ClinVar Miner

List of variants in gene ALS2

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Gene type:
ClinVar version:
Total variants: 983
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HGVS dbSNP gnomAD frequency
NM_020919.4(ALS2):c.4123-64G>A rs1210940 0.97856
NM_020919.4(ALS2):c.4936-129A>G rs7603563 0.89063
NM_020919.4(ALS2):c.4688+208G>T rs7598082 0.89029
NM_020919.4(ALS2):c.4627-69T>A rs3219171 0.89021
NM_020919.4(ALS2):c.4281-326G>C rs7592619 0.89019
NM_020919.4(ALS2):c.4004+127A>G rs10469756 0.89018
NM_020919.4(ALS2):c.4581-48T>C rs3219170 0.89015
NM_020919.4(ALS2):c.4281-211G>A rs2058661 0.89013
NM_020919.4(ALS2):c.4015C>T (p.Leu1339=) rs3219168 0.89012
NM_020919.4(ALS2):c.4935+281T>C rs7567758 0.89007
NM_020919.4(ALS2):c.1102G>A (p.Val368Met) rs3219156 0.86916
NM_020919.4(ALS2):c.4004+25C>T rs3219167 0.81578
NM_020919.4(ALS2):c.4005-76T>C rs2882231 0.61063
NM_020919.4(ALS2):c.2170+104G>T rs4673207 0.59632
NM_020919.4(ALS2):c.2171-287C>T rs3731702 0.56925
NM_020919.4(ALS2):c.2171-62C>T rs3731703 0.54921
NM_020919.4(ALS2):c.2351+204G>A rs10451572 0.54893
NM_020919.4(ALS2):c.2581-133T>C rs13029960 0.52895
NM_020919.4(ALS2):c.1999-213C>T rs3820967 0.50660
NM_020919.4(ALS2):c.1815+216C>G rs7561225 0.49548
NM_020919.4(ALS2):c.2466G>A (p.Val822=) rs2276615 0.46627
NM_020919.4(ALS2):c.3702+113G>A rs7572898 0.36878
NM_020919.4(ALS2):c.4936-152G>A rs3731707 0.26832
NM_020919.4(ALS2):c.4403+255C>T rs7589396 0.20254
NM_020919.4(ALS2):c.3348-75A>G rs3219163 0.19823
NM_020919.4(ALS2):c.4580+7G>A rs3219169 0.17898
NM_020919.4(ALS2):c.4281-92G>C rs2058662 0.17338
NM_020919.4(ALS2):c.4005-111G>A rs10200479 0.17277
NM_020919.4(ALS2):c.1114-27A>G rs28729117 0.16122
NM_020919.4(ALS2):c.20+7T>C rs3219153 0.16113
NM_020919.4(ALS2):c.176-84T>G rs2075194 0.16112
NM_020919.4(ALS2):c.3702+180A>G rs79812041 0.09628
NM_020919.4(ALS2):c.3347+287G>A rs113016388 0.08842
NM_020919.4(ALS2):c.3348-313A>G rs111659619 0.08782
NM_020919.4(ALS2):c.3513-166A>G rs77292123 0.08782
NM_020919.4(ALS2):c.2713-96T>C rs7601642 0.08741
NM_020919.4(ALS2):c.2581-291T>C rs12470499 0.08727
NM_020919.4(ALS2):c.2581-274T>C rs74666822 0.08721
NM_020919.4(ALS2):c.3347+248T>C rs147764281 0.08709
NM_020919.4(ALS2):c.2796C>T (p.Ser932=) rs3219161 0.08298
NM_020919.4(ALS2):c.*1004G>A rs11300 0.07577
NM_020919.4(ALS2):c.*893C>T rs3219174 0.05509
NM_020919.4(ALS2):c.1998+305A>G rs74422936 0.05358
NM_020919.4(ALS2):c.3513-86G>A rs55655838 0.05159
NM_020919.4(ALS2):c.2913-58C>T rs115270366 0.05079
NM_020919.4(ALS2):c.21-205G>A rs144908912 0.04330
NM_020919.4(ALS2):c.-60-318C>T rs74523306 0.03495
NM_020919.4(ALS2):c.1113+202T>G rs116568613 0.03493
NM_020919.4(ALS2):c.280A>G (p.Ile94Val) rs3219154 0.03476
NM_020919.4(ALS2):c.2841+48del rs141560438 0.03404
NM_020919.4(ALS2):c.175+251T>C rs141739392 0.03340
NM_020919.4(ALS2):c.175+239G>A rs1972580 0.03331
NM_020919.4(ALS2):c.2842-16G>A rs9288322 0.03008
NM_020919.4(ALS2):c.1998+194A>G rs76469436 0.02728
NM_020919.4(ALS2):c.3885G>A (p.Ala1295=) rs34946105 0.02614
NM_020919.4(ALS2):c.2980-26T>A rs41308838 0.02021
NM_020919.4(ALS2):c.4404-183A>C rs41258154 0.01799
NM_020919.4(ALS2):c.2841+253G>A rs13426362 0.01621
NM_020919.4(ALS2):c.1999-171G>C rs79625706 0.01584
NM_020919.4(ALS2):c.4004+67A>C rs75897720 0.01539
NM_020919.4(ALS2):c.2913-202A>G rs56950049 0.01512
NM_020919.4(ALS2):c.2171-181C>T rs114803685 0.01492
NM_020919.4(ALS2):c.3702+107G>T rs79985232 0.01468
NM_020919.4(ALS2):c.4581-71C>T rs58206672 0.01409
NM_020919.4(ALS2):c.4935+226C>T rs112891990 0.01405
NM_020919.4(ALS2):c.4005-75G>A rs78077917 0.01324
NM_020919.4(ALS2):c.2841+136C>T rs57508033 0.01315
NM_020919.4(ALS2):c.3512+233C>G rs141734735 0.01275
NM_020919.4(ALS2):c.*447G>A rs3219173 0.01169
NM_020919.4(ALS2):c.1998+30A>G rs115712995 0.01100
NM_020919.4(ALS2):c.3348-290A>G rs114849386 0.01033
NM_020919.4(ALS2):c.1472-188T>G rs115566541 0.01002
NM_020919.4(ALS2):c.*105A>C rs141509107 0.00995
NM_020919.4(ALS2):c.*379T>A rs144613080 0.00995
NM_020919.4(ALS2):c.*163A>G rs3219172 0.00975
NM_020919.4(ALS2):c.*942A>G rs41309066 0.00903
NM_020919.4(ALS2):c.*843G>A rs41309062 0.00827
NM_020919.4(ALS2):c.4581-7A>G rs114458388 0.00827
NM_020919.4(ALS2):c.4936-233G>A rs115186134 0.00816
NM_020919.4(ALS2):c.4005-311A>G rs143836255 0.00810
NM_020919.4(ALS2):c.3625-16_3625-15del rs370628135 0.00777
NM_020919.4(ALS2):c.4581-297G>A rs116356725 0.00759
NM_020919.4(ALS2):c.3249-293G>C rs145698189 0.00722
NM_020919.4(ALS2):c.21-189T>A rs182861797 0.00599
NM_020919.4(ALS2):c.21-246C>T rs187208218 0.00599
NM_020919.4(ALS2):c.21-208C>T rs140282977 0.00579
NM_020919.4(ALS2):c.175+123T>A rs535267338 0.00528
NM_020919.4(ALS2):c.4936-120G>T rs115726485 0.00514
NM_020919.4(ALS2):c.4764G>A (p.Ala1588=) rs35110478 0.00499
NM_020919.4(ALS2):c.2580+63G>A rs146580883 0.00481
NM_020919.4(ALS2):c.176-239C>T rs114883828 0.00457
NM_020919.4(ALS2):c.3703-135G>A rs13427256 0.00427
NM_020919.4(ALS2):c.475G>A (p.Glu159Lys) rs3219155 0.00334
NM_020919.4(ALS2):c.*1202C>T rs41309068 0.00327
NM_020919.4(ALS2):c.2842-20C>T rs189282198 0.00288
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met) rs61757691 0.00269
NM_020919.4(ALS2):c.2580+208C>T rs150899912 0.00214
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=) rs3219160 0.00208
NM_020919.4(ALS2):c.3309T>C (p.His1103=) rs201920363 0.00184
NM_020919.4(ALS2):c.1816-8C>T rs185911369 0.00165
NM_020919.4(ALS2):c.2979+102C>G rs192320972 0.00148
NM_020919.4(ALS2):c.4280+16A>G rs140257386 0.00133
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=) rs3219166 0.00112
NM_020919.4(ALS2):c.3905G>A (p.Arg1302His) rs199577696 0.00105
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg) rs190369242 0.00100
NM_020919.4(ALS2):c.3046C>G (p.Pro1016Ala) rs41308840 0.00099
NM_020919.4(ALS2):c.1472-18C>T rs371296732 0.00093
NM_020919.4(ALS2):c.3517G>A (p.Glu1173Lys) rs41309046 0.00090
NM_020919.4(ALS2):c.2980-18G>A rs3219162 0.00067
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507 0.00061
NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu) rs200706696 0.00057
NM_020919.4(ALS2):c.4416G>A (p.Thr1472=) rs200202953 0.00056
NM_020919.4(ALS2):c.4404-18C>T rs201341532 0.00048
