NM_020919.4(ALS2):c.1641G>A (p.Arg547=)
|
rs34122078
|
0.00038
|
NM_020919.4(ALS2):c.1037A>G (p.Asn346Ser)
|
rs199757764
|
0.00021
|
NM_020919.4(ALS2):c.3656C>A (p.Thr1219Asn)
|
rs372936145
|
0.00016
|
NM_020919.4(ALS2):c.3746T>C (p.Phe1249Ser)
|
rs551822626
|
0.00014
|
NM_020919.4(ALS2):c.4957C>T (p.Arg1653Cys)
|
rs200416249
|
0.00011
|
NM_020919.4(ALS2):c.3331G>A (p.Gly1111Ser)
|
rs371454893
|
0.00010
|
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.1815+4_1815+15del
|
rs764299522
|
0.00008
|
NM_020919.4(ALS2):c.3721A>C (p.Asn1241His)
|
rs774125951
|
0.00008
|
NM_020919.4(ALS2):c.2528G>A (p.Arg843Gln)
|
rs368315489
|
0.00007
|
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.3223A>G (p.Met1075Val)
|
rs542644790
|
0.00006
|
NM_020919.4(ALS2):c.3985C>T (p.Arg1329Trp)
|
rs372763746
|
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.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.4213C>T (p.Arg1405Cys)
|
rs572110252
|
0.00005
|
NM_020919.4(ALS2):c.4495C>T (p.Arg1499Cys)
|
rs112869526
|
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.1783G>A (p.Asp595Asn)
|
rs199603159
|
0.00004
|
NM_020919.4(ALS2):c.2282A>G (p.His761Arg)
|
rs370377488
|
0.00004
|
NM_020919.4(ALS2):c.3062G>A (p.Ser1021Asn)
|
rs187637699
|
0.00004
|
NM_020919.4(ALS2):c.3437C>T (p.Ser1146Phe)
|
rs865875067
|
0.00004
|
NM_020919.4(ALS2):c.395C>T (p.Pro132Leu)
|
rs41308810
|
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.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.2855A>G (p.His952Arg)
|
rs372139071
|
0.00003
|
NM_020919.4(ALS2):c.313G>A (p.Ala105Thr)
|
rs760204583
|
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.4021C>T (p.Arg1341Cys)
|
rs771371026
|
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.1008A>G (p.Ile336Met)
|
rs758265576
|
0.00002
|
NM_020919.4(ALS2):c.1151C>T (p.Pro384Leu)
|
rs1216448093
|
0.00002
|
NM_020919.4(ALS2):c.1502G>A (p.Arg501Gln)
|
rs760216233
|
0.00002
|
NM_020919.4(ALS2):c.1624G>A (p.Gly542Ser)
|
rs778030657
|
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.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.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.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.62A>G (p.His21Arg)
|
rs775695422
|
0.00002
|
NM_020919.4(ALS2):c.88A>G (p.Ile30Val)
|
rs199947290
|
0.00002
|
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.1483C>G (p.Leu495Val)
|
rs371171182
|
0.00001
|
NM_020919.4(ALS2):c.1531C>A (p.Pro511Thr)
|
rs534602366
|
0.00001
|
NM_020919.4(ALS2):c.1816A>T (p.Ile606Leu)
|
rs977136303
|
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.2108G>C (p.Arg703Thr)
|
rs770565853
|
0.00001
|
NM_020919.4(ALS2):c.2111G>A (p.Arg704Gln)
|
rs200088152
|
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.2566A>G (p.Thr856Ala)
|
rs758153067
|
0.00001
|
NM_020919.4(ALS2):c.2606A>C (p.Gln869Pro)
|
rs1355321952
|
0.00001
|
NM_020919.4(ALS2):c.2779C>A (p.His927Asn)
|
rs775164520
|
0.00001
|
NM_020919.4(ALS2):c.2876T>C (p.Leu959Pro)
|
rs1178248335
|
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.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.3440C>G (p.Ser1147Cys)
|
rs777004596
|
0.00001
|
NM_020919.4(ALS2):c.3547G>A (p.Val1183Met)
|
rs762235200
|
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.3904C>T (p.Arg1302Cys)
|
rs759509511
