A (p.Asp181Glu) rs1029393339 0.00001
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter) rs749339938 0.00001
NM_001378454.1(ALMS1):c.546T>C (p.Thr182=) rs771906516 0.00001
NM_001378454.1(ALMS1):c.5538G>T (p.Leu1846=) rs768057574 0.00001
NM_001378454.1(ALMS1):c.5556A>G (p.Pro1852=) rs372017680 0.00001
NM_001378454.1(ALMS1):c.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.5625A>G (p.Ala1875=) rs1214725052 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.5727G>A (p.Glu1909=) rs748955901 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.588G>A (p.Thr196=) rs1448744121 0.00001
NM_001378454.1(ALMS1):c.5903C>G (p.Ser1968Ter) rs1490127694 0.00001
NM_001378454.1(ALMS1):c.5905C>G (p.Pro1969Ala) rs552496175 0.00001
NM_001378454.1(ALMS1):c.591A>G (p.Gln197=) rs373438786 0.00001
NM_001378454.1(ALMS1):c.5921C>G (p.Ala1974Gly) rs563067980 0.00001
NM_001378454.1(ALMS1):c.5937G>C (p.Gly1979=) rs753533853 0.00001
NM_001378454.1(ALMS1):c.5956A>G (p.Ser1986Gly) rs778684767 0.00001
NM_001378454.1(ALMS1):c.6003G>C (p.Val2001=) rs765190182 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.6071A>G (p.Lys2024Arg) rs369339997 0.00001
NM_001378454.1(ALMS1):c.6077A>G (p.Lys2026Arg) rs367904732 0.00001
NM_001378454.1(ALMS1):c.6084A>G (p.Ser2028=) rs776704483 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.6141C>G (p.Ser2047=) rs960120562 0.00001
NM_001378454.1(ALMS1):c.6166A>G (p.Ile2056Val) rs747108462 0.00001
NM_001378454.1(ALMS1):c.6177A>G (p.Gln2059=) rs202168524 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.619A>T (p.Arg207Ter) rs771994237 0.00001
NM_001378454.1(ALMS1):c.61G>T (p.Glu21Ter) rs1438410766 0.00001
NM_001378454.1(ALMS1):c.6201A>G (p.Gln2067=) rs1422537312 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.6219G>A (p.Lys2073=) rs1383333428 0.00001
NM_001378454.1(ALMS1):c.6229G>A (p.Val2077Ile) rs779402813 0.00001
NM_001378454.1(ALMS1):c.6243T>C (p.Thr2081=) rs1034084163 0.00001
NM_001378454.1(ALMS1):c.6251A>G (p.Asn2084Ser) rs771084714 0.00001
NM_001378454.1(ALMS1):c.6267A>C (p.Val2089=) rs1357847945 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.6477A>T (p.Arg2159Ser) rs772943318 0.00001
NM_001378454.1(ALMS1):c.6478C>T (p.His2160Tyr) rs1479606549 0.00001
NM_001378454.1(ALMS1):c.6483A>G (p.Leu2161=) rs750552165 0.00001
NM_001378454.1(ALMS1):c.6495T>C (p.Ala2165=) rs189124891 0.00001
NM_001378454.1(ALMS1):c.6496C>G (p.Leu2166Val) rs1200119538 0.00001
NM_001378454.1(ALMS1):c.6506C>T (p.Ser2169Leu) rs368833782 0.00001
NM_001378454.1(ALMS1):c.6525T>A (p.Ala2175=) rs770611166 0.00001
NM_001378454.1(ALMS1):c.6529C>G (p.Gln2177Glu) rs776108315 0.00001
NM_001378454.1(ALMS1):c.6552T>A (p.Val2184=) rs1314059869 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.6620A>G (p.Asp2207Gly) rs756953806 0.00001
NM_001378454.1(ALMS1):c.6629A>T (p.Asn2210Ile) rs1026749292 0.00001
NM_001378454.1(ALMS1):c.6633T>G (p.Ser2211=) rs745443498 0.00001
NM_001378454.1(ALMS1):c.6639C>G (p.Asp2213Glu) rs769322538 0.00001
NM_001378454.1(ALMS1):c.6729T>C (p.Asp2243=) rs745661762 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.6797T>A (p.Leu2266Ter) rs761071372 0.00001
NM_001378454.1(ALMS1):c.6826C>T (p.Arg2276Ter) rs1238145717 0.00001
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln) rs200979896 0.00001
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter) rs761713440 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.6894G>A (p.Lys2298=) rs776841349 0.00001
NM_001378454.1(ALMS1):c.6897G>A (p.Lys2299=) rs1407961591 0.00001
NM_001378454.1(ALMS1):c.6902T>C (p.Val2301Ala) rs759819986 0.00001
NM_001378454.1(ALMS1):c.6933A>G (p.Val2311=) rs760397485 0.00001
NM_001378454.1(ALMS1):c.6966C>T (p.Phe2322=) rs370287018 0.00001
NM_001378454.1(ALMS1):c.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.7089A>G (p.Leu2363=) rs751020257 0.00001
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter) rs989080548 0.00001
NM_001378454.1(ALMS1):c.7122A>G (p.Leu2374=) rs780149631 0.00001
NM_001378454.1(ALMS1):c.7125A>G (p.Glu2375=) rs1043215081 0.00001
NM_001378454.1(ALMS1):c.7128A>G (p.Glu2376=) rs1671997943 0.00001
NM_001378454.1(ALMS1):c.7165A>C (p.Arg2389=) rs765016221 0.00001
NM_001378454.1(ALMS1):c.7217C>T (p.Pro2406Leu) rs1481573722 0.00001
NM_001378454.1(ALMS1):c.7226C>G (p.Thr2409Ser) rs866357733 0.00001
NM_001378454.1(ALMS1):c.7257C>T (p.Ala2419=) rs1476708147 0.00001
NM_001378454.1(ALMS1):c.72G>A (p.Glu24=) rs1483677896 0.00001
NM_001378454.1(ALMS1):c.7376G>C (p.Ser2459Thr) rs778055498 0.00001
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter) rs1198051503 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.7433C>G (p.Ser2478Ter) rs1303829798 0.00001
NM_001378454.1(ALMS1):c.7447G>A (p.Val2483Met) rs754242152 0.00001
NM_001378454.1(ALMS1):c.7488T>C (p.Ala2496=) rs778108392 0.00001
NM_001378454.1(ALMS1):c.7500C>T (p.Leu2500=) rs751719112 0.00001
NM_001378454.1(ALMS1):c.7526G>A (p.Arg2509Gln) rs551433143 0.00001
NM_001378454.1(ALMS1):c.753_754insA (p.Ala252fs) rs748892226 0.00001
NM_001378454.1(ALMS1):c.7540+17A>G rs760021552 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+14T>C rs1553400457 0.00001
NM_001378454.1(ALMS1):c.764+4G>A rs1167438151 0.00001
NM_001378454.1(ALMS1):c.765-10A>G rs568327363 0.00001
NM_001378454.1(ALMS1):c.765-16A>G rs765256601 0.00001
NM_001378454.1(ALMS1):c.765-4T>C rs1671338808 0.00001
NM_001378454.1(ALMS1):c.7692G>C (p.Arg2564=) rs763958360 0.00001
NM_001378454.1(ALMS1):c.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.7728C>T (p.His2576=) rs779295714 0.00001
NM_001378454.1(ALMS1):c.7743C>T (p.Ser2581=) rs370740871 0.00001
NM_001378454.1(ALMS1):c.7746T>C (p.His2582=) rs1221650688 0.00001
NM_001378454.1(ALMS1):c.776A>G (p.Asp259Gly) rs369122370 0.00001
NM_001378454.1(ALMS1):c.7780C>T (p.His2594Tyr) rs754585700 0.00001
NM_001378454.1(ALMS1):c.7785A>G (p.Pro2595=) rs764864303 0.00001
NM_001378454.1(ALMS1):c.7788A>C (p.Gln2596His) rs752127434 0.00001
NM_001378454.1(ALMS1):c.7791A>G (p.Leu2597=) rs45624944 0.00001
NM_001378454.1(ALMS1):c.7803T>C (p.Pro2601=) rs1296333400 0.00001
NM_001378454.1(ALMS1):c.7821T>C (p.Ala2607=) rs1034500469 0.00001
NM_001378454.1(ALMS1):c.7850A>G (p.Gln2617Arg) rs749293224 0.00001
NM_001378454.1(ALMS1):c.7883A>G (p.Asn2628Ser) rs776280658 0.00001
NM_001378454.1(ALMS1):c.7917T>C (p.His2639=) rs1672938733 0.00001
NM_001378454.1(ALMS1):c.7926T>C (p.Val2642=) rs749406009 0.00001
NM_001378454.1(ALMS1):c.7944A>G (p.Leu2648=) rs1407932856 0.00001
NM_001378454.1(ALMS1):c.795A>G (p.Glu265=) rs1232647931 0.00001
NM_001378454.1(ALMS1):c.8019T>C (p.Asp2673=) rs1205311372 0.00001
NM_001378454.1(ALMS1):c.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.8172A>G (p.Lys2724=) rs1672945488 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.8283C>T (p.Pro2761=) rs1458822343 0.00001
NM_001378454.1(ALMS1):c.828T>C (p.Ala276=) rs760408197 0.00001
NM_001378454.1(ALMS1):c.837G>A (p.Gln279=) rs766179893 0.00001
NM_001378454.1(ALMS1):c.8420A>C (p.Gln2807Pro) rs768782274 0.00001
NM_001378454.1(ALMS1):c.8421A>G (p.Gln2807=) rs774574310 0.00001
NM_001378454.1(ALMS1):c.8423A>G (p.Glu2808Gly) rs1255060538 0.00001
NM_001378454.1(ALMS1):c.8430A>G (p.Lys2810=) rs1483404753 0.00001
NM_001378454.1(ALMS1):c.8436A>G (p.Leu2812=) rs1672953527 0.00001
NM_001378454.1(ALMS1):c.843T>A (p.Thr281=) rs1221377566 0.00001
NM_001378454.1(ALMS1):c.846A>C (p.Ala282=) rs753487338 0.00001
NM_001378454.1(ALMS1):c.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.8565A>C (p.Gly2855=) rs775435481 0.00001
NM_001378454.1(ALMS1):c.858A>G (p.Ser286=) rs748158586 0.00001
NM_001378454.1(ALMS1):c.8622A>G (p.Pro2874=) rs748474795 0.00001
NM_001378454.1(ALMS1):c.8625T>C (p.Asp2875=) rs1403743198 0.00001
NM_001378454.1(ALMS1):c.8638A>G (p.Ile2880Val) rs767384464 0.00001
NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter) rs776563011 0.00001
NM_001378454.1(ALMS1):c.8654G>A (p.Arg2885Gln) rs185447739 0.00001
NM_001378454.1(ALMS1):c.8655A>C (p.Arg2885=) rs377249623 0.00001
NM_001378454.1(ALMS1):c.8655A>G (p.Arg2885=) rs377249623 0.00001
NM_001378454.1(ALMS1):c.8686G>A (p.Ala2896Thr) rs779240181 0.00001
NM_001378454.1(ALMS1):c.8688A>G (p.Ala2896=) rs1338132238 0.00001
NM_001378454.1(ALMS1):c.8691T>C (p.Asp2897=) rs1446635577 0.00001
NM_001378454.1(ALMS1):c.8723C>T (p.Pro2908Leu) rs537639125 0.00001
NM_001378454.1(ALMS1):c.8727A>G (p.Gln2909=) rs1258151977 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.87T>C (p.Ala29=) rs748863552 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.8856T>C (p.Gly2952=) rs764541883 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.8907C>T (p.Cys2969=) rs1355984539 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.897G>A (p.Pro299=) rs1296000408 0.00001
NM_001378454.1(ALMS1):c.901A>C (p.Ile301Leu) rs534913971 0.00001
NM_001378454.1(ALMS1):c.903A>T (p.Ile301=) rs552890246 0.00001
NM_001378454.1(ALMS1):c.9048C>T (p.Phe3016=) rs1464769523 0.00001
NM_001378454.1(ALMS1):c.9063C>T (p.Ser3021=) rs762273689 0.00001
NM_001378454.1(ALMS1):c.9073C>A (p.Pro3025Thr) rs773480197 0.00001
NM_001378454.1(ALMS1):c.9088T>G (p.Leu3030Val) rs754181473 0.00001
NM_001378454.1(ALMS1):c.9102A>G (p.Ala3034=) rs946963036 0.00001
NM_001378454.1(ALMS1):c.9109C>T (p.Pro3037Ser) rs752792682 0.00001
NM_001378454.1(ALMS1):c.9138T>C (p.Cys3046=) rs779818117 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.9171C>T (p.Ser3057=) rs1157529422 0.00001
NM_001378454.1(ALMS1):c.9174G>A (p.Lys3058=) rs773703427 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.9318T>G (p.Pro3106=) rs771679163 0.00001
NM_001378454.1(ALMS1):c.9327G>A (p.Gln3109=) rs1366215746 0.00001
NM_001378454.1(ALMS1):c.9375C>T (p.Phe3125=) rs753655534 0.00001
NM_001378454.1(ALMS1):c.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.93G>C (p.Ala31=) rs13009609 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.9480G>A (p.Val3160=) rs752405413 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.9539+10dup rs775577830 0.00001
NM_001378454.1(ALMS1):c.953G>A (p.Gly318Glu) rs372886271 0.00001
NM_001378454.1(ALMS1):c.9540-5G>A rs755268745 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.9607C>T (p.Gln3203Ter) rs956247442 0.00001
NM_001378454.1(ALMS1):c.9610A>G (p.Ile3204Val) rs377600448 0.00001
NM_001378454.1(ALMS1):c.9612A>C (p.Ile3204=) rs755456619 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.9639A>G (p.Leu3213=) rs566943393 0.00001
NM_001378454.1(ALMS1):c.9645A>G (p.Ser3215=) rs1558679135 0.00001
NM_001378454.1(ALMS1):c.9648T>G (p.Ser3216=) rs761650480 0.00001
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe) rs771768835 0.00001
NM_001378454.1(ALMS1):c.9654T>C (p.Ile3218=) rs772672912 0.00001
NM_001378454.1(ALMS1):c.9669A>C (p.Glu3223Asp) rs376206840 0.00001
NM_001378454.1(ALMS1):c.9672T>C (p.Asp3224=) rs776177155 0.00001
NM_001378454.1(ALMS1):c.9674G>A (p.Arg3225His) rs765685958 0.00001
NM_001378454.1(ALMS1):c.9693G>A (p.Glu3231=) rs764518519 0.00001
NM_001378454.1(ALMS1):c.9702C>G (p.Asn3234Lys) rs771376818 0.00001
NM_001378454.1(ALMS1):c.9711A>G (p.Leu3237=) rs374674419 0.00001
NM_001378454.1(ALMS1):c.9726C>G (p.Val3242=) rs776142259 0.00001
NM_001378454.1(ALMS1):c.9729G>A (p.Lys3243=) rs1394836058 0.00001
NM_001378454.1(ALMS1):c.9757G>T (p.Val3253Phe) rs751917932 0.00001
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=) rs370267673 0.00001
NM_001378454.1(ALMS1):c.9781+19A>G rs895296631 0.00001
NM_001378454.1(ALMS1):c.9782-13T>G rs530508947 0.00001
NM_001378454.1(ALMS1):c.9782-4T>C rs1313825506 0.00001
NM_001378454.1(ALMS1):c.9808C>T (p.Pro3270Ser) rs1673992958 0.00001
NM_001378454.1(ALMS1):c.9834T>C (p.Tyr3278=) rs1573000972 0.00001
NM_001378454.1(ALMS1):c.9852A>G (p.Gln3284=) rs1558684497 0.00001
NM_001378454.1(ALMS1):c.9867G>A (p.Pro3289=) rs773900415 0.00001
NM_001378454.1(ALMS1):c.9871T>C (p.Ser3291Pro) rs759591871 0.00001
NM_001378454.1(ALMS1):c.9885C>T (p.Thr3295=) rs1455531770 0.00001
NM_001378454.1(ALMS1):c.9897C>T (p.Ser3299=) rs1217540541 0.00001
NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs) rs754702823 0.00001
NM_001378454.1(ALMS1):c.9907+14A>G rs1402624178 0.00001
NM_001378454.1(ALMS1):c.9907+17A>C rs772675597 0.00001
NM_001378454.1(ALMS1):c.9907+9C>T rs761440321 0.00001
NM_001378454.1(ALMS1):c.9908-4G>T rs1247899083 0.00001
NM_001378454.1(ALMS1):c.9915T>C (p.Asn3305=) rs776834724 0.00001
NM_001378454.1(ALMS1):c.9987C>T (p.Asn3329=) rs1314404557 0.00001
NC_000002.11:g.(?_73610049)_(73680031_?)del
NC_000002.11:g.(?_73612987)_(73786279_?)del
NC_000002.11:g.(?_73612987)_(73836749_?)del
NC_000002.11:g.(?_73612997)_(73747163_?)dup
NC_000002.11:g.(?_73635740)_(73786279_?)del
NC_000002.11:g.(?_73646231)_(73659439_?)del
NC_000002.11:g.(?_73651548)_(73653691_?)dup
NC_000002.11:g.(?_73651548)_(73659429_?)del
NC_000002.11:g.(?_73659316)_(73659429_?)del
NC_000002.11:g.(?_73675070)_(73682442_?)del
NC_000002.11:g.(?_73676196)_(73677479_?)del
NC_000002.11:g.(?_73682279)_(73682432_?)dup
NC_000002.11:g.(?_73716741)_(73718645_?)dup
NC_000002.11:g.(?_73716751)_(73718635_?)del
NC_000002.11:g.(?_73716751)_(73747153_?)del
NC_000002.11:g.(?_73716751)_(73762086_?)del
NC_000002.11:g.(?_73716751)_(73762086_?)dup
NC_000002.11:g.(?_73716751)_(73786279_?)del
NC_000002.11:g.(?_73746892)_(73747153_?)del
NC_000002.11:g.(?_73746892)_(73762086_?)del
NC_000002.11:g.(?_73746892)_(73777574_?)del
NC_000002.11:g.(?_73746892)_(73800561_?)del
NC_000002.11:g.(?_73761931)_(73762096_?)del
NC_000002.11:g.(?_73777374)_(73777584_?)del
NC_000002.11:g.(?_73777384)_(73800561_?)del
NC_000002.11:g.(?_73777384)_(73800561_?)dup
NC_000002.11:g.(?_73784327)_(73786289_?)del
NC_000002.11:g.(?_73799369)_(73836739_?)dup
NC_000002.11:g.(?_73799379)_(73800561_?)del
NC_000002.11:g.(?_73799379)_(73800561_?)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.(?_73489624)_(73603314_?)del
NC_000002.12:g.(?_73603231)_(73609622_?)del
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.10029T>C (p.Thr3343=) rs780076628
NM_001378454.1(ALMS1):c.10029T>G (p.Thr3343=)
NM_001378454.1(ALMS1):c.10030A>G (p.Lys3344Glu) rs1674404816
NM_001378454.1(ALMS1):c.10038C>G (p.Ser3346=)
NM_001378454.1(ALMS1):c.1003G>A (p.Asp335Asn)
NM_001378454.1(ALMS1):c.10042C>T (p.Pro3348Ser)
NM_001378454.1(ALMS1):c.10047G>A (p.Val3349=) rs1674405055
NM_001378454.1(ALMS1):c.10047G>T (p.Val3349=)
NM_001378454.1(ALMS1):c.10050A>G (p.Gly3350=) rs1374824703
NM_001378454.1(ALMS1):c.10056A>G (p.Lys3352=)
NM_001378454.1(ALMS1):c.10063C>T (p.Gln3355Ter)
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.10078+18G>C rs1485299415
NM_001378454.1(ALMS1):c.10078+18del
NM_001378454.1(ALMS1):c.10078+20A>G
NM_001378454.1(ALMS1):c.10078+7G>A rs2104035384
NM_001378454.1(ALMS1):c.10078+9A>C
NM_001378454.1(ALMS1):c.10079-10_10079-9dup
NM_001378454.1(ALMS1):c.10079-11C>A rs368250605
NM_001378454.1(ALMS1):c.10079-12T>C
NM_001378454.1(ALMS1):c.10079-14T>C
NM_001378454.1(ALMS1):c.10079-15A>T
NM_001378454.1(ALMS1):c.10079-19A>G rs935864365
NM_001378454.1(ALMS1):c.10079-1G>C rs1361885101
NM_001378454.1(ALMS1):c.10079-2A>G
NM_001378454.1(ALMS1):c.10079-4C>G rs1446726516
NM_001378454.1(ALMS1):c.10079-5del rs2104057739
NM_001378454.1(ALMS1):c.10079-7A>T
NM_001378454.1(ALMS1):c.10082C>A (p.Ala3361Asp) rs1195894910
NM_001378454.1(ALMS1):c.10083C>T (p.Ala3361=)
NM_001378454.1(ALMS1):c.10089T>C (p.Val3363=) rs2104057828
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.10115A>C (p.Asn3372Thr)
NM_001378454.1(ALMS1):c.10120_10121del (p.Ser3374fs)
NM_001378454.1(ALMS1):c.10125del (p.Asp3375fs) rs2104057987
NM_001378454.1(ALMS1):c.1012C>T (p.Arg338Cys) rs867586310
NM_001378454.1(ALMS1):c.10130A>C (p.Lys3377Thr)
NM_001378454.1(ALMS1):c.10131A>G (p.Lys3377=)
NM_001378454.1(ALMS1):c.10131dup (p.Gln3378fs) rs1553416867
NM_001378454.1(ALMS1):c.10132C>T (p.Gln3378Ter)
NM_001378454.1(ALMS1):c.1013G>A (p.Arg338His)
NM_001378454.1(ALMS1):c.10140G>C (p.Glu3380Asp) rs1045473444
NM_001378454.1(ALMS1):c.10146dup (p.Ser3383fs) rs1553416872
NM_001378454.1(ALMS1):c.10152A>G (p.Thr3384=)
NM_001378454.1(ALMS1):c.10153_10158dup (p.Ala3386_Val3387insArgAla)
NM_001378454.1(ALMS1):c.10155G>A (p.Arg3385=)
NM_001378454.1(ALMS1):c.10158A>G (p.Ala3386=)
NM_001378454.1(ALMS1):c.10166A>C (p.Glu3389Ala)
NM_001378454.1(ALMS1):c.10176G>A (p.Gln3392=) rs1674567633
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.1017T>C (p.Tyr339=) rs915566618
NM_001378454.1(ALMS1):c.10185A>G (p.Glu3395=)
NM_001378454.1(ALMS1):c.10187A>G (p.Lys3396Arg)
NM_001378454.1(ALMS1):c.10188A>G (p.Lys3396=)
NM_001378454.1(ALMS1):c.10191A>G (p.Glu3397=)
NM_001378454.1(ALMS1):c.10194T>G (p.Ser3398=) rs2104058358
NM_001378454.1(ALMS1):c.10195T>C (p.Leu3399=)
NM_001378454.1(ALMS1):c.10197G>A (p.Leu3399=) rs2104058378
NM_001378454.1(ALMS1):c.10199A>C (p.Gln3400Pro)
NM_001378454.1(ALMS1):c.10200G>A (p.Gln3400=) rs2104058403
NM_001378454.1(ALMS1):c.10204G>T (p.Asp3402Tyr)
NM_001378454.1(ALMS1):c.10208C>G (p.Thr3403Ser) rs1231406875
NM_001378454.1(ALMS1):c.1020T>C (p.Asp340=)
NM_001378454.1(ALMS1):c.10210G>T (p.Ala3404Ser)
NM_001378454.1(ALMS1):c.10213+12G>A rs527508238
NM_001378454.1(ALMS1):c.10213+15T>C
NM_001378454.1(ALMS1):c.10213+17G>T
NM_001378454.1(ALMS1):c.10213+1G>A rs374681570
NM_001378454.1(ALMS1):c.10213+1G>T
NM_001378454.1(ALMS1):c.10213+7A>G rs1553416882
NM_001378454.1(ALMS1):c.10213G>A (p.Asp3405Asn)
NM_001378454.1(ALMS1):c.10213G>T (p.Asp3405Tyr) rs2104058482
NM_001378454.1(ALMS1):c.10213_10213+2del
NM_001378454.1(ALMS1):c.10214-12dup rs543855806
NM_001378454.1(ALMS1):c.10214-14T>C
NM_001378454.1(ALMS1):c.10214-16A>G
NM_001378454.1(ALMS1):c.10214-20T>G
NM_001378454.1(ALMS1):c.10214-2A>G rs2104063527
NM_001378454.1(ALMS1):c.10214-4G>C
NM_001378454.1(ALMS1):c.10214-5C>G
NM_001378454.1(ALMS1):c.10214-6_10214-5delinsGT rs2104063507
NM_001378454.1(ALMS1):c.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.10236A>C (p.Ala3412=) rs1173455677
NM_001378454.1(ALMS1):c.10241A>G (p.His3414Arg) rs1674601435
NM_001378454.1(ALMS1):c.10244C>T (p.Ser3415Leu)
NM_001378454.1(ALMS1):c.10247del (p.Ala3416fs) rs2104063719
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.102G>A (p.Ala34=) rs1574423870
NM_001378454.1(ALMS1):c.102G>C (p.Ala34=) rs1574423870
NM_001378454.1(ALMS1):c.10304A>T (p.Lys3435Ile)
NM_001378454.1(ALMS1):c.10305A>G (p.Lys3435=)
NM_001378454.1(ALMS1):c.10308G>A (p.Glu3436=)
NM_001378454.1(ALMS1):c.10311G>A (p.Glu3437=)
NM_001378454.1(ALMS1):c.10313T>C (p.Ile3438Thr) rs1674603162
NM_001378454.1(ALMS1):c.10314C>A (p.Ile3438=)
NM_001378454.1(ALMS1):c.10314C>T (p.Ile3438=)
NM_001378454.1(ALMS1):c.10316A>G (p.His3439Arg) rs139425340
NM_001378454.1(ALMS1):c.10317T>C (p.His3439=) rs948843150
NM_001378454.1(ALMS1):c.10326G>C (p.Lys3442Asn)
NM_001378454.1(ALMS1):c.10329A>G (p.Thr3443=)
NM_001378454.1(ALMS1):c.1032A>T (p.Ser344=) rs376519124
NM_001378454.1(ALMS1):c.10330G>A (p.Val3444Ile)
NM_001378454.1(ALMS1):c.10332T>C (p.Val3444=)
NM_001378454.1(ALMS1):c.10332del (p.Glu3446fs)
NM_001378454.1(ALMS1):c.10334_10335delinsTA (p.Pro3445Leu)
NM_001378454.1(ALMS1):c.10335C>G (p.Pro3445=)
NM_001378454.1(ALMS1):c.10336G>A (p.Glu3446Lys)
NM_001378454.1(ALMS1):c.10353C>A (p.Asn3451Lys) rs1209953727
NM_001378454.1(ALMS1):c.10355dup (p.Asn3452fs)
NM_001378454.1(ALMS1):c.10358A>G (p.Lys3453Arg)
NM_001378454.1(ALMS1):c.10362A>G (p.Glu3454=) rs762161593
NM_001378454.1(ALMS1):c.10368A>G (p.Leu3456=) rs929142880
NM_001378454.1(ALMS1):c.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+10T>C
NM_001378454.1(ALMS1):c.10384+13G>C
NM_001378454.1(ALMS1):c.10384+14G>A
NM_001378454.1(ALMS1):c.10384+19G>A
NM_001378454.1(ALMS1):c.10384+1G>A rs766366221
NM_001378454.1(ALMS1):c.10384+2dup rs1255846889
NM_001378454.1(ALMS1):c.10384+4A>G rs2104064401
NM_001378454.1(ALMS1):c.10384+9A>G
NM_001378454.1(ALMS1):c.10384+9A>T
NM_001378454.1(ALMS1):c.10385-16T>A
NM_001378454.1(ALMS1):c.10385-16T>C rs1396255385
NM_001378454.1(ALMS1):c.10385-17T>C
NM_001378454.1(ALMS1):c.10385-2A>G rs1255779642
NM_001378454.1(ALMS1):c.10385-7T>A rs1298945759
NM_001378454.1(ALMS1):c.10385-7T>G rs1298945759
NM_001378454.1(ALMS1):c.10386G>A (p.Glu3462=) rs773637244
NM_001378454.1(ALMS1):c.10404A>G (p.Glu3468=) rs1451268706
NM_001378454.1(ALMS1):c.10412A>C (p.Asn3471Thr) rs2104103500
NM_001378454.1(ALMS1):c.10413T>C (p.Asn3471=)
NM_001378454.1(ALMS1):c.10416T>C (p.Thr3472=)
NM_001378454.1(ALMS1):c.10417A>T (p.Thr3473Ser) rs2104103542
NM_001378454.1(ALMS1):c.1041A>C (p.Ser347=) rs1553400737
NM_001378454.1(ALMS1):c.1041A>G (p.Ser347=) rs1553400737
NM_001378454.1(ALMS1):c.1041A>T (p.Ser347=) rs1553400737
