|
NM_004211.5(SLC6A5):c.1230A>G (p.Ser410=)
|
rs7925597
|
0.99649
|
|
NM_004211.5(SLC6A5):c.485C>G (p.Ala162Gly)
|
rs1443549
|
0.99417
|
|
NM_000824.5(GLRB):c.831T>C (p.Thr277=)
|
rs12507409
|
0.97830
|
|
NM_004211.5(SLC6A5):c.371T>C (p.Phe124Ser)
|
rs1443548
|
0.79432
|
|
NM_000824.5(GLRB):c.297+10C>T
|
rs41280501
|
0.42413
|
|
NM_004211.5(SLC6A5):c.304G>A (p.Gly102Ser)
|
rs1443547
|
0.36761
|
|
NM_004211.5(SLC6A5):c.2103G>A (p.Glu701=)
|
rs2276433
|
0.35869
|
|
NM_004211.5(SLC6A5):c.352C>T (p.Leu118=)
|
rs2241941
|
0.33160
|
|
NM_004211.5(SLC6A5):c.336C>T (p.Ser112=)
|
rs7109418
|
0.25043
|
|
NM_004211.5(SLC6A5):c.1387G>A (p.Asp463Asn)
|
rs1805091
|
0.22232
|
|
NM_004211.5(SLC6A5):c.2239-6T>C
|
rs2276432
|
0.17430
|
|
NM_004211.5(SLC6A5):c.2071-3C>A
|
rs72932998
|
0.14713
|
|
NM_004211.5(SLC6A5):c.1371G>C (p.Lys457Asn)
|
rs3740870
|
0.11591
|
|
NM_004211.5(SLC6A5):c.1260+20_1260+23dup
|
rs10695726
|
0.10755
|
|
NM_004211.5(SLC6A5):c.1499+15T>C
|
rs80286799
|
0.08830
|
|
NM_004211.5(SLC6A5):c.951G>A (p.Thr317=)
|
rs1443551
|
0.07046
|
|
NM_000824.5(GLRB):c.948T>C (p.Leu316=)
|
rs1801154
|
0.04794
|
|
NM_004211.5(SLC6A5):c.777A>G (p.Pro259=)
|
rs34505618
|
0.03460
|
|
NM_000171.4(GLRA1):c.1224C>T (p.Phe408=)
|
rs62636580
|
0.02490
|
|
NM_004211.5(SLC6A5):c.266C>A (p.Ala89Glu)
|
rs61736602
|
0.02191
|
|
NM_004211.5(SLC6A5):c.500C>A (p.Thr167Lys)
|
rs61736603
|
0.01875
|
|
NM_000171.4(GLRA1):c.559+8T>G
|
rs73285947
|
0.01871
|
|
NM_000171.4(GLRA1):c.1041G>A (p.Arg347=)
|
rs75463357
|
0.01573
|
|
NM_004211.5(SLC6A5):c.1496A>T (p.Tyr499Phe)
|
rs7944684
|
0.01483
|
|
NM_004211.5(SLC6A5):c.347A>G (p.Asn116Ser)
|
rs61736604
|
0.01473
|
|
NM_004211.5(SLC6A5):c.2299G>A (p.Gly767Arg)
|
rs16906628
|
0.01434
|
|
NM_000824.5(GLRB):c.611-14G>A
|
rs11936411
|
0.01234
|
|
NM_004211.5(SLC6A5):c.811+16C>T
|
rs147290648
|
0.01069
|
|
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser)
|
rs116474260
|
0.00939
|
|
NM_004211.5(SLC6A5):c.342C>G (p.Pro114=)
|
rs61736605
|
0.00773
|
|
NM_000171.4(GLRA1):c.390C>T (p.Asn130=)
|
rs112970419
|
0.00652
|
|
NM_004211.5(SLC6A5):c.57G>T (p.Ala19=)
|
rs143482044
|
0.00589
|
|
NM_004211.5(SLC6A5):c.137C>G (p.Pro46Arg)
|
rs12364685
|
0.00520
|
|
NM_000171.4(GLRA1):c.993C>T (p.Ala331=)
|
rs17112272
|
0.00476
|
|
NM_000824.5(GLRB):c.122+4T>A
|
rs3775725
|
0.00455
|
|
NM_000171.4(GLRA1):c.723G>C (p.Arg241=)
|
rs76872663
|
0.00430
|
|
NM_004211.5(SLC6A5):c.2306G>A (p.Arg769His)
|
rs75450512
|
0.00305
|
|
NM_004211.5(SLC6A5):c.2070C>T (p.Thr690=)
|
rs144357826
|
0.00278
|
|
NM_000824.5(GLRB):c.527+7T>C
|
rs138020195
|
0.00215
|
|
NM_000171.4(GLRA1):c.57-12C>T
|
rs187424144
|
0.00212
|
|
NM_000171.4(GLRA1):c.117G>C (p.Ser39=)
|
rs149023945
|
0.00191
|
|
NM_000824.5(GLRB):c.765C>T (p.Cys255=)
|
rs149595296
|
0.00178
|
|
NM_004211.5(SLC6A5):c.1548C>T (p.Ala516=)
|
rs77029901
|
0.00150
|
|
NM_004211.5(SLC6A5):c.1413C>T (p.Ala471=)
|
rs146042684
|
0.00149
|
|
NM_004211.5(SLC6A5):c.2295C>T (p.His765=)
|
rs147975180
|
0.00147
|
|
NM_001353921.2(ARHGEF9):c.49A>G (p.Ile17Val)
|
rs55868891
|
0.00125
|
|
NM_004211.5(SLC6A5):c.1554C>T (p.Phe518=)
|
rs143680068
|
0.00088
|
|
NM_004211.5(SLC6A5):c.2171G>C (p.Cys724Ser)
|
rs142440636
|
0.00076
|
|
NM_000171.4(GLRA1):c.1166A>C (p.Asn389Thr)
|
rs138173310
|
0.00071
|
|
NM_004211.5(SLC6A5):c.1738-8_1738-7del
|
rs771768092
|
0.00060
|
|
NM_004211.5(SLC6A5):c.1169G>T (p.Gly390Val)
|
rs140296233
|
0.00057
|
|
NM_004211.5(SLC6A5):c.59C>T (p.Ala20Val)
|
rs200496125
|
0.00056
|
|
NM_001353921.2(ARHGEF9):c.1113C>T (p.Gly371=)
|
rs56375542
|
0.00054
|
|
NM_000171.4(GLRA1):c.915G>A (p.Val305=)
|
rs150716717
|
0.00043
|
|
NM_000824.5(GLRB):c.185G>A (p.Arg62Lys)
|
rs144279427
|
0.00043
|
|
NM_000824.5(GLRB):c.822C>T (p.Tyr274=)
|
rs147320218
|
0.00042
|
|
NM_000824.5(GLRB):c.1198-16C>A
|
rs78670342
|
0.00039
|
|
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=)
|
rs140777637
|
0.00039
|
|
NM_004211.5(SLC6A5):c.1899C>T (p.Asp633=)
|
rs139047641
|
0.00039
|
|
NM_000171.4(GLRA1):c.1296G>T (p.Met432Ile)
|
rs141039714
|
0.00034
|
|
NM_000824.5(GLRB):c.229+8T>G
|
rs373221915
|
0.00034
|
|
NM_004211.5(SLC6A5):c.2125C>T (p.Arg709Cys)
|
rs151244472
|
0.00034
|
|
NM_004211.5(SLC6A5):c.419C>A (p.Thr140Asn)
|
rs144285788
|
0.00033
|
|
NM_000171.4(GLRA1):c.1046G>A (p.Arg349Gln)
|
rs139213838
|
0.00031
|
|
NM_004211.5(SLC6A5):c.102G>T (p.Thr34=)
|
rs762445548
|
0.00029
|
|
NM_000171.4(GLRA1):c.913-14C>A
|
rs373113309
|
0.00026
|
|
NM_000171.4(GLRA1):c.522C>T (p.Pro174=)
|
rs114046477
|
0.00025
|
|
NM_001353921.2(ARHGEF9):c.939C>G (p.Asp313Glu)
|
rs143490560
|
0.00025
|
|
NM_004211.5(SLC6A5):c.150T>G (p.Arg50=)
|
rs772388914
|
0.00025
|
|
NM_004211.5(SLC6A5):c.750G>A (p.Ser250=)
|
rs145050333
|
0.00024
|
|
NM_000824.5(GLRB):c.1133G>A (p.Gly378Glu)
|
rs149915285
|
0.00022
|
|
NM_000824.5(GLRB):c.222C>T (p.Asn74=)
|
rs147802211
|
0.00022
|
|
NM_001353921.2(ARHGEF9):c.946-4C>A
|
rs56398019
|
0.00020
|
|
NM_004211.5(SLC6A5):c.1077C>T (p.Phe359=)
|
rs111388315
|
0.00020
|
|
NM_000171.4(GLRA1):c.1214G>A (p.Arg405Gln)
|
rs199561280
|
0.00019
|
|
NM_000171.4(GLRA1):c.199G>A (p.Val67Met)
|
rs142888296
|
0.00019
|
|
NM_004211.5(SLC6A5):c.1863C>T (p.Ile621=)
|
rs147344601
|
0.00019
|
|
NM_000171.4(GLRA1):c.1031G>A (p.Arg344Gln)
|
rs199618583
|
0.00018
|
|
NM_001353921.2(ARHGEF9):c.1330A>G (p.Ile444Val)
|
rs141815718
|
0.00018
|
|
NM_001353921.2(ARHGEF9):c.1225A>G (p.Ile409Val)
|
rs56110425
|
0.00016
|
|
NM_001353921.2(ARHGEF9):c.579G>A (p.Glu193=)
|
rs56182751
|
0.00016
|
|
NM_001353921.2(ARHGEF9):c.885G>A (p.Lys295=)
|
rs199625034
|
0.00016
|
|
NM_004211.5(SLC6A5):c.1796G>T (p.Arg599Leu)
|
rs138885115
|
0.00016
|
|
NM_000824.5(GLRB):c.121T>C (p.Ser41Pro)
|
rs139168167
|
0.00015
|
|
NM_001353921.2(ARHGEF9):c.1471G>A (p.Asp491Asn)
|
rs782577519
|
0.00015
|
|
NM_001353921.2(ARHGEF9):c.1488G>A (p.Ser496=)
|
rs782580975
|
0.00015
|
|
NM_000171.4(GLRA1):c.297C>T (p.Pro99=)
|
rs369500388
|
0.00014
|
|
NM_004211.5(SLC6A5):c.1059C>T (p.Asn353=)
|
rs377270882
|
0.00014
|
|
NM_004211.5(SLC6A5):c.1046C>T (p.Thr349Ile)
|
rs201604337
|
0.00012
|
|
NM_004211.5(SLC6A5):c.1394C>T (p.Thr465Met)
|
rs146647574
|
0.00012
|
|
NM_000824.5(GLRB):c.120A>G (p.Pro40=)
|
rs144873205
|
0.00011
|
|
NM_001353921.2(ARHGEF9):c.946-16C>T
|
rs781867369
|
0.00011
|
|
NM_004211.5(SLC6A5):c.1047C>T (p.Thr349=)
|
rs149532917
|
0.00011
|
|
NM_004211.5(SLC6A5):c.1239A>G (p.Lys413=)
|
rs1049082253
|
0.00011
|
|
NM_004211.5(SLC6A5):c.1627C>T (p.Pro543Ser)
|
rs555858151
|
0.00011
|
|
NM_004211.5(SLC6A5):c.2166C>T (p.Leu722=)
|
rs138242228
|
0.00011
|
|
NM_004211.5(SLC6A5):c.2258C>T (p.Ser753Leu)
|
rs1715297
|
0.00011
|
|
NM_004211.5(SLC6A5):c.823G>A (p.Ala275Thr)
|
rs748625983
|
0.00011
|
|
NM_000171.4(GLRA1):c.1179C>T (p.Pro393=)
|
rs772443569
|
0.00010
|
|
NM_000171.4(GLRA1):c.89G>A (p.Arg30His)
|
rs199910297
|
0.00010
|
|
NM_004211.5(SLC6A5):c.2296C>T (p.Arg766Cys)
|
rs141654146
|
0.00010
|
|
NM_000171.4(GLRA1):c.50T>C (p.Phe17Ser)
|
rs376426309
|
0.00009
|
|
NM_000824.5(GLRB):c.500G>A (p.Arg167His)
|
rs200253694
|
0.00009
|
|
NM_000824.5(GLRB):c.540T>C (p.Thr180=)
|
rs770664655
|
0.00009
|
|
NM_000824.5(GLRB):c.92A>G (p.Lys31Arg)
|
rs149863285
|
0.00009
|
|
NM_001353921.2(ARHGEF9):c.1060A>C (p.Met354Leu)
|
rs782248986
|
0.00009
|
|
NM_001353921.2(ARHGEF9):c.1386A>G (p.Gln462=)
|
rs782354481
|
0.00009
|
|
NM_001353921.2(ARHGEF9):c.1530A>T (p.Pro510=)
|
rs145815177
|
0.00009
|
|
NM_001353921.2(ARHGEF9):c.31-29583C>A
|
rs370045250
|
0.00009
|
|
NM_004211.5(SLC6A5):c.1274C>T (p.Thr425Met)
|
rs121908498
|
0.00009
|
|
NM_004211.5(SLC6A5):c.1597G>A (p.Val533Ile)
|
rs748281746
|
0.00009
|
|
NM_004211.5(SLC6A5):c.1690G>T (p.Ala564Ser)
|
rs779916559
|
0.00009
|
|
NM_000824.5(GLRB):c.313A>G (p.Ile105Val)
|
rs529837532
|
0.00008
|
|
NM_000824.5(GLRB):c.610+18T>A
|
rs747212960
|
0.00008
|
|
NM_000824.5(GLRB):c.624T>C (p.Thr208=)
|
rs200824493
|
0.00008
|
|
NM_000824.5(GLRB):c.838A>G (p.Ile280Val)
|
rs199840817
|
0.00008
|
|
NM_001353921.2(ARHGEF9):c.1433C>T (p.Pro478Leu)
|
rs371605184
|
0.00008
|
|
NM_001353921.2(ARHGEF9):c.582C>T (p.His194=)
|
rs150129110
|
0.00008
|
|
NM_004211.5(SLC6A5):c.1696A>G (p.Ile566Val)
|
rs200003617
|
0.00008
|
|
NM_000171.4(GLRA1):c.23G>C (p.Arg8Pro)
|
rs74542605
|
0.00007
|
|
NM_000824.5(GLRB):c.1197+3A>G
|
rs369898129
|
0.00007
|
|
NM_000824.5(GLRB):c.205C>T (p.Pro69Ser)
|
rs555010961
|
0.00007
|
|
NM_001353921.2(ARHGEF9):c.24G>A (p.Ser8=)
|
rs1413001108
|
0.00007
|
|
NM_001353921.2(ARHGEF9):c.402+7A>T
|
rs373304318
|
0.00007
|
|
NM_001353921.2(ARHGEF9):c.447C>T (p.Asp149=)
|
rs782313473
|
0.00007
|
|
NM_004211.5(SLC6A5):c.1261-12T>C
|
rs765415133
|
0.00007
|
|
NM_004211.5(SLC6A5):c.1277C>G (p.Ala426Gly)
|
rs375955428
|
0.00007
|
|
NM_004211.5(SLC6A5):c.1736T>C (p.Met579Thr)
|
rs761723711
|
0.00007
|
|
NM_004211.5(SLC6A5):c.2267C>T (p.Pro756Leu)
|
rs199835047
|
0.00007
|
|
NM_000171.4(GLRA1):c.1325G>A (p.Arg442His)
|
rs200130685
|
0.00006
|
|
NM_000171.4(GLRA1):c.324C>T (p.Asp108=)
|
rs762489154
|
0.00006
|
|
NM_000171.4(GLRA1):c.433T>C (p.Leu145=)
|
rs371496582
|
0.00006
|
|
NM_000171.4(GLRA1):c.636G>A (p.Leu212=)
|
rs377524694
|
0.00006
|
|
NM_000171.4(GLRA1):c.88C>A (p.Arg30Ser)
|
rs369873008
|
0.00006
|
|
NM_000824.5(GLRB):c.1044A>G (p.Ala348=)
|
rs139165593
|
0.00006
|
|
NM_000824.5(GLRB):c.1054G>A (p.Val352Met)
|
rs764867861
|
0.00006
|
|
NM_000824.5(GLRB):c.1290T>C (p.Phe430=)
|
rs767042497
|
0.00006
|
|
NM_000824.5(GLRB):c.298-13A>C
|
rs371129516
|
0.00006
|
|
NM_000824.5(GLRB):c.298-6del
|
rs774738353
|
0.00006
|
|
NM_000824.5(GLRB):c.52G>A (p.Glu18Lys)
|
rs547823780
|
0.00006
|
|
NM_000824.5(GLRB):c.882G>A (p.Ala294=)
|
rs376097077
|
0.00006
|
|
NM_000824.5(GLRB):c.905-15T>C
|
rs759530266
|
0.00006
|
|
NM_001353921.2(ARHGEF9):c.351G>A (p.Glu117=)
|
rs373866956
|
0.00006
|
|
NM_001353921.2(ARHGEF9):c.777G>A (p.Gln259=)
|
rs1057522740
|
0.00006
|
|
NM_004211.5(SLC6A5):c.1572C>T (p.Ile524=)
|
rs139526317
|
0.00006
|
|
NM_004211.5(SLC6A5):c.1602C>T (p.Asn534=)
|
rs770754817
|
0.00006
|
|
NM_004211.5(SLC6A5):c.1683G>A (p.Pro561=)
|
rs147215703
|
0.00006
|
|
NM_004211.5(SLC6A5):c.1735A>G (p.Met579Val)
|
rs368756114
|
0.00006
|
|
NM_004211.5(SLC6A5):c.21G>A (p.Lys7=)
|
rs984820371
|
0.00006
|
|
NM_004211.5(SLC6A5):c.2214T>A (p.His738Gln)
|
rs376060015
|
0.00006
|
|
NM_004211.5(SLC6A5):c.267G>T (p.Ala89=)
|
rs569857405
|
0.00006
|
|
NM_004211.5(SLC6A5):c.309G>T (p.Ala103=)
|
rs763390370
|
0.00006
|
|
NM_004211.5(SLC6A5):c.356A>G (p.His119Arg)
|
rs201319465
|
0.00006
|
|
NM_004211.5(SLC6A5):c.389G>C (p.Gly130Ala)
|
rs747760232
|
0.00006
|
|
NM_004211.5(SLC6A5):c.4-9T>G
|
rs534581695
|
0.00006
|
|
NM_004211.5(SLC6A5):c.541-15C>A
|
rs546551639
|
0.00006
|
|
NM_004211.5(SLC6A5):c.730A>G (p.Ile244Val)
|
rs200933754
|
0.00006
|
|
NM_000171.4(GLRA1):c.1040G>C (p.Arg347Thr)
|
rs147156518
|
0.00005
|
|
NM_000171.4(GLRA1):c.1174A>G (p.Asn392Asp)
|
rs775599403
|
0.00005
|
|
NM_000171.4(GLRA1):c.448C>T (p.Arg150Trp)
|
rs374834686
|
0.00005
|
|
NM_000171.4(GLRA1):c.657A>G (p.Glu219=)
|
rs146034962
|
0.00005
|
|
NM_000824.5(GLRB):c.1114C>A (p.Gln372Lys)
|
rs770934436
|
0.00005
|
|
NM_000824.5(GLRB):c.1338C>T (p.Asn446=)
|
rs757748175
|
0.00005
|
|
NM_000824.5(GLRB):c.1458G>C (p.Leu486Phe)
|
rs377603371
|
0.00005
|
|
NM_000824.5(GLRB):c.496T>C (p.Phe166Leu)
|
rs368748559
|
0.00005
|
|
NM_000824.5(GLRB):c.816G>A (p.Gly272=)
|
rs1055997635
|
0.00005
|
|
NM_000824.5(GLRB):c.952G>A (p.Ala318Thr)
|
rs750803516
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.1183A>G (p.Met395Val)
|
rs781988728
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.1390+18A>G
|
rs782653539
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.1391-4C>G
|
rs1556301481
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.1402G>T (p.Ala468Ser)
|
rs781870482
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.1443G>A (p.Pro481=)
|
rs782097997
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.1465G>C (p.Val489Leu)
|
rs369081815
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.381G>A (p.Lys127=)
|
rs55818901
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.729T>C (p.Asp243=)
|
rs781930227
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.747A>C (p.Pro249=)
|
rs369716500
|
0.00005
|
|
NM_004211.5(SLC6A5):c.169A>G (p.Thr57Ala)
|
rs539354561
|
0.00005
|
|
NM_004211.5(SLC6A5):c.1795C>T (p.Arg599Cys)
