NM_198576.4(AGRN):c.4840G>A (p.Glu1614Lys)
|
rs147259096
|
0.00113
|
NM_198576.4(AGRN):c.4343C>T (p.Pro1448Leu)
|
rs200232485
|
0.00099
|
NM_198576.4(AGRN):c.5C>A (p.Ala2Asp)
|
rs776698665
|
0.00096
|
NM_144988.4(ALG14):c.182A>G (p.Asn61Ser)
|
rs138996965
|
0.00061
|
NM_198576.4(AGRN):c.2987C>A (p.Ala996Glu)
|
rs148475305
|
0.00057
|
NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys)
|
rs56393253
|
0.00054
|
NM_198576.4(AGRN):c.3575G>A (p.Arg1192Gln)
|
rs200339732
|
0.00053
|
NM_001171613.2(PREPL):c.1844A>G (p.Lys615Arg)
|
rs138348037
|
0.00049
|
NM_001171613.2(PREPL):c.450A>C (p.Lys150Asn)
|
rs142981913
|
0.00049
|
NM_000747.3(CHRNB1):c.229G>A (p.Val77Met)
|
rs140556296
|
0.00047
|
NM_198576.4(AGRN):c.726C>T (p.Cys242=)
|
rs369344193
|
0.00046
|
NM_002334.4(LRP4):c.5182A>G (p.Ile1728Val)
|
rs148865136
|
0.00045
|
NM_198576.4(AGRN):c.4633G>A (p.Val1545Met)
|
rs369276144
|
0.00044
|
NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr)
|
rs146931108
|
0.00042
|
NM_002334.4(LRP4):c.3407G>A (p.Arg1136Gln)
|
rs61736853
|
0.00042
|
NM_002334.4(LRP4):c.4699A>T (p.Arg1567Trp)
|
rs199747378
|
0.00041
|
NM_002334.4(LRP4):c.5558G>A (p.Ser1853Asn)
|
rs139535571
|
0.00041
|
NM_005677.4(COLQ):c.1074+4C>T
|
rs201227079
|
0.00041
|
NM_001171613.2(PREPL):c.1542A>C (p.Glu514Asp)
|
rs138237715
|
0.00039
|
NM_002334.4(LRP4):c.4936C>T (p.Arg1646Trp)
|
rs141213903
|
0.00038
|
NM_005677.4(COLQ):c.242A>G (p.Asn81Ser)
|
rs777215134
|
0.00038
|
NM_173660.5(DOK7):c.577A>G (p.Ser193Gly)
|
rs139133047
|
0.00038
|
NM_198576.4(AGRN):c.1996C>G (p.Gln666Glu)
|
rs138977015
|
0.00038
|
NM_198576.4(AGRN):c.2309C>T (p.Pro770Leu)
|
rs113017128
|
0.00038
|
NM_002334.4(LRP4):c.1832G>A (p.Arg611His)
|
rs140282454
|
0.00036
|
NM_173660.5(DOK7):c.1225C>T (p.Arg409Cys)
|
rs199606134
|
0.00036
|
NM_198576.4(AGRN):c.2536C>T (p.Pro846Ser)
|
rs138248828
|
0.00035
|
NM_005677.4(COLQ):c.391A>G (p.Lys131Glu)
|
rs142980906
|
0.00034
|
NM_198576.4(AGRN):c.698G>T (p.Arg233Leu)
|
rs532795042
|
0.00032
|
NM_001171613.2(PREPL):c.562G>A (p.Val188Met)
|
rs150341120
|
0.00031
|
NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr)
|
rs375679649
|
0.00029
|
NM_173660.5(DOK7):c.1425G>T (p.Trp475Cys)
|
rs777626370
|
0.00029
|
NM_198576.4(AGRN):c.172G>A (p.Asp58Asn)
|
rs750933418
|
0.00029
|
NM_198576.4(AGRN):c.2496C>G (p.Asn832Lys)
|
rs142252759
|
0.00029
|
NM_001171613.2(PREPL):c.-49+1881A>G
|
rs199938599
|
0.00028
|
NM_021815.5(SLC5A7):c.1177A>G (p.Thr393Ala)
|
rs75427357
|
0.00026
|
NM_173660.5(DOK7):c.32T>C (p.Val11Ala)
|
rs375168516
|
0.00026
|
NM_198576.4(AGRN):c.1540G>A (p.Glu514Lys)
|
rs143976046
|
0.00026
|
NM_000080.4(CHRNE):c.46+5G>A
|
rs375802288
|
0.00025
|
NM_002334.4(LRP4):c.505G>A (p.Gly169Ser)
|
rs201585639
|
0.00025
|
NM_000747.3(CHRNB1):c.340G>A (p.Val114Met)
|
rs149433073
|
0.00024
|
NM_002334.4(LRP4):c.1130A>G (p.Gln377Arg)
|
rs139006210
|
0.00024
|
NM_198576.4(AGRN):c.3256G>A (p.Glu1086Lys)
|
rs141217865
|
0.00024
|
NM_005592.4(MUSK):c.1099C>T (p.Arg367Trp)
|
rs201014623
|
0.00023
|
NM_005677.4(COLQ):c.737G>C (p.Gly246Ala)
|
rs146687198
|
0.00023
|
NM_198576.4(AGRN):c.2002G>A (p.Glu668Lys)
|
rs199801106
|
0.00023
|
NM_020549.5(CHAT):c.1511+5G>A
|
rs371888779
|
0.00022
|
NM_033087.4(ALG2):c.472C>A (p.Pro158Thr)
|
rs140382423
|
0.00022
|
NM_198576.4(AGRN):c.2950G>A (p.Val984Met)
|
rs371483148
|
0.00022
|
NM_198576.4(AGRN):c.4967G>A (p.Arg1656Gln)
|
rs374905300
|
0.00021
|
NM_002334.4(LRP4):c.3752C>T (p.Pro1251Leu)
|
rs145422541
|
0.00020
|
NM_021815.5(SLC5A7):c.1645C>A (p.Gln549Lys)
|
rs1280034815
|
0.00020
|
NM_198576.4(AGRN):c.3803G>A (p.Gly1268Glu)
|
rs755427684
|
0.00020
|
NM_198576.4(AGRN):c.523A>G (p.Met175Val)
|
rs575663792
|
0.00020
|
NM_001382.4(DPAGT1):c.1201C>T (p.Leu401Phe)
|
rs150532554
|
0.00019
|
NM_002334.4(LRP4):c.539A>G (p.Glu180Gly)
|
rs201957426
|
0.00019
|
NM_033087.4(ALG2):c.399C>G (p.Ile133Met)
|
rs371772900
|
0.00019
|
NM_198576.4(AGRN):c.1864C>T (p.Arg622Trp)
|
rs142143178
|
0.00019
|
NM_002334.4(LRP4):c.2992C>T (p.Arg998Cys)
|
rs61749460
|
0.00017
|
NM_021815.5(SLC5A7):c.1306G>A (p.Val436Met)
|
rs148535388
|
0.00017
|
NM_173660.5(DOK7):c.1090C>T (p.Arg364Trp)
|
rs577156980
|
0.00017
|
NM_198576.4(AGRN):c.4061C>A (p.Thr1354Asn)
|
rs766470739
|
0.00017
|
NM_002334.4(LRP4):c.695G>A (p.Arg232His)
|
rs370407081
|
0.00016
|
NM_005677.4(COLQ):c.788C>T (p.Pro263Leu)
|
rs146619514
|
0.00016
|
NM_144988.4(ALG14):c.98C>T (p.Pro33Leu)
|
rs200080963
|
0.00016
|
NM_198576.4(AGRN):c.1342C>T (p.Arg448Trp)
|
rs146770768
|
0.00016
|
NM_198576.4(AGRN):c.1460C>T (p.Ala487Val)
|
rs139302553
|
0.00016
|
NM_198576.4(AGRN):c.2666C>T (p.Ala889Val)
|
rs532395667
|
0.00016
|
NM_198576.4(AGRN):c.3764C>T (p.Ala1255Val)
|
rs137965991
|
0.00016
|
NM_198576.4(AGRN):c.3773C>T (p.Thr1258Met)
|
rs141842070
|
0.00016
|
NM_198576.4(AGRN):c.3958G>A (p.Gly1320Arg)
|
rs780180385
|
0.00016
|
NM_001244710.2(GFPT1):c.236T>C (p.Met79Thr)
|
rs142871135
|
0.00015
|
NM_005677.4(COLQ):c.1018C>T (p.Arg340Cys)
|
rs138818971
|
0.00015
|
NM_020549.5(CHAT):c.1511G>A (p.Arg504Gln)
|
rs200335347
|
0.00015
|
NM_198576.4(AGRN):c.2515G>A (p.Asp839Asn)
|
rs148315419
|
0.00015
|
NM_198576.4(AGRN):c.643T>G (p.Ser215Ala)
|
rs764152471
|
0.00015
|
NM_000080.4(CHRNE):c.1327-3C>T
|
rs749489742
|
0.00014
|
NM_000080.4(CHRNE):c.896T>C (p.Leu299Pro)
|
rs142735836
|
0.00014
|
NM_001171613.2(PREPL):c.1849C>G (p.Leu617Val)
|
rs150477781
|
0.00014
|
NM_001244710.2(GFPT1):c.716G>A (p.Arg239Gln)
|
rs555854564
|
0.00014
|
NM_002334.4(LRP4):c.1700C>T (p.Thr567Ile)
|
rs143885233
|
0.00014
|
NM_002334.4(LRP4):c.4594G>C (p.Val1532Leu)
|
rs147609642
|
0.00014
|
NM_002334.4(LRP4):c.605G>A (p.Arg202His)
|
rs149056824
|
0.00014
|
NM_005592.4(MUSK):c.680C>A (p.Ser227Tyr)
|
rs374657556
|
0.00014
|
NM_021815.5(SLC5A7):c.1549G>A (p.Val517Ile)
|
rs773393717
|
0.00014
|
NM_033087.4(ALG2):c.217G>C (p.Asp73His)
|
rs375634924
|
0.00014
|
NM_198576.4(AGRN):c.2737G>A (p.Val913Met)
|
rs140120617
|
0.00014
|
NM_198576.4(AGRN):c.3166G>A (p.Ala1056Thr)
|
rs201651738
|
0.00014
|
NM_198576.4(AGRN):c.3950G>A (p.Arg1317His)
|
rs376518159
|
0.00014
|
NM_198576.4(AGRN):c.4513G>A (p.Val1505Met)
|
rs372918766
|
0.00014
|
NM_198576.4(AGRN):c.5308G>A (p.Asp1770Asn)
|
rs141464249
|
0.00014
|
NM_000080.4(CHRNE):c.1042G>A (p.Glu348Lys)
|
rs757968612
|
0.00013
|
NM_000747.3(CHRNB1):c.167T>C (p.Val56Ala)
|
rs759668768
|
0.00013
|
NM_002334.4(LRP4):c.1769G>A (p.Arg590His)
|
rs149435615
|
0.00013
|
NM_005677.4(COLQ):c.1087T>C (p.Tyr363His)
|
rs756508281
|
0.00013
|
NM_020549.5(CHAT):c.740C>T (p.Ala247Val)
|
rs561562136
|
0.00013
|
NM_173660.5(DOK7):c.1346C>T (p.Thr449Met)
|
rs373864257
|
0.00013
|
NM_173660.5(DOK7):c.596T>G (p.Ile199Ser)
|
rs148650015
|
0.00013
|
NM_173660.5(DOK7):c.752C>T (p.Ala251Val)
|
rs376251309
|
0.00013
|
NM_198576.4(AGRN):c.1384+6C>T
|
rs763495287
|
0.00013
|
NM_198576.4(AGRN):c.3697C>T (p.Arg1233Trp)
|
rs147673996
|
0.00013
|
NM_198576.4(AGRN):c.6068G>T (p.Gly2023Val)
|
rs374160610
|
0.00013
|
NM_001171613.2(PREPL):c.1726G>A (p.Ala576Thr)
|
rs145230776
|
0.00012
|
NM_001171613.2(PREPL):c.1727C>T (p.Ala576Val)
|
rs202130215
|
0.00012
|
NM_001244710.2(GFPT1):c.124T>G (p.Phe42Val)
|
rs948398303
|
0.00012
|
NM_001382.4(DPAGT1):c.496+3A>G
|
rs565154071
|
0.00012
|
NM_144988.4(ALG14):c.532G>A (p.Val178Ile)
|
rs373069354
|
0.00012
|
NM_198576.4(AGRN):c.1513G>A (p.Asp505Asn)
|
rs147081710
|
0.00012
|
NM_198576.4(AGRN):c.5738C>T (p.Thr1913Met)
|
rs201604787
|
0.00012
|
NM_000080.4(CHRNE):c.1183T>G (p.Phe395Val)
|
rs755802710
|
0.00011
|
NM_002334.4(LRP4):c.4274G>A (p.Arg1425Gln)
|
rs143444937
|
0.00011
|
NM_002334.4(LRP4):c.472G>A (p.Gly158Arg)
|
rs193247849
|
0.00011
|
NM_002334.4(LRP4):c.788G>A (p.Arg263His)
|
rs149906323
|
0.00011
|
NM_005592.4(MUSK):c.1516A>G (p.Ile506Val)
|
rs191581729
|
0.00011
|
NM_005677.4(COLQ):c.1155G>C (p.Glu385Asp)
|
rs116503231
|
0.00011
|
NM_005677.4(COLQ):c.812C>T (p.Ala271Val)
|
rs373735085
|
0.00011
|
NM_020549.5(CHAT):c.1977+4C>T
|
rs200116201
|
0.00011
|
NM_020549.5(CHAT):c.866C>T (p.Thr289Met)
|
rs139352363
|
0.00011
|
NM_173660.5(DOK7):c.931A>G (p.Met311Val)
|
rs752949999
|
0.00011
|
NM_173660.5(DOK7):c.971C>T (p.Pro324Leu)
|
rs546889092
|
0.00011
|
NM_198576.4(AGRN):c.149C>T (p.Thr50Met)
|
rs767809484
|
0.00011
|
NM_198576.4(AGRN):c.3161C>T (p.Ala1054Val)
|
rs377535426
|
0.00011
|
NM_198576.4(AGRN):c.4517C>T (p.Ala1506Val)
|
rs373657385
|
0.00011
|
NM_198576.4(AGRN):c.4879+4G>A
|
rs746457706
|
0.00011
|
NM_000747.3(CHRNB1):c.59-3C>T
|
rs372041531
|
0.00010
|
NM_001171613.2(PREPL):c.1619T>C (p.Ile540Thr)
|
rs201400293
|
0.00010
|
NM_001171613.2(PREPL):c.1747G>C (p.Gly583Arg)
|
rs758234210
|
0.00010
|
NM_002334.4(LRP4):c.1432C>T (p.Arg478Cys)
|
rs146660159
|
0.00010
|
NM_002334.4(LRP4):c.3980G>A (p.Arg1327Gln)
|
rs146372809
|
0.00010
|
NM_005592.4(MUSK):c.1061C>T (p.Thr354Met)
|
rs200064775
|
0.00010
|
NM_005592.4(MUSK):c.979G>A (p.Ala327Thr)
|
rs776201930
|
0.00010
|
NM_020549.5(CHAT):c.1385C>T (p.Thr462Met)
|
rs538478136
|
0.00010
|
NM_020549.5(CHAT):c.284C>A (p.Ala95Glu)
|
rs977117524
|
0.00010
|
NM_033087.4(ALG2):c.232G>C (p.Gly78Arg)
|
rs1054683823
|
0.00010
|
NM_173660.5(DOK7):c.1354C>T (p.Arg452Trp)
|
rs375116985
|
0.00010
|
NM_198576.4(AGRN):c.183G>C (p.Gln61His)
|
rs951245406
|
0.00010
|
NM_198576.4(AGRN):c.3925C>T (p.Arg1309Trp)
|
rs564635058
|
0.00010
|
NM_198576.4(AGRN):c.4976+3C>T
|
rs113681205
|
0.00010
|
NM_198576.4(AGRN):c.5326C>T (p.Arg1776Cys)
|
rs146978562
|
0.00010
|
NM_000747.3(CHRNB1):c.500T>C (p.Met167Thr)
|
rs1284035468
|
0.00009
|
NM_001171613.2(PREPL):c.1868T>A (p.Leu623His)
|
rs746165384
|
0.00009
|
NM_001382.4(DPAGT1):c.1154T>G (p.Leu385Arg)
|
rs1016844949
|
0.00009
|
NM_002334.4(LRP4):c.1153C>T (p.Arg385Trp)
|
rs200623154
|
0.00009
|
NM_002334.4(LRP4):c.2980G>A (p.Val994Ile)
|
rs370091369
|
0.00009
|
NM_002334.4(LRP4):c.3073G>C (p.Gly1025Arg)
|
rs141565454
|
0.00009
|
NM_002334.4(LRP4):c.5489G>A (p.Arg1830Gln)
|
rs146864522
|
0.00009
|
NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly)
|
rs377204138
|
0.00009
|
NM_002334.4(LRP4):c.70G>A (p.Glu24Lys)
|
rs200465829
|
0.00009
|
NM_005055.5(RAPSN):c.928G>A (p.Glu310Lys)
|
rs367565995
|
0.00009
|
NM_005592.4(MUSK):c.2520C>A (p.Ser840Arg)
|
rs768074747
|
0.00009
|
NM_005677.4(COLQ):c.117C>A (p.Ser39Arg)
|
rs138891500
|
0.00009
|
NM_020549.5(CHAT):c.1635-3C>G
|
rs761868634
|
0.00009
|
NM_021815.5(SLC5A7):c.1453G>A (p.Val485Ile)
|
rs754211137
|
0.00009
|
NM_021815.5(SLC5A7):c.1643G>A (p.Arg548Gln)
|
rs199864231
|
0.00009
|
NM_033087.4(ALG2):c.1226G>A (p.Arg409Gln)
|
rs369231996
|
0.00009
|
NM_033087.4(ALG2):c.968G>T (p.Ser323Ile)
|
rs373454393
|
0.00009
|
NM_144988.4(ALG14):c.181A>G (p.Asn61Asp)
|
rs577399329
|
0.00009
|
NM_173660.5(DOK7):c.1403G>A (p.Gly468Asp)
|
rs767909551
|
0.00009
|
NM_173660.5(DOK7):c.1503C>A (p.Asn501Lys)
|
rs750262940
|
0.00009
|
NM_173660.5(DOK7):c.838C>T (p.Arg280Trp)
|
rs139573161
|
0.00009
|
NM_173660.5(DOK7):c.932T>C (p.Met311Thr)
|
rs763124567
|
0.00009
|
NM_198576.4(AGRN):c.1343G>A (p.Arg448Gln)
|
rs772102866
|
0.00009
|
NM_198576.4(AGRN):c.2241G>C (p.Gln747His)
|
rs144361725
|
0.00009
|
NM_198576.4(AGRN):c.2306C>T (p.Thr769Met)
|
rs148837216
|
0.00009
|
NM_198576.4(AGRN):c.245G>A (p.Arg82Gln)
|
rs368144442
|
0.00009
|
NM_198576.4(AGRN):c.2651G>A (p.Arg884His)
|
rs369686860
|
0.00009
|
NM_198576.4(AGRN):c.2971C>T (p.Leu991Phe)
|
rs749588875
|
0.00009
|
NM_198576.4(AGRN):c.4090G>A (p.Ala1364Thr)
|
rs375639071
|
0.00009
|
NM_198576.4(AGRN):c.4178C>T (p.Thr1393Met)
|
rs766462843
|
0.00009
|
NM_198576.4(AGRN):c.4393C>T (p.Arg1465Trp)
|
rs149011678
|
0.00009
|
NM_198576.4(AGRN):c.4477C>T (p.Leu1493Phe)
|
rs138526997
|
0.00009
|
NM_000080.4(CHRNE):c.1051C>T (p.Pro351Ser)
|
rs964034772
|
0.00008
|
NM_000080.4(CHRNE):c.820A>G (p.Thr274Ala)
|
rs774407731
|
0.00008
|
NM_000747.3(CHRNB1):c.243+18G>T
|
rs369504006
|
0.00008
|
NM_001171613.2(PREPL):c.1783A>T (p.Ile595Phe)
|
rs200605467
|
0.00008
|
NM_001171613.2(PREPL):c.329T>C (p.Phe110Ser)
|
rs777176046
|
0.00008
|
NM_001244710.2(GFPT1):c.1597+5A>G
|
rs373420002
|
0.00008
|
NM_001244710.2(GFPT1):c.805G>A (p.Glu269Lys)
|
rs536572222
|
0.00008
|
NM_002334.4(LRP4):c.2476G>A (p.Val826Ile)
|
rs142660660
|
0.00008
|
NM_002334.4(LRP4):c.3940G>A (p.Gly1314Ser)
|
rs371961330
|
0.00008
|
NM_002334.4(LRP4):c.4183G>A (p.Val1395Met)
|
rs774275092
|
0.00008
|
NM_005055.5(RAPSN):c.775C>T (p.Arg259Cys)
|
rs150207592
|
0.00008
|
NM_005592.4(MUSK):c.1942G>A (p.Gly648Arg)
|
rs201291910
|
0.00008
|
NM_005592.4(MUSK):c.2287G>A (p.Ala763Thr)
|
rs199507468
|
0.00008
|
NM_005677.4(COLQ):c.1117G>A (p.Gly373Ser)
|
rs202019416
|
0.00008
|
NM_005677.4(COLQ):c.367-3T>C
|
rs368112392
|
0.00008
|
NM_005677.4(COLQ):c.61G>A (p.Val21Met)
|
rs142115188
|
0.00008
|
NM_033087.4(ALG2):c.389G>A (p.Arg130Gln)
|
rs143625172
|
0.00008
|
NM_144988.4(ALG14):c.83C>A (p.Ser28Tyr)
|
rs201827828
|
0.00008
|
NM_173660.5(DOK7):c.1084G>A (p.Val362Met)
|
rs760157322
|
0.00008
|
NM_173660.5(DOK7):c.1230C>A (p.Ser410Arg)
|
rs200593935
|
0.00008
|
NM_173660.5(DOK7):c.1373C>A (p.Ala458Asp)
|
rs778440478
|
0.00008
|
NM_173660.5(DOK7):c.1388A>G (p.Glu463Gly)
|
rs769974159
|
0.00008
|
NM_173660.5(DOK7):c.214G>A (p.Glu72Lys)
|
rs770653049
|
0.00008
|
NM_173660.5(DOK7):c.688C>T (p.Arg230Cys)
|
rs202077864
|
0.00008
|
NM_198576.4(AGRN):c.2093C>T (p.Ser698Leu)
|
rs565444145
|
0.00008
|
NM_198576.4(AGRN):c.2182G>A (p.Glu728Lys)
|
rs757879583
|
0.00008
|
NM_198576.4(AGRN):c.3034G>A (p.Ala1012Thr)
|
rs144781935
|
0.00008
|
NM_198576.4(AGRN):c.3830C>T (p.Ser1277Leu)
|
rs747114622
|
0.00008
|
NM_198576.4(AGRN):c.4924G>A (p.Gly1642Ser)
|
rs200051701
|
0.00008
|
NM_198576.4(AGRN):c.5753A>G (p.Tyr1918Cys)
|
rs779519955
|
0.00008
|
NM_198576.4(AGRN):c.905C>T (p.Ala302Val)
|
rs759162806
|
0.00008
|
NM_001171613.2(PREPL):c.508A>G (p.Thr170Ala)
|
rs560481380
|
0.00007
|
NM_001244710.2(GFPT1):c.362T>C (p.Ile121Thr)
|
rs753866967
|
0.00007
|
NM_001382.4(DPAGT1):c.484C>A (p.His162Asn)
|
rs542516384
|
0.00007
|
NM_002334.4(LRP4):c.1288C>T (p.Arg430Trp)
|
rs140528156
|
0.00007
|
NM_002334.4(LRP4):c.3277+5G>T
|
rs374900441
|
0.00007
|
NM_002334.4(LRP4):c.5054G>A (p.Arg1685Gln)
|
rs138238230
|
0.00007
|
NM_021815.5(SLC5A7):c.1081C>T (p.Arg361Trp)
|
rs376624433
|
0.00007
|
NM_033087.4(ALG2):c.1054_1055insTGA (p.Ser352delinsLeuThr)
|
rs763662395
|
0.00007
|
NM_130811.4(SNAP25):c.23G>A (p.Arg8His)
|
rs374115269
|
0.00007
|
NM_144988.4(ALG14):c.136+1G>C
|
rs150550220
|
0.00007
|
NM_173660.5(DOK7):c.1457C>T (p.Pro486Leu)
|
rs200015934
|
0.00007
|
NM_198576.4(AGRN):c.1865G>A (p.Arg622Gln)
|
rs140789461
|
0.00007
|
NM_198576.4(AGRN):c.3387C>T (p.Pro1129=)
|
rs758046832
|
0.00007
|
NM_198576.4(AGRN):c.3673C>T (p.Arg1225Trp)
|
rs754771889
|
0.00007
|
NM_198576.4(AGRN):c.3685G>C (p.Val1229Leu)
|
rs528146665
|
0.00007
|
NM_198576.4(AGRN):c.4138C>T (p.Arg1380Cys)
|
rs747790893
|
0.00007
|
NM_198576.4(AGRN):c.4526G>A (p.Arg1509Gln)
|
rs371477631
|
0.00007
|
NM_198576.4(AGRN):c.5107C>T (p.Arg1703Cys)
|
rs151104255
|
0.00007
|
NM_000080.4(CHRNE):c.1115C>T (p.Ala372Val)
|
rs912512352
|
0.00006
|
NM_000080.4(CHRNE):c.1262G>A (p.Arg421His)
|
rs144952259
|
0.00006
|
NM_000080.4(CHRNE):c.1345C>T (p.Arg449Cys)
|
rs149083639
|
0.00006
|
NM_000080.4(CHRNE):c.406G>A (p.Val136Met)
|
rs773822199
|
0.00006
|
NM_000747.3(CHRNB1):c.598G>A (p.Gly200Arg)
|
rs149981394
|
0.00006
|
NM_000747.3(CHRNB1):c.694C>A (p.Arg232Ser)
|
rs751294067
|
0.00006
|
NM_000747.3(CHRNB1):c.728G>A (p.Arg243His)
|
rs200409941
|
0.00006
|
NM_001171613.2(PREPL):c.1289G>C (p.Trp430Ser)
|
rs760033510
|
0.00006
|
NM_001171613.2(PREPL):c.1510A>T (p.Met504Leu)
|
rs369887158
|
0.00006
|
NM_001171613.2(PREPL):c.364G>A (p.Glu122Lys)
|
rs147671673
|
0.00006
|
NM_001171613.2(PREPL):c.659A>C (p.Glu220Ala)
|
rs370146295
|
0.00006
|
NM_001244710.2(GFPT1):c.229C>A (p.Gln77Lys)
|
rs143036820
|
0.00006
|
NM_001382.4(DPAGT1):c.671C>T (p.Ser224Phe)
|
rs751590922
|
0.00006
|
NM_002334.4(LRP4):c.1055G>A (p.Arg352Gln)
|
rs773234882
|
0.00006
|
NM_002334.4(LRP4):c.1369C>T (p.Arg457Cys)
|
rs148856658
|
0.00006
|
NM_002334.4(LRP4):c.5309G>A (p.Arg1770Gln)
|
rs150211735
|
0.00006
|
NM_002334.4(LRP4):c.5513G>A (p.Arg1838Gln)
|
rs770309253
|
0.00006
|
NM_002334.4(LRP4):c.5626G>A (p.Val1876Ile)
|
rs761403316
|
0.00006
|
NM_002334.4(LRP4):c.676+4A>G
|
rs759630167
|
0.00006
|
NM_002334.4(LRP4):c.826C>T (p.Arg276Cys)
|
rs557300271
|
0.00006
|
NM_005592.4(MUSK):c.929A>C (p.Gln310Pro)
|
rs201804790
|
0.00006
|
NM_005677.4(COLQ):c.1019G>A (p.Arg340His)
|
rs375225755
|
0.00006
|
NM_005677.4(COLQ):c.1205G>A (p.Arg402His)
|
rs140670616
|
0.00006
|
NM_005677.4(COLQ):c.1355G>A (p.Arg452His)
|
rs754915644
|
0.00006
|
NM_005677.4(COLQ):c.707G>A (p.Arg236Gln)
|
rs200770910
|
0.00006
|
NM_005677.4(COLQ):c.785G>A (p.Arg262His)
|
rs201158622
|
0.00006
|
NM_005677.4(COLQ):c.944G>A (p.Arg315Gln)
|
rs778740405
|
0.00006
|
NM_020549.5(CHAT):c.1375A>G (p.Lys459Glu)
|
rs769398642
|
0.00006
|
NM_020549.5(CHAT):c.1460G>T (p.Cys487Phe)
|
rs201293521
|
0.00006
|
NM_020549.5(CHAT):c.580-5G>A
|
rs763339825
|
0.00006
|
NM_020549.5(CHAT):c.929A>G (p.Asn310Ser)
|
rs149976821
|
0.00006
|
NM_033087.4(ALG2):c.185A>G (p.Glu62Gly)
|
rs752153404
|
0.00006
|
NM_033087.4(ALG2):c.346C>G (p.Gln116Glu)
|
rs754476664
|
0.00006
|
NM_033087.4(ALG2):c.443A>G (p.Asp148Gly)
|
rs369670496
|
0.00006
|
NM_033087.4(ALG2):c.92G>C (p.Arg31Pro)
|
rs1279623882
|
0.00006
|
NM_033087.4(ALG2):c.934C>T (p.Leu312Phe)
|
rs147346291
|
0.00006
|
NM_144988.4(ALG14):c.179C>G (p.Ser60Cys)
|
rs780277809
|
0.00006
|
NM_144988.4(ALG14):c.422T>G (p.Val141Gly)
|
rs139005007
|
0.00006
|
NM_173660.5(DOK7):c.1133C>T (p.Ala378Val)
|
rs371846002
|
0.00006
|
NM_173660.5(DOK7):c.1393A>G (p.Thr465Ala)
|
rs765625554
|
0.00006
|
NM_173660.5(DOK7):c.1435G>A (p.Gly479Ser)
|
rs140519765
|
0.00006
|
NM_173660.5(DOK7):c.1483T>G (p.Cys495Gly)
|
rs775074100
|
0.00006
|
NM_173660.5(DOK7):c.155G>A (p.Arg52Gln)
|
rs201953114
|
0.00006
|
NM_173660.5(DOK7):c.229A>G (p.Thr77Ala)
|
rs759395609
|
0.00006
|
NM_173660.5(DOK7):c.327C>T (p.Gly109=)
|
rs377367035
|
0.00006
|
NM_173660.5(DOK7):c.922G>A (p.Gly308Arg)
|
rs759691572
|
0.00006
|
NM_173660.5(DOK7):c.973C>T (p.Arg325Trp)
|
rs376280466
|
0.00006
|
NM_173660.5(DOK7):c.974G>A (p.Arg325Gln)
|
rs750929473
|
0.00006
|
NM_198576.4(AGRN):c.1729G>A (p.Glu577Lys)
|
rs370516291
|
0.00006
|
NM_198576.4(AGRN):c.1945G>A (p.Ala649Thr)
|
rs555209196
|
0.00006
|
NM_198576.4(AGRN):c.2219G>A (p.Arg740Gln)
|
rs146863919
|
0.00006
|
NM_198576.4(AGRN):c.2473C>T (p.Arg825Cys)
|
rs370387335
|
0.00006
|
NM_198576.4(AGRN):c.3569G>A (p.Arg1190His)
|
rs149762107
|
0.00006
|
NM_198576.4(AGRN):c.3662G>A (p.Arg1221Gln)
|
rs764139323
|
0.00006
|
NM_198576.4(AGRN):c.3718C>T (p.Pro1240Ser)
|
rs768688185
|
0.00006
|
NM_198576.4(AGRN):c.3839C>T (p.Pro1280Leu)
|
rs774023993
|
0.00006
|
NM_198576.4(AGRN):c.4124C>T (p.Pro1375Leu)
|
rs750116279
|
0.00006
|
NM_198576.4(AGRN):c.4406C>T (p.Ser1469Leu)
|
rs200646795
|
0.00006
|
NM_198576.4(AGRN):c.4561C>T (p.Arg1521Cys)
|
rs550316749
|
0.00006
|
NM_198576.4(AGRN):c.4602T>G (p.Ile1534Met)
|
rs771367279
|
0.00006
|
NM_198576.4(AGRN):c.4735G>A (p.Gly1579Ser)
|
rs556296275
|
0.00006
|
NM_198576.4(AGRN):c.4786C>T (p.Pro1596Ser)
|
rs777910926
|
0.00006
|
NM_198576.4(AGRN):c.4871G>C (p.Cys1624Ser)
|
rs758206649
|
0.00006
|
NM_198576.4(AGRN):c.5056G>A (p.Gly1686Ser)
|
rs142783040
|
0.00006
|
NM_198576.4(AGRN):c.5075C>T (p.Ser1692Leu)
|
rs143143061
|
0.00006
|
NM_198576.4(AGRN):c.5216G>A (p.Arg1739His)
|
rs762052033
|
0.00006
|
NM_198576.4(AGRN):c.5416C>T (p.Arg1806Trp)
|
rs757150379
|
0.00006
|
NM_198576.4(AGRN):c.5674C>T (p.His1892Tyr)
|
rs201518881
|
0.00006
|
NM_198576.4(AGRN):c.5948C>T (p.Thr1983Met)
|
rs147569326
|
0.00006
|
NM_000080.4(CHRNE):c.1103C>T (p.Pro368Leu)
|
rs371919434
|
0.00005
|
NM_000080.4(CHRNE):c.1168C>T (p.Arg390Trp)
|
rs140763858
|
0.00005
|
NM_000747.3(CHRNB1):c.419G>T (p.Arg140Leu)
|
rs140086721
|
0.00005
|
NM_001171613.2(PREPL):c.-36G>A
|
rs147513483
|
0.00005
|
NM_001244710.2(GFPT1):c.1324+3G>A
|
rs367865496
|
0.00005
|
NM_002334.4(LRP4):c.1285G>A (p.Asp429Asn)
|
rs770279192
|
0.00005
|
NM_002334.4(LRP4):c.299C>T (p.Ser100Leu)
|
rs762837686
|
0.00005
|
NM_002334.4(LRP4):c.4898C>T (p.Ser1633Leu)
|
rs146362081
|
0.00005
|
NM_002334.4(LRP4):c.5653C>T (p.Arg1885Ter)
|
rs147138337
|
0.00005
|
NM_002334.4(LRP4):c.5672C>T (p.Thr1891Met)
|
rs372637156
|
0.00005
|
NM_005055.5(RAPSN):c.1066G>A (p.Val356Met)
|
rs570140663
|
0.00005
|
NM_005055.5(RAPSN):c.202G>A (p.Val68Ile)
|
rs200892332
|
0.00005
|
NM_005055.5(RAPSN):c.215C>T (p.Thr72Met)
|
rs770633491
|
0.00005
|
NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg)
|
rs150756111
|
0.00005
|
NM_005055.5(RAPSN):c.690+4G>A
|
rs201803329
|
0.00005
|
NM_005055.5(RAPSN):c.949G>A (p.Glu317Lys)
|
rs772054419
|
0.00005
|
NM_005592.4(MUSK):c.17A>G (p.Asn6Ser)
|
rs747203404
|
0.00005
|
NM_005592.4(MUSK):c.1847C>T (p.Ser616Leu)
|
rs181652070
|
0.00005
|
NM_005677.4(COLQ):c.1195C>T (p.Arg399Cys)
|
rs779594053
|
0.00005
|
NM_005677.4(COLQ):c.428C>A (p.Pro143His)
|
rs373840796
|
0.00005
|
NM_020549.5(CHAT):c.1142T>C (p.Ile381Thr)
|
rs372758559
|
0.00005
|
NM_020549.5(CHAT):c.1423A>T (p.Ser475Cys)
|
rs765549293
|
0.00005
|
NM_020549.5(CHAT):c.2139A>C (p.Glu713Asp)
|
rs771548584
|
0.00005
|
NM_021815.5(SLC5A7):c.466A>T (p.Ile156Phe)
|
rs763294235
|
0.00005
|
NM_033087.4(ALG2):c.368T>C (p.Val123Ala)
|
rs762560638
|
0.00005
|
NM_173660.5(DOK7):c.1219A>G (p.Thr407Ala)
|
rs377326004
|
0.00005
|
NM_173660.5(DOK7):c.314G>A (p.Arg105His)
|
rs776352781
|
0.00005
|
NM_173660.5(DOK7):c.54+8C>T
|
rs577687998
|
0.00005
|
NM_173660.5(DOK7):c.829G>A (p.Ala277Thr)
|
rs759117081
|
0.00005
|
NM_173660.5(DOK7):c.968G>A (p.Arg323His)
|
rs763188032
|
0.00005
|
NM_198576.4(AGRN):c.1271C>T (p.Ala424Val)
|
rs768774592
|
0.00005
|
NM_198576.4(AGRN):c.3074G>A (p.Arg1025Gln)
|
rs372696395
|
0.00005
|
NM_198576.4(AGRN):c.3910G>A (p.Ala1304Thr)
|
rs375590400
|
0.00005
|
NM_198576.4(AGRN):c.4286G>A (p.Arg1429His)
|
rs756082014
|
0.00005
|
NM_198576.4(AGRN):c.4586G>A (p.Arg1529His)
|
rs369873010
|
0.00005
|
NM_198576.4(AGRN):c.4883C>T (p.Ser1628Leu)
|
rs368849231
|
0.00005
|
NM_198576.4(AGRN):c.5210C>T (p.Ala1737Val)
|
rs374922434
|
0.00005
|
NM_198576.4(AGRN):c.5744G>A (p.Arg1915Gln)
|
rs150134229
|
0.00005
|
NM_198576.4(AGRN):c.5767A>G (p.Ile1923Val)
|
rs759500435
|
0.00005
|
NM_198576.4(AGRN):c.6022G>A (p.Ala2008Thr)
|
rs766962416
|
0.00005
|
NM_198576.4(AGRN):c.973C>T (p.Pro325Ser)
|
rs891174893
|
0.00005
|
NM_000080.4(CHRNE):c.1267T>A (p.Cys423Ser)
|
rs372515997
|
0.00004
|
NM_000080.4(CHRNE):c.1390G>A (p.Val464Met)
|
rs771016534
|
0.00004
|
NM_000080.4(CHRNE):c.598A>G (p.Thr200Ala)
|
rs1336284577
|
0.00004
|
NM_000080.4(CHRNE):c.781G>T (p.Ala261Ser)
|
rs762509943
|
0.00004
|
NM_000080.4(CHRNE):c.947C>T (p.Thr316Met)
|
rs146533655
|
0.00004
|
NM_000747.3(CHRNB1):c.1406G>T (p.Arg469Leu)
|
rs762250406
|
0.00004
|
NM_000747.3(CHRNB1):c.187C>G (p.Leu63Val)
|
rs761035556
|
0.00004
|
NM_000747.3(CHRNB1):c.286G>T (p.Asp96Tyr)
|
rs778968747
|
0.00004
|
NM_000747.3(CHRNB1):c.364A>C (p.Asn122His)
|
rs776217572
|
0.00004
|
NM_000747.3(CHRNB1):c.407A>G (p.Asp136Gly)
|
rs370702418
|
0.00004
|
NM_000747.3(CHRNB1):c.462+6C>T
|
rs780337044
|
0.00004
|
NM_000747.3(CHRNB1):c.82G>A (p.Gly28Ser)
|
rs761717412
|
0.00004
|
NM_001171613.2(PREPL):c.-49+1888G>A
|
rs575814799
|
0.00004
|
NM_001171613.2(PREPL):c.1066C>T (p.Arg356Cys)
|
rs201468991
|
0.00004
|
NM_001171613.2(PREPL):c.1084A>G (p.Lys362Glu)
|
rs146886697
|
0.00004
|
NM_001171613.2(PREPL):c.1105A>G (p.Met369Val)
|
rs182854421
|
0.00004
|
NM_001171613.2(PREPL):c.1150C>G (p.Pro384Ala)
|
rs780193886
|
0.00004
|
NM_001171613.2(PREPL):c.1642A>G (p.Ile548Val)
|
rs151116193
|
0.00004
|
NM_001171613.2(PREPL):c.1757A>G (p.Tyr586Cys)
|
rs142051325
|
0.00004
|
NM_001171613.2(PREPL):c.206T>C (p.Ile69Thr)
|
rs752887453
|
0.00004
|
NM_001171613.2(PREPL):c.283T>G (p.Cys95Gly)
|
rs569491440
|
0.00004
|
NM_001171613.2(PREPL):c.604C>T (p.Leu202Phe)
|
rs147910302
|
0.00004
|
NM_001171613.2(PREPL):c.716C>T (p.Ala239Val)
|
rs778761279
|
0.00004
|
NM_001171613.2(PREPL):c.968T>G (p.Ile323Arg)
|
rs926904705
|
0.00004
|
NM_001382.4(DPAGT1):c.728+6T>C
|
rs373170483
|
0.00004
|
NM_002334.4(LRP4):c.1054C>T (p.Arg352Trp)
|
rs148456240
|
0.00004
|
NM_002334.4(LRP4):c.1087G>A (p.Gly363Ser)
|
rs765602909
|
0.00004
|
NM_002334.4(LRP4):c.1309+6G>T
|
rs532952316
|
0.00004
|
NM_002334.4(LRP4):c.1481G>A (p.Arg494His)
|
rs777801967
|
0.00004
|
NM_002334.4(LRP4):c.2080C>T (p.Arg694Cys)
|
rs1323412236
|
0.00004
|
NM_002334.4(LRP4):c.2610C>T (p.Gly870=)
|
rs751431064
|
0.00004
|
NM_002334.4(LRP4):c.2738G>A (p.Gly913Glu)
|
rs376848284
|
0.00004
|
NM_002334.4(LRP4):c.2837C>G (p.Pro946Arg)
|
rs368880157
|
0.00004
|
NM_002334.4(LRP4):c.3035G>T (p.Gly1012Val)
|
rs748636802
|
0.00004
|
NM_002334.4(LRP4):c.3367C>A (p.Leu1123Ile)
|
rs763514608
|
0.00004
|
NM_002334.4(LRP4):c.3388G>A (p.Ala1130Thr)
|
rs142904009
|
0.00004
|
NM_002334.4(LRP4):c.3581G>A (p.Arg1194Gln)
|
rs369916883
|
0.00004
|
NM_002334.4(LRP4):c.5374T>C (p.Tyr1792His)
|
rs146542222
|
0.00004
|
NM_002334.4(LRP4):c.5540C>T (p.Thr1847Met)
|
rs375391856
|
0.00004
|
NM_002334.4(LRP4):c.761C>T (p.Ala254Val)
|
rs767281769
|
0.00004
|
NM_005055.5(RAPSN):c.1090G>A (p.Gly364Ser)
|
rs372865599
|
0.00004
|
NM_005055.5(RAPSN):c.1126C>T (p.Arg376Trp)
|
rs145507075
|
0.00004
|
NM_005055.5(RAPSN):c.140G>A (p.Gly47Asp)
|
rs201725858
|
0.00004
|
NM_005055.5(RAPSN):c.661C>T (p.Arg221Cys)
|
rs769989407
|
0.00004
|
NM_005055.5(RAPSN):c.667G>A (p.Gly223Ser)
|
rs138863694
|
0.00004
|
NM_005055.5(RAPSN):c.814G>A (p.Ala272Thr)
|
rs771749514
|
0.00004
|
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)
|
rs104894293
|
0.00004
|
NM_005055.5(RAPSN):c.889G>A (p.Val297Met)
|
rs369570812
|
0.00004
|
NM_005592.4(MUSK):c.1100G>A (p.Arg367Gln)
|
rs1038479586
|
0.00004
|
NM_005592.4(MUSK):c.2539C>A (p.Pro847Thr)
|
rs760757288
|
0.00004
|
NM_005592.4(MUSK):c.647G>A (p.Arg216Gln)
|
rs188464904
|
0.00004
|
NM_005592.4(MUSK):c.916T>C (p.Trp306Arg)
|
rs1319203200
|
0.00004
|
NM_005677.4(COLQ):c.1072C>G (p.Gln358Glu)
|
rs372064982
|
0.00004
|
NM_005677.4(COLQ):c.1282G>A (p.Glu428Lys)
|
rs141721093
|
0.00004
|
NM_005677.4(COLQ):c.133C>T (p.Arg45Cys)
|
rs763096476
|
0.00004
|
NM_005677.4(COLQ):c.164C>T (p.Thr55Met)
|
rs774271810
|
0.00004
|
NM_005677.4(COLQ):c.212G>A (p.Arg71Gln)
|
rs775959815
|
0.00004
|
NM_005677.4(COLQ):c.71C>T (p.Pro24Leu)
|
rs374642884
|
0.00004
|
NM_005677.4(COLQ):c.749C>T (p.Pro250Leu)
|
rs200479277
|
0.00004
|
NM_005677.4(COLQ):c.794C>T (p.Pro265Leu)
|
rs1366896613
|
0.00004
|
NM_020549.5(CHAT):c.1027G>A (p.Glu343Lys)
|
rs778837182
|
0.00004
|
NM_020549.5(CHAT):c.1105G>A (p.Val369Met)
|
rs769754418
|
0.00004
|
NM_020549.5(CHAT):c.1735G>A (p.Ala579Thr)
|
rs750002983
|
0.00004
|
NM_020549.5(CHAT):c.1771G>A (p.Val591Met)
|
rs201485243
|
0.00004
|
NM_020549.5(CHAT):c.1977+5G>A
|
rs780449243
|
0.00004
|
NM_020549.5(CHAT):c.374G>A (p.Ser125Asn)
|
rs756138129
|
0.00004
|
NM_021815.5(SLC5A7):c.1145G>A (p.Arg382Gln)
|
rs757121838
|
0.00004
|
NM_021815.5(SLC5A7):c.1322C>T (p.Ser441Phe)
|
rs754554826
|
0.00004
|
NM_021815.5(SLC5A7):c.1496A>C (p.Lys499Thr)
|
rs200286711
|
0.00004
|
NM_021815.5(SLC5A7):c.872T>C (p.Ile291Thr)
|
rs375397889
|
0.00004
|
NM_033087.4(ALG2):c.1156A>G (p.Met386Val)
|
rs772649099
|
0.00004
|
NM_033087.4(ALG2):c.1228T>C (p.Tyr410His)
|
rs376959842
|
0.00004
|
NM_033087.4(ALG2):c.19C>T (p.Arg7Trp)
|
rs761793563
|
0.00004
|
NM_033087.4(ALG2):c.299A>G (p.Tyr100Cys)
|
rs1372670324
|
0.00004
|
NM_033087.4(ALG2):c.319G>A (p.Glu107Lys)
|
rs1156439417
|
0.00004
|
NM_033087.4(ALG2):c.388C>T (p.Arg130Trp)
|
rs780287266
|
0.00004
|
NM_033087.4(ALG2):c.502G>A (p.Gly168Ser)
|
rs925393788
|
0.00004
|
NM_130811.4(SNAP25):c.527G>A (p.Arg176His)
|
rs751046094
|
0.00004
|
NM_144988.4(ALG14):c.140G>T (p.Gly47Val)
|
rs139758313
|
0.00004
|
NM_144988.4(ALG14):c.310C>T (p.Arg104Ter)
|
rs367570129
|
0.00004
|
NM_144988.4(ALG14):c.326G>A (p.Arg109Gln)
|
rs199689080
|
0.00004
|
NM_144988.4(ALG14):c.406G>A (p.Val136Met)
|
rs374376710
|
0.00004
|
NM_173660.5(DOK7):c.1138G>T (p.Ala380Ser)
|
rs760412846
|
0.00004
|
NM_173660.5(DOK7):c.1318G>A (p.Ala440Thr)
|
rs753026831
|
0.00004
|
NM_173660.5(DOK7):c.1384A>G (p.Ser462Gly)
|
rs771017173
|
0.00004
|
NM_173660.5(DOK7):c.308G>A (p.Arg103Gln)
|
rs377554325
|
0.00004
|
NM_173660.5(DOK7):c.541G>A (p.Val181Ile)
|
rs146076204
|
0.00004
|
NM_173660.5(DOK7):c.730C>T (p.Arg244Trp)
|
rs140544446
|
0.00004
|
NM_173660.5(DOK7):c.797C>T (p.Ser266Leu)
|
rs763936252
|
0.00004
|
NM_173660.5(DOK7):c.866C>T (p.Ser289Leu)
|
rs748566350
|
0.00004
|
NM_173660.5(DOK7):c.880A>G (p.Thr294Ala)
|
rs143821601
|
0.00004
|
NM_173660.5(DOK7):c.952C>A (p.Pro318Thr)
|
rs754476094
|
0.00004
|
NM_198576.4(AGRN):c.1054C>T (p.Arg352Trp)
|
rs149868381
|
0.00004
|
NM_198576.4(AGRN):c.1112G>A (p.Gly371Asp)
|
