ClinVar Miner

List of variants reported as uncertain significance for Alstrom syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2349
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys) rs201816596 0.00068
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu) rs200266868 0.00064
NM_001378454.1(ALMS1):c.4024G>A (p.Val1342Ile) rs751346260 0.00062
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro) rs202227966 0.00058
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln) rs201673771 0.00058
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala) rs200467041 0.00051
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala) rs200054604 0.00048
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser) rs199917289 0.00045
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile) rs200529564 0.00042
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val) rs202111717 0.00041
NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala) rs201804994 0.00039
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser) rs201971114 0.00037
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val) rs200075429 0.00036
NM_001378454.1(ALMS1):c.6950T>C (p.Leu2317Pro) rs185469456 0.00033
NM_001378454.1(ALMS1):c.11939C>T (p.Thr3980Ile) rs200568988 0.00032
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile) rs373211307 0.00032
NM_001378454.1(ALMS1):c.11626A>G (p.Asn3876Asp) rs377130177 0.00026
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr) rs369682692 0.00026
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro) rs201213079 0.00026
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro) rs201517720 0.00025
NM_001378454.1(ALMS1):c.8765T>C (p.Ile2922Thr) rs201738475 0.00024
NM_001378454.1(ALMS1):c.12044G>A (p.Gly4015Asp) rs200462734 0.00022
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp) rs374663067 0.00022
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu) rs372619046 0.00022
NM_001378454.1(ALMS1):c.4543G>A (p.Ala1515Thr) rs183839621 0.00022
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln) rs199615641 0.00022
NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu) rs766187468 0.00021
NM_001378454.1(ALMS1):c.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.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.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.8644C>T (p.Leu2882Phe) rs373944325 0.00016
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys) rs200293447 0.00015
NM_001378454.1(ALMS1):c.6812A>G (p.Asn2271Ser) rs111659663 0.00015
NM_001378454.1(ALMS1):c.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.11953A>G (p.Ile3985Val) rs201728850 0.00014
NM_001378454.1(ALMS1):c.331C>G (p.Pro111Ala) rs368354870 0.00014
NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg) rs371516347 0.00014
NM_001378454.1(ALMS1):c.4259G>T (p.Gly1420Val) rs1445492577 0.00014
NM_001378454.1(ALMS1):c.5117C>T (p.Ser1706Leu) rs1187000436 0.00014
NM_001378454.1(ALMS1):c.5466T>A (p.His1822Gln) rs201677365 0.00014
NM_001378454.1(ALMS1):c.10651A>G (p.Asn3551Asp) rs200992340 0.00013
NM_001378454.1(ALMS1):c.11213G>A (p.Arg3738Gln) rs200378498 0.00013
NM_001378454.1(ALMS1):c.121G>C (p.Val41Leu) rs201868751 0.00013
NM_001378454.1(ALMS1):c.4394C>T (p.Thr1465Met) rs200980776 0.00013
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu) rs376989302 0.00013
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr) rs368957150 0.00012
NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser) rs187887110 0.00012
NM_001378454.1(ALMS1):c.12251G>T (p.Arg4084Met) rs375314465 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.6361G>C (p.Val2121Leu) rs200368564 0.00012
NM_001378454.1(ALMS1):c.109G>C (p.Val37Leu) rs774784126 0.00011
NM_001378454.1(ALMS1):c.12114+4C>T rs373191489 0.00011
NM_001378454.1(ALMS1):c.12151C>T (p.Arg4051Cys) rs201874056 0.00011
NM_001378454.1(ALMS1):c.1976C>T (p.Thr659Met) rs199682595 0.00011
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu) rs187132771 0.00011
NM_001378454.1(ALMS1):c.4886G>A (p.Arg1629Gln) rs142917664 0.00011
NM_001378454.1(ALMS1):c.5842A>G (p.Ser1948Gly) rs367728446 0.00011
NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg) rs150331660 0.00011
NM_001378454.1(ALMS1):c.6379C>T (p.Pro2127Ser) rs771800459 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.12086T>C (p.Leu4029Pro) rs372910832 0.00010
NM_001378454.1(ALMS1):c.1433-3T>C rs367710998 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.1061C>T (p.Thr354Ile) rs370726988 0.00009
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile) rs549757247 0.00009
NM_001378454.1(ALMS1):c.12119C>T (p.Ser4040Leu) rs763327026 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.8C>T (p.Pro3Leu) rs914898490 0.00009
NM_001378454.1(ALMS1):c.11971A>G (p.Ile3991Val) rs368146962 0.00008
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803 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.12005G>A (p.Arg4002Gln) rs375923289 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.3965A>G (p.Gln1322Arg) rs1251705223 0.00007
NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly) rs868269804 0.00007
NM_001378454.1(ALMS1):c.9449G>A (p.Ser3150Asn) rs34029285 0.00007
NM_001378454.1(ALMS1):c.974C>T (p.Ser325Leu) rs376632767 0.00007
NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp) rs573748379 0.00006
NM_001378454.1(ALMS1):c.10704A>C (p.Arg3568Ser) rs758987316 0.00006
NM_001378454.1(ALMS1):c.11414G>A (p.Arg3805Gln) rs201646938 0.00006
NM_001378454.1(ALMS1):c.11968C>G (p.Pro3990Ala) rs189851617 0.00006
NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr) rs757364858 0.00006
NM_001378454.1(ALMS1):c.12330C>G (p.Ile4110Met) rs375524122 0.00006
NM_001378454.1(ALMS1):c.12389A>G (p.Gln4130Arg) rs371587051 0.00006
NM_001378454.1(ALMS1):c.1834A>C (p.Thr612Pro) rs775286973 0.00006
NM_001378454.1(ALMS1):c.2570C>T (p.Ser857Phe) rs538743256 0.00006
NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His) rs181507134 0.00006
NM_001378454.1(ALMS1):c.3578C>T (p.Ser1193Leu) rs200636395 0.00006
NM_001378454.1(ALMS1):c.3944C>T (p.Ala1315Val) rs750671777 0.00006
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr) rs373638043 0.00006
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys) rs370398704 0.00006
NM_001378454.1(ALMS1):c.7277G>C (p.Cys2426Ser) rs35649068 0.00006
NM_001378454.1(ALMS1):c.7359G>T (p.Lys2453Asn) rs1400122858 0.00006
NM_001378454.1(ALMS1):c.757C>T (p.Pro253Ser) rs368153355 0.00006
NM_001378454.1(ALMS1):c.7846C>T (p.Arg2616Trp) rs145383239 0.00006
NM_001378454.1(ALMS1):c.8168C>A (p.Ser2723Tyr) rs368409205 0.00006
NM_001378454.1(ALMS1):c.8416T>G (p.Phe2806Val) rs763332859 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.12350A>G (p.Gln4117Arg) rs200038446 0.00005
NM_001378454.1(ALMS1):c.1867T>C (p.Ser623Pro) rs767987501 0.00005
NM_001378454.1(ALMS1):c.2629A>G (p.Asn877Asp) rs776351580 0.00005
NM_001378454.1(ALMS1):c.3088T>A (p.Ser1030Thr) rs1023974968 0.00005
NM_001378454.1(ALMS1):c.3860C>T (p.Ser1287Leu) rs375231416 0.00005
NM_001378454.1(ALMS1):c.4173C>A (p.Phe1391Leu) rs370406004 0.00005
NM_001378454.1(ALMS1):c.4286A>G (p.Tyr1429Cys) rs763136053 0.00005
NM_001378454.1(ALMS1):c.4483C>G (p.Leu1495Val) rs373213201 0.00005
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala) rs770424780 0.00005
NM_001378454.1(ALMS1):c.5074C>T (p.Pro1692Ser) rs764039432 0.00005
NM_001378454.1(ALMS1):c.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.7367T>C (p.Ile2456Thr) rs894421376 0.00005
NM_001378454.1(ALMS1):c.7402A>G (p.Ser2468Gly) rs1007457582 0.00005
NM_001378454.1(ALMS1):c.820A>C (p.Ser274Arg) rs761800808 0.00005
NM_001378454.1(ALMS1):c.9733G>A (p.Ala3245Thr) rs200432874 0.00005
NM_001378454.1(ALMS1):c.9769C>T (p.Arg3257Cys) rs373998843 0.00005
NM_001378454.1(ALMS1):c.9937C>G (p.Pro3313Ala) rs762967276 0.00005
NM_001378454.1(ALMS1):c.10823G>A (p.Arg3608Gln) rs752052259 0.00004
NM_001378454.1(ALMS1):c.11032C>T (p.Arg3678Trp) rs766771102 0.00004
NM_001378454.1(ALMS1):c.11293A>G (p.Ile3765Val) rs758062371 0.00004
NM_001378454.1(ALMS1):c.11567C>T (p.Ser3856Phe) rs1414717577 0.00004
NM_001378454.1(ALMS1):c.11863T>G (p.Ser3955Ala) rs45528134 0.00004
NM_001378454.1(ALMS1):c.11888T>C (p.Val3963Ala) rs201777220 0.00004
NM_001378454.1(ALMS1):c.11893G>T (p.Val3965Leu) rs199683521 0.00004
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser) rs541576664 0.00004
NM_001378454.1(ALMS1):c.12173G>A (p.Arg4058His) rs61743400 0.00004
NM_001378454.1(ALMS1):c.12284C>T (p.Pro4095Leu) rs750502331 0.00004
NM_001378454.1(ALMS1):c.1339C>G (p.Pro447Ala) rs377283762 0.00004
NM_001378454.1(ALMS1):c.1400C>T (p.Thr467Ile) rs201990757 0.00004
NM_001378454.1(ALMS1):c.1420C>A (p.His474Asn) rs200454461 0.00004
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp) rs531859344 0.00004
NM_001378454.1(ALMS1):c.1971G>T (p.Gln657His) rs753296810 0.00004
NM_001378454.1(ALMS1):c.2269C>T (p.Pro757Ser) rs200827630 0.00004
NM_001378454.1(ALMS1):c.2434T>G (p.Ser812Ala) rs376991574 0.00004
NM_001378454.1(ALMS1):c.311C>T (p.Thr104Ile) rs1394136837 0.00004
NM_001378454.1(ALMS1):c.3319T>C (p.Tyr1107His) rs746162373 0.00004
NM_001378454.1(ALMS1):c.3464A>C (p.His1155Pro) rs553406974 0.00004
NM_001378454.1(ALMS1):c.4324G>T (p.Val1442Phe) rs375842278 0.00004
NM_001378454.1(ALMS1):c.4448T>C (p.Ile1483Thr) rs370271775 0.00004
NM_001378454.1(ALMS1):c.4795A>G (p.Ile1599Val) rs377671796 0.00004
NM_001378454.1(ALMS1):c.5267C>G (p.Ser1756Cys) rs761486372 0.00004
NM_001378454.1(ALMS1):c.536C>T (p.Thr179Met) rs768531502 0.00004
NM_001378454.1(ALMS1):c.5444C>T (p.Ser1815Phe) rs528863432 0.00004
NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu) rs191286546 0.00004
NM_001378454.1(ALMS1):c.6458A>G (p.Gln2153Arg) rs534635095 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.7199G>A (p.Gly2400Glu) rs373985919 0.00004
NM_001378454.1(ALMS1):c.7276T>G (p.Cys2426Gly) rs549778430 0.00004
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr) rs760068474 0.00004
NM_001378454.1(ALMS1):c.7445A>G (p.His2482Arg) rs199698329 0.00004
NM_001378454.1(ALMS1):c.7525C>T (p.Arg2509Trp) rs34183407 0.00004
NM_001378454.1(ALMS1):c.7577G>A (p.Gly2526Glu) rs201654702 0.00004
NM_001378454.1(ALMS1):c.777T>G (p.Asp259Glu) rs190445250 0.00004
NM_001378454.1(ALMS1):c.7812C>G (p.Phe2604Leu) rs201739856 0.00004
NM_001378454.1(ALMS1):c.7816T>C (p.Ser2606Pro) rs532551687 0.00004
NM_001378454.1(ALMS1):c.8035T>G (p.Trp2679Gly) rs1403694361 0.00004
NM_001378454.1(ALMS1):c.8074A>G (p.Lys2692Glu) rs201025991 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.9386A>C (p.Gln3129Pro) rs372015288 0.00004
NM_001378454.1(ALMS1):c.955A>G (p.Asn319Asp) rs376892136 0.00004
NM_001378454.1(ALMS1):c.9713G>A (p.Arg3238His) rs1176919572 0.00004
NM_001378454.1(ALMS1):c.9770G>A (p.Arg3257His) rs748153319 0.00004
NM_001378454.1(ALMS1):c.9866C>T (p.Pro3289Leu) rs369660958 0.00004
NM_001378454.1(ALMS1):c.10985A>G (p.Glu3662Gly) rs377418428 0.00003
NM_001378454.1(ALMS1):c.11365C>T (p.Arg3789Trp) rs752623561 0.00003
NM_001378454.1(ALMS1):c.11798G>A (p.Arg3933His) rs45576434 0.00003
NM_001378454.1(ALMS1):c.11854A>G (p.Lys3952Glu) rs771282076 0.00003
NM_001378454.1(ALMS1):c.11959T>C (p.Trp3987Arg) rs375540445 0.00003
NM_001378454.1(ALMS1):c.11994G>C (p.Arg3998Ser) rs28730862 0.00003
NM_001378454.1(ALMS1):c.12152G>A (p.Arg4051His) rs750598025 0.00003
NM_001378454.1(ALMS1):c.12257G>A (p.Arg4086Gln) rs917280846 0.00003
NM_001378454.1(ALMS1):c.12275G>A (p.Arg4092His) rs748624161 0.00003
NM_001378454.1(ALMS1):c.1432+4C>T rs200933935 0.00003
NM_001378454.1(ALMS1):c.1607C>G (p.Thr536Ser) rs766105909 0.00003
NM_001378454.1(ALMS1):c.169G>A (p.Asp57Asn) rs773881728 0.00003
NM_001378454.1(ALMS1):c.1772A>T (p.Asp591Val) rs541118531 0.00003
NM_001378454.1(ALMS1):c.1856C>T (p.Ser619Phe) rs377341653 0.00003
NM_001378454.1(ALMS1):c.2107G>C (p.Asp703His) rs756176783 0.00003
NM_001378454.1(ALMS1):c.2128A>G (p.Thr710Ala) rs367641723 0.00003
NM_001378454.1(ALMS1):c.2134C>G (p.Leu712Val) rs371524359 0.00003
NM_001378454.1(ALMS1):c.245C>T (p.Ala82Val) rs747750620 0.00003
NM_001378454.1(ALMS1):c.2486A>G (p.His829Arg) rs370830603 0.00003
NM_001378454.1(ALMS1):c.2515G>A (p.Ala839Thr) rs1356972872 0.00003
NM_001378454.1(ALMS1):c.2714C>G (p.Ser905Cys) rs748479099 0.00003
NM_001378454.1(ALMS1):c.3076G>C (p.Ala1026Pro) rs201451396 0.00003
NM_001378454.1(ALMS1):c.3568A>G (p.Thr1190Ala) rs772287164 0.00003
NM_001378454.1(ALMS1):c.3959C>G (p.Ala1320Gly) rs1399638135 0.00003
NM_001378454.1(ALMS1):c.4267A>T (p.Thr1423Ser) rs746145270 0.00003
NM_001378454.1(ALMS1):c.4435G>A (p.Gly1479Arg) rs750765175 0.00003
NM_001378454.1(ALMS1):c.4447A>G (p.Ile1483Val) rs749573527 0.00003
NM_001378454.1(ALMS1):c.4883A>G (p.Tyr1628Cys) rs375939859 0.00003
NM_001378454.1(ALMS1):c.4907C>T (p.Pro1636Leu) rs775768298 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.5849T>C (p.Ile1950Thr) rs773754661 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.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.6816G>A (p.Met2272Ile) rs765233946 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.7892C>T (p.Ala2631Val) rs1027248513 0.00003
NM_001378454.1(ALMS1):c.7983A>T (p.Glu2661Asp) rs1213279792 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.8257C>A (p.His2753Asn) rs200718841 0.00003
NM_001378454.1(ALMS1):c.8489G>A (p.Cys2830Tyr) rs369720907 0.00003
NM_001378454.1(ALMS1):c.8890A>G (p.Ile2964Val) rs529506570 0.00003
NM_001378454.1(ALMS1):c.8920C>T (p.Pro2974Ser) rs1043429291 0.00003
NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser) rs553507775 0.00003
NM_001378454.1(ALMS1):c.9565C>T (p.Leu3189Phe) rs376367125 0.00003
NM_001378454.1(ALMS1):c.10081G>T (p.Ala3361Ser) rs770904502 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.10550A>G (p.His3517Arg) rs753393562 0.00002
NM_001378454.1(ALMS1):c.10630A>G (p.Arg3544Gly) rs773075850 0.00002
NM_001378454.1(ALMS1):c.10817G>A (p.Arg3606Gln) rs148044176 0.00002
NM_001378454.1(ALMS1):c.10832A>G (p.Gln3611Arg) rs45452795 0.00002
NM_001378454.1(ALMS1):c.11329G>A (p.Glu3777Lys) rs565098671 0.00002
NM_001378454.1(ALMS1):c.1139T>C (p.Ile380Thr) rs199872225 0.00002
NM_001378454.1(ALMS1):c.1153A>G (p.Ser385Gly) rs761174114 0.00002
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr) rs45630562 0.00002
NM_001378454.1(ALMS1):c.11897A>T (p.Glu3966Val) rs377523400 0.00002
NM_001378454.1(ALMS1):c.12016T>C (p.Cys4006Arg) rs201959964 0.00002
NM_001378454.1(ALMS1):c.12040C>T (p.Arg4014Trp) rs543346172 0.00002
NM_001378454.1(ALMS1):c.12136C>T (p.Pro4046Ser) rs371269253 0.00002
NM_001378454.1(ALMS1):c.12137C>A (p.Pro4046His) rs751862434 0.00002
NM_001378454.1(ALMS1):c.12227G>A (p.Arg4076Gln) rs200814417 0.00002
NM_001378454.1(ALMS1):c.12274C>T (p.Arg4092Cys) rs774888526 0.00002
NM_001378454.1(ALMS1):c.12376C>T (p.Leu4126Phe) rs746923966 0.00002
NM_001378454.1(ALMS1):c.1238-20A>G rs771811655 0.00002
NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter) rs192496253 0.00002
NM_001378454.1(ALMS1):c.12473A>G (p.Asn4158Ser) rs752828644 0.00002
NM_001378454.1(ALMS1):c.1450G>C (p.Gly484Arg) rs1212388844 0.00002
NM_001378454.1(ALMS1):c.1633A>G (p.Thr545Ala) rs201647675 0.00002
NM_001378454.1(ALMS1):c.1634C>T (p.Thr545Ile) rs772068213 0.00002
NM_001378454.1(ALMS1):c.1651A>T (p.Thr551Ser) rs1271418277 0.00002
NM_001378454.1(ALMS1):c.176A>T (p.His59Leu) rs772683919 0.00002
NM_001378454.1(ALMS1):c.1969C>G (p.Gln657Glu) rs1371488235 0.00002
NM_001378454.1(ALMS1):c.2059C>T (p.His687Tyr) rs771266951 0.00002
NM_001378454.1(ALMS1):c.2293T>C (p.Ser765Pro) rs373936479 0.00002
NM_001378454.1(ALMS1):c.2345A>G (p.His782Arg) rs549457439 0.00002
NM_001378454.1(ALMS1):c.2420C>G (p.Pro807Arg) rs372717861 0.00002
NM_001378454.1(ALMS1):c.2686C>G (p.Gln896Glu) rs376834704 0.00002
NM_001378454.1(ALMS1):c.2739G>C (p.Lys913Asn) rs373378385 0.00002
NM_001378454.1(ALMS1):c.2804C>T (p.Ser935Leu) rs1183510271 0.00002
NM_001378454.1(ALMS1):c.3002G>T (p.Gly1001Val) rs773630367 0.00002