|
rs755102755
|
0.00005
|
|
NM_004211.5(SLC6A5):c.340C>T (p.Pro114Ser)
|
rs746842267
|
0.00005
|
|
NM_004211.5(SLC6A5):c.726A>G (p.Leu242=)
|
rs111550381
|
0.00005
|
|
NM_004211.5(SLC6A5):c.76C>T (p.Pro26Ser)
|
rs749057466
|
0.00005
|
|
NM_004211.5(SLC6A5):c.812-15T>C
|
rs368287325
|
0.00005
|
|
NM_000171.4(GLRA1):c.1022A>G (p.Glu341Gly)
|
rs77451630
|
0.00004
|
|
NM_000171.4(GLRA1):c.1192T>C (p.Ser398Pro)
|
rs1210847781
|
0.00004
|
|
NM_000171.4(GLRA1):c.1295T>C (p.Met432Thr)
|
rs1284734503
|
0.00004
|
|
NM_000171.4(GLRA1):c.1331A>G (p.Glu444Gly)
|
rs752781486
|
0.00004
|
|
NM_000171.4(GLRA1):c.411T>C (p.His137=)
|
rs1455947088
|
0.00004
|
|
NM_000171.4(GLRA1):c.449G>A (p.Arg150Gln)
|
rs561848502
|
0.00004
|
|
NM_000171.4(GLRA1):c.732G>A (p.Leu244=)
|
rs112560122
|
0.00004
|
|
NM_000171.4(GLRA1):c.858C>T (p.Thr286=)
|
rs781137100
|
0.00004
|
|
NM_000824.5(GLRB):c.1293A>G (p.Glu431=)
|
rs376189752
|
0.00004
|
|
NM_000824.5(GLRB):c.1415G>A (p.Arg472Gln)
|
rs1053763362
|
0.00004
|
|
NM_000824.5(GLRB):c.405C>T (p.Tyr135=)
|
rs370272682
|
0.00004
|
|
NM_000824.5(GLRB):c.415T>C (p.Trp139Arg)
|
rs143539995
|
0.00004
|
|
NM_000824.5(GLRB):c.423T>C (p.Pro141=)
|
rs145564477
|
0.00004
|
|
NM_000824.5(GLRB):c.587G>A (p.Arg196His)
|
rs141976916
|
0.00004
|
|
NM_000824.5(GLRB):c.751+5G>A
|
rs779826547
|
0.00004
|
|
NM_000824.5(GLRB):c.929C>T (p.Ala310Val)
|
rs745430765
|
0.00004
|
|
NM_001353921.2(ARHGEF9):c.372C>T (p.His124=)
|
rs138198839
|
0.00004
|
|
NM_001353921.2(ARHGEF9):c.555C>T (p.Ser185=)
|
rs782520132
|
0.00004
|
|
NM_004211.5(SLC6A5):c.1048G>A (p.Ala350Thr)
|
rs759580965
|
0.00004
|
|
NM_004211.5(SLC6A5):c.1131C>A (p.Tyr377Ter)
|
rs121908493
|
0.00004
|
|
NM_004211.5(SLC6A5):c.1281G>A (p.Thr427=)
|
rs148416271
|
0.00004
|
|
NM_004211.5(SLC6A5):c.1472A>G (p.Tyr491Cys)
|
rs121908494
|
0.00004
|
|
NM_004211.5(SLC6A5):c.1555G>A (p.Val519Ile)
|
rs570442943
|
0.00004
|
|
NM_004211.5(SLC6A5):c.1653G>A (p.Pro551=)
|
rs200961564
|
0.00004
|
|
NM_004211.5(SLC6A5):c.1738-9C>T
|
rs1230319643
|
0.00004
|
|
NM_004211.5(SLC6A5):c.183T>G (p.Thr61=)
|
rs760268719
|
0.00004
|
|
NM_004211.5(SLC6A5):c.1937T>C (p.Ile646Thr)
|
rs760528634
|
0.00004
|
|
NM_004211.5(SLC6A5):c.2114A>G (p.Tyr705Cys)
|
rs143918578
|
0.00004
|
|
NM_004211.5(SLC6A5):c.2268G>A (p.Pro756=)
|
rs373204248
|
0.00004
|
|
NM_004211.5(SLC6A5):c.2305C>T (p.Arg769Cys)
|
rs756851276
|
0.00004
|
|
NM_004211.5(SLC6A5):c.422T>C (p.Leu141Pro)
|
rs147809509
|
0.00004
|
|
NM_004211.5(SLC6A5):c.440C>T (p.Pro147Leu)
|
rs141037254
|
0.00004
|
|
NM_004211.5(SLC6A5):c.52G>C (p.Glu18Gln)
|
rs779942621
|
0.00004
|
|
NM_004211.5(SLC6A5):c.820A>G (p.Ile274Val)
|
rs141471006
|
0.00004
|
|
NM_000171.4(GLRA1):c.1032A>G (p.Arg344=)
|
rs78363193
|
0.00003
|
|
NM_000171.4(GLRA1):c.1045C>A (p.Arg349=)
|
rs752071816
|
0.00003
|
|
NM_000171.4(GLRA1):c.1058A>G (p.Lys353Arg)
|
rs764794082
|
0.00003
|
|
NM_000171.4(GLRA1):c.1072G>A (p.Gly358Arg)
|
rs774175391
|
0.00003
|
|
NM_000171.4(GLRA1):c.1199C>T (p.Ser400Phe)
|
rs780710712
|
0.00003
|
|
NM_000171.4(GLRA1):c.1210A>T (p.Met404Leu)
|
rs151276682
|
0.00003
|
|
NM_000171.4(GLRA1):c.1259G>A (p.Arg420His)
|
rs281864919
|
0.00003
|
|
NM_000171.4(GLRA1):c.1274T>C (p.Met425Thr)
|
rs747623314
|
0.00003
|
|
NM_000171.4(GLRA1):c.198C>T (p.Asn66=)
|
rs200606738
|
0.00003
|
|
NM_000171.4(GLRA1):c.476+8C>T
|
rs776829161
|
0.00003
|
|
NM_000171.4(GLRA1):c.888C>T (p.Ser296=)
|
rs192326771
|
0.00003
|
|
NM_000171.4(GLRA1):c.93C>T (p.Ser31=)
|
rs376610236
|
0.00003
|
|
NM_000171.4(GLRA1):c.94G>A (p.Ala32Thr)
|
rs779993828
|
0.00003
|
|
NM_000171.4(GLRA1):c.981A>G (p.Leu327=)
|
rs769499149
|
0.00003
|
|
NM_000824.5(GLRB):c.1254T>G (p.Asn418Lys)
|
rs373002083
|
0.00003
|
|
NM_000824.5(GLRB):c.1342C>T (p.Leu448Phe)
|
rs750707925
|
0.00003
|
|
NM_000824.5(GLRB):c.37A>G (p.Ile13Val)
|
rs771937343
|
0.00003
|
|
NM_000824.5(GLRB):c.448A>G (p.Ser150Gly)
|
rs930078810
|
0.00003
|
|
NM_000824.5(GLRB):c.546A>C (p.Ser182=)
|
rs551200623
|
0.00003
|
|
NM_000824.5(GLRB):c.610+5G>A
|
rs281864922
|
0.00003
|
|
NM_000824.5(GLRB):c.611-15T>A
|
rs1450363870
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.1017C>T (p.Tyr339=)
|
rs782314375
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.1490A>G (p.Gln497Arg)
|
rs371200226
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.261G>T (p.Gln87His)
|
rs373001354
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.564A>T (p.Gly188=)
|
rs782187939
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.583-18T>G
|
rs1057521815
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.732T>A (p.Gly244=)
|
rs1322872780
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.924G>A (p.Gln308=)
|
rs1556358973
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.949G>A (p.Glu317Lys)
|
rs782166488
|
0.00003
|
|
NM_004211.5(SLC6A5):c.1287G>A (p.Pro429=)
|
rs536309591
|
0.00003
|
|
NM_004211.5(SLC6A5):c.1293C>T (p.Val431=)
|
rs367746184
|
0.00003
|
|
NM_004211.5(SLC6A5):c.1323C>T (p.Val441=)
|
rs572329486
|
0.00003
|
|
NM_004211.5(SLC6A5):c.1339G>C (p.Gly447Arg)
|
rs1015398111
|
0.00003
|
|
NM_004211.5(SLC6A5):c.1776C>T (p.Asp592=)
|
rs376668924
|
0.00003
|
|
NM_004211.5(SLC6A5):c.1948G>A (p.Val650Met)
|
rs143967107
|
0.00003
|
|
NM_004211.5(SLC6A5):c.2127C>A (p.Arg709=)
|
rs749237379
|
0.00003
|
|
NM_004211.5(SLC6A5):c.2280A>G (p.Pro760=)
|
rs760968008
|
0.00003
|
|
NM_004211.5(SLC6A5):c.2290C>G (p.Gln764Glu)
|
rs753956513
|
0.00003
|
|
NM_004211.5(SLC6A5):c.2298C>T (p.Arg766=)
|
rs534286800
|
0.00003
|
|
NM_004211.5(SLC6A5):c.2322C>T (p.Ile774=)
|
rs141663413
|
0.00003
|
|
NM_004211.5(SLC6A5):c.375G>T (p.Leu125=)
|
rs563708600
|
0.00003
|
|
NM_004211.5(SLC6A5):c.399C>A (p.Asn133Lys)
|
rs774770948
|
0.00003
|
|
NM_004211.5(SLC6A5):c.66G>A (p.Ala22=)
|
rs557384426
|
0.00003
|
|
NM_004211.5(SLC6A5):c.807A>G (p.Leu269=)
|
rs1020431122
|
0.00003
|
|
NM_004211.5(SLC6A5):c.90C>A (p.Cys30Ter)
|
rs186704689
|
0.00003
|
|
NM_000171.4(GLRA1):c.1010G>A (p.Arg337Gln)
|
rs1169119477
|
0.00002
|
|
NM_000171.4(GLRA1):c.1030C>T (p.Arg344Ter)
|
rs281864913
|
0.00002
|
|
NM_000171.4(GLRA1):c.1185T>C (p.Pro395=)
|
rs368049933
|
0.00002
|
|
NM_000171.4(GLRA1):c.1319T>C (p.Ile440Thr)
|
rs555222589
|
0.00002
|
|
NM_000171.4(GLRA1):c.1326T>C (p.Arg442=)
|
rs536795343
|
0.00002
|
|
NM_000171.4(GLRA1):c.150C>T (p.Ser50=)
|
rs1402153449
|
0.00002
|
|
NM_000171.4(GLRA1):c.253-7G>A
|
rs940690636
|
0.00002
|
|
NM_000171.4(GLRA1):c.391G>A (p.Glu131Lys)
|
rs779234204
|
0.00002
|
|
NM_000171.4(GLRA1):c.477-5C>T
|
rs560187719
|
0.00002
|
|
NM_000171.4(GLRA1):c.57C>T (p.Ser19=)
|
rs1003664889
|
0.00002
|
|
NM_000171.4(GLRA1):c.609C>T (p.Ala203=)
|
rs773529731
|
0.00002
|
|
NM_000171.4(GLRA1):c.622G>A (p.Asp208Asn)
|
rs763939987
|
0.00002
|
|
NM_000171.4(GLRA1):c.656A>G (p.Glu219Gly)
|
rs773542781
|
0.00002
|
|
NM_000171.4(GLRA1):c.696A>G (p.Thr232=)
|
rs374982085
|
0.00002
|
|
NM_000171.4(GLRA1):c.722G>A (p.Arg241Gln)
|
rs375819582
|
0.00002
|
|
NM_000171.4(GLRA1):c.736C>T (p.Arg246Trp)
|
rs751659671
|
0.00002
|
|
NM_000824.5(GLRB):c.1117G>C (p.Ala373Pro)
|
rs774510039
|
0.00002
|
|
NM_000824.5(GLRB):c.1197+20A>G
|
rs761762172
|
0.00002
|
|
NM_000824.5(GLRB):c.1213T>G (p.Cys405Gly)
|
rs780143117
|
0.00002
|
|
NM_000824.5(GLRB):c.207C>G (p.Pro69=)
|
rs772979401
|
0.00002
|
|
NM_000824.5(GLRB):c.377A>T (p.Asp126Val)
|
rs201218410
|
0.00002
|
|
NM_000824.5(GLRB):c.455A>G (p.Asn152Ser)
|
rs374325111
|
0.00002
|
|
NM_000824.5(GLRB):c.736T>C (p.Tyr246His)
|
rs745824514
|
0.00002
|
|
NM_000824.5(GLRB):c.786G>A (p.Leu262=)
|
rs780810946
|
0.00002
|
|
NM_000824.5(GLRB):c.7T>G (p.Phe3Val)
|
rs914595544
|
0.00002
|
|
NM_000824.5(GLRB):c.844G>A (p.Val282Ile)
|
rs938103926
|
0.00002
|
|
NM_000824.5(GLRB):c.873C>A (p.Asn291Lys)
|
rs1736710455
|
0.00002
|
|
NM_000824.5(GLRB):c.904+13A>G
|
rs752476441
|
0.00002
|
|
NM_000824.5(GLRB):c.904+3A>G
|
rs751547530
|
0.00002
|
|
NM_000824.5(GLRB):c.95G>A (p.Gly32Glu)
|
rs750870150
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1011G>A (p.Gln337=)
|
rs1330960420
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.105A>G (p.Ala35=)
|
rs782666474
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1078-19C>T
|
rs1412565246
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1293G>A (p.Arg431=)
|
rs782387990
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1390+11C>T
|
rs782212638
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1452C>T (p.His484=)
|
rs782395885
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1479C>T (p.Ile493=)
|
rs781904925
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.254A>T (p.Asp85Val)
|
rs377326713
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.305G>A (p.Arg102Gln)
|
rs782087438
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.448G>A (p.Glu150Lys)
|
rs782237174
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.576A>G (p.Leu192=)
|
rs1556389015
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.815+11G>A
|
rs782246143
|
0.00002
|
|
NM_004211.5(SLC6A5):c.1007A>C (p.His336Pro)
|
rs753404579
|
0.00002
|
|
NM_004211.5(SLC6A5):c.1093A>G (p.Lys365Glu)
|
rs758953823
|
0.00002
|
|
NM_004211.5(SLC6A5):c.1101T>G (p.Phe367Leu)
|
rs147227187
|
0.00002
|
|
NM_004211.5(SLC6A5):c.1200C>T (p.Leu400=)
|
rs369502336
|
0.00002
|
|
NM_004211.5(SLC6A5):c.1251T>C (p.Thr417=)
|
rs376466697
|
0.00002
|
|
NM_004211.5(SLC6A5):c.1260+18T>C
|
rs768206940
|
0.00002
|
|
NM_004211.5(SLC6A5):c.1315C>T (p.Arg439Ter)
|
rs142573911
|
0.00002
|
|
NM_004211.5(SLC6A5):c.1499+5G>A
|
rs376886042
|
0.00002
|
|
NM_004211.5(SLC6A5):c.1858A>G (p.Met620Val)
|
rs767494455
|
0.00002
|
|
NM_004211.5(SLC6A5):c.1959T>C (p.Ser653=)
|
rs201879532
|
0.00002
|
|
NM_004211.5(SLC6A5):c.2186T>C (p.Ile729Thr)
|
rs142855098
|
0.00002
|
|
NM_004211.5(SLC6A5):c.2369A>G (p.Asp790Gly)
|
rs752579694
|
0.00002
|
|
NM_004211.5(SLC6A5):c.2381G>A (p.Gly794Asp)
|
rs753579914
|
0.00002
|
|
NM_004211.5(SLC6A5):c.323C>G (p.Pro108Arg)
|
rs759697015
|
0.00002
|
|
NM_004211.5(SLC6A5):c.390G>A (p.Gly130=)
|
rs755829819
|
0.00002
|
|
NM_004211.5(SLC6A5):c.513G>A (p.Pro171=)
|
rs1486407794
|
0.00002
|
|
NM_004211.5(SLC6A5):c.541-19T>C
|
rs749443916
|
0.00002
|
|
NM_004211.5(SLC6A5):c.798C>T (p.Ile266=)
|
rs746701792
|
0.00002
|
|
NM_004211.5(SLC6A5):c.825G>A (p.Ala275=)
|
rs770266189
|
0.00002
|
|
NM_004211.5(SLC6A5):c.832A>T (p.Ile278Phe)
|
rs773625816
|
0.00002
|
|
NM_004211.5(SLC6A5):c.9C>A (p.Cys3Ter)
|
rs752254977
|
0.00002
|
|
NM_000171.4(GLRA1):c.1023G>A (p.Glu341=)
|
rs1310367742
|
0.00001
|
|
NM_000171.4(GLRA1):c.1069G>A (p.Ala357Thr)
|
rs1379750212
|
0.00001
|
|
NM_000171.4(GLRA1):c.1080C>T (p.Gly360=)
|
rs1763178853
|
0.00001
|
|
NM_000171.4(GLRA1):c.1081C>T (p.Arg361Cys)
|
rs748241173
|
0.00001
|
|
NM_000171.4(GLRA1):c.1082G>A (p.Arg361His)
|
rs147471585
|
0.00001
|
|
NM_000171.4(GLRA1):c.1093T>G (p.Ser365Ala)
|
rs146911085
|
0.00001
|
|
NM_000171.4(GLRA1):c.1097C>A (p.Ala366Asp)
|
rs372342365
|
0.00001
|
|
NM_000171.4(GLRA1):c.10T>G (p.Phe4Val)
|
rs753680915
|
0.00001
|
|
NM_000171.4(GLRA1):c.1101T>C (p.Tyr367=)
|
rs758811460
|
0.00001
|
|
NM_000171.4(GLRA1):c.1110C>T (p.Gly370=)
|
rs779431245
|
0.00001
|
|
NM_000171.4(GLRA1):c.1152C>T (p.Gly384=)
|
rs570002981
|
0.00001
|
|
NM_000171.4(GLRA1):c.1153G>A (p.Ala385Thr)
|
rs761971337
|
0.00001
|
|
NM_000171.4(GLRA1):c.1154C>A (p.Ala385Asp)
|
rs1581592590
|
0.00001
|
|
NM_000171.4(GLRA1):c.1158C>A (p.Asn386Lys)
|
rs776916010
|
0.00001
|
|
NM_000171.4(GLRA1):c.1161C>G (p.Asn387Lys)
|
rs768970494
|
0.00001
|
|
NM_000171.4(GLRA1):c.116C>T (p.Ser39Leu)
|
rs766445967
|
0.00001
|
|
NM_000171.4(GLRA1):c.1241A>T (p.Lys414Met)
|
rs775717500
|
0.00001
|
|
NM_000171.4(GLRA1):c.1253T>C (p.Ile418Thr)
|
rs1239753439
|
0.00001
|
|
NM_000171.4(GLRA1):c.1261A>G (p.Ile421Val)
|
rs778280697
|
0.00001
|
|
NM_000171.4(GLRA1):c.1292A>G (p.Asn431Ser)
|
rs780883216
|
0.00001
|
|
NM_000171.4(GLRA1):c.1315A>C (p.Lys439Gln)
|
rs1050028851
|
0.00001
|
|
NM_000171.4(GLRA1):c.1335C>T (p.Asp445=)
|
rs767779482
|
0.00001
|
|
NM_000171.4(GLRA1):c.1339C>A (p.His447Asn)
|
rs146481873
|
0.00001
|
|
NM_000171.4(GLRA1):c.1341C>T (p.His447=)
|
rs773707878
|
0.00001
|
|
NM_000171.4(GLRA1):c.143G>A (p.Arg48Lys)
|
rs151029950
|
0.00001
|
|
NM_000171.4(GLRA1):c.151G>A (p.Gly51Arg)
|
rs1408253842
|
0.00001
|
|
NM_000171.4(GLRA1):c.15T>A (p.Asn5Lys)
|
rs373114110
