ClinVar Miner

List of variants in gene ALMS1 studied for not specified

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Gene type:
ClinVar version:
Total variants: 429
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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.324+21G>A rs11126399 0.27679
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.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.3942A>C (p.Ser1314=) rs186449817 0.00065
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly) rs201390755 0.00065
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.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.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.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.9781+19del rs751238172 0.00029
NM_001378454.1(ALMS1):c.861C>T (p.Asp287=) rs377281121 0.00028
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro) rs201213079 0.00026
NM_001378454.1(ALMS1):c.-21C>T rs530120421 0.00022
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.5918C>A (p.Pro1973Gln) rs199615641 0.00022
NM_001378454.1(ALMS1):c.12362+17_12362+18del rs768207589 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.7288A>C (p.Ser2430Arg) rs539112266 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.9389C>G (p.Pro3130Arg) rs200586877 0.00017
NM_001378454.1(ALMS1):c.9741A>G (p.Ser3247=) rs370844317 0.00017
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.8108C>T (p.Pro2703Leu) rs199604280 0.00015
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val) rs202228570 0.00015
NM_001378454.1(ALMS1):c.9633G>A (p.Lys3211=) rs373013570 0.00014
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.4394C>T (p.Thr1465Met) rs200980776 0.00013
NM_001378454.1(ALMS1):c.646+15T>G rs200821435 0.00013
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.1976C>T (p.Thr659Met) rs199682595 0.00011
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu) rs187132771 0.00011
NM_001378454.1(ALMS1):c.1867T>C (p.Ser623Pro) rs767987501 0.00010
NM_001378454.1(ALMS1):c.3103C>T (p.Pro1035Ser) rs531648685 0.00010
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803 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.3395A>G (p.Gln1132Arg) rs202114540 0.00009
NM_001378454.1(ALMS1):c.5982G>A (p.Glu1994=) rs186849322 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.11748G>A (p.Glu3916=) rs373364340 0.00007
NM_001378454.1(ALMS1):c.12362G>A (p.Arg4121Gln) rs376602261 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.9449G>A (p.Ser3150Asn) rs34029285 0.00007
NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp) rs573748379 0.00006
NM_001378454.1(ALMS1):c.1237+9C>G rs201471551 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.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.4405C>A (p.Pro1469Thr) rs373638043 0.00006
NM_001378454.1(ALMS1):c.9495C>T (p.Phe3165=) rs45607436 0.00006
NM_001378454.1(ALMS1):c.1710A>C (p.Val570=) rs201095989 0.00005
NM_001378454.1(ALMS1):c.2874C>T (p.Ser958=) rs541122374 0.00005
NM_001378454.1(ALMS1):c.3860C>T (p.Ser1287Leu) rs375231416 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.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.6299A>T (p.Lys2100Ile) rs373286582 0.00005
NM_001378454.1(ALMS1):c.8961T>A (p.Leu2987=) rs201937708 0.00005
NM_001378454.1(ALMS1):c.9733G>A (p.Ala3245Thr) rs200432874 0.00005
NM_001378454.1(ALMS1):c.10858A>C (p.Arg3620=) rs201598829 0.00004
NM_001378454.1(ALMS1):c.11032C>T (p.Arg3678Trp) rs766771102 0.00004