NM_001378454.1(ALMS1):c.3038A>G (p.Tyr1013Cys) rs371893544 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.3412A>G (p.Thr1138Ala) rs201884768 0.00002
NM_001378454.1(ALMS1):c.3431A>T (p.Tyr1144Phe) rs749513495 0.00002
NM_001378454.1(ALMS1):c.343C>T (p.His115Tyr) rs759255714 0.00002
NM_001378454.1(ALMS1):c.3493C>T (p.Pro1165Ser) rs767103091 0.00002
NM_001378454.1(ALMS1):c.3545C>T (p.Thr1182Ile) rs778965893 0.00002
NM_001378454.1(ALMS1):c.3604T>C (p.Tyr1202His) rs766931841 0.00002
NM_001378454.1(ALMS1):c.3881G>C (p.Ser1294Thr) rs373835067 0.00002
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala) rs760866713 0.00002
NM_001378454.1(ALMS1):c.460T>A (p.Ser154Thr) rs767106643 0.00002
NM_001378454.1(ALMS1):c.4829T>C (p.Ile1610Thr) rs757356524 0.00002
NM_001378454.1(ALMS1):c.5194A>T (p.Thr1732Ser) rs370735089 0.00002
NM_001378454.1(ALMS1):c.5566C>G (p.His1856Asp) rs777664567 0.00002
NM_001378454.1(ALMS1):c.5694T>A (p.Asn1898Lys) rs1317035563 0.00002
NM_001378454.1(ALMS1):c.5765T>C (p.Val1922Ala) rs761428155 0.00002
NM_001378454.1(ALMS1):c.5860G>A (p.Glu1954Lys) rs1313974028 0.00002
NM_001378454.1(ALMS1):c.5971T>G (p.Ser1991Ala) rs777227174 0.00002
NM_001378454.1(ALMS1):c.679C>T (p.Pro227Ser) rs756201461 0.00002
NM_001378454.1(ALMS1):c.6833A>G (p.Asn2278Ser) rs767464740 0.00002
NM_001378454.1(ALMS1):c.7033C>T (p.Arg2345Trp) rs776611154 0.00002
NM_001378454.1(ALMS1):c.7037G>A (p.Arg2346Lys) rs765006341 0.00002
NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val) rs370830919 0.00002
NM_001378454.1(ALMS1):c.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.7912T>A (p.Ser2638Thr) rs548882067 0.00002
NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu) rs996036496 0.00002
NM_001378454.1(ALMS1):c.8134A>G (p.Thr2712Ala) rs765519997 0.00002
NM_001378454.1(ALMS1):c.8410C>T (p.Arg2804Cys) rs746432199 0.00002
NM_001378454.1(ALMS1):c.8462A>G (p.His2821Arg) rs1259827695 0.00002
NM_001378454.1(ALMS1):c.8626C>A (p.Leu2876Ile) rs1447116062 0.00002
NM_001378454.1(ALMS1):c.8684G>A (p.Arg2895His) rs755542969 0.00002
NM_001378454.1(ALMS1):c.8720C>G (p.Ser2907Cys) rs747291259 0.00002
NM_001378454.1(ALMS1):c.872G>C (p.Ser291Thr) rs568470985 0.00002
NM_001378454.1(ALMS1):c.874C>T (p.Arg292Cys) rs757657988 0.00002
NM_001378454.1(ALMS1):c.8861A>G (p.Asp2954Gly) rs751940353 0.00002
NM_001378454.1(ALMS1):c.8882C>T (p.Pro2961Leu) rs781477502 0.00002
NM_001378454.1(ALMS1):c.8926G>A (p.Val2976Ile) rs1298787753 0.00002
NM_001378454.1(ALMS1):c.9026A>G (p.Asn3009Ser) rs757198941 0.00002
NM_001378454.1(ALMS1):c.902T>C (p.Ile301Thr) rs374259576 0.00002
NM_001378454.1(ALMS1):c.9055G>A (p.Val3019Met) rs773897748 0.00002
NM_001378454.1(ALMS1):c.9178G>T (p.Asp3060Tyr) rs547914710 0.00002
NM_001378454.1(ALMS1):c.9281C>T (p.Ser3094Leu) rs368970124 0.00002
NM_001378454.1(ALMS1):c.9722C>A (p.Pro3241His) rs770579229 0.00002
NM_001378454.1(ALMS1):c.9772G>A (p.Gly3258Ser) rs769100528 0.00002
NM_001378454.1(ALMS1):c.9828G>A (p.Met3276Ile) rs551840069 0.00002
NM_001378454.1(ALMS1):c.9928C>T (p.Pro3310Ser) rs775666186 0.00002
NM_001378454.1(ALMS1):c.9995A>G (p.His3332Arg) rs777406837 0.00002
NM_001378454.1(ALMS1):c.10004G>T (p.Gly3335Val) rs1344858585 0.00001
NM_001378454.1(ALMS1):c.1006T>C (p.Cys336Arg) rs746923506 0.00001
NM_001378454.1(ALMS1):c.10070A>G (p.Glu3357Gly) rs776497929 0.00001
NM_001378454.1(ALMS1):c.10148G>A (p.Ser3383Asn) rs1553416873 0.00001
NM_001378454.1(ALMS1):c.10169C>T (p.Ala3390Val) rs905527689 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.10214A>T (p.Asp3405Val) rs781411724 0.00001
NM_001378454.1(ALMS1):c.10217C>G (p.Ser3406Cys) rs1279080725 0.00001
NM_001378454.1(ALMS1):c.10264G>C (p.Glu3422Gln) rs1003992652 0.00001
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly) rs746702722 0.00001
NM_001378454.1(ALMS1):c.10338G>T (p.Glu3446Asp) rs928444733 0.00001
NM_001378454.1(ALMS1):c.10384+6G>A rs1343830351 0.00001
NM_001378454.1(ALMS1):c.103G>C (p.Ala35Pro) rs955371491 0.00001
NM_001378454.1(ALMS1):c.10420C>T (p.Arg3474Cys) rs759337193 0.00001
NM_001378454.1(ALMS1):c.10433G>A (p.Arg3478Lys) rs893973875 0.00001
NM_001378454.1(ALMS1):c.10476T>G (p.Ser3492Arg) rs1433521854 0.00001
NM_001378454.1(ALMS1):c.10493A>G (p.His3498Arg) rs759463622 0.00001
NM_001378454.1(ALMS1):c.10526A>G (p.His3509Arg) rs1674949532 0.00001
NM_001378454.1(ALMS1):c.10527T>G (p.His3509Gln) rs1332733899 0.00001
NM_001378454.1(ALMS1):c.1052G>A (p.Arg351Gln) rs563989825 0.00001
NM_001378454.1(ALMS1):c.10545T>A (p.Phe3515Leu) rs750147146 0.00001
NM_001378454.1(ALMS1):c.10573C>T (p.His3525Tyr) rs778304579 0.00001
NM_001378454.1(ALMS1):c.10625A>G (p.Tyr3542Cys) rs761771973 0.00001
NM_001378454.1(ALMS1):c.10635A>G (p.Ile3545Met) rs760321819 0.00001
NM_001378454.1(ALMS1):c.10723G>A (p.Gly3575Arg) rs752099349 0.00001
NM_001378454.1(ALMS1):c.10738C>G (p.Pro3580Ala) rs746126446 0.00001
NM_001378454.1(ALMS1):c.10772C>A (p.Thr3591Lys) rs773091397 0.00001
NM_001378454.1(ALMS1):c.10856A>G (p.Asp3619Gly) rs779029779 0.00001
NM_001378454.1(ALMS1):c.10862A>G (p.Lys3621Arg) rs1288339942 0.00001
NM_001378454.1(ALMS1):c.10883G>A (p.Arg3628Gln) rs763549947 0.00001
NM_001378454.1(ALMS1):c.1096C>G (p.Gln366Glu) rs887270267 0.00001
NM_001378454.1(ALMS1):c.10973G>A (p.Arg3658Gln) rs781344338 0.00001
NM_001378454.1(ALMS1):c.11071G>A (p.Glu3691Lys) rs750422041 0.00001
NM_001378454.1(ALMS1):c.11105G>A (p.Arg3702Gln) rs188864796 0.00001
NM_001378454.1(ALMS1):c.11116T>A (p.Ser3706Thr) rs749624694 0.00001
NM_001378454.1(ALMS1):c.11143A>G (p.Lys3715Glu) rs765505349 0.00001
NM_001378454.1(ALMS1):c.11192G>A (p.Ser3731Asn) rs756136080 0.00001
NM_001378454.1(ALMS1):c.11204C>T (p.Ser3735Leu) rs367877017 0.00001
NM_001378454.1(ALMS1):c.11219C>T (p.Ser3740Leu) rs948097402 0.00001
NM_001378454.1(ALMS1):c.1126A>T (p.Thr376Ser) rs376750978 0.00001
NM_001378454.1(ALMS1):c.1127C>G (p.Thr376Ser) rs762682178 0.00001
NM_001378454.1(ALMS1):c.11284G>A (p.Glu3762Lys) rs1243181452 0.00001
NM_001378454.1(ALMS1):c.11332A>G (p.Arg3778Gly) rs773130069 0.00001
NM_001378454.1(ALMS1):c.11393G>A (p.Arg3798Lys) rs1006564458 0.00001
NM_001378454.1(ALMS1):c.11401T>A (p.Leu3801Met) rs780494417 0.00001
NM_001378454.1(ALMS1):c.11467C>T (p.Arg3823Trp) rs17848868 0.00001
NM_001378454.1(ALMS1):c.11468G>A (p.Arg3823Gln) rs377572047 0.00001
NM_001378454.1(ALMS1):c.11477A>G (p.His3826Arg) rs371105298 0.00001
NM_001378454.1(ALMS1):c.11492T>G (p.Leu3831Arg) rs777912782 0.00001
NM_001378454.1(ALMS1):c.11516C>T (p.Thr3839Ile) rs376255515 0.00001
NM_001378454.1(ALMS1):c.11547+4C>T rs753353269 0.00001
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn) rs767078704 0.00001
NM_001378454.1(ALMS1):c.11554A>T (p.Asn3852Tyr) rs753182165 0.00001
NM_001378454.1(ALMS1):c.11663A>G (p.Gln3888Arg) rs1675626491 0.00001
NM_001378454.1(ALMS1):c.11705C>G (p.Thr3902Ser) rs369008610 0.00001
NM_001378454.1(ALMS1):c.11728C>G (p.Pro3910Ala) rs761099182 0.00001
NM_001378454.1(ALMS1):c.11737A>C (p.Ser3913Arg) rs776963509 0.00001
NM_001378454.1(ALMS1):c.11764A>G (p.Asn3922Asp) rs45486496 0.00001
NM_001378454.1(ALMS1):c.11797C>T (p.Arg3933Cys) rs1356118595 0.00001
NM_001378454.1(ALMS1):c.11867A>T (p.His3956Leu) rs553786370 0.00001
NM_001378454.1(ALMS1):c.11871A>C (p.Glu3957Asp) rs1205653574 0.00001
NM_001378454.1(ALMS1):c.11929G>A (p.Val3977Met) rs185423930 0.00001
NM_001378454.1(ALMS1):c.12074G>A (p.Gly4025Asp) rs199989044 0.00001
NM_001378454.1(ALMS1):c.12076A>G (p.Arg4026Gly) rs754439156 0.00001
NM_001378454.1(ALMS1):c.12117A>C (p.Glu4039Asp) rs1016477755 0.00001
NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln) rs752714698 0.00001
NM_001378454.1(ALMS1):c.12208A>C (p.Ser4070Arg) rs1306398275 0.00001
NM_001378454.1(ALMS1):c.12217C>A (p.Gln4073Lys) rs774835325 0.00001
NM_001378454.1(ALMS1):c.12221C>G (p.Thr4074Ser) rs762223937 0.00001
NM_001378454.1(ALMS1):c.12256C>T (p.Arg4086Trp) rs779618627 0.00001
NM_001378454.1(ALMS1):c.12280T>C (p.Cys4094Arg) rs1280037324 0.00001
NM_001378454.1(ALMS1):c.12295A>G (p.Arg4099Gly) rs1057524885 0.00001
NM_001378454.1(ALMS1):c.122T>C (p.Val41Ala) rs1558624684 0.00001
NM_001378454.1(ALMS1):c.12312C>G (p.Ile4104Met) rs761844893 0.00001
NM_001378454.1(ALMS1):c.12355T>G (p.Ser4119Ala) rs372734481 0.00001
NM_001378454.1(ALMS1):c.1235C>T (p.Thr412Ile) rs369637082 0.00001
NM_001378454.1(ALMS1):c.12362+5G>C rs771226996 0.00001
NM_001378454.1(ALMS1):c.12367T>G (p.Tyr4123Asp) rs963466695 0.00001
NM_001378454.1(ALMS1):c.12425A>G (p.Tyr4142Cys) rs775032572 0.00001
NM_001378454.1(ALMS1):c.12436C>T (p.Arg4146Trp) rs763519566 0.00001
NM_001378454.1(ALMS1):c.12466G>T (p.Val4156Leu) rs779259646 0.00001
NM_001378454.1(ALMS1):c.12473A>T (p.Asn4158Ile) rs752828644 0.00001
NM_001378454.1(ALMS1):c.1270A>G (p.Ile424Val) rs775981299 0.00001
NM_001378454.1(ALMS1):c.12G>C (p.Glu4Asp) rs1260367236 0.00001
NM_001378454.1(ALMS1):c.1345A>G (p.Arg449Gly) rs777458464 0.00001
NM_001378454.1(ALMS1):c.1354G>A (p.Glu452Lys) rs1232628050 0.00001
NM_001378454.1(ALMS1):c.1402G>C (p.Val468Leu) rs1409680993 0.00001
NM_001378454.1(ALMS1):c.142G>A (p.Glu48Lys) rs751415466 0.00001
NM_001378454.1(ALMS1):c.1432+5G>A rs755613962 0.00001
NM_001378454.1(ALMS1):c.145G>A (p.Glu49Lys) rs1476182899 0.00001
NM_001378454.1(ALMS1):c.1508A>G (p.Asp503Gly) rs771835386 0.00001
NM_001378454.1(ALMS1):c.1517T>C (p.Ile506Thr) rs976096963 0.00001
NM_001378454.1(ALMS1):c.1588A>G (p.Thr530Ala) rs778268073 0.00001
NM_001378454.1(ALMS1):c.159G>C (p.Glu53Asp) rs1245177160 0.00001
NM_001378454.1(ALMS1):c.1636C>T (p.His546Tyr) rs1671845179 0.00001
NM_001378454.1(ALMS1):c.1639C>G (p.Leu547Val) rs1451493287 0.00001
NM_001378454.1(ALMS1):c.1645G>C (p.Glu549Gln) rs1203221115 0.00001
NM_001378454.1(ALMS1):c.1717A>G (p.Ser573Gly) rs143478466 0.00001
NM_001378454.1(ALMS1):c.173C>G (p.Ser58Cys) rs748571359 0.00001
NM_001378454.1(ALMS1):c.1855T>C (p.Ser619Pro) rs921968387 0.00001
NM_001378454.1(ALMS1):c.1859C>A (p.Thr620Asn) rs1447523847 0.00001
NM_001378454.1(ALMS1):c.1927G>A (p.Glu643Lys) rs769734500 0.00001
NM_001378454.1(ALMS1):c.200G>A (p.Ser67Asn) rs776932244 0.00001
NM_001378454.1(ALMS1):c.211G>A (p.Glu71Lys) rs757131983 0.00001
NM_001378454.1(ALMS1):c.2138C>G (p.Ser713Cys) rs771496254 0.00001
NM_001378454.1(ALMS1):c.2156G>A (p.Arg719Lys) rs923816827 0.00001
NM_001378454.1(ALMS1):c.2191G>A (p.Ala731Thr) rs1337404560 0.00001
NM_001378454.1(ALMS1):c.219C>G (p.Asp73Glu) rs905373886 0.00001
NM_001378454.1(ALMS1):c.2236A>G (p.Thr746Ala) rs1339477380 0.00001
NM_001378454.1(ALMS1):c.2296C>A (p.Gln766Lys) rs377000488 0.00001
NM_001378454.1(ALMS1):c.2348T>C (p.Leu783Pro) rs1671866214 0.00001
NM_001378454.1(ALMS1):c.2396A>G (p.Gln799Arg) rs530083993 0.00001
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala) rs772260271 0.00001
NM_001378454.1(ALMS1):c.244G>C (p.Ala82Pro) rs1453391868 0.00001
NM_001378454.1(ALMS1):c.2477T>G (p.Leu826Arg) rs1343407616 0.00001
NM_001378454.1(ALMS1):c.2494G>A (p.Glu832Lys) rs373979607 0.00001
NM_001378454.1(ALMS1):c.2521T>C (p.Ser841Pro) rs949198387 0.00001
NM_001378454.1(ALMS1):c.2540A>G (p.Lys847Arg) rs374788400 0.00001
NM_001378454.1(ALMS1):c.2542A>G (p.Thr848Ala) rs777811953 0.00001
NM_001378454.1(ALMS1):c.2576C>T (p.Ala859Val) rs749219852 0.00001
NM_001378454.1(ALMS1):c.25C>T (p.Pro9Ser) rs769538172 0.00001
NM_001378454.1(ALMS1):c.2636A>G (p.His879Arg) rs1671873298 0.00001
NM_001378454.1(ALMS1):c.266C>T (p.Pro89Leu) rs989191437 0.00001
NM_001378454.1(ALMS1):c.2683G>A (p.Asp895Asn) rs756206965 0.00001
NM_001378454.1(ALMS1):c.2713T>A (p.Ser905Thr) rs1473358206 0.00001
NM_001378454.1(ALMS1):c.2743A>G (p.Ile915Val) rs200704524 0.00001
NM_001378454.1(ALMS1):c.2756A>C (p.Gln919Pro) rs751883638 0.00001
NM_001378454.1(ALMS1):c.2840C>T (p.Thr947Ile) rs576877900 0.00001
NM_001378454.1(ALMS1):c.28G>A (p.Gly10Ser) rs1045405319 0.00001
NM_001378454.1(ALMS1):c.2990C>T (p.Thr997Ile) rs1240072348 0.00001
NM_001378454.1(ALMS1):c.2992G>A (p.Val998Ile) rs374849950 0.00001
NM_001378454.1(ALMS1):c.3029G>A (p.Ser1010Asn) rs1448665150 0.00001
NM_001378454.1(ALMS1):c.3062A>T (p.Tyr1021Phe) rs574757598 0.00001
NM_001378454.1(ALMS1):c.3064G>T (p.Ala1022Ser) rs1267229357 0.00001
NM_001378454.1(ALMS1):c.308G>T (p.Arg103Leu) rs1574424130 0.00001
NM_001378454.1(ALMS1):c.323A>G (p.Lys108Arg) rs1046964700 0.00001
NM_001378454.1(ALMS1):c.3268C>G (p.Pro1090Ala) rs376232524 0.00001
NM_001378454.1(ALMS1):c.3272C>T (p.Ala1091Val) rs1402063104 0.00001
NM_001378454.1(ALMS1):c.3310G>A (p.Gly1104Ser) rs868703237 0.00001
NM_001378454.1(ALMS1):c.3352A>G (p.Lys1118Glu) rs770713526 0.00001
NM_001378454.1(ALMS1):c.3373G>T (p.Val1125Leu) rs1180431442 0.00001
NM_001378454.1(ALMS1):c.341G>T (p.Cys114Phe) rs1052797474 0.00001
NM_001378454.1(ALMS1):c.3472G>A (p.Ala1158Thr) rs376302473 0.00001
NM_001378454.1(ALMS1):c.3514T>A (p.Ser1172Thr) rs756748918 0.00001
NM_001378454.1(ALMS1):c.3563T>C (p.Leu1188Pro) rs745802005 0.00001
NM_001378454.1(ALMS1):c.3605A>G (p.Tyr1202Cys) rs772706904 0.00001
NM_001378454.1(ALMS1):c.3623G>A (p.Gly1208Asp) rs765685207 0.00001
NM_001378454.1(ALMS1):c.365A>G (p.Tyr122Cys) rs757838184 0.00001
NM_001378454.1(ALMS1):c.3700C>T (p.Pro1234Ser) rs777259139 0.00001
NM_001378454.1(ALMS1):c.3749A>G (p.Gln1250Arg) rs1332453858 0.00001
NM_001378454.1(ALMS1):c.3764A>G (p.Asp1255Gly) rs773586990 0.00001
NM_001378454.1(ALMS1):c.3770A>G (p.His1257Arg) rs770555189 0.00001
NM_001378454.1(ALMS1):c.3914A>G (p.His1305Arg) rs1394932968 0.00001
NM_001378454.1(ALMS1):c.392C>A (p.Ser131Tyr) rs756453260 0.00001
NM_001378454.1(ALMS1):c.3982A>G (p.Ile1328Val) rs1045211044 0.00001
NM_001378454.1(ALMS1):c.400A>G (p.Asn134Asp) rs780314593 0.00001
NM_001378454.1(ALMS1):c.4057C>A (p.Pro1353Thr) rs1005994594 0.00001
NM_001378454.1(ALMS1):c.4115G>A (p.Gly1372Asp) rs1439442789 0.00001
NM_001378454.1(ALMS1):c.4163C>T (p.Pro1388Leu) rs377354387 0.00001
NM_001378454.1(ALMS1):c.4181A>G (p.Gln1394Arg) rs368955191 0.00001
NM_001378454.1(ALMS1):c.430C>T (p.Arg144Trp) rs748293128 0.00001
NM_001378454.1(ALMS1):c.4360G>C (p.Glu1454Gln) rs768816557 0.00001
NM_001378454.1(ALMS1):c.4370T>C (p.Val1457Ala) rs1671922685 0.00001
NM_001378454.1(ALMS1):c.4379G>T (p.Gly1460Val) rs776345925 0.00001
NM_001378454.1(ALMS1):c.442G>A (p.Asp148Asn) rs757606922 0.00001
NM_001378454.1(ALMS1):c.4430C>T (p.Ser1477Leu) rs794727926 0.00001
NM_001378454.1(ALMS1):c.4450G>A (p.Val1484Ile) rs779113815 0.00001
NM_001378454.1(ALMS1):c.450+3A>G rs1371008925 0.00001
NM_001378454.1(ALMS1):c.4516C>T (p.Pro1506Ser) rs1233912426 0.00001
NM_001378454.1(ALMS1):c.4610C>A (p.Ala1537Glu) rs766908325 0.00001
NM_001378454.1(ALMS1):c.4616T>C (p.Leu1539Pro) rs368273962 0.00001
NM_001378454.1(ALMS1):c.465G>C (p.Trp155Cys) rs1414087888 0.00001
NM_001378454.1(ALMS1):c.466C>T (p.His156Tyr) rs750004908 0.00001
NM_001378454.1(ALMS1):c.4691C>A (p.Pro1564Gln) rs773841585 0.00001
NM_001378454.1(ALMS1):c.4691C>G (p.Pro1564Arg) rs773841585 0.00001
NM_001378454.1(ALMS1):c.4709C>T (p.Ser1570Phe) rs765461259 0.00001
NM_001378454.1(ALMS1):c.4765C>A (p.His1589Asn) rs771703863 0.00001
NM_001378454.1(ALMS1):c.4788A>C (p.Lys1596Asn) rs925686650 0.00001
NM_001378454.1(ALMS1):c.4789G>A (p.Val1597Ile) rs759914299 0.00001
NM_001378454.1(ALMS1):c.4924G>A (p.Val1642Met) rs763324131 0.00001
NM_001378454.1(ALMS1):c.4942C>A (p.Pro1648Thr) rs754804407 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.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.5084C>T (p.Pro1695Leu) rs756796770 0.00001
NM_001378454.1(ALMS1):c.5147A>G (p.Glu1716Gly) rs760638961 0.00001
NM_001378454.1(ALMS1):c.5155A>G (p.Ile1719Val) rs1438158545 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.5174C>A (p.Ala1725Asp) rs764135516 0.00001
NM_001378454.1(ALMS1):c.5179C>G (p.Pro1727Ala) rs935844541 0.00001
NM_001378454.1(ALMS1):c.518C>T (p.Thr173Ile) rs1163075641 0.00001
NM_001378454.1(ALMS1):c.5258C>T (p.Thr1753Ile) rs954287768 0.00001
NM_001378454.1(ALMS1):c.5272T>G (p.Phe1758Val) rs1179437667 0.00001
NM_001378454.1(ALMS1):c.5282A>T (p.His1761Leu) rs760251120 0.00001
NM_001378454.1(ALMS1):c.5323G>C (p.Asp1775His) rs747341054 0.00001
NM_001378454.1(ALMS1):c.5343G>C (p.Glu1781Asp) rs1671948778 0.00001