NM_020919.4(ALS2):c.4964A>C (p.Lys1655Thr) rs199751225 0.00046
NM_020919.4(ALS2):c.2520A>C (p.Pro840=) rs201159691 0.00045
NM_020919.4(ALS2):c.1832G>C (p.Gly611Ala) rs201335536 0.00043
NM_020919.4(ALS2):c.*584G>A rs577282089 0.00041
NM_020919.4(ALS2):c.4688+15G>A rs139919006 0.00039
NM_020919.4(ALS2):c.1641G>A (p.Arg547=) rs34122078 0.00038
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn) rs201161419 0.00036
NM_020919.4(ALS2):c.2417+17C>T rs143734740 0.00036
NM_020919.4(ALS2):c.176-19T>A rs756097187 0.00035
NM_020919.4(ALS2):c.1158C>A (p.Thr386=) rs565166366 0.00029
NM_020919.4(ALS2):c.1677A>G (p.Lys559=) rs367640165 0.00026
NM_020919.4(ALS2):c.3872A>G (p.Glu1291Gly) rs147078120 0.00025
NM_020919.4(ALS2):c.1037A>G (p.Asn346Ser) rs199757764 0.00021
NM_020919.4(ALS2):c.1782C>T (p.Ser594=) rs371287525 0.00021
NM_020919.4(ALS2):c.2350G>A (p.Glu784Lys) rs199979606 0.00019
NM_020919.4(ALS2):c.2979+8T>C rs373602123 0.00019
NM_020919.4(ALS2):c.1164C>T (p.Ser388=) rs372566343 0.00018
NM_020919.4(ALS2):c.*1538C>G rs868173236 0.00016
NM_020919.4(ALS2):c.1578A>G (p.Thr526=) rs147284131 0.00016
NM_020919.4(ALS2):c.3656C>A (p.Thr1219Asn) rs372936145 0.00016
NM_020919.4(ALS2):c.3625-5T>C rs182151978 0.00015
NM_020919.4(ALS2):c.3876G>A (p.Lys1292=) rs200417604 0.00015
NM_020919.4(ALS2):c.*504G>A rs183326117 0.00014
NM_020919.4(ALS2):c.1114-19T>G rs200448709 0.00014
NM_020919.4(ALS2):c.358G>T (p.Ala120Ser) rs202084736 0.00014
NM_020919.4(ALS2):c.3746T>C (p.Phe1249Ser) rs551822626 0.00014
NM_020919.4(ALS2):c.3462G>A (p.Gln1154=) rs556027390 0.00013
NM_020919.4(ALS2):c.396G>A (p.Pro132=) rs374978798 0.00013
NM_020919.4(ALS2):c.267T>C (p.Val89=) rs571219883 0.00012
NM_020919.4(ALS2):c.4280+15C>T rs777662520 0.00012
NM_020919.4(ALS2):c.4317A>C (p.Thr1439=) rs376011573 0.00011
NM_020919.4(ALS2):c.4957C>T (p.Arg1653Cys) rs200416249 0.00011
NM_020919.4(ALS2):c.331G>A (p.Val111Ile) rs61745503 0.00010
NM_020919.4(ALS2):c.3331G>A (p.Gly1111Ser) rs371454893 0.00010
NM_020919.4(ALS2):c.4415C>T (p.Thr1472Met) rs201089588 0.00010
NM_020919.4(ALS2):c.2616T>C (p.Ser872=) rs368816555 0.00009
NM_020919.4(ALS2):c.2978A>C (p.Lys993Thr) rs199875684 0.00009
NM_020919.4(ALS2):c.3622A>T (p.Met1208Leu) rs753470319 0.00009
NM_020919.4(ALS2):c.*586G>A rs905259072 0.00008
NM_020919.4(ALS2):c.1815+4_1815+15del rs764299522 0.00008
NM_020919.4(ALS2):c.366G>A (p.Gln122=) rs775483404 0.00008
NM_020919.4(ALS2):c.3721A>C (p.Asn1241His) rs774125951 0.00008
NM_020919.4(ALS2):c.4123-20T>C rs191569890 0.00008
NM_020919.4(ALS2):c.2528G>A (p.Arg843Gln) rs368315489 0.00007
NM_020919.4(ALS2):c.4107G>A (p.Arg1369=) rs779286010 0.00007
NM_020919.4(ALS2):c.4368G>A (p.Gly1456=) rs751906518 0.00007
NM_020919.4(ALS2):c.-60-2A>G rs532217889 0.00006
NM_020919.4(ALS2):c.1114-7A>G rs377341424 0.00006
NM_020919.4(ALS2):c.1623C>T (p.His541=) rs377247745 0.00006
NM_020919.4(ALS2):c.2632C>T (p.Leu878Phe) rs568716023 0.00006
NM_020919.4(ALS2):c.2712G>A (p.Thr904=) rs201200488 0.00006
NM_020919.4(ALS2):c.2913-7G>A rs1317044515 0.00006
NM_020919.4(ALS2):c.3223A>G (p.Met1075Val) rs542644790 0.00006
NM_020919.4(ALS2):c.3330C>T (p.Cys1110=) rs375386357 0.00006
NM_020919.4(ALS2):c.3486A>C (p.Gly1162=) rs41309044 0.00006
NM_020919.4(ALS2):c.3836+18A>C rs180781055 0.00006
NM_020919.4(ALS2):c.3985C>T (p.Arg1329Trp) rs372763746 0.00006
NM_020919.4(ALS2):c.4194C>T (p.Tyr1398=) rs764925739 0.00006
NM_020919.4(ALS2):c.4345G>A (p.Glu1449Lys) rs779841299 0.00006
NM_020919.4(ALS2):c.725T>C (p.Met242Thr) rs200733209 0.00006
NM_020919.4(ALS2):c.300C>T (p.Ser100=) rs41308808 0.00005
NM_020919.4(ALS2):c.3047C>G (p.Pro1016Arg) rs776807292 0.00005
NM_020919.4(ALS2):c.3658A>G (p.Ile1220Val) rs370591665 0.00005
NM_020919.4(ALS2):c.3863C>T (p.Pro1288Leu) rs376835062 0.00005
NM_020919.4(ALS2):c.3983G>A (p.Ser1328Asn) rs1242751535 0.00005
NM_020919.4(ALS2):c.4200C>T (p.Gly1400=) rs376976879 0.00005
NM_020919.4(ALS2):c.4213C>T (p.Arg1405Cys) rs572110252 0.00005
NM_020919.4(ALS2):c.4495C>T (p.Arg1499Cys) rs112869526 0.00005
NM_020919.4(ALS2):c.861A>G (p.Glu287=) rs780368192 0.00005
NM_020919.4(ALS2):c.1129G>A (p.Ala377Thr) rs200990057 0.00004
NM_020919.4(ALS2):c.1265T>C (p.Met422Thr) rs372175711 0.00004
NM_020919.4(ALS2):c.1290T>C (p.Cys430=) rs768502916 0.00004
NM_020919.4(ALS2):c.1674C>A (p.Gly558=) rs750198886 0.00004
NM_020919.4(ALS2):c.175+18G>A rs374705603 0.00004
NM_020919.4(ALS2):c.1783G>A (p.Asp595Asn) rs199603159 0.00004
NM_020919.4(ALS2):c.18A>G (p.Arg6=) rs375556249 0.00004
NM_020919.4(ALS2):c.2004A>G (p.Gly668=) rs766414217 0.00004
NM_020919.4(ALS2):c.2098A>G (p.Thr700Ala) rs745544432 0.00004
NM_020919.4(ALS2):c.2282A>G (p.His761Arg) rs370377488 0.00004
NM_020919.4(ALS2):c.2331C>G (p.Leu777=) rs758546397 0.00004
NM_020919.4(ALS2):c.2541C>T (p.Tyr847=) rs181782027 0.00004
NM_020919.4(ALS2):c.2953C>T (p.Leu985Phe) rs41308836 0.00004
NM_020919.4(ALS2):c.3062G>A (p.Ser1021Asn) rs187637699 0.00004
NM_020919.4(ALS2):c.3319G>A (p.Gly1107Arg) rs757704778 0.00004
NM_020919.4(ALS2):c.3437C>T (p.Ser1146Phe) rs865875067 0.00004
NM_020919.4(ALS2):c.3564T>C (p.Gly1188=) rs41309048 0.00004
NM_020919.4(ALS2):c.3594C>T (p.Tyr1198=) rs781454879 0.00004
NM_020919.4(ALS2):c.395C>T (p.Pro132Leu) rs41308810 0.00004
NM_020919.4(ALS2):c.4164G>A (p.Glu1388=) rs781112431 0.00004
NM_020919.4(ALS2):c.474C>T (p.Gly158=) rs373190287 0.00004
NM_020919.4(ALS2):c.4958G>A (p.Arg1653His) rs190606035 0.00004
NM_020919.4(ALS2):c.508G>A (p.Glu170Lys) rs189254609 0.00004
NM_020919.4(ALS2):c.886G>A (p.Ala296Thr) rs765049503 0.00004
NM_020919.4(ALS2):c.1048C>T (p.Arg350Trp) rs769268310 0.00003
NM_020919.4(ALS2):c.1433G>C (p.Gly478Ala) rs373603368 0.00003
NM_020919.4(ALS2):c.1472-10T>G rs376714642 0.00003
NM_020919.4(ALS2):c.1737+3A>G rs3219158 0.00003
NM_020919.4(ALS2):c.1960A>G (p.Ser654Gly) rs61757690 0.00003
NM_020919.4(ALS2):c.1998+6C>G rs1359989080 0.00003
NM_020919.4(ALS2):c.2089G>A (p.Glu697Lys) rs772918314 0.00003
NM_020919.4(ALS2):c.2193A>G (p.Thr731=) rs757561918 0.00003
NM_020919.4(ALS2):c.2423T>G (p.Phe808Cys) rs745757311 0.00003
NM_020919.4(ALS2):c.2443C>T (p.Leu815=) rs200315481 0.00003
NM_020919.4(ALS2):c.2855A>G (p.His952Arg) rs372139071 0.00003
NM_020919.4(ALS2):c.2912+9G>T rs543664811 0.00003