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=) rs750087396 0.00004
NM_001378454.1(ALMS1):c.1238-9A>G rs372652836 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.1695T>C (p.Thr565=) rs368992526 0.00004
NM_001378454.1(ALMS1):c.3319T>C (p.Tyr1107His) rs746162373 0.00004
NM_001378454.1(ALMS1):c.4324G>T (p.Val1442Phe) rs375842278 0.00004
NM_001378454.1(ALMS1):c.451-5T>G rs774098604 0.00004
NM_001378454.1(ALMS1):c.5355T>G (p.Val1785=) rs1420283861 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.7464A>G (p.Gln2488=) rs765766155 0.00004
NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln) rs778162209 0.00004
NM_001378454.1(ALMS1):c.9782-19C>A rs777706370 0.00004
NM_001378454.1(ALMS1):c.11283C>T (p.Val3761=) rs183916999 0.00003
NM_001378454.1(ALMS1):c.11696A>G (p.Lys3899Arg) rs1347288383 0.00003
NM_001378454.1(ALMS1):c.11798G>A (p.Arg3933His) rs45576434 0.00003
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=) rs750362630 0.00003
NM_001378454.1(ALMS1):c.2196C>T (p.Asp732=) rs754758293 0.00003
NM_001378454.1(ALMS1):c.2515G>A (p.Ala839Thr) rs1356972872 0.00003
NM_001378454.1(ALMS1):c.3076G>C (p.Ala1026Pro) rs201451396 0.00003
NM_001378454.1(ALMS1):c.3484A>G (p.Thr1162Ala) rs763680884 0.00003
NM_001378454.1(ALMS1):c.5909T>C (p.Val1970Ala) rs765405386 0.00003
NM_001378454.1(ALMS1):c.6379C>T (p.Pro2127Ser) rs771800459 0.00003
NM_001378454.1(ALMS1):c.6976A>G (p.Ser2326Gly) rs560736902 0.00003
NM_001378454.1(ALMS1):c.7199G>A (p.Gly2400Glu) rs373985919 0.00003
NM_001378454.1(ALMS1):c.7892C>T (p.Ala2631Val) rs1027248513 0.00003
NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser) rs553507775 0.00003
NM_001378454.1(ALMS1):c.10020G>A (p.Arg3340=) rs746166271 0.00002
NM_001378454.1(ALMS1):c.10261C>A (p.Pro3421Thr) rs763306448 0.00002
NM_001378454.1(ALMS1):c.10817G>A (p.Arg3606Gln) rs148044176 0.00002
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr) rs45630562 0.00002
NM_001378454.1(ALMS1):c.12321C>T (p.Asn4107=) rs767420244 0.00002
NM_001378454.1(ALMS1):c.1731T>C (p.His577=) rs768761501 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.3048G>A (p.Glu1016=) rs765275016 0.00002
NM_001378454.1(ALMS1):c.3591A>G (p.Lys1197=) rs773852068 0.00002
NM_001378454.1(ALMS1):c.3881G>C (p.Ser1294Thr) rs373835067 0.00002
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala) rs760866713 0.00002
NM_001378454.1(ALMS1):c.4314C>T (p.Phe1438=) rs541180403 0.00002
NM_001378454.1(ALMS1):c.6441A>G (p.Lys2147=) rs776254949 0.00002
NM_001378454.1(ALMS1):c.7541-6C>T rs1408073039 0.00002
NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu) rs996036496 0.00002
NM_001378454.1(ALMS1):c.9075A>G (p.Pro3025=) rs1278648561 0.00002
NM_001378454.1(ALMS1):c.9324A>G (p.Ala3108=) rs747570402 0.00002
NM_001378454.1(ALMS1):c.9708G>A (p.Lys3236=) rs574095166 0.00002
NM_001378454.1(ALMS1):c.9928C>T (p.Pro3310Ser) rs775666186 0.00002
NM_001378454.1(ALMS1):c.10058C>G (p.Pro3353Arg) rs760647310 0.00001
NM_001378454.1(ALMS1):c.10078+2dup rs755740074 0.00001
NM_001378454.1(ALMS1):c.10526A>G (p.His3509Arg) rs1674949532 0.00001
NM_001378454.1(ALMS1):c.11073G>A (p.Glu3691=) rs1421582809 0.00001
NM_001378454.1(ALMS1):c.11143A>G (p.Lys3715Glu) rs765505349 0.00001
NM_001378454.1(ALMS1):c.1126A>T (p.Thr376Ser) rs376750978 0.00001
NM_001378454.1(ALMS1):c.11310T>C (p.Asp3770=) rs1438099503 0.00001
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn) rs767078704 0.00001
NM_001378454.1(ALMS1):c.11560G>A (p.Val3854Met) rs757475077 0.00001
NM_001378454.1(ALMS1):c.1197A>G (p.Thr399=) rs756136557 0.00001