rs201725247
|
0.00004
|
NM_198576.4(AGRN):c.1232G>A (p.Arg411His)
|
rs201787384
|
0.00004
|
NM_198576.4(AGRN):c.1277G>A (p.Arg426Lys)
|
rs761799771
|
0.00004
|
NM_198576.4(AGRN):c.1304C>T (p.Thr435Met)
|
rs777883200
|
0.00004
|
NM_198576.4(AGRN):c.1315G>A (p.Asp439Asn)
|
rs758713569
|
0.00004
|
NM_198576.4(AGRN):c.1352G>A (p.Arg451His)
|
rs760216957
|
0.00004
|
NM_198576.4(AGRN):c.1645G>A (p.Glu549Lys)
|
rs754363785
|
0.00004
|
NM_198576.4(AGRN):c.1654C>T (p.Arg552Cys)
|
rs556149611
|
0.00004
|
NM_198576.4(AGRN):c.1693C>T (p.Pro565Ser)
|
rs760195130
|
0.00004
|
NM_198576.4(AGRN):c.1717A>T (p.Thr573Ser)
|
rs751832415
|
0.00004
|
NM_198576.4(AGRN):c.1744G>A (p.Val582Met)
|
rs141661464
|
0.00004
|
NM_198576.4(AGRN):c.1982C>T (p.Ala661Val)
|
rs767255310
|
0.00004
|
NM_198576.4(AGRN):c.2038G>A (p.Gly680Ser)
|
rs139983410
|
0.00004
|
NM_198576.4(AGRN):c.2246C>G (p.Ala749Gly)
|
rs777321497
|
0.00004
|
NM_198576.4(AGRN):c.2255-3C>T
|
rs199892129
|
0.00004
|
NM_198576.4(AGRN):c.2345G>A (p.Arg782Gln)
|
rs776934498
|
0.00004
|
NM_198576.4(AGRN):c.2567G>A (p.Arg856Gln)
|
rs576278814
|
0.00004
|
NM_198576.4(AGRN):c.2600C>T (p.Ser867Leu)
|
rs1037530738
|
0.00004
|
NM_198576.4(AGRN):c.2706G>A (p.Ala902=)
|
rs138212489
|
0.00004
|
NM_198576.4(AGRN):c.2798C>T (p.Ala933Val)
|
rs375711798
|
0.00004
|
NM_198576.4(AGRN):c.2942C>T (p.Ser981Phe)
|
rs368058639
|
0.00004
|
NM_198576.4(AGRN):c.3516C>T (p.Thr1172=)
|
rs543142635
|
0.00004
|
NM_198576.4(AGRN):c.3524A>G (p.Asp1175Gly)
|
rs536978031
|
0.00004
|
NM_198576.4(AGRN):c.3544G>A (p.Val1182Ile)
|
rs748783998
|
0.00004
|
NM_198576.4(AGRN):c.3560G>A (p.Arg1187Gln)
|
rs772632690
|
0.00004
|
NM_198576.4(AGRN):c.3598G>A (p.Val1200Ile)
|
rs755901578
|
0.00004
|
NM_198576.4(AGRN):c.383A>G (p.His128Arg)
|
rs138808237
|
0.00004
|
NM_198576.4(AGRN):c.3905C>T (p.Thr1302Met)
|
rs745898927
|
0.00004
|
NM_198576.4(AGRN):c.3952G>A (p.Val1318Met)
|
rs1044828934
|
0.00004
|
NM_198576.4(AGRN):c.3971C>T (p.Pro1324Leu)
|
rs770876851
|
0.00004
|
NM_198576.4(AGRN):c.4319C>T (p.Pro1440Leu)
|
rs1013476257
|
0.00004
|
NM_198576.4(AGRN):c.4367G>A (p.Arg1456His)
|
rs372604628
|
0.00004
|
NM_198576.4(AGRN):c.4402C>G (p.Leu1468Val)
|
rs765711896
|
0.00004
|
NM_198576.4(AGRN):c.4534G>A (p.Val1512Met)
|
rs201212251
|
0.00004
|
NM_198576.4(AGRN):c.4651C>T (p.His1551Tyr)
|
rs771455197
|
0.00004
|
NM_198576.4(AGRN):c.4743C>T (p.Val1581=)
|
rs774687739
|
0.00004
|
NM_198576.4(AGRN):c.5221G>C (p.Gly1741Arg)
|
rs1051289078
|
0.00004
|
NM_198576.4(AGRN):c.5327G>A (p.Arg1776His)
|
rs757621899
|
0.00004
|
NM_198576.4(AGRN):c.5338G>A (p.Val1780Met)
|
rs375378609
|
0.00004
|
NM_198576.4(AGRN):c.5402C>T (p.Pro1801Leu)
|
rs762249229
|
0.00004
|
NM_198576.4(AGRN):c.5497G>A (p.Val1833Ile)
|
rs377622440
|
0.00004
|
NM_198576.4(AGRN):c.5626G>A (p.Glu1876Lys)
|
rs367790694
|
0.00004
|
NM_198576.4(AGRN):c.5652-3C>T
|
rs371046187
|
0.00004
|
NM_198576.4(AGRN):c.5861G>A (p.Arg1954Gln)
|
rs775547243
|
0.00004
|
NM_198576.4(AGRN):c.5990C>T (p.Pro1997Leu)
|
rs144091542
|
0.00004
|
NM_198576.4(AGRN):c.6097G>A (p.Ala2033Thr)
|
rs374026237
|
0.00004
|
NM_198576.4(AGRN):c.6100G>A (p.Val2034Ile)
|
rs760232764
|
0.00004
|
NM_000080.4(CHRNE):c.1289T>G (p.Val430Gly)
|
rs200343520
|
0.00003
|
NM_000080.4(CHRNE):c.509C>G (p.Thr170Arg)
|
rs375652301
|
0.00003
|
NM_000080.4(CHRNE):c.989A>G (p.Gln330Arg)
|
rs747017964
|
0.00003
|
NM_000747.3(CHRNB1):c.1003C>T (p.Arg335Cys)
|
rs779467380
|
0.00003
|
NM_000747.3(CHRNB1):c.1365+5G>C
|
rs1051316024
|
0.00003
|
NM_000747.3(CHRNB1):c.354-8C>G
|
rs747533360
|
0.00003
|
NM_000747.3(CHRNB1):c.481G>A (p.Asp161Asn)
|
rs766657460
|
0.00003
|
NM_000747.3(CHRNB1):c.578A>G (p.Gln193Arg)
|
rs376604413
|
0.00003
|
NM_000747.3(CHRNB1):c.61G>A (p.Val21Ile)
|
rs775150297
|
0.00003
|
NM_000747.3(CHRNB1):c.995T>G (p.Leu332Arg)
|
rs749634279
|
0.00003
|
NM_001145536.2(C17orf107):c.*2083C>T
|
rs906477326
|
0.00003
|
NM_001171613.2(PREPL):c.-49+1780A>G
|
rs769195229
|
0.00003
|
NM_001171613.2(PREPL):c.1169A>G (p.Tyr390Cys)
|
rs757204599
|
0.00003
|
NM_001171613.2(PREPL):c.1294G>A (p.Ala432Thr)
|
rs373786632
|
0.00003
|
NM_001171613.2(PREPL):c.1304G>A (p.Arg435His)
|
rs768429131
|
0.00003
|
NM_001171613.2(PREPL):c.1411G>C (p.Ala471Pro)
|
rs371299047
|
0.00003
|
NM_001171613.2(PREPL):c.1420G>A (p.Val474Met)
|
rs780954540
|
0.00003
|
NM_001171613.2(PREPL):c.1597C>T (p.Arg533Cys)
|
rs145088151
|
0.00003
|
NM_001171613.2(PREPL):c.1666G>A (p.Asp556Asn)
|
rs191681889
|
0.00003
|
NM_001171613.2(PREPL):c.1760A>G (p.Gln587Arg)
|
rs779401831
|
0.00003
|
NM_001171613.2(PREPL):c.1797C>T (p.Gly599=)
|
rs1481266767
|
0.00003
|
NM_001171613.2(PREPL):c.1828A>T (p.Ile610Phe)
|
rs751603399
|
0.00003
|
NM_001171613.2(PREPL):c.266A>G (p.Asp89Gly)
|
rs760040766
|
0.00003
|
NM_001171613.2(PREPL):c.410G>A (p.Arg137His)
|
rs371309095
|
0.00003
|
NM_001171613.2(PREPL):c.455A>G (p.Asn152Ser)
|
rs763348800
|
0.00003
|
NM_001171613.2(PREPL):c.553A>G (p.Thr185Ala)
|
rs150028917
|
0.00003
|
NM_001171613.2(PREPL):c.760A>G (p.Met254Val)
|
rs771442588
|
0.00003
|
NM_001171613.2(PREPL):c.798T>G (p.Phe266Leu)
|
rs750048724
|
0.00003
|
NM_001244710.2(GFPT1):c.715C>T (p.Arg239Trp)
|
rs779427303
|
0.00003
|
NM_002334.4(LRP4):c.1048C>T (p.Arg350Trp)
|
rs368744612
|
0.00003
|
NM_002334.4(LRP4):c.1342A>G (p.Ile448Val)
|
rs761341366
|
0.00003
|
NM_002334.4(LRP4):c.1433G>A (p.Arg478His)
|
rs1349507715
|
0.00003
|
NM_002334.4(LRP4):c.1825G>A (p.Gly609Arg)
|
rs1389594811
|
0.00003
|
NM_002334.4(LRP4):c.1922C>T (p.Pro641Leu)
|
rs886048355
|
0.00003
|
NM_002334.4(LRP4):c.2639C>T (p.Ala880Val)
|
rs373683358
|
0.00003
|
NM_002334.4(LRP4):c.274G>A (p.Gly92Arg)
|
rs754071316
|
0.00003
|
NM_002334.4(LRP4):c.323G>A (p.Arg108Gln)
|
rs772332690
|
0.00003
|
NM_002334.4(LRP4):c.3344A>G (p.His1115Arg)
|
rs758144252
|
0.00003
|
NM_002334.4(LRP4):c.3428C>T (p.Thr1143Met)
|
rs751933622
|
0.00003
|
NM_002334.4(LRP4):c.3599C>T (p.Ser1200Leu)
|
rs749792822
|
0.00003
|
NM_002334.4(LRP4):c.448G>A (p.Asp150Asn)
|
rs200746048
|
0.00003
|
NM_002334.4(LRP4):c.4516C>T (p.Arg1506Trp)
|
rs766025454
|
0.00003
|
NM_002334.4(LRP4):c.4517G>A (p.Arg1506Gln)
|
rs142300637
|
0.00003
|
NM_002334.4(LRP4):c.4928C>T (p.Pro1643Leu)
|
rs767372563
|
0.00003
|
NM_002334.4(LRP4):c.5138C>T (p.Ala1713Val)
|
rs1035754612
|
0.00003
|
NM_002334.4(LRP4):c.825C>A (p.Phe275Leu)
|
rs772586265
|
0.00003
|
NM_002334.4(LRP4):c.842G>A (p.Arg281His)
|
rs146670859
|
0.00003
|
NM_002334.4(LRP4):c.968G>A (p.Arg323His)
|
rs745607286
|
0.00003
|
NM_005055.5(RAPSN):c.1180A>C (p.Asn394His)
|
rs762532220
|
0.00003
|
NM_005055.5(RAPSN):c.124C>T (p.Arg42Cys)
|
rs201197735
|
0.00003
|
NM_005055.5(RAPSN):c.196G>A (p.Ala66Thr)
|
rs145197671
|
0.00003
|
NM_005055.5(RAPSN):c.265C>G (p.Leu89Val)
|
rs543224303
|
0.00003
|
NM_005055.5(RAPSN):c.706G>A (p.Ala236Thr)
|
rs545915312
|
0.00003
|
NM_005055.5(RAPSN):c.725G>A (p.Arg242Gln)
|
rs780963721
|
0.00003
|
NM_005055.5(RAPSN):c.808G>A (p.Asp270Asn)
|
rs768011436
|
0.00003
|
NM_005055.5(RAPSN):c.822C>A (p.Ser274Arg)
|
rs778371396
|
0.00003
|
NM_005055.5(RAPSN):c.863C>T (p.Ala288Val)
|
rs760068830
|
0.00003
|
NM_005592.4(MUSK):c.1128C>A (p.Asn376Lys)
|
rs773285595
|
0.00003
|
NM_005592.4(MUSK):c.1385-3C>T
|
rs775863015
|
0.00003
|
NM_005592.4(MUSK):c.1583A>C (p.Lys528Thr)
|
rs776545636
|
0.00003
|
NM_005592.4(MUSK):c.2300G>A (p.Arg767His)
|
rs370079610
|
0.00003
|
NM_005592.4(MUSK):c.230T>C (p.Ile77Thr)
|
rs547322569
|
0.00003
|
NM_005592.4(MUSK):c.468G>C (p.Lys156Asn)
|
rs187347916
|
0.00003
|
NM_005592.4(MUSK):c.754-6T>A
|
rs762500701
|
0.00003
|
NM_005677.4(COLQ):c.1354C>T (p.Arg452Cys)
|
rs368932156
|
0.00003
|
NM_005677.4(COLQ):c.674G>C (p.Gly225Ala)
|
rs780362486
|
0.00003
|
NM_020549.5(CHAT):c.1550A>C (p.Asp517Ala)
|
rs1368752304
|
0.00003
|
NM_020549.5(CHAT):c.1635-5C>A
|
rs776745899
|
0.00003
|
NM_020549.5(CHAT):c.1675A>G (p.Ile559Val)
|
rs202040717
|
0.00003
|
NM_020549.5(CHAT):c.181C>T (p.Pro61Ser)
|
rs923971969
|
0.00003
|
NM_020549.5(CHAT):c.1895G>A (p.Arg632Gln)
|
rs758448736
|
0.00003
|
NM_020549.5(CHAT):c.2219C>T (p.Thr740Met)
|
rs755783618
|
0.00003
|
NM_020549.5(CHAT):c.26G>A (p.Arg9Lys)
|
rs1056302745
|
0.00003
|
NM_020549.5(CHAT):c.314G>C (p.Gly105Ala)
|
rs149711635
|
0.00003
|
NM_021815.5(SLC5A7):c.1144C>T (p.Arg382Ter)
|
rs751468033
|
0.00003
|
NM_021815.5(SLC5A7):c.1285G>A (p.Gly429Arg)
|
rs764287242
|
0.00003
|
NM_021815.5(SLC5A7):c.1655C>A (p.Thr552Asn)
|
rs748431280
|
0.00003
|
NM_021815.5(SLC5A7):c.463G>A (p.Val155Met)
|
rs775903161
|
0.00003
|
NM_021815.5(SLC5A7):c.973C>A (p.Gln325Lys)
|
rs1191969326
|
0.00003
|
NM_033087.4(ALG2):c.10G>A (p.Glu4Lys)
|
rs1329170357
|
0.00003
|
NM_033087.4(ALG2):c.1A>G (p.Met1Val)
|
rs750172644
|
0.00003
|
NM_033087.4(ALG2):c.233G>A (p.Gly78Asp)
|
rs934545988
|
0.00003
|
NM_033087.4(ALG2):c.239G>A (p.Gly80Asp)
|
rs752081241
|
0.00003
|
NM_033087.4(ALG2):c.449T>C (p.Phe150Ser)
|
rs377047079
|
0.00003
|
NM_144988.4(ALG14):c.311G>A (p.Arg104Gln)
|
rs201781289
|
0.00003
|
NM_144988.4(ALG14):c.570T>A (p.His190Gln)
|
rs770065162
|
0.00003
|
NM_173660.5(DOK7):c.1000A>G (p.Ser334Gly)
|
rs769643041
|
0.00003
|
NM_173660.5(DOK7):c.1141C>T (p.Pro381Ser)
|
rs574663125
|
0.00003
|
NM_173660.5(DOK7):c.1262C>A (p.Pro421His)
|
rs373261147
|
0.00003
|
NM_173660.5(DOK7):c.1294A>G (p.Arg432Gly)
|
rs1390831169
|
0.00003
|
NM_173660.5(DOK7):c.1451C>T (p.Pro484Leu)
|
rs1057518522
|
0.00003
|
NM_173660.5(DOK7):c.1477C>G (p.Pro493Ala)
|
rs748438470
|
0.00003
|
NM_173660.5(DOK7):c.1496A>G (p.Lys499Arg)
|
rs865879271
|
0.00003
|
NM_173660.5(DOK7):c.36G>T (p.Lys12Asn)
|
rs368106071
|
0.00003
|
NM_173660.5(DOK7):c.522G>C (p.Arg174Ser)
|
rs762376200
|
0.00003
|
NM_173660.5(DOK7):c.54+3C>T
|
rs1560200971
|
0.00003
|
NM_173660.5(DOK7):c.611C>A (p.Ser204Tyr)
|
rs1219693310
|
0.00003
|
NM_173660.5(DOK7):c.638G>A (p.Arg213Gln)
|
rs371408752
|
0.00003
|
NM_173660.5(DOK7):c.674C>T (p.Ser225Leu)
|
rs769699131
|
0.00003
|
NM_173660.5(DOK7):c.757A>G (p.Arg253Gly)
|
rs370967580
|
0.00003
|
NM_173660.5(DOK7):c.857A>G (p.Glu286Gly)
|
rs754105518
|
0.00003
|
NM_173660.5(DOK7):c.94G>A (p.Val32Met)
|
rs1417673287
|
0.00003
|
NM_173660.5(DOK7):c.983A>C (p.Gln328Pro)
|
rs752168445
|
0.00003
|
NM_173660.5(DOK7):c.994C>T (p.Arg332Cys)
|
rs200394790
|
0.00003
|
NM_198576.4(AGRN):c.1118C>T (p.Ser373Leu)
|
rs747332721
|
0.00003
|
NM_198576.4(AGRN):c.1177+4A>G
|
rs28397093
|
0.00003
|
NM_198576.4(AGRN):c.1199G>A (p.Arg400Gln)
|
rs748219640
|
0.00003
|
NM_198576.4(AGRN):c.1226G>A (p.Arg409His)
|
rs143161987
|
0.00003
|
NM_198576.4(AGRN):c.1267G>A (p.Gly423Arg)
|
rs775192392
|
0.00003
|
NM_198576.4(AGRN):c.1411G>A (p.Val471Met)
|
rs148949051
|
0.00003
|
NM_198576.4(AGRN):c.1484C>T (p.Ser495Leu)
|
rs753280577
|
0.00003
|
NM_198576.4(AGRN):c.1553C>T (p.Thr518Met)
|
rs746322262
|
0.00003
|
NM_198576.4(AGRN):c.1589G>A (p.Arg530His)
|
rs139590454
|
0.00003
|
NM_198576.4(AGRN):c.1612G>A (p.Gly538Arg)
|
rs558214372
|
0.00003
|
NM_198576.4(AGRN):c.1937G>A (p.Arg646Gln)
|
rs755605232
|
0.00003
|
NM_198576.4(AGRN):c.1969G>A (p.Glu657Lys)
|
rs377567167
|
0.00003
|
NM_198576.4(AGRN):c.2008G>A (p.Gly670Ser)
|
rs777497420
|
0.00003
|
NM_198576.4(AGRN):c.2324A>G (p.Gln775Arg)
|
rs370381176
|
0.00003
|
NM_198576.4(AGRN):c.2494A>G (p.Asn832Asp)
|
rs574793544
|
0.00003
|
NM_198576.4(AGRN):c.2521C>T (p.Arg841Trp)
|
rs745850324
|
0.00003
|
NM_198576.4(AGRN):c.2566C>T (p.Arg856Trp)
|
rs770329947
|
0.00003
|
NM_198576.4(AGRN):c.2725G>A (p.Gly909Ser)
|
rs368433481
|
0.00003
|
NM_198576.4(AGRN):c.2771C>T (p.Pro924Leu)
|
rs530518237
|
0.00003
|
NM_198576.4(AGRN):c.2866C>T (p.Arg956Cys)
|
rs751407693
|
0.00003
|
NM_198576.4(AGRN):c.3119C>T (p.Thr1040Met)
|
rs751987634
|
0.00003
|
NM_198576.4(AGRN):c.3301G>A (p.Glu1101Lys)
|
rs371389185
|
0.00003
|
NM_198576.4(AGRN):c.3532C>T (p.Arg1178Trp)
|
rs149268246
|
0.00003
|
NM_198576.4(AGRN):c.3698G>A (p.Arg1233Gln)
|
rs746259185
|
0.00003
|
NM_198576.4(AGRN):c.3726G>C (p.Gln1242His)
|
rs1396984760
|
0.00003
|
NM_198576.4(AGRN):c.3727G>A (p.Glu1243Lys)
|
rs773267614
|
0.00003
|
NM_198576.4(AGRN):c.4051G>A (p.Gly1351Arg)
|
rs867208955
|
0.00003
|
NM_198576.4(AGRN):c.4093G>A (p.Val1365Ile)
|
rs745802920
|
0.00003
|
NM_198576.4(AGRN):c.4453G>A (p.Asp1485Asn)
|
rs760184240
|
0.00003
|
NM_198576.4(AGRN):c.449A>C (p.Glu150Ala)
|
rs149363091
|
0.00003
|
NM_198576.4(AGRN):c.4562G>A (p.Arg1521His)
|
rs371871999
|
0.00003
|
NM_198576.4(AGRN):c.4622G>A (p.Arg1541Gln)
|
rs760702396
|
0.00003
|
NM_198576.4(AGRN):c.4654C>T (p.Pro1552Ser)
|
rs769748027
|
0.00003
|
NM_198576.4(AGRN):c.4738C>T (p.Arg1580Cys)
|
rs756579775
|
0.00003
|
NM_198576.4(AGRN):c.4741G>A (p.Val1581Ile)
|
rs376043332
|
0.00003
|
NM_198576.4(AGRN):c.4834C>G (p.Gln1612Glu)
|
rs1276554627
|
0.00003
|
NM_198576.4(AGRN):c.4999G>A (p.Val1667Met)
|
rs770750909
|
0.00003
|
NM_198576.4(AGRN):c.5071G>A (p.Val1691Met)
|
rs752964147
|
0.00003
|
NM_198576.4(AGRN):c.5093G>A (p.Arg1698His)
|
rs551658645
|
0.00003
|
NM_198576.4(AGRN):c.5200C>T (p.Arg1734Cys)
|
rs372565629
|
0.00003
|
NM_198576.4(AGRN):c.5258C>T (p.Pro1753Leu)
|
rs748126752
|
0.00003
|
NM_198576.4(AGRN):c.5410G>A (p.Val1804Met)
|
rs754158999
|
0.00003
|
NM_198576.4(AGRN):c.5449C>T (p.Pro1817Ser)
|
rs561181323
|
0.00003
|
NM_198576.4(AGRN):c.5483A>G (p.Asn1828Ser)
|
rs753473191
|
0.00003
|
NM_198576.4(AGRN):c.5615G>A (p.Arg1872Gln)
|
rs767076670
|
0.00003
|
NM_198576.4(AGRN):c.5645C>T (p.Thr1882Ile)
|
rs540580770
|
0.00003
|
NM_198576.4(AGRN):c.5839G>A (p.Val1947Ile)
|
rs745398279
|
0.00003
|
NM_198576.4(AGRN):c.5926G>A (p.Gly1976Ser)
|
rs781607506
|
0.00003
|
NM_198576.4(AGRN):c.5998C>T (p.Pro2000Ser)
|
rs745821776
|
0.00003
|
NM_198576.4(AGRN):c.6077C>T (p.Pro2026Leu)
|
rs369944008
|
0.00003
|
NM_198576.4(AGRN):c.6091G>A (p.Glu2031Lys)
|
rs1028610040
|
0.00003
|
NM_198576.4(AGRN):c.880G>A (p.Gly294Ser)
|
rs947705663
|
0.00003
|
NM_198576.4(AGRN):c.941A>T (p.Asp314Val)
|
rs1230475487
|
0.00003
|
NM_000080.4(CHRNE):c.1055G>A (p.Arg352His)
|
rs764744220
|
0.00002
|
NM_000080.4(CHRNE):c.1075C>T (p.Pro359Ser)
|
rs773187552
|
0.00002
|
NM_000080.4(CHRNE):c.1100C>T (p.Ser367Leu)
|
rs753495337
|
0.00002
|
NM_000080.4(CHRNE):c.118C>T (p.Arg40Trp)
|
rs754001856
|
0.00002
|
NM_000080.4(CHRNE):c.1211C>T (p.Thr404Ile)
|
rs747853975
|
0.00002
|
NM_000080.4(CHRNE):c.1301C>T (p.Thr434Met)
|
rs1049573372
|
0.00002
|
NM_000080.4(CHRNE):c.1434C>A (p.Tyr478Ter)
|
rs763943642
|
0.00002
|
NM_000080.4(CHRNE):c.1466C>T (p.Pro489Leu)
|
rs575920043
|
0.00002
|
NM_000080.4(CHRNE):c.16C>T (p.Leu6Phe)
|
rs746521766
|
0.00002
|
NM_000080.4(CHRNE):c.325G>A (p.Glu109Lys)
|
rs779426416
|
0.00002
|
NM_000080.4(CHRNE):c.329T>C (p.Ile110Thr)
|
rs1276426047
|
0.00002
|
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg)
|
rs372635387
|
0.00002
|
NM_000080.4(CHRNE):c.557G>A (p.Gly186Asp)
|
rs1279921545
|
0.00002
|
NM_000080.4(CHRNE):c.569A>G (p.Asn190Ser)
|
rs753756406
|
0.00002
|
NM_000080.4(CHRNE):c.705C>G (p.Ile235Met)
|
rs748765369
|
0.00002
|
NM_000080.4(CHRNE):c.883C>T (p.Pro295Ser)
|
rs61735425
|
0.00002
|
NM_000747.3(CHRNB1):c.1015A>G (p.Thr339Ala)
|
rs775070102
|
0.00002
|
NM_000747.3(CHRNB1):c.1396G>A (p.Val466Ile)
|
rs1046733309
|
0.00002
|
NM_000747.3(CHRNB1):c.1482G>T (p.Leu494Phe)
|
rs747251351
|
0.00002
|
NM_000747.3(CHRNB1):c.26T>C (p.Leu9Pro)
|
rs1157224283
|
0.00002
|
NM_000747.3(CHRNB1):c.314C>T (p.Ala105Val)
|
rs866965972
|
0.00002
|
NM_000747.3(CHRNB1):c.499A>G (p.Met167Val)
|
rs755445802
|
0.00002
|
NM_000747.3(CHRNB1):c.572G>A (p.Gly191Glu)
|
rs756513117
|
0.00002
|
NM_000747.3(CHRNB1):c.608T>C (p.Ile203Thr)
|
rs1186710796
|
0.00002
|
NM_000747.3(CHRNB1):c.914T>G (p.Val305Gly)
|
rs372910299
|
0.00002
|
NM_000747.3(CHRNB1):c.955G>A (p.Val319Ile)
|
rs753646298
|
0.00002
|
NM_001171613.2(PREPL):c.1042A>G (p.Ile348Val)
|
rs893139776
|
0.00002
|
NM_001171613.2(PREPL):c.1509G>A (p.Met503Ile)
|
rs753863367
|
0.00002
|
NM_001171613.2(PREPL):c.1562C>G (p.Pro521Arg)
|
rs778123136
|
0.00002
|
NM_001171613.2(PREPL):c.172A>G (p.Asn58Asp)
|
rs370680461
|
0.00002
|
NM_001171613.2(PREPL):c.1888G>A (p.Glu630Lys)
|
rs892455452
|
0.00002
|
NM_001171613.2(PREPL):c.277T>A (p.Ser93Thr)
|
rs373911326
|
0.00002
|
NM_001171613.2(PREPL):c.293T>C (p.Ile98Thr)
|
rs370296906
|
0.00002
|
NM_001171613.2(PREPL):c.299T>C (p.Leu100Pro)
|
rs755031960
|
0.00002
|
NM_001171613.2(PREPL):c.503A>G (p.Tyr168Cys)
|
rs775248800
|
0.00002
|
NM_001171613.2(PREPL):c.517A>G (p.Ser173Gly)
|
rs758838556
|
0.00002
|
NM_001171613.2(PREPL):c.747T>A (p.Asp249Glu)
|
rs761270066
|
0.00002
|
NM_001244710.2(GFPT1):c.1879G>A (p.Val627Met)
|
rs372725563
|
0.00002
|
NM_001244710.2(GFPT1):c.709T>G (p.Phe237Val)
|
rs1463544616
|
0.00002
|
NM_001382.4(DPAGT1):c.1193G>A (p.Arg398Gln)
|
rs747825322
|
0.00002
|
NM_001382.4(DPAGT1):c.14C>T (p.Ser5Leu)
|
rs764519878
|
0.00002
|
NM_001382.4(DPAGT1):c.257A>T (p.Gln86Leu)
|
rs751806317
|
0.00002
|
NM_001382.4(DPAGT1):c.488T>C (p.Leu163Pro)
|
rs772211450
|
0.00002
|
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys)
|
rs28934876
|
0.00002
|
NM_001382.4(DPAGT1):c.790G>A (p.Val264Met)
|
rs745872044
|
0.00002
|
NM_001382.4(DPAGT1):c.917+6C>T
|
rs539220035
|
0.00002
|
NM_001382.4(DPAGT1):c.989G>A (p.Gly330Asp)
|
rs780497256
|
0.00002
|
NM_002334.4(LRP4):c.1058C>T (p.Thr353Met)
|
rs769661653
|
0.00002
|
NM_002334.4(LRP4):c.1435C>T (p.Arg479Cys)
|
rs143207358
|
0.00002
|
NM_002334.4(LRP4):c.1472G>A (p.Arg491Gln)
|
rs774924956
|
0.00002
|
NM_002334.4(LRP4):c.1480C>T (p.Arg494Cys)
|
rs749530671
|
0.00002
|
NM_002334.4(LRP4):c.2747G>A (p.Arg916His)
|
rs752315031
|
0.00002
|
NM_002334.4(LRP4):c.2767G>A (p.Gly923Ser)
|
rs765716290
|
0.00002
|
NM_002334.4(LRP4):c.2861A>G (p.Tyr954Cys)
|
rs775608977
|
0.00002
|
NM_002334.4(LRP4):c.2863G>A (p.Gly955Arg)
|
rs772232191
|
0.00002
|
NM_002334.4(LRP4):c.290A>C (p.Glu97Ala)
|
rs766174802
|
0.00002
|
NM_002334.4(LRP4):c.3701G>A (p.Arg1234Gln)
|
rs754092006
|
0.00002
|
NM_002334.4(LRP4):c.3709G>T (p.Ala1237Ser)
|
rs748719669
|
0.00002
|
NM_002334.4(LRP4):c.3895A>G (p.Met1299Val)
|
rs764853604
|
0.00002
|
NM_002334.4(LRP4):c.4082G>A (p.Arg1361His)
|
rs779038341
|
0.00002
|
NM_002334.4(LRP4):c.4505A>C (p.Asp1502Ala)
|
rs200506943
|
0.00002
|
NM_002334.4(LRP4):c.4762C>T (p.Arg1588Trp)
|
rs546318025
|
0.00002
|
NM_002334.4(LRP4):c.5132A>G (p.Asn1711Ser)
|
rs774058346
|
0.00002
|
NM_002334.4(LRP4):c.5179G>A (p.Ala1727Thr)
|
rs914781633
|
0.00002
|
NM_002334.4(LRP4):c.5186G>C (p.Gly1729Ala)
|
rs367608390
|
0.00002
|
NM_002334.4(LRP4):c.5378A>C (p.Lys1793Thr)
|
rs778676466
|
0.00002
|
NM_002334.4(LRP4):c.5654G>A (p.Arg1885Gln)
|
rs779079160
|
0.00002
|
NM_002334.4(LRP4):c.5669A>G (p.Asp1890Gly)
|
rs749482785
|
0.00002
|
NM_002334.4(LRP4):c.967C>T (p.Arg323Cys)
|
rs772004553
|
0.00002
|
NM_005055.5(RAPSN):c.1115A>G (p.Glu372Gly)
|
rs768059942
|
0.00002
|
NM_005055.5(RAPSN):c.178A>C (p.Lys60Gln)
|
rs1380619456
|
0.00002
|
NM_005055.5(RAPSN):c.360G>T (p.Gln120His)
|
rs780338213
|
0.00002
|
NM_005055.5(RAPSN):c.475G>A (p.Ala159Thr)
|
rs199506866
|
0.00002
|
NM_005055.5(RAPSN):c.574C>T (p.Leu192Phe)
|
rs376041895
|
0.00002
|
NM_005055.5(RAPSN):c.650G>A (p.Arg217His)
|
rs763058066
|
0.00002
|
NM_005592.4(MUSK):c.1014C>A (p.Asn338Lys)
|
rs373175897
|
0.00002
|
NM_005592.4(MUSK):c.1148G>T (p.Ser383Ile)
|
rs571312240
|
0.00002
|
NM_005592.4(MUSK):c.1230G>C (p.Trp410Cys)
|
rs751972431
|
0.00002
|
NM_005592.4(MUSK):c.1363T>G (p.Tyr455Asp)
|
rs369240171
|
0.00002
|
NM_005592.4(MUSK):c.1400C>T (p.Thr467Met)
|
rs777107917
|
0.00002
|
NM_005592.4(MUSK):c.1657A>G (p.Met553Val)
|
rs753213086
|
0.00002
|
NM_005592.4(MUSK):c.1798T>A (p.Tyr600Asn)
|
rs147562871
|
0.00002
|
NM_005592.4(MUSK):c.1799A>G (p.Tyr600Cys)
|
rs760793449
|
0.00002
|
NM_005592.4(MUSK):c.2014C>T (p.Pro672Ser)
|
rs779042240
|
0.00002
|
NM_005592.4(MUSK):c.2077G>C (p.Gly693Arg)
|
rs1216581384
|
0.00002
|
NM_005592.4(MUSK):c.2447G>A (p.Arg816Gln)
|
rs764486887
|
0.00002
|
NM_005592.4(MUSK):c.2506C>T (p.Arg836Cys)
|
rs769657813
|
0.00002
|
NM_005592.4(MUSK):c.2561G>A (p.Arg854Gln)
|
rs754275653
|
0.00002
|
NM_005592.4(MUSK):c.2572C>T (p.Arg858Cys)
|
rs200450921
|
0.00002
|
NM_005592.4(MUSK):c.373C>T (p.Arg125Cys)
|
rs371157090
|
0.00002
|
NM_005592.4(MUSK):c.667G>A (p.Val223Ile)
|
rs774463260
|
0.00002
|
NM_005592.4(MUSK):c.857A>G (p.Asn286Ser)
|
rs747154421
|
0.00002
|
NM_005677.4(COLQ):c.1174G>A (p.Asp392Asn)
|
rs749266800
|
0.00002
|
NM_005677.4(COLQ):c.282G>A (p.Met94Ile)
|
rs764250328
|
0.00002
|
NM_005677.4(COLQ):c.393+3A>G
|
rs1248479113
|
0.00002
|
NM_005677.4(COLQ):c.43C>T (p.Leu15Phe)
|
rs762844921
|
0.00002
|
NM_005677.4(COLQ):c.476G>C (p.Gly159Ala)
|
rs748461738
|
0.00002
|
NM_005677.4(COLQ):c.484G>T (p.Gly162Cys)
|
rs376385207
|
0.00002
|
NM_005677.4(COLQ):c.517A>G (p.Met173Val)
|
rs750324839
|
0.00002
|
NM_005677.4(COLQ):c.555G>A (p.Lys185=)
|
rs750472473
|
0.00002
|
NM_005677.4(COLQ):c.569A>G (p.Glu190Gly)
|
rs377364923
|
0.00002
|
NM_005677.4(COLQ):c.680G>A (p.Arg227Gln)
|
rs764737302
|
0.00002
|
NM_005677.4(COLQ):c.769T>G (p.Ser257Ala)
|
rs754017581
|
0.00002
|
NM_005677.4(COLQ):c.88G>A (p.Val30Ile)
|
rs201234648
|
0.00002
|
NM_005677.4(COLQ):c.913G>A (p.Gly305Arg)
|
rs1553634795
|
0.00002
|
NM_005677.4(COLQ):c.954+6G>A
|
rs749018849
|
0.00002
|
NM_020549.5(CHAT):c.1148G>A (p.Arg383His)
|
rs779919147
|
0.00002
|
NM_020549.5(CHAT):c.1186G>A (p.Val396Met)
|
rs536359684
|
0.00002
|
NM_020549.5(CHAT):c.157G>A (p.Gly53Arg)
|
rs968331105
|
0.00002
|
NM_020549.5(CHAT):c.1661A>G (p.Tyr554Cys)
|
rs778572568
|
0.00002
|
NM_020549.5(CHAT):c.1784A>T (p.Glu595Val)
|
rs190968891
|
0.00002
|
NM_020549.5(CHAT):c.1840-9A>G
|
rs1279554995
|
0.00002
|
NM_020549.5(CHAT):c.2185G>A (p.Glu729Lys)
|
rs751461280
|
0.00002
|
NM_020549.5(CHAT):c.230A>G (p.His77Arg)
|
rs1158850299
|
0.00002
|
NM_020549.5(CHAT):c.283G>T (p.Ala95Ser)
|
rs1429339523
|
0.00002
|
NM_020549.5(CHAT):c.387T>C (p.Ser129=)
|
rs143723043
|
0.00002
|
NM_020549.5(CHAT):c.394C>T (p.Pro132Ser)
|
rs1323843750
|
0.00002
|
NM_020549.5(CHAT):c.707C>T (p.Ala236Val)
|
rs770250348
|
0.00002
|
NM_020549.5(CHAT):c.890T>C (p.Ile297Thr)
|
rs1373162548
|
0.00002
|
NM_020549.5(CHAT):c.92T>G (p.Val31Gly)
|
rs1016283273
|
0.00002
|
NM_020549.5(CHAT):c.94C>T (p.Arg32Trp)
|
rs1464103196
|
0.00002
|
NM_021815.5(SLC5A7):c.1113+6A>G
|
rs766515861
|
0.00002
|
NM_021815.5(SLC5A7):c.1132G>A (p.Val378Ile)
|
rs763020957
|
0.00002
|
NM_021815.5(SLC5A7):c.1246G>A (p.Val416Ile)
|
rs759833850
|
0.00002
|
NM_021815.5(SLC5A7):c.1487A>G (p.Tyr496Cys)
|
rs1001889637
|
0.00002
|
NM_021815.5(SLC5A7):c.1630C>T (p.Leu544Phe)
|
rs780371731
|
0.00002
|
NM_021815.5(SLC5A7):c.472G>A (p.Asp158Asn)
|
rs768776054
|
0.00002
|
NM_021815.5(SLC5A7):c.568G>A (p.Val190Ile)
|
rs541031936
|
0.00002
|
NM_033087.4(ALG2):c.1174G>A (p.Ala392Thr)
|
rs138258236
|
0.00002
|
NM_033087.4(ALG2):c.1218G>C (p.Gln406His)
|
rs763754023
|
0.00002
|
NM_033087.4(ALG2):c.180C>G (p.Phe60Leu)
|
rs777441526
|
0.00002
|
NM_033087.4(ALG2):c.20G>A (p.Arg7Gln)
|
rs776974668
|
0.00002
|
NM_033087.4(ALG2):c.248G>A (p.Gly83Asp)
|
rs376627887
|
0.00002
|
NM_033087.4(ALG2):c.361A>G (p.Ile121Val)
|
rs774204697
|
0.00002
|
NM_033087.4(ALG2):c.752G>A (p.Arg251His)
|
rs201729325
|
0.00002
|
NM_033087.4(ALG2):c.784G>T (p.Val262Phe)
|
rs1229029511
|
0.00002
|
NM_130811.4(SNAP25):c.356G>A (p.Arg119His)
|
rs774645750
|
0.00002
|
NM_130811.4(SNAP25):c.408-3C>T
|
rs1385382718
|
0.00002
|
NM_144988.4(ALG14):c.16G>A (p.Val6Ile)
|
rs756921157
|
0.00002
|
NM_144988.4(ALG14):c.476T>C (p.Leu159Pro)
|
rs746850097
|
0.00002
|
NM_144988.4(ALG14):c.560T>C (p.Ile187Thr)
|
rs775514355
|
0.00002
|
NM_144988.4(ALG14):c.641G>A (p.Arg214Gln)
|
rs767036165
|
0.00002
|
NM_173660.5(DOK7):c.1169C>T (p.Pro390Leu)
|
rs1418197383
|
0.00002
|
NM_173660.5(DOK7):c.1180G>A (p.Glu394Lys)
|
rs751691265
|
0.00002
|
NM_173660.5(DOK7):c.1226G>A (p.Arg409His)
|
rs377528603
|
0.00002
|
NM_173660.5(DOK7):c.1244C>G (p.Pro415Arg)
|
rs142510199
|
0.00002
|
NM_173660.5(DOK7):c.1289C>T (p.Ala430Val)
|
rs745414274
|
0.00002
|
NM_173660.5(DOK7):c.1417G>A (p.Glu473Lys)
|
rs1359635065
|
0.00002
|
NM_173660.5(DOK7):c.1447G>T (p.Gly483Trp)
|
rs915179362
|
0.00002
|
NM_173660.5(DOK7):c.326G>A (p.Gly109Asp)
|
rs1319317420
|
0.00002
|
NM_173660.5(DOK7):c.557C>T (p.Ser186Leu)
|
rs772577244
|
0.00002
|
NM_173660.5(DOK7):c.623G>T (p.Gly208Val)
|
rs572714394
|
0.00002
|
NM_173660.5(DOK7):c.65G>A (p.Arg22Lys)
|
rs756962738
|
0.00002
|
NM_173660.5(DOK7):c.689G>A (p.Arg230His)
|
rs760941977
|
0.00002
|
NM_173660.5(DOK7):c.773-2_773-1del
|
rs770163440
|
0.00002
|
NM_173660.5(DOK7):c.847G>A (p.Ala283Thr)
|
rs139429423
|
0.00002
|
NM_173660.5(DOK7):c.86C>T (p.Pro29Leu)
|
rs1478257270
|
0.00002
|
NM_173660.5(DOK7):c.914A>G (p.Gln305Arg)
|
rs747816956
|
0.00002
|
NM_173660.5(DOK7):c.97G>T (p.Ala33Ser)
|
rs1425852835
|
0.00002
|
NM_198576.4(AGRN):c.1223G>A (p.Arg408His)
|
rs764063704
|
0.00002
|
NM_198576.4(AGRN):c.1282G>A (p.Val428Met)
|
rs566439735
|
0.00002
|
NM_198576.4(AGRN):c.1519G>A (p.Val507Ile)
|
rs753019974
|
0.00002
|
NM_198576.4(AGRN):c.1534G>A (p.Ala512Thr)
|
rs780205618
|
0.00002
|
NM_198576.4(AGRN):c.1535C>T (p.Ala512Val)
|
rs375076629
|
0.00002
|
NM_198576.4(AGRN):c.1607G>A (p.Arg536His)
|
rs369083997
|
0.00002
|
NM_198576.4(AGRN):c.1696G>A (p.Val566Met)
|
rs754169694
|
0.00002
|
NM_198576.4(AGRN):c.1718C>T (p.Thr573Met)
|
rs757402635
|
0.00002
|
NM_198576.4(AGRN):c.1769G>A (p.Ser590Asn)
|
rs199963653
|
0.00002
|
NM_198576.4(AGRN):c.1847G>A (p.Gly616Glu)
|
rs773393723
|
0.00002
|
NM_198576.4(AGRN):c.1880C>T (p.Pro627Leu)
|
rs749918192
|
0.00002
|
NM_198576.4(AGRN):c.1930G>A (p.Glu644Lys)
|
rs767435056
|
0.00002
|
NM_198576.4(AGRN):c.1995G>T (p.Glu665Asp)
|
rs752339788
|
0.00002
|
NM_198576.4(AGRN):c.2055G>C (p.Glu685Asp)
|
rs954560285
|
0.00002
|
NM_198576.4(AGRN):c.2101G>A (p.Gly701Arg)
|
rs147195498
|
0.00002
|
NM_198576.4(AGRN):c.2147C>T (p.Pro716Leu)
|
rs535766401
|
0.00002
|
NM_198576.4(AGRN):c.2230G>A (p.Val744Ile)
|
rs774546870
|
0.00002
|
NM_198576.4(AGRN):c.2314G>A (p.Gly772Ser)
|
rs1038647532
|
0.00002
|
NM_198576.4(AGRN):c.2338G>A (p.Ala780Thr)
|
rs540467706
|
0.00002
|
NM_198576.4(AGRN):c.2350G>A (p.Val784Met)
|
rs139778596
|
0.00002
|
NM_198576.4(AGRN):c.2366G>A (p.Cys789Tyr)
|
rs760257579
|
0.00002
|
NM_198576.4(AGRN):c.2404G>A (p.Gly802Ser)
|
rs762481817
|
0.00002
|
NM_198576.4(AGRN):c.2696C>T (p.Ala899Val)
|
rs201460027
|
0.00002
|
NM_198576.4(AGRN):c.2732G>A (p.Arg911Gln)
|
rs773144997
|
0.00002
|
NM_198576.4(AGRN):c.3056C>T (p.Pro1019Leu)
|
rs756489447
|
0.00002
|
NM_198576.4(AGRN):c.3068G>A (p.Arg1023Gln)
|
rs775442981
|
0.00002
|
NM_198576.4(AGRN):c.3121G>A (p.Val1041Met)
|
rs779698930
|
0.00002
|
NM_198576.4(AGRN):c.3409G>A (p.Val1137Ile)
|
rs778480770
|
0.00002
|
NM_198576.4(AGRN):c.3460A>G (p.Met1154Val)
|
rs371617418
|
0.00002
|
NM_198576.4(AGRN):c.3655G>A (p.Val1219Met)
|
rs770304448
|
0.00002
|
NM_198576.4(AGRN):c.3670C>T (p.Leu1224Phe)
|
rs753681540
|
0.00002
|
NM_198576.4(AGRN):c.3694C>T (p.Arg1232Cys)
|
rs777331097
|
0.00002
|
NM_198576.4(AGRN):c.3715C>T (p.Arg1239Trp)
|
rs571142975
|
0.00002
|
NM_198576.4(AGRN):c.3731A>G (p.His1244Arg)
|
rs759452317
|
0.00002
|
NM_198576.4(AGRN):c.4202G>A (p.Arg1401Gln)
|
rs777248655
|
0.00002
|
NM_198576.4(AGRN):c.4213C>T (p.Pro1405Ser)
|
rs777176463
|
0.00002
|
NM_198576.4(AGRN):c.4313C>T (p.Ser1438Leu)
|
rs1460707518
|
0.00002
|
NM_198576.4(AGRN):c.4802C>T (p.Ala1601Val)
|
rs749035094
|
0.00002
|
NM_198576.4(AGRN):c.4811G>A (p.Arg1604His)
|
rs772811721
|
0.00002
|
NM_198576.4(AGRN):c.4869C>A (p.Phe1623Leu)
|
rs748076659
|
0.00002
|
NM_198576.4(AGRN):c.4879+9C>T
|
rs373653720
|
0.00002
|
NM_198576.4(AGRN):c.4894G>A (p.Gly1632Ser)
|
rs774044262
|
0.00002
|
NM_198576.4(AGRN):c.4911G>A (p.Leu1637=)
|
rs185377620
|
0.00002
|
NM_198576.4(AGRN):c.503C>T (p.Pro168Leu)
|
rs774527175
|
0.00002
|
NM_198576.4(AGRN):c.5096G>A (p.Arg1699His)
|
rs777269140
|
0.00002
|
NM_198576.4(AGRN):c.5113G>A (p.Asp1705Asn)
|
rs563299889
|
0.00002
|
NM_198576.4(AGRN):c.5152C>A (p.Pro1718Thr)
|
rs375621931
|
0.00002
|
NM_198576.4(AGRN):c.5261A>C (p.His1754Pro)
|
rs1023027486
|
0.00002
|
NM_198576.4(AGRN):c.5285C>T (p.Pro1762Leu)
|
rs764764048
|
0.00002
|
NM_198576.4(AGRN):c.5339T>C (p.Val1780Ala)
|
rs369070635
|
0.00002
|
NM_198576.4(AGRN):c.5387G>A (p.Arg1796His)
|
rs774881136
|
0.00002
|
NM_198576.4(AGRN):c.5422G>A (p.Val1808Met)
|
rs1356478300
|
0.00002
|
NM_198576.4(AGRN):c.5428G>A (p.Val1810Ile)
|
rs375518121
|
0.00002
|
NM_198576.4(AGRN):c.5459G>A (p.Arg1820Gln)
|
rs1170138989
|
0.00002
|
NM_198576.4(AGRN):c.5465C>T (p.Ser1822Leu)
|
rs150946585
|
0.00002
|
NM_198576.4(AGRN):c.5549C>T (p.Pro1850Leu)
|
rs374138541
|
0.00002
|
NM_198576.4(AGRN):c.554C>G (p.Pro185Arg)
|
rs1439165940
|
0.00002
|
NM_198576.4(AGRN):c.5556C>T (p.Cys1852=)
|
rs538293035
|
0.00002
|
NM_198576.4(AGRN):c.5590G>A (p.Val1864Met)
|
rs774612575
|
0.00002
|
NM_198576.4(AGRN):c.5653G>A (p.Glu1885Lys)
|
rs374127077
|
0.00002
|
NM_198576.4(AGRN):c.574C>T (p.Arg192Trp)
