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)
|
|
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NM_020919.4(ALS2):c.690A>G (p.Glu230=)
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rs1304097208
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NM_020919.4(ALS2):c.693A>C (p.Arg231=)
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NM_020919.4(ALS2):c.71A>G (p.Gln24Arg)
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rs947112051
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NM_020919.4(ALS2):c.735_738del (p.Glu246fs)
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rs1064793583
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NM_020919.4(ALS2):c.749T>C (p.Ile250Thr)
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rs2106088499
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NM_020919.4(ALS2):c.77G>C (p.Gly26Ala)
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rs1189474050
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NM_020919.4(ALS2):c.780T>G (p.Gly260=)
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NM_020919.4(ALS2):c.784A>G (p.Thr262Ala)
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NM_020919.4(ALS2):c.786A>G (p.Thr262=)
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NM_020919.4(ALS2):c.802G>A (p.Ala268Thr)
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rs2106088370
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NM_020919.4(ALS2):c.845C>T (p.Thr282Ile)
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NM_020919.4(ALS2):c.848T>G (p.Leu283Arg)
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NM_020919.4(ALS2):c.864del (p.Val289fs)
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rs2106088185
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NM_020919.4(ALS2):c.878C>T (p.Thr293Ile)
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rs537187775
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NM_020919.4(ALS2):c.879T>A (p.Thr293=)
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rs757197882
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NM_020919.4(ALS2):c.881T>C (p.Leu294Pro)
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NM_020919.4(ALS2):c.882T>C (p.Leu294=)
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NM_020919.4(ALS2):c.883G>A (p.Val295Ile)
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NM_020919.4(ALS2):c.902T>C (p.Val301Ala)
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NM_020919.4(ALS2):c.907A>G (p.Thr303Ala)
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NM_020919.4(ALS2):c.913del (p.Glu304_Leu305insTer)
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rs1574786641
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NM_020919.4(ALS2):c.929C>T (p.Ala310Val)
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NM_020919.4(ALS2):c.92C>T (p.Thr31Ile)
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NM_020919.4(ALS2):c.938C>G (p.Thr313Arg)
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NM_020919.4(ALS2):c.945C>T (p.Ser315=)
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rs770056959
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NM_020919.4(ALS2):c.960T>C (p.Ser320=)
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rs2106087780
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NM_020919.4(ALS2):c.977del (p.Gly326fs)
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