ClinVar Miner

List of variants in gene ALS2 studied for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 803
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020919.4(ALS2):c.4123-64G>A rs1210940 0.97856
NM_020919.4(ALS2):c.4627-69T>A rs3219171 0.89021
NM_020919.4(ALS2):c.4581-48T>C rs3219170 0.89015
NM_020919.4(ALS2):c.4015C>T (p.Leu1339=) rs3219168 0.89012
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.2171-62C>T rs3731703 0.54921
NM_020919.4(ALS2):c.2466G>A (p.Val822=) rs2276615 0.46627
NM_020919.4(ALS2):c.4580+7G>A rs3219169 0.17898
NM_020919.4(ALS2):c.20+7T>C rs3219153 0.16113
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.280A>G (p.Ile94Val) rs3219154 0.03476
NM_020919.4(ALS2):c.2842-16G>A rs9288322 0.03008
NM_020919.4(ALS2):c.3885G>A (p.Ala1295=) rs34946105 0.02614
NM_020919.4(ALS2):c.*447G>A rs3219173 0.01169
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.3625-16_3625-15del rs370628135 0.00777
NM_020919.4(ALS2):c.4764G>A (p.Ala1588=) rs35110478 0.00499
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.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.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.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.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.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.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.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.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.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.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.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.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.4382G>A (p.Arg1461Gln) rs758889641 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.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
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.*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.1007_1008del (p.Ile336fs) rs386134175
NM_020919.4(ALS2):c.1009C>A (p.Pro337Thr)
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.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.114G>A (p.Trp38Ter)
NM_020919.4(ALS2):c.1152G>T (p.Pro384=)
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.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.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.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.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.1611G>A (p.Gly537=) rs1400155946
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+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.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.1738-6dup 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.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.2104G>T (p.Glu702Ter) rs1574748038
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.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.2302A>G (p.Ser768Gly) rs2106044167
NM_020919.4(ALS2):c.2320C>T (p.His774Tyr)
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.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.2418-14del rs202183857
NM_020919.4(ALS2):c.2430T>G (p.Asn810Lys) rs1691694793
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.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.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.2581-5T>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.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.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.2713-2A>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.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.2842-2A>G rs2106009582
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.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.2979+13T>A rs1001846413
NM_020919.4(ALS2):c.2979+20T>C
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.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.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.3249-13T>C
NM_020919.4(ALS2):c.3249-20T>C
NM_020919.4(ALS2):c.3249-4G>A
NM_020919.4(ALS2):c.3249-7A>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.3347+11A>G
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.3513-7T>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.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.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.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.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.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.3939A>C (p.Glu1313Asp) rs781519422
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.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.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.4123-19T>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.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.4223T>A (p.Leu1408Ter) rs2105972075
NM_020919.4(ALS2):c.4224G>A (p.Leu1408=)
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.4281-20T>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.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.4368del (p.Lys1457fs) rs2105969251
NM_020919.4(ALS2):c.4381C>T (p.Arg1461Ter) rs374047961
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+2T>A
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.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.4591C>G (p.Pro1531Ala)
NM_020919.4(ALS2):c.4596A>G (p.Ala1532=)
NM_020919.4(ALS2):c.460C>T (p.Gln154Ter)
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.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.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.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.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.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.601C>T (p.Arg201Ter) rs1574787779
NM_020919.4(ALS2):c.60C>G (p.Val20=)
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.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.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.802G>A (p.Ala268Thr) rs2106088370
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>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)

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.