NM_001378454.1(ALMS1):c.10421G>A (p.Arg3474His)
NM_001378454.1(ALMS1):c.10421del (p.Arg3474fs) rs2104103586
NM_001378454.1(ALMS1):c.10424C>G (p.Ser3475Cys)
NM_001378454.1(ALMS1):c.10425T>G (p.Ser3475=)
NM_001378454.1(ALMS1):c.10443G>C (p.Lys3481Asn)
NM_001378454.1(ALMS1):c.10448A>G (p.Tyr3483Cys) rs2104103714
NM_001378454.1(ALMS1):c.10460C>T (p.Pro3487Leu) rs1674947337
NM_001378454.1(ALMS1):c.10461C>A (p.Pro3487=)
NM_001378454.1(ALMS1):c.10462G>A (p.Val3488Ile)
NM_001378454.1(ALMS1):c.10464A>C (p.Val3488=) rs28730858
NM_001378454.1(ALMS1):c.10468C>T (p.Leu3490=)
NM_001378454.1(ALMS1):c.10470A>G (p.Leu3490=) rs2104103821
NM_001378454.1(ALMS1):c.10474A>G (p.Ser3492Gly)
NM_001378454.1(ALMS1):c.1047G>A (p.Lys349=) rs574271805
NM_001378454.1(ALMS1):c.10481A>G (p.Gln3494Arg) rs1553418430
NM_001378454.1(ALMS1):c.10482A>G (p.Gln3494=) rs2104103900
NM_001378454.1(ALMS1):c.10483G>A (p.Asp3495Asn) rs533617405
NM_001378454.1(ALMS1):c.10485T>C (p.Asp3495=) rs776784912
NM_001378454.1(ALMS1):c.10488T>A (p.Ile3496=) rs1438143250
NM_001378454.1(ALMS1):c.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.10507_10510del (p.Lys3503fs)
NM_001378454.1(ALMS1):c.1050A>T (p.Thr350=) rs2103715526
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.10539T>C (p.Asp3513=)
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter) rs375019820
NM_001378454.1(ALMS1):c.10554T>C (p.His3518=) rs1005737478
NM_001378454.1(ALMS1):c.10558G>C (p.Asp3520His) rs1403094265
NM_001378454.1(ALMS1):c.10558_10561del (p.Asp3520fs) rs2104104189
NM_001378454.1(ALMS1):c.10562A>G (p.Lys3521Arg)
NM_001378454.1(ALMS1):c.10565A>G (p.His3522Arg)
NM_001378454.1(ALMS1):c.10566T>C (p.His3522=) rs778554206
NM_001378454.1(ALMS1):c.10566_10567del (p.His3522fs) rs1163532771
NM_001378454.1(ALMS1):c.10569A>G (p.Arg3523=)
NM_001378454.1(ALMS1):c.10572A>G (p.Glu3524=) rs1335438080
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.10591_10594del (p.Pro3531fs)
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.10608C>T (p.Asp3536=) rs765108975
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.10619_10622del (p.Thr3540fs) rs2104104427
NM_001378454.1(ALMS1):c.10620A>G (p.Thr3540=) rs2104104435
NM_001378454.1(ALMS1):c.10621G>A (p.Asp3541Asn)
NM_001378454.1(ALMS1):c.10625A>T (p.Tyr3542Phe)
NM_001378454.1(ALMS1):c.10629C>G (p.Thr3543=)
NM_001378454.1(ALMS1):c.1062A>T (p.Thr354=)
NM_001378454.1(ALMS1):c.10632A>G (p.Arg3544=)
NM_001378454.1(ALMS1):c.10641C>G (p.Ser3547Arg) rs893243465
NM_001378454.1(ALMS1):c.10641C>T (p.Ser3547=) rs893243465
NM_001378454.1(ALMS1):c.10643T>A (p.Leu3548His) rs1674958037
NM_001378454.1(ALMS1):c.10644C>G (p.Leu3548=) rs1180701508
NM_001378454.1(ALMS1):c.1064A>G (p.Gln355Arg)
NM_001378454.1(ALMS1):c.10652A>G (p.Asn3551Ser) rs868744829
NM_001378454.1(ALMS1):c.10652dup (p.Asn3551fs)
NM_001378454.1(ALMS1):c.10656G>A (p.Val3552=) rs2104104616
NM_001378454.1(ALMS1):c.1065G>A (p.Gln355=) rs2103715566
NM_001378454.1(ALMS1):c.10660T>C (p.Leu3554=)
NM_001378454.1(ALMS1):c.10665A>C (p.Gly3555=) rs1674958752
NM_001378454.1(ALMS1):c.10668C>G (p.Asn3556Lys)
NM_001378454.1(ALMS1):c.10668del (p.Asn3556fs) rs2104104628
NM_001378454.1(ALMS1):c.10671_10674del (p.Lys3557_Glu3558insTer) rs1372103295
NM_001378454.1(ALMS1):c.10676del (p.Val3559fs) rs1573030204
NM_001378454.1(ALMS1):c.10677G>A (p.Val3559=)
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.10683T>C (p.Asp3561=) rs1357578376
NM_001378454.1(ALMS1):c.10685C>G (p.Thr3562Ser) rs1674959661
NM_001378454.1(ALMS1):c.10693A>T (p.Ser3565Cys)
NM_001378454.1(ALMS1):c.10698_10702del (p.Val3567fs)
NM_001378454.1(ALMS1):c.1069C>A (p.Pro357Thr) rs2103715581
NM_001378454.1(ALMS1):c.10701T>C (p.Val3567=) rs2104104788
NM_001378454.1(ALMS1):c.10703G>C (p.Arg3568Thr)
NM_001378454.1(ALMS1):c.10709A>G (p.Tyr3570Cys) rs2104104820
NM_001378454.1(ALMS1):c.10716A>G (p.Lys3572=) rs2104104864
NM_001378454.1(ALMS1):c.1071T>C (p.Pro357=) rs771156823
NM_001378454.1(ALMS1):c.10721A>G (p.Asn3574Ser)
NM_001378454.1(ALMS1):c.10728A>G (p.Gln3576=)
NM_001378454.1(ALMS1):c.10731T>C (p.Ile3577=) rs1553418487
NM_001378454.1(ALMS1):c.10733G>A (p.Ser3578Asn)
NM_001378454.1(ALMS1):c.10736A>G (p.Asp3579Gly)
NM_001378454.1(ALMS1):c.10743A>G (p.Gln3581=)
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.10765_10766insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAGGTCACCCCAG (p.Pro3588_Glu3589insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrIleLeuAlaAsnThrValLysProArgXaaXaaXaaXaaLysLysLysLysLysLysLysLysValThrPro) rs2104105041
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.10774A>C (p.Thr3592Pro) rs200467041
NM_001378454.1(ALMS1):c.10776T>G (p.Thr3592=) rs2104105106
NM_001378454.1(ALMS1):c.10778A>G (p.Gln3593Arg)
NM_001378454.1(ALMS1):c.10782_10792del (p.Thr3595fs)
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs) rs1218465638
NM_001378454.1(ALMS1):c.10788G>A (p.Val3596=) rs45445398
NM_001378454.1(ALMS1):c.10792T>C (p.Leu3598=) rs2104105156
NM_001378454.1(ALMS1):c.10792T>G (p.Leu3598Val)
NM_001378454.1(ALMS1):c.10797T>C (p.Asn3599=) rs2104105164
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs) rs1553418500
NM_001378454.1(ALMS1):c.10808A>G (p.Asn3603Ser)
NM_001378454.1(ALMS1):c.10812G>A (p.Lys3604=) rs878948308
NM_001378454.1(ALMS1):c.10815T>C (p.Tyr3605=)
NM_001378454.1(ALMS1):c.10819G>A (p.Glu3607Lys)
NM_001378454.1(ALMS1):c.10822C>G (p.Arg3608Gly)
NM_001378454.1(ALMS1):c.10824A>C (p.Arg3608=) rs2104105247
NM_001378454.1(ALMS1):c.10824A>T (p.Arg3608=)
NM_001378454.1(ALMS1):c.10827G>A (p.Gln3609=) rs2104105279
NM_001378454.1(ALMS1):c.10827G>C (p.Gln3609His) rs2104105279
NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs) rs755616266
NM_001378454.1(ALMS1):c.10831C>T (p.Gln3611Ter) rs2104105305
NM_001378454.1(ALMS1):c.10833A>G (p.Gln3611=) rs1273406580
NM_001378454.1(ALMS1):c.10833del (p.Gln3611fs)
NM_001378454.1(ALMS1):c.10834C>T (p.Gln3612Ter) rs756345976
NM_001378454.1(ALMS1):c.10838_10839del (p.Arg3613fs)
NM_001378454.1(ALMS1):c.10842G>T (p.Gln3614His)
NM_001378454.1(ALMS1):c.10849T>C (p.Leu3617=) rs780187704
NM_001378454.1(ALMS1):c.10853G>A (p.Gly3618Asp)
NM_001378454.1(ALMS1):c.10860G>A (p.Arg3620=) rs373682259
NM_001378454.1(ALMS1):c.10860del (p.Glu3622fs)
NM_001378454.1(ALMS1):c.10863A>G (p.Lys3621=)
NM_001378454.1(ALMS1):c.10868T>C (p.Leu3623Pro)
NM_001378454.1(ALMS1):c.10869G>C (p.Leu3623=) rs775336312
NM_001378454.1(ALMS1):c.10872C>T (p.Ser3624=) rs963421553
NM_001378454.1(ALMS1):c.10873T>A (p.Leu3625Met)
NM_001378454.1(ALMS1):c.10873T>C (p.Leu3625=) rs762668289
NM_001378454.1(ALMS1):c.10875G>A (p.Leu3625=)
NM_001378454.1(ALMS1):c.10876del (p.Val3626fs)
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter) rs1473611414
NM_001378454.1(ALMS1):c.10885C>T (p.Leu3629Phe)
NM_001378454.1(ALMS1):c.10886T>C (p.Leu3629Pro)
NM_001378454.1(ALMS1):c.108C>T (p.Asn36=)
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.10909C>T (p.Gln3637Ter)
NM_001378454.1(ALMS1):c.10914T>C (p.Asn3638=) rs2104105713
NM_001378454.1(ALMS1):c.10918A>G (p.Ile3640Val)
NM_001378454.1(ALMS1):c.10923A>C (p.Thr3641=)
NM_001378454.1(ALMS1):c.10923A>G (p.Thr3641=) rs879223990
NM_001378454.1(ALMS1):c.10925A>G (p.His3642Arg) rs1240495775
NM_001378454.1(ALMS1):c.10929T>C (p.Ser3643=) rs1674966983
NM_001378454.1(ALMS1):c.1092A>G (p.Lys364=)
NM_001378454.1(ALMS1):c.1092del (p.Asp365fs) rs1572914641
NM_001378454.1(ALMS1):c.10930C>G (p.Leu3644Val) rs1060500033
NM_001378454.1(ALMS1):c.10932C>A (p.Leu3644=)
NM_001378454.1(ALMS1):c.10938C>T (p.Val3646=)
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.10950A>G (p.Thr3650=)
NM_001378454.1(ALMS1):c.10951C>T (p.His3651Tyr)
NM_001378454.1(ALMS1):c.10952A>G (p.His3651Arg) rs1294645835
NM_001378454.1(ALMS1):c.10953T>C (p.His3651=) rs1482258922
NM_001378454.1(ALMS1):c.10966G>A (p.Gly3656Arg) rs1674968038
NM_001378454.1(ALMS1):c.10971A>G (p.Glu3657=) rs868321585
NM_001378454.1(ALMS1):c.10972C>T (p.Arg3658Ter) rs780438592
NM_001378454.1(ALMS1):c.1097A>G (p.Gln366Arg) rs2103715685
NM_001378454.1(ALMS1):c.10986A>G (p.Glu3662=) rs779961618
NM_001378454.1(ALMS1):c.10987T>G (p.Trp3663Gly) rs748921342
NM_001378454.1(ALMS1):c.10988G>A (p.Trp3663Ter) rs1674968936
NM_001378454.1(ALMS1):c.10989G>A (p.Trp3663Ter) rs193919339
NM_001378454.1(ALMS1):c.10994G>T (p.Gly3665Val)
NM_001378454.1(ALMS1):c.10995T>C (p.Gly3665=)
NM_001378454.1(ALMS1):c.10999C>T (p.Gln3667Ter)
NM_001378454.1(ALMS1):c.11001A>G (p.Gln3667=)
NM_001378454.1(ALMS1):c.11002C>T (p.Gln3668Ter)
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.1101T>G (p.Val367=)
NM_001378454.1(ALMS1):c.11025A>G (p.Lys3675=) rs2104106238
NM_001378454.1(ALMS1):c.11028G>T (p.Lys3676Asn)
NM_001378454.1(ALMS1):c.1102T>G (p.Ser368Ala)
NM_001378454.1(ALMS1):c.11031G>A (p.Lys3677=)
NM_001378454.1(ALMS1):c.11034G>A (p.Arg3678=)
NM_001378454.1(ALMS1):c.11037dup (p.Lys3680Ter) rs2104106303
NM_001378454.1(ALMS1):c.11041del (p.Ser3681fs)
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.11054_11055del (p.Ser3685fs)
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.11070C>A (p.Gly3690=) rs371329585
NM_001378454.1(ALMS1):c.11076T>G (p.Leu3692=) rs2104106428
NM_001378454.1(ALMS1):c.11076del (p.Ser3695fs)
NM_001378454.1(ALMS1):c.1107T>G (p.Val369=) rs2103715721
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs) rs1412574975
NM_001378454.1(ALMS1):c.11083dup (p.Ser3695fs) rs1412574975
NM_001378454.1(ALMS1):c.11084G>A (p.Ser3695Asn) rs780014956
NM_001378454.1(ALMS1):c.11091G>A (p.Val3697=)
NM_001378454.1(ALMS1):c.11091G>T (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.11104C>T (p.Arg3702Ter) rs747747269
NM_001378454.1(ALMS1):c.11105G>T (p.Arg3702Leu)
NM_001378454.1(ALMS1):c.11106A>G (p.Arg3702=)
NM_001378454.1(ALMS1):c.11107G>T (p.Ala3703Ser)
NM_001378454.1(ALMS1):c.11115G>T (p.Arg3705Ser) rs2104106559
NM_001378454.1(ALMS1):c.11117C>G (p.Ser3706Cys) rs533965968
NM_001378454.1(ALMS1):c.11118T>C (p.Ser3706=) rs2104106588
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.11133T>C (p.Ile3711=) rs1430075527
NM_001378454.1(ALMS1):c.11137C>T (p.Gln3713Ter)
NM_001378454.1(ALMS1):c.1113T>C (p.Thr371=)
NM_001378454.1(ALMS1):c.11140A>G (p.Ile3714Val) rs370536187
NM_001378454.1(ALMS1):c.11145A>G (p.Lys3715=) rs1573030809
NM_001378454.1(ALMS1):c.11150A>G (p.Asp3717Gly)
NM_001378454.1(ALMS1):c.11151T>C (p.Asp3717=)
NM_001378454.1(ALMS1):c.11154A>G (p.Lys3718=) rs2104106732
NM_001378454.1(ALMS1):c.11164A>G (p.Ser3722Gly) rs2104106753
NM_001378454.1(ALMS1):c.11166_11167del (p.Ser3722fs) rs1674975219
NM_001378454.1(ALMS1):c.11169A>G (p.Lys3723=) rs2104106786
NM_001378454.1(ALMS1):c.11170C>T (p.Gln3724Ter)
NM_001378454.1(ALMS1):c.11172G>A (p.Gln3724=)
NM_001378454.1(ALMS1):c.11175A>C (p.Pro3725=) rs1289897917
NM_001378454.1(ALMS1):c.11177G>A (p.Gly3726Asp)
NM_001378454.1(ALMS1):c.11187T>C (p.Tyr3729=) rs2104106849
NM_001378454.1(ALMS1):c.11193C>T (p.Ser3731=) rs374895214
NM_001378454.1(ALMS1):c.11198del (p.Thr3733fs)
NM_001378454.1(ALMS1):c.111G>T (p.Val37=) rs1394882288
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>A (p.Ser3735Ter) rs367877017
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.11212C>T (p.Arg3738Trp)
NM_001378454.1(ALMS1):c.11213G>C (p.Arg3738Pro)
NM_001378454.1(ALMS1):c.11214G>A (p.Arg3738=)
NM_001378454.1(ALMS1):c.11214G>T (p.Arg3738=) rs2104107028
NM_001378454.1(ALMS1):c.11217C>G (p.Pro3739=)
NM_001378454.1(ALMS1):c.11225A>T (p.Glu3742Val) rs1674978014
NM_001378454.1(ALMS1):c.11233C>T (p.Leu3745=)
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.11253C>A (p.Thr3751=)
NM_001378454.1(ALMS1):c.11253C>G (p.Thr3751=)
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.11271C>G (p.Thr3757=) rs2104107258
NM_001378454.1(ALMS1):c.11271C>T (p.Thr3757=)
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.11280T>C (p.Thr3760=) rs2104107302
NM_001378454.1(ALMS1):c.11282T>A (p.Val3761Asp)
NM_001378454.1(ALMS1):c.1128T>C (p.Thr376=) rs887851505
NM_001378454.1(ALMS1):c.11296T>C (p.Leu3766=)
NM_001378454.1(ALMS1):c.11301C>A (p.Thr3767=) rs2104107409
NM_001378454.1(ALMS1):c.11304A>G (p.Gln3768=)
NM_001378454.1(ALMS1):c.11307A>G (p.Thr3769=)
NM_001378454.1(ALMS1):c.11308G>T (p.Asp3770Tyr)
NM_001378454.1(ALMS1):c.11309A>G (p.Asp3770Gly) rs770147613
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs) rs780252175
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) rs747272625
NM_001378454.1(ALMS1):c.11319G>A (p.Val3773=)
NM_001378454.1(ALMS1):c.11322T>C (p.Ala3774=) rs2104107524
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.11325G>C (p.Leu3775=) rs1573031104
NM_001378454.1(ALMS1):c.11327A>C (p.His3776Pro)
NM_001378454.1(ALMS1):c.11328C>G (p.His3776Gln) rs45596541
NM_001378454.1(ALMS1):c.1132_1135dup (p.Asn379fs)
NM_001378454.1(ALMS1):c.11332A>T (p.Arg3778Trp) rs773130069
NM_001378454.1(ALMS1):c.11334G>A (p.Arg3778=) rs1674981904
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.11343T>C (p.Ser3781=)
NM_001378454.1(ALMS1):c.11349C>A (p.Ser3783=) rs2104107710
NM_001378454.1(ALMS1):c.1134A>G (p.Glu378=)
NM_001378454.1(ALMS1):c.11354T>C (p.Ile3785Thr)
NM_001378454.1(ALMS1):c.11358C>T (p.Asp3786=) rs1429287634
NM_001378454.1(ALMS1):c.11363C>G (p.Ala3788Gly)
NM_001378454.1(ALMS1):c.11366G>A (p.Arg3789Gln) rs1167052698
NM_001378454.1(ALMS1):c.11370G>T (p.Leu3790=) rs1389971461
NM_001378454.1(ALMS1):c.11372T>C (p.Ile3791Thr)
NM_001378454.1(ALMS1):c.11373T>G (p.Ile3791Met) rs758244336
NM_001378454.1(ALMS1):c.11374C>T (p.Gln3792Ter)
NM_001378454.1(ALMS1):c.11376A>G (p.Gln3792=)
NM_001378454.1(ALMS1):c.11377G>T (p.Ala3793Ser)
NM_001378454.1(ALMS1):c.11378C>G (p.Ala3793Gly)
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs) rs768759374
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.11394A>G (p.Arg3798=)
NM_001378454.1(ALMS1):c.11398T>C (p.Cys3800Arg)
NM_001378454.1(ALMS1):c.1139_1140dup (p.Ala381Ter)
NM_001378454.1(ALMS1):c.11400C>A (p.Cys3800Ter)
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.11411del (p.Arg3804fs) rs1263250868
NM_001378454.1(ALMS1):c.11413C>A (p.Arg3805=) rs376091780
NM_001378454.1(ALMS1):c.11414_11418del (p.Arg3805fs) rs2104108070
NM_001378454.1(ALMS1):c.11420_11424del (p.Lys3807fs) rs1553418609
NM_001378454.1(ALMS1):c.11422T>C (p.Leu3808=) rs2104108089
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.11449_11450del (p.Arg3817fs) rs776599992
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.11460T>A (p.Leu3820=) rs1352073449
NM_001378454.1(ALMS1):c.1147A>G (p.Lys383Glu) rs1671348306
NM_001378454.1(ALMS1):c.11481C>G (p.Ser3827Arg) rs549156484
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.11499_11502dup (p.His3835fs)
NM_001378454.1(ALMS1):c.114C>T (p.Asp38=)
NM_001378454.1(ALMS1):c.11508C>G (p.Pro3836=) rs2104108491
NM_001378454.1(ALMS1):c.11511A>C (p.Leu3837=)
NM_001378454.1(ALMS1):c.11511A>G (p.Leu3837=) rs374164508
NM_001378454.1(ALMS1):c.11514G>C (p.Val3838=) rs2104108533
NM_001378454.1(ALMS1):c.11515A>G (p.Thr3839Ala) rs761578558
NM_001378454.1(ALMS1):c.11517T>C (p.Thr3839=)
NM_001378454.1(ALMS1):c.11521G>A (p.Glu3841Lys)
NM_001378454.1(ALMS1):c.11541C>T (p.His3847=) rs1490288131
NM_001378454.1(ALMS1):c.11546A>G (p.Gln3849Arg) rs1674988399
NM_001378454.1(ALMS1):c.11547+12C>A rs755559102
NM_001378454.1(ALMS1):c.11547+12C>T rs755559102
NM_001378454.1(ALMS1):c.11547+15A>G
NM_001378454.1(ALMS1):c.11547+15A>T
NM_001378454.1(ALMS1):c.11547+17_11547+21del rs2104108719
NM_001378454.1(ALMS1):c.11547+18C>A
NM_001378454.1(ALMS1):c.11547+18C>G rs778165277
NM_001378454.1(ALMS1):c.11547+2T>C
NM_001378454.1(ALMS1):c.11547+3A>T rs1271250182
NM_001378454.1(ALMS1):c.11547+5A>G
NM_001378454.1(ALMS1):c.11547+6T>C
NM_001378454.1(ALMS1):c.11547+7G>A rs1553418641
NM_001378454.1(ALMS1):c.11548-11del
NM_001378454.1(ALMS1):c.11548-12_11548-11del rs767458195
NM_001378454.1(ALMS1):c.11548-15C>A
NM_001378454.1(ALMS1):c.11548-19A>G
NM_001378454.1(ALMS1):c.11548-20G>C
NM_001378454.1(ALMS1):c.11548-2A>G
NM_001378454.1(ALMS1):c.11548-4_11549del
NM_001378454.1(ALMS1):c.11548-5del rs775257923
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.11556C>T (p.Asn3852=)
NM_001378454.1(ALMS1):c.11559T>A (p.His3853Gln) rs186141821
NM_001378454.1(ALMS1):c.11559T>C (p.His3853=)
NM_001378454.1(ALMS1):c.11559T>G (p.His3853Gln) rs186141821
NM_001378454.1(ALMS1):c.1155T>C (p.Ser385=)
NM_001378454.1(ALMS1):c.11576_11577del (p.Ser3859fs) rs1675623302
NM_001378454.1(ALMS1):c.11577dup (p.Ile3860fs) rs2104188795
NM_001378454.1(ALMS1):c.11586T>G (p.Ser3862=) rs2104188842
NM_001378454.1(ALMS1):c.11589T>C (p.Ser3863=) rs2104188850
NM_001378454.1(ALMS1):c.11595T>C (p.Ser3865=) rs2104188901
NM_001378454.1(ALMS1):c.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.115del (p.Asp39fs)
NM_001378454.1(ALMS1):c.11600dup (p.Leu3868fs) rs2104188943
NM_001378454.1(ALMS1):c.11601C>G (p.Phe3867Leu) rs80009262
NM_001378454.1(ALMS1):c.11610A>C (p.Ser3870=)
NM_001378454.1(ALMS1):c.11612A>T (p.Asn3871Ile)
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.11628C>T (p.Asn3876=)
NM_001378454.1(ALMS1):c.11634G>A (p.Gln3878=)
NM_001378454.1(ALMS1):c.11641C>G (p.His3881Asp)
NM_001378454.1(ALMS1):c.11644_11645del (p.Met3882fs) rs1573052379
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+12A>C
NM_001378454.1(ALMS1):c.11668+13A>G
NM_001378454.1(ALMS1):c.11668+18A>T
NM_001378454.1(ALMS1):c.11668+1G>T rs1181992959
NM_001378454.1(ALMS1):c.11668+3A>G rs2104189383
NM_001378454.1(ALMS1):c.11669-11C>T
NM_001378454.1(ALMS1):c.11669-11del rs1261279730
NM_001378454.1(ALMS1):c.11669-22_11686del
NM_001378454.1(ALMS1):c.11669-7C>T rs548573570
NM_001378454.1(ALMS1):c.11673C>T (p.Asn3891=)
NM_001378454.1(ALMS1):c.11676G>A (p.Leu3892=) rs2104193095
NM_001378454.1(ALMS1):c.11679G>A (p.Glu3893=)
NM_001378454.1(ALMS1):c.11682del (p.Ile3894fs)
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.11700del (p.Lys3900fs) rs1553421626
NM_001378454.1(ALMS1):c.11706T>C (p.Thr3902=) rs773812568
NM_001378454.1(ALMS1):c.11707C>T (p.Arg3903Ter) rs1290800821
NM_001378454.1(ALMS1):c.11709A>C (p.Arg3903=) rs2104193292
NM_001378454.1(ALMS1):c.1170T>C (p.Ala390=) rs2103715989
NM_001378454.1(ALMS1):c.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.11714_11717del (p.Val3905fs) rs932538480
NM_001378454.1(ALMS1):c.11715T>C (p.Val3905=) rs773575203
NM_001378454.1(ALMS1):c.11715T>G (p.Val3905=) rs773575203
NM_001378454.1(ALMS1):c.11723del (p.Thr3908fs) rs1573053412
NM_001378454.1(ALMS1):c.11724T>C (p.Thr3908=) rs1675661068
NM_001378454.1(ALMS1):c.11725_11726del (p.Phe3909fs)
NM_001378454.1(ALMS1):c.11726T>C (p.Phe3909Ser)
NM_001378454.1(ALMS1):c.11730A>G (p.Pro3910=)
NM_001378454.1(ALMS1):c.11733T>A (p.Thr3911=) rs766642540
NM_001378454.1(ALMS1):c.11733T>C (p.Thr3911=) rs766642540
NM_001378454.1(ALMS1):c.11735del (p.Pro3912fs)
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.1174C>T (p.Arg392Cys) 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.11760A>G (p.Glu3920=)
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs) rs1247974278
NM_001378454.1(ALMS1):c.11766C>G (p.Asn3922Lys) rs2104193506
NM_001378454.1(ALMS1):c.11778T>G (p.Thr3926=)
NM_001378454.1(ALMS1):c.11785_11792delinsCCGGAAT (p.Ser3929fs) rs1675665426
NM_001378454.1(ALMS1):c.11787A>T (p.Ser3929=) rs1675665477
NM_001378454.1(ALMS1):c.11798G>T (p.Arg3933Leu) rs45576434
NM_001378454.1(ALMS1):c.11799T>A (p.Arg3933=) rs2104193744
NM_001378454.1(ALMS1):c.1179A>C (p.Ser393=) rs765376715
NM_001378454.1(ALMS1):c.1179A>G (p.Ser393=) rs765376715
NM_001378454.1(ALMS1):c.1179A>T (p.Ser393=) rs765376715
NM_001378454.1(ALMS1):c.117C>T (p.Asp39=) rs2104058310
NM_001378454.1(ALMS1):c.11802A>C (p.Glu3934Asp)
NM_001378454.1(ALMS1):c.11809dup (p.Met3937fs) rs757722767
NM_001378454.1(ALMS1):c.11820C>G (p.Thr3940=) rs565546868
NM_001378454.1(ALMS1):c.11820C>T (p.Thr3940=) rs565546868
NM_001378454.1(ALMS1):c.11821G>T (p.Gly3941Cys) rs61741524
NM_001378454.1(ALMS1):c.11823T>C (p.Gly3941=)
NM_001378454.1(ALMS1):c.11827C>G (p.Pro3943Ala)
NM_001378454.1(ALMS1):c.11835C>T (p.Asp3945=)
NM_001378454.1(ALMS1):c.11840A>G (p.Lys3947Arg)
NM_001378454.1(ALMS1):c.11846_11849del (p.Lys3949fs) rs765718672
NM_001378454.1(ALMS1):c.11849A>C (p.Lys3950Thr) rs2104194109
NM_001378454.1(ALMS1):c.11849del (p.Lys3950fs) rs765718672
NM_001378454.1(ALMS1):c.11850G>A (p.Lys3950=)
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.11853C>T (p.Asn3951=)
NM_001378454.1(ALMS1):c.11853del (p.Asn3951fs)
NM_001378454.1(ALMS1):c.11854A>C (p.Lys3952Gln) rs771282076
NM_001378454.1(ALMS1):c.11863T>C (p.Ser3955Pro)
NM_001378454.1(ALMS1):c.11865C>T (p.Ser3955=)
NM_001378454.1(ALMS1):c.11867A>C (p.His3956Pro)