|
rs1056434535
|
0.00002
|
NM_198576.4(AGRN):c.5852G>A (p.Arg1951His)
|
rs141914965
|
0.00002
|
NM_198576.4(AGRN):c.5936C>T (p.Pro1979Leu)
|
rs750764002
|
0.00002
|
NM_198576.4(AGRN):c.5988_6008dup (p.Pro1997_Pro2003dup)
|
rs747557413
|
0.00002
|
NM_198576.4(AGRN):c.5989C>T (p.Pro1997Ser)
|
rs748233230
|
0.00002
|
NM_198576.4(AGRN):c.6055G>A (p.Asp2019Asn)
|
rs755342940
|
0.00002
|
NM_198576.4(AGRN):c.689A>G (p.Gln230Arg)
|
rs767155884
|
0.00002
|
NM_198576.4(AGRN):c.836C>T (p.Ala279Val)
|
rs747952589
|
0.00002
|
NM_198576.4(AGRN):c.910G>A (p.Ala304Thr)
|
rs764915525
|
0.00002
|
NM_198576.4(AGRN):c.955C>T (p.Pro319Ser)
|
rs1445446461
|
0.00002
|
NM_198576.4(AGRN):c.95C>T (p.Pro32Leu)
|
rs1194105483
|
0.00002
|
NM_000080.4(CHRNE):c.-96C>T
|
rs748144899
|
0.00001
|
NM_000080.4(CHRNE):c.1003A>G (p.Thr335Ala)
|
rs1216965153
|
0.00001
|
NM_000080.4(CHRNE):c.1027C>T (p.Arg343Cys)
|
rs1422523453
|
0.00001
|
NM_000080.4(CHRNE):c.1030C>G (p.His344Asp)
|
rs886053125
|
0.00001
|
NM_000080.4(CHRNE):c.1052C>T (p.Pro351Leu)
|
rs1168592296
|
0.00001
|
NM_000080.4(CHRNE):c.1066T>C (p.Ser356Pro)
|
rs954120463
|
0.00001
|
NM_000080.4(CHRNE):c.1078C>T (p.Pro360Ser)
|
rs998988224
|
0.00001
|
NM_000080.4(CHRNE):c.1093G>A (p.Ala365Thr)
|
rs780327519
|
0.00001
|
NM_000080.4(CHRNE):c.1141G>A (p.Ala381Thr)
|
rs547989166
|
0.00001
|
NM_000080.4(CHRNE):c.1255G>A (p.Glu419Lys)
|
rs754975887
|
0.00001
|
NM_000080.4(CHRNE):c.1261C>T (p.Arg421Cys)
|
rs369709668
|
0.00001
|
NM_000080.4(CHRNE):c.1279G>A (p.Val427Met)
|
rs780122731
|
0.00001
|
NM_000080.4(CHRNE):c.1288G>A (p.Val430Met)
|
rs1348466102
|
0.00001
|
NM_000080.4(CHRNE):c.1323C>T (p.Gly441=)
|
rs758517310
|
0.00001
|
NM_000080.4(CHRNE):c.1370T>C (p.Ile457Thr)
|
rs1361578187
|
0.00001
|
NM_000080.4(CHRNE):c.1424T>A (p.Leu475His)
|
rs764935677
|
0.00001
|
NM_000080.4(CHRNE):c.1453C>T (p.Leu485Phe)
|
rs1085307690
|
0.00001
|
NM_000080.4(CHRNE):c.1471A>G (p.Ile491Val)
|
rs753512613
|
0.00001
|
NM_000080.4(CHRNE):c.26T>G (p.Leu9Arg)
|
rs1344336890
|
0.00001
|
NM_000080.4(CHRNE):c.311T>C (p.Leu104Pro)
|
rs772495418
|
0.00001
|
NM_000080.4(CHRNE):c.345T>A (p.Asn115Lys)
|
rs1388515362
|
0.00001
|
NM_000080.4(CHRNE):c.359T>C (p.Phe120Ser)
|
rs771356927
|
0.00001
|
NM_000080.4(CHRNE):c.362G>T (p.Gly121Val)
|
rs746582621
|
0.00001
|
NM_000080.4(CHRNE):c.373G>A (p.Asp125Asn)
|
rs1056080125
|
0.00001
|
NM_000080.4(CHRNE):c.428T>C (p.Ile143Thr)
|
rs1484300953
|
0.00001
|
NM_000080.4(CHRNE):c.46+4_46+8del
|
rs1388295687
|
0.00001
|
NM_000080.4(CHRNE):c.46G>A (p.Gly16Ser)
|
rs764552360
|
0.00001
|
NM_000080.4(CHRNE):c.520G>A (p.Glu174Lys)
|
rs1597620368
|
0.00001
|
NM_000080.4(CHRNE):c.544G>C (p.Val182Leu)
|
rs1198430909
|
0.00001
|
NM_000080.4(CHRNE):c.580A>T (p.Ile194Phe)
|
rs1020146692
|
0.00001
|
NM_000080.4(CHRNE):c.637G>A (p.Val213Met)
|
rs1174721586
|
0.00001
|
NM_000080.4(CHRNE):c.646C>T (p.Arg216Cys)
|
rs577641512
|
0.00001
|
NM_000080.4(CHRNE):c.647G>A (p.Arg216His)
|
rs1359029030
|
0.00001
|
NM_000080.4(CHRNE):c.654C>G (p.His218Gln)
|
rs751388919
|
0.00001
|
NM_000080.4(CHRNE):c.691A>G (p.Ile231Val)
|
rs1226552673
|
0.00001
|
NM_000080.4(CHRNE):c.745G>A (p.Val249Met)
|
rs757421529
|
0.00001
|
NM_000080.4(CHRNE):c.76C>T (p.Arg26Cys)
|
rs773131873
|
0.00001
|
NM_000080.4(CHRNE):c.856T>G (p.Phe286Val)
|
rs756844933
|
0.00001
|
NM_000747.3(CHRNB1):c.1004G>A (p.Arg335His)
|
rs746417364
|
0.00001
|
NM_000747.3(CHRNB1):c.1033T>G (p.Trp345Gly)
|
rs1909002019
|
0.00001
|
NM_000747.3(CHRNB1):c.1040G>A (p.Arg347His)
|
rs371142002
|
0.00001
|
NM_000747.3(CHRNB1):c.1139G>C (p.Gly380Ala)
|
rs1377352531
|
0.00001
|
NM_000747.3(CHRNB1):c.1177C>G (p.Arg393Gly)
|
rs2069939028
|
0.00001
|
NM_000747.3(CHRNB1):c.1210C>T (p.Pro404Ser)
|
rs1199729169
|
0.00001
|
NM_000747.3(CHRNB1):c.1418G>A (p.Trp473Ter)
|
rs772731018
|
0.00001
|
NM_000747.3(CHRNB1):c.1441G>T (p.Val481Phe)
|
rs1205517699
|
0.00001
|
NM_000747.3(CHRNB1):c.1448C>T (p.Thr483Ile)
|
rs369847025
|
0.00001
|
NM_000747.3(CHRNB1):c.1472C>A (p.Thr491Lys)
|
rs750490746
|
0.00001
|
NM_000747.3(CHRNB1):c.221G>T (p.Ser74Ile)
|
rs752436749
|
0.00001
|
NM_000747.3(CHRNB1):c.236T>C (p.Leu79Ser)
|
rs142801700
|
0.00001
|
NM_000747.3(CHRNB1):c.240C>G (p.Asp80Glu)
|
rs373533921
|
0.00001
|
NM_000747.3(CHRNB1):c.302T>C (p.Leu101Pro)
|
rs1028687450
|
0.00001
|
NM_000747.3(CHRNB1):c.343C>G (p.Leu115Val)
|
rs757084012
|
0.00001
|
NM_000747.3(CHRNB1):c.373G>A (p.Val125Met)
|
rs148584502
|
0.00001
|
NM_000747.3(CHRNB1):c.44C>T (p.Ala15Val)
|
rs75926342
|
0.00001
|
NM_000747.3(CHRNB1):c.472T>C (p.Phe158Leu)
|
rs961261483
|
0.00001
|
NM_000747.3(CHRNB1):c.530C>T (p.Ser177Leu)
|
rs760659917
|
0.00001
|
NM_000747.3(CHRNB1):c.532G>C (p.Glu178Gln)
|
rs1475474681
|
0.00001
|
NM_000747.3(CHRNB1):c.56C>A (p.Pro19Gln)
|
rs759176796
|
0.00001
|
NM_000747.3(CHRNB1):c.5C>T (p.Thr2Ile)
|
rs567015720
|
0.00001
|
NM_000747.3(CHRNB1):c.646C>T (p.Arg216Trp)
|
rs780988754
|
0.00001
|
NM_000747.3(CHRNB1):c.706A>C (p.Ile236Leu)
|
rs1908763989
|
0.00001
|
NM_000747.3(CHRNB1):c.724C>T (p.Arg242Cys)
|
rs200962487
|
0.00001
|
NM_000747.3(CHRNB1):c.86G>C (p.Arg29Pro)
|
rs767799511
|
0.00001
|
NM_000747.3(CHRNB1):c.898G>C (p.Glu300Gln)
|
rs945086307
|
0.00001
|
NM_000747.3(CHRNB1):c.938T>C (p.Met313Thr)
|
rs375505960
|
0.00001
|
NM_000747.3(CHRNB1):c.983T>C (p.Val328Ala)
|
rs1247175818
|
0.00001
|
NM_001171613.2(PREPL):c.-15C>A
|
rs747135582
|
0.00001
|
NM_001171613.2(PREPL):c.-49+1674A>G
|
rs1677455092
|
0.00001
|
NM_001171613.2(PREPL):c.-49+1678C>G
|
rs1217582584
|
0.00001
|
NM_001171613.2(PREPL):c.-49+1707A>G
|
rs767151252
|
0.00001
|
NM_001171613.2(PREPL):c.-49+1744A>G
|
rs753994518
|
0.00001
|
NM_001171613.2(PREPL):c.-49+1839T>C
|
rs375878651
|
0.00001
|
NM_001171613.2(PREPL):c.-49+1857A>G
|
rs1677431287
|
0.00001
|
NM_001171613.2(PREPL):c.1000G>T (p.Ala334Ser)
|
rs778521381
|
0.00001
|
NM_001171613.2(PREPL):c.1055G>C (p.Ser352Thr)
|
rs182129466
|
0.00001
|
NM_001171613.2(PREPL):c.1058G>A (p.Arg353His)
|
rs766402014
|
0.00001
|
NM_001171613.2(PREPL):c.1069C>G (p.Leu357Val)
|
rs1357123285
|
0.00001
|
NM_001171613.2(PREPL):c.1086+4G>A
|
rs781546038
|
0.00001
|
NM_001171613.2(PREPL):c.1184T>C (p.Met395Thr)
|
rs763916560
|
0.00001
|
NM_001171613.2(PREPL):c.1185G>A (p.Met395Ile)
|
rs762704106
|
0.00001
|
NM_001171613.2(PREPL):c.1216C>T (p.Arg406Trp)
|
rs762344284
|
0.00001
|
NM_001171613.2(PREPL):c.1225G>T (p.Val409Leu)
|
rs1287814553
|
0.00001
|
NM_001171613.2(PREPL):c.124C>T (p.Arg42Cys)
|
rs367690689
|
0.00001
|
NM_001171613.2(PREPL):c.1256A>G (p.His419Arg)
|
rs1470203044
|
0.00001
|
NM_001171613.2(PREPL):c.1262G>A (p.Arg421Gln)
|
rs754572953
|
0.00001
|
NM_001171613.2(PREPL):c.1300G>A (p.Gly434Ser)
|
rs1240292748
|
0.00001
|
NM_001171613.2(PREPL):c.1368A>C (p.Gln456His)
|
rs760125213
|
0.00001
|
NM_001171613.2(PREPL):c.1396C>G (p.Leu466Val)
|
rs772025933
|
0.00001
|
NM_001171613.2(PREPL):c.1406T>G (p.Phe469Cys)
|
rs749238316
|
0.00001
|
NM_001171613.2(PREPL):c.1546G>A (p.Glu516Lys)
|
rs1367878747
|
0.00001
|
NM_001171613.2(PREPL):c.1558A>C (p.Asn520His)
|
rs371835756
|
0.00001
|
NM_001171613.2(PREPL):c.1591A>G (p.Ile531Val)
|
rs1673166427
|
0.00001
|
NM_001171613.2(PREPL):c.1610A>G (p.Tyr537Cys)
|
rs761490421
|
0.00001
|
NM_001171613.2(PREPL):c.1630-3del
|
rs1406333731
|
0.00001
|
NM_001171613.2(PREPL):c.1631A>T (p.His544Leu)
|
rs768704646
|
0.00001
|
NM_001171613.2(PREPL):c.163G>C (p.Val55Leu)
|
rs1422302131
|
0.00001
|
NM_001171613.2(PREPL):c.1673G>A (p.Arg558Gln)
|
rs140355063
|
0.00001
|
NM_001171613.2(PREPL):c.1685A>T (p.Lys562Ile)
|
rs377760743
|
0.00001
|
NM_001171613.2(PREPL):c.1711C>G (p.Leu571Val)
|
rs1282041334
|
0.00001
|
NM_001171613.2(PREPL):c.1748G>A (p.Gly583Asp)
|
rs752333096
|
0.00001
|
NM_001171613.2(PREPL):c.1753+5G>A
|
rs1380245814
|
0.00001
|
NM_001171613.2(PREPL):c.1796G>A (p.Gly599Asp)
|
rs537911061
|
0.00001
|
NM_001171613.2(PREPL):c.1808T>C (p.Ile603Thr)
|
rs748104886
|
0.00001
|
NM_001171613.2(PREPL):c.1881T>A (p.Ser627Arg)
|
rs1310992094
|
0.00001
|
NM_001171613.2(PREPL):c.217A>G (p.Arg73Gly)
|
rs375731883
|
0.00001
|
NM_001171613.2(PREPL):c.22A>G (p.Arg8Gly)
|
rs137924736
|
0.00001
|
NM_001171613.2(PREPL):c.301A>G (p.Ser101Gly)
|
rs779895293
|
0.00001
|
NM_001171613.2(PREPL):c.313G>A (p.Val105Ile)
|
rs763621305
|
0.00001
|
NM_001171613.2(PREPL):c.318G>A (p.Met106Ile)
|
rs1231458004
|
0.00001
|
NM_001171613.2(PREPL):c.404A>C (p.Asn135Thr)
|
rs1358654485
|
0.00001
|
NM_001171613.2(PREPL):c.419A>T (p.Asp140Val)
|
rs367992937
|
0.00001
|
NM_001171613.2(PREPL):c.422T>G (p.Val141Gly)
|
rs1675330234
|
0.00001
|
NM_001171613.2(PREPL):c.425A>G (p.Tyr142Cys)
|
rs778744293
|
0.00001
|
NM_001171613.2(PREPL):c.451C>T (p.Arg151Cys)
|
rs752120139
|
0.00001
|
NM_001171613.2(PREPL):c.460C>T (p.Arg154Cys)
|
rs146183409
|
0.00001
|
NM_001171613.2(PREPL):c.538A>G (p.Ile180Val)
|
rs1266141014
|
0.00001
|
NM_001171613.2(PREPL):c.592G>A (p.Asp198Asn)
|
rs748610072
|
0.00001
|
NM_001171613.2(PREPL):c.644A>G (p.Glu215Gly)
|
rs757445054
|
0.00001
|
NM_001171613.2(PREPL):c.649A>G (p.Arg217Gly)
|
rs751520171
|
0.00001
|
NM_001171613.2(PREPL):c.664T>C (p.Tyr222His)
|
rs764951966
|
0.00001
|
NM_001171613.2(PREPL):c.67A>G (p.Asn23Asp)
|
rs369131230
|
0.00001
|
NM_001171613.2(PREPL):c.76G>T (p.Val26Phe)
|
rs1241633455
|
0.00001
|
NM_001171613.2(PREPL):c.7G>A (p.Ala3Thr)
|
rs779882139
|
0.00001
|
NM_001171613.2(PREPL):c.814C>G (p.Leu272Val)
|
rs1209850032
|
0.00001
|
NM_001171613.2(PREPL):c.818T>C (p.Phe273Ser)
|
rs1347512792
|
0.00001
|
NM_001171613.2(PREPL):c.871T>A (p.Ser291Thr)
|
rs755882009
|
0.00001
|
NM_001171613.2(PREPL):c.961T>C (p.Ser321Pro)
|
rs1367770744
|
0.00001
|
NM_001244710.2(GFPT1):c.1001T>A (p.Ile334Asn)
|
rs1285177343
|
0.00001
|
NM_001244710.2(GFPT1):c.118G>T (p.Val40Leu)
|
rs1247230551
|
0.00001
|
NM_001244710.2(GFPT1):c.133G>A (p.Gly45Ser)
|
rs914867145
|
0.00001
|
NM_001244710.2(GFPT1):c.1354C>T (p.Arg452Cys)
|
rs759081713
|
0.00001
|
NM_001244710.2(GFPT1):c.1483G>T (p.Ala495Ser)
|
rs1438504838
|
0.00001
|
NM_001244710.2(GFPT1):c.1501G>A (p.Val501Ile)
|
rs1279403583
|
0.00001
|
NM_001244710.2(GFPT1):c.1610A>C (p.Glu537Ala)
|
rs988021644
|
0.00001
|
NM_001244710.2(GFPT1):c.1624G>T (p.Asp542Tyr)
|
rs1308915445
|
0.00001
|
NM_001244710.2(GFPT1):c.1919A>G (p.Lys640Arg)
|
rs772640415
|
0.00001
|
NM_001244710.2(GFPT1):c.1962G>C (p.Lys654Asn)
|
rs368208403
|
0.00001
|
NM_001244710.2(GFPT1):c.2055+3A>G
|
rs937857366
|
0.00001
|
NM_001244710.2(GFPT1):c.245A>G (p.Asp82Gly)
|
rs192925673
|
0.00001
|
NM_001244710.2(GFPT1):c.275C>G (p.Ala92Gly)
|
rs755890938
|
0.00001
|
NM_001244710.2(GFPT1):c.484A>C (p.Asn162His)
|
rs987906924
|
0.00001
|
NM_001244710.2(GFPT1):c.488G>A (p.Arg163Gln)
|
rs1034928233
|
0.00001
|
NM_001244710.2(GFPT1):c.589C>G (p.Gln197Glu)
|
rs773850508
|
0.00001
|
NM_001244710.2(GFPT1):c.606-3C>T
|
rs1286081479
|
0.00001
|
NM_001244710.2(GFPT1):c.670A>G (p.Ile224Val)
|
rs1489383761
|
0.00001
|
NM_001244710.2(GFPT1):c.883G>A (p.Glu295Lys)
|
rs764200601
|
0.00001
|
NM_001382.4(DPAGT1):c.1018C>T (p.Leu340Phe)
|
rs376996734
|
0.00001
|
NM_001382.4(DPAGT1):c.1024C>G (p.Leu342Val)
|
rs555841797
|
0.00001
|
NM_001382.4(DPAGT1):c.1037A>G (p.His346Arg)
|
rs1301940016
|
0.00001
|
NM_001382.4(DPAGT1):c.1192C>T (p.Arg398Ter)
|
rs187919120
|
0.00001
|
NM_001382.4(DPAGT1):c.1204G>A (p.Val402Ile)
|
rs779911586
|
0.00001
|
NM_001382.4(DPAGT1):c.1210C>T (p.Leu404Phe)
|
rs1272156856
|
0.00001
|
NM_001382.4(DPAGT1):c.161+6C>T
|
rs762402071
|
0.00001
|
NM_001382.4(DPAGT1):c.175G>A (p.Gly59Arg)
|
rs1041735569
|
0.00001
|
NM_001382.4(DPAGT1):c.277C>G (p.His93Asp)
|
rs1234809605
|
0.00001
|
NM_001382.4(DPAGT1):c.332T>G (p.Leu111Arg)
|
rs759595271
|
0.00001
|
NM_001382.4(DPAGT1):c.359T>A (p.Leu120Gln)
|
rs368415403
|
0.00001
|
NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys)
|
rs746187785
|
0.00001
|
NM_001382.4(DPAGT1):c.412A>G (p.Met138Val)
|
rs532412952
|
0.00001
|
NM_001382.4(DPAGT1):c.460C>T (p.Pro154Ser)
|
rs1229553796
|
0.00001
|
NM_001382.4(DPAGT1):c.466C>T (p.Arg156Cys)
|
rs762796464
|
0.00001
|
NM_001382.4(DPAGT1):c.470C>T (p.Pro157Leu)
|
rs1328286236
|
0.00001
|
NM_001382.4(DPAGT1):c.485A>G (p.His162Arg)
|
rs775716973
|
0.00001
|
NM_001382.4(DPAGT1):c.495G>A (p.Leu165=)
|
rs373632825
|
0.00001
|
NM_001382.4(DPAGT1):c.652C>T (p.Arg218Trp)
|
rs1053302601
|
0.00001
|
NM_001382.4(DPAGT1):c.729-10C>A
|
rs1413156382
|
0.00001
|
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp)
|
rs772988029
|
0.00001
|
NM_001382.4(DPAGT1):c.868C>G (p.Leu290Val)
|
rs376322200
|
0.00001
|
NM_001382.4(DPAGT1):c.901C>T (p.Arg301Cys)
|
rs776632995
|
0.00001
|
NM_002334.4(LRP4):c.1001T>G (p.Val334Gly)
|
rs767110056
|
0.00001
|
NM_002334.4(LRP4):c.1063G>A (p.Glu355Lys)
|
rs1446754894
|
0.00001
|
NM_002334.4(LRP4):c.1154G>A (p.Arg385Gln)
|
rs772931812
|
0.00001
|
NM_002334.4(LRP4):c.1175C>T (p.Thr392Met)
|
rs776484311
|
0.00001
|
NM_002334.4(LRP4):c.1255T>G (p.Trp419Gly)
|
rs1032020389
|
0.00001
|
NM_002334.4(LRP4):c.1438G>C (p.Glu480Gln)
|
rs201502598
|
0.00001
|
NM_002334.4(LRP4):c.1510G>A (p.Glu504Lys)
|
rs760105990
|
0.00001
|
NM_002334.4(LRP4):c.1538C>G (p.Pro513Arg)
|
rs748357296
|
0.00001
|
NM_002334.4(LRP4):c.1633C>T (p.Arg545Trp)
|
rs371763360
|
0.00001
|
NM_002334.4(LRP4):c.1696G>A (p.Gly566Ser)
|
rs1941453950
|
0.00001
|
NM_002334.4(LRP4):c.1780G>A (p.Asp594Asn)
|
rs779387728
|
0.00001
|
NM_002334.4(LRP4):c.1829G>A (p.Arg610His)
|
rs17848218
|
0.00001
|
NM_002334.4(LRP4):c.1831C>T (p.Arg611Cys)
|
rs771793515
|
0.00001
|
NM_002334.4(LRP4):c.2009C>T (p.Thr670Met)
|
rs752512047
|
0.00001
|
NM_002334.4(LRP4):c.2129C>T (p.Thr710Met)
|
rs777222715
|
0.00001
|
NM_002334.4(LRP4):c.2216-3C>T
|
rs555994387
|
0.00001
|
NM_002334.4(LRP4):c.2243G>A (p.Arg748Gln)
|
rs545112106
|
0.00001
|
NM_002334.4(LRP4):c.2317C>T (p.Arg773Cys)
|
rs376444422
|
0.00001
|
NM_002334.4(LRP4):c.2374G>A (p.Val792Ile)
|
rs190872977
|
0.00001
|
NM_002334.4(LRP4):c.2570A>C (p.Asn857Thr)
|
rs754708237
|
0.00001
|
NM_002334.4(LRP4):c.2593G>A (p.Val865Met)
|
rs765202931
|
0.00001
|
NM_002334.4(LRP4):c.2609G>A (p.Gly870Asp)
|
rs776260999
|
0.00001
|
NM_002334.4(LRP4):c.2746C>T (p.Arg916Cys)
|
rs147259655
|
0.00001
|
NM_002334.4(LRP4):c.2917C>T (p.Arg973Trp)
|
rs368011278
|
0.00001
|
NM_002334.4(LRP4):c.2935C>T (p.Arg979Trp)
|
rs757565682
|
0.00001
|
NM_002334.4(LRP4):c.3067C>T (p.Pro1023Ser)
|
rs201695857
|
0.00001
|
NM_002334.4(LRP4):c.317C>T (p.Pro106Leu)
|
rs556889686
|
0.00001
|
NM_002334.4(LRP4):c.322C>T (p.Arg108Trp)
|
rs775191643
|
0.00001
|
NM_002334.4(LRP4):c.3331G>A (p.Asp1111Asn)
|
rs770071302
|
0.00001
|
NM_002334.4(LRP4):c.3473G>A (p.Arg1158Gln)
|
rs150306458
|
0.00001
|
NM_002334.4(LRP4):c.3537G>T (p.Gly1179=)
|
rs767837337
|
0.00001
|
NM_002334.4(LRP4):c.3555C>G (p.Asp1185Glu)
|
rs1189743163
|
0.00001
|
NM_002334.4(LRP4):c.3580C>T (p.Arg1194Trp)
|
rs746573834
|
0.00001
|
NM_002334.4(LRP4):c.3586G>A (p.Gly1196Arg)
|
rs745459741
|
0.00001
|
NM_002334.4(LRP4):c.3607G>A (p.Ala1203Thr)
|
rs752888601
|
0.00001
|
NM_002334.4(LRP4):c.3699+5G>C
|
rs745544336
|
0.00001
|
NM_002334.4(LRP4):c.3731A>G (p.Asn1244Ser)
|
rs376299085
|
0.00001
|
NM_002334.4(LRP4):c.3830G>A (p.Arg1277His)
|
rs746136135
|
0.00001
|
NM_002334.4(LRP4):c.3839A>G (p.Lys1280Arg)
|
rs371205300
|
0.00001
|
NM_002334.4(LRP4):c.3865G>A (p.Val1289Met)
|
rs756641717
|
0.00001
|
NM_002334.4(LRP4):c.3919C>T (p.Pro1307Ser)
|
rs771126504
|
0.00001
|
NM_002334.4(LRP4):c.4043G>A (p.Cys1348Tyr)
|
rs1940969409
|
0.00001
|
NM_002334.4(LRP4):c.4109A>G (p.Asp1370Gly)
|
rs1565782159
|
0.00001
|
NM_002334.4(LRP4):c.4134T>A (p.His1378Gln)
|
rs763442262
|
0.00001
|
NM_002334.4(LRP4):c.4154A>G (p.Asn1385Ser)
|
rs768733310
|
0.00001
|
NM_002334.4(LRP4):c.4222G>A (p.Val1408Ile)
|
rs777975583
|
0.00001
|
NM_002334.4(LRP4):c.4250G>A (p.Ser1417Asn)
|
rs758719937
|
0.00001
|
NM_002334.4(LRP4):c.4270G>A (p.Gly1424Arg)
|
rs1026948492
|
0.00001
|
NM_002334.4(LRP4):c.429T>C (p.Cys143=)
|
rs1486932718
|
0.00001
|
NM_002334.4(LRP4):c.4369C>G (p.Leu1457Val)
|
rs571418643
|
0.00001
|
NM_002334.4(LRP4):c.4379C>T (p.Ser1460Phe)
|
rs61738061
|
0.00001
|
NM_002334.4(LRP4):c.4385G>A (p.Arg1462His)
|
rs777932389
|
0.00001
|
NM_002334.4(LRP4):c.4432G>C (p.Val1478Leu)
|
rs764880010
|
0.00001
|
NM_002334.4(LRP4):c.446C>T (p.Ser149Phe)
|
rs1239578585
|
0.00001
|
NM_002334.4(LRP4):c.4493G>A (p.Arg1498Gln)
|
rs764079526
|
0.00001
|
NM_002334.4(LRP4):c.4525C>T (p.Leu1509Phe)
|
rs1940914910
|
0.00001
|
NM_002334.4(LRP4):c.4544G>C (p.Gly1515Ala)
|
rs758635404
|
0.00001
|
NM_002334.4(LRP4):c.4579C>T (p.Arg1527Cys)
|
rs756059712
|
0.00001
|
NM_002334.4(LRP4):c.461G>A (p.Arg154His)
|
rs748199837
|
0.00001
|
NM_002334.4(LRP4):c.4634A>G (p.Asn1545Ser)
|
rs142352845
|
0.00001
|
NM_002334.4(LRP4):c.4741C>T (p.Arg1581Cys)
|
rs771144609
|
0.00001
|
NM_002334.4(LRP4):c.4763G>A (p.Arg1588Gln)
|
rs746746234
|
0.00001
|
NM_002334.4(LRP4):c.4829G>A (p.Arg1610Gln)
|
rs756543033
|
0.00001
|
NM_002334.4(LRP4):c.4943G>C (p.Cys1648Ser)
|
rs769497270
|
0.00001
|
NM_002334.4(LRP4):c.4981G>A (p.Ala1661Thr)
|
rs768284053
|
0.00001
|
NM_002334.4(LRP4):c.5071G>A (p.Glu1691Lys)
|
rs528376810
|
0.00001
|
NM_002334.4(LRP4):c.5101G>A (p.Asp1701Asn)
|
rs1241649761
|
0.00001
|
NM_002334.4(LRP4):c.5234T>C (p.Met1745Thr)
|
rs776705313
|
0.00001
|
NM_002334.4(LRP4):c.5362A>C (p.Asn1788His)
|
rs1208850907
|
0.00001
|
NM_002334.4(LRP4):c.541A>G (p.Asn181Asp)
|
rs1208569811
|
0.00001
|
NM_002334.4(LRP4):c.5428G>A (p.Val1810Ile)
|
rs779299308
|
0.00001
|
NM_002334.4(LRP4):c.547C>T (p.Pro183Ser)
|
rs765567296
|
0.00001
|
NM_002334.4(LRP4):c.5585C>T (p.Thr1862Met)
|
rs368840169
|
0.00001
|
NM_002334.4(LRP4):c.5618G>A (p.Cys1873Tyr)
|
rs1312872252
|
0.00001
|
NM_002334.4(LRP4):c.563C>T (p.Ala188Val)
|
rs772245536
|
0.00001
|
NM_002334.4(LRP4):c.65G>T (p.Ser22Ile)
|
rs777229906
|
0.00001
|
NM_002334.4(LRP4):c.688C>G (p.Pro230Ala)
|
rs773770584
|
0.00001
|
NM_002334.4(LRP4):c.746G>A (p.Arg249His)
|
rs780066978
|
0.00001
|
NM_002334.4(LRP4):c.806T>C (p.Met269Thr)
|
rs776417067
|
0.00001
|
NM_002334.4(LRP4):c.812C>T (p.Thr271Met)
|
rs768904639
|
0.00001
|
NM_002334.4(LRP4):c.851G>A (p.Arg284His)
|
rs369307795
|
0.00001
|
NM_002334.4(LRP4):c.963T>A (p.Asn321Lys)
|
rs1257559745
|
0.00001
|
NM_002334.4(LRP4):c.974T>C (p.Ile325Thr)
|
rs753709386
|
0.00001
|
NM_005055.5(RAPSN):c.1010G>A (p.Arg337His)
|
rs768445220
|
0.00001
|
NM_005055.5(RAPSN):c.1028G>A (p.Arg343Gln)
|
rs757902272
|
0.00001
|
NM_005055.5(RAPSN):c.1036C>T (p.Arg346Trp)
|
rs529117281
|
0.00001
|
NM_005055.5(RAPSN):c.1076C>T (p.Thr359Met)
|
rs768394140
|
0.00001
|
NM_005055.5(RAPSN):c.1081C>G (p.Leu361Val)
|
rs1231669536
|
0.00001
|
NM_005055.5(RAPSN):c.1102G>A (p.Glu368Lys)
|
rs756519962
|
0.00001
|
NM_005055.5(RAPSN):c.1113C>T (p.Gly371=)
|
rs150503333
|
0.00001
|
NM_005055.5(RAPSN):c.1181A>G (p.Asn394Ser)
|
rs370123138
|
0.00001
|
NM_005055.5(RAPSN):c.1207C>T (p.Arg403Cys)
|
rs1165174416
|
0.00001
|
NM_005055.5(RAPSN):c.1216T>A (p.Ser406Thr)
|
rs1486159580
|
0.00001
|
NM_005055.5(RAPSN):c.161C>T (p.Ser54Leu)
|
rs750772292
|
0.00001
|
NM_005055.5(RAPSN):c.220C>T (p.Arg74Trp)
|
rs778157857
|
0.00001
|
NM_005055.5(RAPSN):c.221G>A (p.Arg74Gln)
|
rs568433059
|
0.00001
|
NM_005055.5(RAPSN):c.22C>A (p.Gln8Lys)
|
rs11556408
|
0.00001
|
NM_005055.5(RAPSN):c.238G>A (p.Asp80Asn)
|
rs781724566
|
0.00001
|
NM_005055.5(RAPSN):c.310T>G (p.Ser104Ala)
|
rs770016019
|
0.00001
|
NM_005055.5(RAPSN):c.317G>A (p.Cys106Tyr)
|
rs1341207988
|
0.00001
|
NM_005055.5(RAPSN):c.328C>T (p.Leu110Phe)
|
rs1164228546
|
0.00001
|
NM_005055.5(RAPSN):c.33G>C (p.Glu11Asp)
|
rs1047615316
|
0.00001
|
NM_005055.5(RAPSN):c.40C>T (p.Leu14Phe)
|
rs1256816164
|
0.00001
|
NM_005055.5(RAPSN):c.43C>A (p.Gln15Lys)
|
rs1326936118
|
0.00001
|
NM_005055.5(RAPSN):c.451C>T (p.Arg151Cys)
|
rs148600999
|
0.00001
|
NM_005055.5(RAPSN):c.479T>C (p.Met160Thr)
|
rs780985479
|
0.00001
|
NM_005055.5(RAPSN):c.538G>A (p.Glu180Lys)
|
rs1452482859
|
0.00001
|
NM_005055.5(RAPSN):c.59A>T (p.Asn20Ile)
|
rs747627949
|
0.00001
|
NM_005055.5(RAPSN):c.613C>T (p.Arg205Trp)
|
rs756738642
|
0.00001
|
NM_005055.5(RAPSN):c.649C>T (p.Arg217Cys)
|
rs766845970
|
0.00001
|
NM_005055.5(RAPSN):c.662G>A (p.Arg221His)
|
rs1377574572
|
0.00001
|
NM_005055.5(RAPSN):c.690+14G>T
|
rs752360126
|
0.00001
|
NM_005055.5(RAPSN):c.725G>C (p.Arg242Pro)
|
rs780963721
|
0.00001
|
NM_005055.5(RAPSN):c.760G>A (p.Asp254Asn)
|
rs750888238
|
0.00001
|
NM_005055.5(RAPSN):c.769C>T (p.Arg257Trp)
|
rs753956536
|
0.00001
|
NM_005055.5(RAPSN):c.781G>A (p.Asp261Asn)
|
rs762865029
|
0.00001
|
NM_005055.5(RAPSN):c.82G>T (p.Val28Leu)
|
rs199984356
|
0.00001
|
NM_005055.5(RAPSN):c.912+6G>A
|
rs781362707
|
0.00001
|
NM_005592.4(MUSK):c.1063G>A (p.Ala355Thr)
|
rs758777519
|
0.00001
|
NM_005592.4(MUSK):c.1102C>T (p.Pro368Ser)
|
rs768323977
|
0.00001
|
NM_005592.4(MUSK):c.1119G>T (p.Leu373Phe)
|
rs747717789
|
0.00001
|
NM_005592.4(MUSK):c.1159G>T (p.Val387Leu)
|
rs770907001
|
0.00001
|
NM_005592.4(MUSK):c.1273G>A (p.Glu425Lys)
|
rs745722798
|
0.00001
|
NM_005592.4(MUSK):c.1279C>G (p.His427Asp)
|
rs751266636
|
0.00001
|
NM_005592.4(MUSK):c.1291G>A (p.Val431Met)
|
rs372013406
|
0.00001
|
NM_005592.4(MUSK):c.133G>C (p.Ala45Pro)
|
rs763800237
|
0.00001
|
NM_005592.4(MUSK):c.1360G>A (p.Asp454Asn)
|
rs202239254
|
0.00001
|
NM_005592.4(MUSK):c.1465T>C (p.Ser489Pro)
|
rs1161905783
|
0.00001
|
NM_005592.4(MUSK):c.1541C>T (p.Thr514Ile)
|
rs1467052958
|
0.00001
|
NM_005592.4(MUSK):c.1556G>A (p.Arg519Gln)
|
rs773818596
|
0.00001
|
NM_005592.4(MUSK):c.1744G>A (p.Gly582Arg)
|
rs202126269
|
0.00001
|
NM_005592.4(MUSK):c.1754C>T (p.Ala585Val)
|
rs953823198
|
0.00001
|
NM_005592.4(MUSK):c.1813A>G (p.Met605Val)
|
rs758777089
|
0.00001
|
NM_005592.4(MUSK):c.1895A>T (p.Glu632Val)
|
rs769807910
|
0.00001
|
NM_005592.4(MUSK):c.1915G>A (p.Val639Met)
|
rs766810675
|
0.00001
|
NM_005592.4(MUSK):c.1925T>C (p.Leu642Ser)
|
rs751851038
|
0.00001
|
NM_005592.4(MUSK):c.1969T>C (p.Tyr657His)
|
rs760452360
|
0.00001
|
NM_005592.4(MUSK):c.2002C>T (p.Arg668Cys)
|
rs754730206
|
0.00001
|
NM_005592.4(MUSK):c.206+5G>A
|
rs767539226
|
0.00001
|
NM_005592.4(MUSK):c.2065G>T (p.Val689Phe)
|
rs1464125081
|
0.00001
|
NM_005592.4(MUSK):c.2140G>C (p.Ala714Pro)
|
rs1377981904
|
0.00001
|
NM_005592.4(MUSK):c.2156G>A (p.Arg719His)
|
rs545173798
|
0.00001
|
NM_005592.4(MUSK):c.220C>T (p.Arg74Trp)
|
rs1370203787
|
0.00001
|
NM_005592.4(MUSK):c.221G>A (p.Arg74Gln)
|
rs758118087
|
0.00001
|
NM_005592.4(MUSK):c.2222T>C (p.Ile741Thr)
|
rs752514384
|
0.00001
|
NM_005592.4(MUSK):c.2332C>T (p.Arg778Cys)
|
rs750833487
|
0.00001
|
NM_005592.4(MUSK):c.2333G>A (p.Arg778His)
|
rs751712655
|
0.00001
|
NM_005592.4(MUSK):c.233G>A (p.Arg78Gln)
|
rs776815006
|
0.00001
|
NM_005592.4(MUSK):c.2346G>T (p.Glu782Asp)
|
rs34614566
|
0.00001
|
NM_005592.4(MUSK):c.2408A>G (p.Tyr803Cys)
|
rs376837791
|
0.00001
|
NM_005592.4(MUSK):c.242G>C (p.Gly81Ala)
|
rs1644805907
|
0.00001
|
NM_005592.4(MUSK):c.2430G>C (p.Glu810Asp)
|
rs1455145377
|
0.00001
|
NM_005592.4(MUSK):c.2507G>A (p.Arg836His)
|
rs371689428
|
0.00001
|
NM_005592.4(MUSK):c.2579G>T (p.Cys860Phe)
|
rs748071334
|
0.00001
|
NM_005592.4(MUSK):c.2581G>A (p.Glu861Lys)
|
rs1588054854
|
0.00001
|
NM_005592.4(MUSK):c.2600T>C (p.Val867Ala)
|
rs779710805
|
0.00001
|
NM_005592.4(MUSK):c.2608T>C (p.Ter870Gln)
|
rs201134491
|
0.00001
|
NM_005592.4(MUSK):c.296G>T (p.Cys99Phe)
|
rs760781844
|
0.00001
|
NM_005592.4(MUSK):c.315G>A (p.Val105=)
|
rs751133130
|
0.00001
|
NM_005592.4(MUSK):c.359-2dup
|
rs1185775471
|
0.00001
|
NM_005592.4(MUSK):c.430A>G (p.Thr144Ala)
|
rs1210600769
|
0.00001
|
NM_005592.4(MUSK):c.43C>A (p.Leu15Met)
|
rs746254848
|
0.00001
|
NM_005592.4(MUSK):c.441T>A (p.Asn147Lys)
|
rs1476034971
|
0.00001
|
NM_005592.4(MUSK):c.467A>T (p.Lys156Met)
|
rs1048310820
|
0.00001
|
NM_005592.4(MUSK):c.486+6T>G
|
rs763532251
|
0.00001
|
NM_005592.4(MUSK):c.538G>A (p.Val180Ile)
|
rs1468498564
|
0.00001
|
NM_005592.4(MUSK):c.557G>C (p.Gly186Ala)
|
rs373304727
|
0.00001
|
NM_005592.4(MUSK):c.58G>A (p.Gly20Arg)
|
rs758427621
|
0.00001
|
NM_005592.4(MUSK):c.593C>T (p.Thr198Ile)
|
rs561525761
|
0.00001
|
NM_005592.4(MUSK):c.635C>T (p.Ala212Val)
|
rs756953369
|
0.00001
|
NM_005592.4(MUSK):c.697T>C (p.Cys233Arg)
|
rs376911820
|
0.00001
|
NM_005592.4(MUSK):c.701C>T (p.Thr234Ile)
|
rs1170201682
|
0.00001
|
NM_005592.4(MUSK):c.745G>A (p.Gly249Arg)
|
rs1372004765
|
0.00001
|
NM_005592.4(MUSK):c.788A>C (p.Asp263Ala)
|
rs1187474550
|
0.00001
|
NM_005592.4(MUSK):c.791G>A (p.Arg264Gln)
|
rs193019632
|
0.00001
|
NM_005592.4(MUSK):c.872A>G (p.Lys291Arg)
|
rs752641780
|
0.00001
|
NM_005592.4(MUSK):c.875T>G (p.Phe292Cys)
|
rs1416891382
|
0.00001
|
NM_005677.4(COLQ):c.1006G>A (p.Ala336Thr)
|
rs1221084401
|
0.00001
|
NM_005677.4(COLQ):c.1211A>G (p.Tyr404Cys)
|
rs764064240
|
0.00001
|
NM_005677.4(COLQ):c.1214G>T (p.Cys405Phe)
|
rs1336071409
|
0.00001
|
NM_005677.4(COLQ):c.1339G>A (p.Asp447Asn)
|
rs770753693
|
0.00001
|
NM_005677.4(COLQ):c.1346C>T (p.Thr449Met)
|
rs1015425548
|
0.00001
|
NM_005677.4(COLQ):c.136G>A (p.Gly46Ser)
|
rs981504781
|
0.00001
|
NM_005677.4(COLQ):c.16C>T (p.Pro6Ser)
|
rs1314591935
|
0.00001
|
NM_005677.4(COLQ):c.188C>T (p.Pro63Leu)
|
rs1553637369
|
0.00001
|
NM_005677.4(COLQ):c.19A>G (p.Met7Val)
|
rs774887446
|
0.00001
|
NM_005677.4(COLQ):c.1A>G (p.Met1Val)
|
rs754147251
|
0.00001
|
NM_005677.4(COLQ):c.241A>G (p.Asn81Asp)
|
rs748826424
|
0.00001
|
NM_005677.4(COLQ):c.290C>T (p.Ser97Leu)
|
rs531584926
|
0.00001
|
NM_005677.4(COLQ):c.380G>A (p.Arg127Gln)
|
rs201856842
|
0.00001
|
NM_005677.4(COLQ):c.406C>T (p.Pro136Ser)
|
rs1039189998
|
0.00001
|
NM_005677.4(COLQ):c.460C>G (p.Pro154Ala)
|
rs755848079
|
0.00001
|
NM_005677.4(COLQ):c.465+5G>T
|
rs1384588788
|
0.00001
|
NM_005677.4(COLQ):c.466-9T>G
|
rs930607699
|
0.00001
|
NM_005677.4(COLQ):c.473A>C (p.Lys158Thr)
|
rs1278879838
|
0.00001
|
NM_005677.4(COLQ):c.529-10T>A
|
rs968125549
|
0.00001
|
NM_005677.4(COLQ):c.555+5G>T
|
rs765867687
|
0.00001
|
NM_005677.4(COLQ):c.584G>A (p.Gly195Asp)
|
rs764640385
|
0.00001
|
NM_005677.4(COLQ):c.610G>A (p.Gly204Arg)
|
rs374783562
|
0.00001
|
NM_005677.4(COLQ):c.784C>T (p.Arg262Cys)
|
rs1318954229
|
0.00001
|
NM_005677.4(COLQ):c.820C>T (p.Leu274Phe)
|
rs763262836
|
0.00001
|
NM_005677.4(COLQ):c.833C>A (p.Pro278His)
|
rs1341977323
|
0.00001
|
NM_005677.4(COLQ):c.914G>T (p.Gly305Val)
|
rs763518486
|
0.00001
|
NM_005677.4(COLQ):c.918A>T (p.Glu306Asp)
|
rs765680430
|
0.00001
|
NM_005677.4(COLQ):c.941C>T (p.Pro314Leu)
|
rs370201862
|
0.00001
|
NM_020549.5(CHAT):c.1025A>G (p.Asn342Ser)
|
rs781745178
|
0.00001
|
NM_020549.5(CHAT):c.1033G>A (p.Glu345Lys)
|
rs200776329
|
0.00001
|
NM_020549.5(CHAT):c.104G>A (p.Cys35Tyr)
|
rs1004933171
|
0.00001
|
NM_020549.5(CHAT):c.1144G>C (p.Glu382Gln)
|
rs1463880522
|
0.00001
|
NM_020549.5(CHAT):c.1228G>A (p.Gly410Ser)
|
rs749948399
|
0.00001
|
NM_020549.5(CHAT):c.1267G>A (p.Asp423Asn)
|
rs759707536
|
0.00001
|
NM_020549.5(CHAT):c.127G>A (p.Gly43Arg)
|
rs1423177834
|
0.00001
|
NM_020549.5(CHAT):c.1282-3C>T
|
rs1373606481
|
0.00001
|
NM_020549.5(CHAT):c.1282-6T>C
|
rs771457200
|
0.00001
|
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys)
|
rs121912816
|
0.00001
|
NM_020549.5(CHAT):c.1360A>G (p.Thr454Ala)
|
rs745938985
|
0.00001
|
NM_020549.5(CHAT):c.1409G>A (p.Arg470Gln)
|
rs774834313
|
0.00001
|
NM_020549.5(CHAT):c.1420G>A (p.Val474Ile)
|
rs371719364
|
0.00001
|
NM_020549.5(CHAT):c.1466C>T (p.Pro489Leu)
|
rs764921945
|
0.00001
|
NM_020549.5(CHAT):c.1490C>T (p.Ser497Phe)
|
rs141878259
|
0.00001
|
NM_020549.5(CHAT):c.1643G>A (p.Arg548Gln)
|
rs141881680
|
0.00001
|
NM_020549.5(CHAT):c.1696C>T (p.Arg566Cys)
|
rs368957556
|
0.00001
|
NM_020549.5(CHAT):c.1750G>A (p.Val584Met)
|
rs547073881
|
0.00001
|
NM_020549.5(CHAT):c.1769C>T (p.Ala590Val)
|
rs1313042835
|
0.00001
|
NM_020549.5(CHAT):c.176C>T (p.Pro59Leu)
|
rs766916844
|
0.00001
|
NM_020549.5(CHAT):c.1801A>G (p.Lys601Glu)
|
rs1399092731
|
0.00001
|
NM_020549.5(CHAT):c.1811T>A (p.Ile604Asn)
|
rs1178039732
|
0.00001
|
NM_020549.5(CHAT):c.1823C>A (p.Thr608Asn)
|
rs773228076
|
0.00001
|
NM_020549.5(CHAT):c.1880T>C (p.Leu627Pro)
|
rs775066227
|
0.00001
|
NM_020549.5(CHAT):c.2004C>G (p.Cys668Trp)
|
rs1156904329
|
0.00001
|
NM_020549.5(CHAT):c.205C>A (p.Pro69Thr)
|
rs924554606
|
0.00001
|
NM_020549.5(CHAT):c.2147T>C (p.Ile716Thr)
|
rs1419018923
|
0.00001
|
NM_020549.5(CHAT):c.2211A>T (p.Glu737Asp)
|
rs1840309929
|
0.00001
|
NM_020549.5(CHAT):c.221C>T (p.Thr74Ile)
|
rs1268273103
|
0.00001
|
NM_020549.5(CHAT):c.2234G>A (p.Gly745Glu)
|
rs867343616
|
0.00001
|
NM_020549.5(CHAT):c.243G>A (p.Trp81Ter)
|
rs1384661323
|
0.00001
|
NM_020549.5(CHAT):c.244T>G (p.Cys82Gly)
|
rs1330484583
|
0.00001
|
NM_020549.5(CHAT):c.316C>T (p.Leu106Phe)
|
rs776042082
|
0.00001
|
NM_020549.5(CHAT):c.413C>T (p.Pro138Leu)
|
rs557059182
|
0.00001
|
NM_020549.5(CHAT):c.532A>T (p.Thr178Ser)
|
rs757480104
|
0.00001
|
NM_020549.5(CHAT):c.540G>C (p.Gln180His)