|
0.00001
|
|
NM_000171.4(GLRA1):c.165G>C (p.Arg55Ser)
|
rs1396622824
|
0.00001
|
|
NM_000171.4(GLRA1):c.184+2T>C
|
rs1754097992
|
0.00001
|
|
NM_000171.4(GLRA1):c.185-9G>A
|
rs371382193
|
0.00001
|
|
NM_000171.4(GLRA1):c.22C>T (p.Arg8Ter)
|
rs1296531416
|
0.00001
|
|
NM_000171.4(GLRA1):c.284A>C (p.Gln95Pro)
|
rs1131691474
|
0.00001
|
|
NM_000171.4(GLRA1):c.292G>A (p.Asp98Asn)
|
rs760390019
|
0.00001
|
|
NM_000171.4(GLRA1):c.299G>A (p.Arg100His)
|
rs281864914
|
0.00001
|
|
NM_000171.4(GLRA1):c.300C>T (p.Arg100=)
|
rs1172371698
|
0.00001
|
|
NM_000171.4(GLRA1):c.306C>T (p.Ala102=)
|
rs774085354
|
0.00001
|
|
NM_000171.4(GLRA1):c.31C>A (p.Leu11Ile)
|
rs750512870
|
0.00001
|
|
NM_000171.4(GLRA1):c.325G>A (p.Asp109Asn)
|
rs1310413185
|
0.00001
|
|
NM_000171.4(GLRA1):c.342C>A (p.Asp114Glu)
|
rs1224142581
|
0.00001
|
|
NM_000171.4(GLRA1):c.347C>A (p.Ser116Tyr)
|
rs775032574
|
0.00001
|
|
NM_000171.4(GLRA1):c.378G>A (p.Leu126=)
|
rs747286269
|
0.00001
|
|
NM_000171.4(GLRA1):c.378del (p.Phe127fs)
|
rs750107200
|
0.00001
|
|
NM_000171.4(GLRA1):c.385G>A (p.Ala129Thr)
|
rs867853750
|
0.00001
|
|
NM_000171.4(GLRA1):c.42C>A (p.Thr14=)
|
rs572343839
|
0.00001
|
|
NM_000171.4(GLRA1):c.44T>C (p.Ile15Thr)
|
rs769117123
|
0.00001
|
|
NM_000171.4(GLRA1):c.473T>C (p.Ile158Thr)
|
rs371331129
|
0.00001
|
|
NM_000171.4(GLRA1):c.476+5G>T
|
rs766221222
|
0.00001
|
|
NM_000171.4(GLRA1):c.480C>T (p.Ile160=)
|
rs1413107798
|
0.00001
|
|
NM_000171.4(GLRA1):c.483C>G (p.Thr161=)
|
rs773246071
|
0.00001
|
|
NM_000171.4(GLRA1):c.517T>C (p.Phe173Leu)
|
rs746144414
|
0.00001
|
|
NM_000171.4(GLRA1):c.520C>T (p.Pro174Ser)
|
rs774560550
|
0.00001
|
|
NM_000171.4(GLRA1):c.523A>G (p.Met175Val)
|
rs121918414
|
0.00001
|
|
NM_000171.4(GLRA1):c.525G>A (p.Met175Ile)
|
rs1341348939
|
0.00001
|
|
NM_000171.4(GLRA1):c.536C>T (p.Thr179Ile)
|
rs372452903
|
0.00001
|
|
NM_000171.4(GLRA1):c.537A>C (p.Thr179=)
|
rs770339430
|
0.00001
|
|
NM_000171.4(GLRA1):c.542T>A (p.Ile181Asn)
|
rs780795063
|
0.00001
|
|
NM_000171.4(GLRA1):c.559+12G>A
|
rs779606455
|
0.00001
|
|
NM_000171.4(GLRA1):c.559+5G>A
|
rs1186139441
|
0.00001
|
|
NM_000171.4(GLRA1):c.56+5G>A
|
rs373393975
|
0.00001
|
|
NM_000171.4(GLRA1):c.569C>T (p.Thr190Met)
|
rs781570584
|
0.00001
|
|
NM_000171.4(GLRA1):c.570G>A (p.Thr190=)
|
rs768174352
|
0.00001
|
|
NM_000171.4(GLRA1):c.604G>C (p.Gly202Arg)
|
rs1295407167
|
0.00001
|
|
NM_000171.4(GLRA1):c.605G>A (p.Gly202Glu)
|
rs750242262
|
0.00001
|
|
NM_000171.4(GLRA1):c.664G>A (p.Asp222Asn)
|
rs1446144797
|
0.00001
|
|
NM_000171.4(GLRA1):c.697+9A>C
|
rs886060280
|
0.00001
|
|
NM_000171.4(GLRA1):c.698-9T>C
|
rs1166224628
|
0.00001
|
|
NM_000171.4(GLRA1):c.721C>T (p.Arg241Trp)
|
rs776919102
|
0.00001
|
|
NM_000171.4(GLRA1):c.747T>C (p.Gly249=)
|
rs1441470047
|
0.00001
|
|
NM_000171.4(GLRA1):c.836C>T (p.Ala279Val)
|
rs900189503
|
0.00001
|
|
NM_000171.4(GLRA1):c.839G>A (p.Arg280His)
|
rs281864918
|
0.00001
|
|
NM_000171.4(GLRA1):c.872T>C (p.Met291Thr)
|
rs1314623901
|
0.00001
|
|
NM_000171.4(GLRA1):c.889G>A (p.Gly297Ser)
|
rs1561556166
|
0.00001
|
|
NM_000171.4(GLRA1):c.895C>T (p.Arg299Ter)
|
rs757488419
|
0.00001
|
|
NM_000171.4(GLRA1):c.913-12C>A
|
rs1420894866
|
0.00001
|
|
NM_000171.4(GLRA1):c.913-8C>A
|
rs768129276
|
0.00001
|
|
NM_000171.4(GLRA1):c.92C>T (p.Ser31Phe)
|
rs200171902
|
0.00001
|
|
NM_000171.4(GLRA1):c.958C>A (p.Leu320Ile)
|
rs1235266841
|
0.00001
|
|
NM_000171.4(GLRA1):c.971C>A (p.Ser324Ter)
|
rs121918418
|
0.00001
|
|
NM_000171.4(GLRA1):c.972A>G (p.Ser324=)
|
rs762554462
|
0.00001
|
|
NM_000171.4(GLRA1):c.994G>A (p.Val332Ile)
|
rs1468001309
|
0.00001
|
|
NM_000824.5(GLRB):c.1037A>G (p.Glu346Gly)
|
rs758939135
|
0.00001
|
|
NM_000824.5(GLRB):c.1129G>T (p.Gly377Cys)
|
rs1483255844
|
0.00001
|
|
NM_000824.5(GLRB):c.123-7C>T
|
rs1029530397
|
0.00001
|
|
NM_000824.5(GLRB):c.1230T>C (p.Thr410=)
|
rs1235842918
|
0.00001
|
|
NM_000824.5(GLRB):c.1285G>A (p.Asp429Asn)
|
rs1302907815
|
0.00001
|
|
NM_000824.5(GLRB):c.132A>C (p.Ser44=)
|
rs778930746
|
0.00001
|
|
NM_000824.5(GLRB):c.1339G>A (p.Gly447Arg)
|
rs765649743
|
0.00001
|
|
NM_000824.5(GLRB):c.1380C>T (p.Pro460=)
|
rs548604111
|
0.00001
|
|
NM_000824.5(GLRB):c.1386G>A (p.Ala462=)
|
rs771819827
|
0.00001
|
|
NM_000824.5(GLRB):c.1414C>A (p.Arg472=)
|
rs570886685
|
0.00001
|
|
NM_000824.5(GLRB):c.1466A>G (p.Asn489Ser)
|
rs964531745
|
0.00001
|
|
NM_000824.5(GLRB):c.149G>T (p.Arg50Leu)
|
rs746978405
|
0.00001
|
|
NM_000824.5(GLRB):c.210G>A (p.Arg70=)
|
rs1440659826
|
0.00001
|
|
NM_000824.5(GLRB):c.229+15T>C
|
rs761155149
|
0.00001
|
|
NM_000824.5(GLRB):c.250G>A (p.Val84Ile)
|
rs1223991119
|
0.00001
|
|
NM_000824.5(GLRB):c.297+7T>C
|
rs769096368
|
0.00001
|
|
NM_000824.5(GLRB):c.298-20C>T
|
rs779389511
|
0.00001
|
|
NM_000824.5(GLRB):c.307G>A (p.Val103Ile)
|
rs1303450282
|
0.00001
|
|
NM_000824.5(GLRB):c.335A>T (p.Asn112Ile)
|
rs1228266830
|
0.00001
|
|
NM_000824.5(GLRB):c.453C>G (p.Ala151=)
|
rs372401049
|
0.00001
|
|
NM_000824.5(GLRB):c.481A>T (p.Ile161Phe)
|
rs1306303890
|
0.00001
|
|
NM_000824.5(GLRB):c.511G>A (p.Val171Ile)
|
rs138787100
|
0.00001
|
|
NM_000824.5(GLRB):c.610+7A>C
|
rs758829852
|
0.00001
|
|
NM_000824.5(GLRB):c.627T>A (p.Asp209Glu)
|
rs527904761
|
0.00001
|
|
NM_000824.5(GLRB):c.634C>T (p.Arg212Ter)
|
rs373790643
|
0.00001
|
|
NM_000824.5(GLRB):c.653G>A (p.Gly218Glu)
|
rs146321769
|
0.00001
|
|
NM_000824.5(GLRB):c.668T>C (p.Leu223Ser)
|
rs761443255
|
0.00001
|
|
NM_000824.5(GLRB):c.692T>C (p.Phe231Ser)
|
rs763516130
|
0.00001
|
|
NM_000824.5(GLRB):c.713T>C (p.Ile238Thr)
|
rs752853387
|
0.00001
|
|
NM_000824.5(GLRB):c.722G>A (p.Gly241Asp)
|
rs981353015
|
0.00001
|
|
NM_000824.5(GLRB):c.752-15G>A
|
rs1297406909
|
0.00001
|
|
NM_000824.5(GLRB):c.766G>A (p.Val256Met)
|
rs144334540
|
0.00001
|
|
NM_000824.5(GLRB):c.798C>T (p.Val266=)
|
rs148773767
|
0.00001
|
|
NM_000824.5(GLRB):c.853T>G (p.Trp285Gly)
|
rs368298200
|
0.00001
|
|
NM_000824.5(GLRB):c.914C>T (p.Ser305Leu)
|
rs1024033857
|
0.00001
|
|
NM_000824.5(GLRB):c.97A>G (p.Lys33Glu)
|
rs749901389
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1022G>A (p.Arg341His)
|
rs1556347347
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1036G>A (p.Val346Ile)
|
rs1556347281
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1077+13C>G
|
rs782189949
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1078-3T>C
|
rs1409374479
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1088G>A (p.Arg363Gln)
|
rs1556335112
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1116C>T (p.Arg372=)
|
rs1556334992
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1194C>T (p.Ala398=)
|
rs1556334802
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1245G>A (p.Lys415=)
|
rs781947373
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1257A>G (p.Glu419=)
|
rs1556334685
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1322-17A>T
|
rs782417263
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1391-12C>T
|
rs2047417425
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1391-5T>C
|
rs1181371428
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1391-7A>G
|
rs1602145711
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1409C>T (p.Ser470Leu)
|
rs782206262
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1434G>A (p.Pro478=)
|
rs782705959
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1474G>A (p.Gly492Ser)
|
rs1365914320
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1480G>A (p.Ala494Thr)
|
rs1556301016
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1482T>C (p.Ala494=)
|
rs782665661
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1506C>T (p.Thr502=)
|
rs782129771
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1518C>T (p.Arg506=)
|
rs782806516
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.248C>T (p.Pro83Leu)
|
rs1556402117
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.252C>T (p.Ser84=)
|
rs1367866917
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.264C>T (p.Asn88=)
|
rs782671712
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.29T>C (p.Met10Thr)
|
rs1421919089
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.30+20G>A
|
rs1556464456
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.31-10G>T
|
rs782313914
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.31-16C>T
|
rs782420279
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.319C>T (p.Arg107Trp)
|
rs1556401755
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.366G>A (p.Glu122=)
|
rs781834665
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.403-19G>A
|
rs782062229
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.408T>C (p.Tyr136=)
|
rs782079969
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.421C>T (p.Arg141Trp)
|
rs782001294
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.425A>G (p.Lys142Arg)
|
rs782145415
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.432G>A (p.Arg144=)
|
rs781937951
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.442A>G (p.Ser148Gly)
|
rs1394345886
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.451C>A (p.Gln151Lys)
|
rs781955551
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.52G>A (p.Val18Ile)
|
rs1556415925
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.639G>A (p.Met213Ile)
|
rs1384182085
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.667C>T (p.Arg223Cys)
|
rs782139620
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.668G>A (p.Arg223His)
|
rs1556365349
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.720T>C (p.Ile240=)
|
rs1556365249
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.726C>T (p.Ile242=)
|
rs1556365224
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.727G>A (p.Asp243Asn)
|
rs782266558
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.759C>A (p.Ile253=)
|
rs782598343
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.76C>T (p.His26Tyr)
|
rs1569491711
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.92A>G (p.Asn31Ser)
|
rs1431530716
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.946-19C>A
|
rs1159447904
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.948C>T (p.Gly316=)
|
rs141158169
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.95G>A (p.Arg32Gln)
|
rs782244025
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.972G>A (p.Ser324=)
|
rs1556347447
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1026G>A (p.Lys342=)
|
rs368128242
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1031C>T (p.Ser344Leu)
|
rs371937657
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1032G>A (p.Ser344=)
|
rs758648041
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1058A>G (p.Asn353Ser)
|
rs775370118
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1087G>A (p.Ala363Thr)
|
rs750861694
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1170C>T (p.Gly390=)
|
rs369546941
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1171G>A (p.Glu391Lys)
|
rs752068841
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1192C>G (p.Leu398Val)
|
rs756401575
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1260+16T>C
|
rs1852813438
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1261G>T (p.Val421Leu)
|
rs1853001659
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1266G>A (p.Val422=)
|
rs766480639
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1275G>A (p.Thr425=)
|
rs371391494
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1280C>T (p.Thr427Met)
|
rs1421208814
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1316G>A (p.Arg439Gln)
|
rs1321205817
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1426T>A (p.Phe476Ile)
|
rs1853033716
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1430del (p.Ser477fs)
|
rs767695215
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1470T>C (p.Ser490=)
|
rs1027077568
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1499+13A>G
|
rs370366356
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1533C>T (p.Ala511=)
|
rs368623393
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1621C>T (p.Gln541Ter)
|
rs931802079
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1624+9C>T
|
rs745823180
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1636G>T (p.Ala546Ser)
|
rs1291180235
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1640T>C (p.Phe547Ser)
|
rs772652517