NM_020919.4(ALS2):c.2913-8C>T rs764690525 0.00003
NM_020919.4(ALS2):c.313G>A (p.Ala105Thr) rs760204583 0.00003
NM_020919.4(ALS2):c.333C>T (p.Val111=) rs200617418 0.00003
NM_020919.4(ALS2):c.3395G>A (p.Arg1132His) rs753713733 0.00003
NM_020919.4(ALS2):c.3416G>A (p.Arg1139Gln) rs761444982 0.00003
NM_020919.4(ALS2):c.3466G>C (p.Val1156Leu) rs191150274 0.00003
NM_020919.4(ALS2):c.3702+20T>G rs200587972 0.00003
NM_020919.4(ALS2):c.4021C>T (p.Arg1341Cys) rs771371026 0.00003
NM_020919.4(ALS2):c.4404-17A>G rs755115415 0.00003
NM_020919.4(ALS2):c.4854C>T (p.Gly1618=) rs754172366 0.00003
NM_020919.4(ALS2):c.4861G>A (p.Val1621Ile) rs767012535 0.00003
NM_020919.4(ALS2):c.528C>T (p.Thr176=) rs35097965 0.00003
NM_020919.4(ALS2):c.815C>T (p.Ala272Val) rs769548352 0.00003
NM_020919.4(ALS2):c.956C>T (p.Ser319Phe) rs367631249 0.00003
NM_020919.4(ALS2):c.997G>T (p.Ala333Ser) rs777806515 0.00003
NM_020919.4(ALS2):c.1008A>G (p.Ile336Met) rs758265576 0.00002
NM_020919.4(ALS2):c.1114-17A>G rs764548964 0.00002
NM_020919.4(ALS2):c.1151C>T (p.Pro384Leu) rs1216448093 0.00002
NM_020919.4(ALS2):c.1251A>G (p.Ser417=) rs750482532 0.00002
NM_020919.4(ALS2):c.1283C>A (p.Thr428Asn) rs886055454 0.00002
NM_020919.4(ALS2):c.1502G>A (p.Arg501Gln) rs760216233 0.00002
NM_020919.4(ALS2):c.1558C>T (p.Leu520Phe) rs569869571 0.00002
NM_020919.4(ALS2):c.1624G>A (p.Gly542Ser) rs778030657 0.00002
NM_020919.4(ALS2):c.1815+8T>G rs746020900 0.00002
NM_020919.4(ALS2):c.2171-9T>C rs202247155 0.00002
NM_020919.4(ALS2):c.2326A>G (p.Ser776Gly) rs778099581 0.00002
NM_020919.4(ALS2):c.269G>A (p.Gly90Glu) rs374117082 0.00002
NM_020919.4(ALS2):c.272A>G (p.Gln91Arg) rs749141308 0.00002
NM_020919.4(ALS2):c.2735G>A (p.Arg912His) rs374156359 0.00002
NM_020919.4(ALS2):c.2833C>T (p.His945Tyr) rs768066388 0.00002
NM_020919.4(ALS2):c.2849C>T (p.Thr950Met) rs998799740 0.00002
NM_020919.4(ALS2):c.3128G>A (p.Arg1043His) rs755618674 0.00002
NM_020919.4(ALS2):c.3134A>T (p.Lys1045Met) rs781051642 0.00002
NM_020919.4(ALS2):c.3280A>G (p.Met1094Val) rs772708880 0.00002
NM_020919.4(ALS2):c.3307C>A (p.His1103Asn) rs778406073 0.00002
NM_020919.4(ALS2):c.334G>A (p.Ala112Thr) rs372826085 0.00002
NM_020919.4(ALS2):c.3394C>T (p.Arg1132Cys) rs149670991 0.00002
NM_020919.4(ALS2):c.339C>T (p.Tyr113=) rs370824570 0.00002
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) rs767350733 0.00002
NM_020919.4(ALS2):c.3442C>T (p.Pro1148Ser) rs771334830 0.00002
NM_020919.4(ALS2):c.35A>G (p.Glu12Gly) rs765976513 0.00002
NM_020919.4(ALS2):c.3617A>C (p.Lys1206Thr) rs376031467 0.00002
NM_020919.4(ALS2):c.37G>A (p.Gly13Arg) rs367871772 0.00002
NM_020919.4(ALS2):c.3894C>T (p.Asp1298=) rs371428175 0.00002
NM_020919.4(ALS2):c.3956A>G (p.Asp1319Gly) rs757425560 0.00002
NM_020919.4(ALS2):c.4004+34A>G rs746226743 0.00002
NM_020919.4(ALS2):c.4037C>G (p.Thr1346Arg) rs1232828907 0.00002
NM_020919.4(ALS2):c.4145C>T (p.Pro1382Leu) rs377174814 0.00002
NM_020919.4(ALS2):c.4636A>G (p.Thr1546Ala) rs772918575 0.00002
NM_020919.4(ALS2):c.468G>A (p.Ala156=) rs145506395 0.00002
NM_020919.4(ALS2):c.4692A>G (p.Thr1564=) rs532630245 0.00002
NM_020919.4(ALS2):c.4773C>T (p.His1591=) rs369015911 0.00002
NM_020919.4(ALS2):c.4831C>T (p.Arg1611Trp) rs779186036 0.00002
NM_020919.4(ALS2):c.4881A>G (p.Leu1627=) rs200069179 0.00002
NM_020919.4(ALS2):c.62A>G (p.His21Arg) rs775695422 0.00002
NM_020919.4(ALS2):c.88A>G (p.Ile30Val) rs199947290 0.00002
NM_020919.4(ALS2):c.*1093C>T rs983208576 0.00001
NM_020919.4(ALS2):c.*1249G>A rs886055451 0.00001
NM_020919.4(ALS2):c.*1259A>G rs888553434 0.00001
NM_020919.4(ALS2):c.*1398C>A rs759248084 0.00001
NM_020919.4(ALS2):c.*1501A>G rs1689312301 0.00001
NM_020919.4(ALS2):c.*1533C>T rs763133240 0.00001
NM_020919.4(ALS2):c.*302A>G rs1054683729 0.00001
NM_020919.4(ALS2):c.-31T>A rs886055456 0.00001
NM_020919.4(ALS2):c.1032A>G (p.Ala344=) rs1002785073 0.00001
NM_020919.4(ALS2):c.1033G>A (p.Val345Ile) rs768018989 0.00001
NM_020919.4(ALS2):c.1049G>A (p.Arg350Gln) rs763352024 0.00001
NM_020919.4(ALS2):c.1139A>C (p.Asn380Thr) rs1014182274 0.00001
NM_020919.4(ALS2):c.1171G>A (p.Ala391Thr) rs41308816 0.00001
NM_020919.4(ALS2):c.1178A>G (p.Asn393Ser) rs1693481434 0.00001
NM_020919.4(ALS2):c.1249T>C (p.Ser417Pro) rs1224213694 0.00001
NM_020919.4(ALS2):c.1325G>T (p.Gly442Val) rs780750146 0.00001
NM_020919.4(ALS2):c.1402G>A (p.Val468Met) rs1412043555 0.00001
NM_020919.4(ALS2):c.1403T>C (p.Val468Ala) rs751794543 0.00001
NM_020919.4(ALS2):c.146G>T (p.Gly49Val) rs1461116724 0.00001
NM_020919.4(ALS2):c.1472-17G>A rs754928761 0.00001
NM_020919.4(ALS2):c.1479C>T (p.Pro493=) rs759422605 0.00001
NM_020919.4(ALS2):c.1483C>G (p.Leu495Val) rs371171182 0.00001
NM_020919.4(ALS2):c.1509A>G (p.Lys503=) rs199634928 0.00001
NM_020919.4(ALS2):c.1531C>A (p.Pro511Thr) rs534602366 0.00001
NM_020919.4(ALS2):c.1545A>C (p.Gly515=) rs377402588 0.00001
NM_020919.4(ALS2):c.1640+10A>G rs755148474 0.00001
NM_020919.4(ALS2):c.1641-16T>C rs544486564 0.00001
NM_020919.4(ALS2):c.1650G>A (p.Pro550=) rs749442386 0.00001
NM_020919.4(ALS2):c.1805G>A (p.Arg602His) rs201496655 0.00001
NM_020919.4(ALS2):c.1816A>T (p.Ile606Leu) rs977136303 0.00001
NM_020919.4(ALS2):c.1867_1868del (p.Leu623fs) rs386134181 0.00001
NM_020919.4(ALS2):c.1885G>A (p.Glu629Lys) rs748812008 0.00001
NM_020919.4(ALS2):c.1887A>G (p.Glu629=) rs779616966 0.00001
NM_020919.4(ALS2):c.1964G>A (p.Gly655Asp) rs759573942 0.00001
NM_020919.4(ALS2):c.1969A>G (p.Lys657Glu) rs753947052 0.00001
NM_020919.4(ALS2):c.1988C>T (p.Ser663Phe) rs1410762746 0.00001
NM_020919.4(ALS2):c.20+9A>G rs763370210 0.00001
NM_020919.4(ALS2):c.2088C>T (p.His696=) rs762894364 0.00001
NM_020919.4(ALS2):c.2108G>C (p.Arg703Thr) rs770565853 0.00001
NM_020919.4(ALS2):c.2111G>A (p.Arg704Gln) rs200088152 0.00001
NM_020919.4(ALS2):c.2170+11A>G rs757541768 0.00001
NM_020919.4(ALS2):c.2171-13T>C rs188659196 0.00001
NM_020919.4(ALS2):c.2171-7G>A rs376270303 0.00001
NM_020919.4(ALS2):c.2221C>T (p.Arg741Ter) rs759408917 0.00001
NM_020919.4(ALS2):c.2222G>A (p.Arg741Gln) rs753349655 0.00001
NM_020919.4(ALS2):c.2337G>C (p.Leu779Phe) rs752549107 0.00001
NM_020919.4(ALS2):c.2362T>A (p.Ser788Thr) rs1184685995 0.00001
NM_020919.4(ALS2):c.2403T>C (p.Leu801=) rs202157209 0.00001
NM_020919.4(ALS2):c.2417+10C>T rs751211602 0.00001