NM_001378454.1(ALMS1):c.11872+12A>G rs193922691
NM_001378454.1(ALMS1):c.11872+17A>G
NM_001378454.1(ALMS1):c.11872+2T>A rs1553421657
NM_001378454.1(ALMS1):c.11872+9C>G rs768886966
NM_001378454.1(ALMS1):c.1187A>T (p.Gln396Leu)
NM_001378454.1(ALMS1):c.1191T>C (p.Tyr397=)
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.1200G>A (p.Gln400=)
NM_001378454.1(ALMS1):c.1201del (p.Glu401fs)
NM_001378454.1(ALMS1):c.1202A>G (p.Glu401Gly)
NM_001378454.1(ALMS1):c.1209A>G (p.Ser403=) rs2103716197
NM_001378454.1(ALMS1):c.120A>T (p.Val40=)
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.1227A>C (p.Thr409=) rs990553333
NM_001378454.1(ALMS1):c.1227A>G (p.Thr409=) rs990553333
NM_001378454.1(ALMS1):c.12299-11C>G
NM_001378454.1(ALMS1):c.12299-14C>T rs1352077204
NM_001378454.1(ALMS1):c.12299-15T>C rs1553422033
NM_001378454.1(ALMS1):c.12299-15_12299-12del rs775452962
NM_001378454.1(ALMS1):c.12299-18C>T
NM_001378454.1(ALMS1):c.12299-1G>A rs1313101326
NM_001378454.1(ALMS1):c.12299-1G>C
NM_001378454.1(ALMS1):c.12299-1del
NM_001378454.1(ALMS1):c.12299-3T>C rs1553422034
NM_001378454.1(ALMS1):c.12299-4C>T
NM_001378454.1(ALMS1):c.12299-9C>G rs1573056433
NM_001378454.1(ALMS1):c.12300C>G (p.Val4100=)
NM_001378454.1(ALMS1):c.12303C>T (p.Phe4101=)
NM_001378454.1(ALMS1):c.12305T>A (p.Leu4102Gln)
NM_001378454.1(ALMS1):c.12306G>C (p.Leu4102=) rs2104202740
NM_001378454.1(ALMS1):c.1230T>C (p.Tyr410=)
NM_001378454.1(ALMS1):c.12313C>T (p.Gln4105Ter)
NM_001378454.1(ALMS1):c.12314A>C (p.Gln4105Pro)
NM_001378454.1(ALMS1):c.12316A>G (p.Lys4106Glu)
NM_001378454.1(ALMS1):c.12318G>A (p.Lys4106=)
NM_001378454.1(ALMS1):c.12322A>G (p.Lys4108Glu)
NM_001378454.1(ALMS1):c.12323del (p.Lys4108fs) rs1675739925
NM_001378454.1(ALMS1):c.12324G>A (p.Lys4108=)
NM_001378454.1(ALMS1):c.12328A>G (p.Ile4110Val)
NM_001378454.1(ALMS1):c.12339G>A (p.Lys4113=) rs2104202897
NM_001378454.1(ALMS1):c.12340del (p.Glu4114fs) rs2104202909
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+16C>G rs1553422061
NM_001378454.1(ALMS1):c.12362+16_12362+17del rs563514664
NM_001378454.1(ALMS1):c.12362+1G>A rs2104203068
NM_001378454.1(ALMS1):c.12362+20A>T
NM_001378454.1(ALMS1):c.12362+3A>G
NM_001378454.1(ALMS1):c.12363-11C>G
NM_001378454.1(ALMS1):c.12363-20T>C
NM_001378454.1(ALMS1):c.12363-2A>C rs2104216032
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+10C>T
NM_001378454.1(ALMS1):c.1237+14T>C rs1482335275
NM_001378454.1(ALMS1):c.1237+16C>G
NM_001378454.1(ALMS1):c.1237+18T>G
NM_001378454.1(ALMS1):c.1237+2T>C rs916056435
NM_001378454.1(ALMS1):c.1237+2T>G rs916056435
NM_001378454.1(ALMS1):c.1237+4A>G rs747868844
NM_001378454.1(ALMS1):c.1237+9C>T rs201471551
NM_001378454.1(ALMS1):c.12373C>T (p.Gln4125Ter) rs1174712970
NM_001378454.1(ALMS1):c.1238-12C>G
NM_001378454.1(ALMS1):c.1238-12C>T
NM_001378454.1(ALMS1):c.1238-13T>A
NM_001378454.1(ALMS1):c.1238-16G>A
NM_001378454.1(ALMS1):c.1238-17T>C
NM_001378454.1(ALMS1):c.1238-4G>A
NM_001378454.1(ALMS1):c.1238-5T>C rs1671380405
NM_001378454.1(ALMS1):c.12382G>A (p.Glu4128Lys)
NM_001378454.1(ALMS1):c.12387A>G (p.Val4129=)
NM_001378454.1(ALMS1):c.12389A>T (p.Gln4130Leu) rs371587051
NM_001378454.1(ALMS1):c.12391A>T (p.Lys4131Ter)
NM_001378454.1(ALMS1):c.12394A>C (p.Lys4132Gln)
NM_001378454.1(ALMS1):c.12394_12397del (p.Lys4132fs) rs776401197
NM_001378454.1(ALMS1):c.12396G>A (p.Lys4132=)
NM_001378454.1(ALMS1):c.12397A>T (p.Arg4133Ter)
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.123G>C (p.Val41=)
NM_001378454.1(ALMS1):c.123G>T (p.Val41=)
NM_001378454.1(ALMS1):c.123_124delinsCA (p.Val42Ile) rs1670514979
NM_001378454.1(ALMS1):c.12402A>G (p.Glu4134=) rs1675868945
NM_001378454.1(ALMS1):c.12409A>T (p.Lys4137Ter)
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>G (p.Lys4139=) rs377361240
NM_001378454.1(ALMS1):c.12417A>T (p.Lys4139Asn)
NM_001378454.1(ALMS1):c.12423A>G (p.Glu4141=) rs2104216319
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.1243C>T (p.Leu415=) rs1388334173
NM_001378454.1(ALMS1):c.12441G>A (p.Leu4147=)
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.1245G>T (p.Leu415=) rs1553400953
NM_001378454.1(ALMS1):c.12460_12461del (p.Lys4154fs)
NM_001378454.1(ALMS1):c.12461del (p.Lys4154fs) rs1553422659
NM_001378454.1(ALMS1):c.12462+13T>G
NM_001378454.1(ALMS1):c.12462+14C>T rs2104216544
NM_001378454.1(ALMS1):c.12462+18C>T
NM_001378454.1(ALMS1):c.12462+19T>C rs1309452497
NM_001378454.1(ALMS1):c.12462+1G>T
NM_001378454.1(ALMS1):c.12462+1del rs750907119
NM_001378454.1(ALMS1):c.12462+20A>G
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.12463-11T>A
NM_001378454.1(ALMS1):c.12463-11T>G
NM_001378454.1(ALMS1):c.12463-16T>G
NM_001378454.1(ALMS1):c.12463-1G>C
NM_001378454.1(ALMS1):c.12463-20G>A
NM_001378454.1(ALMS1):c.12463-20G>C
NM_001378454.1(ALMS1):c.12463-5T>C rs2104219383
NM_001378454.1(ALMS1):c.12463-7T>C
NM_001378454.1(ALMS1):c.12463-9C>A
NM_001378454.1(ALMS1):c.12463-9C>G rs1553422761
NM_001378454.1(ALMS1):c.12465A>G (p.Arg4155=)
NM_001378454.1(ALMS1):c.12466G>A (p.Val4156Met)
NM_001378454.1(ALMS1):c.1247A>G (p.Gln416Arg) rs777072028
NM_001378454.1(ALMS1):c.12498C>T (p.Pro4166=)
NM_001378454.1(ALMS1):c.1249G>A (p.Gly417Arg)
NM_001378454.1(ALMS1):c.12507A>G (p.Ter4169Trp)
NM_001378454.1(ALMS1):c.1251G>A (p.Gly417=)
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.1266C>A (p.Asp422Glu) rs1396189205
NM_001378454.1(ALMS1):c.1266C>T (p.Asp422=) rs1396189205
NM_001378454.1(ALMS1):c.1267G>C (p.Val423Leu) rs45630557
NM_001378454.1(ALMS1):c.126C>A (p.Val42=) rs766762252
NM_001378454.1(ALMS1):c.126C>G (p.Val42=)
NM_001378454.1(ALMS1):c.1275T>C (p.Thr425=) rs2103720411
NM_001378454.1(ALMS1):c.1276C>T (p.Leu426=) rs2103720416
NM_001378454.1(ALMS1):c.1291G>T (p.Glu431Ter) rs2103720460
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.1327C>T (p.Leu443=) rs1671382711
NM_001378454.1(ALMS1):c.1335_1338del (p.Arg445fs) rs2103720605
NM_001378454.1(ALMS1):c.1336A>C (p.Lys446Gln)
NM_001378454.1(ALMS1):c.1338+11A>G rs1553400967
NM_001378454.1(ALMS1):c.1338+20T>C
NM_001378454.1(ALMS1):c.1338+3G>A
NM_001378454.1(ALMS1):c.1338+7C>G
NM_001378454.1(ALMS1):c.1338+8A>G rs2103720635
NM_001378454.1(ALMS1):c.1339-12G>C rs1260375872
NM_001378454.1(ALMS1):c.1339-16A>T
NM_001378454.1(ALMS1):c.1339-5A>G rs373469023
NM_001378454.1(ALMS1):c.1339-8C>T rs1553401596
NM_001378454.1(ALMS1):c.133G>A (p.Glu45Lys)
NM_001378454.1(ALMS1):c.1343C>G (p.Thr448Arg) rs774335945
NM_001378454.1(ALMS1):c.1343C>T (p.Thr448Ile)
NM_001378454.1(ALMS1):c.1348G>T (p.Glu450Ter) rs2103734325
NM_001378454.1(ALMS1):c.1349_1350del (p.Glu450fs)
NM_001378454.1(ALMS1):c.1350G>A (p.Glu450=)
NM_001378454.1(ALMS1):c.1352C>A (p.Ser451Ter)
NM_001378454.1(ALMS1):c.1352C>T (p.Ser451Leu)
NM_001378454.1(ALMS1):c.1359T>A (p.Tyr453Ter) rs2103734375
NM_001378454.1(ALMS1):c.135G>A (p.Glu45=) rs765418565
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.1365T>C (p.Ser455=)
NM_001378454.1(ALMS1):c.1369G>T (p.Asp457Tyr) rs1671513924
NM_001378454.1(ALMS1):c.1371T>C (p.Asp457=)
NM_001378454.1(ALMS1):c.137T>C (p.Val46Ala)
NM_001378454.1(ALMS1):c.1384A>C (p.Arg462=)
NM_001378454.1(ALMS1):c.1386G>T (p.Arg462Ser) rs749794703
NM_001378454.1(ALMS1):c.1386dup (p.Met463fs)
NM_001378454.1(ALMS1):c.138G>A (p.Val46=)
NM_001378454.1(ALMS1):c.1392T>C (p.Ser464=)
NM_001378454.1(ALMS1):c.1393C>T (p.Pro465Ser)
NM_001378454.1(ALMS1):c.1395T>C (p.Pro465=) rs2103734489
NM_001378454.1(ALMS1):c.1398C>T (p.Asp466=)
NM_001378454.1(ALMS1):c.1401T>C (p.Thr467=) rs772485366
NM_001378454.1(ALMS1):c.1401T>G (p.Thr467=) rs772485366
NM_001378454.1(ALMS1):c.1404G>A (p.Val468=)
NM_001378454.1(ALMS1):c.1413del (p.Pro472fs) rs2103734574
NM_001378454.1(ALMS1):c.141G>A (p.Glu47=)
NM_001378454.1(ALMS1):c.142G>C (p.Glu48Gln)
NM_001378454.1(ALMS1):c.1431A>G (p.Ala477=)
NM_001378454.1(ALMS1):c.1432+11A>G rs947794687
NM_001378454.1(ALMS1):c.1432+14G>A rs1204922039
NM_001378454.1(ALMS1):c.1432+14G>C
NM_001378454.1(ALMS1):c.1432+16A>G rs1553401642
NM_001378454.1(ALMS1):c.1432+18A>G
NM_001378454.1(ALMS1):c.1432+19T>C
NM_001378454.1(ALMS1):c.1432+2T>A rs2103734661
NM_001378454.1(ALMS1):c.1432+2T>C
NM_001378454.1(ALMS1):c.1432+2_1432+15del rs1203193062
NM_001378454.1(ALMS1):c.1433-10T>C
NM_001378454.1(ALMS1):c.1433-2A>G rs2103770992
NM_001378454.1(ALMS1):c.1433-8_1433-7del rs2103770966
NM_001378454.1(ALMS1):c.1436A>G (p.Asp479Gly) rs1671839144
NM_001378454.1(ALMS1):c.1440T>C (p.Thr480=) rs2103771035
NM_001378454.1(ALMS1):c.1447G>T (p.Gly483Ter) rs2103771067
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.1455A>T (p.Ile485=)
NM_001378454.1(ALMS1):c.1461A>C (p.Lys487Asn) rs1671840179
NM_001378454.1(ALMS1):c.1464T>G (p.Val488=) rs2103771151
NM_001378454.1(ALMS1):c.1466_1469del (p.Thr489fs) rs2103771168
NM_001378454.1(ALMS1):c.1473C>G (p.Ser491=) rs2103771196
NM_001378454.1(ALMS1):c.1480A>T (p.Lys494Ter) rs2103771218
NM_001378454.1(ALMS1):c.1485A>G (p.Ser495=)
NM_001378454.1(ALMS1):c.148_149delinsAA (p.Ala50Lys) rs2104058681
NM_001378454.1(ALMS1):c.1494T>C (p.Thr498=)
NM_001378454.1(ALMS1):c.1495A>G (p.Thr499Ala) rs2103771259
NM_001378454.1(ALMS1):c.1497C>T (p.Thr499=) rs2103771265
NM_001378454.1(ALMS1):c.1499_1500insGGG (p.Thr500_Pro501insGly)
NM_001378454.1(ALMS1):c.149del (p.Ala50fs) rs2104058704
NM_001378454.1(ALMS1):c.150G>C (p.Ala50=) rs757262099
NM_001378454.1(ALMS1):c.1518T>C (p.Ile506=)
NM_001378454.1(ALMS1):c.1518del (p.Ile506fs)
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.1545G>A (p.Glu515=)
NM_001378454.1(ALMS1):c.1548C>T (p.Asp516=) rs202002052
NM_001378454.1(ALMS1):c.1549del (p.Leu517fs)
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.1576C>T (p.Leu526=) rs2103170396
NM_001378454.1(ALMS1):c.1579G>T (p.Glu527Ter)
NM_001378454.1(ALMS1):c.157G>A (p.Glu53Lys) rs2104058756
NM_001378454.1(ALMS1):c.1584T>C (p.Thr528=) rs2103771543
NM_001378454.1(ALMS1):c.1589C>G (p.Thr530Ser)
NM_001378454.1(ALMS1):c.1591G>A (p.Gly531Ser)
NM_001378454.1(ALMS1):c.1594C>T (p.Gln532Ter)
NM_001378454.1(ALMS1):c.1599C>T (p.His533=) rs2103771566
NM_001378454.1(ALMS1):c.1602T>G (p.Thr534=) rs757654976
NM_001378454.1(ALMS1):c.160T>G (p.Leu54Val) rs745737550
NM_001378454.1(ALMS1):c.1610_1611del (p.Leu537fs) rs1553403282
NM_001378454.1(ALMS1):c.161T>C (p.Leu54Ser) rs755760721
NM_001378454.1(ALMS1):c.1623A>G (p.Thr541=) rs893593330
NM_001378454.1(ALMS1):c.1625T>A (p.Leu542Ter) rs1347176614
NM_001378454.1(ALMS1):c.1625T>G (p.Leu542Ter)
NM_001378454.1(ALMS1):c.1630G>A (p.Asp544Asn) rs1267086121
NM_001378454.1(ALMS1):c.1632T>C (p.Asp544=) rs2103771689
NM_001378454.1(ALMS1):c.163G>A (p.Asp55Asn)
NM_001378454.1(ALMS1):c.1641A>C (p.Leu547=) rs1200801072
NM_001378454.1(ALMS1):c.1659A>G (p.Lys553=) rs2103771780
NM_001378454.1(ALMS1):c.165C>T (p.Asp55=)
NM_001378454.1(ALMS1):c.1667C>G (p.Ala556Gly) rs2103771804
NM_001378454.1(ALMS1):c.1671T>C (p.Ile557=) rs2103771826
NM_001378454.1(ALMS1):c.1673del (p.Pro558fs)
NM_001378454.1(ALMS1):c.1674T>C (p.Pro558=)
NM_001378454.1(ALMS1):c.167C>G (p.Ser56Cys) rs2104058882
NM_001378454.1(ALMS1):c.1682C>G (p.Ala561Gly)
NM_001378454.1(ALMS1):c.168dup (p.Asp57fs) rs1269948810
NM_001378454.1(ALMS1):c.1699A>G (p.Thr567Ala)
NM_001378454.1(ALMS1):c.16C>T (p.Leu6=) rs2104056226
NM_001378454.1(ALMS1):c.1700C>G (p.Thr567Arg) rs752312999
NM_001378454.1(ALMS1):c.1704A>G (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.1713C>T (p.Leu571=)
NM_001378454.1(ALMS1):c.171C>G (p.Asp57Glu) rs2104058944
NM_001378454.1(ALMS1):c.1721C>T (p.Ser574Phe)
NM_001378454.1(ALMS1):c.1722C>A (p.Ser574=)
NM_001378454.1(ALMS1):c.1725C>T (p.His575=)
NM_001378454.1(ALMS1):c.1727C>G (p.Ser576Ter) rs756389027
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>A (p.Gly579=) rs1294566237
NM_001378454.1(ALMS1):c.1737G>T (p.Gly579=)
NM_001378454.1(ALMS1):c.1740G>A (p.Lys580=) rs2103772066
NM_001378454.1(ALMS1):c.1743C>T (p.Pro581=) rs1671847592
NM_001378454.1(ALMS1):c.1744A>C (p.Ser582Arg)
NM_001378454.1(ALMS1):c.174T>C (p.Ser58=) rs2104058977
NM_001378454.1(ALMS1):c.1754A>C (p.Tyr585Ser)
NM_001378454.1(ALMS1):c.1756C>T (p.Gln586Ter) rs2103772104
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.1782A>G (p.Leu594=) rs2103772183
NM_001378454.1(ALMS1):c.1785T>C (p.Thr595=)
NM_001378454.1(ALMS1):c.1785dup (p.Glu596Ter)
NM_001378454.1(ALMS1):c.1786del (p.Glu596fs)
NM_001378454.1(ALMS1):c.1792G>A (p.Ala598Thr) rs776537010
NM_001378454.1(ALMS1):c.1806A>G (p.Ser602=) rs1671848772
NM_001378454.1(ALMS1):c.1807G>A (p.Ala603Thr) rs745501026
NM_001378454.1(ALMS1):c.1807G>T (p.Ala603Ser)
NM_001378454.1(ALMS1):c.1809T>C (p.Ala603=) rs1558647545
NM_001378454.1(ALMS1):c.1812T>C (p.Ala604=) rs2103772267
NM_001378454.1(ALMS1):c.1813C>T (p.Pro605Ser) rs1671849058
NM_001378454.1(ALMS1):c.1816G>A (p.Gly606Arg) rs1553403321
NM_001378454.1(ALMS1):c.1816G>T (p.Gly606Ter) rs1553403321
NM_001378454.1(ALMS1):c.1818A>G (p.Gly606=) rs769637375
NM_001378454.1(ALMS1):c.1821A>T (p.Leu607=) rs1246038121
NM_001378454.1(ALMS1):c.1828C>G (p.Gln610Glu)
NM_001378454.1(ALMS1):c.1832C>G (p.Thr611Arg) rs1382642304
NM_001378454.1(ALMS1):c.1836T>C (p.Thr612=) rs2103772388
NM_001378454.1(ALMS1):c.1837_1838delinsAA (p.Gly613Asn) rs2103772404
NM_001378454.1(ALMS1):c.1839C>A (p.Gly613=) rs1671849935
NM_001378454.1(ALMS1):c.183G>A (p.Gly61=) rs1670518062
NM_001378454.1(ALMS1):c.183G>T (p.Gly61=) rs1670518062
NM_001378454.1(ALMS1):c.1844C>G (p.Ser615Ter) rs2103772444
NM_001378454.1(ALMS1):c.1847C>T (p.Thr616Ile) rs2103772456
NM_001378454.1(ALMS1):c.1848T>G (p.Thr616=)
NM_001378454.1(ALMS1):c.184C>T (p.Pro62Ser)
NM_001378454.1(ALMS1):c.1850dup (p.Thr618fs)
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.186C>T (p.Pro62=) rs1190980857
NM_001378454.1(ALMS1):c.1876_1879del (p.Glu626fs)
NM_001378454.1(ALMS1):c.1881G>A (p.Lys627=)
NM_001378454.1(ALMS1):c.1887T>C (p.Gly629=) rs2103772646
NM_001378454.1(ALMS1):c.1899A>T (p.Gln633His)
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter) rs780843883
NM_001378454.1(ALMS1):c.1901A>G (p.Gln634Arg)
NM_001378454.1(ALMS1):c.1902A>G (p.Gln634=)
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.1910del (p.Pro637fs) rs2103772743
NM_001378454.1(ALMS1):c.1911A>G (p.Pro637=)
NM_001378454.1(ALMS1):c.1912G>A (p.Glu638Lys)
NM_001378454.1(ALMS1):c.1914G>A (p.Glu638=)
NM_001378454.1(ALMS1):c.1917T>C (p.Ser639=)
NM_001378454.1(ALMS1):c.1926C>G (p.Thr642=)
NM_001378454.1(ALMS1):c.1929A>G (p.Glu643=)
NM_001378454.1(ALMS1):c.1933C>G (p.Pro645Ala) rs146234123
NM_001378454.1(ALMS1):c.193C>T (p.Leu65=) rs1670518826
NM_001378454.1(ALMS1):c.1941A>C (p.Glu647Asp) rs768031771
NM_001378454.1(ALMS1):c.1941A>G (p.Glu647=)
NM_001378454.1(ALMS1):c.1944T>G (p.Val648=)
NM_001378454.1(ALMS1):c.1946C>G (p.Ser649Ter)
NM_001378454.1(ALMS1):c.1950T>C (p.Ala650=)
NM_001378454.1(ALMS1):c.1953T>C (p.Ala651=)
NM_001378454.1(ALMS1):c.1955C>G (p.Pro652Arg)
NM_001378454.1(ALMS1):c.1956T>C (p.Pro652=)
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.1969C>T (p.Gln657Ter)
NM_001378454.1(ALMS1):c.196G>A (p.Glu66Lys)
NM_001378454.1(ALMS1):c.196G>T (p.Glu66Ter) rs1169223296
NM_001378454.1(ALMS1):c.1986T>G (p.Pro662=)
NM_001378454.1(ALMS1):c.1989A>G (p.Thr663=) rs1671853387
NM_001378454.1(ALMS1):c.1990G>T (p.Val664Leu) rs754619355
NM_001378454.1(ALMS1):c.1992A>G (p.Val664=) rs894774935
NM_001378454.1(ALMS1):c.1998T>C (p.Ser666=) rs1671853720
NM_001378454.1(ALMS1):c.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.2010A>T (p.Ser670=)
NM_001378454.1(ALMS1):c.2012A>G (p.His671Arg) rs1558647685
NM_001378454.1(ALMS1):c.201T>C (p.Ser67=)
NM_001378454.1(ALMS1):c.2021A>G (p.Asp674Gly)
NM_001378454.1(ALMS1):c.2026C>G (p.Leu676Val)
NM_001378454.1(ALMS1):c.2028C>T (p.Leu676=)
NM_001378454.1(ALMS1):c.2029T>G (p.Phe677Val)
NM_001378454.1(ALMS1):c.2034C>T (p.Phe678=) rs2103773253
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly) rs115444326
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter) rs115444326
NM_001378454.1(ALMS1):c.203T>C (p.Ile68Thr) rs765378599
NM_001378454.1(ALMS1):c.2040A>C (p.Arg680=) rs1671855079
NM_001378454.1(ALMS1):c.2041C>T (p.Gln681Ter) rs190439406
NM_001378454.1(ALMS1):c.2046C>G (p.Thr682=) rs549883815
NM_001378454.1(ALMS1):c.2046C>T (p.Thr682=)
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.2058T>G (p.Gly686=)
NM_001378454.1(ALMS1):c.2064A>G (p.Leu688=) rs2103773421
NM_001378454.1(ALMS1):c.2064_2065dup (p.Thr689fs) rs2103773428
NM_001378454.1(ALMS1):c.2065A>C (p.Thr689Pro)
NM_001378454.1(ALMS1):c.2067T>C (p.Thr689=) rs2103773444
NM_001378454.1(ALMS1):c.2071C>A (p.Gln691Lys) rs752875933
NM_001378454.1(ALMS1):c.2071C>T (p.Gln691Ter) rs752875933
NM_001378454.1(ALMS1):c.2074G>T (p.Ala692Ser) rs1309166073
NM_001378454.1(ALMS1):c.2076T>C (p.Ala692=) rs2103773481
NM_001378454.1(ALMS1):c.2079G>A (p.Leu693=)
NM_001378454.1(ALMS1):c.207C>T (p.Asp69=) rs752874408
NM_001378454.1(ALMS1):c.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.2094G>A (p.Val698=) rs200535382
NM_001378454.1(ALMS1):c.2094G>T (p.Val698=) rs200535382
NM_001378454.1(ALMS1):c.209ACGAGGAGG[1] (p.70DEE[1]) rs772848105
NM_001378454.1(ALMS1):c.209ACGAGGAGG[3] (p.70DEE[3]) rs772848105
NM_001378454.1(ALMS1):c.20del (p.Pro7fs) rs1340135231
NM_001378454.1(ALMS1):c.2100A>G (p.Gly700=) rs2103773586
NM_001378454.1(ALMS1):c.2106T>A (p.Ala702=) rs1558647749
NM_001378454.1(ALMS1):c.2106T>C (p.Ala702=)
NM_001378454.1(ALMS1):c.210C>T (p.Asp70=)
NM_001378454.1(ALMS1):c.2110C>T (p.Gln704Ter)
NM_001378454.1(ALMS1):c.2117C>T (p.Thr706Ile)
NM_001378454.1(ALMS1):c.211G>C (p.Glu71Gln) rs757131983
NM_001378454.1(ALMS1):c.211G>T (p.Glu71Ter) 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.2138C>T (p.Ser713Phe)
NM_001378454.1(ALMS1):c.2138_2139del (p.Ser713fs) rs387906313
NM_001378454.1(ALMS1):c.213G>A (p.Glu71=)
NM_001378454.1(ALMS1):c.2142T>C (p.Thr714=)
NM_001378454.1(ALMS1):c.2144C>G (p.Pro715Arg)
NM_001378454.1(ALMS1):c.2145C>T (p.Pro715=) rs2103773848
NM_001378454.1(ALMS1):c.2147A>G (p.His716Arg)
NM_001378454.1(ALMS1):c.2148C>T (p.His716=)
NM_001378454.1(ALMS1):c.214G>T (p.Glu72Ter)
NM_001378454.1(ALMS1):c.2151A>G (p.Ser717=) rs2103773885
NM_001378454.1(ALMS1):c.2153A>T (p.His718Leu) rs1182404684
NM_001378454.1(ALMS1):c.2154T>C (p.His718=)
NM_001378454.1(ALMS1):c.2157A>G (p.Arg719=) rs2103773939
NM_001378454.1(ALMS1):c.2158_2161del (p.Glu720fs)
NM_001378454.1(ALMS1):c.2163G>A (p.Lys721=) rs751753739
NM_001378454.1(ALMS1):c.2169T>C (p.Gly723=)
NM_001378454.1(ALMS1):c.216G>A (p.Glu72=)
NM_001378454.1(ALMS1):c.2170A>G (p.Ile724Val) rs1671859518
NM_001378454.1(ALMS1):c.2176del (p.Tyr726fs)
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs) rs771459937
NM_001378454.1(ALMS1):c.2177A>C (p.Tyr726Ser)
NM_001378454.1(ALMS1):c.2179C>T (p.Gln727Ter)
NM_001378454.1(ALMS1):c.2181A>G (p.Gln727=)
NM_001378454.1(ALMS1):c.2182C>T (p.Gln728Ter)
NM_001378454.1(ALMS1):c.218A>C (p.Asp73Ala)
NM_001378454.1(ALMS1):c.2193A>G (p.Ala731=)
NM_001378454.1(ALMS1):c.2199T>A (p.Ser733Arg) rs1671860790
NM_001378454.1(ALMS1):c.21A>C (p.Pro7=) rs373614102
NM_001378454.1(ALMS1):c.21A>G (p.Pro7=) rs373614102
NM_001378454.1(ALMS1):c.2203C>G (p.Gln735Glu)
NM_001378454.1(ALMS1):c.2203C>T (p.Gln735Ter) rs757152182
NM_001378454.1(ALMS1):c.2205A>G (p.Gln735=)
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.2217T>C (p.Thr739=)
NM_001378454.1(ALMS1):c.2217T>G (p.Thr739=) rs2103774244
NM_001378454.1(ALMS1):c.2218C>G (p.Leu740Val)
NM_001378454.1(ALMS1):c.2218C>T (p.Leu740Phe)
NM_001378454.1(ALMS1):c.2221dup (p.Thr741fs) rs769291842
NM_001378454.1(ALMS1):c.2222C>T (p.Thr741Ile) rs758047046
NM_001378454.1(ALMS1):c.2223T>A (p.Thr741=)
NM_001378454.1(ALMS1):c.2223T>C (p.Thr741=) rs2103774306
NM_001378454.1(ALMS1):c.2225_2226dup (p.Val743fs) rs2103774323
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.2231C>G (p.Ser744Ter)
NM_001378454.1(ALMS1):c.2237C>T (p.Thr746Ile)
NM_001378454.1(ALMS1):c.2239_3050dup (p.Trp1017delinsCysLeuAspGlnLeuThrArgArgLeuArgTyrGlnGlnTyrSerLeuValLeuThrHisLysGluLysSerLeuValPheCysThrHisArgThrTer)
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.2253C>T (p.Asp751=)
NM_001378454.1(ALMS1):c.2260A>T (p.Thr754Ser) rs781628262
NM_001378454.1(ALMS1):c.2270del (p.Pro757fs) rs1572932377
NM_001378454.1(ALMS1):c.2277A>G (p.Val759=)
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.2289T>G (p.Ser763=) rs2103774625
NM_001378454.1(ALMS1):c.228C>T (p.Ala76=) rs755847221
NM_001378454.1(ALMS1):c.2291A>G (p.Tyr764Cys)
NM_001378454.1(ALMS1):c.2292C>G (p.Tyr764Ter)
NM_001378454.1(ALMS1):c.2292C>T (p.Tyr764=) rs774724720
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.2314_2315del (p.Ile772fs) rs2103774725
NM_001378454.1(ALMS1):c.231G>A (p.Lys77=) rs2104059606