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1652C>T (p.Pro551Leu)
|
rs766837791
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1675C>T (p.Leu559Phe)
|
rs764223816
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1704C>T (p.Phe568=)
|
rs1348780417
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1737+3G>A
|
rs1489671252
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1747A>G (p.Ile583Val)
|
rs1380633510
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1760T>G (p.Val587Gly)
|
rs777246131
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1786A>G (p.Lys596Glu)
|
rs1000786095
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1822G>T (p.Gly608Cys)
|
rs1565285393
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1846A>G (p.Met616Val)
|
rs142895058
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1869+10C>T
|
rs757029224
|
0.00001
|
|
NM_004211.5(SLC6A5):c.187C>T (p.Gln63Ter)
|
rs1474968844
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1884G>A (p.Met628Ile)
|
rs979821579
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1902C>T (p.Thr634=)
|
rs755575687
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1913C>T (p.Ser638Phe)
|
rs753023936
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1914C>T (p.Ser638=)
|
rs1240241197
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1926C>T (p.Val642=)
|
rs770858807
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1962T>C (p.Tyr654=)
|
rs751120377
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1969+4A>T
|
rs1476186922
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1994T>C (p.Ile665Thr)
|
rs1384921627
|
0.00001
|
|
NM_004211.5(SLC6A5):c.2070+1G>A
|
rs770660705
|
0.00001
|
|
NM_004211.5(SLC6A5):c.2098T>C (p.Trp700Arg)
|
rs1334126263
|
0.00001
|
|
NM_004211.5(SLC6A5):c.2112C>T (p.Thr704=)
|
rs1251486699
|
0.00001
|
|
NM_004211.5(SLC6A5):c.2115T>C (p.Tyr705=)
|
rs766659746
|
0.00001
|
|
NM_004211.5(SLC6A5):c.2128T>C (p.Tyr710His)
|
rs757209577
|
0.00001
|
|
NM_004211.5(SLC6A5):c.2151C>T (p.Leu717=)
|
rs150429051
|
0.00001
|
|
NM_004211.5(SLC6A5):c.2152G>A (p.Gly718Arg)
|
rs777399866
|
0.00001
|
|
NM_004211.5(SLC6A5):c.2167G>A (p.Ala723Thr)
|
rs749000146
|
0.00001
|
|
NM_004211.5(SLC6A5):c.2176G>A (p.Val726Ile)
|
rs138848148
|
0.00001
|
|
NM_004211.5(SLC6A5):c.2297G>A (p.Arg766His)
|
rs767356503
|
0.00001
|
|
NM_004211.5(SLC6A5):c.2315A>C (p.Asn772Thr)
|
rs746395612
|
0.00001
|
|
NM_004211.5(SLC6A5):c.2362G>A (p.Val788Met)
|
rs774095713
|
0.00001
|
|
NM_004211.5(SLC6A5):c.2366A>G (p.Lys789Arg)
|
rs543307278
|
0.00001
|
|
NM_004211.5(SLC6A5):c.2377C>T (p.Leu793=)
|
rs1341473905
|
0.00001
|
|
NM_004211.5(SLC6A5):c.242A>G (p.Lys81Arg)
|
rs766483394
|
0.00001
|
|
NM_004211.5(SLC6A5):c.269C>T (p.Ala90Val)
|
rs752225272
|
0.00001
|
|
NM_004211.5(SLC6A5):c.27G>A (p.Met9Ile)
|
rs1407334436
|
0.00001
|
|
NM_004211.5(SLC6A5):c.3+20C>T
|
rs777931284
|
0.00001
|
|
NM_004211.5(SLC6A5):c.322C>T (p.Pro108Ser)
|
rs774582809
|
0.00001
|
|
NM_004211.5(SLC6A5):c.325C>G (p.Pro109Ala)
|
rs905521470
|
0.00001
|
|
NM_004211.5(SLC6A5):c.4-11T>C
|
rs774039277
|
0.00001
|
|
NM_004211.5(SLC6A5):c.412A>C (p.Lys138Gln)
|
rs140334751
|
0.00001
|
|
NM_004211.5(SLC6A5):c.45C>T (p.Asn15=)
|
rs779446341
|
0.00001
|
|
NM_004211.5(SLC6A5):c.528C>T (p.Thr176=)
|
rs573629406
|
0.00001
|
|
NM_004211.5(SLC6A5):c.534C>T (p.Ala178=)
|
rs1315392036
|
0.00001
|
|
NM_004211.5(SLC6A5):c.571C>T (p.Arg191Ter)
|
rs376783257
|
0.00001
|
|
NM_004211.5(SLC6A5):c.579C>A (p.Asn193Lys)
|
rs142792084
|
0.00001
|
|
NM_004211.5(SLC6A5):c.621C>T (p.Tyr207=)
|
rs781151093
|
0.00001
|
|
NM_004211.5(SLC6A5):c.655T>C (p.Tyr219His)
|
rs1318357702
|
0.00001
|
|
NM_004211.5(SLC6A5):c.656A>G (p.Tyr219Cys)
|
rs765804820
|
0.00001
|
|
NM_004211.5(SLC6A5):c.661G>A (p.Ala221Thr)
|
rs768135536
|
0.00001
|
|
NM_004211.5(SLC6A5):c.679+3A>G
|
rs1455458043
|
0.00001
|
|
NM_004211.5(SLC6A5):c.683C>A (p.Ala228Asp)
|
rs371265931
|
0.00001
|
|
NM_004211.5(SLC6A5):c.718G>T (p.Ala240Ser)
|
rs749146260
|
0.00001
|
|
NM_004211.5(SLC6A5):c.719C>G (p.Ala240Gly)
|
rs770456450
|
0.00001
|
|
NM_004211.5(SLC6A5):c.812G>T (p.Gly271Val)
|
rs779904394
|
0.00001
|
|
NM_004211.5(SLC6A5):c.813C>T (p.Gly271=)
|
rs1401531960
|
0.00001
|
|
NM_004211.5(SLC6A5):c.822C>T (p.Ile274=)
|
rs776289288
|
0.00001
|
|
NM_004211.5(SLC6A5):c.916C>T (p.Leu306=)
|
rs121908496
|
0.00001
|
|
NM_004211.5(SLC6A5):c.921C>T (p.Pro307=)
|
rs566070819
|
0.00001
|
|
NM_004211.5(SLC6A5):c.929C>T (p.Ser310Phe)
|
rs373186404
|
0.00001
|
|
NM_004211.5(SLC6A5):c.956A>G (p.Glu319Gly)
|
rs182204638
|
0.00001
|
|
NM_004211.5(SLC6A5):c.985+10G>C
|
rs1479664288
|
0.00001
|
|
NC_000004.11:g.(?_157999177)_(157999318_?)dup
|
|
|
|
NC_000004.11:g.(?_157999177)_(158043569_?)dup
|
|
|
|
NC_000004.11:g.(?_157999177)_(158091880_?)dup
|
|
|
|
NC_000004.11:g.(?_158057601)_(158074182_?)dup
|
|
|
|
NC_000004.11:g.(?_158091564)_(158091880_?)del
|
|
|
|
NC_000004.12:g.(?_157170412)_(157170748_?)del
|
|
|
|
NC_000005.10:g.(?_151924474)_(151924569_?)del
|
|
|
|
NC_000005.10:g.151856298CA[3]
|
|
|
|
NC_000005.9:g.(?_150632778)_(151304110_?)dup
|
|
|
|
NC_000005.9:g.(?_151208462)_(151208648_?)del
|
|
|
|
NC_000005.9:g.(?_151230931)_(151304110_?)del
|
|
|
|
NC_000005.9:g.(?_151235842)_(151272019_?)del
|
|
|
|
NC_000005.9:g.(?_151239326)_(151239589_?)del
|
|
|
|
NC_000005.9:g.(?_151266262)_(151266369_?)del
|
|
|
|
NC_000005.9:g.(?_151266262)_(151304110_?)dup
|
|
|
|
NC_000005.9:g.(?_151271852)_(151304110_?)dup
|
|
|
|
NC_000005.9:g.(?_151271852)_(151304130_?)dup
|
|
|
|
NC_000005.9:g.(?_151304035)_(151304110_?)del
|
|
|
|
NC_000005.9:g.(?_151304045)_(151304110_?)dup
|
|
|
|
NC_000011.9:g.(?_20612464)_(20622873_?)del
|
|
|
|
NC_000011.9:g.(?_20617213)_(20623070_?)del
|
|
|
|
NC_000011.9:g.(?_20621219)_(20625990_?)del
|
|
|
|
NC_000011.9:g.(?_20621219)_(20668500_?)del
|
|
|
|
NC_000011.9:g.(?_20621219)_(20676414_?)dup
|
|
|
|
NC_000011.9:g.(?_20625977)_(20687645_?)del
|
|
|
|
NC_000011.9:g.(?_20648234)_(20676414_?)dup
|
|
|
|
NC_000011.9:g.(?_20668360)_(20668500_?)del
|
|
|
|
NC_000011.9:g.(?_20668360)_(20668500_?)dup
|
|
|
|
NC_000011.9:g.(?_20673815)_(20676414_?)del
|
|
|
|
NC_000011.9:g.(?_20673815)_(20676414_?)dup
|
|
|
|
NC_000023.10:g.(?_62857908)_(62863948_?)del
|
|
|
|
NC_000023.10:g.(?_62857908)_(62875637_?)dup
|
|
|
|
NC_000023.10:g.(?_62857908)_(64196257_?)dup
|
|
|
|
NC_000023.10:g.(?_62875354)_(62875637_?)del
|
|
|
|
NC_000023.10:g.(?_62875364)_(62944601_?)del
|
|
|
|
NC_000023.10:g.(?_62893898)_(63005025_?)dup
|
|
|
|
NC_000023.10:g.(?_62944392)_(63005025_?)dup
|
|
|
|
NC_000023.10:g.(?_63004976)_(63413166_?)dup
|
|
|
|
NM_000171.4(GLRA1):c.1001T>C (p.Phe334Ser)
|
|
|
|
NM_000171.4(GLRA1):c.1016A>G (p.His339Arg)
|
|
|
|
NM_000171.4(GLRA1):c.101A>G (p.Lys34Arg)
|
rs1254833783
|
|
|
NM_000171.4(GLRA1):c.1025T>C (p.Leu342Pro)
|
|
|
|
NM_000171.4(GLRA1):c.1028T>C (p.Leu343Pro)
|
rs148221542
|
|
|
NM_000171.4(GLRA1):c.103C>G (p.Pro35Ala)
|
|
|
|
NM_000171.4(GLRA1):c.1045C>T (p.Arg349Trp)
|
rs752071816
|
|
|
NM_000171.4(GLRA1):c.1046G>T (p.Arg349Leu)
|
rs139213838
|
|
|
NM_000171.4(GLRA1):c.104C>T (p.Pro35Leu)
|
|
|
|
NM_000171.4(GLRA1):c.1054C>G (p.His352Asp)
|
|
|
|
NM_000171.4(GLRA1):c.1059+12G>T
|
|
|
|
NM_000171.4(GLRA1):c.1059+14T>C
|
rs1474660982
|
|
|
NM_000171.4(GLRA1):c.1059+15_1059+18dup
|
|
|
|
NM_000171.4(GLRA1):c.1059+18T>G
|
rs763830285
|
|
|
NM_000171.4(GLRA1):c.1059+19G>A
|
|
|
|
NM_000171.4(GLRA1):c.1059+1G>A
|
|
|
|
NM_000171.4(GLRA1):c.1059+7C>A
|
|
|
|
NM_000171.4(GLRA1):c.1059+8T>G
|
|
|
|
NM_000171.4(GLRA1):c.1059G>C (p.Lys353Asn)
|
|
|
|
NM_000171.4(GLRA1):c.1060-10T>A
|
rs2113277422
|
|
|
NM_000171.4(GLRA1):c.1060-20C>T
|
|
|
|
NM_000171.4(GLRA1):c.1060-4C>A
|
rs1581592732
|
|
|
NM_000171.4(GLRA1):c.1060-7A>C
|
|
|
|
NM_000171.4(GLRA1):c.1064A>G (p.Asp355Gly)
|
rs1763180019
|
|
|
NM_000171.4(GLRA1):c.1073G>A (p.Gly358Glu)
|
|
|
|
NM_000171.4(GLRA1):c.1074A>G (p.Gly358=)
|
|
|
|
NM_000171.4(GLRA1):c.1079G>C (p.Gly360Ala)
|
|
|
|
NM_000171.4(GLRA1):c.1101T>A (p.Tyr367Ter)
|
rs758811460
|
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NM_000171.4(GLRA1):c.1115C>A (p.Ala372Asp)
|
|
|
|
NM_000171.4(GLRA1):c.1124A>T (p.Gln375Leu)
|
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|
NM_000171.4(GLRA1):c.112C>A (p.Pro38Thr)
|
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NM_000171.4(GLRA1):c.1132G>T (p.Asp378Tyr)
|
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|
NM_000171.4(GLRA1):c.1134T>C (p.Asp378=)
|
rs763726024
|
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NM_000171.4(GLRA1):c.1136G>A (p.Gly379Asp)
|
rs2113277098
|
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NM_000171.4(GLRA1):c.1139_1162del (p.Ile380_Asn387del)
|
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NM_000171.4(GLRA1):c.1140C>G (p.Ile380Met)
|
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NM_000171.4(GLRA1):c.1142C>T (p.Ser381Leu)
|
rs752407825
|
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NM_000171.4(GLRA1):c.1149G>A (p.Lys383=)
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NM_000171.4(GLRA1):c.1154C>T (p.Ala385Val)
|
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NM_000171.4(GLRA1):c.1157ACA[1] (p.Asn387del)
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NM_000171.4(GLRA1):c.1163G>C (p.Ser388Thr)
|
rs1312246907
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NM_000171.4(GLRA1):c.1174A>T (p.Asn392Tyr)
|
rs775599403
|
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NM_000171.4(GLRA1):c.1176C>T (p.Asn392=)
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NM_000171.4(GLRA1):c.1179C>A (p.Pro393=)
|
rs772443569
|
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NM_000171.4(GLRA1):c.117G>A (p.Ser39=)
|
rs149023945
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NM_000171.4(GLRA1):c.1180C>T (p.Pro394Ser)
|
rs779337812
|
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NM_000171.4(GLRA1):c.1181C>G (p.Pro394Arg)
|
rs62636581
|
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NM_000171.4(GLRA1):c.1181C>T (p.Pro394Leu)
|
rs62636581
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NM_000171.4(GLRA1):c.1204G>A (p.Glu402Lys)
|
rs1471630110
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NM_000171.4(GLRA1):c.1204GAG[1] (p.Glu403del)
|
rs767780037
|
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NM_000171.4(GLRA1):c.1207G>C (p.Glu403Gln)
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NM_000171.4(GLRA1):c.1212G>A (p.Met404Ile)
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NM_000171.4(GLRA1):c.1214G>T (p.Arg405Leu)
|
rs199561280
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NM_000171.4(GLRA1):c.1218A>C (p.Lys406Asn)
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NM_000171.4(GLRA1):c.1226T>A (p.Ile409Asn)
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NM_000171.4(GLRA1):c.1229A>C (p.Gln410Pro)
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NM_000171.4(GLRA1):c.1234G>A (p.Ala412Thr)
|
rs1763171970
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NM_000171.4(GLRA1):c.1237A>G (p.Lys413Glu)
|
rs2113276596
|
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NM_000171.4(GLRA1):c.1239G>A (p.Lys413=)
|
rs2113276577
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NM_000171.4(GLRA1):c.1240A>C (p.Lys414Gln)
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NM_000171.4(GLRA1):c.1245C>T (p.Ile415=)
|
rs759936512
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NM_000171.4(GLRA1):c.1248C>G (p.Asp416Glu)
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NM_000171.4(GLRA1):c.1258C>T (p.Arg420Cys)
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NM_000171.4(GLRA1):c.1262T>C (p.Ile421Thr)
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NM_000171.4(GLRA1):c.1264G>A (p.Gly422Ser)
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NM_000171.4(GLRA1):c.1265G>A (p.Gly422Asp)
|
rs2113276466
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NM_000171.4(GLRA1):c.126G>A (p.Leu42=)
|
rs753072382
|
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NM_000171.4(GLRA1):c.1273A>G (p.Met425Val)
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NM_000171.4(GLRA1):c.1284C>T (p.Leu428=)
|
rs1581592341
|
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NM_000171.4(GLRA1):c.1286T>C (p.Ile429Thr)