|
rs200143133
|
0.00001
|
NM_020549.5(CHAT):c.619C>T (p.Arg207Cys)
|
rs760936252
|
0.00001
|
NM_020549.5(CHAT):c.652G>A (p.Val218Met)
|
rs751863010
|
0.00001
|
NM_020549.5(CHAT):c.719C>T (p.Ser240Phe)
|
rs1269023544
|
0.00001
|
NM_020549.5(CHAT):c.839A>G (p.Tyr280Cys)
|
rs1186633197
|
0.00001
|
NM_020549.5(CHAT):c.84G>T (p.Arg28Ser)
|
rs745753124
|
0.00001
|
NM_020549.5(CHAT):c.965G>A (p.Arg322His)
|
rs906626657
|
0.00001
|
NM_021815.5(SLC5A7):c.1033A>T (p.Met345Leu)
|
rs769383404
|
0.00001
|
NM_021815.5(SLC5A7):c.103G>A (p.Ala35Thr)
|
rs1225811300
|
0.00001
|
NM_021815.5(SLC5A7):c.110A>G (p.Glu37Gly)
|
rs771965968
|
0.00001
|
NM_021815.5(SLC5A7):c.1118C>T (p.Ser373Leu)
|
rs776949424
|
0.00001
|
NM_021815.5(SLC5A7):c.1122C>A (p.Asp374Glu)
|
rs765428136
|
0.00001
|
NM_021815.5(SLC5A7):c.1181C>G (p.Ala394Gly)
|
rs750242187
|
0.00001
|
NM_021815.5(SLC5A7):c.118G>A (p.Glu40Lys)
|
rs760447400
|
0.00001
|
NM_021815.5(SLC5A7):c.119A>C (p.Glu40Ala)
|
rs770628227
|
0.00001
|
NM_021815.5(SLC5A7):c.1254C>A (p.Phe418Leu)
|
rs770003632
|
0.00001
|
NM_021815.5(SLC5A7):c.12T>G (p.His4Gln)
|
rs1677318394
|
0.00001
|
NM_021815.5(SLC5A7):c.13G>A (p.Val5Met)
|
rs759997671
|
0.00001
|
NM_021815.5(SLC5A7):c.1414A>G (p.Ile472Val)
|
rs1248009607
|
0.00001
|
NM_021815.5(SLC5A7):c.1444C>T (p.Leu482Phe)
|
rs370223910
|
0.00001
|
NM_021815.5(SLC5A7):c.1478G>T (p.Cys493Phe)
|
rs532174786
|
0.00001
|
NM_021815.5(SLC5A7):c.1484C>G (p.Ser495Cys)
|
rs1446927168
|
0.00001
|
NM_021815.5(SLC5A7):c.1517C>T (p.Thr506Ile)
|
rs140863834
|
0.00001
|
NM_021815.5(SLC5A7):c.1613A>G (p.Lys538Arg)
|
rs1288760672
|
0.00001
|
NM_021815.5(SLC5A7):c.1628C>A (p.Ala543Glu)
|
rs751068657
|
0.00001
|
NM_021815.5(SLC5A7):c.1642C>T (p.Arg548Ter)
|
rs199636877
|
0.00001
|
NM_021815.5(SLC5A7):c.1672dup (p.Thr558fs)
|
rs748711877
|
0.00001
|
NM_021815.5(SLC5A7):c.1718C>T (p.Ser573Phe)
|
rs374245840
|
0.00001
|
NM_021815.5(SLC5A7):c.1722G>T (p.Gly574=)
|
rs762662680
|
0.00001
|
NM_021815.5(SLC5A7):c.1727A>T (p.Glu576Val)
|
rs751087167
|
0.00001
|
NM_021815.5(SLC5A7):c.238T>C (p.Tyr80His)
|
rs748862220
|
0.00001
|
NM_021815.5(SLC5A7):c.277C>T (p.Leu93Phe)
|
rs1172822464
|
0.00001
|
NM_021815.5(SLC5A7):c.319C>T (p.Arg107Cys)
|
rs1265189648
|
0.00001
|
NM_021815.5(SLC5A7):c.31A>G (p.Ile11Val)
|
rs911790588
|
0.00001
|
NM_021815.5(SLC5A7):c.34A>G (p.Ile12Val)
|
rs764663527
|
0.00001
|
NM_021815.5(SLC5A7):c.35T>C (p.Ile12Thr)
|
rs1057353436
|
0.00001
|
NM_021815.5(SLC5A7):c.373C>T (p.Arg125Cys)
|
rs757211775
|
0.00001
|
NM_021815.5(SLC5A7):c.382G>A (p.Gly128Arg)
|
rs1222306029
|
0.00001
|
NM_021815.5(SLC5A7):c.385C>T (p.Leu129Phe)
|
rs748901270
|
0.00001
|
NM_021815.5(SLC5A7):c.534G>A (p.Val178=)
|
rs1573601177
|
0.00001
|
NM_021815.5(SLC5A7):c.625C>A (p.His209Asn)
|
rs763744412
|
0.00001
|
NM_021815.5(SLC5A7):c.665C>T (p.Ala222Val)
|
rs1351029450
|
0.00001
|
NM_021815.5(SLC5A7):c.679C>G (p.Pro227Ala)
|
rs1035258430
|
0.00001
|
NM_021815.5(SLC5A7):c.698A>G (p.Asp233Gly)
|
rs1677927626
|
0.00001
|
NM_021815.5(SLC5A7):c.704C>G (p.Ser235Cys)
|
rs755576066
|
0.00001
|
NM_021815.5(SLC5A7):c.716C>T (p.Ser239Phe)
|
rs778161682
|
0.00001
|
NM_021815.5(SLC5A7):c.897C>G (p.Asp299Glu)
|
rs1370287710
|
0.00001
|
NM_033087.4(ALG2):c.1037C>T (p.Ser346Leu)
|
rs544811110
|
0.00001
|
NM_033087.4(ALG2):c.1051G>C (p.Glu351Gln)
|
rs1828726794
|
0.00001
|
NM_033087.4(ALG2):c.1078T>C (p.Phe360Leu)
|
rs1828725925
|
0.00001
|
NM_033087.4(ALG2):c.107C>T (p.Ala36Val)
|
rs567637718
|
0.00001
|
NM_033087.4(ALG2):c.1095C>G (p.Asp365Glu)
|
rs754159662
|
0.00001
|
NM_033087.4(ALG2):c.1115C>T (p.Ala372Val)
|
rs762887574
|
0.00001
|
NM_033087.4(ALG2):c.1177A>G (p.Arg393Gly)
|
rs963221673
|
0.00001
|
NM_033087.4(ALG2):c.1239A>C (p.Lys413Asn)
|
rs1475354932
|
0.00001
|
NM_033087.4(ALG2):c.1246G>C (p.Val416Leu)
|
rs749613639
|
0.00001
|
NM_033087.4(ALG2):c.168G>A (p.Pro56=)
|
rs1225254115
|
0.00001
|
NM_033087.4(ALG2):c.202G>A (p.Val68Met)
|
rs770103603
|
0.00001
|
NM_033087.4(ALG2):c.219C>G (p.Asp73Glu)
|
rs755705607
|
0.00001
|
NM_033087.4(ALG2):c.268G>T (p.Ala90Ser)
|
rs941593352
|
0.00001
|
NM_033087.4(ALG2):c.272A>C (p.Tyr91Ser)
|
rs910168958
|
0.00001
|
NM_033087.4(ALG2):c.296T>C (p.Leu99Pro)
|
rs770722154
|
0.00001
|
NM_033087.4(ALG2):c.29_31del (p.Asp10_Ser11delinsAla)
|
rs762654045
|
0.00001
|
NM_033087.4(ALG2):c.30del (p.Ser11fs)
|
rs763575022
|
0.00001
|
NM_033087.4(ALG2):c.386G>A (p.Arg129Gln)
|
rs1025210566
|
0.00001
|
NM_033087.4(ALG2):c.434C>T (p.Thr145Ile)
|
rs752746581
|
0.00001
|
NM_033087.4(ALG2):c.473C>T (p.Pro158Leu)
|
rs746092484
|
0.00001
|
NM_033087.4(ALG2):c.489G>C (p.Glu163Asp)
|
rs1486842886
|
0.00001
|
NM_033087.4(ALG2):c.572T>C (p.Leu191Pro)
|
rs759789517
|
0.00001
|
NM_033087.4(ALG2):c.617C>T (p.Thr206Ile)
|
rs1166295828
|
0.00001
|
NM_033087.4(ALG2):c.619A>G (p.Ser207Gly)
|
rs745514949
|
0.00001
|
NM_033087.4(ALG2):c.629C>G (p.Ser210Ter)
|
rs139547697
|
0.00001
|
NM_033087.4(ALG2):c.703G>A (p.Glu235Lys)
|
rs189167741
|
0.00001
|
NM_033087.4(ALG2):c.764C>T (p.Thr255Ile)
|
rs766853240
|
0.00001
|
NM_033087.4(ALG2):c.76G>A (p.Val26Met)
|
rs1280699944
|
0.00001
|
NM_033087.4(ALG2):c.85G>C (p.Ala29Pro)
|
rs202053471
|
0.00001
|
NM_033087.4(ALG2):c.947C>T (p.Thr316Met)
|
rs764242401
|
0.00001
|
NM_130811.4(SNAP25):c.256G>A (p.Gly86Arg)
|
rs763054916
|
0.00001
|
NM_130811.4(SNAP25):c.358G>A (p.Val120Ile)
|
rs761830881
|
0.00001
|
NM_130811.4(SNAP25):c.404G>A (p.Arg135His)
|
rs1315869651
|
0.00001
|
NM_130811.4(SNAP25):c.463G>A (p.Gly155Ser)
|
rs2064181965
|
0.00001
|
NM_130811.4(SNAP25):c.7G>A (p.Glu3Lys)
|
rs535525064
|
0.00001
|
NM_130811.4(SNAP25):c.84C>T (p.Ser28=)
|
rs956599079
|
0.00001
|
NM_130811.4(SNAP25):c.92G>A (p.Arg31His)
|
rs1341058084
|
0.00001
|
NM_144988.4(ALG14):c.109C>T (p.Leu37Phe)
|
rs1212603713
|
0.00001
|
NM_144988.4(ALG14):c.191C>T (p.Ser64Leu)
|
rs753195443
|
0.00001
|
NM_144988.4(ALG14):c.248C>A (p.Ser83Tyr)
|
rs767402341
|
0.00001
|
NM_144988.4(ALG14):c.277C>G (p.Pro93Ala)
|
rs775152763
|
0.00001
|
NM_144988.4(ALG14):c.280A>G (p.Ser94Gly)
|
rs1360024892
|
0.00001
|
NM_144988.4(ALG14):c.328G>A (p.Glu110Lys)
|
rs976380616
|
0.00001
|
NM_144988.4(ALG14):c.371A>C (p.His124Pro)
|
rs1553228218
|
0.00001
|
NM_144988.4(ALG14):c.389T>A (p.Phe130Tyr)
|
rs150452802
|
0.00001
|
NM_144988.4(ALG14):c.38C>T (p.Ala13Val)
|
rs983938710
|
0.00001
|
NM_144988.4(ALG14):c.535G>A (p.Glu179Lys)
|
rs957188576
|
0.00001
|
NM_144988.4(ALG14):c.539C>T (p.Thr180Met)
|
rs750820046
|
0.00001
|
NM_173660.5(DOK7):c.1057T>C (p.Ser353Pro)
|
rs931160069
|
0.00001
|
NM_173660.5(DOK7):c.1058C>T (p.Ser353Leu)
|
rs757019137
|
0.00001
|
NM_173660.5(DOK7):c.1096A>G (p.Thr366Ala)
|
rs556239795
|
0.00001
|
NM_173660.5(DOK7):c.1103A>G (p.Glu368Gly)
|
rs375795223
|
0.00001
|
NM_173660.5(DOK7):c.1138G>C (p.Ala380Pro)
|
rs760412846
|
0.00001
|
NM_173660.5(DOK7):c.1214A>G (p.Tyr405Cys)
|
rs746536929
|
0.00001
|
NM_173660.5(DOK7):c.1217A>G (p.Asp406Gly)
|
rs1027188166
|
0.00001
|
NM_173660.5(DOK7):c.1228A>G (p.Ser410Gly)
|
rs547633164
|
0.00001
|
NM_173660.5(DOK7):c.1247G>T (p.Arg416Ile)
|
rs1392647950
|
0.00001
|
NM_173660.5(DOK7):c.1268A>G (p.Gln423Arg)
|
rs756360879
|
0.00001
|
NM_173660.5(DOK7):c.1280G>A (p.Gly427Asp)
|
rs2020433
|
0.00001
|
NM_173660.5(DOK7):c.1355G>A (p.Arg452Gln)
|
rs777057956
|
0.00001
|
NM_173660.5(DOK7):c.1367T>G (p.Met456Arg)
|
rs753317302
|
0.00001
|
NM_173660.5(DOK7):c.1379A>G (p.Gln460Arg)
|
rs898026035
|
0.00001
|
NM_173660.5(DOK7):c.1387G>A (p.Glu463Lys)
|
rs745941308
|
0.00001
|
NM_173660.5(DOK7):c.1411C>T (p.Pro471Ser)
|
rs764872565
|
0.00001
|
NM_173660.5(DOK7):c.1412C>T (p.Pro471Leu)
|
rs535473251
|
0.00001
|
NM_173660.5(DOK7):c.1448G>A (p.Gly483Glu)
|
rs761289689
|
0.00001
|
NM_173660.5(DOK7):c.1478C>T (p.Pro493Leu)
|
rs773679215
|
0.00001
|
NM_173660.5(DOK7):c.1485T>A (p.Cys495Ter)
|
rs1219587536
|
0.00001
|
NM_173660.5(DOK7):c.1513T>C (p.Ter505Arg)
|
rs1189551686
|
0.00001
|
NM_173660.5(DOK7):c.151C>A (p.Leu51Met)
|
rs761336523
|
0.00001
|
NM_173660.5(DOK7):c.328G>A (p.Glu110Lys)
|
rs1024410823
|
0.00001
|
NM_173660.5(DOK7):c.383C>T (p.Pro128Leu)
|
rs376659660
|
0.00001
|
NM_173660.5(DOK7):c.386C>T (p.Ala129Val)
|
rs1158650422
|
0.00001
|
NM_173660.5(DOK7):c.412C>A (p.Leu138Ile)
|
rs747942116
|
0.00001
|
NM_173660.5(DOK7):c.415G>A (p.Val139Ile)
|
rs571769859
|
0.00001
|
NM_173660.5(DOK7):c.458A>C (p.Lys153Thr)
|
rs1362167631
|
0.00001
|
NM_173660.5(DOK7):c.460C>G (p.Leu154Val)
|
rs775014794
|
0.00001
|
NM_173660.5(DOK7):c.472C>T (p.Arg158Trp)
|
rs753436594
|
0.00001
|
NM_173660.5(DOK7):c.476G>A (p.Arg159His)
|
rs1485585052
|
0.00001
|
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg)
|
rs758131044
|
0.00001
|
NM_173660.5(DOK7):c.490C>T (p.Pro164Ser)
|
rs142756576
|
0.00001
|
NM_173660.5(DOK7):c.496G>A (p.Gly166Arg)
|
rs781227659
|
0.00001
|
NM_173660.5(DOK7):c.49A>C (p.Lys17Gln)
|
rs1726073976
|
0.00001
|
NM_173660.5(DOK7):c.562G>A (p.Glu188Lys)
|
rs1388813398
|
0.00001
|
NM_173660.5(DOK7):c.578G>A (p.Ser193Asn)
|
rs760505816
|
0.00001
|
NM_173660.5(DOK7):c.598G>A (p.Val200Ile)
|
rs1388192187
|
0.00001
|
NM_173660.5(DOK7):c.602G>A (p.Arg201Gln)
|
rs1339181692
|
0.00001
|
NM_173660.5(DOK7):c.635T>C (p.Leu212Pro)
|
rs553985062
|
0.00001
|
NM_173660.5(DOK7):c.649C>T (p.Pro217Ser)
|
rs1301546614
|
0.00001
|
NM_173660.5(DOK7):c.652+5G>A
|
rs772918388
|
0.00001
|
NM_173660.5(DOK7):c.655C>G (p.Pro219Ala)
|
rs956613882
|
0.00001
|
NM_173660.5(DOK7):c.676A>G (p.Thr226Ala)
|
rs1447016347
|
0.00001
|
NM_173660.5(DOK7):c.691G>A (p.Val231Met)
|
rs369297851
|
0.00001
|
NM_173660.5(DOK7):c.716T>G (p.Leu239Arg)
|
rs1023898774
|
0.00001
|
NM_173660.5(DOK7):c.766A>G (p.Ser256Gly)
|
rs750004938
|
0.00001
|
NM_173660.5(DOK7):c.878G>T (p.Ser293Ile)
|
rs767303929
|
0.00001
|
NM_173660.5(DOK7):c.946A>G (p.Arg316Gly)
|
rs898373845
|
0.00001
|
NM_198576.4(AGRN):c.1009A>G (p.Thr337Ala)
|
rs761043248
|
0.00001
|
NM_198576.4(AGRN):c.1036C>T (p.Pro346Ser)
|
rs879928015
|
0.00001
|
NM_198576.4(AGRN):c.1061C>T (p.Ala354Val)
|
rs759676959
|
0.00001
|
NM_198576.4(AGRN):c.1101C>G (p.Asp367Glu)
|
rs754488616
|
0.00001
|
NM_198576.4(AGRN):c.1126G>A (p.Ala376Thr)
|
rs1455286726
|
0.00001
|
NM_198576.4(AGRN):c.1159G>A (p.Gly387Ser)
|
rs1644943642
|
0.00001
|
NM_198576.4(AGRN):c.1178A>G (p.Asp393Gly)
|
rs1251468066
|
0.00001
|
NM_198576.4(AGRN):c.1222C>T (p.Arg408Cys)
|
rs775310667
|
0.00001
|
NM_198576.4(AGRN):c.1249G>A (p.Asp417Asn)
|
rs148420980
|
0.00001
|
NM_198576.4(AGRN):c.1258A>G (p.Thr420Ala)
|
rs777791014
|
0.00001
|
NM_198576.4(AGRN):c.1405C>T (p.Leu469Phe)
|
rs752078908
|
0.00001
|
NM_198576.4(AGRN):c.1427G>C (p.Gly476Ala)
|
rs986280294
|
0.00001
|
NM_198576.4(AGRN):c.1580A>C (p.Gln527Pro)
|
rs1489534034
|
0.00001
|
NM_198576.4(AGRN):c.1603+9C>T
|
rs529318022
|
0.00001
|
NM_198576.4(AGRN):c.1606C>T (p.Arg536Cys)
|
rs745663789
|
0.00001
|
NM_198576.4(AGRN):c.167A>G (p.Asn56Ser)
|
rs1316890507
|
0.00001
|
NM_198576.4(AGRN):c.1685T>C (p.Leu562Ser)
|
rs771414620
|
0.00001
|
NM_198576.4(AGRN):c.1708G>A (p.Asp570Asn)
|
rs374232667
|
0.00001
|
NM_198576.4(AGRN):c.1721A>T (p.Tyr574Phe)
|
rs749074796
|
0.00001
|
NM_198576.4(AGRN):c.1724C>G (p.Pro575Arg)
|
rs1645009481
|
0.00001
|
NM_198576.4(AGRN):c.1796G>A (p.Cys599Tyr)
|
rs1277483777
|
0.00001
|
NM_198576.4(AGRN):c.1798G>A (p.Glu600Lys)
|
rs1310138293
|
0.00001
|
NM_198576.4(AGRN):c.1814C>T (p.Ala605Val)
|
rs1038802664
|
0.00001
|
NM_198576.4(AGRN):c.1841C>T (p.Ser614Phe)
|
rs202090219
|
0.00001
|
NM_198576.4(AGRN):c.1843G>A (p.Ala615Thr)
|
rs762357955
|
0.00001
|
NM_198576.4(AGRN):c.1855G>A (p.Val619Met)
|
rs761043604
|
0.00001
|
NM_198576.4(AGRN):c.1891G>A (p.Val631Met)
|
rs748716996
|
0.00001
|
NM_198576.4(AGRN):c.1906G>A (p.Gly636Ser)
|
rs1042435801
|
0.00001
|
NM_198576.4(AGRN):c.1918G>A (p.Gly640Ser)
|
rs759762952
|
0.00001
|
NM_198576.4(AGRN):c.1978C>T (p.Arg660Trp)
|
rs534519250
|
0.00001
|
NM_198576.4(AGRN):c.1999+6C>G
|
rs747508825
|
0.00001
|
NM_198576.4(AGRN):c.2006G>A (p.Cys669Tyr)
|
rs1196333702
|
0.00001
|
NM_198576.4(AGRN):c.201+4C>A
|
rs1313469026
|
0.00001
|
NM_198576.4(AGRN):c.2063G>A (p.Arg688Gln)
|
rs780817353
|
0.00001
|
NM_198576.4(AGRN):c.2134G>A (p.Val712Ile)
|
rs745652394
|
0.00001
|
NM_198576.4(AGRN):c.2245G>A (p.Ala749Thr)
|
rs1278297283
|
0.00001
|
NM_198576.4(AGRN):c.2276C>T (p.Pro759Leu)
|
rs1214623286
|
0.00001
|
NM_198576.4(AGRN):c.2291T>C (p.Leu764Ser)
|
rs766070520
|
0.00001
|
NM_198576.4(AGRN):c.2300C>T (p.Ala767Val)
|
rs1384713725
|
0.00001
|
NM_198576.4(AGRN):c.2329A>C (p.Asn777His)
|
rs777783441
|
0.00001
|
NM_198576.4(AGRN):c.2344C>T (p.Arg782Trp)
|
rs1224886218
|
0.00001
|
NM_198576.4(AGRN):c.2356C>G (p.Leu786Val)
|
rs761794267
|
0.00001
|
NM_198576.4(AGRN):c.2390C>G (p.Pro797Arg)
|
rs770988590
|
0.00001
|
NM_198576.4(AGRN):c.2426C>T (p.Thr809Ile)
|
rs1366119256
|
0.00001
|
NM_198576.4(AGRN):c.2456G>A (p.Gly819Glu)
|
rs202021682
|
0.00001
|
NM_198576.4(AGRN):c.2495A>G (p.Asn832Ser)
|
rs761152280
|
0.00001
|
NM_198576.4(AGRN):c.2522G>A (p.Arg841Gln)
|
rs756103278
|
0.00001
|
NM_198576.4(AGRN):c.2575T>C (p.Cys859Arg)
|
rs768805007
|
0.00001
|
NM_198576.4(AGRN):c.2617G>T (p.Ala873Ser)
|
rs1645074389
|
0.00001
|
NM_198576.4(AGRN):c.2659G>T (p.Gly887Cys)
|
rs373631709
|
0.00001
|
NM_198576.4(AGRN):c.2662C>T (p.Pro888Ser)
|
rs560184470
|
0.00001
|
NM_198576.4(AGRN):c.2680+6T>C
|
rs748272401
|
0.00001
|
NM_198576.4(AGRN):c.2705C>T (p.Ala902Val)
|
rs753492233
|
0.00001
|
NM_198576.4(AGRN):c.2714G>A (p.Arg905His)
|
rs751639799
|
0.00001
|
NM_198576.4(AGRN):c.2731C>T (p.Arg911Trp)
|
rs200642681
|
0.00001
|
NM_198576.4(AGRN):c.2833G>C (p.Gly945Arg)
|
rs911274904
|
0.00001
|
NM_198576.4(AGRN):c.2860G>A (p.Ala954Thr)
|
rs775642947
|
0.00001
|
NM_198576.4(AGRN):c.2867G>A (p.Arg956His)
|
rs757057339
|
0.00001
|
NM_198576.4(AGRN):c.2903C>T (p.Pro968Leu)
|
rs772386655
|
0.00001
|
NM_198576.4(AGRN):c.2913G>A (p.Glu971=)
|
rs1372362266
|
0.00001
|
NM_198576.4(AGRN):c.2966C>T (p.Pro989Leu)
|
rs1465399788
|
0.00001
|
NM_198576.4(AGRN):c.3004G>A (p.Gly1002Ser)
|
rs757677789
|
0.00001
|
NM_198576.4(AGRN):c.3050C>T (p.Thr1017Ile)
|
rs1224006799
|
0.00001
|
NM_198576.4(AGRN):c.3086G>A (p.Ser1029Asn)
|
rs761318596
|
0.00001
|
NM_198576.4(AGRN):c.3088G>A (p.Val1030Ile)
|
rs199933532
|
0.00001
|
NM_198576.4(AGRN):c.3103G>A (p.Val1035Met)
|
rs756015484
|
0.00001
|
NM_198576.4(AGRN):c.3152G>A (p.Ser1051Asn)
|
rs1014335796
|
0.00001
|
NM_198576.4(AGRN):c.3153C>G (p.Ser1051Arg)
|
rs1367992401
|
0.00001
|
NM_198576.4(AGRN):c.3185G>A (p.Ser1062Asn)
|
rs751833707
|
0.00001
|
NM_198576.4(AGRN):c.3236G>T (p.Gly1079Val)
|
rs1399398380
|
0.00001
|
NM_198576.4(AGRN):c.3277G>A (p.Val1093Met)
|
rs572261141
|
0.00001
|
NM_198576.4(AGRN):c.3296C>T (p.Pro1099Leu)
|
rs564170089
|
0.00001
|
NM_198576.4(AGRN):c.3325G>A (p.Ala1109Thr)
|
rs1221116957
|
0.00001
|
NM_198576.4(AGRN):c.3365A>G (p.Asp1122Gly)
|
rs1048772741
|
0.00001
|
NM_198576.4(AGRN):c.3402C>A (p.Phe1134Leu)
|
rs1250886116
|
0.00001
|
NM_198576.4(AGRN):c.3416A>C (p.Glu1139Ala)
|
rs758652107
|
0.00001
|
NM_198576.4(AGRN):c.3454C>T (p.Pro1152Ser)
|
rs760592311
|
0.00001
|
NM_198576.4(AGRN):c.3517C>T (p.Leu1173=)
|
rs756576195
|
0.00001
|
NM_198576.4(AGRN):c.3523G>A (p.Asp1175Asn)
|
rs571230424
|
0.00001
|
NM_198576.4(AGRN):c.3526C>G (p.Leu1176Val)
|
rs1361747412
|
0.00001
|
NM_198576.4(AGRN):c.356C>T (p.Pro119Leu)
|
rs760057776
|
0.00001
|
NM_198576.4(AGRN):c.358G>C (p.Ala120Pro)
|
rs765443053
|
0.00001
|
NM_198576.4(AGRN):c.3601C>T (p.Arg1201Cys)
|
rs763762094
|
0.00001
|
NM_198576.4(AGRN):c.3607A>G (p.Ile1203Val)
|
rs778562449
|
0.00001
|
NM_198576.4(AGRN):c.3635C>T (p.Thr1212Ile)
|
rs1470278093
|
0.00001
|
NM_198576.4(AGRN):c.364C>G (p.Pro122Ala)
|
rs1445429136
|
0.00001
|
NM_198576.4(AGRN):c.3661C>T (p.Arg1221Trp)
|
rs374345060
|
0.00001
|
NM_198576.4(AGRN):c.3721C>A (p.Leu1241Met)
|
rs202194761
|
0.00001
|
NM_198576.4(AGRN):c.3737G>A (p.Arg1246Gln)
|
rs1047444673
|
0.00001
|
NM_198576.4(AGRN):c.3809C>T (p.Thr1270Met)
|
rs779140262
|
0.00001
|
NM_198576.4(AGRN):c.3856C>A (p.Pro1286Thr)
|
rs760218476
|
0.00001
|
NM_198576.4(AGRN):c.3859C>T (p.Arg1287Trp)
|
rs776411371
|
0.00001
|
NM_198576.4(AGRN):c.3860G>A (p.Arg1287Gln)
|
rs1236736432
|
0.00001
|
NM_198576.4(AGRN):c.3892G>A (p.Val1298Ile)
|
rs963483105
|
0.00001
|
NM_198576.4(AGRN):c.391G>A (p.Glu131Lys)
|
rs746643534
|
0.00001
|
NM_198576.4(AGRN):c.3961C>T (p.Arg1321Cys)
|
rs1483197613
|
0.00001
|
NM_198576.4(AGRN):c.4066A>C (p.Ser1356Arg)
|
rs753847571
|
0.00001
|
NM_198576.4(AGRN):c.410G>T (p.Ser137Ile)
|
rs376542441
|
0.00001
|
NM_198576.4(AGRN):c.4114G>A (p.Ala1372Thr)
|
rs376441344
|
0.00001
|
NM_198576.4(AGRN):c.4165C>T (p.Arg1389Cys)
|
rs775753706
|
0.00001
|
NM_198576.4(AGRN):c.419G>A (p.Arg140Gln)
|
rs760191021
|
0.00001
|
NM_198576.4(AGRN):c.4201C>T (p.Arg1401Trp)
|
rs758090504
|
0.00001
|
NM_198576.4(AGRN):c.4205C>T (p.Ala1402Val)
|
rs747440725
|
0.00001
|
NM_198576.4(AGRN):c.4271C>T (p.Ala1424Val)
|
rs777530290
|
0.00001
|
NM_198576.4(AGRN):c.4337C>T (p.Ala1446Val)
|
rs1027231298
|
0.00001
|
NM_198576.4(AGRN):c.435C>A (p.Asn145Lys)
|
rs752866873
|
0.00001
|
NM_198576.4(AGRN):c.4394G>A (p.Arg1465Gln)
|
rs371697818
|
0.00001
|
NM_198576.4(AGRN):c.4435G>A (p.Glu1479Lys)
|
rs201142052
|
0.00001
|
NM_198576.4(AGRN):c.4503C>G (p.Asp1501Glu)
|
rs770460630
|
0.00001
|
NM_198576.4(AGRN):c.4612G>T (p.Ala1538Ser)
|
rs775550619
|
0.00001
|
NM_198576.4(AGRN):c.463+4C>T
|
rs1644427555
|
0.00001
|
NM_198576.4(AGRN):c.463+5G>A
|
rs779919649
|
0.00001
|
NM_198576.4(AGRN):c.4645G>A (p.Gly1549Arg)
|
rs758000357
|
0.00001
|
NM_198576.4(AGRN):c.4669C>G (p.Pro1557Ala)
|
rs1477877933
|
0.00001
|
NM_198576.4(AGRN):c.4670C>T (p.Pro1557Leu)
|
rs1189874293
|
0.00001
|
NM_198576.4(AGRN):c.4680C>T (p.Gly1560=)
|
rs763091420
|
0.00001
|
NM_198576.4(AGRN):c.472G>A (p.Gly158Arg)
|
rs764956867
|
0.00001
|
NM_198576.4(AGRN):c.4730C>T (p.Pro1577Leu)
|
rs1271577167
|
0.00001
|
NM_198576.4(AGRN):c.4744G>A (p.Gly1582Arg)
|
rs1367262797
|
0.00001
|
NM_198576.4(AGRN):c.4799C>T (p.Ala1600Val)
|
rs370833536
|
0.00001
|
NM_198576.4(AGRN):c.4800G>A (p.Ala1600=)
|
rs369164916
|
0.00001
|
NM_198576.4(AGRN):c.4805C>T (p.Pro1602Leu)
|
rs935763466
|
0.00001
|
NM_198576.4(AGRN):c.4822G>A (p.Glu1608Lys)
|
rs770435802
|
0.00001
|
NM_198576.4(AGRN):c.4838G>A (p.Cys1613Tyr)
|
rs1347129558
|
0.00001
|
NM_198576.4(AGRN):c.4847C>T (p.Pro1616Leu)
|
rs764238368
|
0.00001
|
NM_198576.4(AGRN):c.4904C>A (p.Pro1635His)
|
rs145341123
|
0.00001
|
NM_198576.4(AGRN):c.4916A>G (p.Asp1639Gly)
|
rs532777950
|
0.00001
|
NM_198576.4(AGRN):c.4939G>C (p.Glu1647Gln)
|
rs1404128392
|
0.00001
|
NM_198576.4(AGRN):c.4988C>T (p.Ala1663Val)
|
rs753922672
|
0.00001
|
NM_198576.4(AGRN):c.49C>T (p.Leu17Phe)
|
rs1057523287
|
0.00001
|
NM_198576.4(AGRN):c.500C>T (p.Thr167Met)
|
rs745711705
|
0.00001
|
NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser)
|
rs764160563
|
0.00001
|
NM_198576.4(AGRN):c.5087G>A (p.Arg1696Gln)
|
rs202223206
|
0.00001
|
NM_198576.4(AGRN):c.5147G>A (p.Arg1716Lys)
|
rs1485164787
|
0.00001
|
NM_198576.4(AGRN):c.5173A>G (p.Thr1725Ala)
|
rs1222963458
|
0.00001
|
NM_198576.4(AGRN):c.5197G>A (p.Gly1733Ser)
|
rs746321629
|
0.00001
|
NM_198576.4(AGRN):c.5215C>T (p.Arg1739Cys)
|
rs1361084400
|
0.00001
|
NM_198576.4(AGRN):c.5252C>T (p.Pro1751Leu)
|
rs756986183
|
0.00001
|
NM_198576.4(AGRN):c.5293G>A (p.Val1765Ile)
|
rs369850742
|
0.00001
|
NM_198576.4(AGRN):c.5299G>T (p.Gly1767Cys)
|
rs1426112549
|
0.00001
|
NM_198576.4(AGRN):c.5300G>A (p.Gly1767Asp)
|
rs143031281
|
0.00001
|
NM_198576.4(AGRN):c.5368C>G (p.Leu1790Val)
|
rs1339779014
|
0.00001
|
NM_198576.4(AGRN):c.5380G>A (p.Gly1794Arg)
|
rs374148623
|
0.00001
|
NM_198576.4(AGRN):c.5467G>A (p.Gly1823Ser)
|
rs755865580
|
0.00001
|
NM_198576.4(AGRN):c.5505G>C (p.Arg1835Ser)
|
rs760016457
|
0.00001
|
NM_198576.4(AGRN):c.5513C>A (p.Ala1838Asp)
|
rs376270407
|
0.00001
|
NM_198576.4(AGRN):c.5557G>A (p.Glu1853Lys)
|
rs754858398
|
0.00001
|
NM_198576.4(AGRN):c.5582C>T (p.Ala1861Val)
|
rs138113721
|
0.00001
|
NM_198576.4(AGRN):c.5611G>A (p.Gly1871Arg)
|
rs763818876
|
0.00001
|
NM_198576.4(AGRN):c.5629T>G (p.Tyr1877Asp)
|
rs755383095
|
0.00001
|
NM_198576.4(AGRN):c.5652C>T (p.Ser1884=)
|
rs777830736
|
0.00001
|
NM_198576.4(AGRN):c.5705C>T (p.Thr1902Met)
|
rs775047750
|
0.00001
|
NM_198576.4(AGRN):c.575G>T (p.Arg192Leu)
|
rs1319735888
|
0.00001
|
NM_198576.4(AGRN):c.5776G>A (p.Gly1926Arg)
|
rs761747211
|
0.00001
|
NM_198576.4(AGRN):c.5815G>A (p.Val1939Met)
|
rs753560167
|
0.00001
|
NM_198576.4(AGRN):c.5825G>A (p.Arg1942His)
|
rs758968975
|
0.00001
|
NM_198576.4(AGRN):c.5833G>A (p.Val1945Met)
|
rs145079121
|
0.00001
|
NM_198576.4(AGRN):c.5851C>T (p.Arg1951Cys)
|
rs746117937
|
0.00001
|
NM_198576.4(AGRN):c.5944G>A (p.Ala1982Thr)
|
rs768666839
|
0.00001
|
NM_198576.4(AGRN):c.5995C>A (p.Leu1999Met)
|
rs868724036
|
0.00001
|
NM_198576.4(AGRN):c.6001G>A (p.Val2001Met)
|
rs775422356
|
0.00001
|
NM_198576.4(AGRN):c.6005G>T (p.Gly2002Val)
|
rs768333859
|
0.00001
|
NM_198576.4(AGRN):c.6008C>G (p.Pro2003Arg)
|
rs773915738
|
0.00001
|
NM_198576.4(AGRN):c.6028G>A (p.Gly2010Ser)
|
rs1166737018
|
0.00001
|
NM_198576.4(AGRN):c.602C>T (p.Pro201Leu)
|
rs547205625
|
0.00001
|
NM_198576.4(AGRN):c.6053G>A (p.Arg2018Gln)
|
rs766936338
|
0.00001
|
NM_198576.4(AGRN):c.6122C>T (p.Pro2041Leu)
|
rs1393300336
|
0.00001
|
NM_198576.4(AGRN):c.664G>A (p.Glu222Lys)
|
rs1242198480
|
0.00001
|
NM_198576.4(AGRN):c.686G>A (p.Ser229Asn)
|
rs1284515586
|
0.00001
|
NM_198576.4(AGRN):c.68T>G (p.Val23Gly)
|
rs1262975758
|
0.00001
|
NM_198576.4(AGRN):c.76G>A (p.Gly26Arg)
|
rs1185534330
|
0.00001
|
NM_198576.4(AGRN):c.794G>A (p.Gly265Glu)
|
rs1453117775
|
0.00001
|
NM_198576.4(AGRN):c.829C>T (p.Arg277Cys)
|
rs1256837701
|
0.00001
|
NM_198576.4(AGRN):c.838C>T (p.Pro280Ser)
|
rs772190345
|
0.00001
|
NM_198576.4(AGRN):c.904G>A (p.Ala302Thr)
|
rs1318084676
|
0.00001
|
NC_000001.10:g.(?_95448632)_(95538454_?)dup
|
|
|
NC_000001.10:g.(?_95538299)_(95538454_?)del
|
|
|
NC_000001.10:g.(?_955553)_(957862_?)dup
|
|
|
NC_000001.10:g.(?_980719)_(1168648_?)dup
|
|
|
NC_000001.10:g.(?_984596)_(990361_?)dup
|
|
|
NC_000001.11:g.(?_1020163)_(1054991_?)dup
|
|
|
NC_000001.11:g.(?_1047317)_(1054991_?)dup
|
|
|
NC_000002.11:g.(?_108604592)_(108627337_?)dup
|
|
|
NC_000002.11:g.(?_108604612)_(108604809_?)del
|
|
|
NC_000002.11:g.(?_108604612)_(108609603_?)del
|
|
|
NC_000002.11:g.(?_108604612)_(108627317_?)del
|
|
|
NC_000002.11:g.(?_108604612)_(108627317_?)dup
|
|
|
NC_000002.11:g.(?_44547318)_(44586854_?)dup
|
|
|
NC_000002.11:g.(?_44548485)_(44586864_?)dup
|
|
|
NC_000002.11:g.(?_44573387)_(44586854_?)dup
|
|
|
NC_000002.11:g.(?_69553299)_(69597260_?)dup
|
|
|
NC_000002.11:g.(?_69553299)_(69614213_?)dup
|
|
|
NC_000002.11:g.(?_69597123)_(69597250_?)del
|
|
|
NC_000002.12:g.(?_107988146)_(108010871_?)dup
|
|
|
NC_000002.12:g.(?_107988146)_(108963283_?)del
|
|
|
NC_000002.12:g.(?_107988146)_(108963283_?)dup
|
|
|
NC_000003.11:g.(?_15493151)_(15563132_?)dup
|
|
|
NC_000003.11:g.(?_15497396)_(15499842_?)del
|
|
|
NC_000003.12:g.(?_15451634)_(15521635_?)dup
|
|
|
NC_000004.11:g.(?_3465093)_(3495238_?)dup
|
|
|
NC_000004.11:g.(?_3465103)_(3465298_?)dup
|
|
|
NC_000004.11:g.(?_3465103)_(3495228_?)dup
|
|
|
NC_000004.11:g.(?_3494787)_3495019dup
|
|
|
NC_000009.11:g.(?_100190748)_(103062956_?)dup
|
|
|
NC_000009.11:g.(?_113006437)_(113563268_?)dup
|
|
|
NC_000009.11:g.(?_113431185)_(113459766_?)dup
|
|
|
NC_000010.10:g.(?_50818787)_(50824668_?)dup
|
|
|
NC_000010.10:g.(?_50818787)_(50873092_?)dup
|
|
|
NC_000010.10:g.(?_50821083)_(50874150_?)dup
|
|
|
NC_000010.10:g.(?_50822226)_(50873102_?)dup
|
|
|
NC_000011.9:g.(?_118967698)_(119170501_?)dup
|
|
|
NC_000011.9:g.(?_46880534)_(46893204_?)dup
|
|
|
NC_000011.9:g.(?_46880534)_(46918565_?)dup
|
|
|
NC_000011.9:g.(?_47431646)_(47470726_?)dup
|
|
|
NC_000017.10:g.(?_4802011)_(4850135_?)dup
|
|
|
NC_000017.10:g.(?_4804800)_(4806078_?)dup
|
|
|
NC_000017.10:g.(?_6328780)_(7606804_?)dup
|
|
|
NC_000017.10:g.(?_7348427)_(7352127_?)dup
|
|
|
NC_000017.10:g.(?_7348447)_(7357859_?)dup
|
|
|
NC_000017.10:g.(?_7357606)_(7360052_?)del
|
|
|
NC_000017.10:g.(?_7359882)_(7360042_?)del
|
|
|
NC_000017.11:g.(?_4898726)_(5024161_?)dup
|
|
|
NC_000020.10:g.(?_10256140)_(10286845_?)del
|
|
|
NM_000080.4(CHRNE):c.1000A>G (p.Thr334Ala)
|
|
|
NM_000080.4(CHRNE):c.1003A>C (p.Thr335Pro)
|
|
|
NM_000080.4(CHRNE):c.1004C>T (p.Thr335Ile)
|
|
|
NM_000080.4(CHRNE):c.1006C>T (p.His336Tyr)
|
|
|
NM_000080.4(CHRNE):c.1008C>G (p.His336Gln)
|
rs768479748
|
|
NM_000080.4(CHRNE):c.1009G>A (p.Ala337Thr)
|
|
|
NM_000080.4(CHRNE):c.1012A>G (p.Met338Val)
|
rs200035803
|
|
NM_000080.4(CHRNE):c.1016C>T (p.Ser339Phe)
|
|
|
NM_000080.4(CHRNE):c.1018C>T (p.Pro340Ser)
|
rs1019584942
|
|
NM_000080.4(CHRNE):c.1019C>G (p.Pro340Arg)
|
rs139922367
|
|
NM_000080.4(CHRNE):c.1021C>T (p.Arg341Trp)
|
rs1597615227
|
|
NM_000080.4(CHRNE):c.1022G>A (p.Arg341Gln)
|
|
|
NM_000080.4(CHRNE):c.1025T>C (p.Leu342Pro)
|
rs1230039635
|
|
NM_000080.4(CHRNE):c.1027C>A (p.Arg343Ser)
|
|
|
NM_000080.4(CHRNE):c.1028G>T (p.Arg343Leu)
|
|
|
NM_000080.4(CHRNE):c.1031A>G (p.His344Arg)
|
|
|
NM_000080.4(CHRNE):c.1032+3A>C
|
|
|
NM_000080.4(CHRNE):c.1032C>A (p.His344Gln)
|
rs144047383
|
|
NM_000080.4(CHRNE):c.1032C>G (p.His344Gln)
|
rs144047383
|
|
NM_000080.4(CHRNE):c.1032C>T (p.His344=)
|
|
|
NM_000080.4(CHRNE):c.1033-6_1033-1dup
|
rs886053123
|
|
NM_000080.4(CHRNE):c.1036C>G (p.Leu346Val)
|
rs1471932042
|
|
NM_000080.4(CHRNE):c.1049T>A (p.Leu350Gln)
|
rs1969864400
|
|
NM_000080.4(CHRNE):c.1055G>T (p.Arg352Leu)
|
rs764744220
|
|
NM_000080.4(CHRNE):c.1061T>C (p.Leu354Pro)
|
|
|
NM_000080.4(CHRNE):c.1063G>C (p.Gly355Arg)
|
|
|
NM_000080.4(CHRNE):c.1064G>C (p.Gly355Ala)
|
|
|
NM_000080.4(CHRNE):c.1067C>T (p.Ser356Phe)
|
|
|
NM_000080.4(CHRNE):c.1070C>T (p.Pro357Leu)
|
rs1026988403
|
|
NM_000080.4(CHRNE):c.1071GCC[2] (p.Pro360del)
|
rs752226476
|
|
NM_000080.4(CHRNE):c.1071GCC[4] (p.Pro360dup)
|
rs752226476
|
|
NM_000080.4(CHRNE):c.1073C>T (p.Pro358Leu)
|
|
|
NM_000080.4(CHRNE):c.1076C>A (p.Pro359Gln)
|
rs192195094
|
|
NM_000080.4(CHRNE):c.1085C>A (p.Ala362Asp)
|
|
|
NM_000080.4(CHRNE):c.1085C>G (p.Ala362Gly)
|
rs1053507936
|
|
NM_000080.4(CHRNE):c.1085C>T (p.Ala362Val)
|
rs1053507936
|
|
NM_000080.4(CHRNE):c.1090C>T (p.Arg364Trp)
|
|
|
NM_000080.4(CHRNE):c.1096G>C (p.Ala366Pro)
|
|
|
NM_000080.4(CHRNE):c.1102C>A (p.Pro368Thr)
|
rs763837110
|
|
NM_000080.4(CHRNE):c.1117T>G (p.Ser373Ala)
|
rs1555546304
|
|
NM_000080.4(CHRNE):c.1135C>T (p.Leu379Phe)
|
|
|
NM_000080.4(CHRNE):c.1138C>T (p.Arg380Cys)
|
|
|
NM_000080.4(CHRNE):c.1139G>C (p.Arg380Pro)
|
|
|
NM_000080.4(CHRNE):c.1142C>T (p.Ala381Val)
|
rs756786529
|
|
NM_000080.4(CHRNE):c.1144GAG[1] (p.Glu383del)
|
rs961784740
|
|
NM_000080.4(CHRNE):c.1151T>C (p.Leu384Pro)
|
rs753397420
|
|
NM_000080.4(CHRNE):c.1155A>G (p.Ile385Met)
|
|
|
NM_000080.4(CHRNE):c.1172G>A (p.Ser391Asn)
|
|
|
NM_000080.4(CHRNE):c.1172_1173delinsTT (p.Ser391Ile)
|
rs1555546288
|
|
NM_000080.4(CHRNE):c.1176G>C (p.Glu392Asp)
|
|
|
NM_000080.4(CHRNE):c.1180G>T (p.Val394Leu)
|
rs772486503
|
|
NM_000080.4(CHRNE):c.1192C>A (p.Gln398Lys)
|
|
|
NM_000080.4(CHRNE):c.1201C>T (p.Arg401Trp)
|
|
|
NM_000080.4(CHRNE):c.1208G>A (p.Gly403Glu)
|
rs1310787375
|
|
NM_000080.4(CHRNE):c.1214G>C (p.Trp405Ser)
|
|
|
NM_000080.4(CHRNE):c.1217C>A (p.Thr406Lys)
|
rs532120320
|
|
NM_000080.4(CHRNE):c.121C>T (p.Pro41Ser)
|
|
|
NM_000080.4(CHRNE):c.1220-3C>T
|
|
|
NM_000080.4(CHRNE):c.1223C>G (p.Ala408Gly)
|
rs778624148
|
|
NM_000080.4(CHRNE):c.1252_1254dup (p.Pro418_Glu419insPro)
|
|
|
NM_000080.4(CHRNE):c.1261C>G (p.Arg421Gly)
|
|
|
NM_000080.4(CHRNE):c.1282A>T (p.Asn428Tyr)
|
|
|
NM_000080.4(CHRNE):c.1291G>T (p.Ala431Ser)
|
rs121909517
|
|
NM_000080.4(CHRNE):c.1310A>T (p.Gln437Leu)
|
|
|
NM_000080.4(CHRNE):c.1314G>C (p.Glu438Asp)
|
|
|
NM_000080.4(CHRNE):c.1318A>G (p.Thr440Ala)
|
|
|
NM_000080.4(CHRNE):c.1326+6A>C
|
rs886053122
|
|
NM_000080.4(CHRNE):c.1327-21_1327-18del
|
|
|
NM_000080.4(CHRNE):c.1338C>G (p.Asp446Glu)
|
|
|
NM_000080.4(CHRNE):c.1343T>C (p.Val448Ala)
|
rs1969824493
|
|
NM_000080.4(CHRNE):c.1345C>A (p.Arg449Ser)
|
rs149083639
|
|
NM_000080.4(CHRNE):c.1350G>A (p.Met450Ile)
|
|
|
NM_000080.4(CHRNE):c.1358C>T (p.Ala453Val)
|
|
|
NM_000080.4(CHRNE):c.1363G>A (p.Asp455Asn)
|
|
|
NM_000080.4(CHRNE):c.1376T>G (p.Phe459Cys)
|
|
|
NM_000080.4(CHRNE):c.137A>G (p.Glu46Gly)
|
|
|
NM_000080.4(CHRNE):c.1382C>T (p.Ala461Val)
|
|
|
NM_000080.4(CHRNE):c.1406G>T (p.Gly469Val)
|
rs1346830083
|
|
NM_000080.4(CHRNE):c.1439A>G (p.Asn480Ser)
|
rs760738362
|
|
NM_000080.4(CHRNE):c.1441C>G (p.Arg481Gly)
|
|
|
NM_000080.4(CHRNE):c.1441C>T (p.Arg481Ter)
|
rs775550642
|
|
NM_000080.4(CHRNE):c.1450G>C (p.Asp484His)
|
|
|
NM_000080.4(CHRNE):c.1463C>T (p.Ala488Val)
|
|
|
NM_000080.4(CHRNE):c.1480_*48delinsC (p.Ter494LeuextTer?)
|
rs1555546038
|
|
NM_000080.4(CHRNE):c.1481_*48del (p.Ter494LeuextTer?)