NM_001378454.1(ALMS1):c.2325A>G (p.Pro775=)
NM_001378454.1(ALMS1):c.2328G>A (p.Gln776=)
NM_001378454.1(ALMS1):c.2337A>G (p.Ala779=) rs1355065934
NM_001378454.1(ALMS1):c.2339A>T (p.Asp780Val) rs756716132
NM_001378454.1(ALMS1):c.2349A>G (p.Leu783=) rs1246528078
NM_001378454.1(ALMS1):c.2349A>T (p.Leu783=) rs1246528078
NM_001378454.1(ALMS1):c.234C>G (p.Ala78=) rs368947491
NM_001378454.1(ALMS1):c.2350C>A (p.Pro784Thr)
NM_001378454.1(ALMS1):c.2352T>G (p.Pro784=)
NM_001378454.1(ALMS1):c.2358G>T (p.Glu786Asp) rs2103774906
NM_001378454.1(ALMS1):c.2359G>A (p.Gly787Ser)
NM_001378454.1(ALMS1):c.2364G>T (p.Leu788=)
NM_001378454.1(ALMS1):c.2366A>C (p.Lys789Thr)
NM_001378454.1(ALMS1):c.236G>A (p.Trp79Ter)
NM_001378454.1(ALMS1):c.2370_2371del (p.Ala792fs) rs1271517550
NM_001378454.1(ALMS1):c.2374G>C (p.Ala792Pro) rs1181372708
NM_001378454.1(ALMS1):c.237G>A (p.Trp79Ter)
NM_001378454.1(ALMS1):c.2382T>C (p.Ala794=) rs1671866816
NM_001378454.1(ALMS1):c.2403T>C (p.Thr801=)
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.2412A>G (p.Pro804=) rs2103775022
NM_001378454.1(ALMS1):c.2414C>G (p.Thr805Arg) rs1671867434
NM_001378454.1(ALMS1):c.2415A>T (p.Thr805=)
NM_001378454.1(ALMS1):c.2416G>C (p.Val806Leu) rs138921247
NM_001378454.1(ALMS1):c.241C>G (p.Gln81Glu) rs778264668
NM_001378454.1(ALMS1):c.2421C>G (p.Pro807=)
NM_001378454.1(ALMS1):c.2423C>T (p.Ser808Phe) rs1389525541
NM_001378454.1(ALMS1):c.2430A>G (p.Ala810=) rs2103775086
NM_001378454.1(ALMS1):c.2431T>C (p.Tyr811His)
NM_001378454.1(ALMS1):c.2433C>T (p.Tyr811=) rs2103775106
NM_001378454.1(ALMS1):c.2434T>C (p.Ser812Pro)
NM_001378454.1(ALMS1):c.2434_2435dup (p.Arg814fs)
NM_001378454.1(ALMS1):c.2436A>G (p.Ser812=) rs925267503
NM_001378454.1(ALMS1):c.2443G>A (p.Glu815Lys) rs370978261
NM_001378454.1(ALMS1):c.2445_2446del (p.Lys816fs) rs765764128
NM_001378454.1(ALMS1):c.2446A>T (p.Lys816Ter)
NM_001378454.1(ALMS1):c.2467C>T (p.Gln823Ter) rs201853697
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.2483del (p.Ser828fs)
NM_001378454.1(ALMS1):c.2493C>G (p.Pro831=)
NM_001378454.1(ALMS1):c.2494G>T (p.Glu832Ter)
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.2513C>A (p.Ser838Ter) rs2103775505
NM_001378454.1(ALMS1):c.2519_2525del (p.Val840fs)
NM_001378454.1(ALMS1):c.251C>T (p.Pro84Leu)
NM_001378454.1(ALMS1):c.2535C>G (p.Asp845Glu) rs77517267
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=) rs77517267
NM_001378454.1(ALMS1):c.2536G>T (p.Gly846Ter) rs201154998
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.2553A>C (p.Pro851=) rs2103775668
NM_001378454.1(ALMS1):c.2554G>A (p.Ala852Thr)
NM_001378454.1(ALMS1):c.2555C>T (p.Ala852Val)
NM_001378454.1(ALMS1):c.255C>G (p.Gly85=)
NM_001378454.1(ALMS1):c.2561C>G (p.Thr854Ser)
NM_001378454.1(ALMS1):c.2562C>G (p.Thr854=) rs1224727067
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.2577G>C (p.Ala859=) rs547563359
NM_001378454.1(ALMS1):c.2580C>T (p.Ser860=) rs933460222
NM_001378454.1(ALMS1):c.2586A>G (p.Ser862=) rs761544791
NM_001378454.1(ALMS1):c.2592A>G (p.Gly864=) rs1553403535
NM_001378454.1(ALMS1):c.2596A>G (p.Lys866Glu) rs2103775820
NM_001378454.1(ALMS1):c.2604T>C (p.Ser868=) rs2103775854
NM_001378454.1(ALMS1):c.2615A>G (p.Gln872Arg) rs2103775891
NM_001378454.1(ALMS1):c.2616G>A (p.Gln872=)
NM_001378454.1(ALMS1):c.2617C>T (p.Gln873Ter) rs1572932845
NM_001378454.1(ALMS1):c.2622C>T (p.Thr874=)
NM_001378454.1(ALMS1):c.2637T>C (p.His879=) rs1671873372
NM_001378454.1(ALMS1):c.263T>C (p.Leu88Ser) rs2104059929
NM_001378454.1(ALMS1):c.2645A>G (p.Glu882Gly)
NM_001378454.1(ALMS1):c.2646A>G (p.Glu882=)
NM_001378454.1(ALMS1):c.2651C>T (p.Ala884Val)
NM_001378454.1(ALMS1):c.2652dup (p.Leu885fs)
NM_001378454.1(ALMS1):c.2658dup (p.Val887fs)
NM_001378454.1(ALMS1):c.265C>T (p.Pro89Ser) rs956834448
NM_001378454.1(ALMS1):c.2663C>G (p.Ser888Ter)
NM_001378454.1(ALMS1):c.2664A>C (p.Ser888=)
NM_001378454.1(ALMS1):c.2665A>T (p.Ile889Phe)
NM_001378454.1(ALMS1):c.2673T>C (p.Pro891=) rs2103776078
NM_001378454.1(ALMS1):c.2676A>C (p.Gly892=) rs745887923
NM_001378454.1(ALMS1):c.2678C>T (p.Pro893Leu) rs1671874349
NM_001378454.1(ALMS1):c.2679A>G (p.Pro893=) rs17848881
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.2687del (p.Gln896fs) rs2103776149
NM_001378454.1(ALMS1):c.2688G>A (p.Gln896=) rs2103776152
NM_001378454.1(ALMS1):c.268C>T (p.Pro90Ser)
NM_001378454.1(ALMS1):c.2695G>A (p.Gly899Arg) rs1671874954
NM_001378454.1(ALMS1):c.2697G>T (p.Gly899=) rs2103776182
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.2705C>G (p.Ser902Ter)
NM_001378454.1(ALMS1):c.2718T>C (p.Ser906=) rs2103776260
NM_001378454.1(ALMS1):c.2721C>A (p.Phe907Leu) rs2103776271
NM_001378454.1(ALMS1):c.2721C>T (p.Phe907=) rs2103776271
NM_001378454.1(ALMS1):c.2726C>T (p.Ser909Leu) rs746640196
NM_001378454.1(ALMS1):c.272T>A (p.Leu91Gln)
NM_001378454.1(ALMS1):c.2736G>A (p.Glu912=) rs2103776351
NM_001378454.1(ALMS1):c.2737A>G (p.Lys913Glu) rs2103776357
NM_001378454.1(ALMS1):c.2739G>A (p.Lys913=) rs373378385
NM_001378454.1(ALMS1):c.273G>C (p.Leu91=)
NM_001378454.1(ALMS1):c.2743dup (p.Ile915fs)
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.2751T>C (p.Phe917=) rs2103776411
NM_001378454.1(ALMS1):c.2752del (p.Ser918fs)
NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs) rs1230351650
NM_001378454.1(ALMS1):c.2754C>T (p.Ser918=)
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.2772C>T (p.Asp924=)
NM_001378454.1(ALMS1):c.277C>T (p.Pro93Ser)
NM_001378454.1(ALMS1):c.2780T>A (p.Phe927Tyr)
NM_001378454.1(ALMS1):c.2797A>T (p.Lys933Ter)
NM_001378454.1(ALMS1):c.279C>A (p.Pro93=)
NM_001378454.1(ALMS1):c.279C>G (p.Pro93=) rs770203539
NM_001378454.1(ALMS1):c.27G>A (p.Pro9=)
NM_001378454.1(ALMS1):c.2800G>T (p.Val934Phe)
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.281dup (p.Gln95fs) rs2104060044
NM_001378454.1(ALMS1):c.2820G>A (p.Leu940=)
NM_001378454.1(ALMS1):c.2827C>T (p.Gln943Ter)
NM_001378454.1(ALMS1):c.282G>A (p.Pro94=) rs764095354
NM_001378454.1(ALMS1):c.283C>A (p.Gln95Lys)
NM_001378454.1(ALMS1):c.2844A>G (p.Pro948=) rs2103776713
NM_001378454.1(ALMS1):c.2847A>G (p.Thr949=) rs773581447
NM_001378454.1(ALMS1):c.2848G>A (p.Val950Met) rs370733145
NM_001378454.1(ALMS1):c.2848G>T (p.Val950Leu) rs370733145
NM_001378454.1(ALMS1):c.284A>G (p.Gln95Arg)
NM_001378454.1(ALMS1):c.2850G>T (p.Val950=) rs551541932
NM_001378454.1(ALMS1):c.2853C>T (p.Ser951=)
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.2871T>C (p.His957=)
NM_001378454.1(ALMS1):c.2873G>A (p.Ser958Asn)
NM_001378454.1(ALMS1):c.2875G>A (p.Glu959Lys)
NM_001378454.1(ALMS1):c.2880A>G (p.Lys960=) rs1238528749
NM_001378454.1(ALMS1):c.2882C>G (p.Ser961Cys) rs2103776868
NM_001378454.1(ALMS1):c.2882del (p.Ser961fs) rs2103776873
NM_001378454.1(ALMS1):c.2884A>G (p.Ser962Gly)
NM_001378454.1(ALMS1):c.288C>T (p.His96=)
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.2896C>T (p.Gln966Ter) rs761177629
NM_001378454.1(ALMS1):c.2898G>A (p.Gln966=) rs2103776938
NM_001378454.1(ALMS1):c.2898G>T (p.Gln966His) rs2103776938
NM_001378454.1(ALMS1):c.2907G>T (p.Leu969Phe)
NM_001378454.1(ALMS1):c.2912_2915del (p.Asp971fs) rs1671880172
NM_001378454.1(ALMS1):c.2914A>T (p.Ser972Cys)
NM_001378454.1(ALMS1):c.2922A>G (p.Leu974=) rs199769789
NM_001378454.1(ALMS1):c.2925T>C (p.Pro975=) rs751486678
NM_001378454.1(ALMS1):c.2930A>T (p.Glu977Val)
NM_001378454.1(ALMS1):c.2934T>C (p.Ser978=)
NM_001378454.1(ALMS1):c.2935C>T (p.Leu979=) rs2103777030
NM_001378454.1(ALMS1):c.2935_2936del (p.Leu979fs) rs2103777026
NM_001378454.1(ALMS1):c.2941dup (p.Met981fs)
NM_001378454.1(ALMS1):c.2943G>C (p.Met981Ile) rs757088179
NM_001378454.1(ALMS1):c.2949T>C (p.Ala983=) rs1229095266
NM_001378454.1(ALMS1):c.2950A>G (p.Ile984Val)
NM_001378454.1(ALMS1):c.2952T>C (p.Ile984=)
NM_001378454.1(ALMS1):c.2954C>T (p.Pro985Leu)
NM_001378454.1(ALMS1):c.2955T>C (p.Pro985=) rs2103777079
NM_001378454.1(ALMS1):c.2958A>T (p.Gly986=)
NM_001378454.1(ALMS1):c.2963del (p.Thr988fs)
NM_001378454.1(ALMS1):c.2969A>G (p.Gln990Arg)
NM_001378454.1(ALMS1):c.2973G>A (p.Lys991=) rs1444578140
NM_001378454.1(ALMS1):c.2974A>C (p.Thr992Pro) rs2103777146
NM_001378454.1(ALMS1):c.2976T>C (p.Thr992=)
NM_001378454.1(ALMS1):c.2979C>T (p.Val993=) rs1242113819
NM_001378454.1(ALMS1):c.2981C>G (p.Pro994Arg)
NM_001378454.1(ALMS1):c.2983A>G (p.Thr995Ala) rs776162820
NM_001378454.1(ALMS1):c.2985A>C (p.Thr995=) rs2103777181
NM_001378454.1(ALMS1):c.2989A>G (p.Thr997Ala)
NM_001378454.1(ALMS1):c.298G>T (p.Glu100Ter) rs1254495717
NM_001378454.1(ALMS1):c.2994_2997del (p.Pro999fs) rs766323360
NM_001378454.1(ALMS1):c.3002G>A (p.Gly1001Asp) rs773630367
NM_001378454.1(ALMS1):c.3011C>G (p.Ser1004Ter) rs1359874667
NM_001378454.1(ALMS1):c.3012del (p.His1005fs) rs2103777336
NM_001378454.1(ALMS1):c.3019_3022del (p.Glu1007fs)
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.3042A>G (p.Gln1014=)
NM_001378454.1(ALMS1):c.3045G>A (p.Gln1015=) rs2103777429
NM_001378454.1(ALMS1):c.3049T>A (p.Trp1017Arg)
NM_001378454.1(ALMS1):c.3050G>A (p.Trp1017Ter)
NM_001378454.1(ALMS1):c.3051G>A (p.Trp1017Ter) rs1671883598
NM_001378454.1(ALMS1):c.3057T>C (p.Asp1019=) rs1671883693
NM_001378454.1(ALMS1):c.3059_3062del (p.Ser1020fs) rs2103777482
NM_001378454.1(ALMS1):c.3063T>C (p.Tyr1021=)
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.3079C>T (p.Leu1027=)
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.3096C>T (p.Gly1032=)
NM_001378454.1(ALMS1):c.30C>A (p.Gly10=)
NM_001378454.1(ALMS1):c.30C>T (p.Gly10=) rs1402244580
NM_001378454.1(ALMS1):c.3102A>T (p.Gly1034=) rs2103777616
NM_001378454.1(ALMS1):c.3108T>A (p.Ala1036=) rs2103777636
NM_001378454.1(ALMS1):c.3111C>T (p.Asp1037=) rs1671884843
NM_001378454.1(ALMS1):c.3112C>T (p.Gln1038Ter) rs2103777652
NM_001378454.1(ALMS1):c.3121_3125del (p.Glu1041fs) rs1671885188
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.3129A>G (p.Pro1043=)
NM_001378454.1(ALMS1):c.312C>T (p.Thr104=)
NM_001378454.1(ALMS1):c.3138G>A (p.Gln1046=) rs2103777774
NM_001378454.1(ALMS1):c.3141T>C (p.Ser1047=) rs2103777780
NM_001378454.1(ALMS1):c.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.3150C>A (p.Tyr1050Ter) rs1671886193
NM_001378454.1(ALMS1):c.3150C>T (p.Tyr1050=)
NM_001378454.1(ALMS1):c.3162G>A (p.Glu1054=)
NM_001378454.1(ALMS1):c.3166C>T (p.Pro1056Ser)
NM_001378454.1(ALMS1):c.3168T>A (p.Pro1056=) rs1180428746
NM_001378454.1(ALMS1):c.3169A>G (p.Ser1057Gly) rs750417761
NM_001378454.1(ALMS1):c.3169A>T (p.Ser1057Cys)
NM_001378454.1(ALMS1):c.3175T>C (p.Leu1059=)
NM_001378454.1(ALMS1):c.3177G>A (p.Leu1059=) rs766133181
NM_001378454.1(ALMS1):c.3181C>T (p.Pro1061Ser) rs754651123
NM_001378454.1(ALMS1):c.319G>C (p.Glu107Gln)
NM_001378454.1(ALMS1):c.31G>T (p.Glu11Ter)
NM_001378454.1(ALMS1):c.3202C>A (p.His1068Asn)
NM_001378454.1(ALMS1):c.3207A>G (p.Leu1069=)
NM_001378454.1(ALMS1):c.3207A>T (p.Leu1069=) rs2103778010
NM_001378454.1(ALMS1):c.3210T>C (p.Pro1070=) rs2103778016
NM_001378454.1(ALMS1):c.3230C>G (p.Ser1077Ter)
NM_001378454.1(ALMS1):c.3232G>C (p.Ala1078Pro) rs1249823614
NM_001378454.1(ALMS1):c.3233C>T (p.Ala1078Val)
NM_001378454.1(ALMS1):c.3234C>A (p.Ala1078=) rs771305195
NM_001378454.1(ALMS1):c.3236T>G (p.Phe1079Cys)
NM_001378454.1(ALMS1):c.3237C>T (p.Phe1079=)
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+11C>A
NM_001378454.1(ALMS1):c.324+11_324+33dup
NM_001378454.1(ALMS1):c.324+12C>G
NM_001378454.1(ALMS1):c.324+12C>T rs1553396311
NM_001378454.1(ALMS1):c.324+14G>A rs1553396313
NM_001378454.1(ALMS1):c.324+16G>A
NM_001378454.1(ALMS1):c.324+16G>T rs1276086207
NM_001378454.1(ALMS1):c.324+18G>A rs1553396316
NM_001378454.1(ALMS1):c.324+20G>A
NM_001378454.1(ALMS1):c.324+4A>G rs1553396304
NM_001378454.1(ALMS1):c.324+5G>T
NM_001378454.1(ALMS1):c.324+7C>G rs1230102179
NM_001378454.1(ALMS1):c.324+7C>T
NM_001378454.1(ALMS1):c.324+8G>C
NM_001378454.1(ALMS1):c.3240T>C (p.Pro1080=) rs1459135087
NM_001378454.1(ALMS1):c.3248_3255del (p.Ala1083fs)
NM_001378454.1(ALMS1):c.324G>C (p.Lys108Asn)
NM_001378454.1(ALMS1):c.325-14C>G
NM_001378454.1(ALMS1):c.325-17C>T
NM_001378454.1(ALMS1):c.325-18C>T
NM_001378454.1(ALMS1):c.325-1G>A rs764337753
NM_001378454.1(ALMS1):c.325-4dup
NM_001378454.1(ALMS1):c.325-8A>C rs200740825
NM_001378454.1(ALMS1):c.3253C>T (p.Gln1085Ter)
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.3270A>G (p.Pro1090=) rs2103778240
NM_001378454.1(ALMS1):c.3278C>A (p.Pro1093Gln)
NM_001378454.1(ALMS1):c.3281C>T (p.Ser1094Phe)
NM_001378454.1(ALMS1):c.3282T>C (p.Ser1094=)
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.3297A>G (p.Gln1099=)
NM_001378454.1(ALMS1):c.3298del (p.Arg1100fs) rs1553403653
NM_001378454.1(ALMS1):c.3300A>C (p.Arg1100Ser)
NM_001378454.1(ALMS1):c.3312T>A (p.Gly1104=) rs2103778429
NM_001378454.1(ALMS1):c.3312T>C (p.Gly1104=)
NM_001378454.1(ALMS1):c.3318C>T (p.Phe1106=) rs1044966122
NM_001378454.1(ALMS1):c.3320A>G (p.Tyr1107Cys)
NM_001378454.1(ALMS1):c.3325C>T (p.Gln1109Ter) rs1671890891
NM_001378454.1(ALMS1):c.3330C>T (p.Thr1110=) rs749570443
NM_001378454.1(ALMS1):c.3331T>A (p.Leu1111Met)
NM_001378454.1(ALMS1):c.3340_3341del (p.His1115fs)
NM_001378454.1(ALMS1):c.3346C>T (p.Leu1116=)
NM_001378454.1(ALMS1):c.3350C>G (p.Pro1117Arg)
NM_001378454.1(ALMS1):c.3360T>C (p.Ala1120=)
NM_001378454.1(ALMS1):c.3361C>T (p.Leu1121=)
NM_001378454.1(ALMS1):c.3362T>C (p.Leu1121Pro)
NM_001378454.1(ALMS1):c.3366A>C (p.Lys1122Asn) rs1254282900
NM_001378454.1(ALMS1):c.336G>A (p.Leu112=) rs2103675446
NM_001378454.1(ALMS1):c.3372A>G (p.Ser1124=) rs2103778635
NM_001378454.1(ALMS1):c.3375_3376del (p.Ala1126fs) rs2103778657
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.3390A>G (p.Ala1130=)
NM_001378454.1(ALMS1):c.3399G>T (p.Lys1133Asn)
NM_001378454.1(ALMS1):c.339C>T (p.Thr113=) rs2103675459
NM_001378454.1(ALMS1):c.33G>A (p.Glu11=) rs1217067369
NM_001378454.1(ALMS1):c.3401C>G (p.Thr1134Ser)
NM_001378454.1(ALMS1):c.3405C>G (p.Gly1135=) rs1671892631
NM_001378454.1(ALMS1):c.3407C>G (p.Thr1136Arg)
NM_001378454.1(ALMS1):c.3409C>T (p.Pro1137Ser) rs2103778839
NM_001378454.1(ALMS1):c.3414T>C (p.Thr1138=) rs2103778870
NM_001378454.1(ALMS1):c.3416T>C (p.Val1139Ala)
NM_001378454.1(ALMS1):c.3422C>G (p.Ser1141Ter) rs780622565
NM_001378454.1(ALMS1):c.3428C>T (p.Ser1143Phe)
NM_001378454.1(ALMS1):c.3429C>T (p.Ser1143=)
NM_001378454.1(ALMS1):c.342T>C (p.Cys114=)
NM_001378454.1(ALMS1):c.3436C>A (p.Gln1146Lys) rs2103778961
NM_001378454.1(ALMS1):c.3436C>T (p.Gln1146Ter) rs2103778961
NM_001378454.1(ALMS1):c.3440A>T (p.His1147Leu)
NM_001378454.1(ALMS1):c.3441T>C (p.His1147=)
NM_001378454.1(ALMS1):c.3444A>G (p.Arg1148=)
NM_001378454.1(ALMS1):c.3453C>A (p.Pro1151=)
NM_001378454.1(ALMS1):c.3456C>T (p.Ser1152=) rs2103779021
NM_001378454.1(ALMS1):c.345T>C (p.His115=) rs1572904510
NM_001378454.1(ALMS1):c.3466C>T (p.Gln1156Ter)
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.3474C>T (p.Ala1158=)
NM_001378454.1(ALMS1):c.3488A>T (p.His1163Leu)
NM_001378454.1(ALMS1):c.348A>G (p.Val116=) rs1433156767
NM_001378454.1(ALMS1):c.3490A>G (p.Ile1164Val)
NM_001378454.1(ALMS1):c.3498A>G (p.Glu1166=)
NM_001378454.1(ALMS1):c.3501G>A (p.Glu1167=) rs1671897364
NM_001378454.1(ALMS1):c.3503C>T (p.Ala1168Val) rs2103779179
NM_001378454.1(ALMS1):c.3507G>A (p.Gln1169=) rs1671897487
NM_001378454.1(ALMS1):c.350G>A (p.Trp117Ter) rs1671017057
NM_001378454.1(ALMS1):c.3510A>C (p.Lys1170Asn) rs1671897603
NM_001378454.1(ALMS1):c.3510A>G (p.Lys1170=)
NM_001378454.1(ALMS1):c.3516A>G (p.Ser1172=) rs2103779222
NM_001378454.1(ALMS1):c.3523A>G (p.Thr1175Ala) rs1321889913
NM_001378454.1(ALMS1):c.3523dup (p.Thr1175fs) rs2103779248
NM_001378454.1(ALMS1):c.3525T>C (p.Thr1175=) rs2103779262
NM_001378454.1(ALMS1):c.3528A>G (p.Gly1176=) rs754195469
NM_001378454.1(ALMS1):c.3531A>G (p.Pro1177=) rs2103779290
NM_001378454.1(ALMS1):c.3534T>A (p.Gly1178=)
NM_001378454.1(ALMS1):c.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.3555A>C (p.Pro1185=) rs2103779398
NM_001378454.1(ALMS1):c.3557_3564del (p.Arg1186fs) rs2103779399
NM_001378454.1(ALMS1):c.3563T>G (p.Leu1188Arg)
NM_001378454.1(ALMS1):c.3566C>T (p.Ser1189Phe)
NM_001378454.1(ALMS1):c.3567_3586del (p.Thr1190fs)
NM_001378454.1(ALMS1):c.3570C>T (p.Thr1190=)
NM_001378454.1(ALMS1):c.3573C>T (p.Phe1191=)
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.357G>A (p.Gln119=) rs2103675566
NM_001378454.1(ALMS1):c.358_361del (p.Ile120fs)
NM_001378454.1(ALMS1):c.3596G>A (p.Gly1199Asp) rs1572934110
NM_001378454.1(ALMS1):c.3596G>C (p.Gly1199Ala)
NM_001378454.1(ALMS1):c.359_360del (p.Ile120fs) rs1553398842
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.3600T>C (p.Ile1200=)
NM_001378454.1(ALMS1):c.3610C>A (p.Gln1204Lys) rs2103779570
NM_001378454.1(ALMS1):c.3615C>T (p.Thr1205=)
NM_001378454.1(ALMS1):c.3617T>C (p.Leu1206Ser)
NM_001378454.1(ALMS1):c.3618G>A (p.Leu1206=) rs755365899
NM_001378454.1(ALMS1):c.3621A>C (p.Pro1207=)
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.3654T>A (p.Val1218=) rs1400230315
NM_001378454.1(ALMS1):c.3664C>A (p.Leu1222Ile)
NM_001378454.1(ALMS1):c.3667G>A (p.Gly1223Arg)
NM_001378454.1(ALMS1):c.3675T>C (p.Ala1225=) rs1671901472
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.3699T>A (p.Thr1233=) rs1425724214
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_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.3705C>G (p.Thr1235=) rs2103779892
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.3718_3721del (p.Ser1240fs) rs868776324
NM_001378454.1(ALMS1):c.3723C>T (p.His1241=) rs2103779956
NM_001378454.1(ALMS1):c.3725C>G (p.Thr1242Arg) rs1238618740
NM_001378454.1(ALMS1):c.3726A>G (p.Thr1242=)
NM_001378454.1(ALMS1):c.3728A>G (p.Glu1243Gly)
NM_001378454.1(ALMS1):c.3729_3730del (p.Lys1244fs)
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.3738T>C (p.Gly1246=)
NM_001378454.1(ALMS1):c.3751C>T (p.Gln1251Ter)
NM_001378454.1(ALMS1):c.3752A>G (p.Gln1251Arg)
NM_001378454.1(ALMS1):c.3755T>G (p.Val1252Gly)
NM_001378454.1(ALMS1):c.3759G>A (p.Leu1253=)
NM_001378454.1(ALMS1):c.375T>C (p.Asn125=)
NM_001378454.1(ALMS1):c.375TAG[1] (p.Ser126del) rs760942576
NM_001378454.1(ALMS1):c.3769C>T (p.His1257Tyr)
NM_001378454.1(ALMS1):c.3774A>G (p.Pro1258=)
NM_001378454.1(ALMS1):c.3780A>G (p.Glu1260=)
NM_001378454.1(ALMS1):c.3781G>T (p.Glu1261Ter) rs1085307054
NM_001378454.1(ALMS1):c.3786T>A (p.Ala1262=)
NM_001378454.1(ALMS1):c.378T>C (p.Ser126=) rs1381438379
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.3810A>G (p.Glu1270=)
NM_001378454.1(ALMS1):c.3812C>T (p.Pro1271Leu) rs372563916
NM_001378454.1(ALMS1):c.3822G>A (p.Gln1274=) rs2103780287
NM_001378454.1(ALMS1):c.3825A>G (p.Thr1275=) rs1553403752
NM_001378454.1(ALMS1):c.3828T>C (p.Thr1276=) rs1553403755
NM_001378454.1(ALMS1):c.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.3840T>G (p.Ala1280=)
NM_001378454.1(ALMS1):c.3850A>G (p.Thr1284Ala) rs1366506910
NM_001378454.1(ALMS1):c.3852T>C (p.Thr1284=) rs1671906603
NM_001378454.1(ALMS1):c.3853T>G (p.Ser1285Ala)
NM_001378454.1(ALMS1):c.3855C>T (p.Ser1285=) rs1419621960
NM_001378454.1(ALMS1):c.3857A>C (p.Tyr1286Ser) rs2103780445
NM_001378454.1(ALMS1):c.3858C>T (p.Tyr1286=)
NM_001378454.1(ALMS1):c.3859T>C (p.Ser1287Pro)
NM_001378454.1(ALMS1):c.3862_3863insTAT (p.Gln1288delinsLeuTer)
NM_001378454.1(ALMS1):c.3864A>G (p.Gln1288=)
NM_001378454.1(ALMS1):c.3867T>G (p.Tyr1289Ter) rs369314182
NM_001378454.1(ALMS1):c.3872_3875dup (p.Pro1293fs)
NM_001378454.1(ALMS1):c.3874A>G (p.Lys1292Glu) rs2103780517
NM_001378454.1(ALMS1):c.387A>C (p.Gln129His)
NM_001378454.1(ALMS1):c.3888C>T (p.Phe1296=)
NM_001378454.1(ALMS1):c.3891C>A (p.Tyr1297Ter) rs2103780557
NM_001378454.1(ALMS1):c.3895C>T (p.Gln1299Ter)
NM_001378454.1(ALMS1):c.3897G>A (p.Gln1299=) rs745335322
NM_001378454.1(ALMS1):c.3897G>T (p.Gln1299His) rs745335322
NM_001378454.1(ALMS1):c.3899C>A (p.Ser1300Ter) rs769219669
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.3900G>T (p.Ser1300=) rs1480882041
NM_001378454.1(ALMS1):c.3903G>A (p.Leu1301=) rs1572934606
NM_001378454.1(ALMS1):c.3903_4072del (p.Leu1301fs) rs2103780610
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.3918A>G (p.Leu1306=) rs2103780690
NM_001378454.1(ALMS1):c.3918_3921del (p.Thr1307fs)
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.3948T>G (p.Val1316=) rs1338636347
NM_001378454.1(ALMS1):c.3951T>G (p.Pro1317=)
NM_001378454.1(ALMS1):c.3954_3955del (p.Pro1319fs) rs2103780806
NM_001378454.1(ALMS1):c.3957A>C (p.Pro1319=) rs2103780813
NM_001378454.1(ALMS1):c.3960T>C (p.Ala1320=) rs1279158289
NM_001378454.1(ALMS1):c.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.3978A>T (p.Ile1326=)
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.399T>C (p.Thr133=)
NM_001378454.1(ALMS1):c.4002C>T (p.Tyr1334=)
NM_001378454.1(ALMS1):c.4004C>G (p.Ser1335Ter)