|
rs2113276406
|
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NM_000171.4(GLRA1):c.1293C>T (p.Asn431=)
|
rs1763170405
|
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NM_000171.4(GLRA1):c.129T>G (p.Asp43Glu)
|
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NM_000171.4(GLRA1):c.1300T>C (p.Tyr434His)
|
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NM_000171.4(GLRA1):c.1313A>G (p.Tyr438Cys)
|
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NM_000171.4(GLRA1):c.1316A>G (p.Lys439Arg)
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NM_000171.4(GLRA1):c.1321G>A (p.Val441Ile)
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NM_000171.4(GLRA1):c.1324C>T (p.Arg442Cys)
|
rs750346568
|
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NM_000171.4(GLRA1):c.1336G>A (p.Val446Ile)
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NM_000171.4(GLRA1):c.1337T>C (p.Val446Ala)
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NM_000171.4(GLRA1):c.1341C>A (p.His447Gln)
|
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NM_000171.4(GLRA1):c.137T>A (p.Met46Lys)
|
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NM_000171.4(GLRA1):c.139G>A (p.Gly47Arg)
|
rs759998394
|
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NM_000171.4(GLRA1):c.147C>G (p.Thr49=)
|
rs1754099297
|
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NM_000171.4(GLRA1):c.162C>T (p.Ala54=)
|
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NM_000171.4(GLRA1):c.164G>C (p.Arg55Thr)
|
rs1561574547
|
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NM_000171.4(GLRA1):c.184+11T>G
|
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NM_000171.4(GLRA1):c.184+12A>T
|
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NM_000171.4(GLRA1):c.184+14T>G
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NM_000171.4(GLRA1):c.184+19C>A
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NM_000171.4(GLRA1):c.184+1G>A
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NM_000171.4(GLRA1):c.184+4G>A
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NM_000171.4(GLRA1):c.184+6G>A
|
rs1754097765
|
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NM_000171.4(GLRA1):c.184+6G>C
|
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NM_000171.4(GLRA1):c.185-15T>C
|
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NM_000171.4(GLRA1):c.185-7T>C
|
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NM_000171.4(GLRA1):c.186dup (p.Pro63fs)
|
rs1753918029
|
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NM_000171.4(GLRA1):c.18T>A (p.Thr6=)
|
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NM_000171.4(GLRA1):c.191C>T (p.Pro64Leu)
|
rs2113407376
|
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NM_000171.4(GLRA1):c.194T>G (p.Val65Gly)
|
rs2113407361
|
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NM_000171.4(GLRA1):c.198C>G (p.Asn66Lys)
|
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NM_000171.4(GLRA1):c.1A>G (p.Met1Val)
|
rs1754962750
|
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NM_000171.4(GLRA1):c.204C>T (p.Ser68=)
|
|
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NM_000171.4(GLRA1):c.229G>T (p.Gly77Cys)
|
rs761410250
|
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NM_000171.4(GLRA1):c.236T>C (p.Ile79Thr)
|
rs1554085896
|
|
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NM_000171.4(GLRA1):c.252+17A>G
|
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NM_000171.4(GLRA1):c.252+3G>A
|
rs1581645103
|
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NM_000171.4(GLRA1):c.253-18_253-16del
|
rs376416020
|
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NM_000171.4(GLRA1):c.253-8G>C
|
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NM_000171.4(GLRA1):c.253-9T>C
|
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NM_000171.4(GLRA1):c.258_260del (p.Tyr86_Arg87delinsTer)
|
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NM_000171.4(GLRA1):c.266A>G (p.Asn89Ser)
|
rs2113359473
|
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NM_000171.4(GLRA1):c.274C>T (p.Leu92=)
|
|
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|
NM_000171.4(GLRA1):c.277C>A (p.Arg93=)
|
rs199547699
|
|
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NM_000171.4(GLRA1):c.277C>T (p.Arg93Trp)
|
rs199547699
|
|
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NM_000171.4(GLRA1):c.278G>A (p.Arg93Gln)
|
|
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NM_000171.4(GLRA1):c.278G>T (p.Arg93Leu)
|
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|
NM_000171.4(GLRA1):c.286T>C (p.Trp96Arg)
|
rs2113359417
|
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NM_000171.4(GLRA1):c.291C>T (p.Asn97=)
|
|
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|
NM_000171.4(GLRA1):c.298C>T (p.Arg100Cys)
|
|
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NM_000171.4(GLRA1):c.298del (p.Arg100fs)
|
rs281864915
|
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NM_000171.4(GLRA1):c.2T>G (p.Met1Arg)
|
|
|
|
NM_000171.4(GLRA1):c.30C>T (p.Tyr10=)
|
rs1297899786
|
|
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NM_000171.4(GLRA1):c.311A>G (p.Asn104Ser)
|
|
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|
NM_000171.4(GLRA1):c.329C>G (p.Ser110Cys)
|
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|
NM_000171.4(GLRA1):c.335A>C (p.Asp112Ala)
|
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NM_000171.4(GLRA1):c.337C>G (p.Leu113Val)
|
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NM_000171.4(GLRA1):c.33T>C (p.Leu11=)
|
rs1754960207
|
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NM_000171.4(GLRA1):c.346T>A (p.Ser116Thr)
|
rs932099226
|
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NM_000171.4(GLRA1):c.35G>C (p.Trp12Ser)
|
|
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|
NM_000171.4(GLRA1):c.360C>A (p.Ser120=)
|
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|
NM_000171.4(GLRA1):c.365G>A (p.Trp122Ter)
|
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|
|
NM_000171.4(GLRA1):c.36G>C (p.Trp12Cys)
|
rs1064797316
|
|
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NM_000171.4(GLRA1):c.376del (p.Leu126fs)
|
rs2113359152
|
|
|
NM_000171.4(GLRA1):c.378G>T (p.Leu126=)
|
rs747286269
|
|
|
NM_000171.4(GLRA1):c.381dup (p.Phe128fs)
|
|
|
|
NM_000171.4(GLRA1):c.39G>A (p.Glu13=)
|
rs141704405
|
|
|
NM_000171.4(GLRA1):c.39G>C (p.Glu13Asp)
|
rs141704405
|
|
|
NM_000171.4(GLRA1):c.3G>T (p.Met1Ile)
|
rs1174467547
|
|
|
NM_000171.4(GLRA1):c.405C>A (p.His135Gln)
|
|
|
|
NM_000171.4(GLRA1):c.40A>G (p.Thr14Ala)
|
|
|
|
NM_000171.4(GLRA1):c.415del (p.Ile139fs)
|
|
|
|
NM_000171.4(GLRA1):c.41C>T (p.Thr14Ile)
|
|
|
|
NM_000171.4(GLRA1):c.423A>G (p.Thr141=)
|
rs1425567448
|
|
|
NM_000171.4(GLRA1):c.429C>T (p.Asn143=)
|
rs1253160169
|
|
|
NM_000171.4(GLRA1):c.42C>T (p.Thr14=)
|
|
|
|
NM_000171.4(GLRA1):c.435G>A (p.Leu145=)
|
|
|
|
NM_000171.4(GLRA1):c.436C>A (p.Leu146Ile)
|
rs2113358962
|
|
|
NM_000171.4(GLRA1):c.442A>G (p.Ile148Val)
|
|
|
|
NM_000171.4(GLRA1):c.449G>C (p.Arg150Pro)
|
rs561848502
|
|
|
NM_000171.4(GLRA1):c.459T>C (p.Asn153=)
|
rs575951950
|
|
|
NM_000171.4(GLRA1):c.45T>C (p.Ile15=)
|
rs760969146
|
|
|
NM_000171.4(GLRA1):c.461T>A (p.Val154Asp)
|
|
|
|
NM_000171.4(GLRA1):c.468C>T (p.Tyr156=)
|
rs2113358884
|
|
|
NM_000171.4(GLRA1):c.469A>G (p.Ser157Gly)
|
rs1561560166
|
|
|
NM_000171.4(GLRA1):c.471C>T (p.Ser157=)
|
rs2113358874
|
|
|
NM_000171.4(GLRA1):c.476+10G>C
|
rs557783325
|
|
|
NM_000171.4(GLRA1):c.476+20A>G
|
|
|
|
NM_000171.4(GLRA1):c.476+6T>A
|
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|
NM_000171.4(GLRA1):c.477-13C>T
|
|
|
|
NM_000171.4(GLRA1):c.477-14C>T
|
|
|
|
NM_000171.4(GLRA1):c.477-15C>T
|
|
|
|
NM_000171.4(GLRA1):c.47T>C (p.Val16Ala)
|
|
|
|
NM_000171.4(GLRA1):c.490C>T (p.Leu164=)
|
|
|
|
NM_000171.4(GLRA1):c.49T>C (p.Phe17Leu)
|
rs1754959178
|
|
|
NM_000171.4(GLRA1):c.49TTC[1] (p.Phe18del)
|
|
|
|
NM_000171.4(GLRA1):c.4T>C (p.Tyr2His)
|
rs778643926
|
|
|
NM_000171.4(GLRA1):c.500C>T (p.Pro167Leu)
|
rs2113352246
|
|
|
NM_000171.4(GLRA1):c.502A>G (p.Met168Val)
|
|
|
|
NM_000171.4(GLRA1):c.51C>T (p.Phe17=)
|
rs2113471944
|
|
|
NM_000171.4(GLRA1):c.528T>A (p.Asp176Glu)
|
|
|
|
NM_000171.4(GLRA1):c.536C>A (p.Thr179Lys)
|
|
|
|
NM_000171.4(GLRA1):c.537dup (p.Cys180fs)
|
|
|
|
NM_000171.4(GLRA1):c.543C>G (p.Ile181Met)
|
rs1753041280
|
|
|
NM_000171.4(GLRA1):c.549A>C (p.Gln183His)
|
rs1554083905
|
|
|
NM_000171.4(GLRA1):c.54C>T (p.Phe18=)
|
rs1754958953
|
|
|
NM_000171.4(GLRA1):c.550C>G (p.Leu184Val)
|
rs2113352064
|
|
|
NM_000171.4(GLRA1):c.559+16G>C
|
|
|
|
NM_000171.4(GLRA1):c.559+18G>C
|
|
|
|
NM_000171.4(GLRA1):c.559+19T>C
|
|
|
|
NM_000171.4(GLRA1):c.559+6T>A
|
|
|
|
NM_000171.4(GLRA1):c.560-15C>T
|
|
|
|
NM_000171.4(GLRA1):c.560-16T>C
|
|
|
|
NM_000171.4(GLRA1):c.560-1G>C
|
rs748908505
|
|
|
NM_000171.4(GLRA1):c.560-4C>G
|
rs2113350145
|
|
|
NM_000171.4(GLRA1):c.560-8C>T
|
rs1391710473
|
|
|
NM_000171.4(GLRA1):c.560-9C>G
|
rs1303387683
|
|
|
NM_000171.4(GLRA1):c.560-9C>T
|
|
|
|
NM_000171.4(GLRA1):c.564A>G (p.Gly188=)
|
|
|
|
NM_000171.4(GLRA1):c.569C>G (p.Thr190Arg)
|
|
|
|
NM_000171.4(GLRA1):c.57-14C>G
|
|
|
|
NM_000171.4(GLRA1):c.57-15T>C
|
|
|
|
NM_000171.4(GLRA1):c.57-16CT[2]
|
|
|
|
NM_000171.4(GLRA1):c.572T>C (p.Met191Thr)
|
|
|
|
NM_000171.4(GLRA1):c.578A>T (p.Asp193Val)
|
|
|
|
NM_000171.4(GLRA1):c.589G>A (p.Glu197Lys)
|
|
|
|
NM_000171.4(GLRA1):c.5A>G (p.Tyr2Cys)
|
|
|
|
NM_000171.4(GLRA1):c.600A>T (p.Glu200Asp)
|
rs1192986592
|
|
|
NM_000171.4(GLRA1):c.608C>A (p.Ala203Asp)
|
rs980887652
|
|
|
NM_000171.4(GLRA1):c.610G>A (p.Val204Met)
|
rs1554083817
|
|
|
NM_000171.4(GLRA1):c.613C>T (p.Gln205Ter)
|
|
|
|
NM_000171.4(GLRA1):c.617T>G (p.Val206Gly)
|
rs1581619756
|
|
|
NM_000171.4(GLRA1):c.621A>C (p.Ala207=)
|
|
|
|
NM_000171.4(GLRA1):c.624T>C (p.Asp208=)
|
|
|
|
NM_000171.4(GLRA1):c.631A>C (p.Thr211Pro)
|
|
|
|
NM_000171.4(GLRA1):c.634_635del (p.Leu212fs)
|
rs765708068
|
|
|
NM_000171.4(GLRA1):c.65_79del (p.Ala22_Ala26del)
|
|
|
|
NM_000171.4(GLRA1):c.680_681delinsAA (p.Thr227Lys)
|
|
|
|
NM_000171.4(GLRA1):c.681C>A (p.Thr227=)
|
|
|
|
NM_000171.4(GLRA1):c.68C>T (p.Ser23Phe)
|
|
|
|
NM_000171.4(GLRA1):c.690C>A (p.Tyr230Ter)
|
rs121918415
|
|
|
NM_000171.4(GLRA1):c.690C>T (p.Tyr230=)
|
|
|
|
NM_000171.4(GLRA1):c.697+17C>T
|
|
|
|
NM_000171.4(GLRA1):c.697+1G>A
|
rs1753002738
|
|
|
NM_000171.4(GLRA1):c.697+2T>A
|
|
|
|
NM_000171.4(GLRA1):c.697+8C>A
|
rs1753002579
|
|
|
NM_000171.4(GLRA1):c.698-2del
|
rs1752914673
|
|
|
NM_000171.4(GLRA1):c.699T>A (p.Gly233=)
|
|
|
|
NM_000171.4(GLRA1):c.699T>C (p.Gly233=)
|
|
|
|
NM_000171.4(GLRA1):c.708del (p.Cys237fs)
|
|
|
|
NM_000171.4(GLRA1):c.719C>T (p.Ala240Val)
|
|
|
|
NM_000171.4(GLRA1):c.720C>T (p.Ala240=)
|
|
|
|
NM_000171.4(GLRA1):c.725del (p.Phe242fs)
|
|
|
|
NM_000171.4(GLRA1):c.737G>A (p.Arg246Gln)
|
rs281864916
|
|
|
NM_000171.4(GLRA1):c.753C>T (p.Tyr251=)
|
rs770544327
|
|
|
NM_000171.4(GLRA1):c.767A>G (p.Tyr256Cys)
|
|
|
|
NM_000171.4(GLRA1):c.770T>C (p.Ile257Thr)
|
rs1752910323
|
|
|
NM_000171.4(GLRA1):c.772C>T (p.Pro258Ser)
|
|
|
|
NM_000171.4(GLRA1):c.774C>G (p.Pro258=)
|
|
|
|
NM_000171.4(GLRA1):c.778C>A (p.Leu260Met)
|
rs2113343595
|
|
|
NM_000171.4(GLRA1):c.786T>C (p.Ile262=)
|
rs2113343560
|
|
|
NM_000171.4(GLRA1):c.793C>T (p.Leu265Phe)
|
rs1554083597
|
|
|
NM_000171.4(GLRA1):c.798A>C (p.Ser266=)
|
rs1581616753
|
|
|
NM_000171.4(GLRA1):c.798A>G (p.Ser266=)
|
rs1581616753
|
|
|
NM_000171.4(GLRA1):c.7A>G (p.Ser3Gly)
|
rs2113472081
|
|
|
NM_000171.4(GLRA1):c.801G>T (p.Trp267Cys)
|
|
|
|
NM_000171.4(GLRA1):c.805T>C (p.Ser269Pro)
|
|
|
|
NM_000171.4(GLRA1):c.807C>T (p.Ser269=)
|
|
|
|
NM_000171.4(GLRA1):c.827C>A (p.Ala276Asp)
|
|
|
|
NM_000171.4(GLRA1):c.843G>A (p.Val281=)
|
|
|
|
NM_000171.4(GLRA1):c.845G>A (p.Gly282Asp)
|
rs1581616673
|
|
|
NM_000171.4(GLRA1):c.845G>T (p.Gly282Val)
|
rs1581616673
|
|
|
NM_000171.4(GLRA1):c.848T>C (p.Leu283Pro)
|
|
|
|
NM_000171.4(GLRA1):c.854T>C (p.Ile285Thr)
|
rs1561556213
|
|
|
NM_000171.4(GLRA1):c.855_872del (p.Ile285_Thr290del)
|
rs1188392402
|
|
|
NM_000171.4(GLRA1):c.859A>G (p.Thr287Ala)
|
rs1554083576
|
|
|
NM_000171.4(GLRA1):c.85G>T (p.Ala29Ser)
|
rs1554086308
|
|
|
NM_000171.4(GLRA1):c.869C>T (p.Thr290Ile)