|
|
|
NM_000080.4(CHRNE):c.154_155insTCAGGTGACATACTGAGGATGACATACTGTCATCCG (p.Ser52delinsIleArgTer)
|
rs2151098875
|
|
NM_000080.4(CHRNE):c.155G>A (p.Ser52Asn)
|
|
|
NM_000080.4(CHRNE):c.176A>T (p.Asn59Ile)
|
|
|
NM_000080.4(CHRNE):c.178C>T (p.Leu60Phe)
|
|
|
NM_000080.4(CHRNE):c.181A>G (p.Ile61Val)
|
|
|
NM_000080.4(CHRNE):c.189G>A (p.Leu63=)
|
|
|
NM_000080.4(CHRNE):c.194A>G (p.Glu65Gly)
|
|
|
NM_000080.4(CHRNE):c.202G>A (p.Glu68Lys)
|
rs149766604
|
|
NM_000080.4(CHRNE):c.202G>C (p.Glu68Gln)
|
rs149766604
|
|
NM_000080.4(CHRNE):c.235G>C (p.Asp79His)
|
rs1200020913
|
|
NM_000080.4(CHRNE):c.235G>T (p.Asp79Tyr)
|
rs1200020913
|
|
NM_000080.4(CHRNE):c.258C>T (p.Asn86=)
|
|
|
NM_000080.4(CHRNE):c.264C>A (p.Ser88Arg)
|
|
|
NM_000080.4(CHRNE):c.281G>T (p.Gly94Val)
|
|
|
NM_000080.4(CHRNE):c.296G>A (p.Arg99Gln)
|
|
|
NM_000080.4(CHRNE):c.301C>G (p.Pro101Ala)
|
|
|
NM_000080.4(CHRNE):c.313G>A (p.Val105Met)
|
|
|
NM_000080.4(CHRNE):c.316T>C (p.Trp106Arg)
|
|
|
NM_000080.4(CHRNE):c.328A>G (p.Ile110Val)
|
|
|
NM_000080.4(CHRNE):c.337G>A (p.Glu113Lys)
|
|
|
NM_000080.4(CHRNE):c.35T>C (p.Leu12Ser)
|
|
|
NM_000080.4(CHRNE):c.35T>G (p.Leu12Trp)
|
|
|
NM_000080.4(CHRNE):c.365T>C (p.Val122Ala)
|
|
|
NM_000080.4(CHRNE):c.376_377delinsTT (p.Ala126Phe)
|
|
|
NM_000080.4(CHRNE):c.380A>C (p.Asn127Thr)
|
|
|
NM_000080.4(CHRNE):c.384_389del (p.Leu129_Val130del)
|
rs1555546980
|
|
NM_000080.4(CHRNE):c.398G>A (p.Gly133Asp)
|
|
|
NM_000080.4(CHRNE):c.400G>A (p.Gly134Ser)
|
|
|
NM_000080.4(CHRNE):c.404C>G (p.Ser135Cys)
|
rs763181728
|
|
NM_000080.4(CHRNE):c.410C>T (p.Thr137Met)
|
rs146089157
|
|
NM_000080.4(CHRNE):c.419C>T (p.Pro140Leu)
|
|
|
NM_000080.4(CHRNE):c.41T>A (p.Leu14His)
|
|
|
NM_000080.4(CHRNE):c.433C>T (p.Arg145Cys)
|
rs1064795871
|
|
NM_000080.4(CHRNE):c.455T>A (p.Val152Asp)
|
|
|
NM_000080.4(CHRNE):c.46+3A>G
|
|
|
NM_000080.4(CHRNE):c.46+4C>T
|
|
|
NM_000080.4(CHRNE):c.506A>G (p.Gln169Arg)
|
|
|
NM_000080.4(CHRNE):c.509C>T (p.Thr170Met)
|
|
|
NM_000080.4(CHRNE):c.515A>G (p.Asn172Ser)
|
|
|
NM_000080.4(CHRNE):c.52G>A (p.Gly18Ser)
|
rs1970033624
|
|
NM_000080.4(CHRNE):c.53G>C (p.Gly18Ala)
|
rs4790235
|
|
NM_000080.4(CHRNE):c.541G>A (p.Ala181Thr)
|
|
|
NM_000080.4(CHRNE):c.546A>G (p.Val182=)
|
|
|
NM_000080.4(CHRNE):c.550A>T (p.Asn184Tyr)
|
|
|
NM_000080.4(CHRNE):c.560A>T (p.Lys187Met)
|
|
|
NM_000080.4(CHRNE):c.572A>T (p.Lys191Met)
|
rs1555546863
|
|
NM_000080.4(CHRNE):c.577G>A (p.Asp193Asn)
|
|
|
NM_000080.4(CHRNE):c.58G>A (p.Gly20Arg)
|
|
|
NM_000080.4(CHRNE):c.599C>G (p.Thr200Ser)
|
rs1969983733
|
|
NM_000080.4(CHRNE):c.602-4_602-3delinsTT
|
rs1597619689
|
|
NM_000080.4(CHRNE):c.619A>G (p.Ile207Val)
|
rs1422386099
|
|
NM_000080.4(CHRNE):c.627C>G (p.Phe209Leu)
|
|
|
NM_000080.4(CHRNE):c.628T>C (p.Cys210Arg)
|
rs2151097468
|
|
NM_000080.4(CHRNE):c.62A>G (p.Lys21Arg)
|
rs1970033266
|
|
NM_000080.4(CHRNE):c.644GCC[3] (p.Arg216_His217insArg)
|
|
|
NM_000080.4(CHRNE):c.653A>C (p.His218Pro)
|
|
|
NM_000080.4(CHRNE):c.661G>A (p.Ala221Thr)
|
|
|
NM_000080.4(CHRNE):c.670G>A (p.Gly224Ser)
|
|
|
NM_000080.4(CHRNE):c.673C>A (p.Pro225Thr)
|
|
|
NM_000080.4(CHRNE):c.682A>G (p.Thr228Ala)
|
|
|
NM_000080.4(CHRNE):c.686A>T (p.Asp229Val)
|
|
|
NM_000080.4(CHRNE):c.694T>C (p.Tyr232His)
|
rs2151097342
|
|
NM_000080.4(CHRNE):c.695_697del (p.Tyr232del)
|
|
|
NM_000080.4(CHRNE):c.709C>T (p.Arg237Cys)
|
|
|
NM_000080.4(CHRNE):c.710G>A (p.Arg237His)
|
rs201434993
|
|
NM_000080.4(CHRNE):c.725T>G (p.Phe242Cys)
|
rs1969968160
|
|
NM_000080.4(CHRNE):c.739ATC[1] (p.Ile248del)
|
|
|
NM_000080.4(CHRNE):c.742A>C (p.Ile248Leu)
|
|
|
NM_000080.4(CHRNE):c.744C>G (p.Ile248Met)
|
|
|
NM_000080.4(CHRNE):c.751T>A (p.Cys251Ser)
|
rs867237170
|
|
NM_000080.4(CHRNE):c.778C>T (p.Leu260Phe)
|
rs1567638591
|
|
NM_000080.4(CHRNE):c.784T>C (p.Tyr262His)
|
|
|
NM_000080.4(CHRNE):c.802G>C (p.Ala268Pro)
|
|
|
NM_000080.4(CHRNE):c.808G>A (p.Gly270Ser)
|
rs1447784617
|
|
NM_000080.4(CHRNE):c.829A>G (p.Ile277Val)
|
|
|
NM_000080.4(CHRNE):c.832A>T (p.Asn278Tyr)
|
rs1284578156
|
|
NM_000080.4(CHRNE):c.851C>T (p.Thr284Ile)
|
|
|
NM_000080.4(CHRNE):c.851_852delinsAG (p.Thr284Lys)
|
|
|
NM_000080.4(CHRNE):c.865C>G (p.Leu289Val)
|
|
|
NM_000080.4(CHRNE):c.883C>G (p.Pro295Ala)
|
|
|
NM_000080.4(CHRNE):c.890C>T (p.Thr297Ile)
|
rs770980262
|
|
NM_000080.4(CHRNE):c.899G>C (p.Ser300Thr)
|
rs776585678
|
|
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met)
|
rs2151096983
|
|
NM_000080.4(CHRNE):c.918G>T (p.Arg306Ser)
|
rs1453842961
|
|
NM_000080.4(CHRNE):c.949C>G (p.Leu317Val)
|
|
|
NM_000080.4(CHRNE):c.960G>A (p.Met320Ile)
|
|
|
NM_000080.4(CHRNE):c.980A>G (p.Asn327Ser)
|
|
|
NM_000080.4(CHRNE):c.994_1023dup (p.Arg341_Leu342insThrProThrThrHisAlaMetSerProArg)
|
|
|
NM_000747.3(CHRNB1):c.1026G>A (p.Met342Ile)
|
rs1909001767
|
|
NM_000747.3(CHRNB1):c.1039C>T (p.Arg347Cys)
|
|
|
NM_000747.3(CHRNB1):c.1079T>C (p.Leu360Pro)
|
rs747724114
|
|
NM_000747.3(CHRNB1):c.1096G>A (p.Glu366Lys)
|
|
|
NM_000747.3(CHRNB1):c.1102G>C (p.Asp368His)
|
rs749009183
|
|
NM_000747.3(CHRNB1):c.1112C>T (p.Pro371Leu)
|
|
|
NM_000747.3(CHRNB1):c.1146C>G (p.Gly382=)
|
rs886053403
|
|
NM_000747.3(CHRNB1):c.1147T>A (p.Trp383Arg)
|
|
|
NM_000747.3(CHRNB1):c.1154G>A (p.Arg385Gln)
|
rs1222134398
|
|
NM_000747.3(CHRNB1):c.1154G>C (p.Arg385Pro)
|
rs1222134398
|
|
NM_000747.3(CHRNB1):c.115_117del (p.Asp39del)
|
rs777431654
|
|
NM_000747.3(CHRNB1):c.1162G>T (p.Asp388Tyr)
|
|
|
NM_000747.3(CHRNB1):c.1172T>G (p.Phe391Cys)
|
|
|
NM_000747.3(CHRNB1):c.1195T>C (p.Phe399Leu)
|
|
|
NM_000747.3(CHRNB1):c.1198C>G (p.Leu400Val)
|
|
|
NM_000747.3(CHRNB1):c.1205C>G (p.Pro402Arg)
|
|
|
NM_000747.3(CHRNB1):c.1217+15G>T
|
|
|
NM_000747.3(CHRNB1):c.1218-3C>T
|
rs886053404
|
|
NM_000747.3(CHRNB1):c.1230_1244dup (p.Pro414_Asp415insGluLeuSerAlaPro)
|
|
|
NM_000747.3(CHRNB1):c.1234T>C (p.Ser412Pro)
|
|
|
NM_000747.3(CHRNB1):c.1245_1247delinsATC (p.Asp415_Leu416delinsGluSer)
|
|
|
NM_000747.3(CHRNB1):c.1268C>T (p.Pro423Leu)
|
|
|
NM_000747.3(CHRNB1):c.1279G>A (p.Val427Met)
|
|
|
NM_000747.3(CHRNB1):c.1292del (p.Pro431fs)
|
rs1239393228
|
|
NM_000747.3(CHRNB1):c.1306G>T (p.Val436Phe)
|
|
|
NM_000747.3(CHRNB1):c.1307T>A (p.Val436Asp)
|
rs1597755409
|
|
NM_000747.3(CHRNB1):c.1322G>A (p.Ser441Asn)
|
|
|
NM_000747.3(CHRNB1):c.133G>A (p.Ala45Thr)
|
|
|
NM_000747.3(CHRNB1):c.1364C>A (p.Ala455Glu)
|
rs777159945
|
|
NM_000747.3(CHRNB1):c.1365+5del
|
rs2069945881
|
|
NM_000747.3(CHRNB1):c.137G>A (p.Arg46Gln)
|
|
|
NM_000747.3(CHRNB1):c.1380G>A (p.Trp460Ter)
|
|
|
NM_000747.3(CHRNB1):c.13G>A (p.Ala5Thr)
|
|
|
NM_000747.3(CHRNB1):c.1405C>T (p.Arg469Cys)
|
|
|
NM_000747.3(CHRNB1):c.1406G>A (p.Arg469His)
|
rs762250406
|
|
NM_000747.3(CHRNB1):c.1420A>G (p.Thr474Ala)
|
|
|
NM_000747.3(CHRNB1):c.1453G>A (p.Val485Ile)
|
rs2150843850
|
|
NM_000747.3(CHRNB1):c.145G>A (p.Gly49Arg)
|
rs776235550
|
|
NM_000747.3(CHRNB1):c.1472C>T (p.Thr491Met)
|
|
|
NM_000747.3(CHRNB1):c.1481T>C (p.Leu494Ser)
|
|
|
NM_000747.3(CHRNB1):c.1497del (p.Pro501fs)
|
rs749511394
|
|
NM_000747.3(CHRNB1):c.165C>G (p.Ser55Arg)
|
|
|
NM_000747.3(CHRNB1):c.172C>T (p.Leu58Phe)
|
|
|
NM_000747.3(CHRNB1):c.185A>C (p.Gln62Pro)
|
rs1908562302
|
|
NM_000747.3(CHRNB1):c.198+15G>T
|
|
|
NM_000747.3(CHRNB1):c.198+3G>T
|
rs1555551725
|
|
NM_000747.3(CHRNB1):c.198+8C>T
|
rs1452929919
|
|
NM_000747.3(CHRNB1):c.1A>G (p.Met1Val)
|
rs1064795835
|
|
NM_000747.3(CHRNB1):c.214G>A (p.Glu72Lys)
|
rs1908599255
|
|
NM_000747.3(CHRNB1):c.216G>C (p.Glu72Asp)
|
|
|
NM_000747.3(CHRNB1):c.233A>G (p.Tyr78Cys)
|
|
|
NM_000747.3(CHRNB1):c.23T>G (p.Met8Arg)
|
|
|
NM_000747.3(CHRNB1):c.241C>G (p.Leu81Val)
|
|
|
NM_000747.3(CHRNB1):c.257A>G (p.Tyr86Cys)
|
rs1555551838
|
|
NM_000747.3(CHRNB1):c.271G>A (p.Asp91Asn)
|
|
|
NM_000747.3(CHRNB1):c.286G>C (p.Asp96His)
|
rs778968747
|
|
NM_000747.3(CHRNB1):c.288C>A (p.Asp96Glu)
|
|
|
NM_000747.3(CHRNB1):c.290_291delinsAA (p.Gly97Glu)
|
rs2150838192
|
|
NM_000747.3(CHRNB1):c.299C>T (p.Ser100Leu)
|
|
|
NM_000747.3(CHRNB1):c.29TGGGGGCGC[1] (p.10LGA[1])
|
|
|
NM_000747.3(CHRNB1):c.301C>T (p.Leu101Phe)
|
rs1908655813
|
|
NM_000747.3(CHRNB1):c.304C>T (p.Arg102Cys)
|
rs953970739
|
|
NM_000747.3(CHRNB1):c.305G>T (p.Arg102Leu)
|
rs201915086
|
|
NM_000747.3(CHRNB1):c.309C>G (p.Ile103Met)
|
|
|
NM_000747.3(CHRNB1):c.31G>A (p.Gly11Arg)
|
rs1908543374
|
|
NM_000747.3(CHRNB1):c.327G>C (p.Trp109Cys)
|
|
|
NM_000747.3(CHRNB1):c.347T>C (p.Leu116Pro)
|
rs1460616970
|
|
NM_000747.3(CHRNB1):c.353+5_353+7del
|
|
|
NM_000747.3(CHRNB1):c.354C>T (p.Asn118=)
|
|
|
NM_000747.3(CHRNB1):c.361G>C (p.Gly121Arg)
|
rs1908667282
|
|
NM_000747.3(CHRNB1):c.36_37delinsAA (p.Leu13Met)
|
rs1555551699
|
|
NM_000747.3(CHRNB1):c.386T>C (p.Ile129Thr)
|
rs762779280
|
|
NM_000747.3(CHRNB1):c.38T>C (p.Leu13Pro)
|
|
|
NM_000747.3(CHRNB1):c.398T>C (p.Val133Ala)
|
rs1028135504
|
|
NM_000747.3(CHRNB1):c.404C>T (p.Ser135Phe)
|
|
|
NM_000747.3(CHRNB1):c.406G>T (p.Asp136Tyr)
|
|
|
NM_000747.3(CHRNB1):c.40_48del (p.Gly14_Pro16del)
|
rs1250653617
|
|
NM_000747.3(CHRNB1):c.427C>A (p.Pro143Thr)
|
|
|
NM_000747.3(CHRNB1):c.433G>A (p.Gly145Ser)
|
|
|
NM_000747.3(CHRNB1):c.44C>G (p.Ala15Gly)
|
rs75926342
|
|
NM_000747.3(CHRNB1):c.485G>C (p.Trp162Ser)
|
|
|
NM_000747.3(CHRNB1):c.504G>T (p.Val168=)
|
|
|
NM_000747.3(CHRNB1):c.506T>G (p.Phe169Cys)
|
rs1567677415
|
|
NM_000747.3(CHRNB1):c.512C>G (p.Ser171Cys)
|
|
|
NM_000747.3(CHRNB1):c.515A>G (p.Tyr172Cys)
|
|
|
NM_000747.3(CHRNB1):c.523G>A (p.Asp175Asn)
|
|
|
NM_000747.3(CHRNB1):c.53C>G (p.Ala18Gly)
|
rs534380483
|
|
NM_000747.3(CHRNB1):c.557G>A (p.Gly186Asp)
|
|
|
NM_000747.3(CHRNB1):c.58+4A>G
|
|
|
NM_000747.3(CHRNB1):c.59-3_60dup
|
|
|
NM_000747.3(CHRNB1):c.593A>C (p.His198Pro)
|
|
|
NM_000747.3(CHRNB1):c.631A>G (p.Ile211Val)
|
rs1908757011
|
|
NM_000747.3(CHRNB1):c.667G>A (p.Asp223Asn)
|
|
|
NM_000747.3(CHRNB1):c.670C>A (p.Pro224Thr)
|
|
|
NM_000747.3(CHRNB1):c.689G>A (p.Gly230Glu)
|
|
|
NM_000747.3(CHRNB1):c.695G>A (p.Arg232His)
|
|
|
NM_000747.3(CHRNB1):c.695G>T (p.Arg232Leu)
|
rs202080837
|
|
NM_000747.3(CHRNB1):c.715C>T (p.Leu239Phe)
|
|
|
NM_000747.3(CHRNB1):c.719T>A (p.Ile240Asn)
|
rs2150839386
|
|
NM_000747.3(CHRNB1):c.71C>T (p.Ser24Leu)
|
|
|
NM_000747.3(CHRNB1):c.725G>T (p.Arg242Leu)
|
rs79220301
|
|
NM_000747.3(CHRNB1):c.754G>T (p.Val252Phe)
|
rs751045224
|
|
NM_000747.3(CHRNB1):c.766T>C (p.Cys256Arg)
|
|
|
NM_000747.3(CHRNB1):c.775A>T (p.Ile259Phe)
|
rs1908768345
|
|
NM_000747.3(CHRNB1):c.793T>G (p.Phe265Val)
|
rs1908769177
|
|
NM_000747.3(CHRNB1):c.796G>A (p.Val266Ile)
|
|
|
NM_000747.3(CHRNB1):c.801C>G (p.Phe267Leu)
|
rs1908769664
|
|
NM_000747.3(CHRNB1):c.808C>A (p.Pro270Thr)
|
rs749302262
|
|
NM_000747.3(CHRNB1):c.859C>G (p.Leu287Val)
|
|
|
NM_000747.3(CHRNB1):c.901A>G (p.Thr301Ala)
|
|
|
NM_000747.3(CHRNB1):c.92G>A (p.Arg31Gln)
|
|
|
NM_000747.3(CHRNB1):c.956T>C (p.Val319Ala)
|
rs1908998622
|
|
NM_000747.3(CHRNB1):c.959C>T (p.Thr320Ile)
|
|
|
NM_000747.3(CHRNB1):c.963C>G (p.Phe321Leu)
|
|
|
NM_000747.3(CHRNB1):c.979G>A (p.Val327Ile)
|
|
|
NM_000747.3(CHRNB1):c.982G>A (p.Val328Met)
|
rs865958957
|
|
NM_001145536.2(C17orf107):c.*1095G>A
|
|
|
NM_001145536.2(C17orf107):c.*1897A>T
|
|
|
NM_001171613.2(PREPL):c.-29A>G
|
|
|
NM_001171613.2(PREPL):c.-2A>G
|
rs2104023319
|
|
NM_001171613.2(PREPL):c.-36G>C
|
rs147513483
|
|
NM_001171613.2(PREPL):c.-49+1665A>C
|
rs766377212
|
|
NM_001171613.2(PREPL):c.-49+1665A>G
|
rs766377212
|
|
NM_001171613.2(PREPL):c.-49+1676G>C
|
rs760360976
|
|
NM_001171613.2(PREPL):c.-49+1689C>T
|
rs2104272169
|
|
NM_001171613.2(PREPL):c.-49+1696C>A
|
|
|
NM_001171613.2(PREPL):c.-49+1719C>T
|
|
|
NM_001171613.2(PREPL):c.-49+1743C>T
|
|
|
NM_001171613.2(PREPL):c.-49+1749A>T
|
rs1211012506
|
|
NM_001171613.2(PREPL):c.-49+1761T>G
|
|
|
NM_001171613.2(PREPL):c.-49+1765C>T
|
|
|
NM_001171613.2(PREPL):c.-49+1783G>C
|
rs1572594874
|
|
NM_001171613.2(PREPL):c.-49+1784A>T
|
rs773880492
|
|
NM_001171613.2(PREPL):c.-49+1806C>A
|
rs749323802
|
|
NM_001171613.2(PREPL):c.-49+1810C>G
|
|
|
NM_001171613.2(PREPL):c.-49+1830C>T
|
|
|
NM_001171613.2(PREPL):c.-49+1839T>A
|
|
|
NM_001171613.2(PREPL):c.-49+1840C>T
|
|
|
NM_001171613.2(PREPL):c.-49+1867G>A
|
|
|
NM_001171613.2(PREPL):c.1013T>C (p.Leu338Pro)
|
rs750867025
|
|
NM_001171613.2(PREPL):c.1022A>G (p.Glu341Gly)
|
rs1674225235
|
|
NM_001171613.2(PREPL):c.1033G>A (p.Glu345Lys)
|
|
|
NM_001171613.2(PREPL):c.1038C>G (p.Asp346Glu)
|
rs1674223059
|
|
NM_001171613.2(PREPL):c.1067G>A (p.Arg356His)
|
|
|
NM_001171613.2(PREPL):c.1067G>T (p.Arg356Leu)
|
|
|
NM_001171613.2(PREPL):c.1087G>T (p.Asp363Tyr)
|
|
|
NM_001171613.2(PREPL):c.1106T>C (p.Met369Thr)
|
|
|
NM_001171613.2(PREPL):c.1111G>A (p.Val371Ile)
|
|
|
NM_001171613.2(PREPL):c.1137C>G (p.Asp379Glu)
|
|
|
NM_001171613.2(PREPL):c.1153C>T (p.Leu385Phe)
|
|
|
NM_001171613.2(PREPL):c.1175C>G (p.Ala392Gly)
|
|
|
NM_001171613.2(PREPL):c.1214G>A (p.Arg405Lys)
|
|
|
NM_001171613.2(PREPL):c.1217G>A (p.Arg406Gln)
|
|
|
NM_001171613.2(PREPL):c.1235G>T (p.Gly412Val)
|
rs1673812684
|
|
NM_001171613.2(PREPL):c.1237T>C (p.Trp413Arg)
|
|
|
NM_001171613.2(PREPL):c.1240A>T (p.Ile414Leu)
|
rs2103785706
|
|
NM_001171613.2(PREPL):c.1242A>G (p.Ile414Met)
|
|
|
NM_001171613.2(PREPL):c.125G>A (p.Arg42His)
|
|
|
NM_001171613.2(PREPL):c.1263-7A>G
|
|
|
NM_001171613.2(PREPL):c.1264G>A (p.Gly422Ser)
|
rs1470419476
|
|
NM_001171613.2(PREPL):c.1293C>A (p.His431Gln)
|
|
|
NM_001171613.2(PREPL):c.1295C>T (p.Ala432Val)
|
|
|
NM_001171613.2(PREPL):c.1312A>G (p.Lys438Glu)
|
rs1673555028
|
|
NM_001171613.2(PREPL):c.1355C>T (p.Thr452Met)
|
rs774180242
|
|
NM_001171613.2(PREPL):c.1360C>T (p.His454Tyr)
|
|
|
NM_001171613.2(PREPL):c.1369G>A (p.Gly457Ser)
|
rs2103751191
|
|
NM_001171613.2(PREPL):c.1409G>A (p.Ser470Asn)
|
rs2103750576
|
|
NM_001171613.2(PREPL):c.1413T>A (p.Ala471=)
|
|
|
NM_001171613.2(PREPL):c.142+5dup
|
|
|
NM_001171613.2(PREPL):c.142G>A (p.Ala48Thr)
|
rs267599387
|
|
NM_001171613.2(PREPL):c.143-3C>A
|
|
|
NM_001171613.2(PREPL):c.143-3C>T
|
rs545943181
|
|
NM_001171613.2(PREPL):c.1433C>T (p.Ala478Val)
|
rs1202291365
|
|
NM_001171613.2(PREPL):c.1436T>C (p.Leu479Ser)
|
|
|
NM_001171613.2(PREPL):c.1445C>A (p.Ser482Tyr)
|
rs13402626
|
|
NM_001171613.2(PREPL):c.1445C>T (p.Ser482Phe)
|
|
|
NM_001171613.2(PREPL):c.1512G>T (p.Met504Ile)
|
rs1396221301
|
|
NM_001171613.2(PREPL):c.1514A>G (p.Asp505Gly)
|
rs772992697
|
|
NM_001171613.2(PREPL):c.1568C>G (p.Ser523Cys)
|
rs1673168126
|
|
NM_001171613.2(PREPL):c.1594A>G (p.Lys532Glu)
|
|
|
NM_001171613.2(PREPL):c.1598G>A (p.Arg533His)
|
rs375292548
|
|
NM_001171613.2(PREPL):c.1624C>T (p.Pro542Ser)
|
rs1436277134
|
|
NM_001171613.2(PREPL):c.1629+5T>G
|
rs777121021
|
|
NM_001171613.2(PREPL):c.1630-4_1630-3delinsAT
|
rs1673117158
|
|
NM_001171613.2(PREPL):c.1630-5T>C
|
rs2103687602
|
|
NM_001171613.2(PREPL):c.1636C>A (p.Pro546Thr)
|
|
|
NM_001171613.2(PREPL):c.1666G>T (p.Asp556Tyr)
|
|
|
NM_001171613.2(PREPL):c.1688G>A (p.Gly563Glu)
|
|
|
NM_001171613.2(PREPL):c.1691T>C (p.Ile564Thr)
|
|
|
NM_001171613.2(PREPL):c.1725C>G (p.Ile575Met)
|
|
|
NM_001171613.2(PREPL):c.1763C>G (p.Thr588Ser)
|
rs1672994938
|
|
NM_001171613.2(PREPL):c.1771ATT[1] (p.Ile592del)
|
rs777599665
|
|
NM_001171613.2(PREPL):c.1784T>C (p.Ile595Thr)
|
|
|
NM_001171613.2(PREPL):c.1792G>C (p.Gly598Arg)
|
rs1672990690
|
|
NM_001171613.2(PREPL):c.1798A>C (p.Asn600His)
|
rs770897811
|
|
NM_001171613.2(PREPL):c.1799A>G (p.Asn600Ser)
|
|
|
NM_001171613.2(PREPL):c.179A>G (p.Glu60Gly)
|
rs1207275366
|
|
NM_001171613.2(PREPL):c.1815T>G (p.Asp605Glu)
|
rs2103667636
|
|
NM_001171613.2(PREPL):c.1827+3A>G
|
rs1228947728
|
|
NM_001171613.2(PREPL):c.1827+5G>A
|
rs1672986669
|
|
NM_001171613.2(PREPL):c.1828-3_1828-2insCACAAATGTCCTATCTATGGGTGAGACCCAGGAGGGGAGGGAGGGACACTGTGTCAATCAAG
|
|
|
NM_001171613.2(PREPL):c.1839A>C (p.Gln613His)
|
rs574404474
|
|
NM_001171613.2(PREPL):c.1839A>T (p.Gln613His)
|
rs574404474
|
|
NM_001171613.2(PREPL):c.1850T>C (p.Leu617Pro)
|
rs537620020
|
|
NM_001171613.2(PREPL):c.1870G>C (p.Asp624His)
|
rs969589260
|
|
NM_001171613.2(PREPL):c.1882G>T (p.Val628Phe)
|
rs1433913896
|
|
NM_001171613.2(PREPL):c.1905C>A (p.Tyr635Ter)
|
rs759556547
|
|
NM_001171613.2(PREPL):c.211T>A (p.Cys71Ser)
|
|
|
NM_001171613.2(PREPL):c.220G>C (p.Val74Leu)
|
rs370857739
|
|
NM_001171613.2(PREPL):c.221T>G (p.Val74Gly)
|
rs1572895694
|
|
NM_001171613.2(PREPL):c.229G>C (p.Asp77His)
|
|
|
NM_001171613.2(PREPL):c.238T>C (p.Tyr80His)
|
rs2103986081
|
|
NM_001171613.2(PREPL):c.241G>T (p.Val81Leu)
|
|
|
NM_001171613.2(PREPL):c.252G>C (p.Lys84Asn)
|
|
|
NM_001171613.2(PREPL):c.280A>G (p.Thr94Ala)
|
|
|
NM_001171613.2(PREPL):c.292A>G (p.Ile98Val)
|
rs2103985444
|
|
NM_001171613.2(PREPL):c.304G>A (p.Asp102Asn)
|
rs761397318
|
|
NM_001171613.2(PREPL):c.304G>C (p.Asp102His)
|
|
|
NM_001171613.2(PREPL):c.31T>G (p.Leu11Val)
|
rs2104022746
|
|
NM_001171613.2(PREPL):c.326C>G (p.Ser109Cys)
|
|
|
NM_001171613.2(PREPL):c.348T>G (p.Phe116Leu)
|
rs768746948
|
|
NM_001171613.2(PREPL):c.355G>T (p.Val119Leu)
|
rs1675337911
|
|
NM_001171613.2(PREPL):c.380T>C (p.Val127Ala)
|
rs2103969323
|
|
NM_001171613.2(PREPL):c.3G>T (p.Met1Ile)
|
rs768841224
|
|
NM_001171613.2(PREPL):c.402G>C (p.Arg134Ser)
|
rs769834327
|
|
NM_001171613.2(PREPL):c.405C>A (p.Asn135Lys)
|
rs1675332417
|
|
NM_001171613.2(PREPL):c.406C>G (p.Leu136Val)
|
rs1675332243
|
|
NM_001171613.2(PREPL):c.409C>T (p.Arg137Cys)
|
|
|
NM_001171613.2(PREPL):c.416A>C (p.His139Pro)
|
|
|
NM_001171613.2(PREPL):c.421G>A (p.Val141Ile)
|
|
|
NM_001171613.2(PREPL):c.425A>T (p.Tyr142Phe)
|
rs778744293
|
|
NM_001171613.2(PREPL):c.434C>G (p.Thr145Ser)
|
|
|
NM_001171613.2(PREPL):c.440G>C (p.Gly147Ala)
|
|
|
NM_001171613.2(PREPL):c.470C>G (p.Thr157Arg)
|
rs374720840
|
|
NM_001171613.2(PREPL):c.485+4del
|
|
|
NM_001171613.2(PREPL):c.505C>G (p.Leu169Val)
|
rs532684912
|
|
NM_001171613.2(PREPL):c.505C>T (p.Leu169Phe)
|
|
|
NM_001171613.2(PREPL):c.509C>T (p.Thr170Ile)
|
rs1674971927
|
|
NM_001171613.2(PREPL):c.520C>G (p.Arg174Gly)
|
|
|
NM_001171613.2(PREPL):c.521G>A (p.Arg174His)
|
rs145964404
|
|
NM_001171613.2(PREPL):c.521G>C (p.Arg174Pro)
|
rs145964404
|
|
NM_001171613.2(PREPL):c.521G>T (p.Arg174Leu)
|
rs145964404
|
|
NM_001171613.2(PREPL):c.539T>G (p.Ile180Ser)
|
|
|
NM_001171613.2(PREPL):c.546C>A (p.Asn182Lys)
|
rs200837029
|
|
NM_001171613.2(PREPL):c.572T>G (p.Ile191Arg)
|
rs1363159797
|
|
NM_001171613.2(PREPL):c.574G>A (p.Asp192Asn)
|
|
|
NM_001171613.2(PREPL):c.595C>G (p.Pro199Ala)
|
|
|
NM_001171613.2(PREPL):c.608T>C (p.Ile203Thr)
|
rs947027506
|
|
NM_001171613.2(PREPL):c.623A>G (p.His208Arg)
|
|
|
NM_001171613.2(PREPL):c.638A>C (p.Tyr213Ser)
|
rs947243243
|
|
NM_001171613.2(PREPL):c.640G>C (p.Val214Leu)
|
|
|
NM_001171613.2(PREPL):c.641T>A (p.Val214Asp)
|
|
|
NM_001171613.2(PREPL):c.652G>A (p.Asp218Asn)
|
|
|
NM_001171613.2(PREPL):c.657T>G (p.Asp219Glu)
|
rs762650967
|
|
NM_001171613.2(PREPL):c.68A>C (p.Asn23Thr)
|
rs138377728
|
|
NM_001171613.2(PREPL):c.699T>G (p.Phe233Leu)
|
|
|
NM_001171613.2(PREPL):c.703-15C>G
|
|
|
NM_001171613.2(PREPL):c.721G>A (p.Asp241Asn)
|
rs1674871167
|
|
NM_001171613.2(PREPL):c.725C>G (p.Thr242Ser)
|
|
|
NM_001171613.2(PREPL):c.727C>A (p.Pro243Thr)
|
rs760265313
|
|
NM_001171613.2(PREPL):c.727C>T (p.Pro243Ser)
|
|
|
NM_001171613.2(PREPL):c.75+5G>C
|
|
|
NM_001171613.2(PREPL):c.775A>G (p.Lys259Glu)
|
|
|
NM_001171613.2(PREPL):c.778G>T (p.Val260Leu)
|
rs1674865285
|
|
NM_001171613.2(PREPL):c.826C>T (p.His276Tyr)
|
rs1456483986
|
|
NM_001171613.2(PREPL):c.850G>A (p.Val284Met)
|
rs774240653
|
|
NM_001171613.2(PREPL):c.874G>C (p.Val292Leu)
|
|
|
NM_001171613.2(PREPL):c.877C>T (p.Arg293Trp)
|
rs745708452
|
|
NM_001171613.2(PREPL):c.888+4del
|
rs2103912340
|
|
NM_001171613.2(PREPL):c.889-11T>A
|
|
|
NM_001171613.2(PREPL):c.908G>A (p.Gly303Glu)
|
rs1253183224
|
|
NM_001171613.2(PREPL):c.915A>G (p.Ile305Met)
|
|
|
NM_001171613.2(PREPL):c.920A>T (p.Asp307Val)
|
rs1674235649
|
|
NM_001171613.2(PREPL):c.932A>G (p.Asp311Gly)
|
|
|
NM_001171613.2(PREPL):c.934C>T (p.Pro312Ser)
|
|
|
NM_001171613.2(PREPL):c.939G>T (p.Lys313Asn)
|
|
|
NM_001171613.2(PREPL):c.970C>T (p.Arg324Cys)
|
rs770607340
|
|
NM_001171613.2(PREPL):c.971G>T (p.Arg324Leu)
|
rs374093145
|
|
NM_001171613.2(PREPL):c.97T>G (p.Tyr33Asp)
|
|
|
NM_001171613.2(PREPL):c.981A>G (p.Lys327=)
|
rs2103839067
|
|
NM_001171613.2(PREPL):c.983A>G (p.Tyr328Cys)
|
|
|
NM_001244710.2(GFPT1):c.*22C>T
|
rs199678034
|
|
NM_001244710.2(GFPT1):c.1074G>A (p.Met358Ile)
|
|
|
NM_001244710.2(GFPT1):c.1079G>A (p.Gly360Glu)
|
|
|
NM_001244710.2(GFPT1):c.107A>G (p.Asp36Gly)
|
|
|
NM_001244710.2(GFPT1):c.1103C>T (p.Thr368Ile)
|
|
|
NM_001244710.2(GFPT1):c.1105G>A (p.Val369Met)
|
|
|
NM_001244710.2(GFPT1):c.1154G>A (p.Arg385Gln)
|
rs1670968909
|
|
NM_001244710.2(GFPT1):c.115G>A (p.Gly39Ser)
|
rs1671812593
|
|
NM_001244710.2(GFPT1):c.1178G>C (p.Gly393Ala)
|
rs1553388425
|
|
NM_001244710.2(GFPT1):c.1183A>G (p.Ser395Gly)
|
rs1553388422
|
|
NM_001244710.2(GFPT1):c.1187A>T (p.Tyr396Phe)
|
rs1553388418
|
|
NM_001244710.2(GFPT1):c.1204-3C>T
|
rs1307653021
|
|
NM_001244710.2(GFPT1):c.1243A>G (p.Met415Val)
|
rs1670858310
|
|
NM_001244710.2(GFPT1):c.1255G>T (p.Ala419Ser)
|
rs2104617186
|
|
NM_001244710.2(GFPT1):c.1309T>A (p.Phe437Ile)
|
rs766450555
|
|
NM_001244710.2(GFPT1):c.1309T>C (p.Phe437Leu)
|
rs766450555
|
|
NM_001244710.2(GFPT1):c.1339A>G (p.Thr447Ala)
|
rs1287808167
|
|
NM_001244710.2(GFPT1):c.1345A>T (p.Met449Leu)
|
|
|
NM_001244710.2(GFPT1):c.134_154dup (p.Gly45_Glu51dup)
|
rs1558773904
|
|
NM_001244710.2(GFPT1):c.1359_1361del (p.Cys454del)
|
|
|
NM_001244710.2(GFPT1):c.137A>G (p.Asn46Ser)
|
|
|
NM_001244710.2(GFPT1):c.1384G>T (p.Val462Leu)
|
|
|
NM_001244710.2(GFPT1):c.1412C>T (p.Ser471Phe)
|
rs1670840972
|
|
NM_001244710.2(GFPT1):c.145G>T (p.Asp49Tyr)
|
|
|
NM_001244710.2(GFPT1):c.1519G>T (p.Ala507Ser)
|
rs1670617199
|
|
NM_001244710.2(GFPT1):c.1534G>A (p.Asp512Asn)
|
rs1553386276
|
|
NM_001244710.2(GFPT1):c.1540C>T (p.Arg514Trp)
|
rs2104600845
|
|
NM_001244710.2(GFPT1):c.1561C>T (p.Arg521Cys)
|
rs1421146245
|
|
NM_001244710.2(GFPT1):c.158A>G (p.Asn53Ser)
|
|
|
NM_001244710.2(GFPT1):c.1685G>A (p.Gly562Glu)
|
|
|
NM_001244710.2(GFPT1):c.1705A>C (p.Thr569Pro)
|
|
|
NM_001244710.2(GFPT1):c.1837A>G (p.Arg613Gly)
|
|
|
NM_001244710.2(GFPT1):c.1898G>A (p.Arg633Gln)
|
rs2104595615
|
|
NM_001244710.2(GFPT1):c.1922A>G (p.Glu641Gly)
|
rs1670547736
|
|
NM_001244710.2(GFPT1):c.1925A>T (p.Asp642Val)
|
rs1553385828
|
|
NM_001244710.2(GFPT1):c.1927A>G (p.Thr643Ala)
|
rs772026265
|
|
NM_001244710.2(GFPT1):c.1936A>G (p.Ile646Val)
|
rs1574039131
|
|
NM_001244710.2(GFPT1):c.1955C>G (p.Thr652Arg)
|
rs781377676
|
|
NM_001244710.2(GFPT1):c.1955C>T (p.Thr652Met)
|
rs781377676
|
|
NM_001244710.2(GFPT1):c.1970A>G (p.His657Arg)
|
rs2104595457
|
|
NM_001244710.2(GFPT1):c.1997T>C (p.Leu666Pro)
|
rs1670545826
|
|
NM_001244710.2(GFPT1):c.2005A>T (p.Ile669Phe)
|
rs2104595390
|
|
NM_001244710.2(GFPT1):c.221A>C (p.His74Pro)
|
rs1671705543
|
|
NM_001244710.2(GFPT1):c.223+6G>A
|
rs1295165260
|
|
NM_001244710.2(GFPT1):c.239A>G (p.Asp80Gly)
|
rs1671535131
|
|
NM_001244710.2(GFPT1):c.247A>G (p.Ile83Val)
|
|
|
NM_001244710.2(GFPT1):c.283C>T (p.Arg95Cys)
|
|
|
NM_001244710.2(GFPT1):c.29A>G (p.Tyr10Cys)
|
rs1553393940
|
|
NM_001244710.2(GFPT1):c.305C>A (p.Pro102His)
|
rs1574074621
|
|
NM_001244710.2(GFPT1):c.305C>G (p.Pro102Arg)
|
rs1574074621
|
|
NM_001244710.2(GFPT1):c.314T>G (p.Val105Gly)
|
rs929836832
|
|
NM_001244710.2(GFPT1):c.329A>G (p.Gln110Arg)
|
rs886056261
|
|
NM_001244710.2(GFPT1):c.330_331delinsAG (p.Arg111Gly)
|
rs1671532532
|
|
NM_001244710.2(GFPT1):c.338A>G (p.Asp113Gly)
|
rs539052842
|
|
NM_001244710.2(GFPT1):c.350-3T>C
|
|
|
NM_001244710.2(GFPT1):c.368A>G (p.Asn123Ser)
|
rs1671414273
|
|
NM_001244710.2(GFPT1):c.396G>C (p.Leu132Phe)
|
|
|
NM_001244710.2(GFPT1):c.403T>G (p.Phe135Val)
|
|
|
NM_001244710.2(GFPT1):c.461A>G (p.Lys154Arg)
|
|
|
NM_001244710.2(GFPT1):c.487C>T (p.Arg163Trp)
|
|
|
NM_001244710.2(GFPT1):c.491A>G (p.Glu164Gly)
|
rs2104655675
|
|
NM_001244710.2(GFPT1):c.505A>G (p.Ser169Gly)
|
rs2104655632
|
|
NM_001244710.2(GFPT1):c.50G>A (p.Arg17Gln)
|
rs775399768
|
|
NM_001244710.2(GFPT1):c.547G>A (p.Gly183Ser)
|
|
|
NM_001244710.2(GFPT1):c.586G>A (p.Gly196Arg)
|
rs370171865
|
|
NM_001244710.2(GFPT1):c.587G>A (p.Gly196Glu)
|
|
|
NM_001244710.2(GFPT1):c.611G>A (p.Gly204Asp)
|
rs2104648108
|
|
NM_001244710.2(GFPT1):c.632T>A (p.Val211Glu)
|
rs1671287962
|
|
NM_001244710.2(GFPT1):c.644A>G (p.His215Arg)
|
|
|
NM_001244710.2(GFPT1):c.649C>G (p.Leu217Val)
|
rs2104648017
|
|
NM_001244710.2(GFPT1):c.652T>C (p.Ser218Pro)
|
|
|
NM_001244710.2(GFPT1):c.655A>G (p.Thr219Ala)
|
|
|
NM_001244710.2(GFPT1):c.697A>G (p.Ile233Val)
|
rs2104647589
|
|
NM_001244710.2(GFPT1):c.6T>G (p.Cys2Trp)
|
rs1164347284
|
|
NM_001244710.2(GFPT1):c.740-11A>G
|
rs769311395
|
|
NM_001244710.2(GFPT1):c.740-8T>C
|
rs2104639173
|
|
NM_001244710.2(GFPT1):c.806A>G (p.Glu269Gly)
|
rs2104639027
|
|
NM_001244710.2(GFPT1):c.845+6C>T
|
rs767647134
|
|
NM_001244710.2(GFPT1):c.902C>T (p.Ala301Val)
|
rs372840289
|
|
NM_001244710.2(GFPT1):c.911A>C (p.Asp304Ala)
|
rs2104635949
|
|
NM_001244710.2(GFPT1):c.929A>T (p.His310Leu)
|
rs1553389515
|
|
NM_001244710.2(GFPT1):c.938A>G (p.Lys313Arg)
|
|
|
NM_001244710.2(GFPT1):c.93G>C (p.Glu31Asp)
|
rs1671813015
|
|
NM_001382.4(DPAGT1):c.1004A>C (p.Lys335Thr)
|
rs1946418638
|
|
NM_001382.4(DPAGT1):c.1005+5C>T
|
|
|
NM_001382.4(DPAGT1):c.1005+6A>T
|
rs1592225596
|
|
NM_001382.4(DPAGT1):c.1007T>C (p.Val336Ala)
|
rs1555207196
|
|
NM_001382.4(DPAGT1):c.1033G>A (p.Val345Ile)
|
|
|
NM_001382.4(DPAGT1):c.103C>T (p.His35Tyr)
|
|
|
NM_001382.4(DPAGT1):c.1051G>A (p.Glu351Lys)
|
rs1475939080
|
|
NM_001382.4(DPAGT1):c.1099C>G (p.Leu367Val)
|
rs980077282
|
|
NM_001382.4(DPAGT1):c.1117C>T (p.Pro373Ser)
|
rs1210999092
|
|
NM_001382.4(DPAGT1):c.1142T>C (p.Leu381Ser)
|
rs2134897889
|
|
NM_001382.4(DPAGT1):c.1161+5G>A
|
rs1946410970
|
|
NM_001382.4(DPAGT1):c.1162A>C (p.Ile388Leu)
|
rs2134897349
|
|
NM_001382.4(DPAGT1):c.1180A>C (p.Thr394Pro)
|
rs2134897273
|
|
NM_001382.4(DPAGT1):c.1200G>T (p.Gln400His)
|
|
|
NM_001382.4(DPAGT1):c.1207C>T (p.Arg403Ter)
|
|
|
NM_001382.4(DPAGT1):c.1208G>A (p.Arg403Gln)
|
|
|
NM_001382.4(DPAGT1):c.1219G>A (p.Asp407Asn)
|
rs2134897091
|
|
NM_001382.4(DPAGT1):c.121C>A (p.Leu41Ile)
|
|
|
NM_001382.4(DPAGT1):c.121C>G (p.Leu41Val)
|
|
|
NM_001382.4(DPAGT1):c.14C>G (p.Ser5Trp)
|
|
|
NM_001382.4(DPAGT1):c.163C>G (p.Pro55Ala)
|
|
|
NM_001382.4(DPAGT1):c.170C>T (p.Ser57Phe)
|
|
|
NM_001382.4(DPAGT1):c.197T>C (p.Phe66Ser)
|
rs1565766177
|
|
NM_001382.4(DPAGT1):c.215G>A (p.Cys72Tyr)
|
rs1274896616
|
|
NM_001382.4(DPAGT1):c.253G>A (p.Glu85Lys)
|
rs781224323
|
|
NM_001382.4(DPAGT1):c.274C>G (p.His92Asp)
|
|
|
NM_001382.4(DPAGT1):c.283-17G>A
|
|
|
NM_001382.4(DPAGT1):c.283-3C>A
|
|
|
NM_001382.4(DPAGT1):c.285T>C (p.Phe95=)
|
|
|
NM_001382.4(DPAGT1):c.286G>T (p.Val96Leu)
|
|
|
NM_001382.4(DPAGT1):c.335G>T (p.Gly112Val)
|
rs1946489072
|
|
NM_001382.4(DPAGT1):c.400C>G (p.Leu134Val)
|
rs1946487222
|
|
NM_001382.4(DPAGT1):c.404C>T (p.Pro135Leu)
|
rs2134913441
|
|
NM_001382.4(DPAGT1):c.406C>A (p.Leu136Ile)
|
rs1946487020
|
|
NM_001382.4(DPAGT1):c.41A>G (p.Asn14Ser)
|
rs373044813
|
|
NM_001382.4(DPAGT1):c.423C>G (p.Phe141Leu)
|
rs1403883479
|
|
NM_001382.4(DPAGT1):c.425C>G (p.Thr142Ser)
|
|
|
NM_001382.4(DPAGT1):c.428A>G (p.Asn143Ser)
|
|
|
NM_001382.4(DPAGT1):c.448G>A (p.Val150Met)
|
rs1555207796
|
|
NM_001382.4(DPAGT1):c.452T>A (p.Val151Glu)
|
|
|
NM_001382.4(DPAGT1):c.457A>C (p.Lys153Gln)
|
rs1946485389
|
|
NM_001382.4(DPAGT1):c.463T>G (p.Phe155Val)
|
rs766131005
|
|
NM_001382.4(DPAGT1):c.466C>A (p.Arg156Ser)
|
|
|
NM_001382.4(DPAGT1):c.574G>A (p.Gly192Ser)
|
rs768464558
|
|
NM_001382.4(DPAGT1):c.575G>T (p.Gly192Val)
|
rs2134911057
|
|
NM_001382.4(DPAGT1):c.592T>A (p.Ser198Thr)
|
|
|
NM_001382.4(DPAGT1):c.660T>G (p.Asp220Glu)
|
rs1386440899
|
|
NM_001382.4(DPAGT1):c.681C>G (p.Phe227Leu)
|
|
|
NM_001382.4(DPAGT1):c.691T>C (p.Phe231Leu)
|
|
|
NM_001382.4(DPAGT1):c.695T>C (p.Phe232Ser)
|
rs1221039307
|
|
NM_001382.4(DPAGT1):c.700A>G (p.Thr234Ala)
|
rs2134903441
|
|
NM_001382.4(DPAGT1):c.710G>C (p.Gly237Ala)
|
|
|
NM_001382.4(DPAGT1):c.715C>T (p.Leu239Phe)
|
rs765676413
|
|
NM_001382.4(DPAGT1):c.731A>G (p.Tyr244Cys)
|
|
|
NM_001382.4(DPAGT1):c.750G>A (p.Val250=)
|
rs2134901634
|
|
NM_001382.4(DPAGT1):c.76G>A (p.Val26Ile)
|
|
|
NM_001382.4(DPAGT1):c.773C>A (p.Ala258Asp)
|
rs780944148
|
|
NM_001382.4(DPAGT1):c.77T>C (p.Val26Ala)
|
|
|
NM_001382.4(DPAGT1):c.850T>C (p.Phe284Leu)
|
|
|
NM_001382.4(DPAGT1):c.859C>T (p.Leu287Phe)
|
rs1946426502
|
|
NM_001382.4(DPAGT1):c.88C>T (p.Pro30Ser)
|
rs1393162163
|
|
NM_001382.4(DPAGT1):c.908G>A (p.Arg303His)
|
rs771322037
|
|
NM_001382.4(DPAGT1):c.908G>T (p.Arg303Leu)
|
|
|
NM_001382.4(DPAGT1):c.918-10C>A
|
rs764154648
|
|
NM_001382.4(DPAGT1):c.944A>G (p.Glu315Gly)
|
rs1946419999
|
|
NM_001382.4(DPAGT1):c.976C>G (p.Leu326Val)
|
rs755527720
|
|
NM_002334.4(LRP4):c.1009T>G (p.Cys337Gly)
|
|
|
NM_002334.4(LRP4):c.1060G>A (p.Gly354Ser)
|
|
|
NM_002334.4(LRP4):c.1076A>T (p.Asn359Ile)
|
|
|
NM_002334.4(LRP4):c.1097C>T (p.Ala366Val)
|
rs1941521066
|
|
NM_002334.4(LRP4):c.1110G>T (p.Gln370His)
|
|
|
NM_002334.4(LRP4):c.1112T>C (p.Met371Thr)
|
rs1164240481
|
|
NM_002334.4(LRP4):c.1118G>C (p.Arg373Pro)
|
|
|
NM_002334.4(LRP4):c.1126G>A (p.Val376Met)
|
rs1243051904
|
|
NM_002334.4(LRP4):c.1187T>A (p.Val396Glu)
|
rs2134851507
|
|
NM_002334.4(LRP4):c.1222G>A (p.Gly408Ser)
|
|
|
NM_002334.4(LRP4):c.1237G>A (p.Glu413Lys)
|
|
|
NM_002334.4(LRP4):c.1279C>T (p.Arg427Trp)
|
|
|
NM_002334.4(LRP4):c.1280G>A (p.Arg427Gln)
|
rs569764064
|
|
NM_002334.4(LRP4):c.1289G>A (p.Arg430Gln)
|
|
|
NM_002334.4(LRP4):c.1309+5G>C
|
|
|
NM_002334.4(LRP4):c.1310-3C>T
|
rs1941491191
|
|
NM_002334.4(LRP4):c.1333G>A (p.Ala445Thr)
|
rs1023257694
|
|
NM_002334.4(LRP4):c.1366C>T (p.His456Tyr)
|
rs1555174047
|
|
NM_002334.4(LRP4):c.1436G>A (p.Arg479His)
|
|
|
NM_002334.4(LRP4):c.1436G>T (p.Arg479Leu)
|
|
|
NM_002334.4(LRP4):c.143A>G (p.Gln48Arg)
|
|
|
NM_002334.4(LRP4):c.1487A>G (p.Asn496Ser)
|
rs746759136
|
|
NM_002334.4(LRP4):c.1488C>A (p.Asn496Lys)
|
rs779961860
|
|
NM_002334.4(LRP4):c.1490T>G (p.Leu497Arg)
|
|
|
NM_002334.4(LRP4):c.1535G>T (p.Ser512Ile)
|
rs769948678
|
|
NM_002334.4(LRP4):c.1540+3A>G
|
rs2134849214
|
|
NM_002334.4(LRP4):c.1560G>C (p.Trp520Cys)
|
|
|
NM_002334.4(LRP4):c.1623_1624inv (p.Gly542Arg)
|
|
|
NM_002334.4(LRP4):c.1627G>A (p.Ala543Thr)
|
|
|
NM_002334.4(LRP4):c.162C>G (p.Asp54Glu)
|
|
|
NM_002334.4(LRP4):c.1634G>A (p.Arg545Gln)
|
|
|
NM_002334.4(LRP4):c.1657C>G (p.Leu553Val)
|
rs751911145
|
|
NM_002334.4(LRP4):c.1670G>A (p.Arg557Gln)
|
|
|
NM_002334.4(LRP4):c.1698-9_1698-5del
|
rs1941399170
|
|
NM_002334.4(LRP4):c.1714G>A (p.Asp572Asn)
|
|
|
NM_002334.4(LRP4):c.1730C>T (p.Pro577Leu)
|
rs1941398250
|
|
NM_002334.4(LRP4):c.1733G>A (p.Arg578His)
|
|
|
NM_002334.4(LRP4):c.1760C>G (p.Ser587Cys)
|
|
|
NM_002334.4(LRP4):c.1765C>T (p.Arg589Cys)
|
|
|
NM_002334.4(LRP4):c.1834A>T (p.Met612Leu)
|
|
|
NM_002334.4(LRP4):c.184G>A (p.Asp62Asn)