NM_001378454.1(ALMS1):c.5348T>C (p.Leu1783Pro) rs1188079304 0.00001
NM_001378454.1(ALMS1):c.5360A>T (p.Asn1787Ile) rs1671949458 0.00001
NM_001378454.1(ALMS1):c.5425A>G (p.Arg1809Gly) rs1257660889 0.00001
NM_001378454.1(ALMS1):c.543T>A (p.Asp181Glu) rs1029393339 0.00001
NM_001378454.1(ALMS1):c.5558A>G (p.Gln1853Arg) rs574696548 0.00001
NM_001378454.1(ALMS1):c.556G>C (p.Asp186His) rs1044951470 0.00001
NM_001378454.1(ALMS1):c.557A>C (p.Asp186Ala) rs375830111 0.00001
NM_001378454.1(ALMS1):c.5608G>A (p.Glu1870Lys) rs372714431 0.00001
NM_001378454.1(ALMS1):c.5615C>T (p.Thr1872Ile) rs762339692 0.00001
NM_001378454.1(ALMS1):c.565T>C (p.Ser189Pro) rs760035952 0.00001
NM_001378454.1(ALMS1):c.5683T>A (p.Ser1895Thr) rs1288519568 0.00001
NM_001378454.1(ALMS1):c.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.5905C>G (p.Pro1969Ala) rs552496175 0.00001
NM_001378454.1(ALMS1):c.5921C>G (p.Ala1974Gly) rs563067980 0.00001
NM_001378454.1(ALMS1):c.5956A>G (p.Ser1986Gly) rs778684767 0.00001
NM_001378454.1(ALMS1):c.6017A>G (p.Asp2006Gly) rs1209226433 0.00001
NM_001378454.1(ALMS1):c.6020A>G (p.Gln2007Arg) rs1047348249 0.00001
NM_001378454.1(ALMS1):c.6033T>G (p.Phe2011Leu) rs1671969545 0.00001
NM_001378454.1(ALMS1):c.6049A>G (p.Ser2017Gly) rs1021572525 0.00001
NM_001378454.1(ALMS1):c.6071A>G (p.Lys2024Arg) rs369339997 0.00001
NM_001378454.1(ALMS1):c.6077A>G (p.Lys2026Arg) rs367904732 0.00001
NM_001378454.1(ALMS1):c.6092T>C (p.Ile2031Thr) rs374673974 0.00001
NM_001378454.1(ALMS1):c.6121C>G (p.Gln2041Glu) rs780824087 0.00001
NM_001378454.1(ALMS1):c.6138T>G (p.Ser2046Arg) rs780566681 0.00001
NM_001378454.1(ALMS1):c.6166A>G (p.Ile2056Val) rs747108462 0.00001
NM_001378454.1(ALMS1):c.6190G>A (p.Asp2064Asn) rs183773481 0.00001
NM_001378454.1(ALMS1):c.6199C>G (p.Gln2067Glu) rs886042711 0.00001
NM_001378454.1(ALMS1):c.6203G>C (p.Ser2068Thr) rs749979595 0.00001
NM_001378454.1(ALMS1):c.6218A>G (p.Lys2073Arg) rs1381524403 0.00001
NM_001378454.1(ALMS1):c.6229G>A (p.Val2077Ile) rs779402813 0.00001
NM_001378454.1(ALMS1):c.6251A>G (p.Asn2084Ser) rs771084714 0.00001
NM_001378454.1(ALMS1):c.6350A>G (p.Asp2117Gly) rs1671977745 0.00001
NM_001378454.1(ALMS1):c.6359A>G (p.Lys2120Arg) rs745919138 0.00001
NM_001378454.1(ALMS1):c.6415C>T (p.Pro2139Ser) rs772858451 0.00001
NM_001378454.1(ALMS1):c.6477A>T (p.Arg2159Ser) rs772943318 0.00001
NM_001378454.1(ALMS1):c.6478C>T (p.His2160Tyr) rs1479606549 0.00001
NM_001378454.1(ALMS1):c.6496C>G (p.Leu2166Val) rs1200119538 0.00001
NM_001378454.1(ALMS1):c.6506C>T (p.Ser2169Leu) rs368833782 0.00001
NM_001378454.1(ALMS1):c.6529C>G (p.Gln2177Glu) rs776108315 0.00001
NM_001378454.1(ALMS1):c.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.6639C>G (p.Asp2213Glu) rs769322538 0.00001
NM_001378454.1(ALMS1):c.6776T>C (p.Leu2259Pro) rs768229118 0.00001
NM_001378454.1(ALMS1):c.6790A>G (p.Thr2264Ala) rs772620985 0.00001
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln) rs200979896 0.00001
NM_001378454.1(ALMS1):c.6838C>T (p.Pro2280Ser) rs1273490920 0.00001
NM_001378454.1(ALMS1):c.6889T>A (p.Ser2297Thr) rs771228376 0.00001
NM_001378454.1(ALMS1):c.6902T>C (p.Val2301Ala) rs759819986 0.00001
NM_001378454.1(ALMS1):c.6991T>C (p.Cys2331Arg) rs1060500038 0.00001
NM_001378454.1(ALMS1):c.7079G>C (p.Arg2360Thr) rs1402057300 0.00001
NM_001378454.1(ALMS1):c.7217C>T (p.Pro2406Leu) rs1481573722 0.00001
NM_001378454.1(ALMS1):c.7226C>G (p.Thr2409Ser) rs866357733 0.00001
NM_001378454.1(ALMS1):c.7376G>C (p.Ser2459Thr) rs778055498 0.00001
NM_001378454.1(ALMS1):c.739A>G (p.Ser247Gly) rs1055600080 0.00001
NM_001378454.1(ALMS1):c.7404T>A (p.Ser2468Arg) rs749127545 0.00001
NM_001378454.1(ALMS1):c.7411G>A (p.Gly2471Ser) rs1019293474 0.00001
NM_001378454.1(ALMS1):c.7426G>A (p.Val2476Ile) rs772752104 0.00001
NM_001378454.1(ALMS1):c.7447G>A (p.Val2483Met) rs754242152 0.00001
NM_001378454.1(ALMS1):c.7526G>A (p.Arg2509Gln) rs551433143 0.00001
NM_001378454.1(ALMS1):c.7559A>G (p.Asn2520Ser) rs377085127 0.00001
NM_001378454.1(ALMS1):c.7568A>G (p.His2523Arg) rs763422515 0.00001
NM_001378454.1(ALMS1):c.764+4G>A rs1167438151 0.00001
NM_001378454.1(ALMS1):c.7697T>C (p.Met2566Thr) rs373385088 0.00001
NM_001378454.1(ALMS1):c.7700G>T (p.Gly2567Val) rs199831059 0.00001
NM_001378454.1(ALMS1):c.7714G>A (p.Ala2572Thr) rs1171656515 0.00001
NM_001378454.1(ALMS1):c.776A>G (p.Asp259Gly) rs369122370 0.00001
NM_001378454.1(ALMS1):c.7780C>T (p.His2594Tyr) rs754585700 0.00001
NM_001378454.1(ALMS1):c.7788A>C (p.Gln2596His) rs752127434 0.00001
NM_001378454.1(ALMS1):c.7850A>G (p.Gln2617Arg) rs749293224 0.00001
NM_001378454.1(ALMS1):c.7883A>G (p.Asn2628Ser) rs776280658 0.00001
NM_001378454.1(ALMS1):c.8031C>A (p.Asp2677Glu) rs754078506 0.00001
NM_001378454.1(ALMS1):c.8096C>T (p.Ser2699Leu) rs769405720 0.00001
NM_001378454.1(ALMS1):c.8111C>T (p.Ser2704Phe) rs761272792 0.00001
NM_001378454.1(ALMS1):c.8117A>G (p.Glu2706Gly) rs768090632 0.00001
NM_001378454.1(ALMS1):c.8138C>T (p.Thr2713Ile) rs1672944551 0.00001
NM_001378454.1(ALMS1):c.8140T>C (p.Ser2714Pro) rs1245467740 0.00001
NM_001378454.1(ALMS1):c.8162G>A (p.Arg2721Gln) rs745857579 0.00001
NM_001378454.1(ALMS1):c.8195T>C (p.Val2732Ala) rs200859630 0.00001
NM_001378454.1(ALMS1):c.8239G>T (p.Val2747Leu) rs878855002 0.00001
NM_001378454.1(ALMS1):c.8420A>C (p.Gln2807Pro) rs768782274 0.00001
NM_001378454.1(ALMS1):c.8423A>G (p.Glu2808Gly) rs1255060538 0.00001
NM_001378454.1(ALMS1):c.847G>C (p.Glu283Gln) rs780066739 0.00001
NM_001378454.1(ALMS1):c.8483C>A (p.Ala2828Glu) rs751296181 0.00001
NM_001378454.1(ALMS1):c.8488T>A (p.Cys2830Ser) rs993209212 0.00001
NM_001378454.1(ALMS1):c.8541G>T (p.Met2847Ile) rs1183007080 0.00001
NM_001378454.1(ALMS1):c.8560C>G (p.Leu2854Val) rs765176591 0.00001
NM_001378454.1(ALMS1):c.8638A>G (p.Ile2880Val) rs767384464 0.00001
NM_001378454.1(ALMS1):c.8654G>A (p.Arg2885Gln) rs185447739 0.00001
NM_001378454.1(ALMS1):c.8686G>A (p.Ala2896Thr) rs779240181 0.00001
NM_001378454.1(ALMS1):c.8723C>T (p.Pro2908Leu) rs537639125 0.00001
NM_001378454.1(ALMS1):c.873T>G (p.Ser291Arg) rs747529881 0.00001
NM_001378454.1(ALMS1):c.8758T>C (p.Ser2920Pro) rs1398652795 0.00001
NM_001378454.1(ALMS1):c.8794C>G (p.Gln2932Glu) rs757528252 0.00001
NM_001378454.1(ALMS1):c.8842C>T (p.Pro2948Ser) rs1171275378 0.00001
NM_001378454.1(ALMS1):c.8849C>A (p.Pro2950His) rs777913623 0.00001
NM_001378454.1(ALMS1):c.8875G>C (p.Asp2959His) rs375254366 0.00001
NM_001378454.1(ALMS1):c.8960T>C (p.Leu2987Pro) rs1465260699 0.00001
NM_001378454.1(ALMS1):c.8974G>T (p.Asp2992Tyr) rs937731506 0.00001
NM_001378454.1(ALMS1):c.901A>C (p.Ile301Leu) rs534913971 0.00001
NM_001378454.1(ALMS1):c.9073C>A (p.Pro3025Thr) rs773480197 0.00001
NM_001378454.1(ALMS1):c.9088T>G (p.Leu3030Val) rs754181473 0.00001
NM_001378454.1(ALMS1):c.9109C>T (p.Pro3037Ser) rs752792682 0.00001
NM_001378454.1(ALMS1):c.9143A>C (p.His3048Pro) rs866416012 0.00001
NM_001378454.1(ALMS1):c.9161A>G (p.Lys3054Arg) rs778324244 0.00001
NM_001378454.1(ALMS1):c.9191T>C (p.Leu3064Ser) rs1434010689 0.00001
NM_001378454.1(ALMS1):c.9214G>C (p.Asp3072His) rs1022898016 0.00001
NM_001378454.1(ALMS1):c.9275C>T (p.Ser3092Leu) rs1394971174 0.00001
NM_001378454.1(ALMS1):c.9292A>T (p.Thr3098Ser) rs1280854716 0.00001
NM_001378454.1(ALMS1):c.9382G>A (p.Val3128Ile) rs764937531 0.00001
NM_001378454.1(ALMS1):c.9392C>T (p.Ser3131Phe) rs144588413 0.00001
NM_001378454.1(ALMS1):c.9397C>G (p.Pro3133Ala) rs45493191 0.00001
NM_001378454.1(ALMS1):c.9442C>A (p.Gln3148Lys) rs917667192 0.00001
NM_001378454.1(ALMS1):c.9454A>G (p.Ile3152Val) rs761831256 0.00001
NM_001378454.1(ALMS1):c.9509A>G (p.Asn3170Ser) rs1396386580 0.00001
NM_001378454.1(ALMS1):c.951A>C (p.Gln317His) rs1233763940 0.00001
NM_001378454.1(ALMS1):c.953G>A (p.Gly318Glu) rs372886271 0.00001
NM_001378454.1(ALMS1):c.9545C>T (p.Pro3182Leu) rs1475730829 0.00001
NM_001378454.1(ALMS1):c.9579T>A (p.Ser3193=) rs769786449 0.00001
NM_001378454.1(ALMS1):c.9581A>G (p.Glu3194Gly) rs1673634547 0.00001
NM_001378454.1(ALMS1):c.9610A>G (p.Ile3204Val) rs377600448 0.00001
NM_001378454.1(ALMS1):c.961G>A (p.Glu321Lys) rs763730338 0.00001
NM_001378454.1(ALMS1):c.9628G>A (p.Glu3210Lys) rs961373884 0.00001
NM_001378454.1(ALMS1):c.9631A>G (p.Lys3211Glu) rs770987613 0.00001
NM_001378454.1(ALMS1):c.9637C>G (p.Leu3213Val) rs575305602 0.00001
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe) rs771768835 0.00001
NM_001378454.1(ALMS1):c.9669A>C (p.Glu3223Asp) rs376206840 0.00001
NM_001378454.1(ALMS1):c.9674G>A (p.Arg3225His) rs765685958 0.00001
NM_001378454.1(ALMS1):c.9702C>G (p.Asn3234Lys) rs771376818 0.00001
NM_001378454.1(ALMS1):c.9757G>T (p.Val3253Phe) rs751917932 0.00001
NM_001378454.1(ALMS1):c.9808C>T (p.Pro3270Ser) rs1673992958 0.00001
NM_001378454.1(ALMS1):c.9871T>C (p.Ser3291Pro) rs759591871 0.00001
NC_000002.11:g.(?_73114549)_(73836749_?)dup
NC_000002.11:g.(?_73612997)_(73747163_?)dup
NC_000002.11:g.(?_73676196)_(73677479_?)del
NC_000002.11:g.(?_73761931)_(73762096_?)del
NC_000002.11:g.(?_73777374)_(73777584_?)del
NC_000002.11:g.(?_73784327)_(73786289_?)del
NC_000002.11:g.(?_73799369)_(73836739_?)dup
NC_000002.11:g.(?_73830348)_(73836739_?)del
NC_000002.11:g.(?_73835582)_(73836739_?)del
NC_000002.11:g.(?_73835582)_(73836739_?)dup
NC_000002.12:g.(?_73603231)_(73609622_?)del
NM_001378454.1(ALMS1):c.10004G>A (p.Gly3335Glu)
NM_001378454.1(ALMS1):c.10010A>G (p.Tyr3337Cys) rs1674404167
NM_001378454.1(ALMS1):c.10012A>C (p.Ser3338Arg)
NM_001378454.1(ALMS1):c.10016A>G (p.Lys3339Arg)
NM_001378454.1(ALMS1):c.10017G>A (p.Lys3339=)
NM_001378454.1(ALMS1):c.10030A>G (p.Lys3344Glu) rs1674404816
NM_001378454.1(ALMS1):c.1003G>A (p.Asp335Asn)
NM_001378454.1(ALMS1):c.10042C>T (p.Pro3348Ser)
NM_001378454.1(ALMS1):c.10047G>T (p.Val3349=)
NM_001378454.1(ALMS1):c.10064A>G (p.Gln3355Arg)
NM_001378454.1(ALMS1):c.10064A>T (p.Gln3355Leu)
NM_001378454.1(ALMS1):c.10078+14C>T
NM_001378454.1(ALMS1):c.10079-19A>G rs935864365
NM_001378454.1(ALMS1):c.10082C>A (p.Ala3361Asp) rs1195894910
NM_001378454.1(ALMS1):c.10093G>T (p.Val3365Leu) rs1316719149
NM_001378454.1(ALMS1):c.10103C>G (p.Thr3368Ser) rs1270212178
NM_001378454.1(ALMS1):c.10105G>A (p.Gly3369Arg)
NM_001378454.1(ALMS1):c.10106G>A (p.Gly3369Glu) rs2104057922
NM_001378454.1(ALMS1):c.10115A>C (p.Asn3372Thr)
NM_001378454.1(ALMS1):c.1012C>T (p.Arg338Cys) rs867586310
NM_001378454.1(ALMS1):c.10130A>C (p.Lys3377Thr)
NM_001378454.1(ALMS1):c.1013G>A (p.Arg338His)
NM_001378454.1(ALMS1):c.10140G>C (p.Glu3380Asp) rs1045473444
NM_001378454.1(ALMS1):c.10153_10158dup (p.Ala3386_Val3387insArgAla)
NM_001378454.1(ALMS1):c.10166A>C (p.Glu3389Ala)
NM_001378454.1(ALMS1):c.10177G>T (p.Ala3393Ser) rs145678202
NM_001378454.1(ALMS1):c.10178C>G (p.Ala3393Gly) rs1231100277
NM_001378454.1(ALMS1):c.10187A>G (p.Lys3396Arg)
NM_001378454.1(ALMS1):c.10199A>C (p.Gln3400Pro)
NM_001378454.1(ALMS1):c.10204G>T (p.Asp3402Tyr)
NM_001378454.1(ALMS1):c.10208C>G (p.Thr3403Ser) rs1231406875
NM_001378454.1(ALMS1):c.10210G>T (p.Ala3404Ser)
NM_001378454.1(ALMS1):c.10213G>A (p.Asp3405Asn)
NM_001378454.1(ALMS1):c.10213G>T (p.Asp3405Tyr) rs2104058482
NM_001378454.1(ALMS1):c.10226C>G (p.Ala3409Gly)
NM_001378454.1(ALMS1):c.1022A>G (p.Asp341Gly) rs762728069
NM_001378454.1(ALMS1):c.10234G>T (p.Ala3412Ser) rs1454233838
NM_001378454.1(ALMS1):c.10241A>G (p.His3414Arg) rs1674601435
NM_001378454.1(ALMS1):c.10244C>T (p.Ser3415Leu)
NM_001378454.1(ALMS1):c.10249C>G (p.Gln3417Glu)
NM_001378454.1(ALMS1):c.10252G>A (p.Val3418Ile)
NM_001378454.1(ALMS1):c.10269GAA[1] (p.Lys3424del) rs1184260245
NM_001378454.1(ALMS1):c.10279C>A (p.Pro3427Thr) rs2104063862
NM_001378454.1(ALMS1):c.10284C>G (p.Asp3428Glu) rs2104063874
NM_001378454.1(ALMS1):c.10294A>C (p.Ile3432Leu) rs2104063946
NM_001378454.1(ALMS1):c.10304A>T (p.Lys3435Ile)
NM_001378454.1(ALMS1):c.10308G>A (p.Glu3436=)
NM_001378454.1(ALMS1):c.10313T>C (p.Ile3438Thr) rs1674603162
NM_001378454.1(ALMS1):c.10316A>G (p.His3439Arg) rs139425340
NM_001378454.1(ALMS1):c.10326G>C (p.Lys3442Asn)
NM_001378454.1(ALMS1):c.10330G>A (p.Val3444Ile)
NM_001378454.1(ALMS1):c.10334_10335delinsTA (p.Pro3445Leu)
NM_001378454.1(ALMS1):c.10336G>A (p.Glu3446Lys)
NM_001378454.1(ALMS1):c.10353C>A (p.Asn3451Lys) rs1209953727
NM_001378454.1(ALMS1):c.10358A>G (p.Lys3453Arg)
NM_001378454.1(ALMS1):c.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+2dup rs1255846889
NM_001378454.1(ALMS1):c.10384+4A>G rs2104064401
NM_001378454.1(ALMS1):c.10385-16T>A
NM_001378454.1(ALMS1):c.10412A>C (p.Asn3471Thr) rs2104103500
NM_001378454.1(ALMS1):c.10417A>T (p.Thr3473Ser) rs2104103542
NM_001378454.1(ALMS1):c.10421G>A (p.Arg3474His)
NM_001378454.1(ALMS1):c.10424C>G (p.Ser3475Cys)
NM_001378454.1(ALMS1):c.10443G>C (p.Lys3481Asn)
NM_001378454.1(ALMS1):c.10448A>G (p.Tyr3483Cys) rs2104103714
NM_001378454.1(ALMS1):c.10460C>T (p.Pro3487Leu) rs1674947337
NM_001378454.1(ALMS1):c.10462G>A (p.Val3488Ile)
NM_001378454.1(ALMS1):c.10474A>G (p.Ser3492Gly)
NM_001378454.1(ALMS1):c.10481A>G (p.Gln3494Arg) rs1553418430
NM_001378454.1(ALMS1):c.10483G>A (p.Asp3495Asn) rs533617405
NM_001378454.1(ALMS1):c.10490G>A (p.Cys3497Tyr)
NM_001378454.1(ALMS1):c.10490G>C (p.Cys3497Ser)
NM_001378454.1(ALMS1):c.104_106dup (p.Ala35_Asn36insThr)
NM_001378454.1(ALMS1):c.10510A>G (p.Ser3504Gly) rs45585940
NM_001378454.1(ALMS1):c.10511G>A (p.Ser3504Asn) rs1558699257
NM_001378454.1(ALMS1):c.10519A>G (p.Met3507Val) rs1350031802
NM_001378454.1(ALMS1):c.10537G>T (p.Asp3513Tyr) rs1674949916
NM_001378454.1(ALMS1):c.10558G>C (p.Asp3520His) rs1403094265
NM_001378454.1(ALMS1):c.10562A>G (p.Lys3521Arg)
NM_001378454.1(ALMS1):c.10565A>G (p.His3522Arg)
NM_001378454.1(ALMS1):c.10575C>A (p.His3525Gln) rs1674954136
NM_001378454.1(ALMS1):c.10578G>C (p.Met3526Ile)
NM_001378454.1(ALMS1):c.10588C>G (p.Leu3530Val)
NM_001378454.1(ALMS1):c.10588C>T (p.Leu3530Phe) rs781331448
NM_001378454.1(ALMS1):c.10592C>G (p.Pro3531Arg) rs2104104344
NM_001378454.1(ALMS1):c.10602C>T (p.Asn3534=)
NM_001378454.1(ALMS1):c.10603A>G (p.Met3535Val) rs769907792
NM_001378454.1(ALMS1):c.10607A>G (p.Asp3536Gly)
NM_001378454.1(ALMS1):c.10612A>G (p.Thr3538Ala) rs1225039531
NM_001378454.1(ALMS1):c.10613C>T (p.Thr3538Ile)
NM_001378454.1(ALMS1):c.10616A>C (p.Lys3539Thr) rs1223712611
NM_001378454.1(ALMS1):c.10621G>A (p.Asp3541Asn)
NM_001378454.1(ALMS1):c.10625A>T (p.Tyr3542Phe)
NM_001378454.1(ALMS1):c.1062A>T (p.Thr354=)
NM_001378454.1(ALMS1):c.10641C>G (p.Ser3547Arg) rs893243465
NM_001378454.1(ALMS1):c.10643T>A (p.Leu3548His) rs1674958037
NM_001378454.1(ALMS1):c.1064A>G (p.Gln355Arg)
NM_001378454.1(ALMS1):c.10652A>G (p.Asn3551Ser) rs868744829
NM_001378454.1(ALMS1):c.10668C>G (p.Asn3556Lys)
NM_001378454.1(ALMS1):c.10679T>C (p.Met3560Thr) rs752203028
NM_001378454.1(ALMS1):c.10679T>G (p.Met3560Arg) rs752203028
NM_001378454.1(ALMS1):c.10685C>G (p.Thr3562Ser) rs1674959661
NM_001378454.1(ALMS1):c.10693A>T (p.Ser3565Cys)
NM_001378454.1(ALMS1):c.1069C>A (p.Pro357Thr) rs2103715581
NM_001378454.1(ALMS1):c.10703G>C (p.Arg3568Thr)
NM_001378454.1(ALMS1):c.10709A>G (p.Tyr3570Cys) rs2104104820
NM_001378454.1(ALMS1):c.10721A>G (p.Asn3574Ser)
NM_001378454.1(ALMS1):c.10733G>A (p.Ser3578Asn)
NM_001378454.1(ALMS1):c.10736A>G (p.Asp3579Gly)
NM_001378454.1(ALMS1):c.10750C>G (p.Gln3584Glu)
NM_001378454.1(ALMS1):c.10753_10755del (p.Lys3585del)
NM_001378454.1(ALMS1):c.10759A>G (p.Thr3587Ala)
NM_001378454.1(ALMS1):c.10768C>G (p.Gln3590Glu) rs1674961683
NM_001378454.1(ALMS1):c.10771A>G (p.Thr3591Ala)
NM_001378454.1(ALMS1):c.10772C>T (p.Thr3591Ile) rs773091397
NM_001378454.1(ALMS1):c.10778A>G (p.Gln3593Arg)
NM_001378454.1(ALMS1):c.10792T>G (p.Leu3598Val)
NM_001378454.1(ALMS1):c.10808A>G (p.Asn3603Ser)
NM_001378454.1(ALMS1):c.10819G>A (p.Glu3607Lys)
NM_001378454.1(ALMS1):c.10822C>G (p.Arg3608Gly)
NM_001378454.1(ALMS1):c.10827G>C (p.Gln3609His) rs2104105279
NM_001378454.1(ALMS1):c.10842G>T (p.Gln3614His)
NM_001378454.1(ALMS1):c.10853G>A (p.Gly3618Asp)
NM_001378454.1(ALMS1):c.10868T>C (p.Leu3623Pro)
NM_001378454.1(ALMS1):c.10873T>A (p.Leu3625Met)
NM_001378454.1(ALMS1):c.10885C>T (p.Leu3629Phe)
NM_001378454.1(ALMS1):c.10886T>C (p.Leu3629Pro)