NM_001378454.1(ALMS1):c.12299-19C>T rs1553422031 0.00001
NM_001378454.1(ALMS1):c.12463-14C>G rs766656843 0.00001
NM_001378454.1(ALMS1):c.1521A>C (p.Gly507=) rs760374410 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.1927G>A (p.Glu643Lys) rs769734500 0.00001
NM_001378454.1(ALMS1):c.2136C>T (p.Leu712=) rs747504060 0.00001
NM_001378454.1(ALMS1):c.2191G>A (p.Ala731Thr) rs1337404560 0.00001
NM_001378454.1(ALMS1):c.2322C>T (p.Tyr774=) rs752503817 0.00001
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala) rs772260271 0.00001
NM_001378454.1(ALMS1):c.2472C>G (p.Ala824=) rs368270850 0.00001
NM_001378454.1(ALMS1):c.3062A>T (p.Tyr1021Phe) rs574757598 0.00001
NM_001378454.1(ALMS1):c.3266C>G (p.Thr1089Arg) rs556855697 0.00001
NM_001378454.1(ALMS1):c.3268C>G (p.Pro1090Ala) rs376232524 0.00001
NM_001378454.1(ALMS1):c.3407C>T (p.Thr1136Ile) rs756805885 0.00001
NM_001378454.1(ALMS1):c.4181A>G (p.Gln1394Arg) rs368955191 0.00001
NM_001378454.1(ALMS1):c.4454T>C (p.Ile1485Thr) rs564400636 0.00001
NM_001378454.1(ALMS1):c.4709C>T (p.Ser1570Phe) rs765461259 0.00001
NM_001378454.1(ALMS1):c.4765C>A (p.His1589Asn) rs771703863 0.00001
NM_001378454.1(ALMS1):c.4789G>A (p.Val1597Ile) rs759914299 0.00001
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala) rs546111188 0.00001
NM_001378454.1(ALMS1):c.5575A>G (p.Ile1859Val) rs1558650343 0.00001
NM_001378454.1(ALMS1):c.5887G>A (p.Glu1963Lys) rs45484791 0.00001
NM_001378454.1(ALMS1):c.6071A>C (p.Lys2024Thr) rs369339997 0.00001
NM_001378454.1(ALMS1):c.6071A>G (p.Lys2024Arg) rs369339997 0.00001
NM_001378454.1(ALMS1):c.6629A>T (p.Asn2210Ile) rs1026749292 0.00001
NM_001378454.1(ALMS1):c.7067C>T (p.Ser2356Leu) rs757852651 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.7559A>G (p.Asn2520Ser) rs377085127 0.00001
NM_001378454.1(ALMS1):c.7743C>T (p.Ser2581=) rs370740871 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.8138C>T (p.Thr2713Ile) rs1672944551 0.00001
NM_001378454.1(ALMS1):c.8421A>G (p.Gln2807=) rs774574310 0.00001
NM_001378454.1(ALMS1):c.8655A>G (p.Arg2885=) rs377249623 0.00001
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=) rs777796888 0.00001
NM_001378454.1(ALMS1):c.901A>C (p.Ile301Leu) rs534913971 0.00001
NM_001378454.1(ALMS1):c.9073C>A (p.Pro3025Thr) rs773480197 0.00001
NM_001378454.1(ALMS1):c.9138T>C (p.Cys3046=) rs779818117 0.00001
NM_001378454.1(ALMS1):c.9318T>G (p.Pro3106=) rs771679163 0.00001
NM_001378454.1(ALMS1):c.9392C>T (p.Ser3131Phe) rs144588413 0.00001
NM_001378454.1(ALMS1):c.953G>A (p.Gly318Glu) rs372886271 0.00001
NM_001378454.1(ALMS1):c.9545C>T (p.Pro3182Leu) rs1475730829 0.00001
NM_001378454.1(ALMS1):c.9553A>T (p.Met3185Leu) rs1421714540 0.00001
NM_001378454.1(ALMS1):c.9639A>G (p.Leu3213=) rs566943393 0.00001
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe) rs771768835 0.00001
NM_001378454.1(ALMS1):c.9693G>A (p.Glu3231=) rs764518519 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.9867G>A (p.Pro3289=) rs773900415 0.00001
NM_001378454.1(ALMS1):c.9871T>C (p.Ser3291Pro) rs759591871 0.00001
NM_001378454.1(ALMS1):c.9897C>T (p.Ser3299=) rs1217540541 0.00001
NC_000002.11:g.(73682423_73716760)_(73762077_73777393)dup
NM_001378454.1(ALMS1):c.10051G>C (p.Glu3351Gln)
NM_001378454.1(ALMS1):c.10213+12G>A rs527508238
NM_001378454.1(ALMS1):c.10213+7A>G rs1553416882
NM_001378454.1(ALMS1):c.10214-12dup rs543855806
NM_001378454.1(ALMS1):c.10462G>T (p.Val3488Leu) rs1057523167
NM_001378454.1(ALMS1):c.10572A>G (p.Glu3524=) rs1335438080