|
|
|
NM_002334.4(LRP4):c.1855C>T (p.His619Tyr)
|
|
|
NM_002334.4(LRP4):c.1985G>A (p.Ser662Asn)
|
|
|
NM_002334.4(LRP4):c.1990A>G (p.Asn664Asp)
|
rs1190494235
|
|
NM_002334.4(LRP4):c.2026A>C (p.Ile676Leu)
|
|
|
NM_002334.4(LRP4):c.2032C>T (p.Arg678Cys)
|
|
|
NM_002334.4(LRP4):c.2070G>C (p.Leu690Phe)
|
rs2134837991
|
|
NM_002334.4(LRP4):c.2081G>A (p.Arg694His)
|
rs1406466481
|
|
NM_002334.4(LRP4):c.2090C>T (p.Ala697Val)
|
|
|
NM_002334.4(LRP4):c.2092+5A>G
|
|
|
NM_002334.4(LRP4):c.2113A>G (p.Asn705Asp)
|
|
|
NM_002334.4(LRP4):c.2113AAC[1] (p.Asn706del)
|
rs1565792675
|
|
NM_002334.4(LRP4):c.2119G>A (p.Gly707Arg)
|
rs1382055371
|
|
NM_002334.4(LRP4):c.2201A>C (p.His734Pro)
|
|
|
NM_002334.4(LRP4):c.2213A>C (p.Gln738Pro)
|
|
|
NM_002334.4(LRP4):c.2213A>G (p.Gln738Arg)
|
|
|
NM_002334.4(LRP4):c.2215+5G>A
|
rs1941370233
|
|
NM_002334.4(LRP4):c.2226G>C (p.Lys742Asn)
|
|
|
NM_002334.4(LRP4):c.2258G>A (p.Arg753His)
|
|
|
NM_002334.4(LRP4):c.2261G>A (p.Arg754Gln)
|
|
|
NM_002334.4(LRP4):c.229C>A (p.His77Asn)
|
|
|
NM_002334.4(LRP4):c.230A>G (p.His77Arg)
|
|
|
NM_002334.4(LRP4):c.2321G>A (p.Ser774Asn)
|
|
|
NM_002334.4(LRP4):c.2348G>A (p.Arg783Gln)
|
|
|
NM_002334.4(LRP4):c.2381C>T (p.Thr794Ile)
|
rs2134828263
|
|
NM_002334.4(LRP4):c.2387C>A (p.Thr796Asn)
|
rs753109967
|
|
NM_002334.4(LRP4):c.2531A>G (p.Asn844Ser)
|
rs2134821602
|
|
NM_002334.4(LRP4):c.2534C>T (p.Thr845Ile)
|
|
|
NM_002334.4(LRP4):c.2543G>C (p.Ser848Thr)
|
|
|
NM_002334.4(LRP4):c.2551A>G (p.Thr851Ala)
|
rs2134821502
|
|
NM_002334.4(LRP4):c.256C>T (p.Arg86Cys)
|
|
|
NM_002334.4(LRP4):c.2579G>A (p.Arg860His)
|
|
|
NM_002334.4(LRP4):c.2607G>C (p.Met869Ile)
|
rs1370824030
|
|
NM_002334.4(LRP4):c.2611G>A (p.Gly871Arg)
|
|
|
NM_002334.4(LRP4):c.2617A>G (p.Met873Val)
|
|
|
NM_002334.4(LRP4):c.2626A>C (p.Thr876Pro)
|
rs1592529316
|
|
NM_002334.4(LRP4):c.2735A>T (p.Tyr912Phe)
|
rs756941634
|
|
NM_002334.4(LRP4):c.274G>C (p.Gly92Arg)
|
|
|
NM_002334.4(LRP4):c.2758G>A (p.Ala920Thr)
|
rs1486508644
|
|
NM_002334.4(LRP4):c.2770A>G (p.Met924Val)
|
rs1247727700
|
|
NM_002334.4(LRP4):c.2774A>G (p.Lys925Arg)
|
|
|
NM_002334.4(LRP4):c.2786T>G (p.Phe929Cys)
|
|
|
NM_002334.4(LRP4):c.2815-11G>T
|
|
|
NM_002334.4(LRP4):c.2869C>T (p.Arg957Cys)
|
|
|
NM_002334.4(LRP4):c.2911G>A (p.Ala971Thr)
|
|
|
NM_002334.4(LRP4):c.2918G>A (p.Arg973Gln)
|
|
|
NM_002334.4(LRP4):c.2936G>A (p.Arg979Gln)
|
|
|
NM_002334.4(LRP4):c.2989C>T (p.Arg997Cys)
|
|
|
NM_002334.4(LRP4):c.2990G>A (p.Arg997His)
|
|
|
NM_002334.4(LRP4):c.2995C>T (p.Arg999Trp)
|
|
|
NM_002334.4(LRP4):c.2996G>A (p.Arg999Gln)
|
|
|
NM_002334.4(LRP4):c.3002C>G (p.Pro1001Arg)
|
|
|
NM_002334.4(LRP4):c.3020C>A (p.Ala1007Asp)
|
rs2134807106
|
|
NM_002334.4(LRP4):c.3022A>G (p.Met1008Val)
|
rs886048352
|
|
NM_002334.4(LRP4):c.3049T>C (p.Cys1017Arg)
|
rs2134807022
|
|
NM_002334.4(LRP4):c.3062C>G (p.Pro1021Arg)
|
|
|
NM_002334.4(LRP4):c.3067C>A (p.Pro1023Thr)
|
|
|
NM_002334.4(LRP4):c.3100A>G (p.Ile1034Val)
|
|
|
NM_002334.4(LRP4):c.310G>A (p.Asp104Asn)
|
rs2134865411
|
|
NM_002334.4(LRP4):c.3141G>A (p.Met1047Ile)
|
rs2134802507
|
|
NM_002334.4(LRP4):c.3151C>T (p.Leu1051Phe)
|
|
|
NM_002334.4(LRP4):c.3199C>T (p.Pro1067Ser)
|
|
|
NM_002334.4(LRP4):c.320C>T (p.Pro107Leu)
|
rs2134864767
|
|
NM_002334.4(LRP4):c.3255_3256delinsAC (p.Ile1086Leu)
|
rs1555172311
|
|
NM_002334.4(LRP4):c.3267C>A (p.Asp1089Glu)
|
|
|
NM_002334.4(LRP4):c.3268C>T (p.Pro1090Ser)
|
|
|
NM_002334.4(LRP4):c.3272A>G (p.Gln1091Arg)
|
|
|
NM_002334.4(LRP4):c.3275A>G (p.Glu1092Gly)
|
|
|
NM_002334.4(LRP4):c.3277+5G>A
|
rs374900441
|
|
NM_002334.4(LRP4):c.3292T>A (p.Ser1098Thr)
|
|
|
NM_002334.4(LRP4):c.3343C>A (p.His1115Asn)
|
|
|
NM_002334.4(LRP4):c.3345T>A (p.His1115Gln)
|
|
|
NM_002334.4(LRP4):c.3349G>A (p.Asp1117Asn)
|
|
|
NM_002334.4(LRP4):c.3364+3G>A
|
|
|
NM_002334.4(LRP4):c.3389C>T (p.Ala1130Val)
|
|
|
NM_002334.4(LRP4):c.3406C>T (p.Arg1136Trp)
|
rs777439267
|
|
NM_002334.4(LRP4):c.3451G>A (p.Gly1151Ser)
|
rs1941024656
|
|
NM_002334.4(LRP4):c.3452G>A (p.Gly1151Asp)
|
|
|
NM_002334.4(LRP4):c.3454A>G (p.Asn1152Asp)
|
|
|
NM_002334.4(LRP4):c.3455A>T (p.Asn1152Ile)
|
|
|
NM_002334.4(LRP4):c.3504T>G (p.Ser1168Arg)
|
rs2134799809
|
|
NM_002334.4(LRP4):c.3551C>T (p.Thr1184Ile)
|
rs2134798449
|
|
NM_002334.4(LRP4):c.3554A>T (p.Asp1185Val)
|
|
|
NM_002334.4(LRP4):c.3557G>C (p.Trp1186Ser)
|
rs387906883
|
|
NM_002334.4(LRP4):c.3557G>T (p.Trp1186Leu)
|
|
|
NM_002334.4(LRP4):c.356A>T (p.Asn119Ile)
|
|
|
NM_002334.4(LRP4):c.3571A>C (p.Lys1191Gln)
|
|
|
NM_002334.4(LRP4):c.3613C>T (p.Leu1205Phe)
|
|
|
NM_002334.4(LRP4):c.3641A>G (p.Asn1214Ser)
|
rs1941000568
|
|
NM_002334.4(LRP4):c.3642T>G (p.Asn1214Lys)
|
|
|
NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys)
|
rs786205153
|
|
NM_002334.4(LRP4):c.3829C>T (p.Arg1277Cys)
|
|
|
NM_002334.4(LRP4):c.3844A>C (p.Thr1282Pro)
|
|
|
NM_002334.4(LRP4):c.3890T>C (p.Met1297Thr)
|
|
|
NM_002334.4(LRP4):c.3907G>A (p.Asp1303Asn)
|
rs2134796086
|
|
NM_002334.4(LRP4):c.3908A>C (p.Asp1303Ala)
|
rs777142871
|
|
NM_002334.4(LRP4):c.3911G>A (p.Arg1304Gln)
|
|
|
NM_002334.4(LRP4):c.3925+3G>A
|
rs1217353454
|
|
NM_002334.4(LRP4):c.3955G>A (p.Gly1319Ser)
|
rs756790038
|
|
NM_002334.4(LRP4):c.3979C>T (p.Arg1327Trp)
|
|
|
NM_002334.4(LRP4):c.4102T>C (p.Ser1368Pro)
|
rs1565782170
|
|
NM_002334.4(LRP4):c.4133A>G (p.His1378Arg)
|
|
|
NM_002334.4(LRP4):c.4144C>T (p.Pro1382Ser)
|
rs765240067
|
|
NM_002334.4(LRP4):c.4147G>A (p.Glu1383Lys)
|
|
|
NM_002334.4(LRP4):c.4148A>C (p.Glu1383Ala)
|
rs202151304
|
|
NM_002334.4(LRP4):c.4148A>G (p.Glu1383Gly)
|
rs202151304
|
|
NM_002334.4(LRP4):c.4175A>G (p.Tyr1392Cys)
|
rs2134793655
|
|
NM_002334.4(LRP4):c.4229+4T>C
|
rs1836121973
|
|
NM_002334.4(LRP4):c.4234G>A (p.Ala1412Thr)
|
rs2134789997
|
|
NM_002334.4(LRP4):c.4264G>C (p.Val1422Leu)
|
rs2134789849
|
|
NM_002334.4(LRP4):c.430+4G>A
|
|
|
NM_002334.4(LRP4):c.4346G>A (p.Arg1449Gln)
|
|
|
NM_002334.4(LRP4):c.4397T>C (p.Ile1466Thr)
|
|
|
NM_002334.4(LRP4):c.4400A>G (p.Asn1467Ser)
|
rs886048349
|
|
NM_002334.4(LRP4):c.4424C>G (p.Ala1475Gly)
|
rs1314468807
|
|
NM_002334.4(LRP4):c.4478T>A (p.Ile1493Asn)
|
rs1451422777
|
|
NM_002334.4(LRP4):c.4513G>C (p.Glu1505Gln)
|
|
|
NM_002334.4(LRP4):c.4577C>T (p.Thr1526Ile)
|
|
|
NM_002334.4(LRP4):c.4612C>T (p.Arg1538Trp)
|
|
|
NM_002334.4(LRP4):c.4646G>A (p.Arg1549Gln)
|
rs886048348
|
|
NM_002334.4(LRP4):c.4661G>A (p.Ser1554Asn)
|
|
|
NM_002334.4(LRP4):c.4676C>T (p.Pro1559Leu)
|
|
|
NM_002334.4(LRP4):c.4702T>G (p.Trp1568Gly)
|
rs2134778108
|
|
NM_002334.4(LRP4):c.4727C>G (p.Thr1576Ser)
|
rs2134778058
|
|
NM_002334.4(LRP4):c.4759G>T (p.Gly1587Cys)
|
|
|
NM_002334.4(LRP4):c.4767C>G (p.Asn1589Lys)
|
rs1346806071
|
|
NM_002334.4(LRP4):c.4816G>A (p.Val1606Ile)
|
rs2134777729
|
|
NM_002334.4(LRP4):c.4837G>A (p.Gly1613Arg)
|
rs1940786470
|
|
NM_002334.4(LRP4):c.4850G>A (p.Cys1617Tyr)
|
rs1592515719
|
|
NM_002334.4(LRP4):c.489G>C (p.Glu163Asp)
|
rs1941618309
|
|
NM_002334.4(LRP4):c.4909T>C (p.Cys1637Arg)
|
rs2134776522
|
|
NM_002334.4(LRP4):c.4928C>G (p.Pro1643Arg)
|
rs767372563
|
|
NM_002334.4(LRP4):c.4934G>A (p.Ser1645Asn)
|
|
|
NM_002334.4(LRP4):c.4937G>C (p.Arg1646Pro)
|
rs3816614
|
|
NM_002334.4(LRP4):c.4937G>T (p.Arg1646Leu)
|
rs3816614
|
|
NM_002334.4(LRP4):c.4949T>G (p.Leu1650Arg)
|
|
|
NM_002334.4(LRP4):c.4985C>G (p.Thr1662Ser)
|
rs1384073340
|
|
NM_002334.4(LRP4):c.4990A>G (p.Met1664Val)
|
rs1455143794
|
|
NM_002334.4(LRP4):c.4991T>C (p.Met1664Thr)
|
rs747440221
|
|
NM_002334.4(LRP4):c.5003G>A (p.Ser1668Asn)
|
rs2134774974
|
|
NM_002334.4(LRP4):c.5060G>A (p.Arg1687His)
|
rs751407728
|
|
NM_002334.4(LRP4):c.5109G>T (p.Arg1703Ser)
|
|
|
NM_002334.4(LRP4):c.5113G>A (p.Gly1705Ser)
|
|
|
NM_002334.4(LRP4):c.5126G>C (p.Arg1709Pro)
|
rs560103351
|
|
NM_002334.4(LRP4):c.5140G>A (p.Val1714Ile)
|
rs1002830453
|
|
NM_002334.4(LRP4):c.514G>A (p.Asp172Asn)
|
rs780819863
|
|
NM_002334.4(LRP4):c.5162G>A (p.Gly1721Glu)
|
rs2134765636
|
|
NM_002334.4(LRP4):c.5168A>G (p.His1723Arg)
|
|
|
NM_002334.4(LRP4):c.5194C>T (p.Leu1732Phe)
|
rs1447336134
|
|
NM_002334.4(LRP4):c.5198G>A (p.Ser1733Asn)
|
rs2134765445
|
|
NM_002334.4(LRP4):c.52+6C>A
|
|
|
NM_002334.4(LRP4):c.5243+6T>C
|
rs376294734
|
|
NM_002334.4(LRP4):c.5259_5267del (p.Lys1753_Asp1756delinsAsn)
|
rs1592509652
|
|
NM_002334.4(LRP4):c.525T>A (p.Asp175Glu)
|
|
|
NM_002334.4(LRP4):c.5283C>A (p.Asn1761Lys)
|
|
|
NM_002334.4(LRP4):c.5357T>C (p.Met1786Thr)
|
|
|
NM_002334.4(LRP4):c.5386-12T>C
|
|
|
NM_002334.4(LRP4):c.5402A>G (p.Asn1801Ser)
|
|
|
NM_002334.4(LRP4):c.5414AGA[1] (p.Lys1806del)
|
rs769465803
|
|
NM_002334.4(LRP4):c.5426T>A (p.Ile1809Asn)
|
rs373162825
|
|
NM_002334.4(LRP4):c.5441G>C (p.Cys1814Ser)
|
rs760515633
|
|
NM_002334.4(LRP4):c.548-18C>G
|
rs779705585
|
|
NM_002334.4(LRP4):c.5498G>T (p.Arg1833Leu)
|
|
|
NM_002334.4(LRP4):c.54C>T (p.Gly18=)
|
rs372935440
|
|
NM_002334.4(LRP4):c.5500G>C (p.Gly1834Arg)
|
rs142462686
|
|
NM_002334.4(LRP4):c.5504dup (p.Leu1836fs)
|
|
|
NM_002334.4(LRP4):c.5506C>G (p.Leu1836Val)
|
rs2134750890
|
|
NM_002334.4(LRP4):c.5506C>T (p.Leu1836Phe)
|
|
|
NM_002334.4(LRP4):c.5507T>C (p.Leu1836Pro)
|
|
|
NM_002334.4(LRP4):c.5510T>C (p.Leu1837Pro)
|
|
|
NM_002334.4(LRP4):c.5512C>T (p.Arg1838Trp)
|
|
|
NM_002334.4(LRP4):c.5513G>T (p.Arg1838Leu)
|
|
|
NM_002334.4(LRP4):c.5524T>C (p.Cys1842Arg)
|
|
|
NM_002334.4(LRP4):c.5577C>G (p.Asp1859Glu)
|
|
|
NM_002334.4(LRP4):c.5607G>C (p.Glu1869Asp)
|
|
|
NM_002334.4(LRP4):c.5608C>T (p.Gln1870Ter)
|
|
|
NM_002334.4(LRP4):c.560C>T (p.Pro187Leu)
|
|
|
NM_002334.4(LRP4):c.5633C>T (p.Thr1878Ile)
|
rs1940461595
|
|
NM_002334.4(LRP4):c.5678_5682del (p.Trp1893fs)
|
|
|
NM_002334.4(LRP4):c.5698T>C (p.Ser1900Pro)
|
|
|
NM_002334.4(LRP4):c.611T>C (p.Ile204Thr)
|
rs2134862174
|
|
NM_002334.4(LRP4):c.616G>A (p.Asp206Asn)
|
|
|
NM_002334.4(LRP4):c.637G>A (p.Asp213Asn)
|
|
|
NM_002334.4(LRP4):c.664G>A (p.Glu222Lys)
|
|
|
NM_002334.4(LRP4):c.682C>T (p.His228Tyr)
|
rs2134861515
|
|
NM_002334.4(LRP4):c.713G>A (p.Cys238Tyr)
|
rs770285774
|
|
NM_002334.4(LRP4):c.797-3C>T
|
rs1941546855
|
|
NM_002334.4(LRP4):c.814G>A (p.Ala272Thr)
|
|
|
NM_002334.4(LRP4):c.820C>G (p.Gln274Glu)
|
|
|
NM_002334.4(LRP4):c.827G>A (p.Arg276His)
|
rs1592543038
|
|
NM_002334.4(LRP4):c.83G>A (p.Gly28Asp)
|
rs1183268699
|
|
NM_002334.4(LRP4):c.841C>T (p.Arg281Cys)
|
|
|
NM_002334.4(LRP4):c.862C>G (p.Arg288Gly)
|
|
|
NM_002334.4(LRP4):c.863G>A (p.Arg288His)
|
|
|
NM_002334.4(LRP4):c.86G>A (p.Arg29Gln)
|
|
|
NM_002334.4(LRP4):c.887C>G (p.Ala296Gly)
|
rs1941543958
|
|
NM_002334.4(LRP4):c.926G>A (p.Ser309Asn)
|
|
|
NM_002334.4(LRP4):c.933A>C (p.Gln311His)
|
|
|
NM_002334.4(LRP4):c.952C>G (p.Leu318Val)
|
rs2134854486
|
|
NM_002334.4(LRP4):c.970T>A (p.Cys324Ser)
|
rs2134854401
|
|
NM_005055.5(RAPSN):c.1009C>T (p.Arg337Cys)
|
rs549232026
|
|
NM_005055.5(RAPSN):c.1030G>A (p.Glu344Lys)
|
|
|
NM_005055.5(RAPSN):c.1040C>G (p.Ala347Gly)
|
rs1252992478
|
|
NM_005055.5(RAPSN):c.1062G>C (p.Glu354Asp)
|
|
|
NM_005055.5(RAPSN):c.1069G>C (p.Glu357Gln)
|
rs1595896567
|
|
NM_005055.5(RAPSN):c.1092C>T (p.Gly364=)
|
rs778228002
|
|
NM_005055.5(RAPSN):c.110C>T (p.Ser37Leu)
|
|
|
NM_005055.5(RAPSN):c.1114G>A (p.Glu372Lys)
|
|
|
NM_005055.5(RAPSN):c.1127G>A (p.Arg376Gln)
|
rs1241928450
|
|
NM_005055.5(RAPSN):c.1127G>T (p.Arg376Leu)
|
|
|
NM_005055.5(RAPSN):c.1148C>G (p.Ser383Cys)
|
rs1197895855
|
|
NM_005055.5(RAPSN):c.1152C>A (p.His384Gln)
|
|
|
NM_005055.5(RAPSN):c.115C>G (p.Leu39Val)
|
|
|
NM_005055.5(RAPSN):c.115C>T (p.Leu39Phe)
|
|
|
NM_005055.5(RAPSN):c.1165A>C (p.Arg389=)
|
|
|
NM_005055.5(RAPSN):c.1183G>A (p.Gly395Arg)
|
rs768882267
|
|
NM_005055.5(RAPSN):c.1183G>T (p.Gly395Trp)
|
|
|
NM_005055.5(RAPSN):c.1210C>T (p.Arg404Cys)
|
|
|
NM_005055.5(RAPSN):c.125G>A (p.Arg42His)
|
|
|
NM_005055.5(RAPSN):c.157C>T (p.His53Tyr)
|
rs2076431469
|
|
NM_005055.5(RAPSN):c.173G>A (p.Arg58His)
|
rs373437117
|
|
NM_005055.5(RAPSN):c.175T>C (p.Tyr59His)
|
rs1555143594
|
|
NM_005055.5(RAPSN):c.176A>G (p.Tyr59Cys)
|
rs2153311689
|
|
NM_005055.5(RAPSN):c.192+5G>T
|
|
|
NM_005055.5(RAPSN):c.193-15C>A
|
rs45547231
|
|
NM_005055.5(RAPSN):c.205C>G (p.Gln69Glu)
|
rs1565688293
|
|
NM_005055.5(RAPSN):c.211G>A (p.Asp71Asn)
|
rs150051760
|
|
NM_005055.5(RAPSN):c.232G>A (p.Asp78Asn)
|
rs1198989939
|
|
NM_005055.5(RAPSN):c.233A>T (p.Asp78Val)
|
rs1007398586
|
|
NM_005055.5(RAPSN):c.248T>A (p.Leu83Gln)
|
rs2076424527
|
|
NM_005055.5(RAPSN):c.251A>C (p.Glu84Ala)
|
|
|
NM_005055.5(RAPSN):c.282G>C (p.Glu94Asp)
|
|
|
NM_005055.5(RAPSN):c.290G>A (p.Cys97Tyr)
|
rs2153311318
|
|
NM_005055.5(RAPSN):c.29T>C (p.Ile10Thr)
|
|
|
NM_005055.5(RAPSN):c.316T>C (p.Cys106Arg)
|
rs777801296
|
|
NM_005055.5(RAPSN):c.325T>G (p.Cys109Gly)
|
rs2076423375
|
|
NM_005055.5(RAPSN):c.380T>C (p.Leu127Pro)
|
rs2153311254
|
|
NM_005055.5(RAPSN):c.404G>A (p.Gly135Asp)
|
|
|
NM_005055.5(RAPSN):c.445G>A (p.Ala149Thr)
|
rs1198813718
|
|
NM_005055.5(RAPSN):c.456_457inv (p.Ala153Thr)
|
|
|
NM_005055.5(RAPSN):c.468TGA[1] (p.Asp158del)
|
rs1595902555
|
|
NM_005055.5(RAPSN):c.50A>C (p.Tyr17Ser)
|
|
|
NM_005055.5(RAPSN):c.563A>G (p.Lys188Arg)
|
rs1219888816
|
|
NM_005055.5(RAPSN):c.566C>G (p.Ala189Gly)
|
rs121909257
|
|
NM_005055.5(RAPSN):c.568G>T (p.Ala190Ser)
|
rs779881502
|
|
NM_005055.5(RAPSN):c.581A>G (p.Asn194Ser)
|
rs2076375665
|
|
NM_005055.5(RAPSN):c.595G>T (p.Gly199Cys)
|
|
|
NM_005055.5(RAPSN):c.600G>C (p.Trp200Cys)
|
|
|
NM_005055.5(RAPSN):c.621G>C (p.Met207Ile)
|
rs752415268
|
|
NM_005055.5(RAPSN):c.668G>A (p.Gly223Asp)
|
rs2153309064
|
|
NM_005055.5(RAPSN):c.670_672dup (p.Ser224dup)
|
rs1555142799
|
|
NM_005055.5(RAPSN):c.671G>A (p.Ser224Asn)
|
|
|
NM_005055.5(RAPSN):c.674C>T (p.Ala225Val)
|
rs1565684828
|
|
NM_005055.5(RAPSN):c.680A>G (p.Glu227Gly)
|
|
|
NM_005055.5(RAPSN):c.691-2_732dup
|
rs2076367688
|
|
NM_005055.5(RAPSN):c.724C>G (p.Arg242Gly)
|
|
|
NM_005055.5(RAPSN):c.724C>T (p.Arg242Trp)
|
|
|
NM_005055.5(RAPSN):c.731T>C (p.Leu244Pro)
|
rs2076367706
|
|
NM_005055.5(RAPSN):c.73G>C (p.Ala25Pro)
|
rs1217675127
|
|
NM_005055.5(RAPSN):c.757G>A (p.Ala253Thr)
|
rs2153308622
|
|
NM_005055.5(RAPSN):c.770G>A (p.Arg257Gln)
|
|
|
NM_005055.5(RAPSN):c.775C>G (p.Arg259Gly)
|
rs150207592
|
|
NM_005055.5(RAPSN):c.784C>G (p.Leu262Val)
|
|
|
NM_005055.5(RAPSN):c.793G>A (p.Ala265Thr)
|
rs200695559
|
|
NM_005055.5(RAPSN):c.799C>T (p.Pro267Ser)
|
|
|
NM_005055.5(RAPSN):c.817A>C (p.Met273Leu)
|
|
|
NM_005055.5(RAPSN):c.817A>T (p.Met273Leu)
|
rs1397711588
|
|
NM_005055.5(RAPSN):c.832G>A (p.Glu278Lys)
|
rs1418635230
|
|
NM_005055.5(RAPSN):c.837C>G (p.Ile279Met)
|
rs755310896
|
|
NM_005055.5(RAPSN):c.838G>A (p.Gly280Arg)
|
rs1262674788
|
|
NM_005055.5(RAPSN):c.844C>T (p.Arg282Cys)
|
|
|
NM_005055.5(RAPSN):c.845G>T (p.Arg282Leu)
|
rs143668632
|
|
NM_005055.5(RAPSN):c.850G>A (p.Gly284Arg)
|
rs1294627986
|
|
NM_005055.5(RAPSN):c.902C>T (p.Ala301Val)
|
|
|
NM_005055.5(RAPSN):c.909C>G (p.Asp303Glu)
|
|
|
NM_005055.5(RAPSN):c.912G>A (p.Lys304=)
|
rs1273342588
|
|
NM_005055.5(RAPSN):c.919G>C (p.Asp307His)
|
rs1565683625
|
|
NM_005055.5(RAPSN):c.926T>G (p.Ile309Ser)
|
|
|
NM_005055.5(RAPSN):c.934G>A (p.Ala312Thr)
|
|
|
NM_005055.5(RAPSN):c.935C>T (p.Ala312Val)
|
|
|
NM_005055.5(RAPSN):c.988T>C (p.Cys330Arg)
|
rs2076338568
|
|
NM_005055.5(RAPSN):c.996C>G (p.Ser332Arg)
|
rs1013180221
|
|
NM_005055.5(RAPSN):c.997G>A (p.Glu333Lys)
|
|
|
NM_005055.5(RAPSN):c.997G>C (p.Glu333Gln)
|
rs201947904
|
|
NM_005592.4(MUSK):c.1024G>A (p.Ala342Thr)
|
rs2077509392
|
|
NM_005592.4(MUSK):c.1036G>C (p.Glu346Gln)
|
|
|
NM_005592.4(MUSK):c.1038G>C (p.Glu346Asp)
|
rs764142979
|
|
NM_005592.4(MUSK):c.1052T>C (p.Leu351Pro)
|
|
|
NM_005592.4(MUSK):c.1099C>G (p.Arg367Gly)
|
rs201014623
|
|
NM_005592.4(MUSK):c.1100G>C (p.Arg367Pro)
|
rs1038479586
|
|
NM_005592.4(MUSK):c.1114_1115delinsAA (p.Ala372Asn)
|
|
|
NM_005592.4(MUSK):c.1184G>T (p.Arg395Ile)
|
rs2131956652
|
|
NM_005592.4(MUSK):c.119T>C (p.Leu40Ser)
|
|
|
NM_005592.4(MUSK):c.1220C>T (p.Ala407Val)
|
|
|
NM_005592.4(MUSK):c.1235T>C (p.Val412Ala)
|
|
|
NM_005592.4(MUSK):c.1238T>C (p.Met413Thr)
|
rs930182416
|
|
NM_005592.4(MUSK):c.1277T>A (p.Met426Lys)
|
rs368044285
|
|
NM_005592.4(MUSK):c.129A>T (p.Glu43Asp)
|
rs2131656584
|
|
NM_005592.4(MUSK):c.1324T>A (p.Trp442Arg)
|
|
|
NM_005592.4(MUSK):c.1339T>C (p.Cys447Arg)
|
|
|
NM_005592.4(MUSK):c.1343C>A (p.Ala448Asp)
|
|
|
NM_005592.4(MUSK):c.1384+5G>A
|
rs536529195
|
|
NM_005592.4(MUSK):c.13G>A (p.Val5Ile)
|
rs765874906
|
|
NM_005592.4(MUSK):c.1420G>A (p.Asp474Asn)
|
|
|
NM_005592.4(MUSK):c.1440CTC[2] (p.Ser485del)
|
|
|
NM_005592.4(MUSK):c.1462G>T (p.Val488Phe)
|
|
|
NM_005592.4(MUSK):c.1472C>T (p.Thr491Ile)
|
rs2132023110
|
|
NM_005592.4(MUSK):c.1490T>A (p.Ile497Lys)
|
|
|
NM_005592.4(MUSK):c.1503_1504insACC (p.Met501_Ser502insThr)
|
rs886043719
|
|
NM_005592.4(MUSK):c.1540A>C (p.Thr514Pro)
|
|
|
NM_005592.4(MUSK):c.1543C>G (p.Leu515Val)
|
rs1554755295
|
|
NM_005592.4(MUSK):c.1556GAA[2] (p.Arg521del)
|
rs774582687
|
|
NM_005592.4(MUSK):c.1606C>G (p.Leu536Val)
|
|
|
NM_005592.4(MUSK):c.1613C>G (p.Thr538Arg)
|
rs928134595
|
|
NM_005592.4(MUSK):c.1673C>G (p.Pro558Arg)
|
rs369745938
|
|
NM_005592.4(MUSK):c.1686C>A (p.Asn562Lys)
|
|
|
NM_005592.4(MUSK):c.1706A>T (p.Glu569Val)
|
rs2077843836
|
|
NM_005592.4(MUSK):c.1711C>A (p.Pro571Thr)
|
|
|
NM_005592.4(MUSK):c.1742T>A (p.Ile581Asn)
|
|
|
NM_005592.4(MUSK):c.1751G>A (p.Gly584Glu)
|
|
|
NM_005592.4(MUSK):c.1753G>C (p.Ala585Pro)
|
rs779231840
|
|
NM_005592.4(MUSK):c.1778G>C (p.Arg593Thr)
|
|
|
NM_005592.4(MUSK):c.1784C>G (p.Pro595Arg)
|
rs2077898016
|
|
NM_005592.4(MUSK):c.1795C>T (p.Pro599Ser)
|
rs2077898173
|
|
NM_005592.4(MUSK):c.1804C>T (p.Pro602Ser)
|
rs565780053
|
|
NM_005592.4(MUSK):c.1813A>T (p.Met605Leu)
|
rs758777089
|
|
NM_005592.4(MUSK):c.1815G>A (p.Met605Ile)
|
rs766640370
|
|
NM_005592.4(MUSK):c.1841A>C (p.Glu614Ala)
|
|
|
NM_005592.4(MUSK):c.1847C>G (p.Ser616Trp)
|
rs181652070
|
|
NM_005592.4(MUSK):c.1853A>G (p.Asp618Gly)
|
|
|
NM_005592.4(MUSK):c.1856T>C (p.Met619Thr)
|
rs755642035
|
|
NM_005592.4(MUSK):c.1865A>T (p.Asp622Val)
|
rs1292312575
|
|
NM_005592.4(MUSK):c.1874G>A (p.Arg625Lys)
|
rs2077900685
|
|
NM_005592.4(MUSK):c.1896A>T (p.Glu632Asp)
|
|
|
NM_005592.4(MUSK):c.1898T>C (p.Phe633Ser)
|
rs1161007370
|
|
NM_005592.4(MUSK):c.1906C>A (p.Pro636Thr)
|
|
|
NM_005592.4(MUSK):c.1912A>C (p.Ile638Leu)
|
|
|
NM_005592.4(MUSK):c.1930G>C (p.Val644Leu)
|
rs2132065378
|
|
NM_005592.4(MUSK):c.2023G>A (p.Val675Met)
|
|
|
NM_005592.4(MUSK):c.2065G>A (p.Val689Ile)
|
|
|
NM_005592.4(MUSK):c.207A>T (p.Lys69Asn)
|
rs2076206381
|
|
NM_005592.4(MUSK):c.2090T>A (p.Leu697His)
|
|
|
NM_005592.4(MUSK):c.2125G>A (p.Val709Met)
|
rs2132066572
|
|
NM_005592.4(MUSK):c.2132C>G (p.Ala711Gly)
|
rs758510906
|
|
NM_005592.4(MUSK):c.2155C>T (p.Arg719Cys)
|
rs769211968
|
|
NM_005592.4(MUSK):c.218C>T (p.Thr73Ile)
|
rs750101214
|
|
NM_005592.4(MUSK):c.2208C>G (p.Asn736Lys)
|
rs770373727
|
|
NM_005592.4(MUSK):c.2213T>C (p.Val738Ala)
|
|
|
NM_005592.4(MUSK):c.2249T>A (p.Ile750Asn)
|
rs781506865
|
|
NM_005592.4(MUSK):c.2260G>A (p.Asp754Asn)
|
rs2078078707
|
|
NM_005592.4(MUSK):c.2262C>G (p.Asp754Glu)
|
|
|
NM_005592.4(MUSK):c.2263_2268del (p.Tyr755_Tyr756del)
|
rs1588054209
|
|
NM_005592.4(MUSK):c.2291T>C (p.Ile764Thr)
|
rs1554757211
|
|
NM_005592.4(MUSK):c.2314G>A (p.Glu772Lys)
|
rs2132067786
|
|
NM_005592.4(MUSK):c.2350G>A (p.Asp784Asn)
|
rs2132067949
|
|
NM_005592.4(MUSK):c.2352T>A (p.Asp784Glu)
|
|
|
NM_005592.4(MUSK):c.2411A>G (p.Tyr804Cys)
|
rs533353279
|
|
NM_005592.4(MUSK):c.2423A>G (p.His808Arg)
|
rs2078084308
|
|
NM_005592.4(MUSK):c.243G>T (p.Gly81=)
|
rs1587897093
|
|
NM_005592.4(MUSK):c.2440T>G (p.Tyr814Asp)
|
rs2078084758
|
|
NM_005592.4(MUSK):c.2443G>A (p.Val815Met)
|
rs551520537
|
|
NM_005592.4(MUSK):c.2447G>T (p.Arg816Leu)
|
|
|
NM_005592.4(MUSK):c.2485G>A (p.Val829Met)
|
rs578430
|
|
NM_005592.4(MUSK):c.2501T>C (p.Leu834Pro)
|
rs2078086619
|
|
NM_005592.4(MUSK):c.2517G>C (p.Trp839Cys)
|
rs1011593420
|
|
NM_005592.4(MUSK):c.253A>G (p.Thr85Ala)
|
rs2131669584
|
|
NM_005592.4(MUSK):c.259C>G (p.Leu87Val)
|
rs1198739112
|
|
NM_005592.4(MUSK):c.263G>A (p.Ser88Asn)
|
|
|
NM_005592.4(MUSK):c.348A>C (p.Gln116His)
|
rs2131670048
|
|
NM_005592.4(MUSK):c.360A>C (p.Lys120Asn)
|
rs1318631379
|
|
NM_005592.4(MUSK):c.361C>A (p.Pro121Thr)
|
rs760483928
|
|
NM_005592.4(MUSK):c.361C>T (p.Pro121Ser)
|
|
|
NM_005592.4(MUSK):c.374G>A (p.Arg125His)
|
rs375737188
|
|
NM_005592.4(MUSK):c.374G>T (p.Arg125Leu)
|
rs375737188
|
|
NM_005592.4(MUSK):c.402_403delinsAA (p.Gly135Arg)
|
rs2076418979
|
|
NM_005592.4(MUSK):c.433A>G (p.Met145Val)
|
rs748144400
|
|
NM_005592.4(MUSK):c.474_475delinsAC (p.Asp158_Ser159delinsGluArg)
|
rs1587917824
|
|
NM_005592.4(MUSK):c.479C>T (p.Pro160Leu)
|
rs1308383168
|
|
NM_005592.4(MUSK):c.494C>T (p.Ser165Phe)
|
rs1349731741
|
|
NM_005592.4(MUSK):c.503C>T (p.Ala168Val)
|
|
|
NM_005592.4(MUSK):c.509T>A (p.Leu170His)
|
rs1464415453
|
|
NM_005592.4(MUSK):c.535A>T (p.Asn179Tyr)
|
rs1554738557
|
|
NM_005592.4(MUSK):c.546G>C (p.Lys182Asn)
|
rs1207568075
|
|
NM_005592.4(MUSK):c.568T>C (p.Cys190Arg)
|
|
|
NM_005592.4(MUSK):c.589G>A (p.Gly197Arg)
|
rs768273510
|
|
NM_005592.4(MUSK):c.601T>G (p.Ser201Ala)
|
|
|
NM_005592.4(MUSK):c.617T>A (p.Leu206Gln)
|
|
|
NM_005592.4(MUSK):c.647G>T (p.Arg216Leu)
|
rs188464904
|
|
NM_005592.4(MUSK):c.665A>T (p.Asn222Ile)
|
rs55826142
|
|
NM_005592.4(MUSK):c.674T>A (p.Phe225Tyr)
|
|
|
NM_005592.4(MUSK):c.703G>A (p.Ala235Thr)
|
|
|
NM_005592.4(MUSK):c.721C>T (p.Pro241Ser)
|
rs1564253296
|
|
NM_005592.4(MUSK):c.741A>C (p.Glu247Asp)
|
rs2077002366
|
|
NM_005592.4(MUSK):c.753+5G>A
|
rs2077002564
|
|
NM_005592.4(MUSK):c.757TCT[3] (p.Ser254dup)
|
rs1287375718
|
|
NM_005592.4(MUSK):c.762T>A (p.Ser254=)
|
rs2077190189
|
|
NM_005592.4(MUSK):c.778A>T (p.Ser260Cys)
|
|
|
NM_005592.4(MUSK):c.7G>A (p.Glu3Lys)
|
|
|
NM_005592.4(MUSK):c.83C>T (p.Pro28Leu)
|
|
|
NM_005592.4(MUSK):c.848T>C (p.Ile283Thr)
|
rs2077193041
|
|
NM_005592.4(MUSK):c.899C>A (p.Thr300Asn)
|
rs1554749322
|
|
NM_005592.4(MUSK):c.899C>T (p.Thr300Ile)
|
rs1554749322
|
|
NM_005592.4(MUSK):c.916T>G (p.Trp306Gly)
|
rs1319203200
|
|
NM_005592.4(MUSK):c.920+5G>C
|
|
|
NM_005592.4(MUSK):c.935A>T (p.Asp312Val)
|
rs1362784498
|
|
NM_005592.4(MUSK):c.944_946delinsATA (p.Gly315_Tyr316delinsAspAsn)
|
rs2131955443
|
|
NM_005592.4(MUSK):c.946T>C (p.Tyr316His)
|
rs757775674
|
|
NM_005592.4(MUSK):c.952G>A (p.Ala318Thr)
|
|
|
NM_005592.4(MUSK):c.964G>A (p.Gly322Arg)
|
rs1449532775
|
|
NM_005592.4(MUSK):c.965G>C (p.Gly322Ala)
|
rs2131955587
|
|
NM_005677.4(COLQ):c.1016T>C (p.Phe339Ser)
|
rs2062027386
|
|
NM_005677.4(COLQ):c.1021A>G (p.Arg341Gly)
|
rs2062027221
|
|
NM_005677.4(COLQ):c.1031G>A (p.Arg344Lys)
|
rs149532541
|
|
NM_005677.4(COLQ):c.103G>A (p.Ala35Thr)
|
rs2125197454
|
|
NM_005677.4(COLQ):c.106+5A>G
|
rs755773953
|
|
NM_005677.4(COLQ):c.107-2dup
|
rs2062631055
|
|
NM_005677.4(COLQ):c.1085T>C (p.Phe362Ser)
|
rs754357969
|
|
NM_005677.4(COLQ):c.1090C>G (p.Pro364Ala)
|
rs1357228486
|
|
NM_005677.4(COLQ):c.1102A>G (p.Thr368Ala)
|
rs2062019023
|
|
NM_005677.4(COLQ):c.1106C>T (p.Ala369Val)
|
rs970111842
|
|
NM_005677.4(COLQ):c.1162G>A (p.Asp388Asn)
|
rs1008156537
|
|
NM_005677.4(COLQ):c.116G>T (p.Ser39Ile)
|
rs1289941307
|
|
NM_005677.4(COLQ):c.1172_1173delinsAG (p.Ser391Lys)
|
rs2125085391
|
|
NM_005677.4(COLQ):c.1186G>A (p.Asp396Asn)
|
rs748582765
|
|
NM_005677.4(COLQ):c.1195C>G (p.Arg399Gly)
|
rs779594053
|
|
NM_005677.4(COLQ):c.120G>A (p.Leu40=)
|
|
|
NM_005677.4(COLQ):c.1214G>C (p.Cys405Ser)
|
|
|
NM_005677.4(COLQ):c.1232A>G (p.His411Arg)
|
|
|
NM_005677.4(COLQ):c.1313T>C (p.Leu438Pro)
|
|
|
NM_005677.4(COLQ):c.1318T>C (p.Cys440Arg)
|
|
|
NM_005677.4(COLQ):c.1324_1326del (p.Gln442del)
|
rs2125077483
|
|
NM_005677.4(COLQ):c.1338C>G (p.Ile446Met)
|
rs73818504
|
|
NM_005677.4(COLQ):c.1345A>G (p.Thr449Ala)
|
|
|
NM_005677.4(COLQ):c.1348C>T (p.Pro450Ser)
|
rs2061943968
|
|
NM_005677.4(COLQ):c.134G>A (p.Arg45His)
|
rs761717418
|
|
NM_005677.4(COLQ):c.134G>C (p.Arg45Pro)
|
rs761717418
|
|
NM_005677.4(COLQ):c.1352G>A (p.Cys451Tyr)
|
rs1455550822
|
|
NM_005677.4(COLQ):c.1366T>C (p.Ter456Arg)
|
rs188841362
|
|
NM_005677.4(COLQ):c.140G>T (p.Gly47Val)
|
rs1411203931
|
|
NM_005677.4(COLQ):c.151T>C (p.Cys51Arg)
|
rs1575483857
|
|
NM_005677.4(COLQ):c.154T>C (p.Cys52Arg)
|
rs2062629371
|
|
NM_005677.4(COLQ):c.163A>G (p.Thr55Ala)
|
|
|
NM_005677.4(COLQ):c.168TCC[1] (p.Pro60del)
|
rs753308023
|
|
NM_005677.4(COLQ):c.169C>T (p.Pro57Ser)
|
rs2125139116
|
|
NM_005677.4(COLQ):c.191C>T (p.Pro64Leu)
|
rs188737921
|
|
NM_005677.4(COLQ):c.209G>T (p.Gly70Val)
|
|
|
NM_005677.4(COLQ):c.235A>G (p.Met79Val)
|
|
|
NM_005677.4(COLQ):c.247A>T (p.Met83Leu)
|
rs1575482990
|
|
NM_005677.4(COLQ):c.252G>A (p.Leu84=)
|
rs2062609459
|
|
NM_005677.4(COLQ):c.275C>T (p.Pro92Leu)
|
rs757464366
|
|
NM_005677.4(COLQ):c.305G>A (p.Gly102Glu)
|
rs2062606840
|
|
NM_005677.4(COLQ):c.311C>A (p.Pro104His)
|
|
|
NM_005677.4(COLQ):c.323G>A (p.Gly108Asp)
|
|
|
NM_005677.4(COLQ):c.379C>G (p.Arg127Gly)
|
rs143766249
|
|
NM_005677.4(COLQ):c.37C>G (p.Leu13Val)
|
rs770933718
|
|
NM_005677.4(COLQ):c.382C>G (p.Pro128Ala)
|
|
|
NM_005677.4(COLQ):c.389G>A (p.Arg130Lys)
|
rs750806839
|
|
NM_005677.4(COLQ):c.395G>T (p.Gly132Val)
|
rs1272787369
|
|
NM_005677.4(COLQ):c.404G>C (p.Gly135Ala)
|
rs1443896327
|
|
NM_005677.4(COLQ):c.424A>G (p.Met142Val)
|
rs2125119662
|
|
NM_005677.4(COLQ):c.478G>A (p.Asp160Asn)
|
|
|
NM_005677.4(COLQ):c.502G>T (p.Gly168Trp)
|
|
|
NM_005677.4(COLQ):c.518T>C (p.Met173Thr)
|
|
|
NM_005677.4(COLQ):c.524C>T (p.Ser175Phe)
|
rs1310878358
|
|
NM_005677.4(COLQ):c.555+5G>A
|
rs765867687
|
|
NM_005677.4(COLQ):c.579C>G (p.Asp193Glu)
|
rs2062339652
|
|
NM_005677.4(COLQ):c.58A>G (p.Ile20Val)
|
rs909968550
|
|
NM_005677.4(COLQ):c.619G>A (p.Gly207Arg)
|
|
|
NM_005677.4(COLQ):c.636+5_636+8del
|
rs1471567316
|
|
NM_005677.4(COLQ):c.655G>A (p.Gly219Ser)
|
rs2125109848
|
|
NM_005677.4(COLQ):c.661C>T (p.Pro221Ser)
|
rs2062265717
|
|
NM_005677.4(COLQ):c.664G>C (p.Gly222Arg)
|
rs1472096340
|
|
NM_005677.4(COLQ):c.674G>A (p.Gly225Glu)
|
rs780362486
|
|
NM_005677.4(COLQ):c.686C>A (p.Pro229His)
|
rs2062264716
|
|
NM_005677.4(COLQ):c.688A>G (p.Thr230Ala)
|
|
|
NM_005677.4(COLQ):c.701G>A (p.Gly234Glu)
|
|
|
NM_005677.4(COLQ):c.70C>A (p.Pro24Thr)
|
|
|
NM_005677.4(COLQ):c.717+4A>C
|
rs201550931
|
|
NM_005677.4(COLQ):c.77T>C (p.Phe26Ser)
|
rs2063138065
|
|
NM_005677.4(COLQ):c.823A>G (p.Ile275Val)
|
|
|
NM_005677.4(COLQ):c.833C>G (p.Pro278Arg)
|
rs1341977323
|
|
NM_005677.4(COLQ):c.856G>A (p.Gly286Arg)
|
|
|
NM_005677.4(COLQ):c.859C>T (p.Pro287Ser)
|
rs2125089134
|
|
NM_005677.4(COLQ):c.871T>G (p.Cys291Gly)
|
|
|
NM_005677.4(COLQ):c.874C>T (p.Leu292Phe)
|
rs2062053361
|
|
NM_005677.4(COLQ):c.889A>G (p.Met297Val)
|
|
|
NM_005677.4(COLQ):c.903C>A (p.Asn301Lys)
|
rs1055184620
|
|
NM_005677.4(COLQ):c.905C>T (p.Pro302Leu)
|
|
|
NM_005677.4(COLQ):c.970A>C (p.Asn324His)
|
rs201036462
|
|
NM_005677.4(COLQ):c.987G>C (p.Glu329Asp)
|
rs758991725
|
|
NM_020549.5(CHAT):c.1009G>C (p.Val337Leu)
|
rs1462079971
|
|
NM_020549.5(CHAT):c.1026C>A (p.Asn342Lys)
|
|
|
NM_020549.5(CHAT):c.1048A>C (p.Ile350Leu)
|
rs1411738057
|
|
NM_020549.5(CHAT):c.1069G>T (p.Gly357Trp)
|
rs61731735
|
|
NM_020549.5(CHAT):c.1078G>A (p.Glu360Lys)
|
|
|
NM_020549.5(CHAT):c.1097C>A (p.Thr366Lys)
|
rs533289708
|
|
NM_020549.5(CHAT):c.1097C>T (p.Thr366Met)
|
rs533289708
|
|
NM_020549.5(CHAT):c.1148G>C (p.Arg383Pro)
|
rs779919147
|
|
NM_020549.5(CHAT):c.1155C>G (p.Ile385Met)
|
rs1209379806
|
|
NM_020549.5(CHAT):c.1162G>C (p.Val388Leu)
|
rs747366078
|
|
NM_020549.5(CHAT):c.1177C>T (p.Pro393Ser)
|
|
|
NM_020549.5(CHAT):c.1198G>C (p.Asp400His)
|
rs8178991
|
|
NM_020549.5(CHAT):c.122G>A (p.Gly41Asp)
|
rs1441347177
|
|
NM_020549.5(CHAT):c.122G>C (p.Gly41Ala)
|
rs1441347177
|
|
NM_020549.5(CHAT):c.1281+6C>T
|
rs745923819
|
|
NM_020549.5(CHAT):c.1286T>C (p.Val429Ala)
|
rs1839755600
|
|
NM_020549.5(CHAT):c.1289T>C (p.Val430Ala)
|
|
|
NM_020549.5(CHAT):c.1291G>T (p.Gly431Cys)
|
rs1554807467
|
|
NM_020549.5(CHAT):c.1295G>A (p.Arg432Gln)
|
|
|
NM_020549.5(CHAT):c.1309G>A (p.Gly437Ser)
|
rs562560467
|
|
NM_020549.5(CHAT):c.1313T>C (p.Val438Ala)
|
|
|
NM_020549.5(CHAT):c.1360A>T (p.Thr454Ser)
|
rs745938985
|
|
NM_020549.5(CHAT):c.1381G>T (p.Val461Leu)
|
rs4838544
|
|
NM_020549.5(CHAT):c.1381_1382inv (p.Val461Thr)
|
|
|
NM_020549.5(CHAT):c.1383G>A (p.Val461=)
|
|
|
NM_020549.5(CHAT):c.1408C>G (p.Arg470Gly)
|
|
|
NM_020549.5(CHAT):c.1409G>C (p.Arg470Pro)
|
rs774834313
|
|
NM_020549.5(CHAT):c.1414G>A (p.Asp472Asn)
|
rs2132811983
|
|
NM_020549.5(CHAT):c.1420G>C (p.Val474Leu)
|
rs371719364
|
|
NM_020549.5(CHAT):c.1425C>A (p.Ser475Arg)
|
rs553771451
|
|
NM_020549.5(CHAT):c.1435G>A (p.Ala479Thr)
|
|
|
NM_020549.5(CHAT):c.1435G>C (p.Ala479Pro)
|
rs3793795
|
|
NM_020549.5(CHAT):c.1436C>T (p.Ala479Val)
|
rs1319866298
|
|
NM_020549.5(CHAT):c.1439C>G (p.Pro480Arg)
|
rs1839799283
|
|
NM_020549.5(CHAT):c.1441C>T (p.Arg481Trp)
|
rs751583653
|
|
NM_020549.5(CHAT):c.1450C>T (p.Arg484Trp)
|
rs778801148
|
|
NM_020549.5(CHAT):c.1459T>A (p.Cys487Ser)
|
|
|
NM_020549.5(CHAT):c.146dup (p.Gly50fs)
|
rs1838395196
|
|
NM_020549.5(CHAT):c.1478G>T (p.Gly493Val)
|
rs1180007688
|
|
NM_020549.5(CHAT):c.1481A>C (p.His494Pro)
|
rs1247659665
|
|
NM_020549.5(CHAT):c.1490C>A (p.Ser497Tyr)
|
rs141878259
|
|
NM_020549.5(CHAT):c.1541A>G (p.Tyr514Cys)
|
|
|
NM_020549.5(CHAT):c.1544A>T (p.Lys515Met)
|
|
|
NM_020549.5(CHAT):c.157G>C (p.Gly53Arg)
|
rs968331105
|
|
NM_020549.5(CHAT):c.1597G>A (p.Ala533Thr)
|
|
|
NM_020549.5(CHAT):c.1613C>T (p.Ala538Val)
|
rs1839894638
|
|
NM_020549.5(CHAT):c.1651G>C (p.Val551Leu)
|
rs1564493573
|
|
NM_020549.5(CHAT):c.1652T>G (p.Val551Gly)
|
rs1554808432
|
|
NM_020549.5(CHAT):c.166G>C (p.Gly56Arg)
|
|
|
NM_020549.5(CHAT):c.1697G>A (p.Arg566His)
|
rs1411285839
|
|
NM_020549.5(CHAT):c.1699G>A (p.Val567Met)
|
|
|
NM_020549.5(CHAT):c.1700T>C (p.Val567Ala)
|
rs1839994676
|
|
NM_020549.5(CHAT):c.1703ACA[1] (p.Asn569del)
|
|
|
NM_020549.5(CHAT):c.1718C>T (p.Ala573Val)
|
rs1839995687
|
|
NM_020549.5(CHAT):c.1727A>T (p.Glu576Val)
|
|
|
NM_020549.5(CHAT):c.1777G>A (p.Ala593Thr)
|
|
|
NM_020549.5(CHAT):c.1795C>T (p.Leu599Phe)
|
|
|
NM_020549.5(CHAT):c.181C>A (p.Pro61Thr)
|
rs923971969
|
|
NM_020549.5(CHAT):c.1822A>T (p.Thr608Ser)
|
|
|
NM_020549.5(CHAT):c.1834G>C (p.Val612Leu)
|
|
|
NM_020549.5(CHAT):c.1835T>C (p.Val612Ala)
|
rs1840006246
|
|
NM_020549.5(CHAT):c.1838T>C (p.Met613Thr)
|
rs1840006355
|
|
NM_020549.5(CHAT):c.1839+3G>A
|
rs1840006511
|
|
NM_020549.5(CHAT):c.1843A>G (p.Ile615Val)
|
rs759151717
|
|
NM_020549.5(CHAT):c.1858A>C (p.Ile620Leu)
|
|
|
NM_020549.5(CHAT):c.1859T>G (p.Ile620Ser)
|
rs2132852411
|
|
NM_020549.5(CHAT):c.1863C>A (p.Asp621Glu)
|
|
|
NM_020549.5(CHAT):c.1882C>T (p.Arg628Trp)
|
rs116097791
|
|
NM_020549.5(CHAT):c.1888C>G (p.Leu630Val)
|
|
|
NM_020549.5(CHAT):c.188C>T (p.Ala63Val)
|
|
|
NM_020549.5(CHAT):c.1892C>T (p.Ala631Val)
|
rs765840442
|
|
NM_020549.5(CHAT):c.1918G>A (p.Glu640Lys)
|
rs774403163
|
|
NM_020549.5(CHAT):c.1935A>C (p.Glu645Asp)