NM_001378454.1(ALMS1):c.4007A>G (p.His1336Arg) rs2103780957
NM_001378454.1(ALMS1):c.4008C>T (p.His1336=) rs1572934743
NM_001378454.1(ALMS1):c.4010_4011del (p.Thr1337fs) rs2103780952
NM_001378454.1(ALMS1):c.4012G>C (p.Glu1338Gln)
NM_001378454.1(ALMS1):c.4017G>A (p.Lys1339=)
NM_001378454.1(ALMS1):c.4020T>C (p.Pro1340=) rs1175672394
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.4035A>G (p.Gln1345=)
NM_001378454.1(ALMS1):c.4035_4047del (p.Gln1345fs)
NM_001378454.1(ALMS1):c.4036C>G (p.Gln1346Glu)
NM_001378454.1(ALMS1):c.4036C>T (p.Gln1346Ter)
NM_001378454.1(ALMS1):c.4039del (p.Val1347fs) rs2103781095
NM_001378454.1(ALMS1):c.4044G>A (p.Leu1348=) rs2103781109
NM_001378454.1(ALMS1):c.4051A>T (p.Ser1351Cys) rs779496090
NM_001378454.1(ALMS1):c.4052G>A (p.Ser1351Asn)
NM_001378454.1(ALMS1):c.4053T>C (p.Ser1351=) rs1671912203
NM_001378454.1(ALMS1):c.4057C>T (p.Pro1353Ser) rs1005994594
NM_001378454.1(ALMS1):c.4059A>G (p.Pro1353=) rs2103781195
NM_001378454.1(ALMS1):c.405G>C (p.Val135=) rs1485864480
NM_001378454.1(ALMS1):c.4060A>C (p.Thr1354Pro) rs1330377280
NM_001378454.1(ALMS1):c.4060A>G (p.Thr1354Ala) rs1330377280
NM_001378454.1(ALMS1):c.4071T>C (p.Ala1357=) rs1572934855
NM_001378454.1(ALMS1):c.4071T>G (p.Ala1357=) rs1572934855
NM_001378454.1(ALMS1):c.4077A>G (p.Lys1359=) rs2103781279
NM_001378454.1(ALMS1):c.4082C>T (p.Ser1361Leu) rs2103781298
NM_001378454.1(ALMS1):c.4083A>G (p.Ser1361=)
NM_001378454.1(ALMS1):c.4084G>T (p.Val1362Phe)
NM_001378454.1(ALMS1):c.408C>T (p.Val136=)
NM_001378454.1(ALMS1):c.4091C>T (p.Ser1364Phe)
NM_001378454.1(ALMS1):c.4103A>G (p.Asp1368Gly)
NM_001378454.1(ALMS1):c.4107G>A (p.Gln1369=)
NM_001378454.1(ALMS1):c.410G>C (p.Cys137Ser)
NM_001378454.1(ALMS1):c.4110A>G (p.Thr1370=) rs1379058502
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.4128A>T (p.Val1376=)
NM_001378454.1(ALMS1):c.4131C>G (p.Thr1377=) rs759705921
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.4144_4147del (p.Ser1382fs) rs2103781518
NM_001378454.1(ALMS1):c.4146A>C (p.Ser1382=)
NM_001378454.1(ALMS1):c.4151A>G (p.His1384Arg)
NM_001378454.1(ALMS1):c.4155A>G (p.Thr1385=)
NM_001378454.1(ALMS1):c.4160A>C (p.Lys1387Thr) rs1264554750
NM_001378454.1(ALMS1):c.4164G>A (p.Pro1388=)
NM_001378454.1(ALMS1):c.4164G>C (p.Pro1388=) rs1215068896
NM_001378454.1(ALMS1):c.4164G>T (p.Pro1388=) rs1215068896
NM_001378454.1(ALMS1):c.4165A>G (p.Ser1389Gly) rs866496302
NM_001378454.1(ALMS1):c.4167T>C (p.Ser1389=) rs2103781665
NM_001378454.1(ALMS1):c.4170T>G (p.Ile1390Met) rs1671916265
NM_001378454.1(ALMS1):c.4172T>C (p.Phe1391Ser)
NM_001378454.1(ALMS1):c.4179_4180inv (p.Gln1394Ter)
NM_001378454.1(ALMS1):c.4182G>A (p.Gln1394=) rs2103781742
NM_001378454.1(ALMS1):c.4184C>T (p.Ser1395Leu)
NM_001378454.1(ALMS1):c.4185G>A (p.Ser1395=) rs758814503
NM_001378454.1(ALMS1):c.4185G>T (p.Ser1395=) rs758814503
NM_001378454.1(ALMS1):c.4188G>A (p.Leu1396=)
NM_001378454.1(ALMS1):c.4200T>C (p.His1400=)
NM_001378454.1(ALMS1):c.4203A>G (p.Leu1401=) rs2103781830
NM_001378454.1(ALMS1):c.4203A>T (p.Leu1401=) rs2103781830
NM_001378454.1(ALMS1):c.4210G>T (p.Glu1404Ter) rs2103781864
NM_001378454.1(ALMS1):c.4212G>A (p.Glu1404=) rs2103781869
NM_001378454.1(ALMS1):c.4213G>A (p.Ala1405Thr) rs1671917742
NM_001378454.1(ALMS1):c.4216A>G (p.Lys1406Glu)
NM_001378454.1(ALMS1):c.4221dup (p.Val1408fs) rs2103781901
NM_001378454.1(ALMS1):c.4223T>C (p.Val1408Ala) rs750124571
NM_001378454.1(ALMS1):c.4224T>C (p.Val1408=)
NM_001378454.1(ALMS1):c.4227A>G (p.Ser1409=)
NM_001378454.1(ALMS1):c.4229C>T (p.Ala1410Val)
NM_001378454.1(ALMS1):c.422C>T (p.Thr141Ile)
NM_001378454.1(ALMS1):c.4235C>T (p.Pro1412Leu)
NM_001378454.1(ALMS1):c.4241C>G (p.Pro1414Arg)
NM_001378454.1(ALMS1):c.4242A>G (p.Pro1414=)
NM_001378454.1(ALMS1):c.4243G>C (p.Gly1415Arg) rs2103781986
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs) rs1553403851
NM_001378454.1(ALMS1):c.4250G>A (p.Arg1417Gln) rs771362238
NM_001378454.1(ALMS1):c.4257T>C (p.Thr1419=)
NM_001378454.1(ALMS1):c.425C>T (p.Ala142Val) rs2103675826
NM_001378454.1(ALMS1):c.4260G>A (p.Gly1420=) rs1302057894
NM_001378454.1(ALMS1):c.4265C>T (p.Pro1422Leu)
NM_001378454.1(ALMS1):c.4268C>T (p.Thr1423Ile)
NM_001378454.1(ALMS1):c.4271T>A (p.Leu1424Ter) rs2103782122
NM_001378454.1(ALMS1):c.4275C>T (p.Pro1425=) rs775642753
NM_001378454.1(ALMS1):c.4281T>G (p.Thr1427=)
NM_001378454.1(ALMS1):c.4286A>C (p.Tyr1429Ser) rs763136053
NM_001378454.1(ALMS1):c.4287C>T (p.Tyr1429=) rs2103782170
NM_001378454.1(ALMS1):c.4288T>G (p.Ser1430Ala) rs1671920005
NM_001378454.1(ALMS1):c.4291C>A (p.His1431Asn)
NM_001378454.1(ALMS1):c.4293C>T (p.His1431=)
NM_001378454.1(ALMS1):c.4293_4296del (p.His1431fs) rs398122993
NM_001378454.1(ALMS1):c.429G>A (p.Gln143=)
NM_001378454.1(ALMS1):c.42G>A (p.Glu14=)
NM_001378454.1(ALMS1):c.4305T>C (p.Pro1435=)
NM_001378454.1(ALMS1):c.4305T>G (p.Pro1435=)
NM_001378454.1(ALMS1):c.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.4318C>T (p.Gln1440Ter) rs1208636696
NM_001378454.1(ALMS1):c.4320A>G (p.Gln1440=)
NM_001378454.1(ALMS1):c.4321C>T (p.Gln1441Ter)
NM_001378454.1(ALMS1):c.4326C>G (p.Val1442=) rs2103782316
NM_001378454.1(ALMS1):c.4329G>A (p.Leu1443=)
NM_001378454.1(ALMS1):c.432G>C (p.Arg144=)
NM_001378454.1(ALMS1):c.4333C>T (p.His1445Tyr) rs746087402
NM_001378454.1(ALMS1):c.4335T>C (p.His1445=) rs1671921734
NM_001378454.1(ALMS1):c.4335_4336del (p.His1445fs)
NM_001378454.1(ALMS1):c.4338T>G (p.Ser1446Arg)
NM_001378454.1(ALMS1):c.4339C>T (p.His1447Tyr)
NM_001378454.1(ALMS1):c.4342C>T (p.Leu1448=) rs2103782408
NM_001378454.1(ALMS1):c.4347T>C (p.Pro1449=) rs2103782437
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter) rs778728424
NM_001378454.1(ALMS1):c.4354G>A (p.Ala1452Thr)
NM_001378454.1(ALMS1):c.4357T>C (p.Leu1453=) rs879109152
NM_001378454.1(ALMS1):c.4360G>T (p.Glu1454Ter)
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.4383A>G (p.Pro1461=) rs2103782553
NM_001378454.1(ALMS1):c.4388_4528del (p.Asp1463_Val1509del)
NM_001378454.1(ALMS1):c.4390C>T (p.Gln1464Ter) rs904289501
NM_001378454.1(ALMS1):c.4391A>G (p.Gln1464Arg)
NM_001378454.1(ALMS1):c.4391A>T (p.Gln1464Leu)
NM_001378454.1(ALMS1):c.4395G>A (p.Thr1465=) rs530399810
NM_001378454.1(ALMS1):c.4404A>G (p.Thr1468=)
NM_001378454.1(ALMS1):c.4407A>G (p.Pro1469=) rs2103782683
NM_001378454.1(ALMS1):c.4413A>G (p.Val1471=) rs2103782733
NM_001378454.1(ALMS1):c.4415C>T (p.Thr1472Ile)
NM_001378454.1(ALMS1):c.4419C>T (p.Ser1473=) rs1237859208
NM_001378454.1(ALMS1):c.441G>T (p.Gly147=) rs2103675916
NM_001378454.1(ALMS1):c.4425C>T (p.Ser1475=)
NM_001378454.1(ALMS1):c.4426A>G (p.Ser1476Gly)
NM_001378454.1(ALMS1):c.4427G>C (p.Ser1476Thr)
NM_001378454.1(ALMS1):c.4428C>T (p.Ser1476=) rs2103782815
NM_001378454.1(ALMS1):c.4436G>A (p.Gly1479Glu)
NM_001378454.1(ALMS1):c.4436G>T (p.Gly1479Val)
NM_001378454.1(ALMS1):c.4437A>G (p.Gly1479=) rs2103782849
NM_001378454.1(ALMS1):c.4446C>T (p.Pro1482=)
NM_001378454.1(ALMS1):c.444T>C (p.Asp148=) rs2103675943
NM_001378454.1(ALMS1):c.4458C>T (p.Tyr1486=) rs2103782920
NM_001378454.1(ALMS1):c.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.4482T>C (p.His1494=)
NM_001378454.1(ALMS1):c.4488T>C (p.Pro1496=)
NM_001378454.1(ALMS1):c.4498C>T (p.Leu1500=)
NM_001378454.1(ALMS1):c.450+10C>T
NM_001378454.1(ALMS1):c.450+11T>G rs763724672
NM_001378454.1(ALMS1):c.450+12G>A rs1553398856
NM_001378454.1(ALMS1):c.450+1G>A rs1302255267
NM_001378454.1(ALMS1):c.450+22_450+25del rs764559198
NM_001378454.1(ALMS1):c.450+2T>C rs1671019928
NM_001378454.1(ALMS1):c.450+7C>G
NM_001378454.1(ALMS1):c.450+7C>T
NM_001378454.1(ALMS1):c.4509A>T (p.Ser1503=) rs2103783053
NM_001378454.1(ALMS1):c.451-10A>C
NM_001378454.1(ALMS1):c.451-12A>T
NM_001378454.1(ALMS1):c.451-14dup
NM_001378454.1(ALMS1):c.451-17C>T
NM_001378454.1(ALMS1):c.451-2A>G
NM_001378454.1(ALMS1):c.451-5T>C rs774098604
NM_001378454.1(ALMS1):c.4515T>C (p.Ala1505=) rs941586130
NM_001378454.1(ALMS1):c.4527T>C (p.Val1509=) rs2103783089
NM_001378454.1(ALMS1):c.4535C>G (p.Thr1512Arg)
NM_001378454.1(ALMS1):c.4542C>G (p.Gly1514=)
NM_001378454.1(ALMS1):c.4542C>T (p.Gly1514=) rs763511170
NM_001378454.1(ALMS1):c.4545A>G (p.Ala1515=) rs1248066457
NM_001378454.1(ALMS1):c.4546C>A (p.Pro1516Thr)
NM_001378454.1(ALMS1):c.4549A>G (p.Thr1517Ala) rs1572935497
NM_001378454.1(ALMS1):c.4551T>C (p.Thr1517=)
NM_001378454.1(ALMS1):c.4552A>C (p.Ile1518Leu)
NM_001378454.1(ALMS1):c.4554A>G (p.Ile1518Met)
NM_001378454.1(ALMS1):c.4557C>T (p.Thr1519=)
NM_001378454.1(ALMS1):c.4558T>G (p.Ser1520Ala)
NM_001378454.1(ALMS1):c.4565C>G (p.Ser1522Cys) rs1060500036
NM_001378454.1(ALMS1):c.4566C>T (p.Ser1522=) rs2103783250
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.4587G>A (p.Lys1529=) rs768094497
NM_001378454.1(ALMS1):c.4593C>G (p.Gly1531=)
NM_001378454.1(ALMS1):c.4599C>A (p.Phe1533Leu)
NM_001378454.1(ALMS1):c.4601A>G (p.Tyr1534Cys) rs751003573
NM_001378454.1(ALMS1):c.4602C>T (p.Tyr1534=) rs1671928123
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.4626A>G (p.Gln1542=) rs201603580
NM_001378454.1(ALMS1):c.462T>C (p.Ser154=) rs1671236853
NM_001378454.1(ALMS1):c.4638G>A (p.Glu1546=) rs2103783427
NM_001378454.1(ALMS1):c.4639G>A (p.Ala1547Thr)
NM_001378454.1(ALMS1):c.4641T>A (p.Ala1547=)
NM_001378454.1(ALMS1):c.4642C>T (p.Leu1548Phe) rs2103783451
NM_001378454.1(ALMS1):c.4644C>T (p.Leu1548=)
NM_001378454.1(ALMS1):c.4647A>G (p.Arg1549=) rs564445910
NM_001378454.1(ALMS1):c.4651T>G (p.Ser1551Ala)
NM_001378454.1(ALMS1):c.4659T>G (p.Ala1553=) rs1191872718
NM_001378454.1(ALMS1):c.4662_4663delinsAT (p.Gly1555Ter)
NM_001378454.1(ALMS1):c.4667C>T (p.Pro1556Leu)
NM_001378454.1(ALMS1):c.4668A>G (p.Pro1556=)
NM_001378454.1(ALMS1):c.4678A>G (p.Thr1560Ala) rs1558649606
NM_001378454.1(ALMS1):c.4683T>A (p.Thr1561=) rs2103783628
NM_001378454.1(ALMS1):c.4684G>A (p.Gly1562Ser) rs1671930409
NM_001378454.1(ALMS1):c.468T>C (p.His156=)
NM_001378454.1(ALMS1):c.4695C>G (p.Thr1565=) rs2103783674
NM_001378454.1(ALMS1):c.46G>T (p.Glu16Ter)
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.4701C>T (p.Thr1567=) rs1301217256
NM_001378454.1(ALMS1):c.4713C>T (p.Tyr1571=) rs2103783750
NM_001378454.1(ALMS1):c.4714T>G (p.Ser1572Ala) rs2103783756
NM_001378454.1(ALMS1):c.4715C>G (p.Ser1572Ter) rs2103783763
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.4721del (p.Gly1574fs) rs2103783797
NM_001378454.1(ALMS1):c.472C>T (p.Leu158Phe)
NM_001378454.1(ALMS1):c.4730C>T (p.Pro1577Leu)
NM_001378454.1(ALMS1):c.4731G>T (p.Pro1577=) rs747216050
NM_001378454.1(ALMS1):c.4733T>C (p.Ile1578Thr) rs2103783837
NM_001378454.1(ALMS1):c.4742A>G (p.Tyr1581Cys)
NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter) rs1572935708
NM_001378454.1(ALMS1):c.4749G>A (p.Gln1583=) rs749067384
NM_001378454.1(ALMS1):c.4749G>T (p.Gln1583His) rs749067384
NM_001378454.1(ALMS1):c.4751C>G (p.Ala1584Gly)
NM_001378454.1(ALMS1):c.4755T>C (p.Phe1585=)
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.4770A>T (p.Leu1590=) rs772781647
NM_001378454.1(ALMS1):c.4778A>G (p.Glu1593Gly)
NM_001378454.1(ALMS1):c.4779G>A (p.Glu1593=)
NM_001378454.1(ALMS1):c.477T>A (p.Pro159=) rs2103701270
NM_001378454.1(ALMS1):c.478C>T (p.Gln160Ter)
NM_001378454.1(ALMS1):c.4805G>A (p.Gly1602Glu)
NM_001378454.1(ALMS1):c.4809T>C (p.Pro1603=) rs2103784041
NM_001378454.1(ALMS1):c.4812T>G (p.Thr1604=)
NM_001378454.1(ALMS1):c.4815A>G (p.Glu1605=) rs1671934084
NM_001378454.1(ALMS1):c.4820del (p.Lys1607fs) rs758098717
NM_001378454.1(ALMS1):c.4820dup (p.Thr1608fs) rs758098717
NM_001378454.1(ALMS1):c.4828A>G (p.Ile1610Val)
NM_001378454.1(ALMS1):c.4831C>G (p.Pro1611Ala) rs935791709
NM_001378454.1(ALMS1):c.4833A>C (p.Pro1611=)
NM_001378454.1(ALMS1):c.4835C>T (p.Ala1612Val)
NM_001378454.1(ALMS1):c.4836A>G (p.Ala1612=)
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.4848T>C (p.Gly1616=)
NM_001378454.1(ALMS1):c.4852A>G (p.Ser1618Gly) rs2103784176
NM_001378454.1(ALMS1):c.4860T>C (p.Leu1620=) rs1307202712
NM_001378454.1(ALMS1):c.4860T>G (p.Leu1620=) rs1307202712
NM_001378454.1(ALMS1):c.4864G>C (p.Glu1622Gln)
NM_001378454.1(ALMS1):c.4869G>A (p.Lys1623=) rs2103784240
NM_001378454.1(ALMS1):c.486G>T (p.Met162Ile) rs1671237621
NM_001378454.1(ALMS1):c.4873A>G (p.Ile1625Val)
NM_001378454.1(ALMS1):c.4878T>A (p.Thr1626=) rs2103784269
NM_001378454.1(ALMS1):c.4879T>A (p.Phe1627Ile)
NM_001378454.1(ALMS1):c.4881C>T (p.Phe1627=) rs983255370
NM_001378454.1(ALMS1):c.4884C>T (p.Tyr1628=)
NM_001378454.1(ALMS1):c.4887G>T (p.Arg1629=)
NM_001378454.1(ALMS1):c.4893T>C (p.Ala1631=) rs2103784349
NM_001378454.1(ALMS1):c.4899A>G (p.Leu1633=) rs1060503816
NM_001378454.1(ALMS1):c.4902C>T (p.Asp1634=) rs1553403951
NM_001378454.1(ALMS1):c.4905T>C (p.Ser1635=) rs2103784392
NM_001378454.1(ALMS1):c.4909C>T (p.Leu1637=)
NM_001378454.1(ALMS1):c.4914_4917del (p.Asn1638fs) rs779366889
NM_001378454.1(ALMS1):c.4916A>C (p.Lys1639Thr)
NM_001378454.1(ALMS1):c.4916_4919del (p.Lys1639fs) rs1439452693
NM_001378454.1(ALMS1):c.4920G>A (p.Glu1640=) rs1572935943
NM_001378454.1(ALMS1):c.4922T>A (p.Val1641Asp)
NM_001378454.1(ALMS1):c.4923_4925del (p.Val1642del)
NM_001378454.1(ALMS1):c.4929A>G (p.Lys1643=) rs1671937732
NM_001378454.1(ALMS1):c.492T>C (p.Ser164=) rs1671237785
NM_001378454.1(ALMS1):c.4934C>A (p.Ser1645Ter) rs774594040
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.4941T>C (p.Ala1647=)
NM_001378454.1(ALMS1):c.4942C>T (p.Pro1648Ser)
NM_001378454.1(ALMS1):c.4944T>C (p.Pro1648=)
NM_001378454.1(ALMS1):c.4947A>G (p.Gly1649=)
NM_001378454.1(ALMS1):c.4952C>T (p.Ala1651Val)
NM_001378454.1(ALMS1):c.495C>T (p.Ser165=) rs2103701334
NM_001378454.1(ALMS1):c.496C>G (p.Gln166Glu) rs2103701341
NM_001378454.1(ALMS1):c.496C>T (p.Gln166Ter)
NM_001378454.1(ALMS1):c.4971A>G (p.Thr1657=) rs780637359
NM_001378454.1(ALMS1):c.4980A>G (p.Val1660=) rs2103784707
NM_001378454.1(ALMS1):c.4982A>C (p.His1661Pro)
NM_001378454.1(ALMS1):c.4987A>C (p.Thr1663Pro)
NM_001378454.1(ALMS1):c.4989T>C (p.Thr1663=) rs774538998
NM_001378454.1(ALMS1):c.4999A>T (p.Asn1667Tyr)
NM_001378454.1(ALMS1):c.4G>T (p.Glu2Ter)
NM_001378454.1(ALMS1):c.5001T>C (p.Asn1667=)
NM_001378454.1(ALMS1):c.5002A>G (p.Arg1668Gly) rs2103784813
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs) rs1572936092
NM_001378454.1(ALMS1):c.5004G>A (p.Arg1668=) rs1432669722
NM_001378454.1(ALMS1):c.5004G>T (p.Arg1668Ser)
NM_001378454.1(ALMS1):c.5005G>A (p.Gly1669Arg)
NM_001378454.1(ALMS1):c.5007G>A (p.Gly1669=) rs2103784845
NM_001378454.1(ALMS1):c.5016C>A (p.Val1672=) rs2103784862
NM_001378454.1(ALMS1):c.501C>T (p.Thr167=)
NM_001378454.1(ALMS1):c.5021del (p.Phe1674fs)
NM_001378454.1(ALMS1):c.5025C>G (p.Tyr1675Ter)
NM_001378454.1(ALMS1):c.5025C>T (p.Tyr1675=) rs2103784887
NM_001378454.1(ALMS1):c.5027A>G (p.Gln1676Arg)
NM_001378454.1(ALMS1):c.5034C>A (p.Thr1678=)
NM_001378454.1(ALMS1):c.5034C>T (p.Thr1678=)
NM_001378454.1(ALMS1):c.5035C>T (p.Leu1679=) rs760829019
NM_001378454.1(ALMS1):c.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.5058A>G (p.Glu1686=) rs2103784966
NM_001378454.1(ALMS1):c.5075C>T (p.Pro1692Leu)
NM_001378454.1(ALMS1):c.507T>C (p.Asp169=)
NM_001378454.1(ALMS1):c.5087G>A (p.Gly1696Glu)
NM_001378454.1(ALMS1):c.5088A>C (p.Gly1696=) rs2103785042
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.5097C>G (p.Ala1699=) rs1671942002
NM_001378454.1(ALMS1):c.50_51insAGAGGA (p.Glu27_Glu28dup) rs1491245339
NM_001378454.1(ALMS1):c.510A>C (p.Thr170=) rs2103701377
NM_001378454.1(ALMS1):c.5111C>T (p.Thr1704Ile) rs755683870
NM_001378454.1(ALMS1):c.5114C>T (p.Pro1705Leu)
NM_001378454.1(ALMS1):c.5115A>G (p.Pro1705=) rs2103785134
NM_001378454.1(ALMS1):c.5125T>G (p.Ser1709Ala)
NM_001378454.1(ALMS1):c.5127T>C (p.Ser1709=)
NM_001378454.1(ALMS1):c.5129G>C (p.Ser1710Thr) rs1671942849
NM_001378454.1(ALMS1):c.5132T>G (p.Leu1711Ter)
NM_001378454.1(ALMS1):c.5133A>G (p.Leu1711=) rs2103785199
NM_001378454.1(ALMS1):c.5136C>T (p.Tyr1712=)
NM_001378454.1(ALMS1):c.5139A>G (p.Ser1713=)
NM_001378454.1(ALMS1):c.513C>T (p.Ser171=)
NM_001378454.1(ALMS1):c.5140T>G (p.Tyr1714Asp)
NM_001378454.1(ALMS1):c.5142T>C (p.Tyr1714=) rs772136379
NM_001378454.1(ALMS1):c.5151G>A (p.Lys1717=)
NM_001378454.1(ALMS1):c.5160C>T (p.Val1720=)
NM_001378454.1(ALMS1):c.5164T>C (p.Tyr1722His)
NM_001378454.1(ALMS1):c.5165A>T (p.Tyr1722Phe)
NM_001378454.1(ALMS1):c.5166C>T (p.Tyr1722=)
NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs) rs748709116
NM_001378454.1(ALMS1):c.5173G>A (p.Ala1725Thr) rs763052163
NM_001378454.1(ALMS1):c.5176C>T (p.Leu1726=) rs373864798
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs) rs1553404020
NM_001378454.1(ALMS1):c.5178G>A (p.Leu1726=) rs2103785373
NM_001378454.1(ALMS1):c.5178G>T (p.Leu1726=) rs2103785373
NM_001378454.1(ALMS1):c.517A>G (p.Thr173Ala)
NM_001378454.1(ALMS1):c.5180C>T (p.Pro1727Leu)
NM_001378454.1(ALMS1):c.5181A>G (p.Pro1727=) rs2103785406
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.5193A>G (p.Leu1731=)
NM_001378454.1(ALMS1):c.5197C>G (p.Gln1733Glu)
NM_001378454.1(ALMS1):c.5197C>T (p.Gln1733Ter) rs750136202
NM_001378454.1(ALMS1):c.5198AAG[1] (p.Glu1734del) rs1553404031
NM_001378454.1(ALMS1):c.5198_5199del (p.Gln1733fs)
NM_001378454.1(ALMS1):c.519T>C (p.Thr173=) rs749270228
NM_001378454.1(ALMS1):c.519T>G (p.Thr173=) rs749270228
NM_001378454.1(ALMS1):c.51G>A (p.Glu17=) rs1553396127
NM_001378454.1(ALMS1):c.5203G>C (p.Ala1735Pro)
NM_001378454.1(ALMS1):c.5206C>T (p.Leu1736=)
NM_001378454.1(ALMS1):c.5208G>C (p.Leu1736=) rs755418143
NM_001378454.1(ALMS1):c.5209A>G (p.Lys1737Glu) rs2103785554
NM_001378454.1(ALMS1):c.5215del (p.Ser1739fs) rs1195572987
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.5226T>C (p.Pro1742=)
NM_001378454.1(ALMS1):c.5229A>G (p.Gln1743=)
NM_001378454.1(ALMS1):c.5232A>G (p.Pro1744=)
NM_001378454.1(ALMS1):c.5235T>C (p.Ala1745=)
NM_001378454.1(ALMS1):c.5243A>G (p.Lys1748Arg)
NM_001378454.1(ALMS1):c.5247T>G (p.Thr1749=) rs1271339315
NM_001378454.1(ALMS1):c.5251_5391del (p.Leu1751_Gly1797del) rs2103785632
NM_001378454.1(ALMS1):c.5256T>A (p.Ser1752=) rs2103785711
NM_001378454.1(ALMS1):c.5260dup (p.Val1754fs)
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.5274del (p.Tyr1759fs) rs2103785778
NM_001378454.1(ALMS1):c.5277T>G (p.Tyr1759Ter)
NM_001378454.1(ALMS1):c.5280A>G (p.Ser1760=) rs1671947018
NM_001378454.1(ALMS1):c.5280del (p.His1761fs) rs2103785835
NM_001378454.1(ALMS1):c.5284A>G (p.Thr1762Ala)
NM_001378454.1(ALMS1):c.528T>A (p.Asn176Lys)
NM_001378454.1(ALMS1):c.528T>C (p.Asn176=)
NM_001378454.1(ALMS1):c.5292G>A (p.Lys1764=) rs1393538628
NM_001378454.1(ALMS1):c.5294C>G (p.Pro1765Arg) rs1328622266
NM_001378454.1(ALMS1):c.5295T>C (p.Pro1765=) rs1671947534
NM_001378454.1(ALMS1):c.5298T>C (p.Asn1766=) rs1320062396
NM_001378454.1(ALMS1):c.5304T>C (p.Ser1768=) rs753295349
NM_001378454.1(ALMS1):c.5307C>A (p.Tyr1769Ter) rs758678450
NM_001378454.1(ALMS1):c.5307C>G (p.Tyr1769Ter)
NM_001378454.1(ALMS1):c.5307C>T (p.Tyr1769=)
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.5313A>G (p.Gln1771=)
NM_001378454.1(ALMS1):c.5314G>C (p.Glu1772Gln) rs2103786011
NM_001378454.1(ALMS1):c.5317T>C (p.Leu1773=)
NM_001378454.1(ALMS1):c.5318T>A (p.Leu1773Ter) rs2103786025
NM_001378454.1(ALMS1):c.531G>A (p.Val177=)
NM_001378454.1(ALMS1):c.5320C>T (p.Pro1774Ser) rs2103786033
NM_001378454.1(ALMS1):c.5322A>G (p.Pro1774=)
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.5331T>C (p.His1777=) rs770037382
NM_001378454.1(ALMS1):c.5332C>T (p.Leu1778=) rs559383661
NM_001378454.1(ALMS1):c.5340A>G (p.Glu1780=) rs2103786116
NM_001378454.1(ALMS1):c.5345C>T (p.Ala1782Val)
NM_001378454.1(ALMS1):c.5350A>G (p.Lys1784Glu)
NM_001378454.1(ALMS1):c.5350A>T (p.Lys1784Ter)
NM_001378454.1(ALMS1):c.5352A>G (p.Lys1784=) rs1409359077
NM_001378454.1(ALMS1):c.5364T>C (p.Val1788=) rs2103786225
NM_001378454.1(ALMS1):c.5365C>T (p.Pro1789Ser) rs1479555928
NM_001378454.1(ALMS1):c.5369G>T (p.Gly1790Val)
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile) rs1131691296
NM_001378454.1(ALMS1):c.5379C>T (p.Asp1793=)
NM_001378454.1(ALMS1):c.5381A>G (p.Gln1794Arg)
NM_001378454.1(ALMS1):c.5386A>G (p.Thr1796Ala)
NM_001378454.1(ALMS1):c.5388T>G (p.Thr1796=)
NM_001378454.1(ALMS1):c.538_541dup (p.Asp181fs)
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.5394A>G (p.Val1798=) rs1269563462
NM_001378454.1(ALMS1):c.5396C>G (p.Ser1799Ter)
NM_001378454.1(ALMS1):c.539_542dup (p.Asp181fs)
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.5415C>G (p.Ser1805=)
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.5430_5431del (p.Lys1811fs)
NM_001378454.1(ALMS1):c.5436C>T (p.Pro1812=) rs2103786498
NM_001378454.1(ALMS1):c.543T>C (p.Asp181=)
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.5451G>A (p.Gln1817=)