NM_001378454.1(ALMS1):c.10577T>G (p.Met3526Arg)
NM_001378454.1(ALMS1):c.10827G>C (p.Gln3609His) rs2104105279
NM_001378454.1(ALMS1):c.10869G>C (p.Leu3623=) rs775336312
NM_001378454.1(ALMS1):c.10870T>C (p.Ser3624Pro) rs1573030477
NM_001378454.1(ALMS1):c.10928C>G (p.Ser3643Cys)
NM_001378454.1(ALMS1):c.1093G>A (p.Asp365Asn) rs1229379546
NM_001378454.1(ALMS1):c.11045_11056del (p.Leu3682_Ser3685del) rs757734472
NM_001378454.1(ALMS1):c.1123A>T (p.Ile375Leu) rs886038611
NM_001378454.1(ALMS1):c.11316G>T (p.Glu3772Asp) rs1019748558
NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys) rs3813227
NM_001378454.1(ALMS1):c.12362+16_12362+17del rs563514664
NM_001378454.1(ALMS1):c.12362+16_12362+18delinsT
NM_001378454.1(ALMS1):c.12362+16_12362+27delinsTGAGTTTGTG rs1064795877
NM_001378454.1(ALMS1):c.12362+16_12362+29delinsTGAGTTTGTGTG rs1064795814
NM_001378454.1(ALMS1):c.12362+17_12362+27delinsGAGTTTGTG rs1064796118
NM_001378454.1(ALMS1):c.12398_12401del (p.Arg4133fs) rs761223068
NM_001378454.1(ALMS1):c.12411_12415del (p.Arg4138fs) rs2104216255
NM_001378454.1(ALMS1):c.12448C>T (p.Gln4150Ter) rs2104216417
NM_001378454.1(ALMS1):c.1245G>T (p.Leu415=) rs1553400953
NM_001378454.1(ALMS1):c.12475C>T (p.Gln4159Ter)
NM_001378454.1(ALMS1):c.12481C>T (p.Leu4161=)
NM_001378454.1(ALMS1):c.1399A>T (p.Thr467Ser)
NM_001378454.1(ALMS1):c.1433-64dup rs66492706
NM_001378454.1(ALMS1):c.1433-9_1433-8insCTT rs1064795791
NM_001378454.1(ALMS1):c.1570_1572dup (p.Ser524dup) rs797045226
NM_001378454.1(ALMS1):c.1571CTC[1] (p.Pro525del) rs34628045
NM_001378454.1(ALMS1):c.2008T>A (p.Ser670Thr)
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly) rs115444326
NM_001378454.1(ALMS1):c.207C>T (p.Asp69=) rs752874408
NM_001378454.1(ALMS1):c.2199T>A (p.Ser733Arg) rs1671860790
NM_001378454.1(ALMS1):c.234C>G (p.Ala78=) rs368947491
NM_001378454.1(ALMS1):c.2416G>C (p.Val806Leu) rs138921247
NM_001378454.1(ALMS1):c.2436A>G (p.Ser812=) rs925267503
NM_001378454.1(ALMS1):c.2471C>A (p.Ala824Asp) rs754424459
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=) rs77517267
NM_001378454.1(ALMS1):c.2555C>T (p.Ala852Val)
NM_001378454.1(ALMS1):c.2726C>T (p.Ser909Leu) rs746640196
NM_001378454.1(ALMS1):c.3091A>G (p.Thr1031Ala)
NM_001378454.1(ALMS1):c.3323A>C (p.Gln1108Pro) rs570286860
NM_001378454.1(ALMS1):c.3325C>A (p.Gln1109Lys) rs1671890891
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile) rs752342634
NM_001378454.1(ALMS1):c.3690G>A (p.Gly1230=) rs1057523614
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[14] (p.Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[17] (p.Glu25_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[19] (p.Glu23_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[20] (p.Glu22_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[21] (p.Glu21_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[8] (p.Glu24_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36_74= (p.Leu12_Glu25=) rs55889738
NM_001378454.1(ALMS1):c.3730A>G (p.Lys1244Glu) rs757303904
NM_001378454.1(ALMS1):c.3731A>T (p.Lys1244Met) rs1671903375
NM_001378454.1(ALMS1):c.3763G>C (p.Asp1255His)
NM_001378454.1(ALMS1):c.384A>G (p.Thr128=) rs1671018024
NM_001378454.1(ALMS1):c.3922G>A (p.Glu1308Lys)
NM_001378454.1(ALMS1):c.4084G>C (p.Val1362Leu) rs534858351
NM_001378454.1(ALMS1):c.4111A>G (p.Thr1371Ala) rs1572934899
NM_001378454.1(ALMS1):c.4238G>C (p.Gly1413Ala) rs886038612
NM_001378454.1(ALMS1):c.45G>A (p.Glu15=) rs1558624512
NM_001378454.1(ALMS1):c.4601A>G (p.Tyr1534Cys) rs751003573
NM_001378454.1(ALMS1):c.4713C>T (p.Tyr1571=) rs2103783750