|
rs775011277
|
|
NM_020549.5(CHAT):c.1943T>C (p.Leu648Pro)
|
rs1242281029
|
|
NM_020549.5(CHAT):c.1946T>G (p.Met649Arg)
|
|
|
NM_020549.5(CHAT):c.1963C>T (p.Leu655Phe)
|
rs1394460049
|
|
NM_020549.5(CHAT):c.196C>A (p.Arg66Ser)
|
|
|
NM_020549.5(CHAT):c.1978-20T>C
|
|
|
NM_020549.5(CHAT):c.1995G>T (p.Glu665Asp)
|
|
|
NM_020549.5(CHAT):c.1997T>C (p.Met666Thr)
|
rs1485449042
|
|
NM_020549.5(CHAT):c.2039C>T (p.Ala680Val)
|
|
|
NM_020549.5(CHAT):c.2059G>C (p.Glu687Gln)
|
|
|
NM_020549.5(CHAT):c.206C>A (p.Pro69His)
|
rs1283840204
|
|
NM_020549.5(CHAT):c.208del (p.Leu70fs)
|
rs1838400244
|
|
NM_020549.5(CHAT):c.2107TCT[1] (p.Ser705del)
|
rs750942168
|
|
NM_020549.5(CHAT):c.2108C>T (p.Ser703Phe)
|
rs1316112613
|
|
NM_020549.5(CHAT):c.2117A>G (p.Lys706Arg)
|
rs1286894680
|
|
NM_020549.5(CHAT):c.212C>A (p.Pro71Gln)
|
rs1180855605
|
|
NM_020549.5(CHAT):c.2180C>A (p.Pro727His)
|
rs1554809701
|
|
NM_020549.5(CHAT):c.2190C>A (p.Ser730Arg)
|
rs1840309085
|
|
NM_020549.5(CHAT):c.220A>G (p.Thr74Ala)
|
rs1554801418
|
|
NM_020549.5(CHAT):c.2219C>A (p.Thr740Lys)
|
|
|
NM_020549.5(CHAT):c.2228G>T (p.Ser743Ile)
|
rs1840310830
|
|
NM_020549.5(CHAT):c.2238C>A (p.His746Gln)
|
rs1234288422
|
|
NM_020549.5(CHAT):c.224C>T (p.Pro75Leu)
|
|
|
NM_020549.5(CHAT):c.232A>C (p.Thr78Pro)
|
rs1217500618
|
|
NM_020549.5(CHAT):c.238G>C (p.Glu80Gln)
|
rs756348058
|
|
NM_020549.5(CHAT):c.246C>A (p.Cys82Ter)
|
rs1409154681
|
|
NM_020549.5(CHAT):c.24G>T (p.Lys8Asn)
|
rs1444707075
|
|
NM_020549.5(CHAT):c.250G>T (p.Ala84Ser)
|
rs1338798480
|
|
NM_020549.5(CHAT):c.254C>G (p.Ala85Gly)
|
rs1564469074
|
|
NM_020549.5(CHAT):c.275C>A (p.Pro92Gln)
|
rs372298555
|
|
NM_020549.5(CHAT):c.280A>G (p.Arg94Gly)
|
rs1838405822
|
|
NM_020549.5(CHAT):c.287G>T (p.Gly96Val)
|
rs1349499470
|
|
NM_020549.5(CHAT):c.311C>T (p.Pro104Leu)
|
rs2132701987
|
|
NM_020549.5(CHAT):c.35G>A (p.Gly12Glu)
|
rs770749789
|
|
NM_020549.5(CHAT):c.387T>A (p.Ser129=)
|
rs143723043
|
|
NM_020549.5(CHAT):c.413C>A (p.Pro138Gln)
|
rs557059182
|
|
NM_020549.5(CHAT):c.419A>C (p.Gln140Pro)
|
|
|
NM_020549.5(CHAT):c.43G>A (p.Gly15Arg)
|
rs1838388018
|
|
NM_020549.5(CHAT):c.45del (p.Lys16fs)
|
rs1838387913
|
|
NM_020549.5(CHAT):c.463T>C (p.Ser155Pro)
|
rs1838634644
|
|
NM_020549.5(CHAT):c.484A>G (p.Ser162Gly)
|
rs1195682323
|
|
NM_020549.5(CHAT):c.486C>A (p.Ser162Arg)
|
rs2132710676
|
|
NM_020549.5(CHAT):c.506T>C (p.Phe169Ser)
|
rs776499844
|
|
NM_020549.5(CHAT):c.511_512delinsAA (p.Ala171Asn)
|
rs1838636916
|
|
NM_020549.5(CHAT):c.512C>T (p.Ala171Val)
|
|
|
NM_020549.5(CHAT):c.520G>A (p.Gly174Ser)
|
|
|
NM_020549.5(CHAT):c.547C>A (p.Leu183Ile)
|
|
|
NM_020549.5(CHAT):c.547C>T (p.Leu183Phe)
|
rs746030420
|
|
NM_020549.5(CHAT):c.548T>C (p.Leu183Pro)
|
|
|
NM_020549.5(CHAT):c.557G>A (p.Arg186Gln)
|
rs747996335
|
|
NM_020549.5(CHAT):c.557G>C (p.Arg186Pro)
|
rs747996335
|
|
NM_020549.5(CHAT):c.55A>G (p.Arg19Gly)
|
|
|
NM_020549.5(CHAT):c.614A>G (p.Asn205Ser)
|
rs2132712941
|
|
NM_020549.5(CHAT):c.640T>G (p.Ser214Ala)
|
rs1378520155
|
|
NM_020549.5(CHAT):c.662C>T (p.Ala221Val)
|
|
|
NM_020549.5(CHAT):c.693G>C (p.Gln231His)
|
rs1838671242
|
|
NM_020549.5(CHAT):c.712C>G (p.Leu238Val)
|
|
|
NM_020549.5(CHAT):c.715A>G (p.Ile239Val)
|
|
|
NM_020549.5(CHAT):c.764C>T (p.Pro255Leu)
|
rs2132727930
|
|
NM_020549.5(CHAT):c.767C>T (p.Thr256Ile)
|
rs754977595
|
|
NM_020549.5(CHAT):c.769G>A (p.Asp257Asn)
|
rs1564475567
|
|
NM_020549.5(CHAT):c.780A>T (p.Lys260Asn)
|
rs2132727991
|
|
NM_020549.5(CHAT):c.781G>A (p.Gly261Ser)
|
rs1838884383
|
|
NM_020549.5(CHAT):c.782G>A (p.Gly261Asp)
|
rs2132728015
|
|
NM_020549.5(CHAT):c.800C>T (p.Pro267Leu)
|
rs749662741
|
|
NM_020549.5(CHAT):c.806G>T (p.Cys269Phe)
|
|
|
NM_020549.5(CHAT):c.818A>G (p.Tyr273Cys)
|
|
|
NM_020549.5(CHAT):c.82A>G (p.Arg28Gly)
|
|
|
NM_020549.5(CHAT):c.844C>T (p.Leu282Phe)
|
|
|
NM_020549.5(CHAT):c.847C>G (p.Pro283Ala)
|
|
|
NM_020549.5(CHAT):c.850G>A (p.Gly284Ser)
|
|
|
NM_020549.5(CHAT):c.857C>G (p.Thr286Ser)
|
rs1231575273
|
|
NM_020549.5(CHAT):c.869T>C (p.Leu290Pro)
|
|
|
NM_020549.5(CHAT):c.86G>A (p.Arg29Lys)
|
rs1838390973
|
|
NM_020549.5(CHAT):c.883A>G (p.Ser295Gly)
|
rs1473934667
|
|
NM_020549.5(CHAT):c.895C>T (p.Pro299Ser)
|
|
|
NM_020549.5(CHAT):c.916G>C (p.Val306Leu)
|
rs551219437
|
|
NM_020549.5(CHAT):c.920C>G (p.Ala307Gly)
|
rs748250869
|
|
NM_020549.5(CHAT):c.92T>A (p.Val31Glu)
|
rs1016283273
|
|
NM_020549.5(CHAT):c.967C>T (p.Arg323Cys)
|
rs771938918
|
|
NM_020549.5(CHAT):c.973A>G (p.Ser325Gly)
|
rs1838968738
|
|
NM_020549.5(CHAT):c.976G>A (p.Glu326Lys)
|
rs906778274
|
|
NM_021815.5(SLC5A7):c.1012G>T (p.Gly338Cys)
|
rs2104379258
|
|
NM_021815.5(SLC5A7):c.1027G>A (p.Ala343Thr)
|
rs140481686
|
|
NM_021815.5(SLC5A7):c.1046A>G (p.Asp349Gly)
|
rs2104379374
|
|
NM_021815.5(SLC5A7):c.1072A>T (p.Met358Leu)
|
rs762453964
|
|
NM_021815.5(SLC5A7):c.1096C>A (p.Leu366Ile)
|
rs2104379560
|
|
NM_021815.5(SLC5A7):c.10C>G (p.His4Asp)
|
rs1206415590
|
|
NM_021815.5(SLC5A7):c.1114-10T>C
|
|
|
NM_021815.5(SLC5A7):c.1115C>A (p.Ala372Asp)
|
|
|
NM_021815.5(SLC5A7):c.112C>T (p.Arg38Cys)
|
rs935822553
|
|
NM_021815.5(SLC5A7):c.1132G>T (p.Val378Phe)
|
|
|
NM_021815.5(SLC5A7):c.1137G>T (p.Trp379Cys)
|
|
|
NM_021815.5(SLC5A7):c.1138G>A (p.Val380Ile)
|
rs2104382635
|
|
NM_021815.5(SLC5A7):c.113G>A (p.Arg38His)
|
rs1054170676
|
|
NM_021815.5(SLC5A7):c.113G>T (p.Arg38Leu)
|
|
|
NM_021815.5(SLC5A7):c.1153G>T (p.Val385Leu)
|
rs1678267305
|
|
NM_021815.5(SLC5A7):c.117C>A (p.Ser39Arg)
|
|
|
NM_021815.5(SLC5A7):c.1184T>C (p.Met395Thr)
|
rs556748289
|
|
NM_021815.5(SLC5A7):c.1196C>T (p.Thr399Met)
|
|
|
NM_021815.5(SLC5A7):c.1202C>G (p.Thr401Ser)
|
rs1558872383
|
|
NM_021815.5(SLC5A7):c.1204G>A (p.Val402Met)
|
|
|
NM_021815.5(SLC5A7):c.121G>A (p.Ala41Thr)
|
rs1677323077
|
|
NM_021815.5(SLC5A7):c.1220A>G (p.Tyr407Cys)
|
|
|
NM_021815.5(SLC5A7):c.1262T>C (p.Leu421Pro)
|
rs2104383027
|
|
NM_021815.5(SLC5A7):c.1274T>C (p.Leu425Pro)
|
rs2104383051
|
|
NM_021815.5(SLC5A7):c.1286G>A (p.Gly429Glu)
|
|
|
NM_021815.5(SLC5A7):c.1293C>G (p.Asn431Lys)
|
rs2104383095
|
|
NM_021815.5(SLC5A7):c.1300G>A (p.Gly434Arg)
|
rs2104383123
|
|
NM_021815.5(SLC5A7):c.1306G>T (p.Val436Leu)
|
rs148535388
|
|
NM_021815.5(SLC5A7):c.1316A>T (p.Tyr439Phe)
|
rs2104383202
|
|
NM_021815.5(SLC5A7):c.1319T>C (p.Val440Ala)
|
rs1446985615
|
|
NM_021815.5(SLC5A7):c.1357T>C (p.Tyr453His)
|
rs1678278823
|
|
NM_021815.5(SLC5A7):c.1376T>C (p.Leu459Ser)
|
rs145310206
|
|
NM_021815.5(SLC5A7):c.137G>T (p.Gly46Val)
|
|
|
NM_021815.5(SLC5A7):c.1387C>T (p.Pro463Ser)
|
rs1558872670
|
|
NM_021815.5(SLC5A7):c.1399C>A (p.Pro467Thr)
|
|
|
NM_021815.5(SLC5A7):c.1405G>A (p.Asp469Asn)
|
rs1678280904
|
|
NM_021815.5(SLC5A7):c.1409A>G (p.Asn470Ser)
|
rs1678281220
|
|
NM_021815.5(SLC5A7):c.1412G>A (p.Gly471Asp)
|
|
|
NM_021815.5(SLC5A7):c.1415T>G (p.Ile472Arg)
|
|
|
NM_021815.5(SLC5A7):c.1418A>G (p.Tyr473Cys)
|
rs1323329132
|
|
NM_021815.5(SLC5A7):c.1425G>T (p.Gln475His)
|
|
|
NM_021815.5(SLC5A7):c.142G>A (p.Asp48Asn)
|
|
|
NM_021815.5(SLC5A7):c.1436T>G (p.Phe479Cys)
|
rs1274120636
|
|
NM_021815.5(SLC5A7):c.145A>T (p.Ile49Phe)
|
|
|
NM_021815.5(SLC5A7):c.1462T>C (p.Phe488Leu)
|
|
|
NM_021815.5(SLC5A7):c.1469C>T (p.Thr490Ile)
|
|
|
NM_021815.5(SLC5A7):c.146T>C (p.Ile49Thr)
|
|
|
NM_021815.5(SLC5A7):c.1476_1481dup (p.Ile494_Ser495insCysIle)
|
|
|
NM_021815.5(SLC5A7):c.1480A>G (p.Ile494Val)
|
|
|
NM_021815.5(SLC5A7):c.1482C>G (p.Ile494Met)
|
|
|
NM_021815.5(SLC5A7):c.148G>T (p.Gly50Cys)
|
|
|
NM_021815.5(SLC5A7):c.1493C>G (p.Ala498Gly)
|
|
|
NM_021815.5(SLC5A7):c.1498T>C (p.Tyr500His)
|
|
|
NM_021815.5(SLC5A7):c.1500T>A (p.Tyr500Ter)
|
|
|
NM_021815.5(SLC5A7):c.1526C>A (p.Pro509His)
|
|
|
NM_021815.5(SLC5A7):c.1526C>G (p.Pro509Arg)
|
|
|
NM_021815.5(SLC5A7):c.1529A>T (p.Lys510Ile)
|
rs199693962
|
|
NM_021815.5(SLC5A7):c.1543G>C (p.Asp515His)
|
|
|
NM_021815.5(SLC5A7):c.1550T>C (p.Val517Ala)
|
|
|
NM_021815.5(SLC5A7):c.1553T>C (p.Val518Ala)
|
rs1558872967
|
|
NM_021815.5(SLC5A7):c.1556C>G (p.Ala519Gly)
|
rs776499560
|
|
NM_021815.5(SLC5A7):c.1566T>G (p.Ser522Arg)
|
|
|
NM_021815.5(SLC5A7):c.1576A>G (p.Met526Val)
|
|
|
NM_021815.5(SLC5A7):c.1581T>A (p.Asp527Glu)
|
|
|
NM_021815.5(SLC5A7):c.1581dup (p.Lys528Ter)
|
rs1678292762
|
|
NM_021815.5(SLC5A7):c.1601A>G (p.Asn534Ser)
|
rs1678293099
|
|
NM_021815.5(SLC5A7):c.1607A>G (p.Asn536Ser)
|
|
|
NM_021815.5(SLC5A7):c.1610T>C (p.Ile537Thr)
|
rs1157492588
|
|
NM_021815.5(SLC5A7):c.1637A>G (p.Lys546Arg)
|
|
|
NM_021815.5(SLC5A7):c.1649G>A (p.Ser550Asn)
|
|
|
NM_021815.5(SLC5A7):c.1670T>C (p.Phe557Ser)
|
rs1558873189
|
|
NM_021815.5(SLC5A7):c.1672A>T (p.Thr558Ser)
|
|
|
NM_021815.5(SLC5A7):c.1673C>G (p.Thr558Ser)
|
rs747026995
|
|
NM_021815.5(SLC5A7):c.1676A>G (p.Asn559Ser)
|
|
|
NM_021815.5(SLC5A7):c.1685C>A (p.Ala562Asp)
|
|
|
NM_021815.5(SLC5A7):c.1685C>G (p.Ala562Gly)
|
rs776388070
|
|
NM_021815.5(SLC5A7):c.1690C>G (p.Leu564Val)
|
rs1553460067
|
|
NM_021815.5(SLC5A7):c.1697T>C (p.Val566Ala)
|
rs202227094
|
|
NM_021815.5(SLC5A7):c.1699G>T (p.Asp567Tyr)
|
rs1573619033
|
|
NM_021815.5(SLC5A7):c.1703C>G (p.Ser568Cys)
|
|
|
NM_021815.5(SLC5A7):c.1708_*45delinsATCAACCAGAACC (p.Pro570fs)
|
|
|
NM_021815.5(SLC5A7):c.1721G>T (p.Gly574Val)
|
rs1222691698
|
|
NM_021815.5(SLC5A7):c.1726G>A (p.Glu576Lys)
|
rs763725923
|
|
NM_021815.5(SLC5A7):c.175A>T (p.Thr59Ser)
|
|
|
NM_021815.5(SLC5A7):c.177A>G (p.Thr59=)
|
rs1553457528
|
|
NM_021815.5(SLC5A7):c.178+4C>G
|
|
|
NM_021815.5(SLC5A7):c.178+6T>C
|
rs1553457530
|
|
NM_021815.5(SLC5A7):c.179-2A>G
|
rs2104340311
|
|
NM_021815.5(SLC5A7):c.194G>A (p.Gly65Glu)
|
rs886039765
|
|
NM_021815.5(SLC5A7):c.19G>C (p.Gly7Arg)
|
rs753442687
|
|
NM_021815.5(SLC5A7):c.229G>A (p.Val77Ile)
|
|
|
NM_021815.5(SLC5A7):c.230T>A (p.Val77Glu)
|
rs1573592052
|
|
NM_021815.5(SLC5A7):c.236G>T (p.Gly79Val)
|
rs1177599655
|
|
NM_021815.5(SLC5A7):c.260C>T (p.Ala87Val)
|
rs1558859918
|
|
NM_021815.5(SLC5A7):c.266T>C (p.Ile89Thr)
|
|
|
NM_021815.5(SLC5A7):c.26T>C (p.Ile9Thr)
|
rs543338077
|
|
NM_021815.5(SLC5A7):c.275C>T (p.Ser92Phe)
|
rs60964124
|
|
NM_021815.5(SLC5A7):c.277C>A (p.Leu93Ile)
|
rs1172822464
|
|
NM_021815.5(SLC5A7):c.278T>G (p.Leu93Arg)
|
|
|
NM_021815.5(SLC5A7):c.292+1G>A
|
rs1677478183
|
|
NM_021815.5(SLC5A7):c.292+5G>C
|
|
|
NM_021815.5(SLC5A7):c.313C>T (p.Pro105Ser)
|
rs886039766
|
|
NM_021815.5(SLC5A7):c.320G>A (p.Arg107His)
|
|
|
NM_021815.5(SLC5A7):c.364dup (p.Tyr122fs)
|
rs2104342591
|
|
NM_021815.5(SLC5A7):c.376A>G (p.Met126Val)
|
rs371931981
|
|
NM_021815.5(SLC5A7):c.377T>C (p.Met126Thr)
|
|
|
NM_021815.5(SLC5A7):c.378G>A (p.Met126Ile)
|
rs1336840043
|
|
NM_021815.5(SLC5A7):c.37G>A (p.Val13Met)
|
rs1677319788
|
|
NM_021815.5(SLC5A7):c.401C>T (p.Ala134Val)
|
|
|
NM_021815.5(SLC5A7):c.406A>G (p.Met136Val)
|
|
|
NM_021815.5(SLC5A7):c.419T>G (p.Phe140Cys)
|
rs1558860651
|
|
NM_021815.5(SLC5A7):c.427G>A (p.Ala143Thr)
|
rs1558860658
|
|
NM_021815.5(SLC5A7):c.428C>A (p.Ala143Glu)
|
rs1677517934
|
|
NM_021815.5(SLC5A7):c.42C>A (p.Phe14Leu)
|
rs1558857378
|
|
NM_021815.5(SLC5A7):c.448+6G>A
|
|
|
NM_021815.5(SLC5A7):c.451G>A (p.Ala151Thr)
|
rs1677727536
|
|
NM_021815.5(SLC5A7):c.463G>C (p.Val155Leu)
|
|
|
NM_021815.5(SLC5A7):c.466A>G (p.Ile156Val)
|
|
|
NM_021815.5(SLC5A7):c.46C>A (p.Leu16Ile)
|
|
|
NM_021815.5(SLC5A7):c.46C>G (p.Leu16Val)
|
rs143876748
|
|
NM_021815.5(SLC5A7):c.472G>C (p.Asp158His)
|
|
|
NM_021815.5(SLC5A7):c.499A>T (p.Ile167Phe)
|
|
|
NM_021815.5(SLC5A7):c.502T>C (p.Ser168Pro)
|
|
|
NM_021815.5(SLC5A7):c.517A>T (p.Thr173Ser)
|
rs2104354270
|
|
NM_021815.5(SLC5A7):c.518C>A (p.Thr173Asn)
|
rs746514670
|
|
NM_021815.5(SLC5A7):c.518C>T (p.Thr173Ile)
|
rs746514670
|
|
NM_021815.5(SLC5A7):c.529C>A (p.Leu177Met)
|
rs2104354340
|
|
NM_021815.5(SLC5A7):c.532G>A (p.Val178Met)
|
|
|
NM_021815.5(SLC5A7):c.568G>C (p.Val190Leu)
|
rs541031936
|
|
NM_021815.5(SLC5A7):c.572A>G (p.Gln191Arg)
|
|
|
NM_021815.5(SLC5A7):c.577T>G (p.Phe193Val)
|
|
|
NM_021815.5(SLC5A7):c.583A>G (p.Ile195Val)
|
rs776668635
|
|
NM_021815.5(SLC5A7):c.598-12T>C
|
|
|
NM_021815.5(SLC5A7):c.598T>C (p.Trp200Arg)
|
|
|
NM_021815.5(SLC5A7):c.603C>G (p.Ile201Met)
|
|
|
NM_021815.5(SLC5A7):c.607G>A (p.Val203Ile)
|
|
|
NM_021815.5(SLC5A7):c.607G>C (p.Val203Leu)
|
|
|
NM_021815.5(SLC5A7):c.625C>T (p.His209Tyr)
|
rs763744412
|
|
NM_021815.5(SLC5A7):c.649T>A (p.Phe217Ile)
|
|
|
NM_021815.5(SLC5A7):c.656C>T (p.Ala219Val)
|
rs2104364447
|
|
NM_021815.5(SLC5A7):c.663T>A (p.His221Gln)
|
rs2104364491
|
|
NM_021815.5(SLC5A7):c.679C>T (p.Pro227Ser)
|
rs1035258430
|
|
NM_021815.5(SLC5A7):c.682T>A (p.Trp228Arg)
|
rs1677927136
|
|
NM_021815.5(SLC5A7):c.703T>G (p.Ser235Ala)
|
rs1677928025
|
|
NM_021815.5(SLC5A7):c.729T>G (p.Ser243Arg)
|
|
|
NM_021815.5(SLC5A7):c.737T>C (p.Leu246Ser)
|
|
|
NM_021815.5(SLC5A7):c.742-3C>T
|
rs995989817
|
|
NM_021815.5(SLC5A7):c.742A>T (p.Met248Leu)
|
|
|
NM_021815.5(SLC5A7):c.74C>T (p.Ala25Val)
|
rs2104332660
|
|
NM_021815.5(SLC5A7):c.772T>C (p.Phe258Leu)
|
|
|
NM_021815.5(SLC5A7):c.779G>T (p.Arg260Met)
|
rs1678107773
|
|
NM_021815.5(SLC5A7):c.788C>G (p.Ser263Cys)
|
rs1259002559
|
|
NM_021815.5(SLC5A7):c.797C>T (p.Ser266Leu)
|
|
|
NM_021815.5(SLC5A7):c.800C>T (p.Ala267Val)
|
rs761583647
|
|
NM_021815.5(SLC5A7):c.806A>G (p.Tyr269Cys)
|
|
|
NM_021815.5(SLC5A7):c.815T>C (p.Val272Ala)
|
rs772699592
|
|
NM_021815.5(SLC5A7):c.81G>A (p.Trp27Ter)
|
rs1677321281
|
|
NM_021815.5(SLC5A7):c.827T>C (p.Leu276Pro)
|
rs2104373588
|
|
NM_021815.5(SLC5A7):c.862G>C (p.Ala288Pro)
|
|
|
NM_021815.5(SLC5A7):c.877G>A (p.Ala293Thr)
|
rs2104373775
|
|
NM_021815.5(SLC5A7):c.878C>T (p.Ala293Val)
|
rs1553459529
|
|
NM_021815.5(SLC5A7):c.880A>G (p.Ile294Val)
|
|
|
NM_021815.5(SLC5A7):c.895+1G>C
|
rs1678115852
|
|
NM_021815.5(SLC5A7):c.895+4A>G
|
|
|
NM_021815.5(SLC5A7):c.8T>C (p.Phe3Ser)
|
|
|
NM_021815.5(SLC5A7):c.919C>T (p.Leu307Phe)
|
|
|
NM_021815.5(SLC5A7):c.931A>C (p.Lys311Gln)
|
rs1307429820
|
|
NM_021815.5(SLC5A7):c.949G>T (p.Asp317Tyr)
|
rs1678201892
|
|
NM_021815.5(SLC5A7):c.952A>G (p.Met318Val)
|
rs1678202004
|
|
NM_021815.5(SLC5A7):c.95G>A (p.Ser32Asn)
|
|
|
NM_021815.5(SLC5A7):c.964A>G (p.Ile322Val)
|
|
|
NM_033087.4(ALG2):c.1005G>A (p.Met335Ile)
|
|
|
NM_033087.4(ALG2):c.1014G>C (p.Gln338His)
|
|
|
NM_033087.4(ALG2):c.1014G>T (p.Gln338His)
|
rs2118998218
|
|
NM_033087.4(ALG2):c.1025T>C (p.Ile342Thr)
|
rs2118998170
|
|
NM_033087.4(ALG2):c.1030G>C (p.Val344Leu)
|
rs1588618702
|
|
NM_033087.4(ALG2):c.1055_1056delinsTGA (p.Ser352fs)
|
rs1554707637
|
|
NM_033087.4(ALG2):c.1133G>A (p.Arg378His)
|
|
|
NM_033087.4(ALG2):c.1140_1141inv (p.Ser381Thr)
|
|
|
NM_033087.4(ALG2):c.1150G>A (p.Ala384Thr)
|
rs1828724423
|
|
NM_033087.4(ALG2):c.1153A>G (p.Thr385Ala)
|
rs1340353164
|
|
NM_033087.4(ALG2):c.1156_1162del (p.Met386fs)
|
rs2118997596
|
|
NM_033087.4(ALG2):c.1180G>C (p.Val394Leu)
|
|
|
NM_033087.4(ALG2):c.1230T>A (p.Tyr410Ter)
|
rs372356780
|
|
NM_033087.4(ALG2):c.1235C>A (p.Thr412Asn)
|
|
|
NM_033087.4(ALG2):c.132del (p.Cys45fs)
|
|
|
NM_033087.4(ALG2):c.145A>G (p.Ile49Val)
|
rs759980920
|
|
NM_033087.4(ALG2):c.147C>G (p.Ile49Met)
|
|
|
NM_033087.4(ALG2):c.162C>A (p.Tyr54Ter)
|
rs748281785
|
|
NM_033087.4(ALG2):c.16G>C (p.Gly6Arg)
|
rs773062290
|
|
NM_033087.4(ALG2):c.179T>A (p.Phe60Tyr)
|
|
|
NM_033087.4(ALG2):c.179T>G (p.Phe60Cys)
|
rs753517894
|
|
NM_033087.4(ALG2):c.17G>T (p.Gly6Val)
|
rs180849348
|
|
NM_033087.4(ALG2):c.180C>A (p.Phe60Leu)
|
rs777441526
|
|
NM_033087.4(ALG2):c.182C>T (p.Ala61Val)
|
rs1588620643
|
|
NM_033087.4(ALG2):c.212C>G (p.Ala71Gly)
|
rs551744220
|
|
NM_033087.4(ALG2):c.212C>T (p.Ala71Val)
|
rs551744220
|
|
NM_033087.4(ALG2):c.214G>A (p.Gly72Arg)
|
rs745813432
|
|
NM_033087.4(ALG2):c.215G>T (p.Gly72Val)
|
rs770738799
|
|
NM_033087.4(ALG2):c.217G>T (p.Asp73Tyr)
|
rs375634924
|
|
NM_033087.4(ALG2):c.235C>G (p.Leu79Val)
|
|
|
NM_033087.4(ALG2):c.236T>C (p.Leu79Pro)
|
rs1564222174
|
|
NM_033087.4(ALG2):c.243_251dup (p.Gly85_Ala86insGlyArgGly)
|
|
|
NM_033087.4(ALG2):c.251GCG[3] (p.Gly85dup)
|
rs1050763044
|
|
NM_033087.4(ALG2):c.257CCG[3] (p.Ala87dup)
|
rs759891618
|
|
NM_033087.4(ALG2):c.282G>A (p.Met94Ile)
|
|
|
NM_033087.4(ALG2):c.283G>A (p.Val95Ile)
|
|
|
NM_033087.4(ALG2):c.28G>A (p.Asp10Asn)
|
rs769169852
|
|
NM_033087.4(ALG2):c.308del (p.Phe103fs)
|
|
|
NM_033087.4(ALG2):c.314C>G (p.Ala105Gly)
|
rs747781559
|
|
NM_033087.4(ALG2):c.316G>A (p.Asp106Asn)
|
|
|
NM_033087.4(ALG2):c.328G>C (p.Asp110His)
|
|
|
NM_033087.4(ALG2):c.32C>T (p.Ser11Leu)
|
rs2119008980
|
|
NM_033087.4(ALG2):c.337G>A (p.Val113Met)
|
|
|
NM_033087.4(ALG2):c.347A>G (p.Gln116Arg)
|
rs2119007195
|
|
NM_033087.4(ALG2):c.34G>C (p.Val12Leu)
|
|
|
NM_033087.4(ALG2):c.359G>A (p.Cys120Tyr)
|
|
|
NM_033087.4(ALG2):c.367G>A (p.Val123Met)
|
rs1828745406
|
|
NM_033087.4(ALG2):c.382A>G (p.Arg128Gly)
|
|
|
NM_033087.4(ALG2):c.385CGG[1] (p.Arg130del)
|
|
|
NM_033087.4(ALG2):c.3G>A (p.Met1Ile)
|
|
|
NM_033087.4(ALG2):c.442_443del (p.Asp148fs)
|
rs1828743411
|
|
NM_033087.4(ALG2):c.446C>A (p.Ser149Tyr)
|
rs1350412580
|
|
NM_033087.4(ALG2):c.44C>A (p.Pro15Gln)
|
rs757920586
|
|
NM_033087.4(ALG2):c.452T>C (p.Leu151Pro)
|
|
|
NM_033087.4(ALG2):c.489G>T (p.Glu163Asp)
|
rs1486842886
|
|
NM_033087.4(ALG2):c.496A>G (p.Thr166Ala)
|
rs1588619067
|
|
NM_033087.4(ALG2):c.507G>A (p.Met169Ile)
|
rs779723777
|
|
NM_033087.4(ALG2):c.516C>A (p.Cys172Ter)
|
rs1828741342
|
|
NM_033087.4(ALG2):c.519C>G (p.Ile173Met)
|
rs1372608210
|
|
NM_033087.4(ALG2):c.550T>C (p.Phe184Leu)
|
|
|
NM_033087.4(ALG2):c.560C>T (p.Thr187Ile)
|
|
|
NM_033087.4(ALG2):c.578A>G (p.His193Arg)
|
rs749336918
|
|
NM_033087.4(ALG2):c.590A>G (p.Asp197Gly)
|
|
|
NM_033087.4(ALG2):c.599A>C (p.Tyr200Ser)
|
rs201271253
|
|
NM_033087.4(ALG2):c.5C>T (p.Ala2Val)
|
|
|
NM_033087.4(ALG2):c.638dup (p.Pro213_Glu214insTer)
|
rs745635377
|
|
NM_033087.4(ALG2):c.676T>A (p.Phe226Ile)
|
rs1828737709
|
|
NM_033087.4(ALG2):c.678C>G (p.Phe226Leu)
|
rs866855594
|
|
NM_033087.4(ALG2):c.679C>A (p.Leu227Met)
|
rs1308983324
|
|
NM_033087.4(ALG2):c.679C>G (p.Leu227Val)
|
rs1308983324
|
|
NM_033087.4(ALG2):c.686T>A (p.Leu229His)
|
rs1828737491
|
|
NM_033087.4(ALG2):c.691A>G (p.Ile231Val)
|
|
|
NM_033087.4(ALG2):c.733G>A (p.Glu245Lys)
|
rs777262456
|
|
NM_033087.4(ALG2):c.746A>G (p.Gln249Arg)
|
|
|
NM_033087.4(ALG2):c.750_751delinsTT (p.Arg251Cys)
|
|
|
NM_033087.4(ALG2):c.760T>G (p.Leu254Val)
|
rs62562374
|
|
NM_033087.4(ALG2):c.795C>G (p.Ile265Met)
|
rs183416022
|
|
NM_033087.4(ALG2):c.814G>A (p.Glu272Lys)
|
|
|
NM_033087.4(ALG2):c.839A>G (p.His280Arg)
|
rs2118998777
|
|
NM_033087.4(ALG2):c.841T>C (p.Tyr281His)
|
|
|
NM_033087.4(ALG2):c.89_114del (p.Glu30fs)
|
rs775204090
|
|
NM_033087.4(ALG2):c.921_922del (p.Lys308fs)
|
|
|
NM_033087.4(ALG2):c.929C>A (p.Ser310Tyr)
|
|
|
NM_033087.4(ALG2):c.935T>A (p.Leu312His)
|
|
|
NM_033087.4(ALG2):c.945C>T (p.Cys315=)
|
rs1828729293
|
|
NM_033087.4(ALG2):c.949T>C (p.Cys317Arg)
|
|
|
NM_033087.4(ALG2):c.959A>G (p.Tyr320Cys)
|
rs1828728819
|
|
NM_033087.4(ALG2):c.962C>A (p.Thr321Lys)
|
rs2118998416
|
|
NM_033087.4(ALG2):c.964C>A (p.Pro322Thr)
|
|
|
NM_033087.4(ALG2):c.971A>G (p.Asn324Ser)
|
|
|
NM_033087.4(ALG2):c.974A>G (p.Glu325Gly)
|
|
|
NM_033087.4(ALG2):c.97G>A (p.Val33Met)
|
rs774607653
|
|
NM_033087.4(ALG2):c.97G>T (p.Val33Leu)
|
|
|
NM_130811.4(SNAP25):c.103C>A (p.Leu35Met)
|
|
|
NM_130811.4(SNAP25):c.114+3A>C
|
|
|
NM_130811.4(SNAP25):c.114G>C (p.Glu38Asp)
|
rs763997141
|
|
NM_130811.4(SNAP25):c.11A>G (p.Asp4Gly)
|
rs11547861
|
|
NM_130811.4(SNAP25):c.136A>C (p.Thr46Pro)
|
rs2063842678
|
|
NM_130811.4(SNAP25):c.144_146dup (p.Val48_Met49insIle)
|
rs2063842805
|
|
NM_130811.4(SNAP25):c.176G>A (p.Arg59His)
|
|
|
NM_130811.4(SNAP25):c.219A>G (p.Glu73=)
|
|
|
NM_130811.4(SNAP25):c.22C>A (p.Arg8Ser)
|
|
|
NM_130811.4(SNAP25):c.25A>C (p.Asn9His)
|
rs2063677130
|
|
NM_130811.4(SNAP25):c.281A>G (p.Lys94Arg)
|
rs2123120986
|
|
NM_130811.4(SNAP25):c.34GAG[1] (p.Glu13del)
|
|
|
NM_130811.4(SNAP25):c.363G>A (p.Val121=)
|
|
|
NM_130811.4(SNAP25):c.371G>A (p.Arg124Gln)
|
|
|
NM_130811.4(SNAP25):c.377A>G (p.Gln126Arg)
|
rs2064127610
|
|
NM_130811.4(SNAP25):c.403C>T (p.Arg135Cys)
|
|
|
NM_130811.4(SNAP25):c.407+3G>A
|
rs1871070779
|
|
NM_130811.4(SNAP25):c.425G>A (p.Arg142Gln)
|
rs2064181232
|
|
NM_130811.4(SNAP25):c.437T>A (p.Met146Lys)
|
|
|
NM_130811.4(SNAP25):c.469A>G (p.Ile157Val)
|
|
|
NM_130811.4(SNAP25):c.47G>A (p.Arg16Gln)
|
rs760339630
|
|
NM_130811.4(SNAP25):c.487A>G (p.Met163Val)
|
rs2123159174
|
|
NM_130811.4(SNAP25):c.488T>G (p.Met163Arg)
|
|
|
NM_130811.4(SNAP25):c.491C>A (p.Ala164Asp)
|
|
|
NM_130811.4(SNAP25):c.4G>A (p.Ala2Thr)
|
rs769950821
|
|
NM_130811.4(SNAP25):c.503G>A (p.Gly168Asp)
|
rs1600791112
|
|
NM_130811.4(SNAP25):c.503G>T (p.Gly168Val)
|
rs1600791112
|
|
NM_130811.4(SNAP25):c.511A>G (p.Ile171Val)
|
|
|
NM_130811.4(SNAP25):c.552+6C>T
|
rs2123159776
|
|
NM_130811.4(SNAP25):c.566A>C (p.Lys189Thr)
|
|
|
NM_130811.4(SNAP25):c.568A>G (p.Thr190Ala)
|
|
|
NM_130811.4(SNAP25):c.569C>T (p.Thr190Ile)
|
rs2064354640
|
|
NM_130811.4(SNAP25):c.57C>A (p.Asp19Glu)
|
|
|
NM_130811.4(SNAP25):c.591A>C (p.Gln197His)
|
rs2064355285
|
|
NM_130811.4(SNAP25):c.592C>T (p.Arg198Cys)
|
|
|
NM_130811.4(SNAP25):c.614G>A (p.Ser205Asn)
|
|
|
NM_130811.4(SNAP25):c.69T>G (p.Asp23Glu)
|
rs1278243837
|
|
NM_130811.4(SNAP25):c.88C>T (p.Arg30Cys)
|
|
|
NM_144988.4(ALG14):c.113G>A (p.Ser38Asn)
|
rs139521179
|
|
NM_144988.4(ALG14):c.127G>C (p.Ala43Pro)
|
|
|
NM_144988.4(ALG14):c.190T>C (p.Ser64Pro)
|
|
|
NM_144988.4(ALG14):c.199C>T (p.His67Tyr)
|
|
|
NM_144988.4(ALG14):c.203A>G (p.Tyr68Cys)
|
|
|
NM_144988.4(ALG14):c.20T>C (p.Leu7Pro)
|
|
|
NM_144988.4(ALG14):c.210T>G (p.Ile70Met)
|
|
|
NM_144988.4(ALG14):c.245A>G (p.Asn82Ser)
|
rs1192311417
|
|
NM_144988.4(ALG14):c.24T>A (p.Ala8=)
|
|
|
NM_144988.4(ALG14):c.263G>A (p.Arg88Gln)
|
|
|
NM_144988.4(ALG14):c.288+4A>G
|
rs2100841130
|
|
NM_144988.4(ALG14):c.288G>T (p.Met96Ile)
|
|
|
NM_144988.4(ALG14):c.289-2A>G
|
rs1673851343
|
|
NM_144988.4(ALG14):c.313A>G (p.Ile105Val)
|
|
|
NM_144988.4(ALG14):c.323G>A (p.Ser108Asn)
|
rs1673848834
|
|
NM_144988.4(ALG14):c.337C>G (p.Gln113Glu)
|
rs1204743597
|
|
NM_144988.4(ALG14):c.342_344del (p.Trp115del)
|
rs1210554241
|
|
NM_144988.4(ALG14):c.401A>C (p.His134Pro)
|
|
|
NM_144988.4(ALG14):c.402C>A (p.His134Gln)
|
|
|
NM_144988.4(ALG14):c.420+1G>A
|
|
|
NM_144988.4(ALG14):c.420+5G>A
|
rs1571621391
|
|
NM_144988.4(ALG14):c.420+6_420+9del
|
rs1673843345
|
|
NM_144988.4(ALG14):c.451C>T (p.Pro151Ser)
|
rs2100709244
|
|
NM_144988.4(ALG14):c.464C>T (p.Ser155Phe)
|
rs2100709222
|
|
NM_144988.4(ALG14):c.478G>A (p.Gly160Arg)
|
|
|
NM_144988.4(ALG14):c.503T>G (p.Ile168Ser)
|
rs1431105428
|
|
NM_144988.4(ALG14):c.517G>T (p.Glu173Ter)
|
|
|
NM_144988.4(ALG14):c.529C>A (p.Arg177Ser)
|
rs1279524858
|
|
NM_144988.4(ALG14):c.533T>G (p.Val178Gly)
|
rs766184799
|
|
NM_144988.4(ALG14):c.549G>C (p.Met183Ile)
|
|
|
NM_144988.4(ALG14):c.551C>G (p.Ser184Cys)
|
rs2100709015
|
|
NM_144988.4(ALG14):c.599C>T (p.Pro200Leu)
|
rs1014644772
|
|
NM_144988.4(ALG14):c.619C>T (p.Pro207Ser)
|
|
|
NM_144988.4(ALG14):c.626C>T (p.Ser209Leu)
|
|
|
NM_144988.4(ALG14):c.66A>G (p.Ile22Met)
|
rs1309034063
|
|
NM_144988.4(ALG14):c.80G>T (p.Arg27Leu)
|
rs1267285963
|
|
NM_144988.4(ALG14):c.82T>C (p.Ser28Pro)
|
|
|
NM_144988.4(ALG14):c.86T>C (p.Met29Thr)
|
rs1156822888
|
|
NM_173660.5(DOK7):c.1001G>A (p.Ser334Asn)
|
rs1467473001
|
|
NM_173660.5(DOK7):c.1009G>A (p.Asp337Asn)
|
rs2109418165
|
|
NM_173660.5(DOK7):c.1016G>C (p.Gly339Ala)
|
rs1728608485
|
|
NM_173660.5(DOK7):c.1018A>G (p.Ile340Val)
|
|
|
NM_173660.5(DOK7):c.1030A>G (p.Ser344Gly)
|
rs2109418322
|
|
NM_173660.5(DOK7):c.1033C>T (p.His345Tyr)
|
|
|
NM_173660.5(DOK7):c.1034A>G (p.His345Arg)
|
rs1577182623
|
|
NM_173660.5(DOK7):c.1037C>G (p.Ser346Cys)
|
rs568530359
|
|
NM_173660.5(DOK7):c.1049G>A (p.Ser350Asn)
|
rs1728615373
|
|
NM_173660.5(DOK7):c.1050C>G (p.Ser350Arg)
|
rs2109418499
|
|
NM_173660.5(DOK7):c.1054C>G (p.Leu352Val)
|
rs1037224921
|
|
NM_173660.5(DOK7):c.1066G>C (p.Ala356Pro)
|
|
|
NM_173660.5(DOK7):c.1067C>A (p.Ala356Glu)
|
rs368512847
|
|
NM_173660.5(DOK7):c.1067C>T (p.Ala356Val)
|
rs368512847
|
|
NM_173660.5(DOK7):c.1074_1306dup (p.Gly436fs)
|
rs1560232833
|
|
NM_173660.5(DOK7):c.1083C>G (p.Asp361Glu)
|
|
|
NM_173660.5(DOK7):c.1088G>T (p.Trp363Leu)
|
rs763666945
|
|
NM_173660.5(DOK7):c.1091G>T (p.Arg364Leu)
|
rs201304841
|
|
NM_173660.5(DOK7):c.1109G>C (p.Gly370Ala)
|
rs1728624628
|
|
NM_173660.5(DOK7):c.1139C>A (p.Ala380Asp)
|
rs766061571
|
|
NM_173660.5(DOK7):c.1139C>G (p.Ala380Gly)
|
rs766061571
|
|
NM_173660.5(DOK7):c.1139C>T (p.Ala380Val)
|
rs766061571
|
|
NM_173660.5(DOK7):c.1145A>C (p.Glu382Ala)
|
rs1728631866
|
|
NM_173660.5(DOK7):c.1145_1171del (p.Glu382_Pro390del)
|
|
|
NM_173660.5(DOK7):c.1151G>A (p.Ser384Asn)
|
rs1728632467
|
|
NM_173660.5(DOK7):c.1154T>C (p.Leu385Pro)
|
rs1728632885
|
|
NM_173660.5(DOK7):c.1168C>A (p.Pro390Thr)
|
rs149525610
|
|
NM_173660.5(DOK7):c.1171G>T (p.Gly391Trp)
|
|
|
NM_173660.5(DOK7):c.1172G>A (p.Gly391Glu)
|
rs753513427
|
|
NM_173660.5(DOK7):c.1205G>C (p.Arg402Pro)
|
rs370039804
|
|
NM_173660.5(DOK7):c.1208C>G (p.Ala403Gly)
|
|
|
NM_173660.5(DOK7):c.1211A>G (p.His404Arg)
|
|
|
NM_173660.5(DOK7):c.1228A>C (p.Ser410Arg)
|
rs547633164
|
|
NM_173660.5(DOK7):c.1255A>C (p.Ser419Arg)
|
rs2109420373
|
|
NM_173660.5(DOK7):c.1258C>A (p.Pro420Thr)
|
rs150497723
|
|
NM_173660.5(DOK7):c.1258C>T (p.Pro420Ser)
|
rs150497723
|
|
NM_173660.5(DOK7):c.1262C>T (p.Pro421Leu)
|
|
|
NM_173660.5(DOK7):c.1269G>A (p.Gln423=)
|
rs1247286969
|
|
NM_173660.5(DOK7):c.1272C>T (p.Gly424=)
|
rs1728651445
|
|
NM_173660.5(DOK7):c.1277C>T (p.Pro426Leu)
|
|
|
NM_173660.5(DOK7):c.1279G>C (p.Gly427Arg)
|
rs377555406
|
|
NM_173660.5(DOK7):c.1285A>G (p.Ser429Gly)
|
|
|
NM_173660.5(DOK7):c.1289C>G (p.Ala430Gly)
|
|
|
NM_173660.5(DOK7):c.1306G>A (p.Gly436Ser)
|
rs201392182
|
|
NM_173660.5(DOK7):c.1306G>C (p.Gly436Arg)
|
rs201392182
|
|
NM_173660.5(DOK7):c.1307G>A (p.Gly436Asp)
|
rs1458938692
|
|
NM_173660.5(DOK7):c.1313C>T (p.Thr438Met)
|
rs376805794
|
|
NM_173660.5(DOK7):c.1318G>T (p.Ala440Ser)
|
rs753026831
|
|
NM_173660.5(DOK7):c.1321G>A (p.Gly441Arg)
|
rs778266118
|
|
NM_173660.5(DOK7):c.1327C>T (p.Pro443Ser)
|
rs748946433
|
|
NM_173660.5(DOK7):c.1340_1354del (p.Leu447_Arg451del)
|
rs779508279
|
|
NM_173660.5(DOK7):c.1363G>A (p.Val455Met)
|
rs765823074
|
|
NM_173660.5(DOK7):c.1368_1385del (p.Met456_Ser462delinsIle)
|
rs1728665309
|
|
NM_173660.5(DOK7):c.1371G>T (p.Glu457Asp)
|
rs1455617490
|
|
NM_173660.5(DOK7):c.1387G>C (p.Glu463Gln)
|
rs745941308
|
|
NM_173660.5(DOK7):c.138_149del (p.Glu46_Gly50delinsAsp)
|
rs1577148448
|
|
NM_173660.5(DOK7):c.139C>T (p.Arg47Cys)
|
rs781665230
|
|
NM_173660.5(DOK7):c.1403_1408del (p.Gly468_Pro469del)
|
rs762148551
|
|
NM_173660.5(DOK7):c.1403_1408dup (p.Gly468_Pro469dup)
|
rs762148551
|
|
NM_173660.5(DOK7):c.1433G>A (p.Gly478Asp)
|
rs2109422552
|
|
NM_173660.5(DOK7):c.1435G>C (p.Gly479Arg)
|
rs140519765
|
|
NM_173660.5(DOK7):c.143T>C (p.Ile48Thr)
|
|
|
NM_173660.5(DOK7):c.1444G>T (p.Ala482Ser)
|
|
|
NM_173660.5(DOK7):c.1445C>A (p.Ala482Glu)
|
rs767980190
|
|
NM_173660.5(DOK7):c.1445C>T (p.Ala482Val)
|
rs767980190
|
|
NM_173660.5(DOK7):c.1459G>A (p.Ala487Thr)
|
rs751342277
|
|
NM_173660.5(DOK7):c.1459G>C (p.Ala487Pro)
|
rs751342277
|
|
NM_173660.5(DOK7):c.1469C>G (p.Ser490Trp)
|
rs77513082
|
|
NM_173660.5(DOK7):c.1476T>G (p.Cys492Trp)
|
rs768805841
|
|
NM_173660.5(DOK7):c.1487G>C (p.Gly496Ala)
|
rs373205256
|
|
NM_173660.5(DOK7):c.1487G>T (p.Gly496Val)
|
rs373205256
|
|
NM_173660.5(DOK7):c.1489G>C (p.Gly497Arg)
|
rs751223916
|
|
NM_173660.5(DOK7):c.1497G>T (p.Lys499Asn)
|
rs1560234858
|
|
NM_173660.5(DOK7):c.1498G>A (p.Val500Ile)
|
rs1041024260
|
|
NM_173660.5(DOK7):c.1504C>T (p.Pro502Ser)
|
rs779975668
|
|
NM_173660.5(DOK7):c.1510C>A (p.Pro504Thr)
|
rs1560234920
|
|
NM_173660.5(DOK7):c.1515A>G (p.Ter505Trp)
|
rs1553850437
|
|
NM_173660.5(DOK7):c.161G>T (p.Arg54Leu)
|
rs201818140
|
|
NM_173660.5(DOK7):c.163A>T (p.Ser55Cys)
|
rs550137245
|
|
NM_173660.5(DOK7):c.173C>T (p.Thr58Met)
|
|
|
NM_173660.5(DOK7):c.176T>C (p.Leu59Pro)
|
|
|
NM_173660.5(DOK7):c.185T>A (p.Ile62Asn)
|
|
|
NM_173660.5(DOK7):c.212A>T (p.Tyr71Phe)
|
rs771583740
|
|
NM_173660.5(DOK7):c.230C>A (p.Thr77Lys)
|
rs940346413
|
|
NM_173660.5(DOK7):c.230C>G (p.Thr77Arg)
|
|
|
NM_173660.5(DOK7):c.230C>T (p.Thr77Met)
|
rs940346413
|
|
NM_173660.5(DOK7):c.241G>C (p.Val81Leu)
|
rs763046127
|
|
NM_173660.5(DOK7):c.264G>T (p.Met88Ile)
|
rs1244768842
|
|
NM_173660.5(DOK7):c.289A>G (p.Met97Val)
|
rs2109336403
|
|
NM_173660.5(DOK7):c.292T>A (p.Cys98Ser)
|
rs1726898976
|
|
NM_173660.5(DOK7):c.317A>G (p.Tyr106Cys)
|
|
|
NM_173660.5(DOK7):c.31G>C (p.Val11Leu)
|
|
|
NM_173660.5(DOK7):c.331+4_331+5del
|
rs2109336551
|
|
NM_173660.5(DOK7):c.332-18T>A
|
|
|
NM_173660.5(DOK7):c.355G>A (p.Ala119Thr)
|
rs951094929
|
|
NM_173660.5(DOK7):c.364A>T (p.Thr122Ser)
|
|
|
NM_173660.5(DOK7):c.379G>A (p.Gly127Ser)
|
|
|
NM_173660.5(DOK7):c.383C>G (p.Pro128Arg)
|
|
|
NM_173660.5(DOK7):c.394C>A (p.His132Asn)
|
rs755692930
|
|
NM_173660.5(DOK7):c.430A>T (p.Ile144Phe)
|
|
|
NM_173660.5(DOK7):c.43G>A (p.Asp15Asn)
|
rs1726072530
|
|
NM_173660.5(DOK7):c.440C>T (p.Ala147Val)
|
rs1560212754
|
|
NM_173660.5(DOK7):c.442G>T (p.Val148Phe)
|
rs2109343658
|
|
NM_173660.5(DOK7):c.445A>G (p.Thr149Ala)
|
rs759723884
|
|
NM_173660.5(DOK7):c.446C>T (p.Thr149Met)
|
|
|
NM_173660.5(DOK7):c.469C>G (p.Leu157Val)
|
rs1727097545
|
|
NM_173660.5(DOK7):c.469C>T (p.Leu157Phe)
|
|
|
NM_173660.5(DOK7):c.46G>C (p.Gly16Arg)
|
rs764824461
|
|
NM_173660.5(DOK7):c.487G>A (p.Val163Met)
|
rs746946329
|
|
NM_173660.5(DOK7):c.487G>C (p.Val163Leu)
|
|
|
NM_173660.5(DOK7):c.493A>G (p.Ser165Gly)
|
rs1470827824
|
|
NM_173660.5(DOK7):c.494G>A (p.Ser165Asn)
|
|
|
NM_173660.5(DOK7):c.518C>G (p.Thr173Ser)
|
|
|
NM_173660.5(DOK7):c.525T>G (p.Cys175Trp)
|
|
|
NM_173660.5(DOK7):c.532+4A>C
|
|
|
NM_173660.5(DOK7):c.534G>T (p.Trp178Cys)
|
rs1727716645
|
|
NM_173660.5(DOK7):c.535G>C (p.Ala179Pro)
|
rs756146556
|
|
NM_173660.5(DOK7):c.54+34C>T
|
rs751188494
|
|
NM_173660.5(DOK7):c.55-12_55-11del
|
|
|
NM_173660.5(DOK7):c.551T>C (p.Leu184Pro)
|
rs1727718542
|
|
NM_173660.5(DOK7):c.559G>C (p.Ala187Pro)
|
rs1220205278
|
|
NM_173660.5(DOK7):c.564G>C (p.Glu188Asp)
|
rs375631042
|
|
NM_173660.5(DOK7):c.565G>T (p.Gly189Trp)
|
rs1727720417
|
|
NM_173660.5(DOK7):c.583C>G (p.Leu195Val)
|
|
|
NM_173660.5(DOK7):c.588C>G (p.Phe196Leu)
|
rs149940009
|
|
NM_173660.5(DOK7):c.612_625delinsGGACGGTTCTA (p.Pro205_Pro209delinsAspGlySerThr)
|
rs1553847993
|
|
NM_173660.5(DOK7):c.619A>C (p.Lys207Gln)
|
rs1240579533
|
|
NM_173660.5(DOK7):c.625C>A (p.Pro209Thr)
|
rs759603846
|
|
NM_173660.5(DOK7):c.638G>C (p.Arg213Pro)
|
rs371408752
|
|
NM_173660.5(DOK7):c.638G>T (p.Arg213Leu)
|
rs371408752
|
|
NM_173660.5(DOK7):c.652+4C>T
|
rs374675986
|
|
NM_173660.5(DOK7):c.652G>A (p.Asp218Asn)
|
|
|
NM_173660.5(DOK7):c.653-3C>T
|
rs767745850
|
|
NM_173660.5(DOK7):c.654C>A (p.Asp218Glu)
|
rs1728055459
|
|
NM_173660.5(DOK7):c.656C>G (p.Pro219Arg)
|