|
rs1064795411
|
|
|
NM_000171.4(GLRA1):c.876C>G (p.Thr292=)
|
|
|
|
NM_000171.4(GLRA1):c.879C>G (p.Thr293=)
|
|
|
|
NM_000171.4(GLRA1):c.888C>A (p.Ser296=)
|
rs192326771
|
|
|
NM_000171.4(GLRA1):c.889G>C (p.Gly297Arg)
|
rs1561556166
|
|
|
NM_000171.4(GLRA1):c.896G>A (p.Arg299Gln)
|
rs121918408
|
|
|
NM_000171.4(GLRA1):c.896G>T (p.Arg299Leu)
|
rs121918408
|
|
|
NM_000171.4(GLRA1):c.912+10A>T
|
rs1047432199
|
|
|
NM_000171.4(GLRA1):c.912+11T>C
|
|
|
|
NM_000171.4(GLRA1):c.912+11_912+12insCTC
|
rs2113343212
|
|
|
NM_000171.4(GLRA1):c.912+12T>C
|
|
|
|
NM_000171.4(GLRA1):c.912+7C>T
|
rs2113343240
|
|
|
NM_000171.4(GLRA1):c.912+8_912+9insTGCCGGCTCTCGAG
|
rs2113343234
|
|
|
NM_000171.4(GLRA1):c.913-16del
|
|
|
|
NM_000171.4(GLRA1):c.913-19T>G
|
|
|
|
NM_000171.4(GLRA1):c.913-1G>A
|
|
|
|
NM_000171.4(GLRA1):c.913-5T>C
|
|
|
|
NM_000171.4(GLRA1):c.913-6dup
|
rs2113290193
|
|
|
NM_000171.4(GLRA1):c.913-8C>T
|
rs768129276
|
|
|
NM_000171.4(GLRA1):c.913-8dup
|
|
|
|
NM_000171.4(GLRA1):c.917C>A (p.Ser306Tyr)
|
rs2113290161
|
|
|
NM_000171.4(GLRA1):c.920A>G (p.Tyr307Cys)
|
rs121918410
|
|
|
NM_000171.4(GLRA1):c.921del (p.Ser306_Tyr307insTer)
|
rs281864921
|
|
|
NM_000171.4(GLRA1):c.932T>C (p.Ile311Thr)
|
|
|
|
NM_000171.4(GLRA1):c.936C>T (p.Asp312=)
|
rs1217083281
|
|
|
NM_000171.4(GLRA1):c.937A>G (p.Ile313Val)
|
rs1346802411
|
|
|
NM_000171.4(GLRA1):c.942G>C (p.Trp314Cys)
|
rs867618642
|
|
|
NM_000171.4(GLRA1):c.943A>T (p.Met315Leu)
|
|
|
|
NM_000171.4(GLRA1):c.951T>G (p.Val317=)
|
|
|
|
NM_000171.4(GLRA1):c.953G>T (p.Cys318Phe)
|
|
|
|
NM_000171.4(GLRA1):c.981A>T (p.Leu327Phe)
|
|
|
|
NM_000171.4(GLRA1):c.985T>C (p.Tyr329His)
|
|
|
|
NM_000171.4(GLRA1):c.990T>C (p.Ala330=)
|
|
|
|
NM_000171.4(GLRA1):c.991_1000del (p.Ala331fs)
|
|
|
|
NM_000171.4(GLRA1):c.99C>A (p.Pro33=)
|
|
|
|
NM_000171.4(GLRA1):c.99dup (p.Lys34fs)
|
|
|
|
NM_000824.5(GLRB):c.1002T>G (p.Ile334Met)
|
|
|
|
NM_000824.5(GLRB):c.1004C>T (p.Ala335Val)
|
rs2126602597
|
|
|
NM_000824.5(GLRB):c.1017T>G (p.Phe339Leu)
|
|
|
|
NM_000824.5(GLRB):c.1020G>A (p.Gly340=)
|
rs1302379622
|
|
|
NM_000824.5(GLRB):c.1026T>C (p.Ala342=)
|
|
|
|
NM_000824.5(GLRB):c.1028C>T (p.Ser343Phe)
|
rs1294827561
|
|
|
NM_000824.5(GLRB):c.1029C>T (p.Ser343=)
|
|
|
|
NM_000824.5(GLRB):c.1039T>G (p.Tyr347Asp)
|
|
|
|
NM_000824.5(GLRB):c.1067A>G (p.Asn356Ser)
|
|
|
|
NM_000824.5(GLRB):c.1070_1078del (p.Pro357_Val360delinsLeu)
|
|
|
|
NM_000824.5(GLRB):c.1074A>G (p.Lys358=)
|
|
|
|
NM_000824.5(GLRB):c.1077G>A (p.Arg359=)
|
|
|
|
NM_000824.5(GLRB):c.1081G>A (p.Glu361Lys)
|
rs748518342
|
|
|
NM_000824.5(GLRB):c.1111G>A (p.Glu371Lys)
|
|
|
|
NM_000824.5(GLRB):c.1172C>T (p.Thr391Ile)
|
rs2126603042
|
|
|
NM_000824.5(GLRB):c.1177G>C (p.Val393Leu)
|
|
|
|
NM_000824.5(GLRB):c.1194G>T (p.Leu398Phe)
|
rs1579244595
|
|
|
NM_000824.5(GLRB):c.1197+14T>C
|
|
|
|
NM_000824.5(GLRB):c.1197+14_1197+16del
|
|
|
|
NM_000824.5(GLRB):c.1197+4A>T
|
rs1007979267
|
|
|
NM_000824.5(GLRB):c.1197+5G>T
|
|
|
|
NM_000824.5(GLRB):c.1198-12A>G
|
|
|
|
NM_000824.5(GLRB):c.1198-14A>G
|
|
|
|
NM_000824.5(GLRB):c.1198-15A>T
|
rs2126637455
|
|
|
NM_000824.5(GLRB):c.1198-1G>A
|
|
|
|
NM_000824.5(GLRB):c.1198-4T>C
|
|
|
|
NM_000824.5(GLRB):c.1198-5C>T
|
|
|
|
NM_000824.5(GLRB):c.122+12A>G
|
|
|
|
NM_000824.5(GLRB):c.122+16C>G
|
|
|
|
NM_000824.5(GLRB):c.122+3A>G
|
rs2126409223
|
|
|
NM_000824.5(GLRB):c.1221dup (p.Val408fs)
|
rs746631259
|
|
|
NM_000824.5(GLRB):c.123-14TC[3]
|
rs2126530317
|
|
|
NM_000824.5(GLRB):c.123-16_123-14del
|
rs1735775884
|
|
|
NM_000824.5(GLRB):c.123-2A>G
|
rs1415892964
|
|
|
NM_000824.5(GLRB):c.1245G>A (p.Leu415=)
|
|
|
|
NM_000824.5(GLRB):c.1248A>G (p.Arg416=)
|
|
|
|
NM_000824.5(GLRB):c.1271G>T (p.Gly424Val)
|
rs2126637682
|
|
|
NM_000824.5(GLRB):c.1274G>A (p.Ser425Asn)
|
|
|
|
NM_000824.5(GLRB):c.127C>G (p.Gln43Glu)
|
rs1296050660
|
|
|
NM_000824.5(GLRB):c.1281A>C (p.Pro427=)
|
|
|
|
NM_000824.5(GLRB):c.1285G>C (p.Asp429His)
|
rs1302907815
|
|
|
NM_000824.5(GLRB):c.1286A>G (p.Asp429Gly)
|
|
|
|
NM_000824.5(GLRB):c.1294C>A (p.Leu432Ile)
|
|
|
|
NM_000824.5(GLRB):c.1318A>C (p.Lys440Gln)
|
|
|
|
NM_000824.5(GLRB):c.1324A>G (p.Ile442Val)
|
|
|
|
NM_000824.5(GLRB):c.1347G>A (p.Gly449=)
|
|
|
|
NM_000824.5(GLRB):c.1353T>C (p.Ser451=)
|
|
|
|
NM_000824.5(GLRB):c.1359T>C (p.Ala453=)
|
|
|
|
NM_000824.5(GLRB):c.135A>G (p.Ala45=)
|
|
|
|
NM_000824.5(GLRB):c.1365CAA[1] (p.Asn456del)
|
rs373895476
|
|
|
NM_000824.5(GLRB):c.1371G>C (p.Lys457Asn)
|
rs2126637895
|
|
|
NM_000824.5(GLRB):c.1375C>G (p.Pro459Ala)
|
rs1737883762
|
|
|
NM_000824.5(GLRB):c.1378C>T (p.Pro460Ser)
|
|
|
|
NM_000824.5(GLRB):c.1380_1382del (p.Pro461del)
|
rs1324660332
|
|
|
NM_000824.5(GLRB):c.1381C>A (p.Pro461Thr)
|
rs749199686
|
|
|
NM_000824.5(GLRB):c.1385C>G (p.Ala462Gly)
|
rs148031091
|
|
|
NM_000824.5(GLRB):c.1385C>T (p.Ala462Val)
|
rs148031091
|
|
|
NM_000824.5(GLRB):c.1389A>G (p.Lys463=)
|
|
|
|
NM_000824.5(GLRB):c.1390C>A (p.Pro464Thr)
|
rs2126637962
|
|
|
NM_000824.5(GLRB):c.1399C>T (p.Pro467Ser)
|
rs1312932259
|
|
|
NM_000824.5(GLRB):c.1405G>A (p.Ala469Thr)
|
|
|
|
NM_000824.5(GLRB):c.1410A>G (p.Ala470=)
|
|
|
|
NM_000824.5(GLRB):c.1414C>T (p.Arg472Ter)
|
|
|
|
NM_000824.5(GLRB):c.1417A>G (p.Ile473Val)
|
|
|
|
NM_000824.5(GLRB):c.1424T>C (p.Leu475Pro)
|
|
|
|
NM_000824.5(GLRB):c.1428T>A (p.Tyr476Ter)
|
rs763395384
|
|
|
NM_000824.5(GLRB):c.1431_1452dup (p.Phe485fs)
|
rs948239172
|
|
|
NM_000824.5(GLRB):c.1448del (p.Phe483fs)
|
rs2126638125
|
|
|
NM_000824.5(GLRB):c.144T>A (p.Leu48=)
|
rs2126530450
|
|
|
NM_000824.5(GLRB):c.1452C>T (p.Cys484=)
|
|
|
|
NM_000824.5(GLRB):c.1456T>G (p.Leu486Val)
|
rs2126638141
|
|
|
NM_000824.5(GLRB):c.1468_1470del (p.Val490del)
|
|
|
|
NM_000824.5(GLRB):c.1473A>T (p.Ile491=)
|
|
|
|
NM_000824.5(GLRB):c.1478G>C (p.Trp493Ser)
|
|
|
|
NM_000824.5(GLRB):c.1479G>T (p.Trp493Cys)
|
rs2126638209
|
|
|
NM_000824.5(GLRB):c.15G>A (p.Leu5=)
|
|
|
|
NM_000824.5(GLRB):c.186_197del (p.Arg62_Val65del)
|
|
|
|
NM_000824.5(GLRB):c.190T>C (p.Leu64=)
|
|
|
|
NM_000824.5(GLRB):c.212T>G (p.Ile71Arg)
|
rs2126530646
|
|
|
NM_000824.5(GLRB):c.215G>A (p.Arg72Lys)
|
|
|
|
NM_000824.5(GLRB):c.226A>C (p.Lys76Gln)
|
rs1735782307
|
|
|
NM_000824.5(GLRB):c.228A>G (p.Lys76=)
|
|
|
|
NM_000824.5(GLRB):c.229+12C>T
|
|
|
|
NM_000824.5(GLRB):c.229G>C (p.Gly77Arg)
|
|
|
|
NM_000824.5(GLRB):c.22G>C (p.Ala8Pro)
|
|
|
|
NM_000824.5(GLRB):c.230-12T>A
|
|
|
|
NM_000824.5(GLRB):c.230-14A>C
|
|
|
|
NM_000824.5(GLRB):c.230-14A>T
|
|
|
|
NM_000824.5(GLRB):c.230-17T>A
|
|
|
|
NM_000824.5(GLRB):c.230-17T>C
|
|
|
|
NM_000824.5(GLRB):c.230-20T>A
|
|
|
|
NM_000824.5(GLRB):c.242A>G (p.Asp81Gly)
|
rs748982851
|
|
|
NM_000824.5(GLRB):c.242A>T (p.Asp81Val)
|
|
|
|
NM_000824.5(GLRB):c.24del (p.Phe9_Leu10insTer)
|
rs1380139789
|
|
|
NM_000824.5(GLRB):c.252C>G (p.Val84=)
|
|
|
|
NM_000824.5(GLRB):c.255C>T (p.Asn85=)
|
|
|
|
NM_000824.5(GLRB):c.272T>C (p.Phe91Ser)
|
rs2126534815
|
|
|
NM_000824.5(GLRB):c.281_282delinsGC (p.Ile94Ser)
|
|
|
|
NM_000824.5(GLRB):c.284A>G (p.Gln95Arg)
|
|
|
|
NM_000824.5(GLRB):c.290C>T (p.Thr97Ile)
|
|
|
|
NM_000824.5(GLRB):c.297+12A>G
|
|
|
|
NM_000824.5(GLRB):c.297+17T>C
|
|
|
|
NM_000824.5(GLRB):c.297+1G>T
|
rs771465893
|
|
|
NM_000824.5(GLRB):c.298-15G>T
|
|
|
|
NM_000824.5(GLRB):c.298-16T>C
|
|
|
|
NM_000824.5(GLRB):c.298-19G>A
|
rs371067472
|
|
|
NM_000824.5(GLRB):c.298-19G>T
|
rs371067472
|
|
|
NM_000824.5(GLRB):c.298-7dup
|
|
|
|
NM_000824.5(GLRB):c.323G>C (p.Arg108Thr)
|
rs2126565958
|
|
|
NM_000824.5(GLRB):c.325C>A (p.Gln109Lys)
|
rs1736404014
|
|
|
NM_000824.5(GLRB):c.331T>C (p.Trp111Arg)
|
rs2126565988
|
|
|
NM_000824.5(GLRB):c.344G>T (p.Arg115Met)
|
|
|
|
NM_000824.5(GLRB):c.34T>G (p.Leu12Val)
|
rs1734101642
|
|
|
NM_000824.5(GLRB):c.354C>T (p.Leu118=)
|
|
|
|
NM_000824.5(GLRB):c.366T>C (p.Phe122=)
|
|
|
|
NM_000824.5(GLRB):c.369G>A (p.Arg123=)
|
rs757163799
|
|
|
NM_000824.5(GLRB):c.371del (p.Gly124fs)
|
rs2126566107
|
|
|
NM_000824.5(GLRB):c.409T>C (p.Cys137Arg)
|
|
|
|
NM_000824.5(GLRB):c.415T>A (p.Trp139Arg)
|
|
|
|
NM_000824.5(GLRB):c.420A>G (p.Lys140=)
|
|
|
|
NM_000824.5(GLRB):c.436G>A (p.Ala146Thr)
|
|
|
|
NM_000824.5(GLRB):c.441T>C (p.Asn147=)
|
|
|
|
NM_000824.5(GLRB):c.444A>G (p.Glu148=)
|
|
|
|
NM_000824.5(GLRB):c.448dup (p.Ser150fs)
|
rs1560962569
|
|
|
NM_000824.5(GLRB):c.449del (p.Ser150fs)
|
|
|
|
NM_000824.5(GLRB):c.451G>A (p.Ala151Thr)
|
|
|
|
NM_000824.5(GLRB):c.45G>A (p.Leu15=)
|
rs775265167
|
|
|
NM_000824.5(GLRB):c.465T>C (p.Asp155=)
|
rs2126566483
|
|
|
NM_000824.5(GLRB):c.472del (p.Gln158fs)
|
rs1560962636
|
|
|
NM_000824.5(GLRB):c.480C>T (p.Asn160=)
|
|
|
|
NM_000824.5(GLRB):c.482T>A (p.Ile161Asn)
|
|
|
|
NM_000824.5(GLRB):c.489C>G (p.Leu163=)
|
|
|
|
NM_000824.5(GLRB):c.49G>A (p.Val17Met)
|
rs760529205
|
|
|
NM_000824.5(GLRB):c.49G>T (p.Val17Leu)
|
|
|
|
NM_000824.5(GLRB):c.500G>T (p.Arg167Leu)
|
|
|
|
NM_000824.5(GLRB):c.523A>C (p.Met175Leu)
|
|
|
|
NM_000824.5(GLRB):c.527+12T>A
|
rs2126566733
|
|
|
NM_000824.5(GLRB):c.527+18A>G
|
|
|
|
NM_000824.5(GLRB):c.528-12T>C
|
|
|
|
NM_000824.5(GLRB):c.528-12T>G
|
|
|
|
NM_000824.5(GLRB):c.528-17C>T
|
|
|
|
NM_000824.5(GLRB):c.528-18A>G
|
|
|
|
NM_000824.5(GLRB):c.528-8G>A
|
|
|
|
NM_000824.5(GLRB):c.528-8G>T
|
|
|
|
NM_000824.5(GLRB):c.531A>G (p.Leu177=)
|
|
|
|
NM_000824.5(GLRB):c.538A>G (p.Thr180Ala)
|
rs2126567060
|
|
|
NM_000824.5(GLRB):c.540T>G (p.Thr180=)
|
|
|
|
NM_000824.5(GLRB):c.544T>C (p.Ser182Pro)
|
rs2126567087
|
|
|
NM_000824.5(GLRB):c.54A>G (p.Glu18=)
|
|
|
|
NM_000824.5(GLRB):c.551C>T (p.Pro184Leu)
|
|
|
|
NM_000824.5(GLRB):c.564A>T (p.Thr188=)
|
|
|
|
NM_000824.5(GLRB):c.565T>C (p.Leu189=)
|
rs2126567165
|
|
|
NM_000824.5(GLRB):c.567G>C (p.Leu189Phe)
|
rs752345500
|
|
|
NM_000824.5(GLRB):c.567G>T (p.Leu189Phe)
|
rs752345500
|
|
|
NM_000824.5(GLRB):c.573C>T (p.Pro191=)
|
|
|
|
NM_000824.5(GLRB):c.586C>T (p.Arg196Cys)
|
rs975522417
|
|
|
NM_000824.5(GLRB):c.59C>T (p.Ala20Val)
|
rs2126408955
|
|
|
NM_000824.5(GLRB):c.600A>G (p.Gln200=)
|
rs2126567257
|
|
|
NM_000824.5(GLRB):c.60C>T (p.Ala20=)
|
|
|
|
NM_000824.5(GLRB):c.610+15A>T
|
|
|
|
NM_000824.5(GLRB):c.610+17A>C
|
|
|
|
NM_000824.5(GLRB):c.610+17A>G
|
|
|
|
NM_000824.5(GLRB):c.610+26_610+27insTTGAAATGAGAACATAATTGATT
|
|
|
|
NM_000824.5(GLRB):c.610+4C>T
|
|
|
|
NM_000824.5(GLRB):c.611-10T>C
|
|
|
|
NM_000824.5(GLRB):c.611-14G>T
|
|
|
|
NM_000824.5(GLRB):c.611-18A>G
|
|
|
|
NM_000824.5(GLRB):c.613G>A (p.Gly205Ser)
|
|
|
|
NM_000824.5(GLRB):c.618C>G (p.Tyr206Ter)
|
|
|
|
NM_000824.5(GLRB):c.619A>G (p.Thr207Ala)
|
|
|
|
NM_000824.5(GLRB):c.620C>T (p.Thr207Ile)
|
|
|
|
NM_000824.5(GLRB):c.621A>G (p.Thr207=)
|
|
|
|
NM_000824.5(GLRB):c.648G>A (p.Gln216=)
|
rs2126571916
|
|
|
NM_000824.5(GLRB):c.655G>A (p.Asp219Asn)
|
|
|
|
NM_000824.5(GLRB):c.66T>C (p.Ser22=)
|
|
|
|
NM_000824.5(GLRB):c.684G>A (p.Leu228=)
|
|
|
|
NM_000824.5(GLRB):c.690A>G (p.Gln230=)
|
|
|
|
NM_000824.5(GLRB):c.693T>C (p.Phe231=)
|
|
|
|
NM_000824.5(GLRB):c.695A>G (p.Asp232Gly)
|
|
|
|
NM_000824.5(GLRB):c.697A>G (p.Ile233Val)
|
|
|
|
NM_000824.5(GLRB):c.698T>C (p.Ile233Thr)
|
|
|
|
NM_000824.5(GLRB):c.6G>A (p.Lys2=)
|
|
|
|
NM_000824.5(GLRB):c.701A>G (p.Lys234Arg)
|
|
|
|
NM_000824.5(GLRB):c.704del (p.Lys235fs)
|
|
|
|
NM_000824.5(GLRB):c.718T>C (p.Tyr240His)
|
|
|
|
NM_000824.5(GLRB):c.719A>G (p.Tyr240Cys)
|
rs2126572276
|
|
|
NM_000824.5(GLRB):c.741T>C (p.Tyr247=)
|
|
|
|
NM_000824.5(GLRB):c.745G>A (p.Gly249Ser)
|
rs1174129188
|
|
|
NM_000824.5(GLRB):c.749C>G (p.Thr250Arg)
|
rs968303695
|
|
|
NM_000824.5(GLRB):c.750G>C (p.Thr250=)
|
|
|
|
NM_000824.5(GLRB):c.751+11T>C
|
rs746886538
|
|
|
NM_000824.5(GLRB):c.751+13C>G
|
|
|
|
NM_000824.5(GLRB):c.751+14T>C
|
|
|
|
NM_000824.5(GLRB):c.752-13T>C
|
rs2126583381
|
|
|
NM_000824.5(GLRB):c.752-4A>G
|
|
|
|
NM_000824.5(GLRB):c.752-6T>C
|
rs2126583392
|
|
|
NM_000824.5(GLRB):c.756C>G (p.Tyr252Ter)
|
|
|
|
NM_000824.5(GLRB):c.762del (p.Cys255fs)
|
|
|
|
NM_000824.5(GLRB):c.777C>A (p.Ile259=)
|
rs2126583488
|
|
|
NM_000824.5(GLRB):c.782C>T (p.Thr261Ile)
|
rs2126583509
|
|
|
NM_000824.5(GLRB):c.784C>G (p.Leu262Val)
|
|
|
|
NM_000824.5(GLRB):c.798_800delinsGATGATGGGGGT (p.Gly267delinsMetMetGlyVal)
|
rs1553998291
|
|
|
NM_000824.5(GLRB):c.807C>T (p.Tyr269=)
|
|
|
|
NM_000824.5(GLRB):c.816G>T (p.Gly272=)
|
|
|
|
NM_000824.5(GLRB):c.831= (p.Thr277=)
|
|
|
|
NM_000824.5(GLRB):c.837C>G (p.Leu279=)
|
|
|
|