NM_001378454.1(ALMS1):c.10903A>G (p.Ile3635Val) rs1674966271
NM_001378454.1(ALMS1):c.10906C>A (p.Leu3636Ile) rs1573030520
NM_001378454.1(ALMS1):c.10907T>C (p.Leu3636Pro) rs2104105685
NM_001378454.1(ALMS1):c.10909C>G (p.Gln3637Glu) rs754108525
NM_001378454.1(ALMS1):c.10918A>G (p.Ile3640Val)
NM_001378454.1(ALMS1):c.10925A>G (p.His3642Arg) rs1240495775
NM_001378454.1(ALMS1):c.10930C>G (p.Leu3644Val) rs1060500033
NM_001378454.1(ALMS1):c.1093G>T (p.Asp365Tyr) rs1229379546
NM_001378454.1(ALMS1):c.10942G>A (p.Glu3648Lys) rs397514576
NM_001378454.1(ALMS1):c.10946G>A (p.Ser3649Asn) rs2104105859
NM_001378454.1(ALMS1):c.10951C>T (p.His3651Tyr)
NM_001378454.1(ALMS1):c.10952A>G (p.His3651Arg) rs1294645835
NM_001378454.1(ALMS1):c.10966G>A (p.Gly3656Arg) rs1674968038
NM_001378454.1(ALMS1):c.1097A>G (p.Gln366Arg) rs2103715685
NM_001378454.1(ALMS1):c.10987T>G (p.Trp3663Gly) rs748921342
NM_001378454.1(ALMS1):c.10994G>T (p.Gly3665Val)
NM_001378454.1(ALMS1):c.11006A>G (p.Gln3669Arg) rs773767346
NM_001378454.1(ALMS1):c.11009G>C (p.Arg3670Thr) rs1674969661
NM_001378454.1(ALMS1):c.11028G>T (p.Lys3676Asn)
NM_001378454.1(ALMS1):c.1102T>G (p.Ser368Ala)
NM_001378454.1(ALMS1):c.11044C>G (p.Leu3682Val) rs1674970712
NM_001378454.1(ALMS1):c.11045_11056del (p.Leu3682_Ser3685del) rs757734472
NM_001378454.1(ALMS1):c.11057A>G (p.His3686Arg) rs912853018
NM_001378454.1(ALMS1):c.11057A>T (p.His3686Leu)
NM_001378454.1(ALMS1):c.11066C>T (p.Thr3689Ile)
NM_001378454.1(ALMS1):c.1106T>C (p.Val369Ala)
NM_001378454.1(ALMS1):c.11084G>A (p.Ser3695Asn) rs780014956
NM_001378454.1(ALMS1):c.11091G>A (p.Val3697=)
NM_001378454.1(ALMS1):c.11099ATC[1] (p.His3701del) rs1426150645
NM_001378454.1(ALMS1):c.110T>G (p.Val37Gly)
NM_001378454.1(ALMS1):c.11105G>T (p.Arg3702Leu)
NM_001378454.1(ALMS1):c.11107G>T (p.Ala3703Ser)
NM_001378454.1(ALMS1):c.11115G>T (p.Arg3705Ser) rs2104106559
NM_001378454.1(ALMS1):c.11119A>C (p.Asn3707His) rs200464290
NM_001378454.1(ALMS1):c.11119A>G (p.Asn3707Asp)
NM_001378454.1(ALMS1):c.11127T>G (p.Ile3709Met) rs2104106623
NM_001378454.1(ALMS1):c.11140A>G (p.Ile3714Val) rs370536187
NM_001378454.1(ALMS1):c.11150A>G (p.Asp3717Gly)
NM_001378454.1(ALMS1):c.11164A>G (p.Ser3722Gly) rs2104106753
NM_001378454.1(ALMS1):c.11177G>A (p.Gly3726Asp)
NM_001378454.1(ALMS1):c.11200T>A (p.Ser3734Thr) rs1209512957
NM_001378454.1(ALMS1):c.11201C>A (p.Ser3734Tyr)
NM_001378454.1(ALMS1):c.11204C>G (p.Ser3735Trp)
NM_001378454.1(ALMS1):c.11206G>C (p.Asp3736His)
NM_001378454.1(ALMS1):c.11207A>G (p.Asp3736Gly)
NM_001378454.1(ALMS1):c.11212C>T (p.Arg3738Trp)
NM_001378454.1(ALMS1):c.11213G>C (p.Arg3738Pro)
NM_001378454.1(ALMS1):c.11225A>T (p.Glu3742Val) rs1674978014
NM_001378454.1(ALMS1):c.1123A>G (p.Ile375Val)
NM_001378454.1(ALMS1):c.11240C>G (p.Thr3747Arg) rs2104107105
NM_001378454.1(ALMS1):c.11246C>A (p.Thr3749Asn)
NM_001378454.1(ALMS1):c.11246C>G (p.Thr3749Ser)
NM_001378454.1(ALMS1):c.11251A>G (p.Thr3751Ala)
NM_001378454.1(ALMS1):c.11254A>C (p.Asn3752His) rs777251736
NM_001378454.1(ALMS1):c.11260C>G (p.Leu3754Val)
NM_001378454.1(ALMS1):c.11263T>A (p.Ser3755Thr) rs878854995
NM_001378454.1(ALMS1):c.11268CAC[1] (p.Thr3758del)
NM_001378454.1(ALMS1):c.1126A>C (p.Thr376Pro) rs376750978
NM_001378454.1(ALMS1):c.11272A>G (p.Thr3758Ala)
NM_001378454.1(ALMS1):c.11278_11280del (p.Thr3760del)
NM_001378454.1(ALMS1):c.11279C>G (p.Thr3760Ser) rs370381761
NM_001378454.1(ALMS1):c.11282T>A (p.Val3761Asp)
NM_001378454.1(ALMS1):c.11308G>T (p.Asp3770Tyr)
NM_001378454.1(ALMS1):c.11309A>G (p.Asp3770Gly) rs770147613
NM_001378454.1(ALMS1):c.11319G>A (p.Val3773=)
NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val) rs771595125
NM_001378454.1(ALMS1):c.11327A>C (p.His3776Pro)
NM_001378454.1(ALMS1):c.11328C>G (p.His3776Gln) rs45596541
NM_001378454.1(ALMS1):c.11332A>T (p.Arg3778Trp) rs773130069
NM_001378454.1(ALMS1):c.11339G>T (p.Ser3780Ile) rs1674982019
NM_001378454.1(ALMS1):c.11340C>A (p.Ser3780Arg) rs2104107651
NM_001378454.1(ALMS1):c.11341T>C (p.Ser3781Pro)
NM_001378454.1(ALMS1):c.11354T>C (p.Ile3785Thr)
NM_001378454.1(ALMS1):c.11363C>G (p.Ala3788Gly)
NM_001378454.1(ALMS1):c.11366G>A (p.Arg3789Gln) rs1167052698
NM_001378454.1(ALMS1):c.11372T>C (p.Ile3791Thr)
NM_001378454.1(ALMS1):c.11373T>G (p.Ile3791Met) rs758244336
NM_001378454.1(ALMS1):c.11377G>T (p.Ala3793Ser)
NM_001378454.1(ALMS1):c.11378C>G (p.Ala3793Gly)
NM_001378454.1(ALMS1):c.1138A>G (p.Ile380Val)
NM_001378454.1(ALMS1):c.11392A>G (p.Arg3798Gly) rs1674983774
NM_001378454.1(ALMS1):c.11393G>C (p.Arg3798Thr) rs1006564458
NM_001378454.1(ALMS1):c.11398T>C (p.Cys3800Arg)
NM_001378454.1(ALMS1):c.11405C>T (p.Ser3802Leu)
NM_001378454.1(ALMS1):c.11408C>G (p.Pro3803Arg) rs2104108029
NM_001378454.1(ALMS1):c.11411G>A (p.Arg3804Lys) rs201028172
NM_001378454.1(ALMS1):c.11429G>A (p.Ser3810Asn)
NM_001378454.1(ALMS1):c.11430C>A (p.Ser3810Arg)
NM_001378454.1(ALMS1):c.11432G>A (p.Ser3811Asn)
NM_001378454.1(ALMS1):c.11434A>C (p.Ile3812Leu)
NM_001378454.1(ALMS1):c.11438C>G (p.Thr3813Ser) rs1183268252
NM_001378454.1(ALMS1):c.11441A>G (p.Asn3814Ser) rs763907736
NM_001378454.1(ALMS1):c.11450G>A (p.Arg3817Lys) rs909204912
NM_001378454.1(ALMS1):c.11455T>A (p.Tyr3819Asn) rs761539239
NM_001378454.1(ALMS1):c.1147A>G (p.Lys383Glu) rs1671348306
NM_001378454.1(ALMS1):c.11481C>T (p.Ser3827=) rs549156484
NM_001378454.1(ALMS1):c.11498C>T (p.Thr3833Ile) rs776648380
NM_001378454.1(ALMS1):c.11511A>G (p.Leu3837=) rs374164508
NM_001378454.1(ALMS1):c.11515A>G (p.Thr3839Ala) rs761578558
NM_001378454.1(ALMS1):c.11521G>A (p.Glu3841Lys)
NM_001378454.1(ALMS1):c.11546A>G (p.Gln3849Arg) rs1674988399
NM_001378454.1(ALMS1):c.11547+5A>G
NM_001378454.1(ALMS1):c.11547+6T>C
NM_001378454.1(ALMS1):c.11548-12_11548-11del rs767458195
NM_001378454.1(ALMS1):c.11548-8T>C
NM_001378454.1(ALMS1):c.11548G>T (p.Val3850Leu)
NM_001378454.1(ALMS1):c.11551G>A (p.Ala3851Thr) rs1454003034
NM_001378454.1(ALMS1):c.11559T>A (p.His3853Gln) rs186141821
NM_001378454.1(ALMS1):c.11559T>G (p.His3853Gln) rs186141821
NM_001378454.1(ALMS1):c.11596A>G (p.Ser3866Gly) rs2104188910
NM_001378454.1(ALMS1):c.115G>A (p.Asp39Asn)
NM_001378454.1(ALMS1):c.115G>T (p.Asp39Tyr) rs2104058286
NM_001378454.1(ALMS1):c.11601C>G (p.Phe3867Leu) rs80009262
NM_001378454.1(ALMS1):c.11612A>T (p.Asn3871Ile)
NM_001378454.1(ALMS1):c.11641C>G (p.His3881Asp)
NM_001378454.1(ALMS1):c.11645T>C (p.Met3882Thr)
NM_001378454.1(ALMS1):c.11646_11648dup (p.Leu3883dup) rs1468861836
NM_001378454.1(ALMS1):c.1165G>C (p.Asp389His) rs1671348747
NM_001378454.1(ALMS1):c.11662C>G (p.Gln3888Glu) rs541024346
NM_001378454.1(ALMS1):c.11665G>A (p.Ala3889Thr)
NM_001378454.1(ALMS1):c.11667A>G (p.Ala3889=) rs767848384
NM_001378454.1(ALMS1):c.11668+3A>G rs2104189383
NM_001378454.1(ALMS1):c.11688C>A (p.Asn3896Lys)
NM_001378454.1(ALMS1):c.11690G>A (p.Gly3897Asp)
NM_001378454.1(ALMS1):c.11695A>G (p.Lys3899Glu)
NM_001378454.1(ALMS1):c.11700A>C (p.Lys3900Asn) rs1224532344
NM_001378454.1(ALMS1):c.11710G>T (p.Asp3904Tyr)
NM_001378454.1(ALMS1):c.11711A>G (p.Asp3904Gly)
NM_001378454.1(ALMS1):c.11714T>C (p.Val3905Ala)
NM_001378454.1(ALMS1):c.11726T>C (p.Phe3909Ser)
NM_001378454.1(ALMS1):c.11743A>C (p.Ser3915Arg)
NM_001378454.1(ALMS1):c.11747A>G (p.Glu3916Gly) rs2104193436
NM_001378454.1(ALMS1):c.1174C>A (p.Arg392Ser) rs3813227
NM_001378454.1(ALMS1):c.11755T>G (p.Leu3919Val) rs750372739
NM_001378454.1(ALMS1):c.11756T>G (p.Leu3919Trp)
NM_001378454.1(ALMS1):c.11766C>G (p.Asn3922Lys) rs2104193506
NM_001378454.1(ALMS1):c.11798G>T (p.Arg3933Leu) rs45576434
NM_001378454.1(ALMS1):c.11802A>C (p.Glu3934Asp)
NM_001378454.1(ALMS1):c.11821G>T (p.Gly3941Cys) rs61741524
NM_001378454.1(ALMS1):c.11827C>G (p.Pro3943Ala)
NM_001378454.1(ALMS1):c.11840A>G (p.Lys3947Arg)
NM_001378454.1(ALMS1):c.11849A>C (p.Lys3950Thr) rs2104194109
NM_001378454.1(ALMS1):c.11850G>T (p.Lys3950Asn)
NM_001378454.1(ALMS1):c.11853C>A (p.Asn3951Lys)
NM_001378454.1(ALMS1):c.11853C>G (p.Asn3951Lys) rs577759803
NM_001378454.1(ALMS1):c.11854A>C (p.Lys3952Gln) rs771282076
NM_001378454.1(ALMS1):c.11863T>C (p.Ser3955Pro)
NM_001378454.1(ALMS1):c.11867A>C (p.His3956Pro)
NM_001378454.1(ALMS1):c.11873-13_11873-12delinsAC
NM_001378454.1(ALMS1):c.11873-8T>G rs2104195252
NM_001378454.1(ALMS1):c.1187A>T (p.Gln396Leu)
NM_001378454.1(ALMS1):c.11881T>C (p.Trp3961Arg) rs774496480
NM_001378454.1(ALMS1):c.11887G>A (p.Val3963Ile)
NM_001378454.1(ALMS1):c.11890C>T (p.Pro3964Ser)
NM_001378454.1(ALMS1):c.11895G>A (p.Val3965=) rs2104195453
NM_001378454.1(ALMS1):c.11908T>C (p.Ser3970Pro) rs200170158
NM_001378454.1(ALMS1):c.11923G>A (p.Glu3975Lys)
NM_001378454.1(ALMS1):c.11928C>A (p.Asn3976Lys)
NM_001378454.1(ALMS1):c.11948C>G (p.Pro3983Arg)
NM_001378454.1(ALMS1):c.11948C>T (p.Pro3983Leu) rs754031448
NM_001378454.1(ALMS1):c.11963T>C (p.Phe3988Ser)
NM_001378454.1(ALMS1):c.11964T>G (p.Phe3988Leu) rs2104195845
NM_001378454.1(ALMS1):c.11971A>C (p.Ile3991Leu)
NM_001378454.1(ALMS1):c.11971A>T (p.Ile3991Leu)
NM_001378454.1(ALMS1):c.11980A>G (p.Thr3994Ala)
NM_001378454.1(ALMS1):c.11998C>T (p.Pro4000Ser) rs767061718
NM_001378454.1(ALMS1):c.12010C>G (p.Gln4004Glu) rs2104196109
NM_001378454.1(ALMS1):c.12022G>C (p.Gly4008Arg)
NM_001378454.1(ALMS1):c.1202A>G (p.Glu401Gly)
NM_001378454.1(ALMS1):c.12036C>A (p.Asp4012Glu) rs370981817
NM_001378454.1(ALMS1):c.12041G>A (p.Arg4014Gln) rs768365250
NM_001378454.1(ALMS1):c.12047A>G (p.Tyr4016Cys)
NM_001378454.1(ALMS1):c.12062G>A (p.Gly4021Asp)
NM_001378454.1(ALMS1):c.12068A>G (p.Glu4023Gly)
NM_001378454.1(ALMS1):c.12071C>A (p.Ala4024Asp) rs372211401
NM_001378454.1(ALMS1):c.12104C>T (p.Ala4035Val)
NM_001378454.1(ALMS1):c.12115-13_12115-3del
NM_001378454.1(ALMS1):c.12115-3T>A
NM_001378454.1(ALMS1):c.1211C>G (p.Ser404Cys)
NM_001378454.1(ALMS1):c.12121C>T (p.Leu4041Phe) rs1313847991
NM_001378454.1(ALMS1):c.12131A>C (p.His4044Pro) rs993631169
NM_001378454.1(ALMS1):c.12137C>G (p.Pro4046Arg)
NM_001378454.1(ALMS1):c.12142T>A (p.Phe4048Ile) rs1675709581
NM_001378454.1(ALMS1):c.12152G>T (p.Arg4051Leu) rs750598025
NM_001378454.1(ALMS1):c.12152_12155delinsACAT (p.Arg4051_Ser4052delinsHisIle) rs1675710118
NM_001378454.1(ALMS1):c.12155C>T (p.Ser4052Phe) rs1190081649
NM_001378454.1(ALMS1):c.12157G>A (p.Gly4053Arg) rs2104199532
NM_001378454.1(ALMS1):c.12159G>C (p.Gly4053=)
NM_001378454.1(ALMS1):c.12159G>T (p.Gly4053=) rs2104199548
NM_001378454.1(ALMS1):c.12163C>G (p.Arg4055Gly)
NM_001378454.1(ALMS1):c.12163C>T (p.Arg4055Trp) rs569696567
NM_001378454.1(ALMS1):c.12173G>T (p.Arg4058Leu)
NM_001378454.1(ALMS1):c.12179A>G (p.Lys4060Arg)
NM_001378454.1(ALMS1):c.12185T>C (p.Ile4062Thr)
NM_001378454.1(ALMS1):c.12187G>C (p.Val4063Leu)
NM_001378454.1(ALMS1):c.12191A>G (p.Gln4064Arg) rs2104199743
NM_001378454.1(ALMS1):c.12194A>G (p.Glu4065Gly)
NM_001378454.1(ALMS1):c.1219G>A (p.Ala407Thr) rs2103716227
NM_001378454.1(ALMS1):c.121G>A (p.Val41Met)
NM_001378454.1(ALMS1):c.12202C>A (p.Leu4068Met)
NM_001378454.1(ALMS1):c.12215T>C (p.Leu4072Ser) rs2104199857
NM_001378454.1(ALMS1):c.12217C>G (p.Gln4073Glu) rs774835325
NM_001378454.1(ALMS1):c.12219G>T (p.Gln4073His) rs878854996
NM_001378454.1(ALMS1):c.12223G>A (p.Glu4075Lys)
NM_001378454.1(ALMS1):c.12238T>C (p.Phe4080Leu) rs2104200019
NM_001378454.1(ALMS1):c.12241A>C (p.Asn4081His) rs1398267811
NM_001378454.1(ALMS1):c.12265C>A (p.His4089Asn) rs2104200202
NM_001378454.1(ALMS1):c.1226C>G (p.Thr409Arg)
NM_001378454.1(ALMS1):c.12276C>T (p.Arg4092=)
NM_001378454.1(ALMS1):c.12298+3A>G
NM_001378454.1(ALMS1):c.12298+4C>T
NM_001378454.1(ALMS1):c.12298+6C>A
NM_001378454.1(ALMS1):c.12299-3T>C rs1553422034
NM_001378454.1(ALMS1):c.12305T>A (p.Leu4102Gln)
NM_001378454.1(ALMS1):c.12314A>C (p.Gln4105Pro)
NM_001378454.1(ALMS1):c.12316A>G (p.Lys4106Glu)
NM_001378454.1(ALMS1):c.12322A>G (p.Lys4108Glu)
NM_001378454.1(ALMS1):c.12328A>G (p.Ile4110Val)
NM_001378454.1(ALMS1):c.12342A>C (p.Glu4114Asp)
NM_001378454.1(ALMS1):c.12346A>T (p.Ile4116Phe)
NM_001378454.1(ALMS1):c.1234A>G (p.Thr412Ala)
NM_001378454.1(ALMS1):c.12359A>G (p.Lys4120Arg)
NM_001378454.1(ALMS1):c.12360A>T (p.Lys4120Asn) rs2104203046
NM_001378454.1(ALMS1):c.12361C>T (p.Arg4121Trp)
NM_001378454.1(ALMS1):c.12362+3A>G
NM_001378454.1(ALMS1):c.1236C>T (p.Thr412=)
NM_001378454.1(ALMS1):c.1237+4A>G rs747868844
NM_001378454.1(ALMS1):c.1238-12C>T
NM_001378454.1(ALMS1):c.1238-13T>A
NM_001378454.1(ALMS1):c.12382G>A (p.Glu4128Lys)
NM_001378454.1(ALMS1):c.12389A>T (p.Gln4130Leu) rs371587051
NM_001378454.1(ALMS1):c.12394A>C (p.Lys4132Gln)
NM_001378454.1(ALMS1):c.12394_12397del (p.Lys4132fs) rs776401197
NM_001378454.1(ALMS1):c.12398_12401del (p.Arg4133fs) rs761223068
NM_001378454.1(ALMS1):c.12399AGA[2] (p.Glu4136del) rs764575993
NM_001378454.1(ALMS1):c.123_124delinsCA (p.Val42Ile) rs1670514979
NM_001378454.1(ALMS1):c.12411_12415del (p.Arg4138fs) rs2104216255
NM_001378454.1(ALMS1):c.12416A>C (p.Lys4139Thr)
NM_001378454.1(ALMS1):c.12417A>T (p.Lys4139Asn)
NM_001378454.1(ALMS1):c.12424T>C (p.Tyr4142His) rs954710649
NM_001378454.1(ALMS1):c.12425A>T (p.Tyr4142Phe) rs775032572
NM_001378454.1(ALMS1):c.12437G>A (p.Arg4146Gln)
NM_001378454.1(ALMS1):c.12443G>A (p.Arg4148Gln)
NM_001378454.1(ALMS1):c.1244T>C (p.Leu415Pro)
NM_001378454.1(ALMS1):c.12455A>T (p.Tyr4152Phe)
NM_001378454.1(ALMS1):c.1245G>C (p.Leu415=)
NM_001378454.1(ALMS1):c.12460_12461del (p.Lys4154fs)
NM_001378454.1(ALMS1):c.12461del (p.Lys4154fs) rs1553422659
NM_001378454.1(ALMS1):c.12462+1G>T
NM_001378454.1(ALMS1):c.12462+1del rs750907119
NM_001378454.1(ALMS1):c.12462+5G>A rs1553422678
NM_001378454.1(ALMS1):c.12462+6T>C rs2104216517
NM_001378454.1(ALMS1):c.12463-1G>C
NM_001378454.1(ALMS1):c.12466G>A (p.Val4156Met)
NM_001378454.1(ALMS1):c.1247A>G (p.Gln416Arg) rs777072028
NM_001378454.1(ALMS1):c.1249G>A (p.Gly417Arg)
NM_001378454.1(ALMS1):c.12507A>G (p.Ter4169Trp)
NM_001378454.1(ALMS1):c.1254G>A (p.Lys418=)
NM_001378454.1(ALMS1):c.1254G>T (p.Lys418Asn)
NM_001378454.1(ALMS1):c.1255G>T (p.Val419Phe) rs1671381064
NM_001378454.1(ALMS1):c.1256T>G (p.Val419Gly)
NM_001378454.1(ALMS1):c.1259A>C (p.Glu420Ala)
NM_001378454.1(ALMS1):c.125T>A (p.Val42Asp) rs1337322908
NM_001378454.1(ALMS1):c.1266C>A (p.Asp422Glu) rs1396189205
NM_001378454.1(ALMS1):c.1267G>C (p.Val423Leu) rs45630557
NM_001378454.1(ALMS1):c.1297G>T (p.Ala433Ser) rs751744947
NM_001378454.1(ALMS1):c.1313A>C (p.Glu438Ala) rs753799992
NM_001378454.1(ALMS1):c.1336A>C (p.Lys446Gln)
NM_001378454.1(ALMS1):c.1338+3G>A
NM_001378454.1(ALMS1):c.1339-16A>T
NM_001378454.1(ALMS1):c.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.1352C>T (p.Ser451Leu)
NM_001378454.1(ALMS1):c.135G>T (p.Glu45Asp)
NM_001378454.1(ALMS1):c.135_143del (p.43VEE[1])
NM_001378454.1(ALMS1):c.135_143dup (p.Glu48_Glu49insValGluGlu)
NM_001378454.1(ALMS1):c.1360C>T (p.His454Tyr)
NM_001378454.1(ALMS1):c.1364C>G (p.Ser455Cys)
NM_001378454.1(ALMS1):c.1369G>T (p.Asp457Tyr) rs1671513924
NM_001378454.1(ALMS1):c.137T>C (p.Val46Ala)
NM_001378454.1(ALMS1):c.1386G>T (p.Arg462Ser) rs749794703
NM_001378454.1(ALMS1):c.1393C>T (p.Pro465Ser)
NM_001378454.1(ALMS1):c.141G>A (p.Glu47=)
NM_001378454.1(ALMS1):c.142G>C (p.Glu48Gln)
NM_001378454.1(ALMS1):c.1431A>G (p.Ala477=)
NM_001378454.1(ALMS1):c.1436A>G (p.Asp479Gly) rs1671839144
NM_001378454.1(ALMS1):c.1448G>C (p.Gly483Ala)
NM_001378454.1(ALMS1):c.144A>G (p.Glu48=) rs1670515874
NM_001378454.1(ALMS1):c.1451G>C (p.Gly484Ala)
NM_001378454.1(ALMS1):c.1461A>C (p.Lys487Asn) rs1671840179
NM_001378454.1(ALMS1):c.148_149delinsAA (p.Ala50Lys) rs2104058681
NM_001378454.1(ALMS1):c.1495A>G (p.Thr499Ala) rs2103771259
NM_001378454.1(ALMS1):c.1499_1500insGGG (p.Thr500_Pro501insGly)
NM_001378454.1(ALMS1):c.1520G>C (p.Gly507Ala) rs1553403257
NM_001378454.1(ALMS1):c.1521A>G (p.Gly507=)
NM_001378454.1(ALMS1):c.1540C>T (p.Leu514Phe) rs2103771365
NM_001378454.1(ALMS1):c.1552T>C (p.Ser518Pro)
NM_001378454.1(ALMS1):c.1556A>G (p.Gln519Arg) rs2103771395
NM_001378454.1(ALMS1):c.1559T>G (p.Leu520Trp)
NM_001378454.1(ALMS1):c.1562C>G (p.Ala521Gly)
NM_001378454.1(ALMS1):c.1564G>A (p.Val522Ile)
NM_001378454.1(ALMS1):c.1568G>A (p.Ser523Asn)
NM_001378454.1(ALMS1):c.157G>A (p.Glu53Lys) rs2104058756
NM_001378454.1(ALMS1):c.1589C>G (p.Thr530Ser)
NM_001378454.1(ALMS1):c.1591G>A (p.Gly531Ser)