NM_020919.4(ALS2):c.2450A>G (p.Gln817Arg) rs751084476 0.00001
NM_020919.4(ALS2):c.246C>T (p.Pro82=) rs773403266 0.00001
NM_020919.4(ALS2):c.2472C>T (p.Asp824=) rs761267157 0.00001
NM_020919.4(ALS2):c.2526A>G (p.Arg842=) rs1367631173 0.00001
NM_020919.4(ALS2):c.2566A>G (p.Thr856Ala) rs758153067 0.00001
NM_020919.4(ALS2):c.2604G>A (p.Leu868=) rs1330200086 0.00001
NM_020919.4(ALS2):c.2606A>C (p.Gln869Pro) rs1355321952 0.00001
NM_020919.4(ALS2):c.2712+16T>G rs766225716 0.00001
NM_020919.4(ALS2):c.2712+8A>C rs759746887 0.00001
NM_020919.4(ALS2):c.2737C>T (p.Arg913Ter) rs371140239 0.00001
NM_020919.4(ALS2):c.2745G>A (p.Leu915=) rs760609748 0.00001
NM_020919.4(ALS2):c.2779C>A (p.His927Asn) rs775164520 0.00001
NM_020919.4(ALS2):c.2802T>C (p.Asn934=) rs1265678329 0.00001
NM_020919.4(ALS2):c.2842-17C>T rs373865914 0.00001
NM_020919.4(ALS2):c.2842-9C>G rs1559051501 0.00001
NM_020919.4(ALS2):c.2856T>C (p.His952=) rs1343812559 0.00001
NM_020919.4(ALS2):c.2876T>C (p.Leu959Pro) rs1178248335 0.00001
NM_020919.4(ALS2):c.2909G>T (p.Gly970Val) rs375742430 0.00001
NM_020919.4(ALS2):c.2912+8C>T rs528131651 0.00001
NM_020919.4(ALS2):c.2961A>G (p.Ser987=) rs780301796 0.00001
NM_020919.4(ALS2):c.2992C>T (p.Arg998Ter) rs121908137 0.00001
NM_020919.4(ALS2):c.3078G>A (p.Gln1026=) rs747093220 0.00001
NM_020919.4(ALS2):c.3094C>T (p.Arg1032Cys) rs1054031459 0.00001
NM_020919.4(ALS2):c.3099T>A (p.Ser1033Arg) rs778609581 0.00001
NM_020919.4(ALS2):c.3145T>G (p.Tyr1049Asp) rs1691184710 0.00001
NM_020919.4(ALS2):c.3158G>A (p.Trp1053Ter) rs1064797281 0.00001
NM_020919.4(ALS2):c.3204T>C (p.Asp1068=) rs980513078 0.00001
NM_020919.4(ALS2):c.3249G>A (p.Gly1083=) rs751623487 0.00001
NM_020919.4(ALS2):c.326A>G (p.Asn109Ser) rs191980454 0.00001
NM_020919.4(ALS2):c.329G>T (p.Gly110Val) rs758017229 0.00001
NM_020919.4(ALS2):c.3345C>T (p.Tyr1115=) rs557709223 0.00001
NM_020919.4(ALS2):c.3440C>G (p.Ser1147Cys) rs777004596 0.00001
NM_020919.4(ALS2):c.3547G>A (p.Val1183Met) rs762235200 0.00001
NM_020919.4(ALS2):c.3558G>A (p.Gly1186=) rs1160534998 0.00001
NM_020919.4(ALS2):c.3584G>T (p.Gly1195Val) rs746029055 0.00001
NM_020919.4(ALS2):c.3616A>G (p.Lys1206Glu) rs1271344719 0.00001
NM_020919.4(ALS2):c.367T>C (p.Cys123Arg) rs1429775734 0.00001
NM_020919.4(ALS2):c.3703-7T>C rs201333167 0.00001
NM_020919.4(ALS2):c.3837-15A>G rs367873957 0.00001
NM_020919.4(ALS2):c.3858A>G (p.Ala1286=) rs777272990 0.00001
NM_020919.4(ALS2):c.3904C>T (p.Arg1302Cys) rs759509511 0.00001
NM_020919.4(ALS2):c.3930C>A (p.Gly1310=) rs780354290 0.00001
NM_020919.4(ALS2):c.3989G>A (p.Arg1330His) rs766208922 0.00001
NM_020919.4(ALS2):c.4004+1G>A rs1690335308 0.00001
NM_020919.4(ALS2):c.4022G>A (p.Arg1341His) rs761291489 0.00001
NM_020919.4(ALS2):c.405T>C (p.Asn135=) rs904657691 0.00001
NM_020919.4(ALS2):c.4069G>A (p.Val1357Ile) rs780988389 0.00001
NM_020919.4(ALS2):c.4177G>A (p.Val1393Met) rs757128191 0.00001
NM_020919.4(ALS2):c.4195G>A (p.Val1399Met) rs41309054 0.00001
NM_020919.4(ALS2):c.4214G>A (p.Arg1405His) rs768669586 0.00001
NM_020919.4(ALS2):c.4228G>C (p.Glu1410Gln) rs1450344301 0.00001
NM_020919.4(ALS2):c.4382G>A (p.Arg1461Gln) rs758889641 0.00001
NM_020919.4(ALS2):c.4404-14C>T rs375025577 0.00001
NM_020919.4(ALS2):c.4435C>T (p.Pro1479Ser) rs534239794 0.00001
NM_020919.4(ALS2):c.4451G>A (p.Arg1484Gln) rs772543276 0.00001
NM_020919.4(ALS2):c.4498G>A (p.Glu1500Lys) rs780151065 0.00001
NM_020919.4(ALS2):c.4507A>G (p.Ile1503Val) rs373792828 0.00001
NM_020919.4(ALS2):c.4581-16A>G rs765259932 0.00001
NM_020919.4(ALS2):c.4581-3T>C rs766074258 0.00001
NM_020919.4(ALS2):c.4626+10A>G rs1366207920 0.00001
NM_020919.4(ALS2):c.4626+1G>A rs1234882220 0.00001
NM_020919.4(ALS2):c.4627-5T>C rs764322790 0.00001
NM_020919.4(ALS2):c.4641G>A (p.Thr1547=) rs759206593 0.00001
NM_020919.4(ALS2):c.4642A>G (p.Lys1548Glu) rs1244653206 0.00001
NM_020919.4(ALS2):c.4733C>T (p.Thr1578Ile) rs1411563415 0.00001
NM_020919.4(ALS2):c.4763C>T (p.Ala1588Val) rs540726634 0.00001
NM_020919.4(ALS2):c.4808C>T (p.Pro1603Leu) rs1689580631 0.00001
NM_020919.4(ALS2):c.4820A>T (p.Tyr1607Phe) rs370296035 0.00001
NM_020919.4(ALS2):c.4871T>C (p.Ile1624Thr) rs189412622 0.00001
NM_020919.4(ALS2):c.4909C>T (p.Gln1637Ter) rs1689551469 0.00001
NM_020919.4(ALS2):c.499A>G (p.Ile167Val) rs575412396 0.00001
NM_020919.4(ALS2):c.535C>T (p.Gln179Ter) rs746255868 0.00001
NM_020919.4(ALS2):c.575C>T (p.Pro192Leu) rs778003334 0.00001
NM_020919.4(ALS2):c.602G>A (p.Arg201Gln) rs1476737735 0.00001
NM_020919.4(ALS2):c.660C>G (p.Leu220=) rs776870519 0.00001
NM_020919.4(ALS2):c.853A>G (p.Arg285Gly) rs778865969 0.00001
NM_020919.4(ALS2):c.979A>G (p.Thr327Ala) rs918262232 0.00001
NC_000002.11:g.(?_202566574)_(202633608_?)dup
NC_000002.11:g.(?_202571549)_(202571765_?)del
NC_000002.11:g.(?_202587756)_(202589192_?)del
NC_000002.12:g.201705201del rs1574655402
NM_020919.2(ALS2):c.[1825_1826insCAGTG];[3529G>T]
NM_020919.2(ALS2):c.[3565delG];[3624+5G>C]
NM_020919.3(ALS2):c.1472_1481delTTTCCCCCAG rs387906316
NM_020919.3(ALS2):c.[1911C>A;4261C>T]
NM_020919.4(ALS2):c.*1079A>G rs1689339340
NM_020919.4(ALS2):c.*1100A>G rs568221522
NM_020919.4(ALS2):c.*1219C>G rs549727520
NM_020919.4(ALS2):c.*1328G>T rs998591070
NM_020919.4(ALS2):c.*15T>G rs561331219
NM_020919.4(ALS2):c.*426T>A rs535733859
NM_020919.4(ALS2):c.*764A>G rs74933581
NM_020919.4(ALS2):c.*912A>G rs572942753
NM_020919.4(ALS2):c.-60-58del rs10655798
NM_020919.4(ALS2):c.-60-70_-60-69dup rs10655798
NM_020919.4(ALS2):c.-60-70dup rs10655798
NM_020919.4(ALS2):c.1000A>G (p.Arg334Gly)
NM_020919.4(ALS2):c.1007_1008del (p.Ile336fs) rs386134175
NM_020919.4(ALS2):c.1009C>A (p.Pro337Thr)
NM_020919.4(ALS2):c.1009C>T (p.Pro337Ser) rs752311938
NM_020919.4(ALS2):c.1011A>G (p.Pro337=) rs1574786314
NM_020919.4(ALS2):c.1016A>G (p.Tyr339Cys) rs1693728773
NM_020919.4(ALS2):c.1042T>C (p.Tyr348His) rs2106087522
NM_020919.4(ALS2):c.1044C>G (p.Tyr348Ter) rs1693726956
NM_020919.4(ALS2):c.1044C>T (p.Tyr348=) rs1693726956
NM_020919.4(ALS2):c.1054C>T (p.Leu352=) rs1574786180
NM_020919.4(ALS2):c.1054_1061del (p.Leu352fs) rs1574786170
NM_020919.4(ALS2):c.1091G>A (p.Gly364Asp)
NM_020919.4(ALS2):c.1109C>T (p.Ser370Phe)
NM_020919.4(ALS2):c.1113+10C>T
NM_020919.4(ALS2):c.1113+12A>G