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.5462del (p.Pro1821fs) rs770264966
NM_001378454.1(ALMS1):c.5464C>T (p.His1822Tyr)
NM_001378454.1(ALMS1):c.5478A>T (p.Ala1826=)
NM_001378454.1(ALMS1):c.547G>T (p.Glu183Ter) rs1671239143
NM_001378454.1(ALMS1):c.5480G>C (p.Gly1827Ala)
NM_001378454.1(ALMS1):c.5482T>C (p.Leu1828=) rs2103786711
NM_001378454.1(ALMS1):c.5484G>A (p.Leu1828=) rs376996058
NM_001378454.1(ALMS1):c.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.5496A>G (p.Arg1832=) rs1572936704
NM_001378454.1(ALMS1):c.5499T>A (p.Val1833=)
NM_001378454.1(ALMS1):c.5501del (p.Pro1834fs)
NM_001378454.1(ALMS1):c.5502T>C (p.Pro1834=)
NM_001378454.1(ALMS1):c.5510_5512del (p.Ala1837del) rs2103786773
NM_001378454.1(ALMS1):c.5511T>C (p.Ala1837=)
NM_001378454.1(ALMS1):c.5514C>T (p.Asp1838=)
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.5541C>G (p.Pro1847=) rs1389209265
NM_001378454.1(ALMS1):c.5541C>T (p.Pro1847=)
NM_001378454.1(ALMS1):c.554_555del (p.Thr185fs)
NM_001378454.1(ALMS1):c.5556A>C (p.Pro1852=)
NM_001378454.1(ALMS1):c.5566C>T (p.His1856Tyr)
NM_001378454.1(ALMS1):c.5571T>G (p.Ser1857=) rs1268193702
NM_001378454.1(ALMS1):c.5571dup (p.Val1858fs)
NM_001378454.1(ALMS1):c.5574C>G (p.Val1858=) rs770709146
NM_001378454.1(ALMS1):c.5574C>T (p.Val1858=) rs770709146
NM_001378454.1(ALMS1):c.5582A>G (p.Tyr1861Cys) rs556743491
NM_001378454.1(ALMS1):c.5583T>A (p.Tyr1861Ter)
NM_001378454.1(ALMS1):c.5583T>C (p.Tyr1861=)
NM_001378454.1(ALMS1):c.5587C>T (p.Gln1863Ter) rs769440001
NM_001378454.1(ALMS1):c.5593T>C (p.Leu1865=) rs775039046
NM_001378454.1(ALMS1):c.5595G>A (p.Leu1865=) rs2103787065
NM_001378454.1(ALMS1):c.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.5606_5612del (p.Thr1869fs)
NM_001378454.1(ALMS1):c.560dup (p.Ser189fs) rs1439541639
NM_001378454.1(ALMS1):c.5612T>G (p.Val1871Gly)
NM_001378454.1(ALMS1):c.5620A>T (p.Lys1874Ter)
NM_001378454.1(ALMS1):c.5623G>A (p.Ala1875Thr) rs768147561
NM_001378454.1(ALMS1):c.5640G>A (p.Gly1880=)
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.564C>G (p.Pro188=)
NM_001378454.1(ALMS1):c.564del (p.Ser189fs)
NM_001378454.1(ALMS1):c.5655G>A (p.Lys1885=) rs2103787253
NM_001378454.1(ALMS1):c.5655_6063del (p.Lys1885_Thr1886insTer) rs2103787249
NM_001378454.1(ALMS1):c.5658T>C (p.Thr1886=) rs1019893311
NM_001378454.1(ALMS1):c.5661G>A (p.Gly1887=)
NM_001378454.1(ALMS1):c.566C>T (p.Ser189Phe)
NM_001378454.1(ALMS1):c.5673A>C (p.Ala1891=) rs1572936907
NM_001378454.1(ALMS1):c.5673A>T (p.Ala1891=) rs1572936907
NM_001378454.1(ALMS1):c.5676C>A (p.Ser1892=)
NM_001378454.1(ALMS1):c.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.5694T>C (p.Asn1898=) rs1317035563
NM_001378454.1(ALMS1):c.5698G>A (p.Glu1900Lys)
NM_001378454.1(ALMS1):c.5698_5701del (p.Glu1900fs) rs1558650438
NM_001378454.1(ALMS1):c.5704G>A (p.Ala1902Thr) rs1254278225
NM_001378454.1(ALMS1):c.5706C>G (p.Ala1902=)
NM_001378454.1(ALMS1):c.5706del (p.Ser1903fs)
NM_001378454.1(ALMS1):c.5709T>C (p.Ser1903=)
NM_001378454.1(ALMS1):c.5712T>A (p.Ile1904=)
NM_001378454.1(ALMS1):c.5714T>G (p.Phe1905Cys) rs1553404125
NM_001378454.1(ALMS1):c.5715T>C (p.Phe1905=) rs1386434113
NM_001378454.1(ALMS1):c.571G>T (p.Glu191Ter) rs765553310
NM_001378454.1(ALMS1):c.5720A>G (p.Gln1907Arg)
NM_001378454.1(ALMS1):c.5722C>T (p.Gln1908Ter)
NM_001378454.1(ALMS1):c.5732C>T (p.Pro1911Leu) rs1671960359
NM_001378454.1(ALMS1):c.5732del (p.Pro1911fs) rs763048583
NM_001378454.1(ALMS1):c.5733A>G (p.Pro1911=)
NM_001378454.1(ALMS1):c.5741C>T (p.Thr1914Ile)
NM_001378454.1(ALMS1):c.5742T>A (p.Thr1914=) rs2103787524
NM_001378454.1(ALMS1):c.5742T>C (p.Thr1914=)
NM_001378454.1(ALMS1):c.5746G>T (p.Glu1916Ter)
NM_001378454.1(ALMS1):c.574G>A (p.Glu192Lys)
NM_001378454.1(ALMS1):c.5750_5753del (p.Ala1917fs) rs2103787540
NM_001378454.1(ALMS1):c.5752T>C (p.Leu1918=)
NM_001378454.1(ALMS1):c.5757T>C (p.Asn1919=)
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.5787G>A (p.Arg1929=) rs2103787695
NM_001378454.1(ALMS1):c.5787del (p.Lys1930fs)
NM_001378454.1(ALMS1):c.5790G>A (p.Lys1930=)
NM_001378454.1(ALMS1):c.57G>A (p.Glu19=) rs866503570
NM_001378454.1(ALMS1):c.57_58insTAGGAG (p.Glu20Ter) rs1574423697
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.5808A>G (p.Val1936=) rs2103787767
NM_001378454.1(ALMS1):c.5809C>G (p.Pro1937Ala)
NM_001378454.1(ALMS1):c.5811T>C (p.Pro1937=)
NM_001378454.1(ALMS1):c.5812T>C (p.Leu1938=)
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.5820C>T (p.Tyr1940=) rs2103787800
NM_001378454.1(ALMS1):c.5821dup (p.Tyr1941fs) rs2103787808
NM_001378454.1(ALMS1):c.5822A>G (p.Tyr1941Cys) rs374676136
NM_001378454.1(ALMS1):c.5823C>T (p.Tyr1941=) rs1174994694
NM_001378454.1(ALMS1):c.5825C>G (p.Ser1942Ter)
NM_001378454.1(ALMS1):c.5826A>T (p.Ser1942=)
NM_001378454.1(ALMS1):c.5826dup (p.Arg1943fs)
NM_001378454.1(ALMS1):c.5827C>A (p.Arg1943Ser) rs370398704
NM_001378454.1(ALMS1):c.5828G>A (p.Arg1943His) rs146669152
NM_001378454.1(ALMS1):c.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.5838G>A (p.Lys1946=)
NM_001378454.1(ALMS1):c.583T>C (p.Leu195=) rs777906149
NM_001378454.1(ALMS1):c.5841C>G (p.Pro1947=)
NM_001378454.1(ALMS1):c.5841C>T (p.Pro1947=) rs1558650547
NM_001378454.1(ALMS1):c.5843G>T (p.Ser1948Ile) rs1300252739
NM_001378454.1(ALMS1):c.5848A>G (p.Ile1950Val) rs140062566
NM_001378454.1(ALMS1):c.5853_5854del (p.Gln1952fs) rs2103787916
NM_001378454.1(ALMS1):c.5854C>T (p.Gln1952Ter)
NM_001378454.1(ALMS1):c.5867C>A (p.Pro1956Gln) rs1671963819
NM_001378454.1(ALMS1):c.5868A>G (p.Pro1956=)
NM_001378454.1(ALMS1):c.586del (p.Thr196fs) rs2103701730
NM_001378454.1(ALMS1):c.5870A>G (p.Asp1957Gly) rs1464393698
NM_001378454.1(ALMS1):c.5871C>T (p.Asp1957=) rs747535416
NM_001378454.1(ALMS1):c.5877T>A (p.His1959Gln)
NM_001378454.1(ALMS1):c.5881A>T (p.Thr1961Ser) rs1249655262
NM_001378454.1(ALMS1):c.5887G>T (p.Glu1963Ter)
NM_001378454.1(ALMS1):c.5889G>A (p.Glu1963=) rs2103788040
NM_001378454.1(ALMS1):c.5894T>G (p.Leu1965Arg)
NM_001378454.1(ALMS1):c.5896A>T (p.Lys1966Ter)
NM_001378454.1(ALMS1):c.589C>T (p.Gln197Ter) rs1671240457
NM_001378454.1(ALMS1):c.58G>A (p.Glu20Lys)
NM_001378454.1(ALMS1):c.5902dup (p.Ser1968fs)
NM_001378454.1(ALMS1):c.5904A>C (p.Ser1968=) rs1050193710
NM_001378454.1(ALMS1):c.5904A>G (p.Ser1968=)
NM_001378454.1(ALMS1):c.5904_5912del (p.Pro1969_Ser1971del) rs1060500042
NM_001378454.1(ALMS1):c.5913T>C (p.Ser1971=)
NM_001378454.1(ALMS1):c.5915del (p.Ile1972fs)
NM_001378454.1(ALMS1):c.5917C>T (p.Pro1973Ser)
NM_001378454.1(ALMS1):c.5919A>G (p.Pro1973=) rs755966607
NM_001378454.1(ALMS1):c.591A>C (p.Gln197His)
NM_001378454.1(ALMS1):c.5922A>G (p.Ala1974=)
NM_001378454.1(ALMS1):c.5923del (p.Glu1975fs) rs398122994
NM_001378454.1(ALMS1):c.5925G>A (p.Glu1975=) rs2103788193
NM_001378454.1(ALMS1):c.5931G>T (p.Lys1977Asn)
NM_001378454.1(ALMS1):c.5935G>A (p.Gly1979Arg) rs1671966142
NM_001378454.1(ALMS1):c.5944A>G (p.Ile1982Val)
NM_001378454.1(ALMS1):c.5951dup (p.Ser1985fs)
NM_001378454.1(ALMS1):c.5952G>A (p.Leu1984=)
NM_001378454.1(ALMS1):c.5952G>T (p.Leu1984=) rs2103788277
NM_001378454.1(ALMS1):c.5952_5954del (p.Ser1987del)
NM_001378454.1(ALMS1):c.5955T>C (p.Ser1985=) rs2103788292
NM_001378454.1(ALMS1):c.5956_5957delinsGT (p.Ser1986Val) rs2103788302
NM_001378454.1(ALMS1):c.595G>T (p.Glu199Ter)
NM_001378454.1(ALMS1):c.5963A>G (p.Tyr1988Cys) rs757977017
NM_001378454.1(ALMS1):c.5964C>T (p.Tyr1988=) rs2103788334
NM_001378454.1(ALMS1):c.5966C>A (p.Ser1989Ter) rs777080769
NM_001378454.1(ALMS1):c.5967A>G (p.Ser1989=)
NM_001378454.1(ALMS1):c.5968C>T (p.His1990Tyr)
NM_001378454.1(ALMS1):c.596A>G (p.Glu199Gly) rs1553399974
NM_001378454.1(ALMS1):c.5973A>G (p.Ser1991=)
NM_001378454.1(ALMS1):c.5976T>G (p.His1992Gln) rs2103788393
NM_001378454.1(ALMS1):c.5978_5979del (p.Lys1993fs) rs1553404180
NM_001378454.1(ALMS1):c.5979A>G (p.Lys1993=) rs2103788409
NM_001378454.1(ALMS1):c.5988C>G (p.Leu1996=)
NM_001378454.1(ALMS1):c.5994T>A (p.Ile1998=) rs774242715
NM_001378454.1(ALMS1):c.6000T>C (p.Thr2000=) rs2103788462
NM_001378454.1(ALMS1):c.6003G>T (p.Val2001=) rs765190182
NM_001378454.1(ALMS1):c.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.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.6042T>C (p.Ala2014=)
NM_001378454.1(ALMS1):c.6045C>A (p.Thr2015=)
NM_001378454.1(ALMS1):c.6054C>G (p.Ser2018=) rs2103788731
NM_001378454.1(ALMS1):c.6056A>G (p.Tyr2019Cys)
NM_001378454.1(ALMS1):c.6061C>T (p.Gln2021Ter)
NM_001378454.1(ALMS1):c.6066A>G (p.Ile2022Met) rs780333829
NM_001378454.1(ALMS1):c.6075C>A (p.Pro2025=) rs2103788790
NM_001378454.1(ALMS1):c.6085A>T (p.Thr2029Ser) rs759478895
NM_001378454.1(ALMS1):c.608A>G (p.Lys203Arg)
NM_001378454.1(ALMS1):c.6090G>A (p.Val2030=)
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.6094G>T (p.Gly2032Ter) rs1671971419
NM_001378454.1(ALMS1):c.6099A>G (p.Pro2033=)
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.6117A>G (p.Pro2039=) rs2103788937
NM_001378454.1(ALMS1):c.6120C>G (p.Ser2040=)
NM_001378454.1(ALMS1):c.6121del (p.Gln2041fs) rs1671971721
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.6143A>C (p.Tyr2048Ser) rs201162418
NM_001378454.1(ALMS1):c.6147T>C (p.Ser2049=)
NM_001378454.1(ALMS1):c.6151A>G (p.Thr2051Ala) rs2103789073
NM_001378454.1(ALMS1):c.6152C>T (p.Thr2051Ile)
NM_001378454.1(ALMS1):c.6153A>G (p.Thr2051=) rs1671972805
NM_001378454.1(ALMS1):c.6156A>C (p.Val2052=)
NM_001378454.1(ALMS1):c.6156A>G (p.Val2052=)
NM_001378454.1(ALMS1):c.6158A>T (p.Lys2053Met)
NM_001378454.1(ALMS1):c.615C>G (p.Pro205=) rs2103701886
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.6166_6167dup (p.Leu2057fs) rs759603306
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.6180G>A (p.Gln2060=) rs2103789211
NM_001378454.1(ALMS1):c.6182A>T (p.Gln2061Leu)
NM_001378454.1(ALMS1):c.6183G>A (p.Gln2061=) rs200041852
NM_001378454.1(ALMS1):c.6183G>T (p.Gln2061His)
NM_001378454.1(ALMS1):c.6189A>G (p.Pro2063=)
NM_001378454.1(ALMS1):c.6192T>A (p.Asp2064Glu)
NM_001378454.1(ALMS1):c.6192T>C (p.Asp2064=) rs1357962379
NM_001378454.1(ALMS1):c.6194G>A (p.Arg2065Lys) rs2103789247
NM_001378454.1(ALMS1):c.61del (p.Glu21fs) rs753006733
NM_001378454.1(ALMS1):c.6204_6208del (p.Ser2068fs) rs1671974033
NM_001378454.1(ALMS1):c.6209G>T (p.Gly2070Val)
NM_001378454.1(ALMS1):c.6211A>G (p.Ile2071Val) rs1020163869
NM_001378454.1(ALMS1):c.6213T>C (p.Ile2071=) rs1671974435
NM_001378454.1(ALMS1):c.6215T>C (p.Leu2072Pro) rs1382952433
NM_001378454.1(ALMS1):c.6216A>C (p.Leu2072=)
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.622_623del (p.Asp208fs)
NM_001378454.1(ALMS1):c.6231C>T (p.Val2077=) rs748449043
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.6237A>G (p.Glu2079=)
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.6261A>G (p.Lys2087=) rs2103789480
NM_001378454.1(ALMS1):c.6263del (p.Pro2088fs)
NM_001378454.1(ALMS1):c.6264A>T (p.Pro2088=)
NM_001378454.1(ALMS1):c.6267A>G (p.Val2089=) rs1357847945
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.6279T>C (p.Ser2093=) rs1572937640
NM_001378454.1(ALMS1):c.627C>T (p.Leu209=)
NM_001378454.1(ALMS1):c.6291C>T (p.His2097=)
NM_001378454.1(ALMS1):c.6292A>G (p.Arg2098Gly)
NM_001378454.1(ALMS1):c.6296_6301del (p.Glu2099_Ser2101delinsAla)
NM_001378454.1(ALMS1):c.6300A>G (p.Lys2100=)
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter) rs28730854
NM_001378454.1(ALMS1):c.6302C>G (p.Ser2101Trp) rs28730854
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu) rs28730854
NM_001378454.1(ALMS1):c.6303G>T (p.Ser2101=)
NM_001378454.1(ALMS1):c.6317C>T (p.Pro2106Leu)
NM_001378454.1(ALMS1):c.6319C>T (p.Gln2107Ter)
NM_001378454.1(ALMS1):c.6320A>G (p.Gln2107Arg)
NM_001378454.1(ALMS1):c.6323A>G (p.Glu2108Gly)
NM_001378454.1(ALMS1):c.6327G>A (p.Leu2109=)
NM_001378454.1(ALMS1):c.6328C>T (p.Pro2110Ser) rs1243321319
NM_001378454.1(ALMS1):c.632G>C (p.Cys211Ser)
NM_001378454.1(ALMS1):c.6336T>C (p.Ser2112=)
NM_001378454.1(ALMS1):c.633T>C (p.Cys211=) rs2103701981
NM_001378454.1(ALMS1):c.6343dup (p.Thr2115fs)
NM_001378454.1(ALMS1):c.6354G>C (p.Val2118=)
NM_001378454.1(ALMS1):c.6355C>T (p.Leu2119=)
NM_001378454.1(ALMS1):c.635C>T (p.Ser212Phe) rs2103701987
NM_001378454.1(ALMS1):c.6360G>A (p.Lys2120=) rs1671978064
NM_001378454.1(ALMS1):c.6361G>T (p.Val2121Phe)
NM_001378454.1(ALMS1):c.636T>C (p.Ser212=)
NM_001378454.1(ALMS1):c.6372del (p.Pro2125fs) rs1553404220
NM_001378454.1(ALMS1):c.6378A>G (p.Gly2126=) rs2103789892
NM_001378454.1(ALMS1):c.6378A>T (p.Gly2126=) rs2103789892
NM_001378454.1(ALMS1):c.6380C>T (p.Pro2127Leu) rs2103789910
NM_001378454.1(ALMS1):c.6381A>G (p.Pro2127=) rs1671978462
NM_001378454.1(ALMS1):c.638dup (p.Leu214fs) rs2103701996
NM_001378454.1(ALMS1):c.6396A>G (p.Thr2132=)
NM_001378454.1(ALMS1):c.6397G>T (p.Val2133Leu)
NM_001378454.1(ALMS1):c.6399A>T (p.Val2133=)
NM_001378454.1(ALMS1):c.639A>G (p.Pro213=) rs1370245923
NM_001378454.1(ALMS1):c.639A>T (p.Pro213=) rs1370245923
NM_001378454.1(ALMS1):c.63G>A (p.Glu21=) rs1004961829
NM_001378454.1(ALMS1):c.6405A>G (p.Pro2135=) rs2103789974
NM_001378454.1(ALMS1):c.6406_6408dup (p.Thr2136_Ala2137insThr)
NM_001378454.1(ALMS1):c.6409G>C (p.Ala2137Pro) rs2103789992
NM_001378454.1(ALMS1):c.640C>T (p.Leu214=)
NM_001378454.1(ALMS1):c.6419G>C (p.Ser2140Thr) rs1671979572
NM_001378454.1(ALMS1):c.6422C>T (p.Ser2141Phe)
NM_001378454.1(ALMS1):c.6423C>G (p.Ser2141=)
NM_001378454.1(ALMS1):c.6429A>G (p.Ser2143=) rs1165256588
NM_001378454.1(ALMS1):c.6433C>A (p.Arg2145=) rs770558150
NM_001378454.1(ALMS1):c.6433C>G (p.Arg2145Gly)
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter) rs770558150
NM_001378454.1(ALMS1):c.6447T>C (p.Asp2149=) rs765803796
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+10G>A rs1553399998
NM_001378454.1(ALMS1):c.646+11T>C
NM_001378454.1(ALMS1):c.646+13T>C
NM_001378454.1(ALMS1):c.646+20A>G
NM_001378454.1(ALMS1):c.646+2T>A rs1572911143
NM_001378454.1(ALMS1):c.646+2T>C rs1572911143
NM_001378454.1(ALMS1):c.646+3A>G rs1553399994
NM_001378454.1(ALMS1):c.646+7C>G
NM_001378454.1(ALMS1):c.646+8C>T rs760012033
NM_001378454.1(ALMS1):c.6462G>A (p.Lys2154=)
NM_001378454.1(ALMS1):c.6467T>A (p.Leu2156Ter) rs2103790206
NM_001378454.1(ALMS1):c.647-11A>C
NM_001378454.1(ALMS1):c.647-14T>G
NM_001378454.1(ALMS1):c.647-2A>T rs1671310097
NM_001378454.1(ALMS1):c.647-3C>T rs1671310064
NM_001378454.1(ALMS1):c.647-4A>G rs1553400427
NM_001378454.1(ALMS1):c.647-8C>T
NM_001378454.1(ALMS1):c.6472G>A (p.Asp2158Asn) rs545636120
NM_001378454.1(ALMS1):c.6474T>C (p.Asp2158=) rs2103790221
NM_001378454.1(ALMS1):c.6477A>G (p.Arg2159=)
NM_001378454.1(ALMS1):c.6479A>G (p.His2160Arg) rs781245006
NM_001378454.1(ALMS1):c.6479del (p.His2160fs)
NM_001378454.1(ALMS1):c.6481C>T (p.Leu2161=) rs2103790282
NM_001378454.1(ALMS1):c.6483_6486del (p.Thr2162fs) rs1553404252
NM_001378454.1(ALMS1):c.6498A>G (p.Leu2166=)
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.6504C>A (p.Ile2168=)
NM_001378454.1(ALMS1):c.650T>C (p.Ile217Thr)
NM_001378454.1(ALMS1):c.6513T>C (p.Ala2171=) rs1671982281
NM_001378454.1(ALMS1):c.6514C>T (p.Leu2172Phe)
NM_001378454.1(ALMS1):c.6519G>A (p.Gly2173=) rs2103790429
NM_001378454.1(ALMS1):c.6524C>T (p.Ala2175Val) rs549259627
NM_001378454.1(ALMS1):c.6525T>G (p.Ala2175=)
NM_001378454.1(ALMS1):c.6528dup (p.Gln2177fs) rs2103790479
NM_001378454.1(ALMS1):c.6534T>C (p.Ile2178=)
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.6538G>T (p.Gly2180Ter)
NM_001378454.1(ALMS1):c.653A>G (p.Gln218Arg)
NM_001378454.1(ALMS1):c.6541T>C (p.Leu2181=)
NM_001378454.1(ALMS1):c.6543A>G (p.Leu2181=) rs1553404267
NM_001378454.1(ALMS1):c.654A>G (p.Gln218=) rs546669517
NM_001378454.1(ALMS1):c.6550G>A (p.Val2184Ile)
NM_001378454.1(ALMS1):c.6560del (p.Gly2187fs)
NM_001378454.1(ALMS1):c.6561T>A (p.Gly2187=)
NM_001378454.1(ALMS1):c.6566A>G (p.Tyr2189Cys)
NM_001378454.1(ALMS1):c.6566dup (p.Tyr2189Ter)
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs) rs1034630858
NM_001378454.1(ALMS1):c.6572A>G (p.His2191Arg)
NM_001378454.1(ALMS1):c.6587A>G (p.Lys2196Arg) rs2103790737
NM_001378454.1(ALMS1):c.6587del (p.Lys2196fs) rs1553404283
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.6591T>A (p.Leu2197=)
NM_001378454.1(ALMS1):c.6597A>G (p.Ser2199=)
NM_001378454.1(ALMS1):c.659G>A (p.Ser220Asn) rs2103710395
NM_001378454.1(ALMS1):c.6603T>C (p.His2201=)
NM_001378454.1(ALMS1):c.6606C>A (p.Val2202=) rs2103790804
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.663T>C (p.Phe221=)
NM_001378454.1(ALMS1):c.6642C>T (p.Ser2214=)
NM_001378454.1(ALMS1):c.6645T>C (p.Ser2215=)
NM_001378454.1(ALMS1):c.6649A>G (p.Ser2217Gly)
NM_001378454.1(ALMS1):c.665C>T (p.Ala222Val)
NM_001378454.1(ALMS1):c.6663G>C (p.Val2221=)
NM_001378454.1(ALMS1):c.6668T>C (p.Leu2223Ser)
NM_001378454.1(ALMS1):c.6668_6669insTTTTTTTTTTTTTTTTNNNNNNNNNNGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCCAAATAATGTGCTTTT (p.Leu2223delinsPhePhePhePhePhePheXaaXaaXaaXaaArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgAlaLysTer) rs2103790992
NM_001378454.1(ALMS1):c.6679G>A (p.Ala2227Thr)
NM_001378454.1(ALMS1):c.6679G>C (p.Ala2227Pro) rs1671986679
NM_001378454.1(ALMS1):c.6681T>A (p.Ala2227=)
NM_001378454.1(ALMS1):c.6681T>C (p.Ala2227=) rs2103791063
NM_001378454.1(ALMS1):c.6683_6684del (p.Asp2228fs) rs2103791069
NM_001378454.1(ALMS1):c.6688A>G (p.Arg2230Gly)
NM_001378454.1(ALMS1):c.6688dup (p.Arg2230fs) rs2103791083
NM_001378454.1(ALMS1):c.6689G>C (p.Arg2230Thr) rs1671986841
NM_001378454.1(ALMS1):c.6690_6691del (p.Arg2230fs)
NM_001378454.1(ALMS1):c.6696A>C (p.Val2232=)
NM_001378454.1(ALMS1):c.66G>A (p.Glu22=) rs1574423753
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.6703A>T (p.Lys2235Ter)
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.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.6747C>A (p.Ile2249=) rs2103791280
NM_001378454.1(ALMS1):c.6766G>C (p.Ala2256Pro)
NM_001378454.1(ALMS1):c.6770A>G (p.Lys2257Arg)
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs) rs1553404310
NM_001378454.1(ALMS1):c.6775C>G (p.Leu2259Val) rs748833907
NM_001378454.1(ALMS1):c.6777T>C (p.Leu2259=)
NM_001378454.1(ALMS1):c.6787C>T (p.Arg2263Trp)
NM_001378454.1(ALMS1):c.6788G>A (p.Arg2263Gln)
NM_001378454.1(ALMS1):c.6796T>C (p.Leu2266=)
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.6813dup (p.Met2272fs) rs1671989236
NM_001378454.1(ALMS1):c.6816G>T (p.Met2272Ile) rs765233946
NM_001378454.1(ALMS1):c.6819A>G (p.Ala2273=) rs2103791525
NM_001378454.1(ALMS1):c.681T>C (p.Pro227=) rs2103710453
NM_001378454.1(ALMS1):c.6828A>G (p.Arg2276=)
NM_001378454.1(ALMS1):c.6829T>C (p.Cys2277Arg) rs1671989930
NM_001378454.1(ALMS1):c.6831C>G (p.Cys2277Trp) rs761713440
NM_001378454.1(ALMS1):c.6837del (p.Pro2280fs) rs1553404337
NM_001378454.1(ALMS1):c.6839del (p.Pro2280fs)
NM_001378454.1(ALMS1):c.6843T>C (p.Ala2281=)
NM_001378454.1(ALMS1):c.6846C>T (p.Pro2282=) rs2103791656
NM_001378454.1(ALMS1):c.6847dup (p.Leu2283fs) rs1558651349
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.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.6886C>T (p.Gln2296Ter) rs747355678
NM_001378454.1(ALMS1):c.6888A>G (p.Gln2296=)
NM_001378454.1(ALMS1):c.688A>G (p.Thr230Ala) rs2103710477
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs) rs1553404358
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_69insAGAGGA (p.Glu27_Glu28dup) rs756301830
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.6909C>T (p.Phe2303=) rs1229228880
NM_001378454.1(ALMS1):c.6916C>T (p.Pro2306Ser)
NM_001378454.1(ALMS1):c.6917C>G (p.Pro2306Arg)
NM_001378454.1(ALMS1):c.6918C>G (p.Pro2306=)
NM_001378454.1(ALMS1):c.6918C>T (p.Pro2306=)
NM_001378454.1(ALMS1):c.6918del (p.Ser2307fs) rs2103791934
NM_001378454.1(ALMS1):c.6921T>C (p.Ser2307=)
NM_001378454.1(ALMS1):c.6923C>A (p.Ser2308Tyr)
NM_001378454.1(ALMS1):c.6927G>A (p.Thr2309=)
NM_001378454.1(ALMS1):c.6930T>C (p.Gly2310=)
NM_001378454.1(ALMS1):c.6933A>C (p.Val2311=)
NM_001378454.1(ALMS1):c.6936T>C (p.Ser2312=)
NM_001378454.1(ALMS1):c.6944A>T (p.Asp2315Val) rs2103792016
NM_001378454.1(ALMS1):c.6948G>A (p.Leu2316=) rs754729193
NM_001378454.1(ALMS1):c.6948G>T (p.Leu2316Phe)
NM_001378454.1(ALMS1):c.6957A>G (p.Arg2319=)
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs) rs1553404377
NM_001378454.1(ALMS1):c.6963A>G (p.Pro2321=) rs2103792111
NM_001378454.1(ALMS1):c.6968C>T (p.Thr2323Ile) rs1671994565
NM_001378454.1(ALMS1):c.696G>A (p.Leu232=) rs1394347088
NM_001378454.1(ALMS1):c.6971A>G (p.Glu2324Gly)
NM_001378454.1(ALMS1):c.6972G>A (p.Glu2324=) rs2103792130
NM_001378454.1(ALMS1):c.6975A>G (p.Glu2325=) rs1455390186
NM_001378454.1(ALMS1):c.6984C>T (p.Ser2328=) rs2103792157
NM_001378454.1(ALMS1):c.6990G>A (p.Arg2330=) rs2103792165
NM_001378454.1(ALMS1):c.6993C>A (p.Cys2331Ter)