NM_000824.5(GLRB):c.841GTT[1] (p.Val282del)
|
|
|
|
NM_000824.5(GLRB):c.844G>T (p.Val282Phe)
|
|
|
|
NM_000824.5(GLRB):c.846T>C (p.Val282=)
|
rs2126583832
|
|
|
NM_000824.5(GLRB):c.848T>C (p.Leu283Pro)
|
rs1736709198
|
|
|
NM_000824.5(GLRB):c.849C>T (p.Leu283=)
|
|
|
|
NM_000824.5(GLRB):c.84del (p.Lys31fs)
|
|
|
|
NM_000824.5(GLRB):c.861C>T (p.Ser287=)
|
|
|
|
NM_000824.5(GLRB):c.876G>A (p.Pro292=)
|
|
|
|
NM_000824.5(GLRB):c.879C>T (p.Asp293=)
|
|
|
|
NM_000824.5(GLRB):c.881C>T (p.Ala294Val)
|
|
|
|
NM_000824.5(GLRB):c.8T>A (p.Phe3Tyr)
|
|
|
|
NM_000824.5(GLRB):c.904+15G>A
|
|
|
|
NM_000824.5(GLRB):c.904+4A>G
|
rs76714257
|
|
|
NM_000824.5(GLRB):c.904+4A>T
|
rs76714257
|
|
|
NM_000824.5(GLRB):c.904G>A (p.Gly302Ser)
|
|
|
|
NM_000824.5(GLRB):c.905-16C>T
|
|
|
|
NM_000824.5(GLRB):c.905-3T>C
|
|
|
|
NM_000824.5(GLRB):c.909C>T (p.Ile303=)
|
|
|
|
NM_000824.5(GLRB):c.918C>T (p.Val306=)
|
|
|
|
NM_000824.5(GLRB):c.924C>T (p.Ser308=)
|
|
|
|
NM_000824.5(GLRB):c.930C>T (p.Ala310=)
|
|
|
|
NM_000824.5(GLRB):c.931T>C (p.Ser311Pro)
|
|
|
|
NM_000824.5(GLRB):c.945C>A (p.Thr315=)
|
rs747493770
|
|
|
NM_000824.5(GLRB):c.945C>G (p.Thr315=)
|
rs747493770
|
|
|
NM_000824.5(GLRB):c.945C>T (p.Thr315=)
|
rs747493770
|
|
|
NM_000824.5(GLRB):c.951C>G (p.Ala317=)
|
rs748373061
|
|
|
NM_000824.5(GLRB):c.951C>T (p.Ala317=)
|
rs748373061
|
|
|
NM_000824.5(GLRB):c.961C>T (p.Pro321Ser)
|
rs1737073395
|
|
|
NM_000824.5(GLRB):c.96G>A (p.Gly32=)
|
|
|
|
NM_000824.5(GLRB):c.974A>G (p.Tyr325Cys)
|
|
|
|
NM_001318369.2(SLC6A5):c.-24+2623_-24+2637del
|
rs756181145
|
|
|
NM_001353921.2(ARHGEF9):c.1009C>G (p.Gln337Glu)
|
|
|
|
NM_001353921.2(ARHGEF9):c.100T>C (p.Leu34=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1016A>G (p.Tyr339Cys)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1020C>T (p.Gly340=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1021C>T (p.Arg341Cys)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1022G>T (p.Arg341Leu)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1025A>G (p.Asn342Ser)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1029G>A (p.Gln343=)
|
rs2049510920
|
|
|
NM_001353921.2(ARHGEF9):c.1030C>T (p.Gln344Ter)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1031A>G (p.Gln344Arg)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1033C>T (p.Arg345Trp)
|
rs869312941
|
|
|
NM_001353921.2(ARHGEF9):c.1049T>G (p.Phe350Cys)
|
rs2147265726
|
|
|
NM_001353921.2(ARHGEF9):c.1056C>T (p.His352=)
|
rs370689173
|
|
|
NM_001353921.2(ARHGEF9):c.1077+10C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.1077+18T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.1077+19T>G
|
rs2147265464
|
|
|
NM_001353921.2(ARHGEF9):c.1077+5C>T
|
rs2049507995
|
|
|
NM_001353921.2(ARHGEF9):c.1077+7C>G
|
rs2147265578
|
|
|
NM_001353921.2(ARHGEF9):c.1077+8T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.1078-11_1078-8del
|
|
|
|
NM_001353921.2(ARHGEF9):c.1078-13C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.1078-18C>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.1078-18C>T
|
rs781901799
|
|
|
NM_001353921.2(ARHGEF9):c.1095C>T (p.Asp365=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1096A>G (p.Ile366Val)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1107C>T (p.Tyr369=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1114C>T (p.Arg372Cys)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1115G>A (p.Arg372His)
|
rs2048831313
|
|
|
NM_001353921.2(ARHGEF9):c.1122C>T (p.Asp374=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1126G>T (p.Asp376Tyr)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1126_1128dup (p.Asp376dup)
|
rs2048830256
|
|
|
NM_001353921.2(ARHGEF9):c.1144G>A (p.Asp382Asn)
|
rs2048829340
|
|
|
NM_001353921.2(ARHGEF9):c.1146C>A (p.Asp382Glu)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1149T>G (p.Ile383Met)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1150G>T (p.Glu384Ter)
|
rs2147218558
|
|
|
NM_001353921.2(ARHGEF9):c.1157G>A (p.Gly386Asp)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1158C>A (p.Gly386=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.117C>G (p.Gly39=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.117C>T (p.Gly39=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1180A>C (p.Ser394Arg)
|
rs2048827604
|
|
|
NM_001353921.2(ARHGEF9):c.1184T>C (p.Met395Thr)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1193C>T (p.Ala398Val)
|
rs2048826532
|
|
|
NM_001353921.2(ARHGEF9):c.1203T>G (p.Leu401=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1206C>T (p.His402=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1208A>G (p.Asn403Ser)
|
rs2147218280
|
|
|
NM_001353921.2(ARHGEF9):c.1209C>G (p.Asn403Lys)
|
|
|
|
NM_001353921.2(ARHGEF9):c.120C>T (p.Asp40=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.121G>A (p.Val41Ile)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1233G>A (p.Leu411=)
|
rs2147218180
|
|
|
NM_001353921.2(ARHGEF9):c.1248G>T (p.Lys416Asn)
|
rs2048824581
|
|
|
NM_001353921.2(ARHGEF9):c.124A>G (p.Ile42Val)
|
rs2053845797
|
|
|
NM_001353921.2(ARHGEF9):c.1251G>A (p.Leu417=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1269G>A (p.Trp423Ter)
|
|
|
|
NM_001353921.2(ARHGEF9):c.126C>T (p.Ile42=)
|
rs2147624145
|
|
|
NM_001353921.2(ARHGEF9):c.1276G>T (p.Ala426Ser)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1294A>G (p.Lys432Glu)
|
rs1569441733
|
|
|
NM_001353921.2(ARHGEF9):c.1300G>T (p.Val434Leu)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1321+16G>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.1321+18A>G
|
|
|
|
NM_001353921.2(ARHGEF9):c.1321+5G>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.1322-10T>C
|
rs2147143891
|
|
|
NM_001353921.2(ARHGEF9):c.1322-10del
|
|
|
|
NM_001353921.2(ARHGEF9):c.1322-19A>G
|
|
|
|
NM_001353921.2(ARHGEF9):c.1322G>T (p.Gly441Val)
|
rs2147143865
|
|
|
NM_001353921.2(ARHGEF9):c.1326T>A (p.Phe442Leu)
|
rs2147143845
|
|
|
NM_001353921.2(ARHGEF9):c.1354G>C (p.Ala452Pro)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1362G>T (p.Met454Ile)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1378C>T (p.Pro460Ser)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1389A>G (p.Lys463=)
|
rs1602179094
|
|
|
NM_001353921.2(ARHGEF9):c.1390+13C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.1391-14C>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.1391-16C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.1397A>G (p.Asn466Ser)
|
rs2147114917
|
|
|
NM_001353921.2(ARHGEF9):c.13A>G (p.Arg5Gly)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1403C>A (p.Ala468Asp)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1403C>T (p.Ala468Val)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1405C>T (p.Arg469Cys)
|
rs1556301404
|
|
|
NM_001353921.2(ARHGEF9):c.1406G>A (p.Arg469His)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1409C>G (p.Ser470Ter)
|
rs782206262
|
|
|
NM_001353921.2(ARHGEF9):c.1417C>T (p.Pro473Ser)
|
rs2147114796
|
|
|
NM_001353921.2(ARHGEF9):c.1420T>C (p.Ser474Pro)
|
rs1556301359
|
|
|
NM_001353921.2(ARHGEF9):c.1423dup (p.Tyr475fs)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1435C>T (p.Gln479Ter)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1442C>T (p.Pro481Leu)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1443G>T (p.Pro481=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1448A>G (p.Asn483Ser)
|
rs2147114604
|
|
|
NM_001353921.2(ARHGEF9):c.1453G>A (p.Gly485Ser)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1458G>A (p.Gln486=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.145A>G (p.Asn49Asp)
|
rs2053844904
|
|
|
NM_001353921.2(ARHGEF9):c.1470C>T (p.Pro490=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1473C>A (p.Asp491Glu)
|
rs374753195
|
|
|
NM_001353921.2(ARHGEF9):c.1473C>T (p.Asp491=)
|
rs374753195
|
|
|
NM_001353921.2(ARHGEF9):c.1492G>A (p.Val498Ile)
|
rs2147114206
|
|
|
NM_001353921.2(ARHGEF9):c.1497T>C (p.Phe499=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1497T>G (p.Phe499Leu)
|
rs2147114173
|
|
|
NM_001353921.2(ARHGEF9):c.1500G>T (p.Glu500Asp)
|
rs2147114132
|
|
|
NM_001353921.2(ARHGEF9):c.1517G>A (p.Arg506His)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1533C>G (p.Phe511Leu)
|
rs1556300785
|
|
|
NM_001353921.2(ARHGEF9):c.1536G>A (p.Trp512Ter)
|
rs1556300769
|
|
|
NM_001353921.2(ARHGEF9):c.1540A>C (p.Asn514His)
|
rs1556300759
|
|
|
NM_001353921.2(ARHGEF9):c.1548C>T (p.Ser516=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1551G>A (p.Arg517=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1561T>C (p.Phe521Leu)
|
rs2047401810
|
|
|
NM_001353921.2(ARHGEF9):c.166C>A (p.Gln56Lys)
|
rs781823638
|
|
|
NM_001353921.2(ARHGEF9):c.172G>A (p.Asp58Asn)
|
|
|
|
NM_001353921.2(ARHGEF9):c.172G>C (p.Asp58His)
|
rs374489713
|
|
|
NM_001353921.2(ARHGEF9):c.174C>T (p.Asp58=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.180G>A (p.Glu60=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.198C>T (p.Ala66=)
|
rs1602577401
|
|
|
NM_001353921.2(ARHGEF9):c.1A>G (p.Met1Val)
|
rs2147835608
|
|
|
NM_001353921.2(ARHGEF9):c.211-13C>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.211-5C>T
|
rs1569481993
|
|
|
NM_001353921.2(ARHGEF9):c.216G>A (p.Trp72Ter)
|
|
|
|
NM_001353921.2(ARHGEF9):c.219G>A (p.Val73=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.227A>G (p.Glu76Gly)
|
|
|
|
NM_001353921.2(ARHGEF9):c.234G>A (p.Glu78=)
|
rs868932053
|
|
|
NM_001353921.2(ARHGEF9):c.237G>C (p.Val79=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.23C>T (p.Ser8Leu)
|
|
|
|
NM_001353921.2(ARHGEF9):c.240G>T (p.Glu80Asp)
|
|
|
|
NM_001353921.2(ARHGEF9):c.243G>A (p.Glu81=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.248C>A (p.Pro83His)
|
|
|
|
NM_001353921.2(ARHGEF9):c.249C>T (p.Pro83=)
|
rs2147508633
|
|
|
NM_001353921.2(ARHGEF9):c.24G>C (p.Ser8=)
|
rs1413001108
|
|
|
NM_001353921.2(ARHGEF9):c.256G>A (p.Val86Met)
|
|
|
|
NM_001353921.2(ARHGEF9):c.256G>T (p.Val86Leu)
|
|
|
|
NM_001353921.2(ARHGEF9):c.25G>C (p.Gly9Arg)
|
|
|
|
NM_001353921.2(ARHGEF9):c.270C>A (p.His90Gln)
|
|
|
|
NM_001353921.2(ARHGEF9):c.270C>T (p.His90=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.271C>A (p.Leu91Met)
|
|
|
|
NM_001353921.2(ARHGEF9):c.281A>G (p.Asn94Ser)
|
rs886044863
|
|
|
NM_001353921.2(ARHGEF9):c.285A>G (p.Ser95=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.296G>C (p.Cys99Ser)
|
|
|
|
NM_001353921.2(ARHGEF9):c.30+10T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.30+16C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.30+9A>C
|
rs2147835548
|
|
|
NM_001353921.2(ARHGEF9):c.304C>T (p.Arg102Trp)
|
|
|
|
NM_001353921.2(ARHGEF9):c.308C>A (p.Pro103Gln)
|
|
|
|
NM_001353921.2(ARHGEF9):c.309A>G (p.Pro103=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.31-29577C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.31-29579C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.31-29588A>G
|
rs2055839126
|
|
|
NM_001353921.2(ARHGEF9):c.31-29588_31-29587del
|
rs782126971
|
|
|
NM_001353921.2(ARHGEF9):c.31-5C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.31-6C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.313C>G (p.Gln105Glu)
|
rs2052542875
|
|
|
NM_001353921.2(ARHGEF9):c.31C>A (p.Leu11Met)
|
rs2053850779
|
|
|
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
|
|
|
|
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln)
|
rs1556401714
|
|
|
NM_001353921.2(ARHGEF9):c.336C>T (p.Ala112=)
|
rs2147507989
|
|
|
NM_001353921.2(ARHGEF9):c.368G>A (p.Arg123His)
|
rs868956996
|
|
|
NM_001353921.2(ARHGEF9):c.384C>T (p.His128=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.402+15T>C
|
rs2147507524
|
|
|
NM_001353921.2(ARHGEF9):c.402+20T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.402+8T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.403-12C>G
|
|
|
|
NM_001353921.2(ARHGEF9):c.403-13dup
|
|
|
|
NM_001353921.2(ARHGEF9):c.403-17T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.403-3C>T
|
rs1602447219
|
|
|
NM_001353921.2(ARHGEF9):c.411G>A (p.Leu137=)
|
rs2147451122
|
|
|
NM_001353921.2(ARHGEF9):c.414G>A (p.Lys138=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.422G>A (p.Arg141Gln)
|
|
|
|
NM_001353921.2(ARHGEF9):c.434A>T (p.Asp145Val)
|
|
|
|
NM_001353921.2(ARHGEF9):c.438G>A (p.Met146Ile)
|
|
|
|
NM_001353921.2(ARHGEF9):c.443G>A (p.Ser148Asn)
|
|
|
|
NM_001353921.2(ARHGEF9):c.476T>C (p.Ile159Thr)