NM_020919.4(ALS2):c.1113+17A>G
NM_020919.4(ALS2):c.1114-1G>A rs2106080813
NM_020919.4(ALS2):c.111C>G (p.Gly37=) rs2106102416
NM_020919.4(ALS2):c.1145_1150del (p.His382_Ser383del) rs750812960
NM_020919.4(ALS2):c.1148G>T (p.Ser383Ile)
NM_020919.4(ALS2):c.114G>A (p.Trp38Ter)
NM_020919.4(ALS2):c.1152G>T (p.Pro384=)
NM_020919.4(ALS2):c.1156A>G (p.Thr386Ala) rs1693483438
NM_020919.4(ALS2):c.1160C>T (p.Thr387Ile)
NM_020919.4(ALS2):c.116G>A (p.Gly39Glu) rs2106102393
NM_020919.4(ALS2):c.1171G>T (p.Ala391Ser) rs41308816
NM_020919.4(ALS2):c.1183C>T (p.Leu395=)
NM_020919.4(ALS2):c.1185GGT[1] (p.Val397del)
NM_020919.4(ALS2):c.1196G>A (p.Cys399Tyr)
NM_020919.4(ALS2):c.1204G>A (p.Ala402Thr)
NM_020919.4(ALS2):c.1233T>C (p.Tyr411=)
NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter) rs369577952
NM_020919.4(ALS2):c.1241G>A (p.Gly414Asp) rs1559079541
NM_020919.4(ALS2):c.1248G>A (p.Leu416=)
NM_020919.4(ALS2):c.1250C>A (p.Ser417Ter)
NM_020919.4(ALS2):c.1250C>T (p.Ser417Leu)
NM_020919.4(ALS2):c.1254G>A (p.Leu418=)
NM_020919.4(ALS2):c.1256A>T (p.Lys419Met) rs2106080408
NM_020919.4(ALS2):c.1289G>A (p.Cys430Tyr)
NM_020919.4(ALS2):c.1304A>T (p.Gln435Leu) rs1085307055
NM_020919.4(ALS2):c.1319C>G (p.Ala440Gly)
NM_020919.4(ALS2):c.131T>C (p.Leu44Ser)
NM_020919.4(ALS2):c.1321_1327del (p.Ile441fs)
NM_020919.4(ALS2):c.1325G>C (p.Gly442Ala) rs780750146
NM_020919.4(ALS2):c.1348A>T (p.Arg450Trp)
NM_020919.4(ALS2):c.1359G>C (p.Gln453His) rs796181791
NM_020919.4(ALS2):c.138A>G (p.Ala46=) rs2106102340
NM_020919.4(ALS2):c.138del (p.Ala47fs) rs386134173
NM_020919.4(ALS2):c.1414G>A (p.Glu472Lys)
NM_020919.4(ALS2):c.1416A>G (p.Glu472=)
NM_020919.4(ALS2):c.141C>G (p.Ala47=)
NM_020919.4(ALS2):c.1425_1428del (p.Gly477fs) rs878855058
NM_020919.4(ALS2):c.1427_1428del (p.Glu476fs) rs386134176
NM_020919.4(ALS2):c.142C>G (p.Leu48Val)
NM_020919.4(ALS2):c.142C>T (p.Leu48Phe)
NM_020919.4(ALS2):c.1439G>A (p.Arg480Gln) rs762706628
NM_020919.4(ALS2):c.1446C>T (p.Leu482=) rs765154810
NM_020919.4(ALS2):c.144C>A (p.Leu48=)
NM_020919.4(ALS2):c.1458A>G (p.Gly486=)
NM_020919.4(ALS2):c.1471+1G>A rs1693462968
NM_020919.4(ALS2):c.1471+3A>G rs2106079904
NM_020919.4(ALS2):c.1472-20C>T
NM_020919.4(ALS2):c.1472-20del rs571938132
NM_020919.4(ALS2):c.1479_1480insCGTGC (p.Leu495fs) rs1559076828
NM_020919.4(ALS2):c.1536A>G (p.Thr512=)
NM_020919.4(ALS2):c.1540A>G (p.Ser514Gly)
NM_020919.4(ALS2):c.154C>T (p.His52Tyr) rs1694137725
NM_020919.4(ALS2):c.1550C>G (p.Ala517Gly)
NM_020919.4(ALS2):c.1553A>G (p.Asp518Gly) rs1380894802
NM_020919.4(ALS2):c.1556C>T (p.Ala519Val)
NM_020919.4(ALS2):c.155A>G (p.His52Arg) rs1694137525
NM_020919.4(ALS2):c.158_160del (p.Gly53del) rs2106102271
NM_020919.4(ALS2):c.1600G>C (p.Gly534Arg) rs1553513641
NM_020919.4(ALS2):c.1606G>A (p.Glu536Lys)
NM_020919.4(ALS2):c.1611G>A (p.Gly537=) rs1400155946
NM_020919.4(ALS2):c.1618G>A (p.Gly540Arg)
NM_020919.4(ALS2):c.1619G>A (p.Gly540Glu) rs386134178
NM_020919.4(ALS2):c.1622del (p.His541fs) rs2106074302
NM_020919.4(ALS2):c.1626C>T (p.Gly542=)
NM_020919.4(ALS2):c.162TCT[1] (p.Leu56del) rs1320134230
NM_020919.4(ALS2):c.163C>T (p.Leu55Phe)
NM_020919.4(ALS2):c.1640+154C>G rs74456961
NM_020919.4(ALS2):c.1640+1G>A rs2106074229
NM_020919.4(ALS2):c.1640+7G>A
NM_020919.4(ALS2):c.1641-20C>T
NM_020919.4(ALS2):c.1641-4T>A
NM_020919.4(ALS2):c.1649C>T (p.Pro550Leu) rs2106071765
NM_020919.4(ALS2):c.1652T>A (p.Leu551Ter) rs1693173657
NM_020919.4(ALS2):c.1653G>A (p.Leu551=) rs2106071743
NM_020919.4(ALS2):c.1659A>G (p.Val553=) rs1553513336
NM_020919.4(ALS2):c.1673G>A (p.Gly558Asp)
NM_020919.4(ALS2):c.1685T>C (p.Ile562Thr) rs2106071633
NM_020919.4(ALS2):c.1686C>A (p.Ile562=)
NM_020919.4(ALS2):c.1686C>G (p.Ile562Met)
NM_020919.4(ALS2):c.1689T>C (p.His563=)
NM_020919.4(ALS2):c.169A>G (p.Thr57Ala) rs2106102252
NM_020919.4(ALS2):c.1718C>A (p.Ala573Glu) rs763455928
NM_020919.4(ALS2):c.1728G>A (p.Ala576=)
NM_020919.4(ALS2):c.1728G>T (p.Ala576=) rs764961356
NM_020919.4(ALS2):c.1737+7G>A
NM_020919.4(ALS2):c.1738-120A>C rs41308828
NM_020919.4(ALS2):c.1738-4A>G
NM_020919.4(ALS2):c.1738-6dup rs1051818923
NM_020919.4(ALS2):c.175+15G>T
NM_020919.4(ALS2):c.176-10dup rs777661762
NM_020919.4(ALS2):c.176-7C>T
NM_020919.4(ALS2):c.176-8dup rs1559084482
NM_020919.4(ALS2):c.176A>T (p.Asp59Val)
NM_020919.4(ALS2):c.1770A>G (p.Gln590=)
NM_020919.4(ALS2):c.1783G>T (p.Asp595Tyr) rs199603159
NM_020919.4(ALS2):c.1815+15T>C
NM_020919.4(ALS2):c.1816-10G>T rs191447972
NM_020919.4(ALS2):c.1816-17T>C
NM_020919.4(ALS2):c.1816-18_1816-17del
NM_020919.4(ALS2):c.1816-19T>C rs2106057101
NM_020919.4(ALS2):c.1816-1G>A rs1060503672
NM_020919.4(ALS2):c.1816-7G>A rs763440221
NM_020919.4(ALS2):c.1819A>G (p.Ser607Gly)
NM_020919.4(ALS2):c.183G>A (p.Glu61=)
NM_020919.4(ALS2):c.1850C>T (p.Ala617Val) rs2106056896
NM_020919.4(ALS2):c.1855A>G (p.Arg619Gly) rs773125812
NM_020919.4(ALS2):c.1880A>G (p.Asp627Gly)
NM_020919.4(ALS2):c.1886A>G (p.Glu629Gly) rs1692682988
NM_020919.4(ALS2):c.188A>G (p.Tyr63Cys)
NM_020919.4(ALS2):c.1890C>T (p.Asp630=)
NM_020919.4(ALS2):c.189C>T (p.Tyr63=)
NM_020919.4(ALS2):c.1911C>A (p.Tyr637Ter) rs863225294
NM_020919.4(ALS2):c.1919G>A (p.Arg640Gln)
NM_020919.4(ALS2):c.1921C>T (p.Gln641Ter) rs1553511680
NM_020919.4(ALS2):c.1946T>C (p.Leu649Pro)
NM_020919.4(ALS2):c.1960A>C (p.Ser654Arg) rs61757690
NM_020919.4(ALS2):c.1964G>C (p.Gly655Ala) rs759573942
NM_020919.4(ALS2):c.196G>A (p.Gly66Arg)
NM_020919.4(ALS2):c.1977A>T (p.Pro659=) rs1060504992
NM_020919.4(ALS2):c.197G>A (p.Gly66Glu)
NM_020919.4(ALS2):c.1998+11A>G rs2106056364
NM_020919.4(ALS2):c.1998+4A>G rs773142036
NM_020919.4(ALS2):c.1999-2A>T rs386134182
NM_020919.4(ALS2):c.2002G>T (p.Gly668Ter) rs730882255
NM_020919.4(ALS2):c.2016_2026del (p.Val673fs) rs1692492382
NM_020919.4(ALS2):c.2024C>G (p.Ala675Gly) rs201232912
NM_020919.4(ALS2):c.2028A>G (p.Gly676=) rs1379284072
NM_020919.4(ALS2):c.2032G>T (p.Asp678Tyr)
NM_020919.4(ALS2):c.2072A>C (p.Tyr691Ser) rs2106050968
NM_020919.4(ALS2):c.2077G>A (p.Ala693Thr) rs2106050920
NM_020919.4(ALS2):c.2088C>G (p.His696Gln)
NM_020919.4(ALS2):c.21-15T>C
NM_020919.4(ALS2):c.21-294G>A rs12465561
NM_020919.4(ALS2):c.2104G>T (p.Glu702Ter) rs1574748038
NM_020919.4(ALS2):c.2110C>T (p.Arg704Ter)
NM_020919.4(ALS2):c.2117A>G (p.Tyr706Cys)