NM_001378454.1(ALMS1):c.160T>G (p.Leu54Val) rs745737550
NM_001378454.1(ALMS1):c.161T>C (p.Leu54Ser) rs755760721
NM_001378454.1(ALMS1):c.1630G>A (p.Asp544Asn) rs1267086121
NM_001378454.1(ALMS1):c.163G>A (p.Asp55Asn)
NM_001378454.1(ALMS1):c.1667C>G (p.Ala556Gly) rs2103771804
NM_001378454.1(ALMS1):c.167C>G (p.Ser56Cys) rs2104058882
NM_001378454.1(ALMS1):c.1682C>G (p.Ala561Gly)
NM_001378454.1(ALMS1):c.1699A>G (p.Thr567Ala)
NM_001378454.1(ALMS1):c.1700C>G (p.Thr567Arg) rs752312999
NM_001378454.1(ALMS1):c.1705A>G (p.Thr569Ala) rs1671846580
NM_001378454.1(ALMS1):c.1707A>T (p.Thr569=)
NM_001378454.1(ALMS1):c.171C>G (p.Asp57Glu) rs2104058944
NM_001378454.1(ALMS1):c.1721C>T (p.Ser574Phe)
NM_001378454.1(ALMS1):c.1729C>T (p.His577Tyr) rs1671847160
NM_001378454.1(ALMS1):c.1736G>T (p.Gly579Val) rs2103772041
NM_001378454.1(ALMS1):c.1737G>T (p.Gly579=)
NM_001378454.1(ALMS1):c.1744A>C (p.Ser582Arg)
NM_001378454.1(ALMS1):c.1754A>C (p.Tyr585Ser)
NM_001378454.1(ALMS1):c.1761G>C (p.Gln587His) rs1553403313
NM_001378454.1(ALMS1):c.1762G>A (p.Gly588Ser)
NM_001378454.1(ALMS1):c.1772A>G (p.Asp591Gly)
NM_001378454.1(ALMS1):c.1778A>G (p.His593Arg) rs2103772175
NM_001378454.1(ALMS1):c.1792G>A (p.Ala598Thr) rs776537010
NM_001378454.1(ALMS1):c.1807G>A (p.Ala603Thr) rs745501026
NM_001378454.1(ALMS1):c.1807G>T (p.Ala603Ser)
NM_001378454.1(ALMS1):c.1813C>T (p.Pro605Ser) rs1671849058
NM_001378454.1(ALMS1):c.1816G>A (p.Gly606Arg) rs1553403321
NM_001378454.1(ALMS1):c.1828C>G (p.Gln610Glu)
NM_001378454.1(ALMS1):c.1832C>G (p.Thr611Arg) rs1382642304
NM_001378454.1(ALMS1):c.1837_1838delinsAA (p.Gly613Asn) rs2103772404
NM_001378454.1(ALMS1):c.1847C>T (p.Thr616Ile) rs2103772456
NM_001378454.1(ALMS1):c.184C>T (p.Pro62Ser)
NM_001378454.1(ALMS1):c.1852A>G (p.Thr618Ala)
NM_001378454.1(ALMS1):c.1854_1856dup (p.Ser619_Thr620insSer)
NM_001378454.1(ALMS1):c.1859C>G (p.Thr620Ser) rs1447523847
NM_001378454.1(ALMS1):c.1862C>T (p.Ser621Phe)
NM_001378454.1(ALMS1):c.1899A>T (p.Gln633His)
NM_001378454.1(ALMS1):c.1901A>G (p.Gln634Arg)
NM_001378454.1(ALMS1):c.1905G>C (p.Glu635Asp)
NM_001378454.1(ALMS1):c.1906T>C (p.Leu636=) rs2103772724
NM_001378454.1(ALMS1):c.1909C>A (p.Pro637Thr)
NM_001378454.1(ALMS1):c.1909C>T (p.Pro637Ser) rs2103772730
NM_001378454.1(ALMS1):c.1912G>A (p.Glu638Lys)
NM_001378454.1(ALMS1):c.1933C>G (p.Pro645Ala) rs146234123
NM_001378454.1(ALMS1):c.1941A>C (p.Glu647Asp) rs768031771
NM_001378454.1(ALMS1):c.1950T>C (p.Ala650=)
NM_001378454.1(ALMS1):c.1955C>G (p.Pro652Arg)
NM_001378454.1(ALMS1):c.1961C>T (p.Pro654Leu) rs2103772890
NM_001378454.1(ALMS1):c.1965G>A (p.Val655=) rs1553403345
NM_001378454.1(ALMS1):c.1966G>A (p.Glu656Lys)
NM_001378454.1(ALMS1):c.196G>A (p.Glu66Lys)
NM_001378454.1(ALMS1):c.1990G>T (p.Val664Leu) rs754619355
NM_001378454.1(ALMS1):c.199A>C (p.Ser67Arg) rs1670519049
NM_001378454.1(ALMS1):c.1A>C (p.Met1Leu)
NM_001378454.1(ALMS1):c.1A>G (p.Met1Val) rs1429891881
NM_001378454.1(ALMS1):c.2005C>A (p.His669Asn)
NM_001378454.1(ALMS1):c.2008T>A (p.Ser670Thr)
NM_001378454.1(ALMS1):c.2012A>G (p.His671Arg) rs1558647685
NM_001378454.1(ALMS1):c.2021A>G (p.Asp674Gly)
NM_001378454.1(ALMS1):c.2026C>G (p.Leu676Val)
NM_001378454.1(ALMS1):c.2029T>G (p.Phe677Val)
NM_001378454.1(ALMS1):c.203T>C (p.Ile68Thr) rs765378599
NM_001378454.1(ALMS1):c.204_212del (p.Ile68_Glu71delinsMet) rs1553396244
NM_001378454.1(ALMS1):c.2057G>A (p.Gly686Asp)
NM_001378454.1(ALMS1):c.2065A>C (p.Thr689Pro)
NM_001378454.1(ALMS1):c.2071C>A (p.Gln691Lys) rs752875933
NM_001378454.1(ALMS1):c.2074G>T (p.Ala692Ser) rs1309166073
NM_001378454.1(ALMS1):c.2083G>A (p.Val695Ile)
NM_001378454.1(ALMS1):c.208G>A (p.Asp70Asn) rs2104059373
NM_001378454.1(ALMS1):c.2093_2107del (p.Val698_Ala702del) rs1671856599
NM_001378454.1(ALMS1):c.209ACGAGGAGG[1] (p.70DEE[1]) rs772848105
NM_001378454.1(ALMS1):c.209ACGAGGAGG[3] (p.70DEE[3]) rs772848105
NM_001378454.1(ALMS1):c.2117C>T (p.Thr706Ile)
NM_001378454.1(ALMS1):c.211G>C (p.Glu71Gln) rs757131983
NM_001378454.1(ALMS1):c.2120G>A (p.Gly707Glu) rs1427149217
NM_001378454.1(ALMS1):c.2121G>T (p.Gly707=) rs878854997
NM_001378454.1(ALMS1):c.2126C>T (p.Ala709Val) rs2103773702
NM_001378454.1(ALMS1):c.2129C>G (p.Thr710Arg)
NM_001378454.1(ALMS1):c.2130A>T (p.Thr710=)
NM_001378454.1(ALMS1):c.2131G>A (p.Val711Ile) rs747790543
NM_001378454.1(ALMS1):c.2136C>G (p.Leu712=)
NM_001378454.1(ALMS1):c.2138C>T (p.Ser713Phe)
NM_001378454.1(ALMS1):c.2144C>G (p.Pro715Arg)
NM_001378454.1(ALMS1):c.2147A>G (p.His716Arg)
NM_001378454.1(ALMS1):c.2153A>T (p.His718Leu) rs1182404684
NM_001378454.1(ALMS1):c.2170A>G (p.Ile724Val) rs1671859518
NM_001378454.1(ALMS1):c.2177A>C (p.Tyr726Ser)
NM_001378454.1(ALMS1):c.218A>C (p.Asp73Ala)
NM_001378454.1(ALMS1):c.2199T>A (p.Ser733Arg) rs1671860790
NM_001378454.1(ALMS1):c.2203C>G (p.Gln735Glu)
NM_001378454.1(ALMS1):c.2207_2299del (p.Thr736_Gln766del) rs1671861000
NM_001378454.1(ALMS1):c.220_228dup (p.Glu74_Ala76dup) rs762635802
NM_001378454.1(ALMS1):c.2215A>T (p.Thr739Ser) rs2103774232
NM_001378454.1(ALMS1):c.2218C>G (p.Leu740Val)
NM_001378454.1(ALMS1):c.2218C>T (p.Leu740Phe)
NM_001378454.1(ALMS1):c.2222C>T (p.Thr741Ile) rs758047046
NM_001378454.1(ALMS1):c.2223T>A (p.Thr741=)
NM_001378454.1(ALMS1):c.2226A>G (p.Lys742=)
NM_001378454.1(ALMS1):c.2227G>C (p.Val743Leu) rs1046271130
NM_001378454.1(ALMS1):c.2230T>G (p.Ser744Ala) rs2103774349
NM_001378454.1(ALMS1):c.2237C>T (p.Thr746Ile)
NM_001378454.1(ALMS1):c.2243G>T (p.Gly748Val)
NM_001378454.1(ALMS1):c.2248G>T (p.Ala750Ser)
NM_001378454.1(ALMS1):c.2249C>T (p.Ala750Val) rs2103774445
NM_001378454.1(ALMS1):c.2251G>A (p.Asp751Asn)
NM_001378454.1(ALMS1):c.2260A>T (p.Thr754Ser) rs781628262
NM_001378454.1(ALMS1):c.2279A>G (p.Gln760Arg) rs1572932391
NM_001378454.1(ALMS1):c.2281T>G (p.Ser761Ala)
NM_001378454.1(ALMS1):c.2284A>G (p.Ser762Gly)
NM_001378454.1(ALMS1):c.2291A>G (p.Tyr764Cys)
NM_001378454.1(ALMS1):c.2293_3150del (p.Ser765_Tyr1050del) rs2103774407
NM_001378454.1(ALMS1):c.2306A>G (p.Lys769Arg)
NM_001378454.1(ALMS1):c.2312G>A (p.Ser771Asn) rs2103774719
NM_001378454.1(ALMS1):c.2339A>T (p.Asp780Val) rs756716132
NM_001378454.1(ALMS1):c.2350C>A (p.Pro784Thr)
NM_001378454.1(ALMS1):c.2358G>T (p.Glu786Asp) rs2103774906
NM_001378454.1(ALMS1):c.2359G>A (p.Gly787Ser)
NM_001378454.1(ALMS1):c.2366A>C (p.Lys789Thr)
NM_001378454.1(ALMS1):c.2374G>C (p.Ala792Pro) rs1181372708
NM_001378454.1(ALMS1):c.2410C>G (p.Pro804Ala) rs1391556218
NM_001378454.1(ALMS1):c.2411C>A (p.Pro804Gln) rs2103775015
NM_001378454.1(ALMS1):c.2414C>G (p.Thr805Arg) rs1671867434
NM_001378454.1(ALMS1):c.241C>G (p.Gln81Glu) rs778264668
NM_001378454.1(ALMS1):c.2423C>T (p.Ser808Phe) rs1389525541
NM_001378454.1(ALMS1):c.2431T>C (p.Tyr811His)
NM_001378454.1(ALMS1):c.2434T>C (p.Ser812Pro)
NM_001378454.1(ALMS1):c.2443G>A (p.Glu815Lys) rs370978261
NM_001378454.1(ALMS1):c.2471C>A (p.Ala824Asp) rs754424459
NM_001378454.1(ALMS1):c.2476C>A (p.Leu826Met) rs2103775303
NM_001378454.1(ALMS1):c.2478_2479delinsCT (p.Asp827Tyr)
NM_001378454.1(ALMS1):c.2498A>G (p.Glu833Gly)
NM_001378454.1(ALMS1):c.249C>A (p.His83Gln)
NM_001378454.1(ALMS1):c.2500G>T (p.Ala834Ser)
NM_001378454.1(ALMS1):c.2503C>G (p.Leu835Val) rs2103775468
NM_001378454.1(ALMS1):c.251C>T (p.Pro84Leu)
NM_001378454.1(ALMS1):c.253G>A (p.Gly85Ser)
NM_001378454.1(ALMS1):c.2544T>G (p.Thr848=)
NM_001378454.1(ALMS1):c.2546G>A (p.Gly849Glu)
NM_001378454.1(ALMS1):c.2548A>G (p.Thr850Ala) rs1304119807
NM_001378454.1(ALMS1):c.254G>A (p.Gly85Asp) rs1574424065
NM_001378454.1(ALMS1):c.2554G>A (p.Ala852Thr)
NM_001378454.1(ALMS1):c.2555C>T (p.Ala852Val)
NM_001378454.1(ALMS1):c.2561C>G (p.Thr854Ser)
NM_001378454.1(ALMS1):c.2566A>G (p.Thr856Ala)
NM_001378454.1(ALMS1):c.256A>G (p.Arg86Gly)
NM_001378454.1(ALMS1):c.2570C>A (p.Ser857Tyr)
NM_001378454.1(ALMS1):c.2575G>C (p.Ala859Pro) rs2103775737
NM_001378454.1(ALMS1):c.2596A>G (p.Lys866Glu) rs2103775820
NM_001378454.1(ALMS1):c.2615A>G (p.Gln872Arg) rs2103775891
NM_001378454.1(ALMS1):c.263T>C (p.Leu88Ser) rs2104059929
NM_001378454.1(ALMS1):c.2645A>G (p.Glu882Gly)
NM_001378454.1(ALMS1):c.2651C>T (p.Ala884Val)
NM_001378454.1(ALMS1):c.265C>T (p.Pro89Ser) rs956834448
NM_001378454.1(ALMS1):c.2664A>C (p.Ser888=)
NM_001378454.1(ALMS1):c.2665A>T (p.Ile889Phe)
NM_001378454.1(ALMS1):c.2678C>T (p.Pro893Leu) rs1671874349
NM_001378454.1(ALMS1):c.2683_2685del (p.Asp895del) rs763288832
NM_001378454.1(ALMS1):c.2684A>G (p.Asp895Gly)
NM_001378454.1(ALMS1):c.2687A>T (p.Gln896Leu) rs1671874811
NM_001378454.1(ALMS1):c.268C>T (p.Pro90Ser)
NM_001378454.1(ALMS1):c.2695G>A (p.Gly899Arg) rs1671874954
NM_001378454.1(ALMS1):c.269C>T (p.Pro90Leu)
NM_001378454.1(ALMS1):c.2700A>G (p.Ile900Met)
NM_001378454.1(ALMS1):c.2702C>T (p.Pro901Leu) rs2103776209
NM_001378454.1(ALMS1):c.2721C>A (p.Phe907Leu) rs2103776271
NM_001378454.1(ALMS1):c.2726C>T (p.Ser909Leu) rs746640196
NM_001378454.1(ALMS1):c.272T>A (p.Leu91Gln)
NM_001378454.1(ALMS1):c.2737A>G (p.Lys913Glu) rs2103776357
NM_001378454.1(ALMS1):c.2745T>G (p.Ile915Met) rs2103776397
NM_001378454.1(ALMS1):c.2746A>G (p.Ile916Val) rs1355707191
NM_001378454.1(ALMS1):c.2751T>A (p.Phe917Leu)
NM_001378454.1(ALMS1):c.2761A>G (p.Thr921Ala)
NM_001378454.1(ALMS1):c.2768C>G (p.Pro923Arg)
NM_001378454.1(ALMS1):c.2770G>C (p.Asp924His)
NM_001378454.1(ALMS1):c.277C>T (p.Pro93Ser)
NM_001378454.1(ALMS1):c.2780T>A (p.Phe927Tyr)
NM_001378454.1(ALMS1):c.2800G>T (p.Val934Phe)
NM_001378454.1(ALMS1):c.280C>G (p.Pro94Ala) rs775431837
NM_001378454.1(ALMS1):c.281C>G (p.Pro94Arg)
NM_001378454.1(ALMS1):c.281C>T (p.Pro94Leu)
NM_001378454.1(ALMS1):c.2820G>A (p.Leu940=)
NM_001378454.1(ALMS1):c.283C>A (p.Gln95Lys)
NM_001378454.1(ALMS1):c.2848G>A (p.Val950Met) rs370733145
NM_001378454.1(ALMS1):c.2848G>T (p.Val950Leu) rs370733145
NM_001378454.1(ALMS1):c.284A>G (p.Gln95Arg)
NM_001378454.1(ALMS1):c.2863C>T (p.His955Tyr)
NM_001378454.1(ALMS1):c.2866T>C (p.Ser956Pro)
NM_001378454.1(ALMS1):c.2867C>T (p.Ser956Leu)
NM_001378454.1(ALMS1):c.2873G>A (p.Ser958Asn)
NM_001378454.1(ALMS1):c.2875G>A (p.Glu959Lys)
NM_001378454.1(ALMS1):c.2882C>G (p.Ser961Cys) rs2103776868
NM_001378454.1(ALMS1):c.2884A>G (p.Ser962Gly)
NM_001378454.1(ALMS1):c.2890T>G (p.Phe964Val) rs2103776905
NM_001378454.1(ALMS1):c.2894A>G (p.Tyr965Cys) rs1671879952
NM_001378454.1(ALMS1):c.2896C>G (p.Gln966Glu) rs761177629
NM_001378454.1(ALMS1):c.2898G>T (p.Gln966His) rs2103776938
NM_001378454.1(ALMS1):c.2907G>T (p.Leu969Phe)
NM_001378454.1(ALMS1):c.2914A>T (p.Ser972Cys)
NM_001378454.1(ALMS1):c.2930A>T (p.Glu977Val)
NM_001378454.1(ALMS1):c.2943G>C (p.Met981Ile) rs757088179
NM_001378454.1(ALMS1):c.2950A>G (p.Ile984Val)
NM_001378454.1(ALMS1):c.2954C>T (p.Pro985Leu)
NM_001378454.1(ALMS1):c.2969A>G (p.Gln990Arg)
NM_001378454.1(ALMS1):c.2974A>C (p.Thr992Pro) rs2103777146
NM_001378454.1(ALMS1):c.2981C>G (p.Pro994Arg)
NM_001378454.1(ALMS1):c.2983A>G (p.Thr995Ala) rs776162820
NM_001378454.1(ALMS1):c.2989A>G (p.Thr997Ala)
NM_001378454.1(ALMS1):c.3002G>A (p.Gly1001Asp) rs773630367
NM_001378454.1(ALMS1):c.301G>A (p.Gly101Ser)
NM_001378454.1(ALMS1):c.3027C>T (p.Pro1009=)
NM_001378454.1(ALMS1):c.302G>A (p.Gly101Asp)
NM_001378454.1(ALMS1):c.303C>T (p.Gly101=)
NM_001378454.1(ALMS1):c.3049T>A (p.Trp1017Arg)
NM_001378454.1(ALMS1):c.3067A>G (p.Thr1023Ala) rs1553403605
NM_001378454.1(ALMS1):c.306G>T (p.Glu102Asp) rs2104060344
NM_001378454.1(ALMS1):c.3072A>C (p.Glu1024Asp) rs1671884089
NM_001378454.1(ALMS1):c.3091A>C (p.Thr1031Pro) rs72811915
NM_001378454.1(ALMS1):c.3091_3231del (p.Thr1031_Ser1077del)
NM_001378454.1(ALMS1):c.3127C>A (p.Pro1043Thr) rs376987487
NM_001378454.1(ALMS1):c.3127C>T (p.Pro1043Ser) rs376987487
NM_001378454.1(ALMS1):c.3142A>G (p.Ser1048Gly) rs2103777784
NM_001378454.1(ALMS1):c.3143G>T (p.Ser1048Ile)
NM_001378454.1(ALMS1):c.3145T>A (p.Ser1049Thr)
NM_001378454.1(ALMS1):c.314C>A (p.Ser105Tyr) rs1328427718
NM_001378454.1(ALMS1):c.3166C>T (p.Pro1056Ser)
NM_001378454.1(ALMS1):c.3169A>G (p.Ser1057Gly) rs750417761
NM_001378454.1(ALMS1):c.3169A>T (p.Ser1057Cys)
NM_001378454.1(ALMS1):c.3181C>T (p.Pro1061Ser) rs754651123
NM_001378454.1(ALMS1):c.319G>C (p.Glu107Gln)
NM_001378454.1(ALMS1):c.3202C>A (p.His1068Asn)
NM_001378454.1(ALMS1):c.3232G>C (p.Ala1078Pro) rs1249823614
NM_001378454.1(ALMS1):c.3233C>T (p.Ala1078Val)
NM_001378454.1(ALMS1):c.3236T>G (p.Phe1079Cys)
NM_001378454.1(ALMS1):c.3238C>T (p.Pro1080Ser)
NM_001378454.1(ALMS1):c.3239C>T (p.Pro1080Leu) rs1671888366
NM_001378454.1(ALMS1):c.324+4A>G rs1553396304
NM_001378454.1(ALMS1):c.324+5G>T
NM_001378454.1(ALMS1):c.324G>C (p.Lys108Asn)
NM_001378454.1(ALMS1):c.3254A>T (p.Gln1085Leu)
NM_001378454.1(ALMS1):c.3255G>T (p.Gln1085His) rs181507134
NM_001378454.1(ALMS1):c.325A>G (p.Ile109Val)
NM_001378454.1(ALMS1):c.3260C>T (p.Thr1087Ile)
NM_001378454.1(ALMS1):c.3265A>G (p.Thr1089Ala)
NM_001378454.1(ALMS1):c.3266C>A (p.Thr1089Lys) rs556855697
NM_001378454.1(ALMS1):c.3266C>T (p.Thr1089Ile) rs556855697
NM_001378454.1(ALMS1):c.3268C>T (p.Pro1090Ser)
NM_001378454.1(ALMS1):c.3278C>A (p.Pro1093Gln)
NM_001378454.1(ALMS1):c.3284C>G (p.Thr1095Ser)
NM_001378454.1(ALMS1):c.328G>A (p.Val110Ile) rs2103675391
NM_001378454.1(ALMS1):c.3292T>C (p.Ser1098Pro) rs1553403651
NM_001378454.1(ALMS1):c.3300A>C (p.Arg1100Ser)
NM_001378454.1(ALMS1):c.3320A>G (p.Tyr1107Cys)
NM_001378454.1(ALMS1):c.3331T>A (p.Leu1111Met)
NM_001378454.1(ALMS1):c.3350C>G (p.Pro1117Arg)
NM_001378454.1(ALMS1):c.3362T>C (p.Leu1121Pro)
NM_001378454.1(ALMS1):c.3366A>C (p.Lys1122Asn) rs1254282900
NM_001378454.1(ALMS1):c.3386T>A (p.Leu1129Gln) rs2103778692
NM_001378454.1(ALMS1):c.3389C>G (p.Ala1130Gly)
NM_001378454.1(ALMS1):c.338C>T (p.Thr113Ile) rs1417754706
NM_001378454.1(ALMS1):c.3399G>T (p.Lys1133Asn)
NM_001378454.1(ALMS1):c.3401C>G (p.Thr1134Ser)
NM_001378454.1(ALMS1):c.3407C>G (p.Thr1136Arg)
NM_001378454.1(ALMS1):c.3409C>T (p.Pro1137Ser) rs2103778839
NM_001378454.1(ALMS1):c.3416T>C (p.Val1139Ala)
NM_001378454.1(ALMS1):c.3428C>T (p.Ser1143Phe)
NM_001378454.1(ALMS1):c.3436C>A (p.Gln1146Lys) rs2103778961
NM_001378454.1(ALMS1):c.3440A>T (p.His1147Leu)
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile) rs752342634
NM_001378454.1(ALMS1):c.3472G>C (p.Ala1158Pro) rs376302473
NM_001378454.1(ALMS1):c.3488A>T (p.His1163Leu)
NM_001378454.1(ALMS1):c.3490A>G (p.Ile1164Val)
NM_001378454.1(ALMS1):c.3503C>T (p.Ala1168Val) rs2103779179
NM_001378454.1(ALMS1):c.3510A>C (p.Lys1170Asn) rs1671897603
NM_001378454.1(ALMS1):c.3523A>G (p.Thr1175Ala) rs1321889913
NM_001378454.1(ALMS1):c.3547T>C (p.Trp1183Arg) rs2103779356
NM_001378454.1(ALMS1):c.354A>G (p.Gln118=) rs531782624
NM_001378454.1(ALMS1):c.3550A>T (p.Ile1184Leu)
NM_001378454.1(ALMS1):c.3552A>G (p.Ile1184Met) rs2103779378
NM_001378454.1(ALMS1):c.3563T>G (p.Leu1188Arg)
NM_001378454.1(ALMS1):c.3566C>T (p.Ser1189Phe)
NM_001378454.1(ALMS1):c.3570C>T (p.Thr1190=)
NM_001378454.1(ALMS1):c.3574T>C (p.Tyr1192His) rs1553403697
NM_001378454.1(ALMS1):c.3574T>G (p.Tyr1192Asp) rs1553403697
NM_001378454.1(ALMS1):c.3575A>G (p.Tyr1192Cys)
NM_001378454.1(ALMS1):c.3596G>A (p.Gly1199Asp) rs1572934110
NM_001378454.1(ALMS1):c.3596G>C (p.Gly1199Ala)
NM_001378454.1(ALMS1):c.35_36insCGAGGAGGAGGAGGA (p.Glu28_Ala29insGluGluGluGluGlu)
NM_001378454.1(ALMS1):c.35_37dup (p.Leu12_Glu13insVal) rs1244345693
NM_001378454.1(ALMS1):c.3610C>A (p.Gln1204Lys) rs2103779570
NM_001378454.1(ALMS1):c.3617T>C (p.Leu1206Ser)
NM_001378454.1(ALMS1):c.3631A>G (p.Ile1211Val)
NM_001378454.1(ALMS1):c.3635C>T (p.Pro1212Leu) rs747033635
NM_001378454.1(ALMS1):c.3644C>T (p.Ala1215Val)
NM_001378454.1(ALMS1):c.3664C>A (p.Leu1222Ile)
NM_001378454.1(ALMS1):c.3667G>A (p.Gly1223Arg)
NM_001378454.1(ALMS1):c.3676_3693del (p.Asp1226_Thr1231del) rs2103779760
NM_001378454.1(ALMS1):c.3694C>T (p.Pro1232Ser)
NM_001378454.1(ALMS1):c.36GGA[21] (p.Glu21_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.3701C>A (p.Pro1234Gln)
NM_001378454.1(ALMS1):c.3701C>T (p.Pro1234Leu)
NM_001378454.1(ALMS1):c.3703A>G (p.Thr1235Ala)
NM_001378454.1(ALMS1):c.3706T>A (p.Ser1236Thr)
NM_001378454.1(ALMS1):c.3706T>C (p.Ser1236Pro)
NM_001378454.1(ALMS1):c.3712T>G (p.Ser1238Ala)
NM_001378454.1(ALMS1):c.3725C>G (p.Thr1242Arg) rs1238618740