NM_001378454.1(ALMS1):c.4808C>G (p.Pro1603Arg) rs1572935792
NM_001378454.1(ALMS1):c.4824_4826del (p.Asp1609del) rs1057518311
NM_001378454.1(ALMS1):c.4989T>C (p.Thr1663=) rs774538998
NM_001378454.1(ALMS1):c.5088A>C (p.Gly1696=) rs2103785042
NM_001378454.1(ALMS1):c.5111C>T (p.Thr1704Ile) rs755683870
NM_001378454.1(ALMS1):c.5183A>G (p.Asp1728Gly) rs879255405
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu) rs962844498
NM_001378454.1(ALMS1):c.5362G>A (p.Val1788Ile) rs1224043321
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile) rs1131691296
NM_001378454.1(ALMS1):c.5394A>G (p.Val1798=) rs1269563462
NM_001378454.1(ALMS1):c.5440G>T (p.Val1814Phe)
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu) rs200925575
NM_001378454.1(ALMS1):c.5457G>A (p.Glu1819=) rs886038613
NM_001378454.1(ALMS1):c.5496A>G (p.Arg1832=) rs1572936704
NM_001378454.1(ALMS1):c.557A>T (p.Asp186Val) rs375830111
NM_001378454.1(ALMS1):c.5602C>A (p.Leu1868Ile) rs1553404102
NM_001378454.1(ALMS1):c.5620A>G (p.Lys1874Glu) rs886038614
NM_001378454.1(ALMS1):c.5634T>C (p.Val1878=) rs1057524275
NM_001378454.1(ALMS1):c.5828G>T (p.Arg1943Leu) rs146669152
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.6304A>C (p.Asn2102His) rs1386959032
NM_001378454.1(ALMS1):c.63G>A (p.Glu21=) rs1004961829
NM_001378454.1(ALMS1):c.6523G>A (p.Ala2175Thr) rs1572937937
NM_001378454.1(ALMS1):c.65_66insAGA (p.Glu28dup) rs1553396148
NM_001378454.1(ALMS1):c.668C>A (p.Ser223Tyr) rs886038615
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.6824A>G (p.Lys2275Arg) rs1057518307
NM_001378454.1(ALMS1):c.6854G>T (p.Arg2285Leu) rs6546839
NM_001378454.1(ALMS1):c.6864T>G (p.Asp2288Glu) rs2103791762
NM_001378454.1(ALMS1):c.68_69insAGAGGA (p.Glu27_Glu28dup) rs756301830
NM_001378454.1(ALMS1):c.7193C>T (p.Thr2398Ile) rs200470452
NM_001378454.1(ALMS1):c.7331T>A (p.Leu2444Gln)
NM_001378454.1(ALMS1):c.7377C>T (p.Ser2459=) rs867561704
NM_001378454.1(ALMS1):c.7414G>C (p.Gly2472Arg) rs1672006091
NM_001378454.1(ALMS1):c.7473C>T (p.Ser2491=) rs1572938980
NM_001378454.1(ALMS1):c.75_80del (p.Glu27_Glu28del) rs754175473
NM_001378454.1(ALMS1):c.764+17G>T rs1057524596
NM_001378454.1(ALMS1):c.764+18C>T rs1553400459
NM_001378454.1(ALMS1):c.7675-13_7675-10del
NM_001378454.1(ALMS1):c.77_85del (p.Glu26_Glu28del) rs797045229
NM_001378454.1(ALMS1):c.7836G>A (p.Met2612Ile)
NM_001378454.1(ALMS1):c.8114C>T (p.Pro2705Leu)
NM_001378454.1(ALMS1):c.8122A>G (p.Met2708Val) rs371904071
NM_001378454.1(ALMS1):c.8160C>T (p.His2720=) rs992844961
NM_001378454.1(ALMS1):c.8211T>C (p.Thr2737=) rs759935089
NM_001378454.1(ALMS1):c.8224T>G (p.Cys2742Gly) rs774945791
NM_001378454.1(ALMS1):c.8268A>G (p.Glu2756=) rs886038616
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala) rs369650940
NM_001378454.1(ALMS1):c.8345A>G (p.Asp2782Gly) rs1672950843
NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=) rs886038617
NM_001378454.1(ALMS1):c.8721T>C (p.Ser2907=) rs1386201636
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg) rs574785830
NM_001378454.1(ALMS1):c.8898T>A (p.Leu2966=) rs1572970207
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup) rs746896173
NM_001378454.1(ALMS1):c.9304T>C (p.Leu3102=) rs537370242
NM_001378454.1(ALMS1):c.942T>C (p.Pro314=) rs886038618
NM_001378454.1(ALMS1):c.9540-11T>C
NM_001378454.1(ALMS1):c.9914A>T (p.Asn3305Ile)
NM_015120.4(ALMS1):c.-45C>G rs539250179
NM_015120.4(ALMS1):c.1577_1579dup (p.Pro526_Leu527insPro) rs34628045

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