NM_020919.4(ALS2):c.2143C>T (p.Gln715Ter) rs121908139
NM_020919.4(ALS2):c.215G>A (p.Ser72Asn) rs2106090137
NM_020919.4(ALS2):c.2168dup (p.Leu723fs)
NM_020919.4(ALS2):c.2170+15C>T rs1692481779
NM_020919.4(ALS2):c.2170+16del rs746926072
NM_020919.4(ALS2):c.2170+19T>C rs2106050526
NM_020919.4(ALS2):c.2171-25CAT[3] rs779494576
NM_020919.4(ALS2):c.2171-3T>C rs1250880797
NM_020919.4(ALS2):c.2171-4A>G rs780648054
NM_020919.4(ALS2):c.2180G>A (p.Gly727Asp)
NM_020919.4(ALS2):c.2181C>T (p.Gly727=)
NM_020919.4(ALS2):c.2186C>A (p.Thr729Lys)
NM_020919.4(ALS2):c.2187A>G (p.Thr729=)
NM_020919.4(ALS2):c.218G>A (p.Gly73Glu) rs754181704
NM_020919.4(ALS2):c.2196C>A (p.Val732=)
NM_020919.4(ALS2):c.225G>A (p.Val75=)
NM_020919.4(ALS2):c.2266T>C (p.Leu756=)
NM_020919.4(ALS2):c.226G>A (p.Glu76Lys) rs2106090105
NM_020919.4(ALS2):c.2272A>G (p.Ser758Gly)
NM_020919.4(ALS2):c.2296G>A (p.Ala766Thr)
NM_020919.4(ALS2):c.2302A>G (p.Ser768Gly) rs2106044167
NM_020919.4(ALS2):c.2320C>T (p.His774Tyr)
NM_020919.4(ALS2):c.2329C>G (p.Leu777Val)
NM_020919.4(ALS2):c.234T>C (p.Cys78=)
NM_020919.4(ALS2):c.2351+14C>T
NM_020919.4(ALS2):c.2351+15C>G
NM_020919.4(ALS2):c.2351A>G (p.Glu784Gly)
NM_020919.4(ALS2):c.2352-12T>A
NM_020919.4(ALS2):c.236C>G (p.Pro79Arg) rs1346805773
NM_020919.4(ALS2):c.2386G>C (p.Gly796Arg) rs2106035788
NM_020919.4(ALS2):c.2410C>A (p.Pro804Thr)
NM_020919.4(ALS2):c.2417+13A>C
NM_020919.4(ALS2):c.2417+16C>A
NM_020919.4(ALS2):c.2417+1G>C rs1275973309
NM_020919.4(ALS2):c.2417+246T>C rs3731704
NM_020919.4(ALS2):c.2418-14del rs202183857
NM_020919.4(ALS2):c.2430T>G (p.Asn810Lys) rs1691694793
NM_020919.4(ALS2):c.2464G>T (p.Val822Leu)
NM_020919.4(ALS2):c.2479A>G (p.Thr827Ala) rs202219507
NM_020919.4(ALS2):c.2487G>A (p.Leu829=) rs1691690962
NM_020919.4(ALS2):c.248T>G (p.Ile83Ser) rs886055455
NM_020919.4(ALS2):c.2491_2499del (p.Glu831_Leu833del) rs773628251
NM_020919.4(ALS2):c.2494A>T (p.Ile832Leu)
NM_020919.4(ALS2):c.2500A>C (p.Asn834His) rs1057519209
NM_020919.4(ALS2):c.2521A>G (p.Ile841Val)
NM_020919.4(ALS2):c.2525G>C (p.Arg842Thr)
NM_020919.4(ALS2):c.2527C>T (p.Arg843Ter)
NM_020919.4(ALS2):c.2528G>T (p.Arg843Leu) rs368315489
NM_020919.4(ALS2):c.2537_2538del (p.Asn846fs) rs386134183
NM_020919.4(ALS2):c.2539T>C (p.Tyr847His)
NM_020919.4(ALS2):c.2560C>G (p.Leu854Val) rs1691685356
NM_020919.4(ALS2):c.256A>G (p.Asn86Asp) rs2106090029
NM_020919.4(ALS2):c.2578G>A (p.Val860Met)
NM_020919.4(ALS2):c.2580+15A>G rs1691683706
NM_020919.4(ALS2):c.2580+2T>C rs2106023727
NM_020919.4(ALS2):c.2581-1G>C rs1057524355
NM_020919.4(ALS2):c.2581-24del rs113406595
NM_020919.4(ALS2):c.2581-5T>A rs1171928153
NM_020919.4(ALS2):c.2583A>G (p.Ala861=) rs1260262428
NM_020919.4(ALS2):c.2595T>C (p.Tyr865=) rs775628010
NM_020919.4(ALS2):c.261C>T (p.Ala87=)
NM_020919.4(ALS2):c.2630G>A (p.Cys877Tyr) rs1691380417
NM_020919.4(ALS2):c.2638C>G (p.Leu880Val) rs746901960
NM_020919.4(ALS2):c.2639T>C (p.Leu880Pro) rs2106012816
NM_020919.4(ALS2):c.2647G>A (p.Gly883Ser)
NM_020919.4(ALS2):c.2647G>T (p.Gly883Cys)
NM_020919.4(ALS2):c.2651G>A (p.Arg884Lys) rs371408833
NM_020919.4(ALS2):c.2675C>T (p.Thr892Ile) rs1085307536
NM_020919.4(ALS2):c.2700C>G (p.Pro900=)
NM_020919.4(ALS2):c.2707dup (p.Met903fs) rs2106012637
NM_020919.4(ALS2):c.2712+17G>A
NM_020919.4(ALS2):c.2712+5G>A
NM_020919.4(ALS2):c.2713-13T>C rs985399860
NM_020919.4(ALS2):c.2713-18A>T
NM_020919.4(ALS2):c.2713-198_2713-195del rs138393905
NM_020919.4(ALS2):c.2713-2A>C rs2106011709
NM_020919.4(ALS2):c.2756G>C (p.Ser919Thr) rs2106011572
NM_020919.4(ALS2):c.275_276del (p.Tyr92fs) rs1693780539
NM_020919.4(ALS2):c.2760C>T (p.Asn920=)
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter) rs587777132
NM_020919.4(ALS2):c.281T>G (p.Ile94Ser) rs780766554
NM_020919.4(ALS2):c.2839C>T (p.Gln947Ter)
NM_020919.4(ALS2):c.2841+13C>G
NM_020919.4(ALS2):c.2841+19C>G
NM_020919.4(ALS2):c.2841+261G>A rs11693071
NM_020919.4(ALS2):c.2842-2A>G rs2106009582
NM_020919.4(ALS2):c.2845_2854dup (p.His952fs) rs1553506317
NM_020919.4(ALS2):c.2850G>A (p.Thr950=)
NM_020919.4(ALS2):c.285T>G (p.Thr95=) rs2106089879
NM_020919.4(ALS2):c.2874G>A (p.Thr958=)
NM_020919.4(ALS2):c.2875C>A (p.Leu959Met) rs1553506293
NM_020919.4(ALS2):c.2880G>A (p.Trp960Ter)
NM_020919.4(ALS2):c.2892G>A (p.Leu964=)
NM_020919.4(ALS2):c.2912+15C>G
NM_020919.4(ALS2):c.2912+16C>G rs1691277696
NM_020919.4(ALS2):c.2912+9G>A rs543664811
NM_020919.4(ALS2):c.2913-13G>A rs367778182
NM_020919.4(ALS2):c.2913-15T>C
NM_020919.4(ALS2):c.2913-17C>A
NM_020919.4(ALS2):c.2913-30_2913-26del rs138413079
NM_020919.4(ALS2):c.2919C>G (p.Gly973=) rs2106008091
NM_020919.4(ALS2):c.2923A>G (p.Lys975Glu)
NM_020919.4(ALS2):c.2925G>A (p.Lys975=)
NM_020919.4(ALS2):c.2926A>G (p.Ile976Val)
NM_020919.4(ALS2):c.2929A>G (p.Thr977Ala) rs2106008063
NM_020919.4(ALS2):c.2979+13T>A rs1001846413
NM_020919.4(ALS2):c.2979+155dup rs11392576
NM_020919.4(ALS2):c.2979+20T>C
NM_020919.4(ALS2):c.2979+5G>A rs1553506071
NM_020919.4(ALS2):c.2979+7C>G
NM_020919.4(ALS2):c.2979+8del rs1691235468
NM_020919.4(ALS2):c.2979G>A (p.Lys993=) rs1559050770
NM_020919.4(ALS2):c.2980-19C>T
NM_020919.4(ALS2):c.2980-2A>G rs386134184
NM_020919.4(ALS2):c.2980-8G>C rs1305718603
NM_020919.4(ALS2):c.2980A>C (p.Thr994Pro) rs1359312602
NM_020919.4(ALS2):c.2998A>G (p.Ile1000Val)
NM_020919.4(ALS2):c.3015T>G (p.Asp1005Glu) rs2106006938
NM_020919.4(ALS2):c.3018G>A (p.Gln1006=) rs1574706478
NM_020919.4(ALS2):c.3045C>T (p.Pro1015=)
NM_020919.4(ALS2):c.3046C>A (p.Pro1016Thr)
NM_020919.4(ALS2):c.3047C>A (p.Pro1016His)
NM_020919.4(ALS2):c.3047C>T (p.Pro1016Leu) rs776807292
NM_020919.4(ALS2):c.3047dup (p.Tyr1017fs)
NM_020919.4(ALS2):c.3051T>C (p.Tyr1017=)
NM_020919.4(ALS2):c.3053G>A (p.Gly1018Glu) rs2106006781
NM_020919.4(ALS2):c.3070C>T (p.Gln1024Ter)
NM_020919.4(ALS2):c.3085C>T (p.Pro1029Ser) rs377400784
NM_020919.4(ALS2):c.3095G>A (p.Arg1032His)
NM_020919.4(ALS2):c.3096C>T (p.Arg1032=)
NM_020919.4(ALS2):c.3136G>A (p.Asp1046Asn)
NM_020919.4(ALS2):c.3139G>A (p.Ala1047Thr)
NM_020919.4(ALS2):c.3146A>G (p.Tyr1049Cys)
NM_020919.4(ALS2):c.3155G>A (p.Arg1052His)
NM_020919.4(ALS2):c.3161T>C (p.Leu1054Pro) rs1691183538
NM_020919.4(ALS2):c.3163T>G (p.Ser1055Ala)
NM_020919.4(ALS2):c.3183-3C>G rs1559049881
NM_020919.4(ALS2):c.3194A>C (p.Lys1065Thr)