NM_001378454.1(ALMS1):c.3728A>G (p.Glu1243Gly)
NM_001378454.1(ALMS1):c.3730A>G (p.Lys1244Glu) rs757303904
NM_001378454.1(ALMS1):c.3734C>G (p.Pro1245Arg) rs1558648928
NM_001378454.1(ALMS1):c.3734C>T (p.Pro1245Leu) rs1558648928
NM_001378454.1(ALMS1):c.3752A>G (p.Gln1251Arg)
NM_001378454.1(ALMS1):c.3755T>G (p.Val1252Gly)
NM_001378454.1(ALMS1):c.375TAG[1] (p.Ser126del) rs760942576
NM_001378454.1(ALMS1):c.3769C>T (p.His1257Tyr)
NM_001378454.1(ALMS1):c.3799G>A (p.Val1267Ile) rs770278707
NM_001378454.1(ALMS1):c.3799G>C (p.Val1267Leu)
NM_001378454.1(ALMS1):c.3799G>T (p.Val1267Phe)
NM_001378454.1(ALMS1):c.379A>G (p.Arg127Gly)
NM_001378454.1(ALMS1):c.3809A>G (p.Glu1270Gly)
NM_001378454.1(ALMS1):c.3812C>T (p.Pro1271Leu) rs372563916
NM_001378454.1(ALMS1):c.3833C>T (p.Thr1278Ile) rs1292358818
NM_001378454.1(ALMS1):c.3835C>T (p.Pro1279Ser) rs1422410913
NM_001378454.1(ALMS1):c.3838G>A (p.Ala1280Thr) rs767729719
NM_001378454.1(ALMS1):c.3838G>C (p.Ala1280Pro) rs767729719
NM_001378454.1(ALMS1):c.3838_4122del (p.Ala1280_Pro1374del) rs2103780150
NM_001378454.1(ALMS1):c.3839C>G (p.Ala1280Gly)
NM_001378454.1(ALMS1):c.3850A>G (p.Thr1284Ala) rs1366506910
NM_001378454.1(ALMS1):c.3853T>G (p.Ser1285Ala)
NM_001378454.1(ALMS1):c.3857A>C (p.Tyr1286Ser) rs2103780445
NM_001378454.1(ALMS1):c.3859T>C (p.Ser1287Pro)
NM_001378454.1(ALMS1):c.3874A>G (p.Lys1292Glu) rs2103780517
NM_001378454.1(ALMS1):c.387A>C (p.Gln129His)
NM_001378454.1(ALMS1):c.3897G>T (p.Gln1299His) rs745335322
NM_001378454.1(ALMS1):c.3899C>T (p.Ser1300Leu) rs769219669
NM_001378454.1(ALMS1):c.38A>G (p.Glu13Gly) rs1574423651
NM_001378454.1(ALMS1):c.3907A>G (p.Ser1303Gly)
NM_001378454.1(ALMS1):c.3907AGT[1] (p.Ser1304del) rs775132874
NM_001378454.1(ALMS1):c.3915T>C (p.His1305=)
NM_001378454.1(ALMS1):c.3920C>T (p.Thr1307Ile)
NM_001378454.1(ALMS1):c.3922G>A (p.Glu1308Lys)
NM_001378454.1(ALMS1):c.3936_4220del (p.Ala1320_Pro1414del) rs2103780643
NM_001378454.1(ALMS1):c.3938T>C (p.Val1313Ala)
NM_001378454.1(ALMS1):c.3941C>T (p.Ser1314Leu) rs2103780749
NM_001378454.1(ALMS1):c.3961G>T (p.Asp1321Tyr) rs2103780841
NM_001378454.1(ALMS1):c.3963C>G (p.Asp1321Glu)
NM_001378454.1(ALMS1):c.3967A>G (p.Lys1323Glu)
NM_001378454.1(ALMS1):c.3970A>G (p.Thr1324Ala) rs1671910039
NM_001378454.1(ALMS1):c.3978A>G (p.Ile1326Met) rs2103780894
NM_001378454.1(ALMS1):c.3980C>T (p.Pro1327Leu) rs764135588
NM_001378454.1(ALMS1):c.398C>T (p.Thr133Ile) rs1348003970
NM_001378454.1(ALMS1):c.3992C>T (p.Ser1331Phe)
NM_001378454.1(ALMS1):c.3999C>G (p.Phe1333Leu)
NM_001378454.1(ALMS1):c.4002C>T (p.Tyr1334=)
NM_001378454.1(ALMS1):c.4007A>G (p.His1336Arg) rs2103780957
NM_001378454.1(ALMS1):c.4012G>C (p.Glu1338Gln)
NM_001378454.1(ALMS1):c.4022G>A (p.Gly1341Asp) rs1671911104
NM_001378454.1(ALMS1):c.4022G>C (p.Gly1341Ala)
NM_001378454.1(ALMS1):c.4024G>T (p.Val1342Phe)
NM_001378454.1(ALMS1):c.4025T>G (p.Val1342Gly) rs939609171
NM_001378454.1(ALMS1):c.4028T>C (p.Phe1343Ser)
NM_001378454.1(ALMS1):c.4036C>G (p.Gln1346Glu)
NM_001378454.1(ALMS1):c.4051A>T (p.Ser1351Cys) rs779496090
NM_001378454.1(ALMS1):c.4052G>A (p.Ser1351Asn)
NM_001378454.1(ALMS1):c.4057C>T (p.Pro1353Ser) rs1005994594
NM_001378454.1(ALMS1):c.4060A>C (p.Thr1354Pro) rs1330377280
NM_001378454.1(ALMS1):c.4060A>G (p.Thr1354Ala) rs1330377280
NM_001378454.1(ALMS1):c.4082C>T (p.Ser1361Leu) rs2103781298
NM_001378454.1(ALMS1):c.4084G>T (p.Val1362Phe)
NM_001378454.1(ALMS1):c.4091C>T (p.Ser1364Phe)
NM_001378454.1(ALMS1):c.4103A>G (p.Asp1368Gly)
NM_001378454.1(ALMS1):c.410G>C (p.Cys137Ser)
NM_001378454.1(ALMS1):c.4110_4112dup (p.Thr1371dup) rs1448848361
NM_001378454.1(ALMS1):c.4115G>T (p.Gly1372Val)
NM_001378454.1(ALMS1):c.4118C>T (p.Thr1373Ile) rs1671914302
NM_001378454.1(ALMS1):c.4134_4418del (p.Thr1379_Ser1473del) rs2103781426
NM_001378454.1(ALMS1):c.4136C>T (p.Thr1379Ile)
NM_001378454.1(ALMS1):c.4151A>G (p.His1384Arg)
NM_001378454.1(ALMS1):c.4160A>C (p.Lys1387Thr) rs1264554750
NM_001378454.1(ALMS1):c.4165A>G (p.Ser1389Gly) rs866496302
NM_001378454.1(ALMS1):c.4170T>G (p.Ile1390Met) rs1671916265
NM_001378454.1(ALMS1):c.4172T>C (p.Phe1391Ser)
NM_001378454.1(ALMS1):c.4184C>T (p.Ser1395Leu)
NM_001378454.1(ALMS1):c.4213G>A (p.Ala1405Thr) rs1671917742
NM_001378454.1(ALMS1):c.4216A>G (p.Lys1406Glu)
NM_001378454.1(ALMS1):c.4223T>C (p.Val1408Ala) rs750124571
NM_001378454.1(ALMS1):c.4229C>T (p.Ala1410Val)
NM_001378454.1(ALMS1):c.422C>T (p.Thr141Ile)
NM_001378454.1(ALMS1):c.4235C>T (p.Pro1412Leu)
NM_001378454.1(ALMS1):c.4241C>G (p.Pro1414Arg)
NM_001378454.1(ALMS1):c.4243G>C (p.Gly1415Arg) rs2103781986
NM_001378454.1(ALMS1):c.4250G>A (p.Arg1417Gln) rs771362238
NM_001378454.1(ALMS1):c.425C>T (p.Ala142Val) rs2103675826
NM_001378454.1(ALMS1):c.4265C>T (p.Pro1422Leu)
NM_001378454.1(ALMS1):c.4268C>T (p.Thr1423Ile)
NM_001378454.1(ALMS1):c.4286A>C (p.Tyr1429Ser) rs763136053
NM_001378454.1(ALMS1):c.4288T>G (p.Ser1430Ala) rs1671920005
NM_001378454.1(ALMS1):c.4291C>A (p.His1431Asn)
NM_001378454.1(ALMS1):c.4306G>A (p.Gly1436Ser) rs759249886
NM_001378454.1(ALMS1):c.4310G>T (p.Ser1437Ile)
NM_001378454.1(ALMS1):c.4316A>G (p.Tyr1439Cys)
NM_001378454.1(ALMS1):c.4333C>T (p.His1445Tyr) rs746087402
NM_001378454.1(ALMS1):c.4338T>G (p.Ser1446Arg)
NM_001378454.1(ALMS1):c.4339C>T (p.His1447Tyr)
NM_001378454.1(ALMS1):c.4354G>A (p.Ala1452Thr)
NM_001378454.1(ALMS1):c.4363G>A (p.Val1455Ile) rs1445707777
NM_001378454.1(ALMS1):c.4369G>T (p.Val1457Phe) rs373453289
NM_001378454.1(ALMS1):c.4375C>G (p.Pro1459Ala)
NM_001378454.1(ALMS1):c.4381C>A (p.Pro1461Thr) rs2103782534
NM_001378454.1(ALMS1):c.4388_4528del (p.Asp1463_Val1509del)
NM_001378454.1(ALMS1):c.4391A>G (p.Gln1464Arg)
NM_001378454.1(ALMS1):c.4391A>T (p.Gln1464Leu)
NM_001378454.1(ALMS1):c.4404A>G (p.Thr1468=)
NM_001378454.1(ALMS1):c.4415C>T (p.Thr1472Ile)
NM_001378454.1(ALMS1):c.4426A>G (p.Ser1476Gly)
NM_001378454.1(ALMS1):c.4427G>C (p.Ser1476Thr)
NM_001378454.1(ALMS1):c.4436G>A (p.Gly1479Glu)
NM_001378454.1(ALMS1):c.4436G>T (p.Gly1479Val)
NM_001378454.1(ALMS1):c.4446C>T (p.Pro1482=)
NM_001378454.1(ALMS1):c.4459A>G (p.Lys1487Glu)
NM_001378454.1(ALMS1):c.446A>G (p.Asp149Gly) rs1671019702
NM_001378454.1(ALMS1):c.4478G>C (p.Gly1493Ala) rs1347210507
NM_001378454.1(ALMS1):c.4498C>T (p.Leu1500=)
NM_001378454.1(ALMS1):c.4535C>G (p.Thr1512Arg)
NM_001378454.1(ALMS1):c.4546C>A (p.Pro1516Thr)
NM_001378454.1(ALMS1):c.4549A>G (p.Thr1517Ala) rs1572935497
NM_001378454.1(ALMS1):c.4552A>C (p.Ile1518Leu)
NM_001378454.1(ALMS1):c.4554A>G (p.Ile1518Met)
NM_001378454.1(ALMS1):c.4558T>G (p.Ser1520Ala)
NM_001378454.1(ALMS1):c.4565C>G (p.Ser1522Cys) rs1060500036
NM_001378454.1(ALMS1):c.4573_4716del (p.Gln1525_Ser1572del)
NM_001378454.1(ALMS1):c.4574A>C (p.Gln1525Pro)
NM_001378454.1(ALMS1):c.4577A>G (p.His1526Arg) rs1164930753
NM_001378454.1(ALMS1):c.4599C>A (p.Phe1533Leu)
NM_001378454.1(ALMS1):c.4601A>G (p.Tyr1534Cys) rs751003573
NM_001378454.1(ALMS1):c.4606C>G (p.Leu1536Val) rs2103783328
NM_001378454.1(ALMS1):c.4609G>A (p.Ala1537Thr) rs2103783338
NM_001378454.1(ALMS1):c.4624C>G (p.Gln1542Glu) rs1671928724
NM_001378454.1(ALMS1):c.4626A>C (p.Gln1542His) rs201603580
NM_001378454.1(ALMS1):c.4639G>A (p.Ala1547Thr)
NM_001378454.1(ALMS1):c.4642C>T (p.Leu1548Phe) rs2103783451
NM_001378454.1(ALMS1):c.4651T>G (p.Ser1551Ala)
NM_001378454.1(ALMS1):c.4667C>T (p.Pro1556Leu)
NM_001378454.1(ALMS1):c.4678A>G (p.Thr1560Ala) rs1558649606
NM_001378454.1(ALMS1):c.4684G>A (p.Gly1562Ser) rs1671930409
NM_001378454.1(ALMS1):c.46_47insCGG (p.Glu15_Glu16insAla) rs1558624515
NM_001378454.1(ALMS1):c.4700C>A (p.Thr1567Asn)
NM_001378454.1(ALMS1):c.4714T>G (p.Ser1572Ala) rs2103783756
NM_001378454.1(ALMS1):c.4717T>C (p.Phe1573Leu) rs2103783780
NM_001378454.1(ALMS1):c.4720G>A (p.Gly1574Arg)
NM_001378454.1(ALMS1):c.4721G>C (p.Gly1574Ala)
NM_001378454.1(ALMS1):c.472C>T (p.Leu158Phe)
NM_001378454.1(ALMS1):c.4730C>T (p.Pro1577Leu)
NM_001378454.1(ALMS1):c.4733T>C (p.Ile1578Thr) rs2103783837
NM_001378454.1(ALMS1):c.4742A>G (p.Tyr1581Cys)
NM_001378454.1(ALMS1):c.4749G>T (p.Gln1583His) rs749067384
NM_001378454.1(ALMS1):c.4751C>G (p.Ala1584Gly)
NM_001378454.1(ALMS1):c.4756C>T (p.Pro1586Ser) rs768373356
NM_001378454.1(ALMS1):c.4762G>A (p.Gly1588Ser)
NM_001378454.1(ALMS1):c.4763G>T (p.Gly1588Val)
NM_001378454.1(ALMS1):c.4764T>C (p.Gly1588=)
NM_001378454.1(ALMS1):c.4766A>G (p.His1589Arg)
NM_001378454.1(ALMS1):c.4768C>T (p.Leu1590=)
NM_001378454.1(ALMS1):c.4778A>G (p.Glu1593Gly)
NM_001378454.1(ALMS1):c.4805G>A (p.Gly1602Glu)
NM_001378454.1(ALMS1):c.4828A>G (p.Ile1610Val)
NM_001378454.1(ALMS1):c.4831C>G (p.Pro1611Ala) rs935791709
NM_001378454.1(ALMS1):c.4835C>T (p.Ala1612Val)
NM_001378454.1(ALMS1):c.4843T>A (p.Leu1615Ile) rs375736124
NM_001378454.1(ALMS1):c.4843T>G (p.Leu1615Val) rs375736124
NM_001378454.1(ALMS1):c.4846G>A (p.Gly1616Ser)
NM_001378454.1(ALMS1):c.4847G>A (p.Gly1616Asp)
NM_001378454.1(ALMS1):c.4852A>G (p.Ser1618Gly) rs2103784176
NM_001378454.1(ALMS1):c.4864G>C (p.Glu1622Gln)
NM_001378454.1(ALMS1):c.486G>T (p.Met162Ile) rs1671237621
NM_001378454.1(ALMS1):c.4873A>G (p.Ile1625Val)
NM_001378454.1(ALMS1):c.4879T>A (p.Phe1627Ile)
NM_001378454.1(ALMS1):c.4916A>C (p.Lys1639Thr)
NM_001378454.1(ALMS1):c.4922T>A (p.Val1641Asp)
NM_001378454.1(ALMS1):c.4923_4925del (p.Val1642del)
NM_001378454.1(ALMS1):c.4936G>A (p.Ala1646Thr) rs1461831032
NM_001378454.1(ALMS1):c.4939G>T (p.Ala1647Ser) rs1671938334
NM_001378454.1(ALMS1):c.4940C>G (p.Ala1647Gly) rs2103784552
NM_001378454.1(ALMS1):c.4942C>T (p.Pro1648Ser)
NM_001378454.1(ALMS1):c.4947A>G (p.Gly1649=)
NM_001378454.1(ALMS1):c.4952C>T (p.Ala1651Val)
NM_001378454.1(ALMS1):c.496C>G (p.Gln166Glu) rs2103701341
NM_001378454.1(ALMS1):c.4982A>C (p.His1661Pro)
NM_001378454.1(ALMS1):c.4987A>C (p.Thr1663Pro)
NM_001378454.1(ALMS1):c.4999A>T (p.Asn1667Tyr)
NM_001378454.1(ALMS1):c.5001T>C (p.Asn1667=)
NM_001378454.1(ALMS1):c.5002A>G (p.Arg1668Gly) rs2103784813
NM_001378454.1(ALMS1):c.5004G>T (p.Arg1668Ser)
NM_001378454.1(ALMS1):c.5005G>A (p.Gly1669Arg)
NM_001378454.1(ALMS1):c.5027A>G (p.Gln1676Arg)
NM_001378454.1(ALMS1):c.5045G>C (p.Ser1682Thr)
NM_001378454.1(ALMS1):c.5054C>T (p.Pro1685Leu)
NM_001378454.1(ALMS1):c.5056G>A (p.Glu1686Lys)
NM_001378454.1(ALMS1):c.5057A>G (p.Glu1686Gly) rs947249342
NM_001378454.1(ALMS1):c.5075C>T (p.Pro1692Leu)
NM_001378454.1(ALMS1):c.5087G>A (p.Gly1696Glu)
NM_001378454.1(ALMS1):c.5090C>T (p.Pro1697Leu) rs2103785051
NM_001378454.1(ALMS1):c.5095G>A (p.Ala1699Thr) rs1553404004
NM_001378454.1(ALMS1):c.5095G>T (p.Ala1699Ser) rs1553404004
NM_001378454.1(ALMS1):c.50_51insAGAGGA (p.Glu27_Glu28dup) rs1491245339
NM_001378454.1(ALMS1):c.5111C>T (p.Thr1704Ile) rs755683870
NM_001378454.1(ALMS1):c.5114C>T (p.Pro1705Leu)
NM_001378454.1(ALMS1):c.5125T>G (p.Ser1709Ala)
NM_001378454.1(ALMS1):c.5129G>C (p.Ser1710Thr) rs1671942849
NM_001378454.1(ALMS1):c.5140T>G (p.Tyr1714Asp)
NM_001378454.1(ALMS1):c.5164T>C (p.Tyr1722His)
NM_001378454.1(ALMS1):c.5165A>T (p.Tyr1722Phe)
NM_001378454.1(ALMS1):c.5173G>A (p.Ala1725Thr) rs763052163
NM_001378454.1(ALMS1):c.517A>G (p.Thr173Ala)
NM_001378454.1(ALMS1):c.5180C>T (p.Pro1727Leu)
NM_001378454.1(ALMS1):c.5182G>A (p.Asp1728Asn)
NM_001378454.1(ALMS1):c.5186G>T (p.Ser1729Ile) rs2103785437
NM_001378454.1(ALMS1):c.5191C>G (p.Leu1731Val)
NM_001378454.1(ALMS1):c.5197C>G (p.Gln1733Glu)
NM_001378454.1(ALMS1):c.5198AAG[1] (p.Glu1734del) rs1553404031
NM_001378454.1(ALMS1):c.5203G>C (p.Ala1735Pro)
NM_001378454.1(ALMS1):c.5209A>G (p.Lys1737Glu) rs2103785554
NM_001378454.1(ALMS1):c.5216C>T (p.Ser1739Leu)
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu) rs962844498
NM_001378454.1(ALMS1):c.5224C>G (p.Pro1742Ala)
NM_001378454.1(ALMS1):c.5243A>G (p.Lys1748Arg)
NM_001378454.1(ALMS1):c.5251_5391del (p.Leu1751_Gly1797del) rs2103785632
NM_001378454.1(ALMS1):c.5267C>T (p.Ser1756Phe)
NM_001378454.1(ALMS1):c.5273T>C (p.Phe1758Ser)
NM_001378454.1(ALMS1):c.5274C>A (p.Phe1758Leu) rs2103785773
NM_001378454.1(ALMS1):c.5284A>G (p.Thr1762Ala)
NM_001378454.1(ALMS1):c.528T>A (p.Asn176Lys)
NM_001378454.1(ALMS1):c.5294C>G (p.Pro1765Arg) rs1328622266
NM_001378454.1(ALMS1):c.5309A>G (p.Gln1770Arg) rs2103785989
NM_001378454.1(ALMS1):c.5314G>C (p.Glu1772Gln) rs2103786011
NM_001378454.1(ALMS1):c.5320C>T (p.Pro1774Ser) rs2103786033
NM_001378454.1(ALMS1):c.5327G>A (p.Ser1776Asn) rs182614909
NM_001378454.1(ALMS1):c.532A>G (p.Arg178Gly) rs2103701456
NM_001378454.1(ALMS1):c.5330A>G (p.His1777Arg)
NM_001378454.1(ALMS1):c.5345C>T (p.Ala1782Val)
NM_001378454.1(ALMS1):c.5350A>G (p.Lys1784Glu)
NM_001378454.1(ALMS1):c.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.5381A>G (p.Gln1794Arg)
NM_001378454.1(ALMS1):c.5386A>G (p.Thr1796Ala)
NM_001378454.1(ALMS1):c.5390G>C (p.Gly1797Ala) rs1225146552
NM_001378454.1(ALMS1):c.5391_5525del (p.Val1798_Gly1842del)
NM_001378454.1(ALMS1):c.5401G>A (p.Val1801Ile)
NM_001378454.1(ALMS1):c.5402T>C (p.Val1801Ala)
NM_001378454.1(ALMS1):c.5413T>C (p.Ser1805Pro)
NM_001378454.1(ALMS1):c.5414C>T (p.Ser1805Phe) rs2103786414
NM_001378454.1(ALMS1):c.5417A>C (p.Tyr1806Ser)
NM_001378454.1(ALMS1):c.5417A>G (p.Tyr1806Cys) rs374046216
NM_001378454.1(ALMS1):c.5422C>T (p.His1808Tyr) rs1572936601
NM_001378454.1(ALMS1):c.542A>G (p.Asp181Gly)
NM_001378454.1(ALMS1):c.5440G>T (p.Val1814Phe)
NM_001378454.1(ALMS1):c.5441T>C (p.Val1814Ala) rs2103786511
NM_001378454.1(ALMS1):c.5450A>G (p.Gln1817Arg)
NM_001378454.1(ALMS1):c.5453G>A (p.Arg1818Gln) rs200925575
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu) rs200925575
NM_001378454.1(ALMS1):c.5454A>C (p.Arg1818=)
NM_001378454.1(ALMS1):c.5464C>T (p.His1822Tyr)
NM_001378454.1(ALMS1):c.5480G>C (p.Gly1827Ala)
NM_001378454.1(ALMS1):c.5486A>C (p.Lys1829Thr)
NM_001378454.1(ALMS1):c.5488A>G (p.Ile1830Val)
NM_001378454.1(ALMS1):c.5488A>T (p.Ile1830Phe)
NM_001378454.1(ALMS1):c.5510_5512del (p.Ala1837del) rs2103786773
NM_001378454.1(ALMS1):c.5511T>C (p.Ala1837=)
NM_001378454.1(ALMS1):c.5515C>G (p.Gln1839Glu) rs1252756270
NM_001378454.1(ALMS1):c.5533A>G (p.Ile1845Val)
NM_001378454.1(ALMS1):c.5539C>A (p.Pro1847Thr) rs752756030
NM_001378454.1(ALMS1):c.5539C>T (p.Pro1847Ser) rs752756030
NM_001378454.1(ALMS1):c.5566C>T (p.His1856Tyr)
NM_001378454.1(ALMS1):c.5582A>G (p.Tyr1861Cys) rs556743491
NM_001378454.1(ALMS1):c.55G>A (p.Glu19Lys) rs939208094
NM_001378454.1(ALMS1):c.55_56insCGG (p.Glu18_Glu19insAla)
NM_001378454.1(ALMS1):c.5600A>G (p.Asp1867Gly)
NM_001378454.1(ALMS1):c.5612T>G (p.Val1871Gly)
NM_001378454.1(ALMS1):c.5623G>A (p.Ala1875Thr) rs768147561
NM_001378454.1(ALMS1):c.5641C>T (p.Pro1881Ser)
NM_001378454.1(ALMS1):c.5645C>T (p.Ala1882Val)
NM_001378454.1(ALMS1):c.564C>A (p.Pro188=)
NM_001378454.1(ALMS1):c.566C>T (p.Ser189Phe)
NM_001378454.1(ALMS1):c.5681G>T (p.Ser1894Ile)
NM_001378454.1(ALMS1):c.5687A>G (p.Tyr1896Cys)
NM_001378454.1(ALMS1):c.5690C>T (p.Ser1897Leu)
NM_001378454.1(ALMS1):c.5698G>A (p.Glu1900Lys)
NM_001378454.1(ALMS1):c.5704G>A (p.Ala1902Thr) rs1254278225
NM_001378454.1(ALMS1):c.5709T>C (p.Ser1903=)
NM_001378454.1(ALMS1):c.5714T>G (p.Phe1905Cys) rs1553404125
NM_001378454.1(ALMS1):c.5720A>G (p.Gln1907Arg)
NM_001378454.1(ALMS1):c.5732C>T (p.Pro1911Leu) rs1671960359
NM_001378454.1(ALMS1):c.5741C>T (p.Thr1914Ile)
NM_001378454.1(ALMS1):c.574G>A (p.Glu192Lys)
NM_001378454.1(ALMS1):c.5752T>C (p.Leu1918=)
NM_001378454.1(ALMS1):c.5764G>T (p.Val1922Phe)
NM_001378454.1(ALMS1):c.5767G>A (p.Val1923Ile) rs772665115
NM_001378454.1(ALMS1):c.5771C>G (p.Pro1924Arg)
NM_001378454.1(ALMS1):c.5785C>T (p.Arg1929Trp) rs938557636
NM_001378454.1(ALMS1):c.5800C>T (p.Pro1934Ser)
NM_001378454.1(ALMS1):c.5801C>T (p.Pro1934Leu)
NM_001378454.1(ALMS1):c.5806G>A (p.Val1936Ile)
NM_001378454.1(ALMS1):c.5809C>G (p.Pro1937Ala)
NM_001378454.1(ALMS1):c.5814A>C (p.Leu1938Phe) rs1432463036
NM_001378454.1(ALMS1):c.5815A>G (p.Ser1939Gly)
NM_001378454.1(ALMS1):c.5818T>G (p.Tyr1940Asp)
NM_001378454.1(ALMS1):c.5819A>C (p.Tyr1940Ser)
NM_001378454.1(ALMS1):c.5822A>G (p.Tyr1941Cys) rs374676136
NM_001378454.1(ALMS1):c.5827C>A (p.Arg1943Ser) rs370398704
NM_001378454.1(ALMS1):c.5828G>T (p.Arg1943Leu) rs146669152
NM_001378454.1(ALMS1):c.5830A>G (p.Arg1944Gly)
NM_001378454.1(ALMS1):c.5831G>A (p.Arg1944Lys) rs2103787852