NM_001378454.1(ALMS1):c.699A>G (p.Thr233=)
NM_001378454.1(ALMS1):c.69G>A (p.Glu23=)
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.7001dup (p.Asp2335fs)
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.7008T>C (p.Ile2336=)
NM_001378454.1(ALMS1):c.7019C>T (p.Thr2340Met)
NM_001378454.1(ALMS1):c.7029A>G (p.Lys2343=) rs2103792354
NM_001378454.1(ALMS1):c.7033C>A (p.Arg2345=)
NM_001378454.1(ALMS1):c.7035G>A (p.Arg2345=)
NM_001378454.1(ALMS1):c.7041C>T (p.Gly2347=) rs2103792423
NM_001378454.1(ALMS1):c.7050T>C (p.Asn2350=)
NM_001378454.1(ALMS1):c.7059T>C (p.Phe2353=) rs1671996344
NM_001378454.1(ALMS1):c.705C>T (p.Asp235=)
NM_001378454.1(ALMS1):c.7067C>A (p.Ser2356Ter)
NM_001378454.1(ALMS1):c.7084C>T (p.Pro2362Ser) rs2103792526
NM_001378454.1(ALMS1):c.7086T>G (p.Pro2362=) rs1170522128
NM_001378454.1(ALMS1):c.7087C>G (p.Leu2363Val)
NM_001378454.1(ALMS1):c.7087C>T (p.Leu2363=)
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.711A>G (p.Glu237=) rs2103710597
NM_001378454.1(ALMS1):c.7129dup (p.Thr2377fs)
NM_001378454.1(ALMS1):c.7131T>C (p.Thr2377=) rs2103792743
NM_001378454.1(ALMS1):c.7145A>G (p.Gln2382Arg)
NM_001378454.1(ALMS1):c.7155A>G (p.Lys2385=)
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.7170T>C (p.Ser2390=)
NM_001378454.1(ALMS1):c.7175C>T (p.Pro2392Leu) rs1384040049
NM_001378454.1(ALMS1):c.717G>T (p.Ala239=) rs373972884
NM_001378454.1(ALMS1):c.7182G>A (p.Gly2394=) rs1572938646
NM_001378454.1(ALMS1):c.7182G>T (p.Gly2394=) rs1572938646
NM_001378454.1(ALMS1):c.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.7194C>T (p.Thr2398=)
NM_001378454.1(ALMS1):c.719C>T (p.Pro240Leu)
NM_001378454.1(ALMS1):c.71_72insAGA (p.Glu28dup) rs2104057693
NM_001378454.1(ALMS1):c.7209T>C (p.Ile2403=)
NM_001378454.1(ALMS1):c.7209TAT[1] (p.Ile2405del)
NM_001378454.1(ALMS1):c.7215C>T (p.Ile2405=) rs2103793068
NM_001378454.1(ALMS1):c.7219A>G (p.Met2407Val) rs1198704030
NM_001378454.1(ALMS1):c.7226del (p.Thr2409fs) rs1553404423
NM_001378454.1(ALMS1):c.7227T>A (p.Thr2409=) rs768032353
NM_001378454.1(ALMS1):c.7230C>T (p.Val2410=) rs2103793146
NM_001378454.1(ALMS1):c.7234A>T (p.Lys2412Ter)
NM_001378454.1(ALMS1):c.7237dup (p.Ser2413fs) rs1553404426
NM_001378454.1(ALMS1):c.7242T>C (p.Asp2414=)
NM_001378454.1(ALMS1):c.7244C>A (p.Ser2415Ter) rs1060500039
NM_001378454.1(ALMS1):c.7244C>G (p.Ser2415Ter)
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.7251T>C (p.Ser2417=)
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.7275C>G (p.Ser2425=) rs748261604
NM_001378454.1(ALMS1):c.7275C>T (p.Ser2425=) rs748261604
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.7296A>G (p.Leu2432=)
NM_001378454.1(ALMS1):c.7298C>G (p.Pro2433Arg) rs2103793431
NM_001378454.1(ALMS1):c.729A>G (p.Leu243=)
NM_001378454.1(ALMS1):c.7301_7302del (p.Glu2434fs) rs1246023978
NM_001378454.1(ALMS1):c.7310A>T (p.Glu2437Val)
NM_001378454.1(ALMS1):c.7311A>G (p.Glu2437=)
NM_001378454.1(ALMS1):c.7315G>C (p.Val2439Leu)
NM_001378454.1(ALMS1):c.7320T>C (p.Ser2440=) rs1672002722
NM_001378454.1(ALMS1):c.7330C>T (p.Leu2444=)
NM_001378454.1(ALMS1):c.7332_7333insGGA (p.Leu2444_Asn2445insGly) rs2103793539
NM_001378454.1(ALMS1):c.7341T>C (p.Phe2447=) rs1430973672
NM_001378454.1(ALMS1):c.7344A>C (p.Pro2448=) rs533061408
NM_001378454.1(ALMS1):c.7344A>G (p.Pro2448=) rs533061408
NM_001378454.1(ALMS1):c.7346A>G (p.Tyr2449Cys) rs766767334
NM_001378454.1(ALMS1):c.7347T>C (p.Tyr2449=) rs755252895
NM_001378454.1(ALMS1):c.7353A>G (p.Ser2451=)
NM_001378454.1(ALMS1):c.7356C>T (p.Pro2452=) rs1290880090
NM_001378454.1(ALMS1):c.7361C>T (p.Thr2454Ile)
NM_001378454.1(ALMS1):c.7370C>T (p.Thr2457Ile)
NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer) rs1225343345
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs) rs1370417967
NM_001378454.1(ALMS1):c.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.7389G>A (p.Glu2463=)
NM_001378454.1(ALMS1):c.7391G>A (p.Gly2464Asp) rs779815578
NM_001378454.1(ALMS1):c.7395G>T (p.Val2465=) rs1558651751
NM_001378454.1(ALMS1):c.7398A>G (p.Ser2466=) rs2103793843
NM_001378454.1(ALMS1):c.73G>T (p.Glu25Ter) rs1285425883
NM_001378454.1(ALMS1):c.7405G>T (p.Glu2469Ter) rs373586405
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.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.7435C>T (p.Leu2479=)
NM_001378454.1(ALMS1):c.7439C>T (p.Ala2480Val) rs2103793995
NM_001378454.1(ALMS1):c.7443A>G (p.Ala2481=)
NM_001378454.1(ALMS1):c.7444C>A (p.His2482Asn)
NM_001378454.1(ALMS1):c.7448T>A (p.Val2483Glu)
NM_001378454.1(ALMS1):c.744A>G (p.Glu248=)
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter) rs2103794046
NM_001378454.1(ALMS1):c.7452A>G (p.Lys2484=) rs1286157205
NM_001378454.1(ALMS1):c.7455C>A (p.Asn2485Lys) rs988216695
NM_001378454.1(ALMS1):c.7455C>T (p.Asn2485=)
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.7473C>T (p.Ser2491=) rs1572938980
NM_001378454.1(ALMS1):c.7482T>C (p.Asn2494=)
NM_001378454.1(ALMS1):c.7485T>C (p.His2495=)
NM_001378454.1(ALMS1):c.7491A>G (p.Lys2497=)
NM_001378454.1(ALMS1):c.7492G>C (p.Glu2498Gln)
NM_001378454.1(ALMS1):c.749G>C (p.Ser250Thr) rs2103710757
NM_001378454.1(ALMS1):c.74_75insGGAAGA (p.Glu27_Glu28dup) rs1491479006
NM_001378454.1(ALMS1):c.74_75insGGAAGAGGA (p.Glu28_Ala29insGluGluGlu)
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_75insGGAGTA (p.Glu26_Glu27insTerGlu) rs1574423810
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.7527G>A (p.Arg2509=) rs2103794339
NM_001378454.1(ALMS1):c.7530A>G (p.Val2510=) rs2103794345
NM_001378454.1(ALMS1):c.7531C>T (p.Arg2511Ter) rs1315351235
NM_001378454.1(ALMS1):c.7532G>A (p.Arg2511Gln)
NM_001378454.1(ALMS1):c.7536A>G (p.Ala2512=)
NM_001378454.1(ALMS1):c.7539_7540insAAT (p.His2513_Ala2514insAsn) rs757932553
NM_001378454.1(ALMS1):c.7540+10A>G rs2103794412
NM_001378454.1(ALMS1):c.7540+14T>G rs533780922
NM_001378454.1(ALMS1):c.7540+18G>A
NM_001378454.1(ALMS1):c.7540+19G>A
NM_001378454.1(ALMS1):c.7540+1G>A
NM_001378454.1(ALMS1):c.7540+1G>T
NM_001378454.1(ALMS1):c.7540+20C>A rs1410444926
NM_001378454.1(ALMS1):c.7540+2T>C rs1672009270
NM_001378454.1(ALMS1):c.7540+3A>G
NM_001378454.1(ALMS1):c.7540+9A>G
NM_001378454.1(ALMS1):c.7540+9A>T
NM_001378454.1(ALMS1):c.7541-11T>C
NM_001378454.1(ALMS1):c.7541-17G>A
NM_001378454.1(ALMS1):c.7541-19G>A rs1553404624
NM_001378454.1(ALMS1):c.7541-4C>G rs1380143996
NM_001378454.1(ALMS1):c.7541-8C>T rs1553404629
NM_001378454.1(ALMS1):c.7547A>G (p.Asn2516Ser)
NM_001378454.1(ALMS1):c.7553A>G (p.Lys2518Arg)
NM_001378454.1(ALMS1):c.7557C>T (p.Phe2519=) rs2103797357
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.756A>C (p.Ala252=) rs2103710786
NM_001378454.1(ALMS1):c.7575T>C (p.Cys2525=) rs1211562053
NM_001378454.1(ALMS1):c.7578A>G (p.Gly2526=) rs1204731958
NM_001378454.1(ALMS1):c.7581C>T (p.Tyr2527=) rs761997400
NM_001378454.1(ALMS1):c.7584C>G (p.Ser2528=) rs1672034621
NM_001378454.1(ALMS1):c.7589C>G (p.Ser2530Ter) rs1572939837
NM_001378454.1(ALMS1):c.7590A>G (p.Ser2530=)
NM_001378454.1(ALMS1):c.7596A>G (p.Leu2532=)
NM_001378454.1(ALMS1):c.7598A>G (p.Asn2533Ser)
NM_001378454.1(ALMS1):c.7599T>C (p.Asn2533=)
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_80del (p.Glu27_Glu28del) rs754175473
NM_001378454.1(ALMS1):c.75_80dup (p.Glu27_Glu28dup) rs754175473
NM_001378454.1(ALMS1):c.75_83del (p.Glu26_Glu28del)
NM_001378454.1(ALMS1):c.7600G>A (p.Glu2534Lys)
NM_001378454.1(ALMS1):c.7604A>T (p.Asp2535Val)
NM_001378454.1(ALMS1):c.7608C>T (p.Asp2536=)
NM_001378454.1(ALMS1):c.7609A>C (p.Arg2537=)
NM_001378454.1(ALMS1):c.760C>T (p.Leu254=) rs774576999
NM_001378454.1(ALMS1):c.7611G>A (p.Arg2537=)
NM_001378454.1(ALMS1):c.7620A>G (p.Val2540=)
NM_001378454.1(ALMS1):c.7623A>G (p.Glu2541=)
NM_001378454.1(ALMS1):c.7624del (p.Glu2542fs)
NM_001378454.1(ALMS1):c.7629C>G (p.Ile2543Met)
NM_001378454.1(ALMS1):c.762G>A (p.Leu254=)
NM_001378454.1(ALMS1):c.7632G>A (p.Lys2544=)
NM_001378454.1(ALMS1):c.7635A>G (p.Ala2545=) rs752568120
NM_001378454.1(ALMS1):c.7638G>A (p.Glu2546=) rs1672035793
NM_001378454.1(ALMS1):c.7639T>C (p.Leu2547=)
NM_001378454.1(ALMS1):c.7639T>G (p.Leu2547Val) rs200155429
NM_001378454.1(ALMS1):c.764+12T>A
NM_001378454.1(ALMS1):c.764+12dup rs2103710895
NM_001378454.1(ALMS1):c.764+13A>C
NM_001378454.1(ALMS1):c.764+17G>A
NM_001378454.1(ALMS1):c.764+17G>T rs1057524596
NM_001378454.1(ALMS1):c.764+9A>T rs551013858
NM_001378454.1(ALMS1):c.7641A>G (p.Leu2547=)
NM_001378454.1(ALMS1):c.7642T>C (p.Phe2548Leu)
NM_001378454.1(ALMS1):c.7647T>C (p.Gly2549=)
NM_001378454.1(ALMS1):c.765-11T>C
NM_001378454.1(ALMS1):c.765-15_765-12del rs1432858141
NM_001378454.1(ALMS1):c.765-17T>C
NM_001378454.1(ALMS1):c.765-1G>C
NM_001378454.1(ALMS1):c.765-20_765-17del
NM_001378454.1(ALMS1):c.765-6T>A rs755762723
NM_001378454.1(ALMS1):c.765-6T>C rs755762723
NM_001378454.1(ALMS1):c.765-8A>G rs2103714342
NM_001378454.1(ALMS1):c.7650T>C (p.His2550=) rs756901095
NM_001378454.1(ALMS1):c.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.7666T>C (p.Leu2556=) rs2103797706
NM_001378454.1(ALMS1):c.7670C>T (p.Ser2557Phe) rs878855001
NM_001378454.1(ALMS1):c.7671C>T (p.Ser2557=) rs749872283
NM_001378454.1(ALMS1):c.7672A>T (p.Lys2558Ter) rs1200012970
NM_001378454.1(ALMS1):c.7674+10A>G rs1553404676
NM_001378454.1(ALMS1):c.7674+13T>C
NM_001378454.1(ALMS1):c.7674+14C>T
NM_001378454.1(ALMS1):c.7674+16G>A
NM_001378454.1(ALMS1):c.7674+1G>T rs1417025395
NM_001378454.1(ALMS1):c.7675-12T>C
NM_001378454.1(ALMS1):c.7675-13_7675-10del
NM_001378454.1(ALMS1):c.7675-15G>T
NM_001378454.1(ALMS1):c.7675-4C>T
NM_001378454.1(ALMS1):c.7675-8T>C
NM_001378454.1(ALMS1):c.7675-9A>G rs2103889006
NM_001378454.1(ALMS1):c.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.7695A>C (p.Gly2565=) rs944178146
NM_001378454.1(ALMS1):c.76G>C (p.Glu26Gln)
NM_001378454.1(ALMS1):c.7701A>G (p.Gly2567=)
NM_001378454.1(ALMS1):c.7709C>G (p.Pro2570Arg)
NM_001378454.1(ALMS1):c.770T>A (p.Ile257Asn)
NM_001378454.1(ALMS1):c.7710A>G (p.Pro2570=) rs750225944
NM_001378454.1(ALMS1):c.7713A>G (p.Glu2571=)
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.7737_7738insTTTTTTTTTTTTTTTTTTNNNNNNNNNNACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCGATTTTCCTGCCTCAGCCTCCGTCACATTATTATT (p.Ile2579_Glu2580insPhePhePhePhePhePheXaaXaaXaaXaaGlyValLeuLeuCysCysLeuGlyGlyValGlnTrpCysAsnLeuGlySerLeuGlnProLeuProProArgLeuLysArgPheSerCysLeuSerLeuArgHisIleIleIle) rs2103889249
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>A (p.Glu2580=)
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.774T>C (p.Pro258=)
NM_001378454.1(ALMS1):c.7750A>G (p.Lys2584Glu) rs776783409
NM_001378454.1(ALMS1):c.7751del (p.Lys2584fs)
NM_001378454.1(ALMS1):c.7752G>A (p.Lys2584=) rs745947655
NM_001378454.1(ALMS1):c.7752G>C (p.Lys2584Asn)
NM_001378454.1(ALMS1):c.775G>C (p.Asp259His)
NM_001378454.1(ALMS1):c.7761C>T (p.Phe2587=) rs1553409598
NM_001378454.1(ALMS1):c.7762C>T (p.Arg2588Trp)
NM_001378454.1(ALMS1):c.7763G>A (p.Arg2588Gln)
NM_001378454.1(ALMS1):c.7769dup (p.Thr2591fs)
NM_001378454.1(ALMS1):c.7770A>G (p.Leu2590=) rs753477646
NM_001378454.1(ALMS1):c.7772C>G (p.Thr2591Ser) rs2103889489
NM_001378454.1(ALMS1):c.7786C>T (p.Gln2596Ter) rs1672934629
NM_001378454.1(ALMS1):c.7788A>G (p.Gln2596=)
NM_001378454.1(ALMS1):c.7792G>T (p.Asp2598Tyr)
NM_001378454.1(ALMS1):c.7797A>G (p.Arg2599=)
NM_001378454.1(ALMS1):c.77A>C (p.Glu26Ala)
NM_001378454.1(ALMS1):c.7800C>T (p.His2600=)
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.7821T>G (p.Ala2607=)
NM_001378454.1(ALMS1):c.7825C>A (p.Pro2609Thr) rs2103889689
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs) rs1553409617
NM_001378454.1(ALMS1):c.782C>G (p.Ser261Cys) rs1671339296
NM_001378454.1(ALMS1):c.7830A>G (p.Ser2610=)
NM_001378454.1(ALMS1):c.7836G>A (p.Met2612Ile)
NM_001378454.1(ALMS1):c.7839C>A (p.Thr2613=) rs746168704
NM_001378454.1(ALMS1):c.7839C>G (p.Thr2613=)
NM_001378454.1(ALMS1):c.7839C>T (p.Thr2613=) rs746168704
NM_001378454.1(ALMS1):c.783T>C (p.Ser261=) rs1572914265
NM_001378454.1(ALMS1):c.7844G>A (p.Gly2615Glu)
NM_001378454.1(ALMS1):c.7847G>A (p.Arg2616Gln)
NM_001378454.1(ALMS1):c.784G>T (p.Glu262Ter)
NM_001378454.1(ALMS1):c.7854C>G (p.Asn2618Lys)
NM_001378454.1(ALMS1):c.7854C>T (p.Asn2618=)
NM_001378454.1(ALMS1):c.7856C>G (p.Pro2619Arg) rs1672936863
NM_001378454.1(ALMS1):c.7863A>G (p.Ser2621=)
NM_001378454.1(ALMS1):c.7864dup (p.Cys2622fs) rs2103889832
NM_001378454.1(ALMS1):c.7866C>A (p.Cys2622Ter)
NM_001378454.1(ALMS1):c.7866C>T (p.Cys2622=)
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.7887T>C (p.Leu2629=)
NM_001378454.1(ALMS1):c.7887T>G (p.Leu2629=) rs1277528063
NM_001378454.1(ALMS1):c.7888T>G (p.Ser2630Ala) rs1672937962
NM_001378454.1(ALMS1):c.7890T>C (p.Ser2630=)
NM_001378454.1(ALMS1):c.7893A>C (p.Ala2631=) rs2103889947
NM_001378454.1(ALMS1):c.7898T>C (p.Leu2633Ser) rs2103889971
NM_001378454.1(ALMS1):c.7901A>G (p.Asp2634Gly) rs1368206928
NM_001378454.1(ALMS1):c.7904A>G (p.Gln2635Arg)
NM_001378454.1(ALMS1):c.7908C>T (p.Asn2636=)
NM_001378454.1(ALMS1):c.790dup (p.Thr264fs) rs1307785790
NM_001378454.1(ALMS1):c.7911C>T (p.Asn2637=) rs751995271
NM_001378454.1(ALMS1):c.7913C>A (p.Ser2638Tyr)
NM_001378454.1(ALMS1):c.7926T>A (p.Val2642=) rs749406009
NM_001378454.1(ALMS1):c.7927T>C (p.Trp2643Arg)
NM_001378454.1(ALMS1):c.792T>C (p.Thr264=)
NM_001378454.1(ALMS1):c.7935C>T (p.Ser2645=) rs2103890063
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.7948del (p.Ser2650fs)
NM_001378454.1(ALMS1):c.7956C>T (p.Ser2652=) rs2103890112
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.7986C>T (p.Phe2662=)
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.7998A>G (p.Lys2666=)
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.8005C>T (p.Arg2669Ter) rs549857076
NM_001378454.1(ALMS1):c.8013A>C (p.Pro2671=) rs1672940803
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.801T>G (p.Ser267=) rs2103714530
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.8031C>T (p.Asp2677=) rs754078506
NM_001378454.1(ALMS1):c.803_805del (p.Ser268_Arg269delinsTer) rs758952057
NM_001378454.1(ALMS1):c.8042C>G (p.Ser2681Ter)
NM_001378454.1(ALMS1):c.8043A>G (p.Ser2681=)
NM_001378454.1(ALMS1):c.8044G>C (p.Glu2682Gln)
NM_001378454.1(ALMS1):c.8052A>G (p.Val2684=) rs2103890442
NM_001378454.1(ALMS1):c.8057C>T (p.Pro2686Leu) rs1269143077
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter) rs1426009756
NM_001378454.1(ALMS1):c.8061T>A (p.Ala2687=)
NM_001378454.1(ALMS1):c.8068C>G (p.Pro2690Ala)
NM_001378454.1(ALMS1):c.8070A>G (p.Pro2690=)
NM_001378454.1(ALMS1):c.8072del (p.Pro2691fs)
NM_001378454.1(ALMS1):c.8075AAG[1] (p.Glu2693del) rs1553409676
NM_001378454.1(ALMS1):c.8079A>G (p.Glu2693=)
NM_001378454.1(ALMS1):c.807A>G (p.Arg269=) rs2103714566
NM_001378454.1(ALMS1):c.8089C>T (p.His2697Tyr) rs956487104
NM_001378454.1(ALMS1):c.8109del (p.Ser2704fs) rs2103890652
NM_001378454.1(ALMS1):c.810A>G (p.Pro270=) rs2103714585
NM_001378454.1(ALMS1):c.8127A>G (p.Lys2709=) rs766713925
NM_001378454.1(ALMS1):c.8129del (p.Lys2710fs)
NM_001378454.1(ALMS1):c.812C>T (p.Ser271Leu)
NM_001378454.1(ALMS1):c.8130G>A (p.Lys2710=)
NM_001378454.1(ALMS1):c.8133del (p.Phe2711fs) rs1553409683
NM_001378454.1(ALMS1):c.8135C>T (p.Thr2712Ile)
NM_001378454.1(ALMS1):c.8139C>T (p.Thr2713=) rs2103890785
NM_001378454.1(ALMS1):c.8141_8148del (p.Ser2714fs) rs1553409686
NM_001378454.1(ALMS1):c.8142C>T (p.Ser2714=) rs1572969339
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.8152dup (p.Ser2718fs) rs1553409691
NM_001378454.1(ALMS1):c.8153C>A (p.Ser2718Ter)
NM_001378454.1(ALMS1):c.8154A>G (p.Ser2718=)
NM_001378454.1(ALMS1):c.8156C>G (p.Ser2719Cys) rs1572969357
NM_001378454.1(ALMS1):c.8163A>G (p.Arg2721=) rs756062297
NM_001378454.1(ALMS1):c.8167T>A (p.Ser2723Thr)
NM_001378454.1(ALMS1):c.816A>G (p.Glu272=)
NM_001378454.1(ALMS1):c.8174_8184del (p.Cys2725fs) rs2103890894
NM_001378454.1(ALMS1):c.8178T>C (p.Ile2726=) rs773943182
NM_001378454.1(ALMS1):c.8203G>C (p.Gly2735Arg) rs761136859
NM_001378454.1(ALMS1):c.8205T>G (p.Gly2735=) rs2103891015
NM_001378454.1(ALMS1):c.820A>T (p.Ser274Cys)
NM_001378454.1(ALMS1):c.8211T>C (p.Thr2737=) rs759935089
NM_001378454.1(ALMS1):c.8211T>G (p.Thr2737=) rs759935089
NM_001378454.1(ALMS1):c.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.8220C>T (p.Ser2740=) rs920410396
NM_001378454.1(ALMS1):c.8221C>T (p.Gln2741Ter)
NM_001378454.1(ALMS1):c.8223G>A (p.Gln2741=)
NM_001378454.1(ALMS1):c.8223G>T (p.Gln2741His)
NM_001378454.1(ALMS1):c.8225G>C (p.Cys2742Ser)
NM_001378454.1(ALMS1):c.8229T>A (p.Thr2743=) rs2103891110
NM_001378454.1(ALMS1):c.8229T>C (p.Thr2743=) rs2103891110
NM_001378454.1(ALMS1):c.8235A>G (p.Ala2745=)
NM_001378454.1(ALMS1):c.823G>T (p.Glu275Ter)
NM_001378454.1(ALMS1):c.8241G>A (p.Val2747=)
NM_001378454.1(ALMS1):c.8242G>C (p.Gly2748Arg)
NM_001378454.1(ALMS1):c.8244G>A (p.Gly2748=) rs1488100564
NM_001378454.1(ALMS1):c.8244G>C (p.Gly2748=) rs1488100564
NM_001378454.1(ALMS1):c.8245G>A (p.Val2749Ile)
NM_001378454.1(ALMS1):c.8245dup (p.Val2749fs) rs748621056
NM_001378454.1(ALMS1):c.8246T>C (p.Val2749Ala) rs2103891180
NM_001378454.1(ALMS1):c.8250T>C (p.Phe2750=)
NM_001378454.1(ALMS1):c.8250_8254del (p.Asn2751fs) rs2103891188
NM_001378454.1(ALMS1):c.8252A>G (p.Asn2751Ser)
NM_001378454.1(ALMS1):c.8254T>A (p.Ser2752Thr)
NM_001378454.1(ALMS1):c.8256T>G (p.Ser2752=) rs2103891214
NM_001378454.1(ALMS1):c.8258A>G (p.His2753Arg)
NM_001378454.1(ALMS1):c.8259T>C (p.His2753=)
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.8286A>G (p.Arg2762=) rs2103891320
NM_001378454.1(ALMS1):c.8290C>T (p.Leu2764Phe) rs2103891331
NM_001378454.1(ALMS1):c.8295dup (p.Gln2766fs)
NM_001378454.1(ALMS1):c.8296C>G (p.Gln2766Glu)
NM_001378454.1(ALMS1):c.8298G>A (p.Gln2766=)
NM_001378454.1(ALMS1):c.8299A>G (p.Lys2767Glu)
NM_001378454.1(ALMS1):c.82G>A (p.Glu28Lys) rs1670512542
NM_001378454.1(ALMS1):c.8304C>A (p.Thr2768=) rs2103891364
NM_001378454.1(ALMS1):c.8304C>G (p.Thr2768=)
NM_001378454.1(ALMS1):c.8306C>T (p.Ser2769Phe) rs1060500037
NM_001378454.1(ALMS1):c.8310C>T (p.Ser2770=) rs2103891385
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.8316A>G (p.Ser2772=)
NM_001378454.1(ALMS1):c.8316A>T (p.Ser2772=) rs777224319
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.833_834del (p.Phe278fs) rs1671340542
NM_001378454.1(ALMS1):c.8340A>C (p.Ser2780=)
NM_001378454.1(ALMS1):c.8343del (p.Asp2782fs)
NM_001378454.1(ALMS1):c.8345A>G (p.Asp2782Gly) rs1672950843
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer) rs1553409710
NM_001378454.1(ALMS1):c.8350G>C (p.Glu2784Gln)
NM_001378454.1(ALMS1):c.8358T>G (p.Thr2786=) rs2103891552
NM_001378454.1(ALMS1):c.8358dup (p.Ile2787fs)
NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs)
NM_001378454.1(ALMS1):c.8375G>A (p.Arg2792Lys)
NM_001378454.1(ALMS1):c.8376A>G (p.Arg2792=)
NM_001378454.1(ALMS1):c.837G>T (p.Gln279His)
NM_001378454.1(ALMS1):c.8380C>T (p.Gln2794Ter) rs193919338
NM_001378454.1(ALMS1):c.8387A>G (p.Gln2796Arg)
NM_001378454.1(ALMS1):c.8388A>G (p.Gln2796=)
NM_001378454.1(ALMS1):c.8388A>T (p.Gln2796His) rs770409935
NM_001378454.1(ALMS1):c.8391A>G (p.Lys2797=) rs2103891688
NM_001378454.1(ALMS1):c.8391dup (p.Leu2798fs) rs1553409715
NM_001378454.1(ALMS1):c.8392T>C (p.Leu2798=)
NM_001378454.1(ALMS1):c.8394A>G (p.Leu2798=)
NM_001378454.1(ALMS1):c.8396C>G (p.Pro2799Arg)
NM_001378454.1(ALMS1):c.840T>C (p.Ala280=) rs2103714655
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.8440_8443del (p.Arg2814fs)
NM_001378454.1(ALMS1):c.8444C>G (p.Ser2815Ter) rs2103891827
NM_001378454.1(ALMS1):c.8446G>T (p.Asp2816Tyr)
NM_001378454.1(ALMS1):c.8454A>G (p.Thr2818=) rs1041301597
NM_001378454.1(ALMS1):c.8462A>T (p.His2821Leu)
NM_001378454.1(ALMS1):c.8466T>G (p.Ser2822=)
NM_001378454.1(ALMS1):c.8469G>A (p.Glu2823=) rs2103891896
NM_001378454.1(ALMS1):c.8472C>T (p.Pro2824=) rs1467835066
NM_001378454.1(ALMS1):c.847G>A (p.Glu283Lys) rs780066739
NM_001378454.1(ALMS1):c.847G>T (p.Glu283Ter)
NM_001378454.1(ALMS1):c.8484A>C (p.Ala2828=)
NM_001378454.1(ALMS1):c.8485A>T (p.Asn2829Tyr)
NM_001378454.1(ALMS1):c.8487T>C (p.Asn2829=) rs756959656
NM_001378454.1(ALMS1):c.8490T>C (p.Cys2830=)
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.849A>G (p.Glu283=)
NM_001378454.1(ALMS1):c.8501A>G (p.Lys2834Arg) rs1672955488
NM_001378454.1(ALMS1):c.8505A>G (p.Glu2835=)
NM_001378454.1(ALMS1):c.850G>A (p.Val284Ile)
NM_001378454.1(ALMS1):c.8512A>G (p.Ile2838Val)
NM_001378454.1(ALMS1):c.8538C>T (p.Ser2846=) rs2103892193
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.8550A>G (p.Pro2850=) rs1672956807
NM_001378454.1(ALMS1):c.8555C>G (p.Ser2852Cys) rs2103892251
NM_001378454.1(ALMS1):c.8556C>T (p.Ser2852=) rs201560634
NM_001378454.1(ALMS1):c.8560C>T (p.Leu2854=) rs765176591