NM_020919.4(ALS2):c.3215A>T (p.Tyr1072Phe)
NM_020919.4(ALS2):c.3221G>A (p.Gly1074Asp) rs2106005994
NM_020919.4(ALS2):c.3237C>A (p.Gly1079=)
NM_020919.4(ALS2):c.3248+12G>A
NM_020919.4(ALS2):c.3248+1G>C
NM_020919.4(ALS2):c.3248+1G>T rs2106005949
NM_020919.4(ALS2):c.3248+50G>A rs143317076
NM_020919.4(ALS2):c.3249-13T>C
NM_020919.4(ALS2):c.3249-20T>C
NM_020919.4(ALS2):c.3249-4G>A
NM_020919.4(ALS2):c.3249-6T>G rs757393391
NM_020919.4(ALS2):c.3249-7A>G
NM_020919.4(ALS2):c.3252T>C (p.Tyr1084=)
NM_020919.4(ALS2):c.3267C>T (p.Ile1089=) rs2106003904
NM_020919.4(ALS2):c.326del (p.Asn109fs) rs2106089798
NM_020919.4(ALS2):c.3271A>T (p.Asn1091Tyr)
NM_020919.4(ALS2):c.3273C>T (p.Asn1091=) rs770990657
NM_020919.4(ALS2):c.3315A>G (p.Lys1105=) rs2106003724
NM_020919.4(ALS2):c.3346A>G (p.Ser1116Gly)
NM_020919.4(ALS2):c.3347+11A>G
NM_020919.4(ALS2):c.3347+227dup rs200113676
NM_020919.4(ALS2):c.3347+7T>C
NM_020919.4(ALS2):c.3347+8T>C rs766421649
NM_020919.4(ALS2):c.3348-17A>G
NM_020919.4(ALS2):c.3348-1G>A rs2106001462
NM_020919.4(ALS2):c.336G>A (p.Ala112=)
NM_020919.4(ALS2):c.3381T>A (p.Phe1127Leu) rs2106001346
NM_020919.4(ALS2):c.3394C>A (p.Arg1132Ser)
NM_020919.4(ALS2):c.3431C>T (p.Thr1144Met)
NM_020919.4(ALS2):c.3442_3444del (p.Pro1148del) rs2106001109
NM_020919.4(ALS2):c.3447T>C (p.Ser1149=) rs2106001103
NM_020919.4(ALS2):c.3449T>A (p.Met1150Lys) rs747308306
NM_020919.4(ALS2):c.346G>A (p.Gly116Arg) rs1693775888
NM_020919.4(ALS2):c.347G>A (p.Gly116Glu) rs2106089689
NM_020919.4(ALS2):c.3512+13_3512+15del rs756485980
NM_020919.4(ALS2):c.3512+19A>G
NM_020919.4(ALS2):c.3512+6G>A
NM_020919.4(ALS2):c.3512+8A>G
NM_020919.4(ALS2):c.3513-1G>A rs2105999102
NM_020919.4(ALS2):c.3513-2A>T
NM_020919.4(ALS2):c.3513-2del rs2105999112
NM_020919.4(ALS2):c.3513-7T>A rs1237267302
NM_020919.4(ALS2):c.3516_3517delinsT (p.Glu1173fs)
NM_020919.4(ALS2):c.3517delG rs1317051984
NM_020919.4(ALS2):c.3520A>T (p.Lys1174Ter) rs757972700
NM_020919.4(ALS2):c.3534G>C (p.Met1178Ile)
NM_020919.4(ALS2):c.356CTG[1] (p.Ala120del)
NM_020919.4(ALS2):c.3583G>T (p.Gly1195Ter) rs1574698048
NM_020919.4(ALS2):c.3597_3599del (p.Glu1199_Gly1200delinsAsp) rs1064797280
NM_020919.4(ALS2):c.3602A>C (p.Asn1201Thr)
NM_020919.4(ALS2):c.3619del (p.Lys1206_Met1207insTer) rs386134187
NM_020919.4(ALS2):c.3624+10A>G
NM_020919.4(ALS2):c.3624+12A>G
NM_020919.4(ALS2):c.3624+14_3624+21del
NM_020919.4(ALS2):c.3624+1G>A rs2105998730
NM_020919.4(ALS2):c.3624+3G>C rs2105998722
NM_020919.4(ALS2):c.3624+6T>C rs886823785
NM_020919.4(ALS2):c.3645C>T (p.Ser1215=)
NM_020919.4(ALS2):c.3653A>G (p.Asp1218Gly) rs2105998170
NM_020919.4(ALS2):c.365A>G (p.Gln122Arg)
NM_020919.4(ALS2):c.3666A>T (p.Glu1222Asp)
NM_020919.4(ALS2):c.368G>A (p.Cys123Tyr) rs1057523547
NM_020919.4(ALS2):c.3692T>A (p.Leu1231His)
NM_020919.4(ALS2):c.3699A>G (p.Gly1233=) rs2105998031
NM_020919.4(ALS2):c.3702+17_3702+20del rs751712553
NM_020919.4(ALS2):c.3702+183G>T rs78117864
NM_020919.4(ALS2):c.3702+326A>G
NM_020919.4(ALS2):c.3702+51dup rs3219165
NM_020919.4(ALS2):c.3703-14C>G
NM_020919.4(ALS2):c.3703-16C>T
NM_020919.4(ALS2):c.3703-2A>C
NM_020919.4(ALS2):c.3703-2A>G rs1690532210
NM_020919.4(ALS2):c.3703-6A>T rs1574684292
NM_020919.4(ALS2):c.3711G>A (p.Leu1237=) rs2105987447
NM_020919.4(ALS2):c.3722A>G (p.Asn1241Ser) rs1690531316
NM_020919.4(ALS2):c.3785C>T (p.Thr1262Ile) rs1553503506
NM_020919.4(ALS2):c.3797C>G (p.Pro1266Arg)
NM_020919.4(ALS2):c.3799dup (p.Ser1267fs)
NM_020919.4(ALS2):c.3804A>G (p.Leu1268=)
NM_020919.4(ALS2):c.3808G>A (p.Glu1270Lys)
NM_020919.4(ALS2):c.3809A>G (p.Glu1270Gly) rs891714775
NM_020919.4(ALS2):c.3814G>A (p.Asp1272Asn)
NM_020919.4(ALS2):c.3816T>C (p.Asp1272=)
NM_020919.4(ALS2):c.3829A>T (p.Lys1277Ter)
NM_020919.4(ALS2):c.3831A>G (p.Lys1277=)
NM_020919.4(ALS2):c.3836+14G>A rs2105987078
NM_020919.4(ALS2):c.3836+3G>A rs2105987125
NM_020919.4(ALS2):c.3836+8_3836+11del
NM_020919.4(ALS2):c.3837-7T>C
NM_020919.4(ALS2):c.3849A>C (p.Gly1283=) rs2105982146
NM_020919.4(ALS2):c.3860_3865del (p.Val1287_Pro1288del) rs759145161
NM_020919.4(ALS2):c.3870T>C (p.Asp1290=)
NM_020919.4(ALS2):c.3884C>T (p.Ala1295Val)
NM_020919.4(ALS2):c.3893del (p.Asp1298fs)
NM_020919.4(ALS2):c.3897A>G (p.Glu1299=)
NM_020919.4(ALS2):c.3900_3902del (p.Cys1300del)
NM_020919.4(ALS2):c.3937G>A (p.Glu1313Lys)
NM_020919.4(ALS2):c.3939A>C (p.Glu1313Asp) rs781519422
NM_020919.4(ALS2):c.3958A>G (p.Asn1320Asp) rs370183884
NM_020919.4(ALS2):c.3981C>T (p.Thr1327=) rs1190350825
NM_020919.4(ALS2):c.3986G>A (p.Arg1329Gln) rs753871476
NM_020919.4(ALS2):c.4004+11A>C rs1690334312
NM_020919.4(ALS2):c.4004+18C>T rs771785319
NM_020919.4(ALS2):c.4004+6T>A rs1553502811
NM_020919.4(ALS2):c.4005-127T>C rs112993737
NM_020919.4(ALS2):c.4005-134G>T rs16838095
NM_020919.4(ALS2):c.4005T>C (p.Ser1335=)
NM_020919.4(ALS2):c.4022G>T (p.Arg1341Leu) rs761291489
NM_020919.4(ALS2):c.4064del (p.Gln1355fs)
NM_020919.4(ALS2):c.4096G>T (p.Asp1366Tyr)
NM_020919.4(ALS2):c.409G>A (p.Val137Ile)
NM_020919.4(ALS2):c.4122+12T>C
NM_020919.4(ALS2):c.4123-14C>G
NM_020919.4(ALS2):c.4123-152dup rs11407264
NM_020919.4(ALS2):c.4123-19T>C
NM_020919.4(ALS2):c.4123-2A>G
NM_020919.4(ALS2):c.4123-4T>C rs886055453
NM_020919.4(ALS2):c.4131C>T (p.Asp1377=) rs1279602015
NM_020919.4(ALS2):c.4141C>T (p.His1381Tyr) rs1574665478
NM_020919.4(ALS2):c.4146C>G (p.Pro1382=) rs780302685
NM_020919.4(ALS2):c.4150G>A (p.Gly1384Ser)
NM_020919.4(ALS2):c.4171G>A (p.Val1391Ile) rs1420843762
NM_020919.4(ALS2):c.4181A>G (p.Tyr1394Cys)
NM_020919.4(ALS2):c.4191A>T (p.Thr1397=)
NM_020919.4(ALS2):c.4201G>A (p.Val1401Ile)
NM_020919.4(ALS2):c.4206A>G (p.Gly1402=) rs2105972127
NM_020919.4(ALS2):c.4223T>A (p.Leu1408Ter) rs2105972075
NM_020919.4(ALS2):c.4224G>A (p.Leu1408=)
NM_020919.4(ALS2):c.4227G>T (p.Gln1409His)
NM_020919.4(ALS2):c.4243A>G (p.Ile1415Val)
NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter) rs863225293
NM_020919.4(ALS2):c.4270C>T (p.Gln1424Ter) rs1689931402
NM_020919.4(ALS2):c.4280+17C>T
NM_020919.4(ALS2):c.4280+19A>G
NM_020919.4(ALS2):c.4281-13del
NM_020919.4(ALS2):c.4281-196C>T rs77202762
NM_020919.4(ALS2):c.4281-20T>C
NM_020919.4(ALS2):c.4281G>A (p.Arg1427=)
NM_020919.4(ALS2):c.4281G>T (p.Arg1427Ser) rs746790680
NM_020919.4(ALS2):c.4303G>A (p.Glu1435Lys) rs2105969377