NM_001378454.1(ALMS1):c.5843G>T (p.Ser1948Ile) rs1300252739
NM_001378454.1(ALMS1):c.5848A>G (p.Ile1950Val) rs140062566
NM_001378454.1(ALMS1):c.5867C>A (p.Pro1956Gln) rs1671963819
NM_001378454.1(ALMS1):c.5870A>G (p.Asp1957Gly) rs1464393698
NM_001378454.1(ALMS1):c.5877T>A (p.His1959Gln)
NM_001378454.1(ALMS1):c.5881A>T (p.Thr1961Ser) rs1249655262
NM_001378454.1(ALMS1):c.5894T>G (p.Leu1965Arg)
NM_001378454.1(ALMS1):c.58G>A (p.Glu20Lys)
NM_001378454.1(ALMS1):c.5904_5912del (p.Pro1969_Ser1971del) rs1060500042
NM_001378454.1(ALMS1):c.5917C>T (p.Pro1973Ser)
NM_001378454.1(ALMS1):c.591A>C (p.Gln197His)
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.5952_5954del (p.Ser1987del)
NM_001378454.1(ALMS1):c.5956_5957delinsGT (p.Ser1986Val) rs2103788302
NM_001378454.1(ALMS1):c.5963A>G (p.Tyr1988Cys) rs757977017
NM_001378454.1(ALMS1):c.5968C>T (p.His1990Tyr)
NM_001378454.1(ALMS1):c.596A>G (p.Glu199Gly) rs1553399974
NM_001378454.1(ALMS1):c.5976T>G (p.His1992Gln) rs2103788393
NM_001378454.1(ALMS1):c.6004_6090dup (p.His2002_Val2030dup) rs2103788416
NM_001378454.1(ALMS1):c.6008T>C (p.Ile2003Thr)
NM_001378454.1(ALMS1):c.6009A>G (p.Ile2003Met)
NM_001378454.1(ALMS1):c.6016G>A (p.Asp2006Asn) rs1671968768
NM_001378454.1(ALMS1):c.6024A>C (p.Lys2008Asn) rs1671969063
NM_001378454.1(ALMS1):c.6025A>T (p.Thr2009Ser) rs2103788606
NM_001378454.1(ALMS1):c.6035C>G (p.Pro2012Arg) rs750993966
NM_001378454.1(ALMS1):c.6035C>T (p.Pro2012Leu)
NM_001378454.1(ALMS1):c.6041C>T (p.Ala2014Val)
NM_001378454.1(ALMS1):c.6056A>G (p.Tyr2019Cys)
NM_001378454.1(ALMS1):c.6066A>G (p.Ile2022Met) rs780333829
NM_001378454.1(ALMS1):c.6085A>T (p.Thr2029Ser) rs759478895
NM_001378454.1(ALMS1):c.608A>G (p.Lys203Arg)
NM_001378454.1(ALMS1):c.6093T>G (p.Ile2031Met) rs2103788896
NM_001378454.1(ALMS1):c.6094G>A (p.Gly2032Arg) rs1671971419
NM_001378454.1(ALMS1):c.60_61insAAGGAG (p.Glu20_Glu21insLysGlu) rs2104057268
NM_001378454.1(ALMS1):c.60_61insCAG (p.Glu20_Glu21insGln) rs1553396137
NM_001378454.1(ALMS1):c.6100A>G (p.Asn2034Asp) rs1206923047
NM_001378454.1(ALMS1):c.6107A>G (p.Gln2036Arg)
NM_001378454.1(ALMS1):c.6111G>T (p.Lys2037Asn)
NM_001378454.1(ALMS1):c.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.6151A>G (p.Thr2051Ala) rs2103789073
NM_001378454.1(ALMS1):c.6152C>T (p.Thr2051Ile)
NM_001378454.1(ALMS1):c.6158A>T (p.Lys2053Met)
NM_001378454.1(ALMS1):c.6161C>G (p.Pro2054Arg)
NM_001378454.1(ALMS1):c.6164A>G (p.Asn2055Ser)
NM_001378454.1(ALMS1):c.6164A>T (p.Asn2055Ile) rs772187394
NM_001378454.1(ALMS1):c.6168T>G (p.Ile2056Met) rs775610057
NM_001378454.1(ALMS1):c.6171A>T (p.Leu2057Phe) rs2103789184
NM_001378454.1(ALMS1):c.6182A>T (p.Gln2061Leu)
NM_001378454.1(ALMS1):c.6183G>T (p.Gln2061His)
NM_001378454.1(ALMS1):c.6192T>A (p.Asp2064Glu)
NM_001378454.1(ALMS1):c.6194G>A (p.Arg2065Lys) rs2103789247
NM_001378454.1(ALMS1):c.6209G>T (p.Gly2070Val)
NM_001378454.1(ALMS1):c.6211A>G (p.Ile2071Val) rs1020163869
NM_001378454.1(ALMS1):c.6215T>C (p.Leu2072Pro) rs1382952433
NM_001378454.1(ALMS1):c.6221T>G (p.Ile2074Ser)
NM_001378454.1(ALMS1):c.6226G>T (p.Ala2076Ser)
NM_001378454.1(ALMS1):c.6229G>C (p.Val2077Leu) rs779402813
NM_001378454.1(ALMS1):c.6232C>T (p.Pro2078Ser) rs1050140750
NM_001378454.1(ALMS1):c.6235G>A (p.Glu2079Lys) rs758696535
NM_001378454.1(ALMS1):c.6238C>G (p.Leu2080Val)
NM_001378454.1(ALMS1):c.624T>A (p.Asp208Glu) rs1671241779
NM_001378454.1(ALMS1):c.6254C>T (p.Thr2085Ile) rs1266867585
NM_001378454.1(ALMS1):c.6275C>G (p.Ser2092Cys) rs749180234
NM_001378454.1(ALMS1):c.6277A>G (p.Ser2093Gly) rs2103789537
NM_001378454.1(ALMS1):c.6292A>G (p.Arg2098Gly)
NM_001378454.1(ALMS1):c.6296_6301del (p.Glu2099_Ser2101delinsAla)
NM_001378454.1(ALMS1):c.6317C>T (p.Pro2106Leu)
NM_001378454.1(ALMS1):c.6320A>G (p.Gln2107Arg)
NM_001378454.1(ALMS1):c.6323A>G (p.Glu2108Gly)
NM_001378454.1(ALMS1):c.6328C>T (p.Pro2110Ser) rs1243321319
NM_001378454.1(ALMS1):c.632G>C (p.Cys211Ser)
NM_001378454.1(ALMS1):c.635C>T (p.Ser212Phe) rs2103701987
NM_001378454.1(ALMS1):c.6361G>T (p.Val2121Phe)
NM_001378454.1(ALMS1):c.6380C>T (p.Pro2127Leu) rs2103789910
NM_001378454.1(ALMS1):c.6397G>T (p.Val2133Leu)
NM_001378454.1(ALMS1):c.6406_6408dup (p.Thr2136_Ala2137insThr)
NM_001378454.1(ALMS1):c.6409G>C (p.Ala2137Pro) rs2103789992
NM_001378454.1(ALMS1):c.6419G>C (p.Ser2140Thr) rs1671979572
NM_001378454.1(ALMS1):c.6422C>T (p.Ser2141Phe)
NM_001378454.1(ALMS1):c.6433C>G (p.Arg2145Gly)
NM_001378454.1(ALMS1):c.6448A>G (p.Ile2150Val)
NM_001378454.1(ALMS1):c.6455A>G (p.Tyr2152Cys)
NM_001378454.1(ALMS1):c.6455A>T (p.Tyr2152Phe)
NM_001378454.1(ALMS1):c.645A>G (p.Leu215=)
NM_001378454.1(ALMS1):c.646+3A>G rs1553399994
NM_001378454.1(ALMS1):c.647-3C>T rs1671310064
NM_001378454.1(ALMS1):c.6472G>A (p.Asp2158Asn) rs545636120
NM_001378454.1(ALMS1):c.6479A>G (p.His2160Arg) rs781245006
NM_001378454.1(ALMS1):c.64_65insTGG (p.Glu21_Glu22insVal) rs1553396144
NM_001378454.1(ALMS1):c.6502A>G (p.Ile2168Val)
NM_001378454.1(ALMS1):c.650T>C (p.Ile217Thr)
NM_001378454.1(ALMS1):c.6514C>T (p.Leu2172Phe)
NM_001378454.1(ALMS1):c.6524C>T (p.Ala2175Val) rs549259627
NM_001378454.1(ALMS1):c.6535A>G (p.Thr2179Ala) rs907136479
NM_001378454.1(ALMS1):c.6538G>C (p.Gly2180Arg) rs145953016
NM_001378454.1(ALMS1):c.653A>G (p.Gln218Arg)
NM_001378454.1(ALMS1):c.6550G>A (p.Val2184Ile)
NM_001378454.1(ALMS1):c.6566A>G (p.Tyr2189Cys)
NM_001378454.1(ALMS1):c.6572A>G (p.His2191Arg)
NM_001378454.1(ALMS1):c.6587A>G (p.Lys2196Arg) rs2103790737
NM_001378454.1(ALMS1):c.658A>G (p.Ser220Gly) rs2103710382
NM_001378454.1(ALMS1):c.6590T>G (p.Leu2197Arg) rs2103790750
NM_001378454.1(ALMS1):c.659G>A (p.Ser220Asn) rs2103710395
NM_001378454.1(ALMS1):c.6612G>C (p.Arg2204Ser) rs758379924
NM_001378454.1(ALMS1):c.6612G>T (p.Arg2204Ser)
NM_001378454.1(ALMS1):c.6615A>C (p.Leu2205=)
NM_001378454.1(ALMS1):c.6617T>G (p.Ile2206Arg) rs1671985244
NM_001378454.1(ALMS1):c.6627G>C (p.Leu2209Phe)
NM_001378454.1(ALMS1):c.6632C>A (p.Ser2211Tyr) rs1357695377
NM_001378454.1(ALMS1):c.6637G>C (p.Asp2213His)
NM_001378454.1(ALMS1):c.6649A>G (p.Ser2217Gly)
NM_001378454.1(ALMS1):c.665C>T (p.Ala222Val)
NM_001378454.1(ALMS1):c.6668T>C (p.Leu2223Ser)
NM_001378454.1(ALMS1):c.6679G>A (p.Ala2227Thr)
NM_001378454.1(ALMS1):c.6679G>C (p.Ala2227Pro) rs1671986679
NM_001378454.1(ALMS1):c.6688A>G (p.Arg2230Gly)
NM_001378454.1(ALMS1):c.6689G>C (p.Arg2230Thr) rs1671986841
NM_001378454.1(ALMS1):c.66_67insAAG (p.Glu22_Glu23insLys)
NM_001378454.1(ALMS1):c.66_67insAAGGAG (p.Glu22_Glu23insLysGlu) rs1553396142
NM_001378454.1(ALMS1):c.6706C>T (p.Pro2236Ser) rs200724860
NM_001378454.1(ALMS1):c.6716C>T (p.Ala2239Val)
NM_001378454.1(ALMS1):c.6717A>G (p.Ala2239=)
NM_001378454.1(ALMS1):c.6729T>A (p.Asp2243Glu)
NM_001378454.1(ALMS1):c.6731T>C (p.Val2244Ala) rs1671987655
NM_001378454.1(ALMS1):c.6745A>T (p.Ile2249Phe) rs946232848
NM_001378454.1(ALMS1):c.6766G>C (p.Ala2256Pro)
NM_001378454.1(ALMS1):c.6770A>G (p.Lys2257Arg)
NM_001378454.1(ALMS1):c.6775C>G (p.Leu2259Val) rs748833907
NM_001378454.1(ALMS1):c.6787C>T (p.Arg2263Trp)
NM_001378454.1(ALMS1):c.6788G>A (p.Arg2263Gln)
NM_001378454.1(ALMS1):c.6799A>T (p.Met2267Leu)
NM_001378454.1(ALMS1):c.6803A>G (p.Glu2268Gly)
NM_001378454.1(ALMS1):c.6811A>G (p.Asn2271Asp) rs1558651314
NM_001378454.1(ALMS1):c.6816G>T (p.Met2272Ile) rs765233946
NM_001378454.1(ALMS1):c.6829T>C (p.Cys2277Arg) rs1671989930
NM_001378454.1(ALMS1):c.6831C>G (p.Cys2277Trp) rs761713440
NM_001378454.1(ALMS1):c.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.688A>G (p.Thr230Ala) rs2103710477
NM_001378454.1(ALMS1):c.6899T>C (p.Val2300Ala) rs1057523384
NM_001378454.1(ALMS1):c.68_69insAGA (p.Glu28_Ala29insGlu)
NM_001378454.1(ALMS1):c.68_69insAGAGGAGGAGGA (p.Glu25_Glu28dup) rs2104057317
NM_001378454.1(ALMS1):c.68_69insAGAGGAGGAGGAGGAGGAGGA (p.Glu28_Ala29insGluGluGluGluGluGluGlu)
NM_001378454.1(ALMS1):c.6901G>A (p.Val2301Ile) rs1671992482
NM_001378454.1(ALMS1):c.6916C>T (p.Pro2306Ser)
NM_001378454.1(ALMS1):c.6917C>G (p.Pro2306Arg)
NM_001378454.1(ALMS1):c.6923C>A (p.Ser2308Tyr)
NM_001378454.1(ALMS1):c.6944A>T (p.Asp2315Val) rs2103792016
NM_001378454.1(ALMS1):c.6948G>T (p.Leu2316Phe)
NM_001378454.1(ALMS1):c.6968C>T (p.Thr2323Ile) rs1671994565
NM_001378454.1(ALMS1):c.6971A>G (p.Glu2324Gly)
NM_001378454.1(ALMS1):c.69_70insAAG (p.Glu23_Glu24insLys) rs1006328829
NM_001378454.1(ALMS1):c.7000A>G (p.Lys2334Glu)
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.7019C>T (p.Thr2340Met)
NM_001378454.1(ALMS1):c.7084C>T (p.Pro2362Ser) rs2103792526
NM_001378454.1(ALMS1):c.7087C>G (p.Leu2363Val)
NM_001378454.1(ALMS1):c.7093G>A (p.Glu2365Lys) rs1572938591
NM_001378454.1(ALMS1):c.70_71insCGG (p.Glu23_Glu24insAla) rs1442274468
NM_001378454.1(ALMS1):c.7103G>A (p.Ser2368Asn) rs781640600
NM_001378454.1(ALMS1):c.7105A>G (p.Lys2369Glu) rs2103792593
NM_001378454.1(ALMS1):c.710A>G (p.Glu237Gly) rs2103710589
NM_001378454.1(ALMS1):c.7111A>C (p.Ser2371Arg) rs2103792619
NM_001378454.1(ALMS1):c.7145A>G (p.Gln2382Arg)
NM_001378454.1(ALMS1):c.7160_7161delinsGT (p.Val2387Gly) rs2103792865
NM_001378454.1(ALMS1):c.7167G>T (p.Arg2389Ser) rs1553404408
NM_001378454.1(ALMS1):c.7175C>T (p.Pro2392Leu) rs1384040049
NM_001378454.1(ALMS1):c.7184G>A (p.Cys2395Tyr)
NM_001378454.1(ALMS1):c.718C>T (p.Pro240Ser)
NM_001378454.1(ALMS1):c.7193C>A (p.Thr2398Asn) rs200470452
NM_001378454.1(ALMS1):c.7193C>T (p.Thr2398Ile) rs200470452
NM_001378454.1(ALMS1):c.719C>T (p.Pro240Leu)
NM_001378454.1(ALMS1):c.71_72insAGA (p.Glu28dup) rs2104057693
NM_001378454.1(ALMS1):c.7209TAT[1] (p.Ile2405del)
NM_001378454.1(ALMS1):c.7219A>G (p.Met2407Val) rs1198704030
NM_001378454.1(ALMS1):c.7227T>A (p.Thr2409=) rs768032353
NM_001378454.1(ALMS1):c.7246A>G (p.Ser2416Gly)
NM_001378454.1(ALMS1):c.7250G>C (p.Ser2417Thr)
NM_001378454.1(ALMS1):c.7250G>T (p.Ser2417Ile)
NM_001378454.1(ALMS1):c.7256C>T (p.Ala2419Val) rs1672001133
NM_001378454.1(ALMS1):c.725C>A (p.Ser242Tyr)
NM_001378454.1(ALMS1):c.725C>G (p.Ser242Cys)
NM_001378454.1(ALMS1):c.7277G>T (p.Cys2426Phe) rs35649068
NM_001378454.1(ALMS1):c.7280C>T (p.Ser2427Leu)
NM_001378454.1(ALMS1):c.7288A>G (p.Ser2430Gly) rs539112266
NM_001378454.1(ALMS1):c.728T>C (p.Leu243Ser) rs2103710678
NM_001378454.1(ALMS1):c.7298C>G (p.Pro2433Arg) rs2103793431
NM_001378454.1(ALMS1):c.7310A>T (p.Glu2437Val)
NM_001378454.1(ALMS1):c.7315G>C (p.Val2439Leu)
NM_001378454.1(ALMS1):c.7332_7333insGGA (p.Leu2444_Asn2445insGly) rs2103793539
NM_001378454.1(ALMS1):c.7346A>G (p.Tyr2449Cys) rs766767334
NM_001378454.1(ALMS1):c.7361C>T (p.Thr2454Ile)
NM_001378454.1(ALMS1):c.7370C>T (p.Thr2457Ile)
NM_001378454.1(ALMS1):c.7375A>G (p.Ser2459Gly)
NM_001378454.1(ALMS1):c.7377C>T (p.Ser2459=) rs867561704
NM_001378454.1(ALMS1):c.737A>C (p.Gln246Pro) rs779584471
NM_001378454.1(ALMS1):c.7381G>C (p.Glu2461Gln)
NM_001378454.1(ALMS1):c.7388A>G (p.Glu2463Gly)
NM_001378454.1(ALMS1):c.7391G>A (p.Gly2464Asp) rs779815578
NM_001378454.1(ALMS1):c.7406A>G (p.Glu2469Gly)
NM_001378454.1(ALMS1):c.7407G>T (p.Glu2469Asp)
NM_001378454.1(ALMS1):c.7412G>T (p.Gly2471Val) rs1672005992
NM_001378454.1(ALMS1):c.7418G>A (p.Gly2473Asp) rs1348368424
NM_001378454.1(ALMS1):c.7423A>G (p.Ser2475Gly) rs2103793967
NM_001378454.1(ALMS1):c.7430A>G (p.Asp2477Gly)
NM_001378454.1(ALMS1):c.7432T>G (p.Ser2478Ala) rs1672006362
NM_001378454.1(ALMS1):c.7439C>T (p.Ala2480Val) rs2103793995
NM_001378454.1(ALMS1):c.7444C>A (p.His2482Asn)
NM_001378454.1(ALMS1):c.7448T>A (p.Val2483Glu)
NM_001378454.1(ALMS1):c.7455C>A (p.Asn2485Lys) rs988216695
NM_001378454.1(ALMS1):c.7457T>C (p.Leu2486Pro)
NM_001378454.1(ALMS1):c.7463A>T (p.Gln2488Leu)
NM_001378454.1(ALMS1):c.7470A>C (p.Glu2490Asp) rs1180605370
NM_001378454.1(ALMS1):c.7492G>C (p.Glu2498Gln)
NM_001378454.1(ALMS1):c.749G>C (p.Ser250Thr) rs2103710757
NM_001378454.1(ALMS1):c.74_75insGGAAGA (p.Glu27_Glu28dup) rs1491479006
NM_001378454.1(ALMS1):c.74_75insGGAAGAGGAGGAGGAGGA (p.Glu23_Glu28dup) rs1182322031
NM_001378454.1(ALMS1):c.74_75insGGAAGAGGAGGAGGAGGAGGA (p.Glu22_Glu28dup) rs2104057327
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAAGA (p.Glu28_Ala29insGluGluGluGluGlu)
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAAGAGGAGGAGGAGGAGGA (p.Glu19_Glu28dup) rs2104057327
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGA (p.Glu18_Glu28dup) rs2104057327
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGA (p.Glu28_Ala29insGluGluGluGluGluGluGluGluGluGluGluGluGlu)
NM_001378454.1(ALMS1):c.7507G>A (p.Ala2503Thr) rs202060439
NM_001378454.1(ALMS1):c.7507G>T (p.Ala2503Ser) rs202060439
NM_001378454.1(ALMS1):c.7532G>A (p.Arg2511Gln)
NM_001378454.1(ALMS1):c.7539_7540insAAT (p.His2513_Ala2514insAsn) rs757932553
NM_001378454.1(ALMS1):c.7540+3A>G
NM_001378454.1(ALMS1):c.7540+9A>T
NM_001378454.1(ALMS1):c.7541-11T>C
NM_001378454.1(ALMS1):c.7547A>G (p.Asn2516Ser)
NM_001378454.1(ALMS1):c.7553A>G (p.Lys2518Arg)
NM_001378454.1(ALMS1):c.755C>T (p.Ala252Val) rs2103710779
NM_001378454.1(ALMS1):c.7562T>C (p.Leu2521Ser)
NM_001378454.1(ALMS1):c.7564G>A (p.Ala2522Thr) rs2103797392
NM_001378454.1(ALMS1):c.7590A>G (p.Ser2530=)
NM_001378454.1(ALMS1):c.7598A>G (p.Asn2533Ser)
NM_001378454.1(ALMS1):c.7599T>G (p.Asn2533Lys)
NM_001378454.1(ALMS1):c.75_77del (p.Glu28del) rs1553396161
NM_001378454.1(ALMS1):c.75_80dup (p.Glu27_Glu28dup) rs754175473
NM_001378454.1(ALMS1):c.7600G>A (p.Glu2534Lys)
NM_001378454.1(ALMS1):c.7604A>T (p.Asp2535Val)
NM_001378454.1(ALMS1):c.7629C>G (p.Ile2543Met)
NM_001378454.1(ALMS1):c.762G>A (p.Leu254=)
NM_001378454.1(ALMS1):c.7639T>C (p.Leu2547=)
NM_001378454.1(ALMS1):c.7639T>G (p.Leu2547Val) rs200155429
NM_001378454.1(ALMS1):c.7641A>G (p.Leu2547=)
NM_001378454.1(ALMS1):c.7642T>C (p.Phe2548Leu)
NM_001378454.1(ALMS1):c.7652G>A (p.Gly2551Glu)
NM_001378454.1(ALMS1):c.7658C>T (p.Thr2553Ile)
NM_001378454.1(ALMS1):c.7660A>G (p.Thr2554Ala)
NM_001378454.1(ALMS1):c.7670C>T (p.Ser2557Phe) rs878855001
NM_001378454.1(ALMS1):c.7674+16G>A
NM_001378454.1(ALMS1):c.7676G>T (p.Gly2559Val)
NM_001378454.1(ALMS1):c.7682A>G (p.Gln2561Arg)
NM_001378454.1(ALMS1):c.7682A>T (p.Gln2561Leu)
NM_001378454.1(ALMS1):c.7684A>C (p.Ser2562Arg) rs772417159
NM_001378454.1(ALMS1):c.7684A>G (p.Ser2562Gly)
NM_001378454.1(ALMS1):c.7685G>A (p.Ser2562Asn) rs1672930739
NM_001378454.1(ALMS1):c.7688C>G (p.Pro2563Arg)
NM_001378454.1(ALMS1):c.7688C>T (p.Pro2563Leu)
NM_001378454.1(ALMS1):c.7690C>G (p.Arg2564Gly) rs554047243
NM_001378454.1(ALMS1):c.7690C>T (p.Arg2564Trp)
NM_001378454.1(ALMS1):c.7691G>A (p.Arg2564Gln)
NM_001378454.1(ALMS1):c.76G>C (p.Glu26Gln)
NM_001378454.1(ALMS1):c.7709C>G (p.Pro2570Arg)
NM_001378454.1(ALMS1):c.770T>A (p.Ile257Asn)
NM_001378454.1(ALMS1):c.7724G>C (p.Ser2575Thr)
NM_001378454.1(ALMS1):c.7729A>G (p.Ile2577Val)
NM_001378454.1(ALMS1):c.7732A>G (p.Ile2578Val)
NM_001378454.1(ALMS1):c.7735A>T (p.Ile2579Phe)
NM_001378454.1(ALMS1):c.7736T>C (p.Ile2579Thr)
NM_001378454.1(ALMS1):c.7738G>A (p.Glu2580Lys)
NM_001378454.1(ALMS1):c.7739A>G (p.Glu2580Gly) rs2103889306
NM_001378454.1(ALMS1):c.7740G>C (p.Glu2580Asp) rs543921060
NM_001378454.1(ALMS1):c.7742G>A (p.Ser2581Asn)
NM_001378454.1(ALMS1):c.7743C>A (p.Ser2581Arg) rs370740871
NM_001378454.1(ALMS1):c.7744C>T (p.His2582Tyr) rs2103889340
NM_001378454.1(ALMS1):c.7750A>G (p.Lys2584Glu) rs776783409
NM_001378454.1(ALMS1):c.7752G>C (p.Lys2584Asn)
NM_001378454.1(ALMS1):c.775G>C (p.Asp259His)
NM_001378454.1(ALMS1):c.7762C>T (p.Arg2588Trp)
NM_001378454.1(ALMS1):c.7763G>A (p.Arg2588Gln)
NM_001378454.1(ALMS1):c.7772C>G (p.Thr2591Ser) rs2103889489
NM_001378454.1(ALMS1):c.7792G>T (p.Asp2598Tyr)
NM_001378454.1(ALMS1):c.77A>C (p.Glu26Ala)
NM_001378454.1(ALMS1):c.7801C>T (p.Pro2601Ser) rs1553409608
NM_001378454.1(ALMS1):c.7802C>A (p.Pro2601His) rs2103889598
NM_001378454.1(ALMS1):c.7810T>G (p.Phe2604Val) rs1220754616
NM_001378454.1(ALMS1):c.7811T>C (p.Phe2604Ser) rs1672935406
NM_001378454.1(ALMS1):c.7825C>A (p.Pro2609Thr) rs2103889689
NM_001378454.1(ALMS1):c.782C>G (p.Ser261Cys) rs1671339296
NM_001378454.1(ALMS1):c.7836G>A (p.Met2612Ile)
NM_001378454.1(ALMS1):c.7844G>A (p.Gly2615Glu)
NM_001378454.1(ALMS1):c.7847G>A (p.Arg2616Gln)
NM_001378454.1(ALMS1):c.7854C>G (p.Asn2618Lys)
NM_001378454.1(ALMS1):c.7856C>G (p.Pro2619Arg) rs1672936863