NM_001378454.1(ALMS1):c.8560_8580del (p.Leu2854_Ser2860del) rs2103892286
NM_001378454.1(ALMS1):c.8562A>G (p.Leu2854=) rs2103892303
NM_001378454.1(ALMS1):c.8563G>T (p.Gly2855Ter) rs1672957185
NM_001378454.1(ALMS1):c.8564_8565delinsAG (p.Gly2855Glu)
NM_001378454.1(ALMS1):c.8565A>T (p.Gly2855=)
NM_001378454.1(ALMS1):c.8568A>G (p.Val2856=)
NM_001378454.1(ALMS1):c.8574A>C (p.Arg2858Ser) rs1489673662
NM_001378454.1(ALMS1):c.8574A>G (p.Arg2858=) rs1489673662
NM_001378454.1(ALMS1):c.8576C>T (p.Ser2859Leu)
NM_001378454.1(ALMS1):c.857C>G (p.Ser286Ter) rs1270472063
NM_001378454.1(ALMS1):c.8592A>C (p.Gly2864=)
NM_001378454.1(ALMS1):c.8593G>A (p.Val2865Ile) rs780429128
NM_001378454.1(ALMS1):c.8593G>T (p.Val2865Leu)
NM_001378454.1(ALMS1):c.8600A>C (p.Glu2867Ala)
NM_001378454.1(ALMS1):c.8604G>A (p.Lys2868=)
NM_001378454.1(ALMS1):c.8611A>G (p.Thr2871Ala) rs2103892484
NM_001378454.1(ALMS1):c.8613T>C (p.Thr2871=) rs1672958479
NM_001378454.1(ALMS1):c.8614A>G (p.Ile2872Val) rs1672958523
NM_001378454.1(ALMS1):c.8622A>C (p.Pro2874=) rs748474795
NM_001378454.1(ALMS1):c.8629C>T (p.Pro2877Ser) rs2103892547
NM_001378454.1(ALMS1):c.8630_8631insG (p.Ser2878fs) rs2103892558
NM_001378454.1(ALMS1):c.8636G>T (p.Cys2879Phe) rs747099151
NM_001378454.1(ALMS1):c.8637C>A (p.Cys2879Ter)
NM_001378454.1(ALMS1):c.8643T>C (p.Phe2881=)
NM_001378454.1(ALMS1):c.8654G>T (p.Arg2885Leu)
NM_001378454.1(ALMS1):c.8658G>A (p.Glu2886=) rs555256551
NM_001378454.1(ALMS1):c.8658_8783del (p.Ser2891_Gln2932del)
NM_001378454.1(ALMS1):c.8661C>G (p.Leu2887=) rs2103892697
NM_001378454.1(ALMS1):c.8667A>G (p.Glu2889=) rs2103892726
NM_001378454.1(ALMS1):c.8668dup (p.Gln2890fs)
NM_001378454.1(ALMS1):c.8669_8672delinsTCTCACT (p.Gln2890_Ser2891delinsLeuSerLeu)
NM_001378454.1(ALMS1):c.8670A>G (p.Gln2890=)
NM_001378454.1(ALMS1):c.8674_8678del (p.Lys2892fs)
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.8694C>T (p.Asp2898=) rs2103892855
NM_001378454.1(ALMS1):c.8696A>G (p.His2899Arg)
NM_001378454.1(ALMS1):c.8697T>C (p.His2899=) rs1280810980
NM_001378454.1(ALMS1):c.8699T>C (p.Val2900Ala) rs1672960979
NM_001378454.1(ALMS1):c.86C>A (p.Ala29Asp)
NM_001378454.1(ALMS1):c.8703G>A (p.Arg2901=) rs2103892882
NM_001378454.1(ALMS1):c.870C>T (p.Ser290=)
NM_001378454.1(ALMS1):c.870del (p.Ser290fs) rs2103714765
NM_001378454.1(ALMS1):c.8710C>T (p.His2904Tyr)
NM_001378454.1(ALMS1):c.8718dup (p.Ser2907fs) rs1553409764
NM_001378454.1(ALMS1):c.871A>G (p.Ser291Gly) rs2103714771
NM_001378454.1(ALMS1):c.8721T>C (p.Ser2907=) rs1386201636
NM_001378454.1(ALMS1):c.8738A>T (p.Tyr2913Phe)
NM_001378454.1(ALMS1):c.8739T>G (p.Tyr2913Ter)
NM_001378454.1(ALMS1):c.8744C>T (p.Ala2915Val)
NM_001378454.1(ALMS1):c.8745T>A (p.Ala2915=) rs2103893096
NM_001378454.1(ALMS1):c.8753T>G (p.Leu2918Arg)
NM_001378454.1(ALMS1):c.8753_8754delinsGA (p.Leu2918Arg)
NM_001378454.1(ALMS1):c.8754T>A (p.Leu2918=)
NM_001378454.1(ALMS1):c.8756CTT[1] (p.Ser2920del) rs1553409775
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs) rs1553409774
NM_001378454.1(ALMS1):c.8757T>C (p.Pro2919=) rs760452285
NM_001378454.1(ALMS1):c.8757T>G (p.Pro2919=)
NM_001378454.1(ALMS1):c.875G>A (p.Arg292His)
NM_001378454.1(ALMS1):c.8763C>A (p.Cys2921Ter) rs765908556
NM_001378454.1(ALMS1):c.8763C>T (p.Cys2921=)
NM_001378454.1(ALMS1):c.8769dup (p.Leu2924fs) rs2103893216
NM_001378454.1(ALMS1):c.876C>G (p.Arg292=)
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.8776C>A (p.Gln2926Lys)
NM_001378454.1(ALMS1):c.8778A>G (p.Gln2926=)
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter) rs376244626
NM_001378454.1(ALMS1):c.8788T>G (p.Phe2930Val) rs751893253
NM_001378454.1(ALMS1):c.8796G>A (p.Gln2932=)
NM_001378454.1(ALMS1):c.8799C>T (p.Cys2933=) rs2103893317
NM_001378454.1(ALMS1):c.87T>A (p.Ala29=)
NM_001378454.1(ALMS1):c.8804C>T (p.Ala2935Val)
NM_001378454.1(ALMS1):c.8805C>A (p.Ala2935=) rs781220396
NM_001378454.1(ALMS1):c.8808A>G (p.Pro2936=)
NM_001378454.1(ALMS1):c.8816A>G (p.Asp2939Gly) rs886056313
NM_001378454.1(ALMS1):c.8817T>A (p.Asp2939Glu)
NM_001378454.1(ALMS1):c.8820T>C (p.His2940=)
NM_001378454.1(ALMS1):c.8822A>G (p.Gln2941Arg)
NM_001378454.1(ALMS1):c.8823A>G (p.Gln2941=)
NM_001378454.1(ALMS1):c.8824A>G (p.Met2942Val) rs2103893441
NM_001378454.1(ALMS1):c.8829A>G (p.Arg2943=)
NM_001378454.1(ALMS1):c.8833A>G (p.Asn2945Asp) rs1330910084
NM_001378454.1(ALMS1):c.8835C>T (p.Asn2945=)
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg) rs574785830
NM_001378454.1(ALMS1):c.8840C>T (p.Ser2947Phe)
NM_001378454.1(ALMS1):c.8847T>C (p.Leu2949=)
NM_001378454.1(ALMS1):c.8850T>A (p.Pro2950=)
NM_001378454.1(ALMS1):c.8853A>G (p.Gln2951=)
NM_001378454.1(ALMS1):c.8856_8860del (p.Gln2953fs) rs2103893595
NM_001378454.1(ALMS1):c.8858_8859insAGCTATAGAATCCTCA (p.Asp2954fs) rs2103893636
NM_001378454.1(ALMS1):c.8859G>A (p.Gln2953=) rs2103893646
NM_001378454.1(ALMS1):c.885A>G (p.Val295=)
NM_001378454.1(ALMS1):c.8861A>T (p.Asp2954Val) rs751940353
NM_001378454.1(ALMS1):c.8862T>G (p.Asp2954Glu)
NM_001378454.1(ALMS1):c.8874A>G (p.Ser2958=)
NM_001378454.1(ALMS1):c.8883G>C (p.Pro2961=)
NM_001378454.1(ALMS1):c.8884T>C (p.Ser2962Pro)
NM_001378454.1(ALMS1):c.8889C>T (p.Pro2963=) rs145029950
NM_001378454.1(ALMS1):c.888T>C (p.Ser296=)
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.8898T>A (p.Leu2966=) rs1572970207
NM_001378454.1(ALMS1):c.8901A>G (p.Glu2967=) rs371736476
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.8919G>C (p.Ala2973=)
NM_001378454.1(ALMS1):c.8919G>T (p.Ala2973=)
NM_001378454.1(ALMS1):c.891G>A (p.Gln297=)
NM_001378454.1(ALMS1):c.8922A>G (p.Pro2974=)
NM_001378454.1(ALMS1):c.8934C>A (p.Asp2978Glu)
NM_001378454.1(ALMS1):c.8934C>T (p.Asp2978=)
NM_001378454.1(ALMS1):c.8935C>T (p.Gln2979Ter)
NM_001378454.1(ALMS1):c.893A>G (p.His298Arg)
NM_001378454.1(ALMS1):c.8946A>G (p.Lys2982=) rs762397764
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.8958C>T (p.Pro2986=) rs1478666857
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.8965C>T (p.Gln2989Ter) rs2103894102
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.8980G>A (p.Val2994Ile) rs45566838
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.8998C>T (p.Gln3000Ter) rs200930613
NM_001378454.1(ALMS1):c.9004A>C (p.Lys3002Gln)
NM_001378454.1(ALMS1):c.9006G>A (p.Lys3002=) rs753980616
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.900T>C (p.Leu300=) rs2103714886
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.9042C>G (p.Ala3014=) rs769455651
NM_001378454.1(ALMS1):c.9042C>T (p.Ala3014=) rs769455651
NM_001378454.1(ALMS1):c.9045G>A (p.Lys3015=)
NM_001378454.1(ALMS1):c.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.9057G>A (p.Val3019=)
NM_001378454.1(ALMS1):c.9062C>G (p.Ser3021Cys)
NM_001378454.1(ALMS1):c.9063C>G (p.Ser3021=)
NM_001378454.1(ALMS1):c.9066G>A (p.Gln3022=)
NM_001378454.1(ALMS1):c.9068C>G (p.Ser3023Ter)
NM_001378454.1(ALMS1):c.9069A>C (p.Ser3023=) rs1672973190
NM_001378454.1(ALMS1):c.906C>T (p.Gly302=)
NM_001378454.1(ALMS1):c.9083_9084del (p.Cys3028fs)
NM_001378454.1(ALMS1):c.908G>A (p.Ser303Asn)
NM_001378454.1(ALMS1):c.9099T>C (p.Ser3033=)
NM_001378454.1(ALMS1):c.90A>C (p.Ala30=)
NM_001378454.1(ALMS1):c.90A>T (p.Ala30=) rs1420916551
NM_001378454.1(ALMS1):c.90_92del (p.Ala35del) rs973057702
NM_001378454.1(ALMS1):c.9108T>C (p.Thr3036=)
NM_001378454.1(ALMS1):c.9109CCT[1] (p.Pro3038del) rs759799299
NM_001378454.1(ALMS1):c.9111T>C (p.Pro3037=) rs1672974409
NM_001378454.1(ALMS1):c.9113del (p.Pro3038fs) rs1425609364
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.9135T>C (p.Ser3045=)
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.9144T>C (p.His3048=) rs2103894899
NM_001378454.1(ALMS1):c.9149C>A (p.Thr3050Asn) rs2103894928
NM_001378454.1(ALMS1):c.9149C>G (p.Thr3050Ser)
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs) rs1553409851
NM_001378454.1(ALMS1):c.9154T>G (p.Cys3052Gly) rs1672975660
NM_001378454.1(ALMS1):c.9155G>C (p.Cys3052Ser)
NM_001378454.1(ALMS1):c.9156T>C (p.Cys3052=) rs2103894955
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.9159C>A (p.Pro3053=)
NM_001378454.1(ALMS1):c.9159C>G (p.Pro3053=)
NM_001378454.1(ALMS1):c.9159C>T (p.Pro3053=)
NM_001378454.1(ALMS1):c.915T>C (p.Ala305=)
NM_001378454.1(ALMS1):c.9160A>G (p.Lys3054Glu)
NM_001378454.1(ALMS1):c.9162G>A (p.Lys3054=) rs1268306031
NM_001378454.1(ALMS1):c.9180T>C (p.Asp3060=) rs1572970568
NM_001378454.1(ALMS1):c.9185G>A (p.Gly3062Glu)
NM_001378454.1(ALMS1):c.918T>A (p.Val306=)
NM_001378454.1(ALMS1):c.9190_9191insA (p.Leu3064fs) rs1672976991
NM_001378454.1(ALMS1):c.9192A>G (p.Leu3064=)
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.9210A>G (p.Ser3070=) rs541511993
NM_001378454.1(ALMS1):c.9210A>T (p.Ser3070=) rs541511993
NM_001378454.1(ALMS1):c.9211T>C (p.Leu3071=) rs2103895155
NM_001378454.1(ALMS1):c.9232A>C (p.Arg3078=) rs2103895260
NM_001378454.1(ALMS1):c.9235A>G (p.Met3079Val)
NM_001378454.1(ALMS1):c.9240T>C (p.Asn3080=)
NM_001378454.1(ALMS1):c.9242G>T (p.Ser3081Ile) rs750425368
NM_001378454.1(ALMS1):c.9251del (p.Asn3084fs) rs1572970628
NM_001378454.1(ALMS1):c.9252C>T (p.Asn3084=) rs1237573573
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.9267T>C (p.Thr3089=) rs2103895383
NM_001378454.1(ALMS1):c.9268_9269dup (p.Ser3091fs) rs2103895390
NM_001378454.1(ALMS1):c.9270A>G (p.Val3090=)
NM_001378454.1(ALMS1):c.9270A>T (p.Val3090=) rs779871507
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.9303A>G (p.Leu3101=)
NM_001378454.1(ALMS1):c.9304T>C (p.Leu3102=) rs537370242
NM_001378454.1(ALMS1):c.9306G>A (p.Leu3102=) rs747617053
NM_001378454.1(ALMS1):c.9309C>T (p.Thr3103=) rs1319009177
NM_001378454.1(ALMS1):c.930C>T (p.Cys310=)
NM_001378454.1(ALMS1):c.9318T>A (p.Pro3106=) rs771679163
NM_001378454.1(ALMS1):c.9320T>A (p.Val3107Glu)
NM_001378454.1(ALMS1):c.9325C>G (p.Gln3109Glu) rs1558667813
NM_001378454.1(ALMS1):c.9325C>T (p.Gln3109Ter) 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.933T>C (p.Pro311=) rs773082101
NM_001378454.1(ALMS1):c.9340_9341del (p.Leu3114fs) rs2103895650
NM_001378454.1(ALMS1):c.9342A>C (p.Leu3114Phe) rs759935236
NM_001378454.1(ALMS1):c.9342A>G (p.Leu3114=) rs759935236
NM_001378454.1(ALMS1):c.9351A>G (p.Leu3117=) rs1672980633
NM_001378454.1(ALMS1):c.9352G>T (p.Gly3118Ter) rs2103895712
NM_001378454.1(ALMS1):c.9353G>A (p.Gly3118Glu) rs1672980678
NM_001378454.1(ALMS1):c.9366A>C (p.Ser3122=) rs2103895759
NM_001378454.1(ALMS1):c.9367C>A (p.Leu3123Met) rs751613156
NM_001378454.1(ALMS1):c.9367C>T (p.Leu3123=)
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.9381C>G (p.Val3127=)
NM_001378454.1(ALMS1):c.9382G>T (p.Val3128Leu) rs764937531
NM_001378454.1(ALMS1):c.9385C>T (p.Gln3129Ter) rs1314034889
NM_001378454.1(ALMS1):c.9386dup (p.Pro3130fs)
NM_001378454.1(ALMS1):c.9389C>T (p.Pro3130Leu)
NM_001378454.1(ALMS1):c.9393T>C (p.Ser3131=)
NM_001378454.1(ALMS1):c.9394C>T (p.Leu3132Phe)
NM_001378454.1(ALMS1):c.9398C>G (p.Pro3133Arg)
NM_001378454.1(ALMS1):c.9399A>G (p.Pro3133=)
NM_001378454.1(ALMS1):c.9401A>G (p.Asp3134Gly)
NM_001378454.1(ALMS1):c.9402C>T (p.Asp3134=) rs2103895948
NM_001378454.1(ALMS1):c.9409A>G (p.Thr3137Ala)
NM_001378454.1(ALMS1):c.9410C>G (p.Thr3137Ser) rs775701628
NM_001378454.1(ALMS1):c.9411T>C (p.Thr3137=) rs985056937
NM_001378454.1(ALMS1):c.9414T>C (p.Ile3138=)
NM_001378454.1(ALMS1):c.9419_9420del (p.Gln3140fs) rs1558667882
NM_001378454.1(ALMS1):c.9423C>G (p.Asp3141Glu) rs1486652095
NM_001378454.1(ALMS1):c.9423C>T (p.Asp3141=)
NM_001378454.1(ALMS1):c.9426G>A (p.Leu3142=)
NM_001378454.1(ALMS1):c.9430dup (p.Thr3144fs) rs878855003
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.9442C>T (p.Gln3148Ter) rs917667192
NM_001378454.1(ALMS1):c.9465C>G (p.Ser3155=) rs1398748602
NM_001378454.1(ALMS1):c.9468G>A (p.Arg3156=)
NM_001378454.1(ALMS1):c.9471A>G (p.Gln3157=) rs1273315356
NM_001378454.1(ALMS1):c.9474dup (p.Gln3159fs)
NM_001378454.1(ALMS1):c.9484A>G (p.Ile3162Val)
NM_001378454.1(ALMS1):c.9489A>G (p.Ser3163=)
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.9507C>A (p.Ser3169=) rs2103896514
NM_001378454.1(ALMS1):c.9507C>T (p.Ser3169=)
NM_001378454.1(ALMS1):c.950A>G (p.Gln317Arg)
NM_001378454.1(ALMS1):c.9510T>C (p.Asn3170=) rs1418366803
NM_001378454.1(ALMS1):c.9511C>G (p.Pro3171Ala)
NM_001378454.1(ALMS1):c.9522C>A (p.Thr3174=) rs1419983457
NM_001378454.1(ALMS1):c.9522C>T (p.Thr3174=) rs1419983457
NM_001378454.1(ALMS1):c.9524C>T (p.Pro3175Leu)
NM_001378454.1(ALMS1):c.9538C>T (p.Arg3180Ter) rs563393715
NM_001378454.1(ALMS1):c.9539+10A>C
NM_001378454.1(ALMS1):c.9539+10A>G rs1553409904
NM_001378454.1(ALMS1):c.9539+10_9539+12del rs1572970962
NM_001378454.1(ALMS1):c.9539+11T>C
NM_001378454.1(ALMS1):c.9539+13G>T
NM_001378454.1(ALMS1):c.9539+16A>C
NM_001378454.1(ALMS1):c.9539+18A>G
NM_001378454.1(ALMS1):c.9539+20C>T rs759559244
NM_001378454.1(ALMS1):c.9539+7C>T
NM_001378454.1(ALMS1):c.9540-13_9540-12del rs2103961762
NM_001378454.1(ALMS1):c.9540-15C>G
NM_001378454.1(ALMS1):c.9540-15C>T
NM_001378454.1(ALMS1):c.9540-16del rs765235024
NM_001378454.1(ALMS1):c.9540-18T>G
NM_001378454.1(ALMS1):c.9540-7dup rs750386293
NM_001378454.1(ALMS1):c.9546A>G (p.Pro3182=) rs2103961813
NM_001378454.1(ALMS1):c.9546del (p.Glu3183fs) rs2103961819
NM_001378454.1(ALMS1):c.9549G>A (p.Glu3183=)
NM_001378454.1(ALMS1):c.9549del (p.Lys3184fs)
NM_001378454.1(ALMS1):c.9554T>C (p.Met3185Thr) rs2103961851
NM_001378454.1(ALMS1):c.9555G>A (p.Met3185Ile)
NM_001378454.1(ALMS1):c.9564A>C (p.Pro3188=) rs1398767200
NM_001378454.1(ALMS1):c.9566T>C (p.Leu3189Pro)
NM_001378454.1(ALMS1):c.956A>G (p.Asn319Ser)
NM_001378454.1(ALMS1):c.9573T>C (p.Ala3191=) rs2103961933
NM_001378454.1(ALMS1):c.9576C>T (p.Phe3192=)
NM_001378454.1(ALMS1):c.9578C>T (p.Ser3193Phe)
NM_001378454.1(ALMS1):c.9584A>C (p.Lys3195Thr)
NM_001378454.1(ALMS1):c.9594T>C (p.Ser3198=)
NM_001378454.1(ALMS1):c.9598G>T (p.Ala3200Ser)
NM_001378454.1(ALMS1):c.9603C>T (p.Val3201=)
NM_001378454.1(ALMS1):c.9605C>T (p.Thr3202Ile)
NM_001378454.1(ALMS1):c.960T>C (p.Asn320=)
NM_001378454.1(ALMS1):c.9614C>G (p.Thr3205Arg)
NM_001378454.1(ALMS1):c.9615A>G (p.Thr3205=) rs2103962093
NM_001378454.1(ALMS1):c.9616A>G (p.Thr3206Ala) rs878853092
NM_001378454.1(ALMS1):c.9619_9620del (p.Glu3207fs)
NM_001378454.1(ALMS1):c.9629A>G (p.Glu3210Gly)
NM_001378454.1(ALMS1):c.9633G>T (p.Lys3211Asn) rs373013570
NM_001378454.1(ALMS1):c.9636C>A (p.Thr3212=) rs749283920
NM_001378454.1(ALMS1):c.9636C>G (p.Thr3212=) rs749283920
NM_001378454.1(ALMS1):c.9636C>T (p.Thr3212=) rs749283920
NM_001378454.1(ALMS1):c.9645A>T (p.Ser3215=)
NM_001378454.1(ALMS1):c.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.9666T>C (p.Ala3222=)
NM_001378454.1(ALMS1):c.9666T>G (p.Ala3222=) rs1264120847
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.9675T>C (p.Arg3225=)
NM_001378454.1(ALMS1):c.9677G>A (p.Gly3226Glu) rs1673640308
NM_001378454.1(ALMS1):c.9678A>G (p.Gly3226=) rs1175450599
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.9696T>C (p.Pro3232=)
NM_001378454.1(ALMS1):c.9697G>C (p.Gly3233Arg) rs757474886
NM_001378454.1(ALMS1):c.9699T>C (p.Gly3233=)
NM_001378454.1(ALMS1):c.96G>A (p.Ala32=)
NM_001378454.1(ALMS1):c.9701del (p.Asn3234fs) rs1273296127
NM_001378454.1(ALMS1):c.9702C>T (p.Asn3234=)
NM_001378454.1(ALMS1):c.970A>G (p.Ile324Val)
NM_001378454.1(ALMS1):c.9720T>A (p.Ala3240=) rs2103962507
NM_001378454.1(ALMS1):c.9721C>A (p.Pro3241Thr) rs746680944
NM_001378454.1(ALMS1):c.9723T>C (p.Pro3241=) rs2103962527
NM_001378454.1(ALMS1):c.972T>C (p.Ile324=)
NM_001378454.1(ALMS1):c.9735C>T (p.Ala3245=)
NM_001378454.1(ALMS1):c.9738A>C (p.Ser3246=)
NM_001378454.1(ALMS1):c.9738A>G (p.Ser3246=)
NM_001378454.1(ALMS1):c.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.9744T>G (p.Ser3248=)
NM_001378454.1(ALMS1):c.9747A>C (p.Ser3249=)
NM_001378454.1(ALMS1):c.9747A>G (p.Ser3249=) rs2103962624
NM_001378454.1(ALMS1):c.9751C>T (p.Gln3251Ter)
NM_001378454.1(ALMS1):c.9753A>G (p.Gln3251=) rs1553412793
NM_001378454.1(ALMS1):c.9754_9755insCTC (p.Gln3251_Gln3252insPro) rs766127195
NM_001378454.1(ALMS1):c.9760_9764dup (p.Phe3255fs)
NM_001378454.1(ALMS1):c.9765T>C (p.Phe3255=)
NM_001378454.1(ALMS1):c.9767C>G (p.Ser3256Cys) rs200922218
NM_001378454.1(ALMS1):c.976T>C (p.Ser326Pro)
NM_001378454.1(ALMS1):c.9771C>T (p.Arg3257=) rs758325542
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+17G>A rs1673645390
NM_001378454.1(ALMS1):c.9781+1G>C
NM_001378454.1(ALMS1):c.9781+7G>A
NM_001378454.1(ALMS1):c.9782-11dup rs1553414055
NM_001378454.1(ALMS1):c.9782-1269_9859del
NM_001378454.1(ALMS1):c.9782-18T>C rs995894081
NM_001378454.1(ALMS1):c.9782-18T>G rs995894081
NM_001378454.1(ALMS1):c.9782-1G>A rs1673992163
NM_001378454.1(ALMS1):c.9782-6C>T rs1414733616
NM_001378454.1(ALMS1):c.9782-8C>T rs1553414061
NM_001378454.1(ALMS1):c.9782-8del
NM_001378454.1(ALMS1):c.9782G>A (p.Gly3261Asp) rs2103991983
NM_001378454.1(ALMS1):c.9783C>A (p.Gly3261=) rs2103991992
NM_001378454.1(ALMS1):c.9785delinsGGCC (p.Gln3262delinsArgPro)
NM_001378454.1(ALMS1):c.9796T>C (p.Leu3266=) rs2103992030
NM_001378454.1(ALMS1):c.9801A>C (p.Pro3267=)
NM_001378454.1(ALMS1):c.9801A>G (p.Pro3267=) rs1673992639
NM_001378454.1(ALMS1):c.9804T>A (p.Tyr3268Ter) rs368412850
NM_001378454.1(ALMS1):c.9804T>C (p.Tyr3268=) rs368412850
NM_001378454.1(ALMS1):c.9805A>T (p.Lys3269Ter)
NM_001378454.1(ALMS1):c.9806A>C (p.Lys3269Thr)
NM_001378454.1(ALMS1):c.9809C>T (p.Pro3270Leu) rs551032553
NM_001378454.1(ALMS1):c.9810T>C (p.Pro3270=)
NM_001378454.1(ALMS1):c.9814G>A (p.Gly3272Ser) rs1673993273
NM_001378454.1(ALMS1):c.9822C>T (p.Thr3274=) rs201446579
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.9829_9832dup (p.Tyr3278fs) rs1573000963
NM_001378454.1(ALMS1):c.9834T>A (p.Tyr3278Ter) rs1573000972
NM_001378454.1(ALMS1):c.9840A>C (p.Pro3280=) rs1392755260
NM_001378454.1(ALMS1):c.9841C>T (p.Gln3281Ter)
NM_001378454.1(ALMS1):c.9843A>G (p.Gln3281=) rs1573000980
NM_001378454.1(ALMS1):c.9847A>C (p.Arg3283=) rs1224859058
NM_001378454.1(ALMS1):c.9858T>A (p.Pro3286=) rs2103992260
NM_001378454.1(ALMS1):c.9860C>T (p.Pro3287Leu)
NM_001378454.1(ALMS1):c.9861A>C (p.Pro3287=)
NM_001378454.1(ALMS1):c.9867G>C (p.Pro3289=)
NM_001378454.1(ALMS1):c.9870T>C (p.Asp3290=) rs1673994711
NM_001378454.1(ALMS1):c.9876A>G (p.Lys3292=) rs1673995110
NM_001378454.1(ALMS1):c.9879A>G (p.Ser3293=) rs2103992339
NM_001378454.1(ALMS1):c.9888C>G (p.Thr3296=)
NM_001378454.1(ALMS1):c.9889G>A (p.Val3297Ile)
NM_001378454.1(ALMS1):c.988C>T (p.Leu330=) rs187880759
NM_001378454.1(ALMS1):c.9905C>G (p.Ser3302Ter) rs1673996095
NM_001378454.1(ALMS1):c.9907+11G>A
NM_001378454.1(ALMS1):c.9907+16T>C
NM_001378454.1(ALMS1):c.9907+17A>T rs772675597
NM_001378454.1(ALMS1):c.9907+1G>A
NM_001378454.1(ALMS1):c.9907+20C>A rs74730457
NM_001378454.1(ALMS1):c.9907+7T>C rs375870610
NM_001378454.1(ALMS1):c.9908-10T>A
NM_001378454.1(ALMS1):c.9908-10T>G
NM_001378454.1(ALMS1):c.9908-13C>G rs373325114
NM_001378454.1(ALMS1):c.9908-15C>G rs1389556610
NM_001378454.1(ALMS1):c.9908-16C>A
NM_001378454.1(ALMS1):c.9908-4G>A
NM_001378454.1(ALMS1):c.9908-5T>G
NM_001378454.1(ALMS1):c.9908-6C>T rs1553416191
NM_001378454.1(ALMS1):c.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.9919_9923del (p.Ala3307fs)
NM_001378454.1(ALMS1):c.991A>G (p.Lys331Glu) rs2103715291
NM_001378454.1(ALMS1):c.9922A>G (p.Ile3308Val)
NM_001378454.1(ALMS1):c.9939A>G (p.Pro3313=)
NM_001378454.1(ALMS1):c.993A>C (p.Lys331Asn) rs1671344444
NM_001378454.1(ALMS1):c.993A>G (p.Lys331=)
NM_001378454.1(ALMS1):c.9945G>A (p.Gln3315=)
NM_001378454.1(ALMS1):c.9946G>A (p.Val3316Met)
NM_001378454.1(ALMS1):c.9948G>A (p.Val3316=)
NM_001378454.1(ALMS1):c.9951A>G (p.Leu3317=) rs1573013141
NM_001378454.1(ALMS1):c.9957_9958dup (p.Arg3320fs)
NM_001378454.1(ALMS1):c.9962A>T (p.Asp3321Val)
NM_001378454.1(ALMS1):c.9968A>G (p.Asp3323Gly) rs1573013147
NM_001378454.1(ALMS1):c.996T>C (p.Ile332=) rs760947833
NM_001378454.1(ALMS1):c.9972C>T (p.Leu3324=)
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter) rs754690894
NM_001378454.1(ALMS1):c.9976G>A (p.Ala3326Thr) rs201213079
NM_001378454.1(ALMS1):c.9978C>T (p.Ala3326=)
NM_001378454.1(ALMS1):c.9980C>T (p.Thr3327Ile)
NM_001378454.1(ALMS1):c.9981T>C (p.Thr3327=)
NM_001378454.1(ALMS1):c.9981_9987dup (p.Ile3330delinsCysTer)
NM_001378454.1(ALMS1):c.9996_9997del (p.His3332fs)
NM_001378454.1(ALMS1):c.9999A>G (p.Lys3333=)
NM_001378454.1(ALMS1):c.9C>T (p.Pro3=) rs570180164
NM_015120.4(ALMS1):c.10303delinsGA (p.Gln3435fs) rs1060500034
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla) rs746896173
NM_015120.4(ALMS1):c.1577_1579dup (p.Pro526_Leu527insPro) rs34628045
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del) rs55889738
Single allele

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