NM_020919.4(ALS2):c.4305A>C (p.Glu1435Asp)
NM_020919.4(ALS2):c.4332T>A (p.Ala1444=) rs1689826544
NM_020919.4(ALS2):c.4333C>G (p.Pro1445Ala) rs1559032116
NM_020919.4(ALS2):c.4363A>G (p.Thr1455Ala)
NM_020919.4(ALS2):c.4365T>G (p.Thr1455=) rs1394019839
NM_020919.4(ALS2):c.4366G>C (p.Gly1456Arg) rs886055452
NM_020919.4(ALS2):c.4368G>T (p.Gly1456=)
NM_020919.4(ALS2):c.4368del (p.Lys1457fs) rs2105969251
NM_020919.4(ALS2):c.4381C>T (p.Arg1461Ter) rs374047961
NM_020919.4(ALS2):c.4382G>T (p.Arg1461Leu) rs758889641
NM_020919.4(ALS2):c.4396G>A (p.Glu1466Lys)
NM_020919.4(ALS2):c.4399C>G (p.Pro1467Ala) rs180758472
NM_020919.4(ALS2):c.4403+15del rs755283897
NM_020919.4(ALS2):c.4403+17G>A rs1689819506
NM_020919.4(ALS2):c.4403+246A>G rs115996502
NM_020919.4(ALS2):c.4403+2T>A
NM_020919.4(ALS2):c.4403+4A>G rs1559031941
NM_020919.4(ALS2):c.4403+9A>G
NM_020919.4(ALS2):c.4404-5T>C
NM_020919.4(ALS2):c.4407T>C (p.Tyr1469=)
NM_020919.4(ALS2):c.4425A>G (p.Gly1475=)
NM_020919.4(ALS2):c.4436C>G (p.Pro1479Arg) rs769600851
NM_020919.4(ALS2):c.4464G>A (p.Pro1488=)
NM_020919.4(ALS2):c.4466T>C (p.Leu1489Pro) rs1057524356
NM_020919.4(ALS2):c.4478A>C (p.Tyr1493Ser) rs1689754943
NM_020919.4(ALS2):c.4479T>C (p.Tyr1493=)
NM_020919.4(ALS2):c.4528C>T (p.Arg1510Ter) rs1391892163
NM_020919.4(ALS2):c.4536T>G (p.Asn1512Lys)
NM_020919.4(ALS2):c.4544_4547dup (p.Ile1517fs) rs1337097412
NM_020919.4(ALS2):c.4566T>C (p.Phe1522=) rs1214757167
NM_020919.4(ALS2):c.4567C>T (p.Leu1523Phe)
NM_020919.4(ALS2):c.4573dup (p.Val1525fs) rs730882256
NM_020919.4(ALS2):c.4580+11T>C
NM_020919.4(ALS2):c.4580+17C>A
NM_020919.4(ALS2):c.4580+17C>T rs758954201
NM_020919.4(ALS2):c.4581-313dup rs56953805
NM_020919.4(ALS2):c.4591C>G (p.Pro1531Ala)
NM_020919.4(ALS2):c.4596A>G (p.Ala1532=)
NM_020919.4(ALS2):c.45G>C (p.Lys15Asn) rs2106102596
NM_020919.4(ALS2):c.460C>T (p.Gln154Ter)
NM_020919.4(ALS2):c.461A>G (p.Gln154Arg) rs1693768928
NM_020919.4(ALS2):c.4626+12T>G
NM_020919.4(ALS2):c.4626+19del
NM_020919.4(ALS2):c.4626+6G>A rs931003947
NM_020919.4(ALS2):c.4626+7T>C rs1157290648
NM_020919.4(ALS2):c.4627-15C>T
NM_020919.4(ALS2):c.4627-4G>A rs765859367
NM_020919.4(ALS2):c.4627G>T (p.Val1543Phe) rs760222980
NM_020919.4(ALS2):c.4640C>T (p.Thr1547Met) rs1472406927
NM_020919.4(ALS2):c.4670A>G (p.Glu1557Gly)
NM_020919.4(ALS2):c.4689-10T>C rs755629995
NM_020919.4(ALS2):c.4689-7G>A
NM_020919.4(ALS2):c.469T>G (p.Cys157Gly) rs1693768160
NM_020919.4(ALS2):c.4708G>C (p.Asp1570His)
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr) rs121908138
NM_020919.4(ALS2):c.4721del (p.Val1574fs) rs386134188
NM_020919.4(ALS2):c.4725C>T (p.Ile1575=) rs2105963799
NM_020919.4(ALS2):c.4751A>T (p.Gln1584Leu)
NM_020919.4(ALS2):c.4753_4754dup (p.Ser1585fs) rs1689584119
NM_020919.4(ALS2):c.4761G>A (p.Leu1587=)
NM_020919.4(ALS2):c.4764G>C (p.Ala1588=) rs35110478
NM_020919.4(ALS2):c.4817T>C (p.Leu1606Ser)
NM_020919.4(ALS2):c.4818A>G (p.Leu1606=) rs555220239
NM_020919.4(ALS2):c.4832G>A (p.Arg1611Gln) rs1689578912
NM_020919.4(ALS2):c.4832G>C (p.Arg1611Pro)
NM_020919.4(ALS2):c.4837A>T (p.Arg1613Trp) rs1689578448
NM_020919.4(ALS2):c.4838+10T>C
NM_020919.4(ALS2):c.4838+13T>C rs377218529
NM_020919.4(ALS2):c.4838+19del rs752516794
NM_020919.4(ALS2):c.4838+1G>A
NM_020919.4(ALS2):c.4838+1del rs1167814155
NM_020919.4(ALS2):c.4839-11C>T
NM_020919.4(ALS2):c.4839-4G>T
NM_020919.4(ALS2):c.4858G>A (p.Glu1620Lys) rs1559027755
NM_020919.4(ALS2):c.4863A>G (p.Val1621=)
NM_020919.4(ALS2):c.4878T>A (p.Asp1626Glu) rs2105963102
NM_020919.4(ALS2):c.4897C>T (p.Gln1633Ter) rs797044934
NM_020919.4(ALS2):c.4899G>A (p.Gln1633=)
NM_020919.4(ALS2):c.4910A>G (p.Gln1637Arg) rs1290433006
NM_020919.4(ALS2):c.4914T>G (p.Gly1638=) rs1574653542
NM_020919.4(ALS2):c.492A>G (p.Ala164=)
NM_020919.4(ALS2):c.4935+10G>A rs1041450924
NM_020919.4(ALS2):c.4936-1G>C
NM_020919.4(ALS2):c.4938A>G (p.Ala1646=) rs1689412209
NM_020919.4(ALS2):c.4946A>C (p.Tyr1649Ser)
NM_020919.4(ALS2):c.514T>G (p.Trp172Gly) rs2106089188
NM_020919.4(ALS2):c.519A>G (p.Ala173=)
NM_020919.4(ALS2):c.533G>T (p.Cys178Phe)
NM_020919.4(ALS2):c.553del (p.Thr185fs) rs386134174
NM_020919.4(ALS2):c.576G>C (p.Pro192=) rs368315644
NM_020919.4(ALS2):c.582G>A (p.Lys194=)
NM_020919.4(ALS2):c.596C>T (p.Ala199Val)
NM_020919.4(ALS2):c.601C>T (p.Arg201Ter) rs1574787779
NM_020919.4(ALS2):c.605T>C (p.Val202Ala)
NM_020919.4(ALS2):c.60C>G (p.Val20=)
NM_020919.4(ALS2):c.624T>G (p.Cys208Trp) rs1057522810
NM_020919.4(ALS2):c.628G>T (p.Ala210Ser) rs200372769
NM_020919.4(ALS2):c.641T>G (p.Leu214Ter)
NM_020919.4(ALS2):c.653A>G (p.Gln218Arg)
NM_020919.4(ALS2):c.654A>G (p.Gln218=)
NM_020919.4(ALS2):c.661C>T (p.Pro221Ser)
NM_020919.4(ALS2):c.675G>A (p.Leu225=)
NM_020919.4(ALS2):c.676A>G (p.Lys226Glu)
NM_020919.4(ALS2):c.690A>G (p.Glu230=) rs1304097208
NM_020919.4(ALS2):c.691C>T (p.Arg231Ter) rs1340248169
NM_020919.4(ALS2):c.693A>C (p.Arg231=)
NM_020919.4(ALS2):c.71A>G (p.Gln24Arg) rs947112051
NM_020919.4(ALS2):c.735_738del (p.Glu246fs) rs1064793583
NM_020919.4(ALS2):c.749T>C (p.Ile250Thr) rs2106088499
NM_020919.4(ALS2):c.752T>C (p.Ile251Thr)
NM_020919.4(ALS2):c.77G>C (p.Gly26Ala) rs1189474050
NM_020919.4(ALS2):c.780T>G (p.Gly260=)
NM_020919.4(ALS2):c.784A>G (p.Thr262Ala)
NM_020919.4(ALS2):c.786A>G (p.Thr262=)
NM_020919.4(ALS2):c.792A>G (p.Thr264=)
NM_020919.4(ALS2):c.802G>A (p.Ala268Thr) rs2106088370
NM_020919.4(ALS2):c.811C>T (p.His271Tyr)
NM_020919.4(ALS2):c.845C>T (p.Thr282Ile)
NM_020919.4(ALS2):c.848T>G (p.Leu283Arg)
NM_020919.4(ALS2):c.864del (p.Val289fs) rs2106088185
NM_020919.4(ALS2):c.878C>G (p.Thr293Ser) rs537187775
NM_020919.4(ALS2):c.878C>T (p.Thr293Ile) rs537187775
NM_020919.4(ALS2):c.879T>A (p.Thr293=) rs757197882
NM_020919.4(ALS2):c.881T>C (p.Leu294Pro)
NM_020919.4(ALS2):c.882T>C (p.Leu294=)
NM_020919.4(ALS2):c.883G>A (p.Val295Ile)
NM_020919.4(ALS2):c.902T>C (p.Val301Ala)
NM_020919.4(ALS2):c.907A>G (p.Thr303Ala)
NM_020919.4(ALS2):c.913del (p.Glu304_Leu305insTer) rs1574786641
NM_020919.4(ALS2):c.929C>T (p.Ala310Val)
NM_020919.4(ALS2):c.92C>T (p.Thr31Ile)
NM_020919.4(ALS2):c.938C>G (p.Thr313Arg)
NM_020919.4(ALS2):c.945C>T (p.Ser315=) rs770056959
NM_020919.4(ALS2):c.960T>C (p.Ser320=) rs2106087780
NM_020919.4(ALS2):c.977del (p.Gly326fs)

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