NM_001378454.1(ALMS1):c.786_788dup (p.Glu262_Asp263insGlu)
NM_001378454.1(ALMS1):c.7870G>A (p.Ala2624Thr)
NM_001378454.1(ALMS1):c.7870G>C (p.Ala2624Pro)
NM_001378454.1(ALMS1):c.7878T>A (p.His2626Gln) rs940478567
NM_001378454.1(ALMS1):c.7888T>G (p.Ser2630Ala) rs1672937962
NM_001378454.1(ALMS1):c.7898T>C (p.Leu2633Ser) rs2103889971
NM_001378454.1(ALMS1):c.7901A>G (p.Asp2634Gly) rs1368206928
NM_001378454.1(ALMS1):c.7904A>G (p.Gln2635Arg)
NM_001378454.1(ALMS1):c.7913C>A (p.Ser2638Tyr)
NM_001378454.1(ALMS1):c.7927T>C (p.Trp2643Arg)
NM_001378454.1(ALMS1):c.793G>A (p.Glu265Lys)
NM_001378454.1(ALMS1):c.7940A>G (p.Gln2647Arg) rs2103890068
NM_001378454.1(ALMS1):c.7948A>C (p.Ser2650Arg) rs567474729
NM_001378454.1(ALMS1):c.7957C>G (p.Pro2653Ala)
NM_001378454.1(ALMS1):c.7964A>G (p.Gln2655Arg)
NM_001378454.1(ALMS1):c.7969T>C (p.Phe2657Leu)
NM_001378454.1(ALMS1):c.7975C>T (p.Pro2659Ser)
NM_001378454.1(ALMS1):c.7981G>A (p.Glu2661Lys) rs762452929
NM_001378454.1(ALMS1):c.7994G>C (p.Ser2665Thr) rs1672940448
NM_001378454.1(ALMS1):c.7997A>C (p.Lys2666Thr) rs2103890229
NM_001378454.1(ALMS1):c.7999G>C (p.Gly2667Arg)
NM_001378454.1(ALMS1):c.7C>T (p.Pro3Ser)
NM_001378454.1(ALMS1):c.8002C>T (p.Leu2668Phe)
NM_001378454.1(ALMS1):c.8017_8018delinsCC (p.Asp2673Pro) rs2103890304
NM_001378454.1(ALMS1):c.8018A>G (p.Asp2673Gly)
NM_001378454.1(ALMS1):c.8019T>A (p.Asp2673Glu)
NM_001378454.1(ALMS1):c.8021A>G (p.Glu2674Gly)
NM_001378454.1(ALMS1):c.8025G>C (p.Lys2675Asn) rs2103890339
NM_001378454.1(ALMS1):c.8026A>T (p.Met2676Leu)
NM_001378454.1(ALMS1):c.8028G>A (p.Met2676Ile)
NM_001378454.1(ALMS1):c.802T>C (p.Ser268Pro) rs2103714536
NM_001378454.1(ALMS1):c.8044G>C (p.Glu2682Gln)
NM_001378454.1(ALMS1):c.8057C>T (p.Pro2686Leu) rs1269143077
NM_001378454.1(ALMS1):c.8068C>G (p.Pro2690Ala)
NM_001378454.1(ALMS1):c.8075AAG[1] (p.Glu2693del) rs1553409676
NM_001378454.1(ALMS1):c.8089C>T (p.His2697Tyr) rs956487104
NM_001378454.1(ALMS1):c.812C>T (p.Ser271Leu)
NM_001378454.1(ALMS1):c.8135C>T (p.Thr2712Ile)
NM_001378454.1(ALMS1):c.8143A>G (p.Ile2715Val)
NM_001378454.1(ALMS1):c.8146A>C (p.Thr2716Pro) rs1234404032
NM_001378454.1(ALMS1):c.8150T>G (p.Phe2717Cys)
NM_001378454.1(ALMS1):c.8152T>C (p.Ser2718Pro)
NM_001378454.1(ALMS1):c.8156C>G (p.Ser2719Cys) rs1572969357
NM_001378454.1(ALMS1):c.8167T>A (p.Ser2723Thr)
NM_001378454.1(ALMS1):c.816A>G (p.Glu272=)
NM_001378454.1(ALMS1):c.8203G>C (p.Gly2735Arg) rs761136859
NM_001378454.1(ALMS1):c.820A>T (p.Ser274Cys)
NM_001378454.1(ALMS1):c.8215G>A (p.Gly2739Ser)
NM_001378454.1(ALMS1):c.8218A>G (p.Ser2740Gly)
NM_001378454.1(ALMS1):c.8220C>A (p.Ser2740Arg) rs920410396
NM_001378454.1(ALMS1):c.8223G>T (p.Gln2741His)
NM_001378454.1(ALMS1):c.8225G>C (p.Cys2742Ser)
NM_001378454.1(ALMS1):c.8242G>C (p.Gly2748Arg)
NM_001378454.1(ALMS1):c.8245G>A (p.Val2749Ile)
NM_001378454.1(ALMS1):c.8246T>C (p.Val2749Ala) rs2103891180
NM_001378454.1(ALMS1):c.8252A>G (p.Asn2751Ser)
NM_001378454.1(ALMS1):c.8254T>A (p.Ser2752Thr)
NM_001378454.1(ALMS1):c.8258A>G (p.His2753Arg)
NM_001378454.1(ALMS1):c.8260T>A (p.Phe2754Ile)
NM_001378454.1(ALMS1):c.8266G>A (p.Glu2756Lys)
NM_001378454.1(ALMS1):c.8267A>G (p.Glu2756Gly)
NM_001378454.1(ALMS1):c.8272C>A (p.Gln2758Lys) rs756042345
NM_001378454.1(ALMS1):c.8275A>T (p.Asn2759Tyr)
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala) rs369650940
NM_001378454.1(ALMS1):c.8281C>T (p.Pro2761Ser)
NM_001378454.1(ALMS1):c.8290C>T (p.Leu2764Phe) rs2103891331
NM_001378454.1(ALMS1):c.8296C>G (p.Gln2766Glu)
NM_001378454.1(ALMS1):c.8299A>G (p.Lys2767Glu)
NM_001378454.1(ALMS1):c.82G>A (p.Glu28Lys) rs1670512542
NM_001378454.1(ALMS1):c.8306C>T (p.Ser2769Phe) rs1060500037
NM_001378454.1(ALMS1):c.8311C>A (p.Pro2771Thr) rs1245686264
NM_001378454.1(ALMS1):c.8315CAT[1] (p.Ser2773del) rs770459045
NM_001378454.1(ALMS1):c.8323A>G (p.Lys2775Glu) rs1572969570
NM_001378454.1(ALMS1):c.8324A>G (p.Lys2775Arg)
NM_001378454.1(ALMS1):c.8328G>A (p.Met2776Ile)
NM_001378454.1(ALMS1):c.8335A>G (p.Asn2779Asp) rs1672950651
NM_001378454.1(ALMS1):c.8345A>G (p.Asp2782Gly) rs1672950843
NM_001378454.1(ALMS1):c.8350G>C (p.Glu2784Gln)
NM_001378454.1(ALMS1):c.8375G>A (p.Arg2792Lys)
NM_001378454.1(ALMS1):c.837G>T (p.Gln279His)
NM_001378454.1(ALMS1):c.8387A>G (p.Gln2796Arg)
NM_001378454.1(ALMS1):c.8388A>T (p.Gln2796His) rs770409935
NM_001378454.1(ALMS1):c.8396C>G (p.Pro2799Arg)
NM_001378454.1(ALMS1):c.8413T>C (p.Ser2805Pro)
NM_001378454.1(ALMS1):c.8419C>A (p.Gln2807Lys) rs1314753569
NM_001378454.1(ALMS1):c.8426A>C (p.Glu2809Ala)
NM_001378454.1(ALMS1):c.8432C>G (p.Pro2811Arg)
NM_001378454.1(ALMS1):c.8446G>T (p.Asp2816Tyr)
NM_001378454.1(ALMS1):c.8462A>T (p.His2821Leu)
NM_001378454.1(ALMS1):c.847G>A (p.Glu283Lys) rs780066739
NM_001378454.1(ALMS1):c.8484A>C (p.Ala2828=)
NM_001378454.1(ALMS1):c.8485A>T (p.Asn2829Tyr)
NM_001378454.1(ALMS1):c.8491A>C (p.Ser2831Arg)
NM_001378454.1(ALMS1):c.8495A>C (p.Asn2832Thr)
NM_001378454.1(ALMS1):c.8495A>G (p.Asn2832Ser) rs2103892060
NM_001378454.1(ALMS1):c.8496T>A (p.Asn2832Lys)
NM_001378454.1(ALMS1):c.8501A>G (p.Lys2834Arg) rs1672955488
NM_001378454.1(ALMS1):c.850G>A (p.Val284Ile)
NM_001378454.1(ALMS1):c.8512A>G (p.Ile2838Val)
NM_001378454.1(ALMS1):c.8539A>G (p.Met2847Val)
NM_001378454.1(ALMS1):c.8543G>A (p.Gly2848Asp)
NM_001378454.1(ALMS1):c.8544C>A (p.Gly2848=)
NM_001378454.1(ALMS1):c.8549C>T (p.Pro2850Leu)
NM_001378454.1(ALMS1):c.8555C>G (p.Ser2852Cys) rs2103892251
NM_001378454.1(ALMS1):c.8560_8580del (p.Leu2854_Ser2860del) rs2103892286
NM_001378454.1(ALMS1):c.8564_8565delinsAG (p.Gly2855Glu)
NM_001378454.1(ALMS1):c.8574A>C (p.Arg2858Ser) rs1489673662
NM_001378454.1(ALMS1):c.8576C>T (p.Ser2859Leu)
NM_001378454.1(ALMS1):c.8593G>A (p.Val2865Ile) rs780429128
NM_001378454.1(ALMS1):c.8593G>T (p.Val2865Leu)
NM_001378454.1(ALMS1):c.8600A>C (p.Glu2867Ala)
NM_001378454.1(ALMS1):c.8611A>G (p.Thr2871Ala) rs2103892484
NM_001378454.1(ALMS1):c.8614A>G (p.Ile2872Val) rs1672958523
NM_001378454.1(ALMS1):c.8629C>T (p.Pro2877Ser) rs2103892547
NM_001378454.1(ALMS1):c.8636G>T (p.Cys2879Phe) rs747099151
NM_001378454.1(ALMS1):c.8654G>T (p.Arg2885Leu)
NM_001378454.1(ALMS1):c.8658_8783del (p.Ser2891_Gln2932del)
NM_001378454.1(ALMS1):c.8669_8672delinsTCTCACT (p.Gln2890_Ser2891delinsLeuSerLeu)
NM_001378454.1(ALMS1):c.8677G>A (p.Ala2893Thr) rs2103892779
NM_001378454.1(ALMS1):c.8683C>A (p.Arg2895Ser) rs765969711
NM_001378454.1(ALMS1):c.8696A>G (p.His2899Arg)
NM_001378454.1(ALMS1):c.8699T>C (p.Val2900Ala) rs1672960979
NM_001378454.1(ALMS1):c.86C>A (p.Ala29Asp)
NM_001378454.1(ALMS1):c.870C>T (p.Ser290=)
NM_001378454.1(ALMS1):c.8710C>T (p.His2904Tyr)
NM_001378454.1(ALMS1):c.871A>G (p.Ser291Gly) rs2103714771
NM_001378454.1(ALMS1):c.8738A>T (p.Tyr2913Phe)
NM_001378454.1(ALMS1):c.8744C>T (p.Ala2915Val)
NM_001378454.1(ALMS1):c.8753T>G (p.Leu2918Arg)
NM_001378454.1(ALMS1):c.8753_8754delinsGA (p.Leu2918Arg)
NM_001378454.1(ALMS1):c.8756CTT[1] (p.Ser2920del) rs1553409775
NM_001378454.1(ALMS1):c.875G>A (p.Arg292His)
NM_001378454.1(ALMS1):c.8770C>T (p.Leu2924Phe)
NM_001378454.1(ALMS1):c.8771T>C (p.Leu2924Pro)
NM_001378454.1(ALMS1):c.8774AAC[1] (p.Gln2926del) rs2103893243
NM_001378454.1(ALMS1):c.8776C>A (p.Gln2926Lys)
NM_001378454.1(ALMS1):c.8778A>G (p.Gln2926=)
NM_001378454.1(ALMS1):c.8788T>G (p.Phe2930Val) rs751893253
NM_001378454.1(ALMS1):c.8804C>T (p.Ala2935Val)
NM_001378454.1(ALMS1):c.8816A>G (p.Asp2939Gly) rs886056313
NM_001378454.1(ALMS1):c.8817T>A (p.Asp2939Glu)
NM_001378454.1(ALMS1):c.8822A>G (p.Gln2941Arg)
NM_001378454.1(ALMS1):c.8824A>G (p.Met2942Val) rs2103893441
NM_001378454.1(ALMS1):c.8833A>G (p.Asn2945Asp) rs1330910084
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg) rs574785830
NM_001378454.1(ALMS1):c.8840C>T (p.Ser2947Phe)
NM_001378454.1(ALMS1):c.8861A>T (p.Asp2954Val) rs751940353
NM_001378454.1(ALMS1):c.8862T>G (p.Asp2954Glu)
NM_001378454.1(ALMS1):c.8884T>C (p.Ser2962Pro)
NM_001378454.1(ALMS1):c.8890A>C (p.Ile2964Leu) rs529506570
NM_001378454.1(ALMS1):c.8894C>G (p.Ser2965Cys) rs2103893808
NM_001378454.1(ALMS1):c.8902C>G (p.Gln2968Glu) rs758433515
NM_001378454.1(ALMS1):c.8910A>C (p.Gln2970His) rs2103893881
NM_001378454.1(ALMS1):c.8910A>G (p.Gln2970=)
NM_001378454.1(ALMS1):c.8911A>G (p.Ser2971Gly) rs746825059
NM_001378454.1(ALMS1):c.8934C>A (p.Asp2978Glu)
NM_001378454.1(ALMS1):c.893A>G (p.His298Arg)
NM_001378454.1(ALMS1):c.8950C>T (p.His2984Tyr)
NM_001378454.1(ALMS1):c.8951A>G (p.His2984Arg)
NM_001378454.1(ALMS1):c.8957C>A (p.Pro2986His) rs1022866808
NM_001378454.1(ALMS1):c.8957C>T (p.Pro2986Leu) rs1022866808
NM_001378454.1(ALMS1):c.8959C>G (p.Leu2987Val) rs952528298
NM_001378454.1(ALMS1):c.895C>G (p.Pro299Ala)
NM_001378454.1(ALMS1):c.8963C>T (p.Pro2988Leu) rs1224152145
NM_001378454.1(ALMS1):c.8965C>G (p.Gln2989Glu)
NM_001378454.1(ALMS1):c.8967A>G (p.Gln2989=)
NM_001378454.1(ALMS1):c.896C>T (p.Pro299Leu) rs199899389
NM_001378454.1(ALMS1):c.8977T>C (p.Cys2993Arg) rs2103894140
NM_001378454.1(ALMS1):c.8983G>A (p.Val2995Met) rs1553409810
NM_001378454.1(ALMS1):c.8989A>C (p.Lys2997Gln)
NM_001378454.1(ALMS1):c.8990A>C (p.Lys2997Thr)
NM_001378454.1(ALMS1):c.9004A>C (p.Lys3002Gln)
NM_001378454.1(ALMS1):c.9006G>C (p.Lys3002Asn) rs753980616
NM_001378454.1(ALMS1):c.9008C>T (p.Pro3003Leu) rs755044727
NM_001378454.1(ALMS1):c.9009T>G (p.Pro3003=)
NM_001378454.1(ALMS1):c.9010A>G (p.Lys3004Glu)
NM_001378454.1(ALMS1):c.9012A>G (p.Lys3004=)
NM_001378454.1(ALMS1):c.9016C>T (p.His3006Tyr) rs779131632
NM_001378454.1(ALMS1):c.901A>G (p.Ile301Val) rs534913971
NM_001378454.1(ALMS1):c.9032A>G (p.Asn3011Ser) rs1672972439
NM_001378454.1(ALMS1):c.9049A>G (p.Asn3017Asp) rs1572970420
NM_001378454.1(ALMS1):c.9050A>T (p.Asn3017Ile)
NM_001378454.1(ALMS1):c.9053C>G (p.Thr3018Ser) rs2103894447
NM_001378454.1(ALMS1):c.9062C>G (p.Ser3021Cys)
NM_001378454.1(ALMS1):c.908G>A (p.Ser303Asn)
NM_001378454.1(ALMS1):c.90_92del (p.Ala35del) rs973057702
NM_001378454.1(ALMS1):c.9109CCT[1] (p.Pro3038del) rs759799299
NM_001378454.1(ALMS1):c.9116C>T (p.Ser3039Leu) rs1672974629
NM_001378454.1(ALMS1):c.9121A>G (p.Arg3041Gly) rs757177003
NM_001378454.1(ALMS1):c.9125A>C (p.Lys3042Thr)
NM_001378454.1(ALMS1):c.9127G>A (p.Ala3043Thr) rs373870241
NM_001378454.1(ALMS1):c.9133T>C (p.Ser3045Pro) rs1300179474
NM_001378454.1(ALMS1):c.9134C>G (p.Ser3045Cys)
NM_001378454.1(ALMS1):c.9136T>C (p.Cys3046Arg)
NM_001378454.1(ALMS1):c.9139G>A (p.Val3047Ile)
NM_001378454.1(ALMS1):c.9140T>G (p.Val3047Gly)
NM_001378454.1(ALMS1):c.9149C>A (p.Thr3050Asn) rs2103894928
NM_001378454.1(ALMS1):c.9149C>G (p.Thr3050Ser)
NM_001378454.1(ALMS1):c.9154T>G (p.Cys3052Gly) rs1672975660
NM_001378454.1(ALMS1):c.9155G>C (p.Cys3052Ser)
NM_001378454.1(ALMS1):c.9157C>G (p.Pro3053Ala) rs1672976080
NM_001378454.1(ALMS1):c.9158C>T (p.Pro3053Leu) rs768273806
NM_001378454.1(ALMS1):c.9160A>G (p.Lys3054Glu)
NM_001378454.1(ALMS1):c.9185G>A (p.Gly3062Glu)
NM_001378454.1(ALMS1):c.9194A>C (p.Asp3065Ala)
NM_001378454.1(ALMS1):c.91GCG[3] (p.Ala34_Ala35del) rs746896173
NM_001378454.1(ALMS1):c.9205C>T (p.His3069Tyr)
NM_001378454.1(ALMS1):c.920G>A (p.Gly307Glu) rs2103714961
NM_001378454.1(ALMS1):c.9235A>G (p.Met3079Val)
NM_001378454.1(ALMS1):c.9242G>T (p.Ser3081Ile) rs750425368
NM_001378454.1(ALMS1):c.925C>G (p.Gln309Glu) rs1558639213
NM_001378454.1(ALMS1):c.9262C>T (p.His3088Tyr) rs1672978412
NM_001378454.1(ALMS1):c.9278G>T (p.Arg3093Ile) rs1320008798
NM_001378454.1(ALMS1):c.9292A>G (p.Thr3098Ala) rs1280854716
NM_001378454.1(ALMS1):c.9293C>A (p.Thr3098Asn) rs1553409866
NM_001378454.1(ALMS1):c.9320T>A (p.Val3107Glu)
NM_001378454.1(ALMS1):c.9325C>G (p.Gln3109Glu) rs1558667813
NM_001378454.1(ALMS1):c.9336A>T (p.Glu3112Asp) rs1558667820
NM_001378454.1(ALMS1):c.9337T>C (p.Ser3113Pro) rs1572970696
NM_001378454.1(ALMS1):c.9342A>C (p.Leu3114Phe) rs759935236
NM_001378454.1(ALMS1):c.9353G>A (p.Gly3118Glu) rs1672980678
NM_001378454.1(ALMS1):c.9367C>A (p.Leu3123Met) rs751613156
NM_001378454.1(ALMS1):c.9371A>G (p.Asp3124Gly)
NM_001378454.1(ALMS1):c.9377A>G (p.Gln3126Arg) rs1553409872
NM_001378454.1(ALMS1):c.9380T>C (p.Val3127Ala) rs2103895825
NM_001378454.1(ALMS1):c.9382G>T (p.Val3128Leu) rs764937531
NM_001378454.1(ALMS1):c.9389C>T (p.Pro3130Leu)
NM_001378454.1(ALMS1):c.9394C>T (p.Leu3132Phe)
NM_001378454.1(ALMS1):c.9398C>G (p.Pro3133Arg)
NM_001378454.1(ALMS1):c.9401A>G (p.Asp3134Gly)
NM_001378454.1(ALMS1):c.9409A>G (p.Thr3137Ala)
NM_001378454.1(ALMS1):c.9410C>G (p.Thr3137Ser) rs775701628
NM_001378454.1(ALMS1):c.9423C>G (p.Asp3141Glu) rs1486652095
NM_001378454.1(ALMS1):c.9433A>G (p.Ile3145Val) rs767987000
NM_001378454.1(ALMS1):c.9433A>T (p.Ile3145Leu) rs767987000
NM_001378454.1(ALMS1):c.9484A>G (p.Ile3162Val)
NM_001378454.1(ALMS1):c.9490G>A (p.Asp3164Asn) rs2103896409
NM_001378454.1(ALMS1):c.9499G>A (p.Gly3167Arg) rs746440819
NM_001378454.1(ALMS1):c.94G>A (p.Ala32Thr)
NM_001378454.1(ALMS1):c.950A>G (p.Gln317Arg)
NM_001378454.1(ALMS1):c.9511C>G (p.Pro3171Ala)
NM_001378454.1(ALMS1):c.9524C>T (p.Pro3175Leu)
NM_001378454.1(ALMS1):c.9539+11T>C
NM_001378454.1(ALMS1):c.9554T>C (p.Met3185Thr) rs2103961851
NM_001378454.1(ALMS1):c.9555G>A (p.Met3185Ile)
NM_001378454.1(ALMS1):c.9566T>C (p.Leu3189Pro)
NM_001378454.1(ALMS1):c.956A>G (p.Asn319Ser)
NM_001378454.1(ALMS1):c.9578C>T (p.Ser3193Phe)
NM_001378454.1(ALMS1):c.9584A>C (p.Lys3195Thr)
NM_001378454.1(ALMS1):c.9598G>T (p.Ala3200Ser)
NM_001378454.1(ALMS1):c.9605C>T (p.Thr3202Ile)
NM_001378454.1(ALMS1):c.9614C>G (p.Thr3205Arg)
NM_001378454.1(ALMS1):c.9616A>G (p.Thr3206Ala) rs878853092
NM_001378454.1(ALMS1):c.9629A>G (p.Glu3210Gly)
NM_001378454.1(ALMS1):c.9633G>T (p.Lys3211Asn) rs373013570
NM_001378454.1(ALMS1):c.9654T>G (p.Ile3218Met)
NM_001378454.1(ALMS1):c.9658A>G (p.Ile3220Val) rs760370290
NM_001378454.1(ALMS1):c.9659T>C (p.Ile3220Thr)
NM_001378454.1(ALMS1):c.9662A>G (p.Asn3221Ser) rs1673639492
NM_001378454.1(ALMS1):c.9673C>G (p.Arg3225Gly) rs200215551
NM_001378454.1(ALMS1):c.9673C>T (p.Arg3225Cys) rs200215551
NM_001378454.1(ALMS1):c.9677G>A (p.Gly3226Glu) rs1673640308
NM_001378454.1(ALMS1):c.9684A>C (p.Glu3228Asp)
NM_001378454.1(ALMS1):c.968C>G (p.Thr323Ser)
NM_001378454.1(ALMS1):c.9691G>A (p.Glu3231Lys)
NM_001378454.1(ALMS1):c.9697G>C (p.Gly3233Arg) rs757474886
NM_001378454.1(ALMS1):c.970A>G (p.Ile324Val)
NM_001378454.1(ALMS1):c.9721C>A (p.Pro3241Thr) rs746680944
NM_001378454.1(ALMS1):c.9738ATC[1] (p.Ser3249del)
NM_001378454.1(ALMS1):c.973T>C (p.Ser325Pro)
NM_001378454.1(ALMS1):c.9742T>C (p.Ser3248Pro)
NM_001378454.1(ALMS1):c.9743C>G (p.Ser3248Cys)
NM_001378454.1(ALMS1):c.9754_9755insCTC (p.Gln3251_Gln3252insPro) rs766127195
NM_001378454.1(ALMS1):c.976T>C (p.Ser326Pro)
NM_001378454.1(ALMS1):c.9772G>T (p.Gly3258Cys) rs769100528
NM_001378454.1(ALMS1):c.9773G>A (p.Gly3258Asp)
NM_001378454.1(ALMS1):c.9778G>A (p.Asp3260Asn)
NM_001378454.1(ALMS1):c.9779A>C (p.Asp3260Ala) rs745518051
NM_001378454.1(ALMS1):c.9782G>A (p.Gly3261Asp) rs2103991983
NM_001378454.1(ALMS1):c.9785delinsGGCC (p.Gln3262delinsArgPro)
NM_001378454.1(ALMS1):c.9806A>C (p.Lys3269Thr)
NM_001378454.1(ALMS1):c.9809C>T (p.Pro3270Leu) rs551032553
NM_001378454.1(ALMS1):c.9814G>A (p.Gly3272Ser) rs1673993273
NM_001378454.1(ALMS1):c.9823A>G (p.Lys3275Glu)
NM_001378454.1(ALMS1):c.9826A>G (p.Met3276Val)
NM_001378454.1(ALMS1):c.9827T>A (p.Met3276Lys) rs1673993582
NM_001378454.1(ALMS1):c.9860C>T (p.Pro3287Leu)
NM_001378454.1(ALMS1):c.9889G>A (p.Val3297Ile)
NM_001378454.1(ALMS1):c.9911C>A (p.Ser3304Tyr)
NM_001378454.1(ALMS1):c.9911C>G (p.Ser3304Cys) rs2104034683
NM_001378454.1(ALMS1):c.9917A>G (p.Asp3306Gly) rs746138259
NM_001378454.1(ALMS1):c.9917A>T (p.Asp3306Val)
NM_001378454.1(ALMS1):c.991A>G (p.Lys331Glu) rs2103715291
NM_001378454.1(ALMS1):c.9922A>G (p.Ile3308Val)
NM_001378454.1(ALMS1):c.993A>C (p.Lys331Asn) rs1671344444
NM_001378454.1(ALMS1):c.9946G>A (p.Val3316Met)
NM_001378454.1(ALMS1):c.9962A>T (p.Asp3321Val)
NM_001378454.1(ALMS1):c.9968A>G (p.Asp3323Gly) rs1573013147
NM_001378454.1(ALMS1):c.9976G>A (p.Ala3326Thr) rs201213079
NM_001378454.1(ALMS1):c.9980C>T (p.Thr3327Ile)
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla) rs746896173

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.