|
|
NM_173660.5(DOK7):c.661C>A (p.Pro221Thr)
|
rs377167511
|
|
NM_173660.5(DOK7):c.661C>G (p.Pro221Ala)
|
|
|
NM_173660.5(DOK7):c.661C>T (p.Pro221Ser)
|
rs377167511
|
|
NM_173660.5(DOK7):c.673T>G (p.Ser225Ala)
|
|
|
NM_173660.5(DOK7):c.685G>A (p.Glu229Lys)
|
|
|
NM_173660.5(DOK7):c.686A>G (p.Glu229Gly)
|
|
|
NM_173660.5(DOK7):c.68G>T (p.Trp23Leu)
|
rs2109312461
|
|
NM_173660.5(DOK7):c.707T>G (p.Leu236Arg)
|
rs2109388893
|
|
NM_173660.5(DOK7):c.713C>T (p.Thr238Ile)
|
|
|
NM_173660.5(DOK7):c.724G>C (p.Glu242Gln)
|
|
|
NM_173660.5(DOK7):c.725A>C (p.Glu242Ala)
|
|
|
NM_173660.5(DOK7):c.727A>G (p.Lys243Glu)
|
|
|
NM_173660.5(DOK7):c.731G>A (p.Arg244Gln)
|
|
|
NM_173660.5(DOK7):c.737G>C (p.Ser246Thr)
|
rs2109389067
|
|
NM_173660.5(DOK7):c.751G>A (p.Ala251Thr)
|
|
|
NM_173660.5(DOK7):c.752C>G (p.Ala251Gly)
|
|
|
NM_173660.5(DOK7):c.752_753delinsTA (p.Ala251Val)
|
rs1577172369
|
|
NM_173660.5(DOK7):c.759_767del (p.Arg253_Gly255del)
|
rs373384998
|
|
NM_173660.5(DOK7):c.761C>G (p.Pro254Arg)
|
rs200407250
|
|
NM_173660.5(DOK7):c.761C>T (p.Pro254Leu)
|
rs200407250
|
|
NM_173660.5(DOK7):c.765C>T (p.Gly255=)
|
|
|
NM_173660.5(DOK7):c.772+4G>A
|
|
|
NM_173660.5(DOK7):c.772+6G>C
|
rs2109389412
|
|
NM_173660.5(DOK7):c.773-1G>A
|
rs1268475752
|
|
NM_173660.5(DOK7):c.773-2A>C
|
rs1229979805
|
|
NM_173660.5(DOK7):c.773-2A>T
|
rs1229979805
|
|
NM_173660.5(DOK7):c.773-8_797del
|
|
|
NM_173660.5(DOK7):c.776A>C (p.Asp259Ala)
|
|
|
NM_173660.5(DOK7):c.7G>A (p.Glu3Lys)
|
rs763233743
|
|
NM_173660.5(DOK7):c.805G>C (p.Glu269Gln)
|
|
|
NM_173660.5(DOK7):c.814C>T (p.His272Tyr)
|
rs1226413438
|
|
NM_173660.5(DOK7):c.821A>C (p.Asp274Ala)
|
rs1372127333
|
|
NM_173660.5(DOK7):c.856G>A (p.Glu286Lys)
|
rs1577181909
|
|
NM_173660.5(DOK7):c.856G>C (p.Glu286Gln)
|
rs1577181909
|
|
NM_173660.5(DOK7):c.85C>G (p.Pro29Ala)
|
|
|
NM_173660.5(DOK7):c.867GTC[1] (p.Ser291del)
|
rs749831515
|
|
NM_173660.5(DOK7):c.868T>G (p.Ser290Ala)
|
|
|
NM_173660.5(DOK7):c.869C>T (p.Ser290Leu)
|
|
|
NM_173660.5(DOK7):c.875C>T (p.Ala292Val)
|
rs761676338
|
|
NM_173660.5(DOK7):c.881C>A (p.Thr294Lys)
|
rs151079259
|
|
NM_173660.5(DOK7):c.881C>T (p.Thr294Met)
|
|
|
NM_173660.5(DOK7):c.886_887inv (p.Gln296Trp)
|
|
|
NM_173660.5(DOK7):c.887A>T (p.Gln296Leu)
|
rs6811423
|
|
NM_173660.5(DOK7):c.889G>A (p.Glu297Lys)
|
rs1728590424
|
|
NM_173660.5(DOK7):c.893G>A (p.Gly298Glu)
|
rs1553850025
|
|
NM_173660.5(DOK7):c.919G>C (p.Ala307Pro)
|
rs150415034
|
|
NM_173660.5(DOK7):c.937G>A (p.Gly313Ser)
|
rs1313698372
|
|
NM_173660.5(DOK7):c.94G>C (p.Val32Leu)
|
|
|
NM_173660.5(DOK7):c.956C>G (p.Pro319Arg)
|
rs376334067
|
|
NM_173660.5(DOK7):c.97G>A (p.Ala33Thr)
|
rs1425852835
|
|
NM_173660.5(DOK7):c.983A>G (p.Gln328Arg)
|
rs752168445
|
|
NM_173660.5(DOK7):c.987G>C (p.Glu329Asp)
|
|
|
NM_173660.5(DOK7):c.98C>T (p.Ala33Val)
|
|
|
NM_198576.4(AGRN):c.1016G>A (p.Arg339His)
|
|
|
NM_198576.4(AGRN):c.1016G>T (p.Arg339Leu)
|
rs1438592464
|
|
NM_198576.4(AGRN):c.1019C>G (p.Pro340Arg)
|
|
|
NM_198576.4(AGRN):c.1019C>T (p.Pro340Leu)
|
|
|
NM_198576.4(AGRN):c.1026G>C (p.Met342Ile)
|
rs751462657
|
|
NM_198576.4(AGRN):c.1028T>C (p.Leu343Pro)
|
|
|
NM_198576.4(AGRN):c.1054C>G (p.Arg352Gly)
|
rs149868381
|
|
NM_198576.4(AGRN):c.1060G>A (p.Ala354Thr)
|
|
|
NM_198576.4(AGRN):c.1061C>A (p.Ala354Glu)
|
|
|
NM_198576.4(AGRN):c.1061C>G (p.Ala354Gly)
|
|
|
NM_198576.4(AGRN):c.1064C>T (p.Pro355Leu)
|
rs2100635172
|
|
NM_198576.4(AGRN):c.1066G>T (p.Val356Leu)
|
|
|
NM_198576.4(AGRN):c.1075G>A (p.Asp359Asn)
|
|
|
NM_198576.4(AGRN):c.1080C>A (p.Asp360Glu)
|
rs750165361
|
|
NM_198576.4(AGRN):c.1099G>A (p.Asp367Asn)
|
rs1417668906
|
|
NM_198576.4(AGRN):c.1105G>A (p.Val369Ile)
|
rs2100635437
|
|
NM_198576.4(AGRN):c.1123G>A (p.Ala375Thr)
|
|
|
NM_198576.4(AGRN):c.1130G>A (p.Arg377Gln)
|
rs1553174827
|
|
NM_198576.4(AGRN):c.1143_1144delinsAA (p.Gln382Lys)
|
rs2100635728
|
|
NM_198576.4(AGRN):c.1144C>A (p.Gln382Lys)
|
rs1557701584
|
|
NM_198576.4(AGRN):c.1145A>G (p.Gln382Arg)
|
rs1553174830
|
|
NM_198576.4(AGRN):c.1157C>T (p.Ser386Phe)
|
rs28450113
|
|
NM_198576.4(AGRN):c.1172G>A (p.Gly391Asp)
|
rs747578197
|
|
NM_198576.4(AGRN):c.1182G>T (p.Gln394His)
|
rs1343857691
|
|
NM_198576.4(AGRN):c.1187C>A (p.Pro396Gln)
|
rs374230348
|
|
NM_198576.4(AGRN):c.1190A>G (p.Glu397Gly)
|
|
|
NM_198576.4(AGRN):c.1192C>A (p.Pro398Thr)
|
rs138165746
|
|
NM_198576.4(AGRN):c.1231C>T (p.Arg411Cys)
|
|
|
NM_198576.4(AGRN):c.1235C>A (p.Pro412His)
|
rs912828963
|
|
NM_198576.4(AGRN):c.1237C>T (p.Arg413Cys)
|
|
|
NM_198576.4(AGRN):c.1250A>G (p.Asp417Gly)
|
|
|
NM_198576.4(AGRN):c.1264G>A (p.Asp422Asn)
|
rs1644958223
|
|
NM_198576.4(AGRN):c.1294G>A (p.Asp432Asn)
|
|
|
NM_198576.4(AGRN):c.1298G>C (p.Gly433Ala)
|
|
|
NM_198576.4(AGRN):c.1301G>A (p.Arg434His)
|
|
|
NM_198576.4(AGRN):c.1321T>C (p.Trp441Arg)
|
rs746008311
|
|
NM_198576.4(AGRN):c.1331A>G (p.Gln444Arg)
|
|
|
NM_198576.4(AGRN):c.1333_1350dup (p.Gln450_Arg451insAlaGluCysArgGlnGln)
|
|
|
NM_198576.4(AGRN):c.1351C>T (p.Arg451Cys)
|
rs974149667
|
|
NM_198576.4(AGRN):c.1372C>G (p.Gln458Glu)
|
|
|
NM_198576.4(AGRN):c.1384+3G>A
|
rs1644962420
|
|
NM_198576.4(AGRN):c.1386C>G (p.Asp462Glu)
|
|
|
NM_198576.4(AGRN):c.1400C>T (p.Pro467Leu)
|
|
|
NM_198576.4(AGRN):c.1408G>A (p.Gly470Arg)
|
|
|
NM_198576.4(AGRN):c.1408G>T (p.Gly470Trp)
|
|
|
NM_198576.4(AGRN):c.1419T>G (p.Cys473Trp)
|
|
|
NM_198576.4(AGRN):c.1430C>T (p.Ala477Val)
|
|
|
NM_198576.4(AGRN):c.1433C>T (p.Thr478Met)
|
|
|
NM_198576.4(AGRN):c.1457C>T (p.Ala486Val)
|
rs1644996879
|
|
NM_198576.4(AGRN):c.1460C>A (p.Ala487Glu)
|
rs139302553
|
|
NM_198576.4(AGRN):c.1478C>T (p.Ala493Val)
|
|
|
NM_198576.4(AGRN):c.1493A>G (p.Tyr498Cys)
|
|
|
NM_198576.4(AGRN):c.1495G>T (p.Asp499Tyr)
|
rs778233185
|
|
NM_198576.4(AGRN):c.1533C>G (p.Ser511Arg)
|
rs778447033
|
|
NM_198576.4(AGRN):c.1538G>A (p.Cys513Tyr)
|
|
|
NM_198576.4(AGRN):c.1543C>G (p.Leu515Val)
|
rs1007639697
|
|
NM_198576.4(AGRN):c.1562C>T (p.Thr521Ile)
|
rs763120539
|
|
NM_198576.4(AGRN):c.1589G>T (p.Arg530Leu)
|
rs139590454
|
|
NM_198576.4(AGRN):c.1603+3C>T
|
|
|
NM_198576.4(AGRN):c.1604-6C>T
|
rs1432022848
|
|
NM_198576.4(AGRN):c.1612G>T (p.Gly538Trp)
|
rs558214372
|
|
NM_198576.4(AGRN):c.1621C>T (p.Arg541Cys)
|
|
|
NM_198576.4(AGRN):c.1639G>A (p.Glu547Lys)
|
|
|
NM_198576.4(AGRN):c.1652G>A (p.Gly551Glu)
|
|
|
NM_198576.4(AGRN):c.1659C>G (p.Cys553Trp)
|
rs541915367
|
|
NM_198576.4(AGRN):c.1665C>G (p.Cys555Trp)
|
|
|
NM_198576.4(AGRN):c.1666C>T (p.Pro556Ser)
|
rs768688446
|
|
NM_198576.4(AGRN):c.1711G>A (p.Gly571Arg)
|
|
|
NM_198576.4(AGRN):c.1732T>A (p.Cys578Ser)
|
rs1324176773
|
|
NM_198576.4(AGRN):c.1743C>G (p.His581Gln)
|
rs201239522
|
|
NM_198576.4(AGRN):c.1765A>G (p.Ile589Val)
|
rs1333774861
|
|
NM_198576.4(AGRN):c.1783_1784delinsCT (p.Ser595Leu)
|
rs1645011212
|
|
NM_198576.4(AGRN):c.1789G>A (p.Gly597Arg)
|
|
|
NM_198576.4(AGRN):c.1792C>T (p.Pro598Ser)
|
|
|
NM_198576.4(AGRN):c.1816G>A (p.Val606Met)
|
rs747982009
|
|
NM_198576.4(AGRN):c.1826T>C (p.Phe609Ser)
|
rs1246417325
|
|
NM_198576.4(AGRN):c.1843G>T (p.Ala615Ser)
|
rs762357955
|
|
NM_198576.4(AGRN):c.1856T>C (p.Val619Ala)
|
rs1320843935
|
|
NM_198576.4(AGRN):c.1873C>T (p.His625Tyr)
|
rs1487673393
|
|
NM_198576.4(AGRN):c.1879C>G (p.Pro627Ala)
|
rs1180781232
|
|
NM_198576.4(AGRN):c.1879C>T (p.Pro627Ser)
|
rs1180781232
|
|
NM_198576.4(AGRN):c.1885G>A (p.Gly629Ser)
|
|
|
NM_198576.4(AGRN):c.1903G>A (p.Asp635Asn)
|
|
|
NM_198576.4(AGRN):c.1906G>C (p.Gly636Arg)
|
|
|
NM_198576.4(AGRN):c.1906_1911del (p.Gly636_Val637del)
|
|
|
NM_198576.4(AGRN):c.1951C>G (p.Leu651Val)
|
rs754639566
|
|
NM_198576.4(AGRN):c.1961C>T (p.Thr654Ile)
|
|
|
NM_198576.4(AGRN):c.1972G>A (p.Glu658Lys)
|
|
|
NM_198576.4(AGRN):c.1979G>A (p.Arg660Gln)
|
rs370983524
|
|
NM_198576.4(AGRN):c.1979G>T (p.Arg660Leu)
|
rs370983524
|
|
NM_198576.4(AGRN):c.1999+4G>A
|
rs55852615
|
|
NM_198576.4(AGRN):c.2000-3C>T
|
|
|
NM_198576.4(AGRN):c.2000-5C>G
|
rs757769063
|
|
NM_198576.4(AGRN):c.2042A>G (p.Asp681Gly)
|
rs1645026070
|
|
NM_198576.4(AGRN):c.2048A>C (p.Glu683Ala)
|
|
|
NM_198576.4(AGRN):c.2068C>T (p.Arg690Cys)
|
rs1645026919
|
|
NM_198576.4(AGRN):c.2083G>C (p.Asp695His)
|
|
|
NM_198576.4(AGRN):c.2086G>C (p.Glu696Gln)
|
rs143010947
|
|
NM_198576.4(AGRN):c.2089G>A (p.Asp697Asn)
|
rs148201851
|
|
NM_198576.4(AGRN):c.2098G>A (p.Asp700Asn)
|
rs1246526127
|
|
NM_198576.4(AGRN):c.20C>G (p.Pro7Arg)
|
rs1389840850
|
|
NM_198576.4(AGRN):c.20C>T (p.Pro7Leu)
|
rs1389840850
|
|
NM_198576.4(AGRN):c.2105C>A (p.Pro702Gln)
|
rs149814455
|
|
NM_198576.4(AGRN):c.2105C>T (p.Pro702Leu)
|
rs149814455
|
|
NM_198576.4(AGRN):c.2159C>T (p.Ser720Leu)
|
rs2100649359
|
|
NM_198576.4(AGRN):c.2197_2198delinsGC (p.Lys733Ala)
|
rs2100649601
|
|
NM_198576.4(AGRN):c.2222G>T (p.Gly741Val)
|
|
|
NM_198576.4(AGRN):c.2225T>C (p.Leu742Pro)
|
rs2100649704
|
|
NM_198576.4(AGRN):c.2270C>A (p.Pro757Gln)
|
|
|
NM_198576.4(AGRN):c.2270C>G (p.Pro757Arg)
|
rs202172924
|
|
NM_198576.4(AGRN):c.2284G>T (p.Ala762Ser)
|
|
|
NM_198576.4(AGRN):c.2295C>G (p.His765Gln)
|
|
|
NM_198576.4(AGRN):c.2308C>T (p.Pro770Ser)
|
|
|
NM_198576.4(AGRN):c.2329A>G (p.Asn777Asp)
|
rs777783441
|
|
NM_198576.4(AGRN):c.232G>A (p.Asp78Asn)
|
rs1570131308
|
|
NM_198576.4(AGRN):c.2330A>G (p.Asn777Ser)
|
|
|
NM_198576.4(AGRN):c.2341G>A (p.Ala781Thr)
|
rs2100653148
|
|
NM_198576.4(AGRN):c.2342C>A (p.Ala781Asp)
|
rs868527594
|
|
NM_198576.4(AGRN):c.2359G>T (p.Ala787Ser)
|
rs1645058185
|
|
NM_198576.4(AGRN):c.2360C>G (p.Ala787Gly)
|
rs560842858
|
|
NM_198576.4(AGRN):c.23G>C (p.Gly8Ala)
|
|
|
NM_198576.4(AGRN):c.2444G>T (p.Arg815Leu)
|
rs755142502
|
|
NM_198576.4(AGRN):c.2482C>T (p.Pro828Ser)
|
rs773983766
|
|
NM_198576.4(AGRN):c.2486G>A (p.Gly829Asp)
|
|
|
NM_198576.4(AGRN):c.2500_2501delinsGA (p.Arg834Glu)
|
rs1645065370
|
|
NM_198576.4(AGRN):c.2509G>A (p.Val837Ile)
|
|
|
NM_198576.4(AGRN):c.2536+3G>T
|
|
|
NM_198576.4(AGRN):c.2536+4A>G
|
rs772478233
|
|
NM_198576.4(AGRN):c.2542A>G (p.Ser848Gly)
|
|
|
NM_198576.4(AGRN):c.2560G>A (p.Ala854Thr)
|
|
|
NM_198576.4(AGRN):c.2566C>G (p.Arg856Gly)
|
rs770329947
|
|
NM_198576.4(AGRN):c.2570A>G (p.Asp857Gly)
|
rs1645073077
|
|
NM_198576.4(AGRN):c.2611G>T (p.Gly871Trp)
|
|
|
NM_198576.4(AGRN):c.2637G>T (p.Gln879His)
|
rs1267005027
|
|
NM_198576.4(AGRN):c.2650C>G (p.Arg884Gly)
|
|
|
NM_198576.4(AGRN):c.2650C>T (p.Arg884Cys)
|
rs539990009
|
|
NM_198576.4(AGRN):c.2653G>A (p.Ala885Thr)
|
rs1400043784
|
|
NM_198576.4(AGRN):c.2656C>G (p.Leu886Val)
|
rs1343116368
|
|
NM_198576.4(AGRN):c.2665G>A (p.Ala889Thr)
|
|
|
NM_198576.4(AGRN):c.2666C>A (p.Ala889Glu)
|
|
|
NM_198576.4(AGRN):c.266G>T (p.Gly89Val)
|
|
|
NM_198576.4(AGRN):c.2671T>C (p.Cys891Arg)
|
|
|
NM_198576.4(AGRN):c.2684C>G (p.Ala895Gly)
|
rs1570220791
|
|
NM_198576.4(AGRN):c.2699C>G (p.Thr900Ser)
|
|
|
NM_198576.4(AGRN):c.2699C>T (p.Thr900Ile)
|
|
|
NM_198576.4(AGRN):c.269A>G (p.Asn90Ser)
|
rs1260100487
|
|
NM_198576.4(AGRN):c.2713C>G (p.Arg905Gly)
|
rs199593375
|
|
NM_198576.4(AGRN):c.2713C>T (p.Arg905Cys)
|
rs199593375
|
|
NM_198576.4(AGRN):c.2726G>C (p.Gly909Ala)
|
|
|
NM_198576.4(AGRN):c.2746T>C (p.Ser916Pro)
|
rs759245681
|
|
NM_198576.4(AGRN):c.2750G>A (p.Gly917Asp)
|
rs2100656885
|
|
NM_198576.4(AGRN):c.2789A>C (p.Glu930Ala)
|
|
|
NM_198576.4(AGRN):c.2794A>G (p.Asn932Asp)
|
|
|
NM_198576.4(AGRN):c.2824G>A (p.Val942Ile)
|
|
|
NM_198576.4(AGRN):c.2833G>A (p.Gly945Ser)
|
rs911274904
|
|
NM_198576.4(AGRN):c.2861C>T (p.Ala954Val)
|
rs2100657779
|
|
NM_198576.4(AGRN):c.2882T>A (p.Ile961Asn)
|
rs2100657894
|
|
NM_198576.4(AGRN):c.2894G>A (p.Ser965Asn)
|
rs779593673
|
|
NM_198576.4(AGRN):c.28C>A (p.Leu10Met)
|
rs1226970553
|
|
NM_198576.4(AGRN):c.2908C>G (p.Gln970Glu)
|
rs1645090139
|
|
NM_198576.4(AGRN):c.2941T>C (p.Ser981Pro)
|
rs1645095834
|
|
NM_198576.4(AGRN):c.2956G>A (p.Val986Met)
|
|
|
NM_198576.4(AGRN):c.298C>T (p.Pro100Ser)
|
rs773486550
|
|
NM_198576.4(AGRN):c.2993C>A (p.Pro998Gln)
|
|
|
NM_198576.4(AGRN):c.3001C>A (p.Pro1001Thr)
|
rs752212460
|
|
NM_198576.4(AGRN):c.3001C>G (p.Pro1001Ala)
|
|
|
NM_198576.4(AGRN):c.3001C>T (p.Pro1001Ser)
|
rs752212460
|
|
NM_198576.4(AGRN):c.3004G>C (p.Gly1002Arg)
|
rs757677789
|
|
NM_198576.4(AGRN):c.3014C>T (p.Pro1005Leu)
|
|
|
NM_198576.4(AGRN):c.3034G>C (p.Ala1012Pro)
|
|
|
NM_198576.4(AGRN):c.3046A>G (p.Thr1016Ala)
|
rs1553176512
|
|
NM_198576.4(AGRN):c.3064T>A (p.Ser1022Thr)
|
|
|
NM_198576.4(AGRN):c.3065_3066inv (p.Ser1022Leu)
|
|
|
NM_198576.4(AGRN):c.3073C>T (p.Arg1025Trp)
|
|
|
NM_198576.4(AGRN):c.3083C>G (p.Ala1028Gly)
|
rs1645101488
|
|
NM_198576.4(AGRN):c.3083_3103dup (p.Ala1028_Thr1034dup)
|
rs1205084879
|
|
NM_198576.4(AGRN):c.3087C>A (p.Ser1029Arg)
|
|
|
NM_198576.4(AGRN):c.3094A>G (p.Arg1032Gly)
|
|
|
NM_198576.4(AGRN):c.3104T>C (p.Val1035Ala)
|
rs1292494843
|
|
NM_198576.4(AGRN):c.3106_3108del (p.Trp1036del)
|
|
|
NM_198576.4(AGRN):c.3107G>T (p.Trp1036Leu)
|
|
|
NM_198576.4(AGRN):c.3112G>A (p.Val1038Met)
|
|
|
NM_198576.4(AGRN):c.3187A>G (p.Thr1063Ala)
|
|
|
NM_198576.4(AGRN):c.3194G>A (p.Gly1065Glu)
|
rs1570225219
|
|
NM_198576.4(AGRN):c.3202G>A (p.Asp1068Asn)
|
|
|
NM_198576.4(AGRN):c.3205G>A (p.Glu1069Lys)
|
|
|
NM_198576.4(AGRN):c.3217G>A (p.Gly1073Arg)
|
|
|
NM_198576.4(AGRN):c.3220G>A (p.Asp1074Asn)
|
rs1645106250
|
|
NM_198576.4(AGRN):c.3250+6C>T
|
rs1645107309
|
|
NM_198576.4(AGRN):c.3251-7T>G
|
rs1570225831
|
|
NM_198576.4(AGRN):c.3258G>T (p.Glu1086Asp)
|
|
|
NM_198576.4(AGRN):c.3264G>T (p.Leu1088Phe)
|
rs150132566
|
|
NM_198576.4(AGRN):c.3271A>G (p.Ser1091Gly)
|
|
|
NM_198576.4(AGRN):c.3272G>A (p.Ser1091Asn)
|
rs977284297
|
|
NM_198576.4(AGRN):c.3292C>A (p.Pro1098Thr)
|
rs1431057237
|
|
NM_198576.4(AGRN):c.32G>A (p.Arg11Gln)
|
|
|
NM_198576.4(AGRN):c.32_40del (p.Arg11_Leu13del)
|
|
|
NM_198576.4(AGRN):c.3316T>C (p.Tyr1106His)
|
|
|
NM_198576.4(AGRN):c.3326C>T (p.Ala1109Val)
|
|
|
NM_198576.4(AGRN):c.3328T>A (p.Leu1110Met)
|
rs1297179716
|
|
NM_198576.4(AGRN):c.3343G>A (p.Asp1115Asn)
|
rs1645113298
|
|
NM_198576.4(AGRN):c.3353C>T (p.Thr1118Met)
|
rs149159118
|
|
NM_198576.4(AGRN):c.3359C>T (p.Ser1120Leu)
|
|
|
NM_198576.4(AGRN):c.3370G>C (p.Glu1124Gln)
|
|
|
NM_198576.4(AGRN):c.3389-3C>T
|
rs1350989602
|
|
NM_198576.4(AGRN):c.3427G>A (p.Val1143Ile)
|
|
|
NM_198576.4(AGRN):c.3430G>C (p.Glu1144Gln)
|
|
|
NM_198576.4(AGRN):c.3470C>T (p.Pro1157Leu)
|
rs2100663740
|
|
NM_198576.4(AGRN):c.3473A>G (p.Lys1158Arg)
|
|
|
NM_198576.4(AGRN):c.3485T>C (p.Phe1162Ser)
|
|
|
NM_198576.4(AGRN):c.3487G>A (p.Gly1163Arg)
|
rs1390460146
|
|
NM_198576.4(AGRN):c.34C>T (p.Pro12Ser)
|
|
|
NM_198576.4(AGRN):c.3501G>T (p.Arg1167Ser)
|
|
|
NM_198576.4(AGRN):c.350T>C (p.Val117Ala)
|
rs2100563474
|
|
NM_198576.4(AGRN):c.3515C>A (p.Thr1172Asn)
|
rs375197922
|
|
NM_198576.4(AGRN):c.3517-3C>T
|
rs2100664552
|
|
NM_198576.4(AGRN):c.3523_3524delinsAG (p.Asp1175Ser)
|
rs2100664623
|
|
NM_198576.4(AGRN):c.3539C>T (p.Ser1180Leu)
|
rs1645136422
|
|
NM_198576.4(AGRN):c.3542A>G (p.Asp1181Gly)
|
rs2100664751
|
|
NM_198576.4(AGRN):c.3568C>T (p.Arg1190Cys)
|
rs766825692
|
|
NM_198576.4(AGRN):c.3569G>C (p.Arg1190Pro)
|
rs149762107
|
|
NM_198576.4(AGRN):c.3574C>T (p.Arg1192Trp)
|
rs565447598
|
|
NM_198576.4(AGRN):c.3579C>G (p.Asp1193Glu)
|
rs924458131
|
|
NM_198576.4(AGRN):c.3598G>T (p.Val1200Phe)
|
rs755901578
|
|
NM_198576.4(AGRN):c.359C>T (p.Ala120Val)
|
|
|
NM_198576.4(AGRN):c.3608T>C (p.Ile1203Thr)
|
|
|
NM_198576.4(AGRN):c.3619C>T (p.His1207Tyr)
|
rs2100665199
|
|
NM_198576.4(AGRN):c.362C>A (p.Pro121His)
|
rs533320704
|
|
NM_198576.4(AGRN):c.3638C>A (p.Ala1213Asp)
|
rs2100665678
|
|
NM_198576.4(AGRN):c.3685G>A (p.Val1229Met)
|
rs528146665
|
|
NM_198576.4(AGRN):c.3694C>A (p.Arg1232Ser)
|
rs777331097
|
|
NM_198576.4(AGRN):c.3695G>A (p.Arg1232His)
|
rs746435538
|
|
NM_198576.4(AGRN):c.3701C>T (p.Ser1234Phe)
|
rs1433503299
|
|
NM_198576.4(AGRN):c.3716G>A (p.Arg1239Gln)
|
|
|
NM_198576.4(AGRN):c.3719C>A (p.Pro1240Gln)
|
rs142620337
|
|
NM_198576.4(AGRN):c.371T>C (p.Leu124Pro)
|
rs1644425409
|
|
NM_198576.4(AGRN):c.3740T>C (p.Phe1247Ser)
|
|
|
NM_198576.4(AGRN):c.3751+6C>T
|
rs756678012
|
|
NM_198576.4(AGRN):c.3760C>T (p.Pro1254Ser)
|
rs1207410103
|
|
NM_198576.4(AGRN):c.3761C>T (p.Pro1254Leu)
|
rs2100667321
|
|
NM_198576.4(AGRN):c.3790G>T (p.Ala1264Ser)
|
|
|
NM_198576.4(AGRN):c.37C>G (p.Leu13Val)
|
rs2100555271
|
|
NM_198576.4(AGRN):c.3800C>T (p.Ala1267Val)
|
|
|
NM_198576.4(AGRN):c.3806C>A (p.Ala1269Asp)
|
|
|
NM_198576.4(AGRN):c.380C>T (p.Ala127Val)
|
rs755949709
|
|
NM_198576.4(AGRN):c.3815G>A (p.Arg1272Lys)
|
rs1570232895
|
|
NM_198576.4(AGRN):c.3816A>C (p.Arg1272Ser)
|
|
|
NM_198576.4(AGRN):c.3821C>A (p.Thr1274Asn)
|
rs1645153244
|
|
NM_198576.4(AGRN):c.3833G>T (p.Arg1278Leu)
|
rs542631667
|
|
NM_198576.4(AGRN):c.3844T>C (p.Ser1282Pro)
|
rs1557714258
|
|
NM_198576.4(AGRN):c.3865C>T (p.Pro1289Ser)
|
rs2100668078
|
|
NM_198576.4(AGRN):c.3870C>A (p.His1290Gln)
|
rs1645155187
|
|
NM_198576.4(AGRN):c.3916A>G (p.Thr1306Ala)
|
|
|
NM_198576.4(AGRN):c.3922C>G (p.Arg1308Gly)
|
|
|
NM_198576.4(AGRN):c.3923G>A (p.Arg1308His)
|
rs771823174
|
|
NM_198576.4(AGRN):c.3923G>T (p.Arg1308Leu)
|
rs771823174
|
|
NM_198576.4(AGRN):c.3965G>A (p.Arg1322Gln)
|
|
|
NM_198576.4(AGRN):c.3974C>G (p.Ala1325Gly)
|
rs745406424
|
|
NM_198576.4(AGRN):c.3980A>G (p.Gln1327Arg)
|
|
|
NM_198576.4(AGRN):c.39_47dup (p.12_14PLL[3])
|
rs1196847979
|
|
NM_198576.4(AGRN):c.4013G>T (p.Cys1338Phe)
|
|
|
NM_198576.4(AGRN):c.4021G>C (p.Gly1341Arg)
|
rs372543866
|
|
NM_198576.4(AGRN):c.403A>G (p.Asn135Asp)
|
|
|
NM_198576.4(AGRN):c.4061C>T (p.Thr1354Ile)
|
|
|
NM_198576.4(AGRN):c.4091C>T (p.Ala1364Val)
|
|
|
NM_198576.4(AGRN):c.4106-3C>T
|
rs1304973610
|
|
NM_198576.4(AGRN):c.4120G>T (p.Val1374Leu)
|
rs1057523585
|
|
NM_198576.4(AGRN):c.4131C>G (p.Phe1377Leu)
|
rs368555478
|
|
NM_198576.4(AGRN):c.4166G>A (p.Arg1389His)
|
|
|
NM_198576.4(AGRN):c.4183C>T (p.Arg1395Cys)
|
rs1015396973
|
|
NM_198576.4(AGRN):c.4200C>G (p.Phe1400Leu)
|
rs1570237178
|
|
NM_198576.4(AGRN):c.4212G>C (p.Glu1404Asp)
|
|
|
NM_198576.4(AGRN):c.421A>C (p.Ile141Leu)
|
|
|
NM_198576.4(AGRN):c.4223T>G (p.Leu1408Arg)
|
|
|
NM_198576.4(AGRN):c.422T>C (p.Ile141Thr)
|
rs2100563748
|
|
NM_198576.4(AGRN):c.4234A>G (p.Asn1412Asp)
|
rs1435842060
|
|
NM_198576.4(AGRN):c.4237G>A (p.Gly1413Ser)
|
|
|
NM_198576.4(AGRN):c.4238G>A (p.Gly1413Asp)
|
rs2100673336
|
|
NM_198576.4(AGRN):c.4244C>A (p.Ala1415Asp)
|
|
|
NM_198576.4(AGRN):c.4246C>T (p.Arg1416Trp)
|
|
|
NM_198576.4(AGRN):c.4247G>A (p.Arg1416Gln)
|
rs759552420
|
|
NM_198576.4(AGRN):c.4250G>A (p.Gly1417Asp)
|
|
|
NM_198576.4(AGRN):c.4285C>A (p.Arg1429Ser)
|
rs201346452
|
|
NM_198576.4(AGRN):c.4297A>G (p.Arg1433Gly)
|
rs1645188866
|
|
NM_198576.4(AGRN):c.4298+21_4298+22insGGGGGGAGGGGGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGG
|
|
|
NM_198576.4(AGRN):c.4298+21_4298+55dup
|
rs1156907002
|
|
NM_198576.4(AGRN):c.4310G>A (p.Gly1437Asp)
|
rs1645200273
|
|
NM_198576.4(AGRN):c.431G>A (p.Arg144Gln)
|
rs760143672
|
|
NM_198576.4(AGRN):c.4322C>T (p.Ala1441Val)
|
|
|
NM_198576.4(AGRN):c.4339G>A (p.Val1447Met)
|
rs201436229
|
|
NM_198576.4(AGRN):c.4339G>T (p.Val1447Leu)
|
|
|
NM_198576.4(AGRN):c.4348G>A (p.Glu1450Lys)
|
|
|
NM_198576.4(AGRN):c.4366C>T (p.Arg1456Cys)
|
rs749059305
|
|
NM_198576.4(AGRN):c.4379C>A (p.Ser1460Tyr)
|
rs1553177633
|
|
NM_198576.4(AGRN):c.4382G>A (p.Arg1461Gln)
|
|
|
NM_198576.4(AGRN):c.4385A>G (p.His1462Arg)
|
rs1478532829
|
|
NM_198576.4(AGRN):c.4390C>T (p.Arg1464Cys)
|
|
|
NM_198576.4(AGRN):c.4397G>C (p.Gly1466Ala)
|
rs1436879072
|
|
NM_198576.4(AGRN):c.4397G>T (p.Gly1466Val)
|
|
|
NM_198576.4(AGRN):c.4406C>G (p.Ser1469Trp)
|
rs200646795
|
|
NM_198576.4(AGRN):c.4414G>T (p.Gly1472Cys)
|
|
|
NM_198576.4(AGRN):c.4420A>T (p.Thr1474Ser)
|
|
|
NM_198576.4(AGRN):c.4423C>T (p.Pro1475Ser)
|
rs1645204517
|
|
NM_198576.4(AGRN):c.4432G>A (p.Gly1478Ser)
|
|
|
NM_198576.4(AGRN):c.4434C>T (p.Gly1478=)
|
rs372592323
|
|
NM_198576.4(AGRN):c.4450A>G (p.Thr1484Ala)
|
rs2100676449
|
|
NM_198576.4(AGRN):c.4498G>A (p.Glu1500Lys)
|
|
|
NM_198576.4(AGRN):c.44C>T (p.Pro15Leu)
|
rs764659938
|
|
NM_198576.4(AGRN):c.44_45delinsGT (p.Pro15Arg)
|
rs1553170743
|
|
NM_198576.4(AGRN):c.4507G>A (p.Ala1503Thr)
|
rs1237992098
|
|
NM_198576.4(AGRN):c.4514+12G>A
|
|
|
NM_198576.4(AGRN):c.4514+15G>A
|
|
|
NM_198576.4(AGRN):c.4525C>T (p.Arg1509Trp)
|
|
|
NM_198576.4(AGRN):c.4537G>C (p.Gly1513Arg)
|
|
|
NM_198576.4(AGRN):c.4607C>T (p.Pro1536Leu)
|
|
|
NM_198576.4(AGRN):c.4632C>T (p.Gly1544=)
|
|
|
NM_198576.4(AGRN):c.4644C>G (p.Cys1548Trp)
|
|
|
NM_198576.4(AGRN):c.4652A>G (p.His1551Arg)
|
rs377529093
|
|
NM_198576.4(AGRN):c.4681G>A (p.Gly1561Arg)
|
|
|
NM_198576.4(AGRN):c.4708G>A (p.Gly1570Arg)
|
|
|
NM_198576.4(AGRN):c.4713G>T (p.Arg1571Ser)
|
|
|
NM_198576.4(AGRN):c.4728C>G (p.Cys1576Trp)
|
rs931498089
|
|
NM_198576.4(AGRN):c.4732C>T (p.Pro1578Ser)
|
rs1645221054
|
|
NM_198576.4(AGRN):c.4739G>A (p.Arg1580His)
|
|
|
NM_198576.4(AGRN):c.4739G>T (p.Arg1580Leu)
|
rs780013869
|
|
NM_198576.4(AGRN):c.4745G>C (p.Gly1582Ala)
|
rs202069635
|
|
NM_198576.4(AGRN):c.4769G>C (p.Ser1590Thr)
|
rs1645227970
|
|
NM_198576.4(AGRN):c.4770C>A (p.Ser1590Arg)
|
|
|
NM_198576.4(AGRN):c.4779_4793dup (p.Gln1593_Cys1597dup)
|
rs769494139
|
|
NM_198576.4(AGRN):c.478C>G (p.His160Asp)
|
rs752637758
|
|
NM_198576.4(AGRN):c.4790G>C (p.Cys1597Ser)
|
rs376955370
|
|
NM_198576.4(AGRN):c.4790G>T (p.Cys1597Phe)
|
rs376955370
|
|
NM_198576.4(AGRN):c.4810C>T (p.Arg1604Cys)
|
rs201353978
|
|
NM_198576.4(AGRN):c.483C>A (p.Phe161Leu)
|
rs192831476
|
|
NM_198576.4(AGRN):c.4844G>A (p.Cys1615Tyr)
|
rs1645231004
|
|
NM_198576.4(AGRN):c.484A>G (p.Thr162Ala)
|
rs1250043774
|
|
NM_198576.4(AGRN):c.4856G>A (p.Arg1619His)
|
rs753675816
|
|
NM_198576.4(AGRN):c.4879+3C>T
|
|
|
NM_198576.4(AGRN):c.4903C>T (p.Pro1635Ser)
|
rs2100681928
|
|
NM_198576.4(AGRN):c.4915G>T (p.Asp1639Tyr)
|
|
|
NM_198576.4(AGRN):c.4921A>G (p.Asn1641Asp)
|
rs1480378637
|
|
NM_198576.4(AGRN):c.4931C>G (p.Ser1644Cys)
|
rs753103771
|
|
NM_198576.4(AGRN):c.4949G>T (p.Gly1650Val)
|
|
|
NM_198576.4(AGRN):c.4958C>T (p.Thr1653Ile)
|
rs775832705
|
|
NM_198576.4(AGRN):c.4973T>C (p.Leu1658Pro)
|
rs1645244659
|
|
NM_198576.4(AGRN):c.4976+4G>T
|
rs565518558
|
|
NM_198576.4(AGRN):c.4976+5G>C
|
rs1553177963
|
|
NM_198576.4(AGRN):c.497C>T (p.Pro166Leu)
|
|
|
NM_198576.4(AGRN):c.4987G>A (p.Ala1663Thr)
|
|
|
NM_198576.4(AGRN):c.4996G>T (p.Val1666Phe)
|
rs17160775
|
|
NM_198576.4(AGRN):c.5009C>T (p.Ala1670Val)
|
|
|
NM_198576.4(AGRN):c.5011C>G (p.Arg1671Gly)
|
|
|
NM_198576.4(AGRN):c.5015G>A (p.Gly1672Asp)
|
rs1570244934
|
|
NM_198576.4(AGRN):c.5032C>T (p.Leu1678Phe)
|
rs1479456891
|
|
NM_198576.4(AGRN):c.5038A>G (p.Asn1680Asp)
|
rs1557719897
|
|
NM_198576.4(AGRN):c.5048A>T (p.Lys1683Met)
|
|
|
NM_198576.4(AGRN):c.5050A>C (p.Thr1684Pro)
|
|
|
NM_198576.4(AGRN):c.5050_5052del (p.Thr1684del)
|
rs765397453
|
|
NM_198576.4(AGRN):c.5051C>T (p.Thr1684Met)
|
|
|
NM_198576.4(AGRN):c.5070C>G (p.Phe1690Leu)
|
|
|
NM_198576.4(AGRN):c.5086C>T (p.Arg1696Trp)
|
rs201286940
|
|
NM_198576.4(AGRN):c.5092C>A (p.Arg1698Ser)
|
|
|
NM_198576.4(AGRN):c.5092C>G (p.Arg1698Gly)
|
rs771576402
|
|
NM_198576.4(AGRN):c.5092C>T (p.Arg1698Cys)
|
|
|
NM_198576.4(AGRN):c.5107C>G (p.Arg1703Gly)
|
|
|
NM_198576.4(AGRN):c.5108G>A (p.Arg1703His)
|
rs371946683
|
|
NM_198576.4(AGRN):c.5108G>T (p.Arg1703Leu)
|
|
|
NM_198576.4(AGRN):c.5119G>A (p.Gly1707Ser)
|
|
|
NM_198576.4(AGRN):c.5120G>A (p.Gly1707Asp)
|
|
|
NM_198576.4(AGRN):c.5121C>T (p.Gly1707=)
|
rs1457021881
|
|
NM_198576.4(AGRN):c.5124G>T (p.Lys1708Asn)
|
|
|
NM_198576.4(AGRN):c.512C>T (p.Ala171Val)
|
|
|
NM_198576.4(AGRN):c.5132C>T (p.Ala1711Val)
|
|
|
NM_198576.4(AGRN):c.5141+4G>A
|
rs2100683834
|
|
NM_198576.4(AGRN):c.5141+5G>T
|
rs778508611
|
|
NM_198576.4(AGRN):c.5146A>G (p.Arg1716Gly)
|
rs1022796152
|
|
NM_198576.4(AGRN):c.5153C>T (p.Pro1718Leu)
|
rs1570246147
|
|
NM_198576.4(AGRN):c.5162T>C (p.Leu1721Pro)
|
|
|
NM_198576.4(AGRN):c.5170T>A (p.Trp1724Arg)
|
rs1448487408
|
|
NM_198576.4(AGRN):c.5186T>C (p.Leu1729Pro)
|
rs2100684858
|
|
NM_198576.4(AGRN):c.5201G>C (p.Arg1734Pro)
|
rs145444272
|
|
NM_198576.4(AGRN):c.5201G>T (p.Arg1734Leu)
|
rs145444272
|
|
NM_198576.4(AGRN):c.5222G>T (p.Gly1741Val)
|
rs2100685108
|
|
NM_198576.4(AGRN):c.5224G>A (p.Asp1742Asn)
|
rs773290813
|
|
NM_198576.4(AGRN):c.5234G>A (p.Arg1745His)
|
|
|
NM_198576.4(AGRN):c.5253G>A (p.Pro1751=)
|
rs13303235
|
|
NM_198576.4(AGRN):c.5266G>A (p.Val1756Ile)
|
rs760176911
|
|
NM_198576.4(AGRN):c.5273A>T (p.Asn1758Ile)
|
rs2100687539
|
|
NM_198576.4(AGRN):c.5294T>C (p.Val1765Ala)
|
rs1645279656
|
|
NM_198576.4(AGRN):c.5305C>T (p.Pro1769Ser)
|
rs1446898012
|
|
NM_198576.4(AGRN):c.5315_5317del (p.Ser1772del)
|
rs1302115581
|
|
NM_198576.4(AGRN):c.5328TGC[4] (p.Ala1779dup)
|
rs1645281090
|
|
NM_198576.4(AGRN):c.5332G>A (p.Ala1778Thr)
|
rs538792693
|
|
NM_198576.4(AGRN):c.5353G>C (p.Asp1785His)
|
rs144245019
|
|
NM_198576.4(AGRN):c.535_540del (p.Phe179_Gly180del)
|
|
|
NM_198576.4(AGRN):c.5372T>C (p.Val1791Ala)
|
rs2100688589
|
|
NM_198576.4(AGRN):c.538G>C (p.Gly180Arg)
|
|
|
NM_198576.4(AGRN):c.5395C>G (p.Leu1799Val)
|
|
|
NM_198576.4(AGRN):c.53TGG[1] (p.Val19del)
|
rs1039651972
|
|
NM_198576.4(AGRN):c.5401C>T (p.Pro1801Ser)
|
rs2100688731
|
|
NM_198576.4(AGRN):c.5409C>A (p.His1803Gln)
|
rs192987166
|
|
NM_198576.4(AGRN):c.5441C>T (p.Ala1814Val)
|
rs544353964
|
|
NM_198576.4(AGRN):c.544G>A (p.Val182Met)
|
rs561344136
|
|
NM_198576.4(AGRN):c.5456C>T (p.Thr1819Ile)
|
rs72900459
|
|
NM_198576.4(AGRN):c.5458C>A (p.Arg1820=)
|
rs752720189
|
|
NM_198576.4(AGRN):c.5512G>A (p.Ala1838Thr)
|
|
|
NM_198576.4(AGRN):c.5516A>G (p.Tyr1839Cys)
|
rs1553178384
|
|
NM_198576.4(AGRN):c.5533G>A (p.Gly1845Arg)
|
rs750311204
|
|
NM_198576.4(AGRN):c.5555G>T (p.Cys1852Phe)
|
rs1645295133
|
|
NM_198576.4(AGRN):c.5556C>G (p.Cys1852Trp)
|
rs538293035
|
|
NM_198576.4(AGRN):c.5574G>T (p.Glu1858Asp)
|
rs1645298543
|
|
NM_198576.4(AGRN):c.5597C>A (p.Thr1866Asn)
|
|
|
NM_198576.4(AGRN):c.5614C>T (p.Arg1872Trp)
|
rs751301380
|
|
NM_198576.4(AGRN):c.5618C>G (p.Thr1873Ser)
|
|
|
NM_198576.4(AGRN):c.5622T>A (p.Phe1874Leu)
|
rs1645300315
|
|
NM_198576.4(AGRN):c.5638G>A (p.Ala1880Thr)
|
|
|
NM_198576.4(AGRN):c.5659G>A (p.Ala1887Thr)
|
rs1438398169
|
|
NM_198576.4(AGRN):c.565G>A (p.Gly189Arg)
|
rs1245517864
|
|
NM_198576.4(AGRN):c.5725A>C (p.Ser1909Arg)
|
rs1553178845
|
|
NM_198576.4(AGRN):c.5738C>G (p.Thr1913Arg)
|
rs201604787
|
|
NM_198576.4(AGRN):c.5749G>C (p.Asp1917His)
|
|
|
NM_198576.4(AGRN):c.574C>G (p.Arg192Gly)
|
|
|
NM_198576.4(AGRN):c.5837C>T (p.Pro1946Leu)
|
rs771364268
|
|
NM_198576.4(AGRN):c.5873A>G (p.His1958Arg)
|
|
|
NM_198576.4(AGRN):c.5908A>G (p.Asn1970Asp)
|
rs1473312060
|
|
NM_198576.4(AGRN):c.5917C>T (p.Pro1973Ser)
|
|
|
NM_198576.4(AGRN):c.593AGA[1] (p.Lys199del)
|
rs749209897
|
|
NM_198576.4(AGRN):c.5942G>T (p.Gly1981Val)
|
rs2100702471
|
|
NM_198576.4(AGRN):c.5954_5955delinsAT (p.Leu1985His)
|
|
|
NM_198576.4(AGRN):c.5965G>T (p.Gly1989Ter)
|
|
|
NM_198576.4(AGRN):c.5976G>A (p.Trp1992Ter)
|
rs776480996
|
|
NM_198576.4(AGRN):c.5976G>T (p.Trp1992Cys)
|
rs776480996
|
|
NM_198576.4(AGRN):c.6019A>G (p.Lys2007Glu)
|
rs1057522367
|
|
NM_198576.4(AGRN):c.601C>G (p.Pro201Ala)
|
|
|
NM_198576.4(AGRN):c.6020A>G (p.Lys2007Arg)
|
rs1645410114
|
|
NM_198576.4(AGRN):c.6035G>C (p.Gly2012Ala)
|
rs1645410786
|
|
NM_198576.4(AGRN):c.6057C>G (p.Asp2019Glu)
|
|
|
NM_198576.4(AGRN):c.6058G>A (p.Val2020Met)
|
|
|
NM_198576.4(AGRN):c.6059TGG[2] (p.Val2022del)
|
rs1645411691
|
|
NM_198576.4(AGRN):c.6071G>A (p.Arg2024Gln)
|
|
|
NM_198576.4(AGRN):c.608C>T (p.Pro203Leu)
|
rs2100629640
|
|
NM_198576.4(AGRN):c.6094G>A (p.Asp2032Asn)
|
|
|
NM_198576.4(AGRN):c.61G>T (p.Ala21Ser)
|
|
|
NM_198576.4(AGRN):c.620C>A (p.Ala207Glu)
|
|
|
NM_198576.4(AGRN):c.623C>T (p.Pro208Leu)
|
rs1644908404
|
|
NM_198576.4(AGRN):c.650A>G (p.Tyr217Cys)
|
rs2100629904
|
|
NM_198576.4(AGRN):c.658G>C (p.Glu220Gln)
|
rs2100629952
|
|
NM_198576.4(AGRN):c.65G>A (p.Cys22Tyr)
|
rs2100555461
|
|
NM_198576.4(AGRN):c.676G>T (p.Ala226Ser)
|
rs1449784681
|
|
NM_198576.4(AGRN):c.697C>G (p.Arg233Gly)
|
|
|
NM_198576.4(AGRN):c.700A>G (p.Ile234Val)
|
rs1644910909
|
|
NM_198576.4(AGRN):c.718G>A (p.Gly240Arg)
|
rs754282794
|
|
NM_198576.4(AGRN):c.718G>T (p.Gly240Trp)
|
rs754282794
|
|
NM_198576.4(AGRN):c.728-5C>T
|
rs2100632585
|
|
NM_198576.4(AGRN):c.749A>T (p.Asn250Ile)
|
|
|
NM_198576.4(AGRN):c.750C>G (p.Asn250Lys)
|
rs1644924796
|
|
NM_198576.4(AGRN):c.751G>A (p.Val251Met)
|
|
|
NM_198576.4(AGRN):c.762C>G (p.Ser254Arg)
|
|
|
NM_198576.4(AGRN):c.763T>C (p.Phe255Leu)
|
rs2100632861
|
|
NM_198576.4(AGRN):c.772_783del (p.Thr258_Arg261del)
|
|
|
NM_198576.4(AGRN):c.77G>A (p.Gly26Glu)
|
|
|
NM_198576.4(AGRN):c.792C>A (p.Asp264Glu)
|
rs1017639651
|
|
NM_198576.4(AGRN):c.793G>A (p.Gly265Arg)
|
rs1180169378
|
|
NM_198576.4(AGRN):c.799A>G (p.Thr267Ala)
|
rs758948924
|
|
NM_198576.4(AGRN):c.802_803delinsAT (p.Ala268Ile)
|
rs1644926945
|
|
NM_198576.4(AGRN):c.829C>G (p.Arg277Gly)
|
rs1256837701
|
|
NM_198576.4(AGRN):c.843G>C (p.Glu281Asp)
|
|
|
NM_198576.4(AGRN):c.866G>A (p.Gly289Asp)
|
rs2100633451
|
|
NM_198576.4(AGRN):c.86G>A (p.Gly29Glu)
|
rs1224863987
|
|
NM_198576.4(AGRN):c.873C>A (p.Asp291Glu)
|
rs2100633463
|
|
NM_198576.4(AGRN):c.904G>T (p.Ala302Ser)
|
rs1318084676
|
|
NM_198576.4(AGRN):c.905C>G (p.Ala302Gly)
|
|
|
NM_198576.4(AGRN):c.917A>T (p.Gln306Leu)
|
|
|
NM_198576.4(AGRN):c.923A>G (p.Asn308Ser)
|
|
|
NM_198576.4(AGRN):c.928T>C (p.Phe310Leu)
|
|
|
NM_198576.4(AGRN):c.92G>T (p.Cys31Phe)
|
rs2100555629
|
|
NM_198576.4(AGRN):c.939C>G (p.Phe313Leu)
|
|
|
NM_198576.4(AGRN):c.940G>A (p.Asp314Asn)
|
rs756357739
|
|
NM_198576.4(AGRN):c.946C>T (p.Pro316Ser)
|
|
|
NM_198576.4(AGRN):c.947C>T (p.Pro316Leu)
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|
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NM_198576.4(AGRN):c.94C>T (p.Pro32Ser)
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rs1570124541
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NM_198576.4(AGRN):c.952+6C>A
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rs980423212
|
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NM_198576.4(AGRN):c.952+6C>T
|
rs980423212
|
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NM_198576.4(AGRN):c.953-3C>T
|
|
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NM_198576.4(AGRN):c.956C>T (p.Pro319Leu)
|
rs1570194895
|
|
NM_198576.4(AGRN):c.95C>G (p.Pro32Arg)
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|
|
NM_198576.4(AGRN):c.962A>G (p.Gln321Arg)
|
|
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NM_198576.4(AGRN):c.979C>T (p.Pro327Ser)
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|
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NM_198576.4(AGRN):c.97G>A (p.Glu33Lys)
|
rs1000275884
|
|
NM_198576.4(AGRN):c.980C>G (p.Pro327Arg)
|
rs774941993
|
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NM_198576.4(AGRN):c.995G>A (p.Arg332His)
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rs762223640
|
|
Single allele
|
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