|
0.00001
|
NM_020919.4(ALS2):c.3989G>A (p.Arg1330His)
|
rs766208922
|
0.00001
|
NM_020919.4(ALS2):c.4022G>A (p.Arg1341His)
|
rs761291489
|
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.4581-3T>C
|
rs766074258
|
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.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.575C>T (p.Pro192Leu)
|
rs778003334
|
0.00001
|
NM_020919.4(ALS2):c.602G>A (p.Arg201Gln)
|
rs1476737735
|
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
|
|
|
NM_020919.4(ALS2):c.1009C>A (p.Pro337Thr)
|
|
|
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.111C>G (p.Gly37=)
|
rs2106102416
|
|
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.1196G>A (p.Cys399Tyr)
|
|
|
NM_020919.4(ALS2):c.1204G>A (p.Ala402Thr)
|
|
|
NM_020919.4(ALS2):c.1241G>A (p.Gly414Asp)
|
rs1559079541
|
|
NM_020919.4(ALS2):c.1250C>T (p.Ser417Leu)
|
|
|
NM_020919.4(ALS2):c.1256A>T (p.Lys419Met)
|
rs2106080408
|
|
NM_020919.4(ALS2):c.1319C>G (p.Ala440Gly)
|
|
|
NM_020919.4(ALS2):c.131T>C (p.Leu44Ser)
|
|
|
NM_020919.4(ALS2):c.1325G>C (p.Gly442Ala)
|
rs780750146
|
|
NM_020919.4(ALS2):c.1348A>T (p.Arg450Trp)
|
|
|
NM_020919.4(ALS2):c.1414G>A (p.Glu472Lys)
|
|
|
NM_020919.4(ALS2):c.1439G>A (p.Arg480Gln)
|
rs762706628
|
|
NM_020919.4(ALS2):c.1471+3A>G
|
rs2106079904
|
|
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.162TCT[1] (p.Leu56del)
|
rs1320134230
|
|
NM_020919.4(ALS2):c.163C>T (p.Leu55Phe)
|
|
|
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>G (p.Ile562Met)
|
|
|
NM_020919.4(ALS2):c.169A>G (p.Thr57Ala)
|
rs2106102252
|
|
NM_020919.4(ALS2):c.1819A>G (p.Ser607Gly)
|
|
|
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.1919G>A (p.Arg640Gln)
|
|
|
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.197G>A (p.Gly66Glu)
|
|
|
NM_020919.4(ALS2):c.1998+4A>G
|
rs773142036
|
|
NM_020919.4(ALS2):c.2024C>G (p.Ala675Gly)
|
rs201232912
|
|
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.2117A>G (p.Tyr706Cys)
|
|
|
NM_020919.4(ALS2):c.215G>A (p.Ser72Asn)
|
rs2106090137
|
|
NM_020919.4(ALS2):c.2171-3T>C
|
rs1250880797
|
|
NM_020919.4(ALS2):c.2186C>A (p.Thr729Lys)
|
|
|
NM_020919.4(ALS2):c.218G>A (p.Gly73Glu)
|
rs754181704
|
|
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.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.2430T>G (p.Asn810Lys)
|
rs1691694793
|
|
NM_020919.4(ALS2):c.2479A>G (p.Thr827Ala)
|
rs202219507
|
|
NM_020919.4(ALS2):c.2521A>G (p.Ile841Val)
|
|
|
NM_020919.4(ALS2):c.2525G>C (p.Arg842Thr)
|
|
|
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.2581-5T>A
|
rs1171928153
|
|
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.2712+5G>A
|
|
|
NM_020919.4(ALS2):c.2756G>C (p.Ser919Thr)
|
rs2106011572
|
|
NM_020919.4(ALS2):c.2875C>A (p.Leu959Met)
|
rs1553506293
|
|
NM_020919.4(ALS2):c.2923A>G (p.Lys975Glu)
|
|
|
NM_020919.4(ALS2):c.2926A>G (p.Ile976Val)
|
|
|
NM_020919.4(ALS2):c.2979G>A (p.Lys993=)
|
rs1559050770
|
|
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.3046C>A (p.Pro1016Thr)
|
|
|
NM_020919.4(ALS2):c.3047C>A (p.Pro1016His)
|
|
|
NM_020919.4(ALS2):c.3053G>A (p.Gly1018Glu)
|
rs2106006781
|
|
NM_020919.4(ALS2):c.3085C>T (p.Pro1029Ser)
|
rs377400784
|
|
NM_020919.4(ALS2):c.3095G>A (p.Arg1032His)
|
|
|
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.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.3271A>T (p.Asn1091Tyr)
|
|
|
NM_020919.4(ALS2):c.3381T>A (p.Phe1127Leu)
|
rs2106001346
|
|
NM_020919.4(ALS2):c.3394C>A (p.Arg1132Ser)
|
|
|
NM_020919.4(ALS2):c.3442_3444del (p.Pro1148del)
|
rs2106001109
|
|
NM_020919.4(ALS2):c.3449T>A (p.Met1150Lys)
|
rs747308306
|
|
NM_020919.4(ALS2):c.3512+6G>A
|
|
|
NM_020919.4(ALS2):c.3513-7T>A
|
rs1237267302
|
|
NM_020919.4(ALS2):c.3534G>C (p.Met1178Ile)
|
|
|
NM_020919.4(ALS2):c.356CTG[1] (p.Ala120del)
|
|
|
NM_020919.4(ALS2):c.3602A>C (p.Asn1201Thr)
|
|
|
NM_020919.4(ALS2):c.3624+3G>C
|
rs2105998722
|
|
NM_020919.4(ALS2):c.3624+6T>C
|
rs886823785
|
|
NM_020919.4(ALS2):c.3653A>G (p.Asp1218Gly)
|
rs2105998170
|
|
NM_020919.4(ALS2):c.3666A>T (p.Glu1222Asp)
|
|
|
NM_020919.4(ALS2):c.3692T>A (p.Leu1231His)
|
|
|
NM_020919.4(ALS2):c.3785C>T (p.Thr1262Ile)
|
rs1553503506
|
|
NM_020919.4(ALS2):c.3797C>G (p.Pro1266Arg)
|
|
|
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.3836+3G>A
|
rs2105987125
|
|
NM_020919.4(ALS2):c.3860_3865del (p.Val1287_Pro1288del)
|
rs759145161
|
|
NM_020919.4(ALS2):c.3884C>T (p.Ala1295Val)
|
|
|
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+6T>A
|
rs1553502811
|
|
NM_020919.4(ALS2):c.4022G>T (p.Arg1341Leu)
|
rs761291489
|
|
NM_020919.4(ALS2):c.409G>A (p.Val137Ile)
|
|
|
NM_020919.4(ALS2):c.4141C>T (p.His1381Tyr)
|
rs1574665478
|
|
NM_020919.4(ALS2):c.4150G>A (p.Gly1384Ser)
|
|
|
NM_020919.4(ALS2):c.4181A>G (p.Tyr1394Cys)
|
|
|
NM_020919.4(ALS2):c.4201G>A (p.Val1401Ile)
|
|
|
NM_020919.4(ALS2):c.4243A>G (p.Ile1415Val)
|
|
|
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.4333C>G (p.Pro1445Ala)
|
rs1559032116
|
|
NM_020919.4(ALS2):c.4363A>G (p.Thr1455Ala)
|
|
|
NM_020919.4(ALS2):c.4396G>A (p.Glu1466Lys)
|
|
|
NM_020919.4(ALS2):c.4399C>G (p.Pro1467Ala)
|
rs180758472
|
|
NM_020919.4(ALS2):c.4436C>G (p.Pro1479Arg)
|
rs769600851
|
|
NM_020919.4(ALS2):c.4478A>C (p.Tyr1493Ser)
|
rs1689754943
|
|
NM_020919.4(ALS2):c.4536T>G (p.Asn1512Lys)
|
|
|
NM_020919.4(ALS2):c.4567C>T (p.Leu1523Phe)
|
|
|
NM_020919.4(ALS2):c.4591C>G (p.Pro1531Ala)
|
|
|
NM_020919.4(ALS2):c.4626+6G>A
|
rs931003947
|
|
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.469T>G (p.Cys157Gly)
|
rs1693768160
|
|
NM_020919.4(ALS2):c.4708G>C (p.Asp1570His)
|
|
|
NM_020919.4(ALS2):c.4751A>T (p.Gln1584Leu)
|
|
|
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.4858G>A (p.Glu1620Lys)
|
rs1559027755
|
|
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.4910A>G (p.Gln1637Arg)
|
rs1290433006
|
|
NM_020919.4(ALS2):c.4936-1G>C
|
|
|
NM_020919.4(ALS2):c.514T>G (p.Trp172Gly)
|
rs2106089188
|
|
NM_020919.4(ALS2):c.533G>T (p.Cys178Phe)
|
|
|
NM_020919.4(ALS2):c.653A>G (p.Gln218Arg)
|
|
|
NM_020919.4(ALS2):c.661C>T (p.Pro221Ser)
|
|
|
NM_020919.4(ALS2):c.676A>G (p.Lys226Glu)
|
|
|
NM_020919.4(ALS2):c.71A>G (p.Gln24Arg)
|
rs947112051
|
|
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.784A>G (p.Thr262Ala)
|
|
|
NM_020919.4(ALS2):c.845C>T (p.Thr282Ile)
|
|
|
NM_020919.4(ALS2):c.848T>G (p.Leu283Arg)
|
|
|
NM_020919.4(ALS2):c.878C>T (p.Thr293Ile)
|
rs537187775
|
|
NM_020919.4(ALS2):c.881T>C (p.Leu294Pro)
|
|
|
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.929C>T (p.Ala310Val)
|
|
|
NM_020919.4(ALS2):c.92C>T (p.Thr31Ile)
|
|
|
NM_020919.4(ALS2):c.938C>G (p.Thr313Arg)
|
|
|