|
|
|
|
NM_001353921.2(ARHGEF9):c.488A>T (p.Tyr163Phe)
|
rs2051815541
|
|
|
NM_001353921.2(ARHGEF9):c.499A>G (p.Met167Val)
|
rs2147450532
|
|
|
NM_001353921.2(ARHGEF9):c.503G>A (p.Gly168Asp)
|
|
|
|
NM_001353921.2(ARHGEF9):c.514G>T (p.Asp172Tyr)
|
|
|
|
NM_001353921.2(ARHGEF9):c.519G>A (p.Leu173=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.544C>T (p.Pro182Ser)
|
rs2051812917
|
|
|
NM_001353921.2(ARHGEF9):c.556G>A (p.Glu186Lys)
|
rs1602446549
|
|
|
NM_001353921.2(ARHGEF9):c.564A>G (p.Gly188=)
|
rs782187939
|
|
|
NM_001353921.2(ARHGEF9):c.569G>A (p.Cys190Tyr)
|
|
|
|
NM_001353921.2(ARHGEF9):c.578A>G (p.Glu193Gly)
|
rs1556388997
|
|
|
NM_001353921.2(ARHGEF9):c.582+10T>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.582+10_582+14del
|
rs1556388923
|
|
|
NM_001353921.2(ARHGEF9):c.582+18T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.582+1G>A
|
rs1569476483
|
|
|
NM_001353921.2(ARHGEF9):c.583-11dup
|
rs782366734
|
|
|
NM_001353921.2(ARHGEF9):c.583-13del
|
|
|
|
NM_001353921.2(ARHGEF9):c.583-14T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.583-17T>G
|
rs2147334936
|
|
|
NM_001353921.2(ARHGEF9):c.632C>T (p.Ala211Val)
|
rs2147334711
|
|
|
NM_001353921.2(ARHGEF9):c.635G>T (p.Cys212Phe)
|
|
|
|
NM_001353921.2(ARHGEF9):c.643C>T (p.Leu215Phe)
|
|
|
|
NM_001353921.2(ARHGEF9):c.652C>G (p.Leu218Val)
|
rs2050412325
|
|
|
NM_001353921.2(ARHGEF9):c.660G>A (p.Lys220=)
|
rs2147334626
|
|
|
NM_001353921.2(ARHGEF9):c.66A>G (p.Ala22=)
|
rs2147624503
|
|
|
NM_001353921.2(ARHGEF9):c.688G>A (p.Ala230Thr)
|
|
|
|
NM_001353921.2(ARHGEF9):c.694C>T (p.Arg232Cys)
|
rs2147334395
|
|
|
NM_001353921.2(ARHGEF9):c.703C>G (p.Gln235Glu)
|
rs2050408893
|
|
|
NM_001353921.2(ARHGEF9):c.727G>T (p.Asp243Tyr)
|
rs782266558
|
|
|
NM_001353921.2(ARHGEF9):c.735C>T (p.Phe245=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.747A>G (p.Pro249=)
|
rs369716500
|
|
|
NM_001353921.2(ARHGEF9):c.761G>A (p.Cys254Tyr)
|
|
|
|
NM_001353921.2(ARHGEF9):c.766T>C (p.Tyr256His)
|
|
|
|
NM_001353921.2(ARHGEF9):c.775C>G (p.Gln259Glu)
|
|
|
|
NM_001353921.2(ARHGEF9):c.775C>T (p.Gln259Ter)
|
|
|
|
NM_001353921.2(ARHGEF9):c.778T>A (p.Leu260Met)
|
|
|
|
NM_001353921.2(ARHGEF9):c.781G>T (p.Ala261Ser)
|
rs782497496
|
|
|
NM_001353921.2(ARHGEF9):c.788T>C (p.Leu263Pro)
|
rs1602360899
|
|
|
NM_001353921.2(ARHGEF9):c.79G>A (p.Val27Ile)
|
|
|
|
NM_001353921.2(ARHGEF9):c.811C>T (p.His271Tyr)
|
rs2050403490
|
|
|
NM_001353921.2(ARHGEF9):c.815+10C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.815+18T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.815+5G>C
|
rs56239759
|
|
|
NM_001353921.2(ARHGEF9):c.815+5G>T
|
rs56239759
|
|
|
NM_001353921.2(ARHGEF9):c.815+8A>G
|
rs1464003224
|
|
|
NM_001353921.2(ARHGEF9):c.815+8A>T
|
rs1464003224
|
|
|
NM_001353921.2(ARHGEF9):c.816-10G>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.816-12_816-11del
|
rs781845457
|
|
|
NM_001353921.2(ARHGEF9):c.816-16T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.816-18A>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.816-9T>C
|
rs1057522347
|
|
|
NM_001353921.2(ARHGEF9):c.880C>T (p.Arg294Cys)
|
|
|
|
NM_001353921.2(ARHGEF9):c.886C>A (p.Arg296=)
|
rs1135401795
|
|
|
NM_001353921.2(ARHGEF9):c.886C>T (p.Arg296Ter)
|
rs1135401795
|
|
|
NM_001353921.2(ARHGEF9):c.889C>T (p.Arg297Cys)
|
rs2050115619
|
|
|
NM_001353921.2(ARHGEF9):c.890G>A (p.Arg297His)
|
|
|
|
NM_001353921.2(ARHGEF9):c.901A>G (p.Ile301Val)
|
|
|
|
NM_001353921.2(ARHGEF9):c.915T>C (p.Ala305=)
|
rs782362648
|
|
|
NM_001353921.2(ARHGEF9):c.91A>G (p.Asn31Asp)
|
|
|
|
NM_001353921.2(ARHGEF9):c.922C>T (p.Gln308Ter)
|
rs1569458475
|
|
|
NM_001353921.2(ARHGEF9):c.924G>C (p.Gln308His)
|
|
|
|
NM_001353921.2(ARHGEF9):c.92A>C (p.Asn31Thr)
|
|
|
|
NM_001353921.2(ARHGEF9):c.939C>T (p.Asp313=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.93C>T (p.Asn31=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.942G>A (p.Trp314Ter)
|
rs2147307979
|
|
|
NM_001353921.2(ARHGEF9):c.944A>C (p.Glu315Ala)
|
rs2147307964
|
|
|
NM_001353921.2(ARHGEF9):c.945+5G>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.945G>A (p.Glu315=)
|
rs2050112328
|
|
|
NM_001353921.2(ARHGEF9):c.946-13A>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.946-17T>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.946-18A>G
|
|
|
|
NM_001353921.2(ARHGEF9):c.94C>G (p.Arg32Gly)
|
|
|
|
NM_001353921.2(ARHGEF9):c.961G>C (p.Asp321His)
|
|
|
|
NM_001353921.2(ARHGEF9):c.968G>T (p.Ser323Ile)
|
rs1569451962
|
|
|
NM_001353921.2(ARHGEF9):c.982_983dup (p.Gly330fs)
|
rs2147266023
|
|
|
NM_001353921.2(ARHGEF9):c.986C>A (p.Thr329Asn)
|
|
|
|
NM_004211.5(SLC6A5):c.*2_*9dup (p.Ter798=)
|
rs763561739
|
|
|
NM_004211.5(SLC6A5):c.1010C>A (p.Pro337His)
|
|
|
|
NM_004211.5(SLC6A5):c.1023C>T (p.Ile341=)
|
|
|
|
NM_004211.5(SLC6A5):c.1028A>G (p.Asn343Ser)
|
rs2133784664
|
|
|
NM_004211.5(SLC6A5):c.1035T>G (p.Thr345=)
|
|
|
|
NM_004211.5(SLC6A5):c.103A>G (p.Ser35Gly)
|
|
|
|
NM_004211.5(SLC6A5):c.1042A>C (p.Met348Leu)
|
|
|
|
NM_004211.5(SLC6A5):c.1047C>G (p.Thr349=)
|
|
|
|
NM_004211.5(SLC6A5):c.1052A>G (p.Tyr351Cys)
|
|
|
|
NM_004211.5(SLC6A5):c.1062G>A (p.Val354=)
|
rs1372389585
|
|
|
NM_004211.5(SLC6A5):c.1079C>A (p.Thr360Asn)
|
|
|
|
NM_004211.5(SLC6A5):c.107C>T (p.Pro36Leu)
|
rs2133767771
|
|
|
NM_004211.5(SLC6A5):c.1091A>T (p.Asn364Ile)
|
|
|
|
NM_004211.5(SLC6A5):c.1097C>T (p.Thr366Ile)
|
|
|
|
NM_004211.5(SLC6A5):c.1102G>C (p.Val368Leu)
|
rs2133784829
|
|
|
NM_004211.5(SLC6A5):c.1125C>T (p.Phe375=)
|
|
|
|
NM_004211.5(SLC6A5):c.1127+19T>C
|
|
|
|
NM_004211.5(SLC6A5):c.1127+8G>T
|
|
|
|
NM_004211.5(SLC6A5):c.1128-11C>A
|
rs771874539
|
|
|
NM_004211.5(SLC6A5):c.1128-15C>G
|
rs2133788151
|
|
|
NM_004211.5(SLC6A5):c.1133T>C (p.Phe378Ser)
|
rs1852809256
|
|
|
NM_004211.5(SLC6A5):c.1137G>T (p.Val379=)
|
|
|
|
NM_004211.5(SLC6A5):c.1159G>A (p.Glu387Lys)
|
|
|
|
NM_004211.5(SLC6A5):c.115G>A (p.Glu39Lys)
|
|
|
|
NM_004211.5(SLC6A5):c.1170C>A (p.Gly390=)
|
|
|
|
NM_004211.5(SLC6A5):c.1176C>A (p.Ile392=)
|
rs2133788262
|
|
|
NM_004211.5(SLC6A5):c.1185A>G (p.Pro395=)
|
|
|
|
NM_004211.5(SLC6A5):c.1185A>T (p.Pro395=)
|
|
|
|
NM_004211.5(SLC6A5):c.1189G>A (p.Ala397Thr)
|
rs1555040941
|
|
|
NM_004211.5(SLC6A5):c.1198C>G (p.Leu400Val)
|
|
|
|
NM_004211.5(SLC6A5):c.1222T>C (p.Tyr408His)
|
|
|
|
NM_004211.5(SLC6A5):c.1229_1230inv (p.Ser410Leu)
|
|
|
|
NM_004211.5(SLC6A5):c.1230A>C (p.Ser410=)
|
rs7925597
|
|
|
NM_004211.5(SLC6A5):c.1237A>G (p.Lys413Glu)
|
|
|
|
NM_004211.5(SLC6A5):c.123C>A (p.Pro41=)
|
|
|
|
NM_004211.5(SLC6A5):c.1245C>T (p.Ile415=)
|
|
|
|
NM_004211.5(SLC6A5):c.1250C>T (p.Thr417Ile)
|
|
|
|
NM_004211.5(SLC6A5):c.1260+13A>G
|
rs546552269
|
|
|
NM_004211.5(SLC6A5):c.1260+1G>T
|
rs2133788446
|
|
|
NM_004211.5(SLC6A5):c.1260+5G>A
|
rs770409829
|
|
|
NM_004211.5(SLC6A5):c.1260+9T>C
|
|
|
|
NM_004211.5(SLC6A5):c.1261-13A>G
|
|
|
|
NM_004211.5(SLC6A5):c.1261-17G>A
|
rs1853001259
|
|
|
NM_004211.5(SLC6A5):c.1261-19C>A
|
rs2133798376
|
|
|
NM_004211.5(SLC6A5):c.1261-3T>C
|
|
|
|
NM_004211.5(SLC6A5):c.1261-5T>C
|
rs1853001503
|
|
|
NM_004211.5(SLC6A5):c.1261-9C>T
|
|
|
|
NM_004211.5(SLC6A5):c.1266_1267dup (p.Tyr423fs)
|
rs2133798401
|
|
|
NM_004211.5(SLC6A5):c.126G>T (p.Ala42=)
|
|
|
|
NM_004211.5(SLC6A5):c.1282T>C (p.Phe428Leu)
|
rs2133798440
|
|
|
NM_004211.5(SLC6A5):c.1284C>T (p.Phe428=)
|
|
|
|
NM_004211.5(SLC6A5):c.1286C>A (p.Pro429Gln)
|
rs745539706
|
|
|
NM_004211.5(SLC6A5):c.1286C>T (p.Pro429Leu)
|
|
|
|
NM_004211.5(SLC6A5):c.1294G>A (p.Val432Ile)
|
|
|
|
NM_004211.5(SLC6A5):c.1294delinsTT (p.Val432fs)
|
rs281864924
|
|
|
NM_004211.5(SLC6A5):c.1299C>T (p.Leu433=)
|
|
|
|
NM_004211.5(SLC6A5):c.1305C>A (p.Ile435=)
|
|
|
|
NM_004211.5(SLC6A5):c.1311C>T (p.Leu437=)
|
|
|
|
NM_004211.5(SLC6A5):c.1325C>A (p.Thr442Asn)
|
|
|
|
NM_004211.5(SLC6A5):c.1329G>A (p.Leu443=)
|
rs1756211369
|
|
|
NM_004211.5(SLC6A5):c.132C>A (p.Ala44=)
|
|
|
|
NM_004211.5(SLC6A5):c.132C>G (p.Ala44=)
|
|
|
|
NM_004211.5(SLC6A5):c.1332T>A (p.Pro444=)
|
rs1373803710
|
|
|
NM_004211.5(SLC6A5):c.1335A>T (p.Gly445=)
|
|
|
|
NM_004211.5(SLC6A5):c.1338T>G (p.Ala446=)
|
rs766390257
|
|
|
NM_004211.5(SLC6A5):c.133_134delinsAA (p.Ala45Asn)
|
rs2133767818
|
|
|
NM_004211.5(SLC6A5):c.134C>G (p.Ala45Gly)
|
rs755131121
|
|
|
NM_004211.5(SLC6A5):c.135C>T (p.Ala45=)
|
|
|
|
NM_004211.5(SLC6A5):c.1360A>C (p.Ile454Leu)
|
|
|
|
NM_004211.5(SLC6A5):c.1366C>A (p.Pro456Thr)
|
rs151291192
|
|
|
NM_004211.5(SLC6A5):c.1366C>T (p.Pro456Ser)
|
rs151291192
|
|
|
NM_004211.5(SLC6A5):c.1374G>A (p.Trp458Ter)
|
|
|
|
NM_004211.5(SLC6A5):c.1374G>C (p.Trp458Cys)
|
|
|
|
NM_004211.5(SLC6A5):c.1385C>A (p.Thr462Lys)
|
rs774730423
|
|
|
NM_004211.5(SLC6A5):c.1385C>T (p.Thr462Met)
|
rs774730423
|
|
|
NM_004211.5(SLC6A5):c.1386G>A (p.Thr462=)
|
rs544994371
|
|
|
NM_004211.5(SLC6A5):c.1386G>T (p.Thr462=)
|
rs544994371
|
|
|
NM_004211.5(SLC6A5):c.1386_1387delinsAA (p.Asp463Asn)
|
rs2133798628
|
|
|
NM_004211.5(SLC6A5):c.1395+12A>G
|
|
|
|
NM_004211.5(SLC6A5):c.1395+16T>C
|
|
|
|
NM_004211.5(SLC6A5):c.1395+16del
|
|
|
|
NM_004211.5(SLC6A5):c.1396-12T>C
|
|
|
|
NM_004211.5(SLC6A5):c.1396-13T>A
|
|
|
|
NM_004211.5(SLC6A5):c.1396-15C>T
|
|
|
|
NM_004211.5(SLC6A5):c.1396-16C>G
|
rs2133799962
|
|
|
NM_004211.5(SLC6A5):c.1396-19T>A
|
|
|
|
NM_004211.5(SLC6A5):c.1396-19T>C
|
|
|
|
NM_004211.5(SLC6A5):c.1396-5C>A
|
|
|
|
NM_004211.5(SLC6A5):c.1396-6T>C
|
|
|
|
NM_004211.5(SLC6A5):c.1396-7C>A
|
|
|
|
NM_004211.5(SLC6A5):c.1396-8C>T
|
|
|
|
NM_004211.5(SLC6A5):c.139C>A (p.Pro47Thr)
|
rs2133767839
|
|
|
NM_004211.5(SLC6A5):c.1400G>C (p.Trp467Ser)
|
|
|
|
NM_004211.5(SLC6A5):c.1407T>C (p.Asp469=)
|
rs1853033038
|
|
|
NM_004211.5(SLC6A5):c.1426T>G (p.Phe476Val)
|
|
|
|
NM_004211.5(SLC6A5):c.1442C>T (p.Ala481Val)
|
|
|
|
NM_004211.5(SLC6A5):c.1443A>G (p.Ala481=)
|
rs1352575247
|
|
|
NM_004211.5(SLC6A5):c.1443A>T (p.Ala481=)
|
rs1352575247
|
|
|
NM_004211.5(SLC6A5):c.1449A>C (p.Gly483=)
|
|
|
|
NM_004211.5(SLC6A5):c.144G>C (p.Pro48=)
|
|
|
|
NM_004211.5(SLC6A5):c.1452C>G (p.Gly484=)
|
|
|
|
NM_004211.5(SLC6A5):c.1456A>C (p.Ile486Leu)
|
rs1853034705
|
|
|
NM_004211.5(SLC6A5):c.1469C>T (p.Ser490Phe)
|
|
|
|
NM_004211.5(SLC6A5):c.1473C>T (p.Tyr491=)
|
|
|
|
NM_004211.5(SLC6A5):c.1475A>G (p.Asn492Ser)
|
rs1454998181
|
|
|
NM_004211.5(SLC6A5):c.1499+15T>G
|
rs80286799
|
|
|
NM_004211.5(SLC6A5):c.1499+3A>G
|
|
|
|
NM_004211.5(SLC6A5):c.1499+4T>A
|
|
|
|
NM_004211.5(SLC6A5):c.149G>A (p.Arg50His)
|
rs1445215942
|
|
|
NM_004211.5(SLC6A5):c.1500-13C>T
|
|
|
|
NM_004211.5(SLC6A5):c.1500-16G>T
|
|
|
|
NM_004211.5(SLC6A5):c.1500-20C>T
|
rs1463013210
|
|
|
NM_004211.5(SLC6A5):c.1500-4C>T
|
|
|
|
NM_004211.5(SLC6A5):c.1505C>T (p.Thr502Ile)
|
rs2133802940
|
|
|
NM_004211.5(SLC6A5):c.1506T>C (p.Thr502=)
|
|
|
|
NM_004211.5(SLC6A5):c.1523C>G (p.Thr508Ser)
|
rs143730018
|
|
|
NM_004211.5(SLC6A5):c.1523C>T (p.Thr508Ile)
|
rs143730018
|
|
|
NM_004211.5(SLC6A5):c.1534A>G (p.Thr512Ala)
|
rs2133802994
|
|
|
NM_004211.5(SLC6A5):c.1537A>T (p.Ser513Cys)
|
rs2133803001
|
|
|
NM_004211.5(SLC6A5):c.1538G>T (p.Ser513Ile)
|
|
|
|
NM_004211.5(SLC6A5):c.1548C>A (p.Ala516=)
|
|
|
|
NM_004211.5(SLC6A5):c.1553T>G (p.Phe518Cys)
|
|
|
|
NM_004211.5(SLC6A5):c.1560C>T (p.Ile520=)
|
|
|
|
NM_004211.5(SLC6A5):c.1563C>T (p.Phe521=)
|
|
|
|
NM_004211.5(SLC6A5):c.1566C>T (p.Ser522=)
|
|
|
|
NM_004211.5(SLC6A5):c.1583C>G (p.Ala528Gly)
|
rs1853094457
|
|
|
NM_004211.5(SLC6A5):c.1591C>T (p.Arg531Cys)
|
|
|
|
NM_004211.5(SLC6A5):c.1592G>A (p.Arg531His)
|
rs1216195877
|
|
|
NM_004211.5(SLC6A5):c.1599C>G (p.Val533=)
|
rs1590171374
|
|
|
NM_004211.5(SLC6A5):c.1600A>G (p.Asn534Asp)
|
rs2133803118
|
|
|
NM_004211.5(SLC6A5):c.1603A>T (p.Ile535Phe)
|
rs1853095196
|
|
|
NM_004211.5(SLC6A5):c.1620C>T (p.Asp540=)
|
|
|
|
NM_004211.5(SLC6A5):c.1621C>A (p.Gln541Lys)
|
rs931802079
|
|
|
NM_004211.5(SLC6A5):c.1624+19C>G
|
|
|
|
NM_004211.5(SLC6A5):c.1624+2T>C
|
|
|
|
NM_004211.5(SLC6A5):c.1624+5A>G
|
|
|
|
NM_004211.5(SLC6A5):c.1624+7G>A
|
|
|
|
NM_004211.5(SLC6A5):c.1625-10T>C
|
|
|
|
NM_004211.5(SLC6A5):c.1625-10T>G
|
|
|
|
NM_004211.5(SLC6A5):c.1625-11G>C
|
rs2133808346
|
|
|
NM_004211.5(SLC6A5):c.1625-13T>G
|
|
|
|
NM_004211.5(SLC6A5):c.1625-7C>T
|
rs1853204334
|
|
|
NM_004211.5(SLC6A5):c.1625-9T>C
|
|
|
|
NM_004211.5(SLC6A5):c.162C>A (p.Ser54=)
|
|
|
|
NM_004211.5(SLC6A5):c.1632C>T (p.Gly544=)
|
rs1050225812
|
|
|
NM_004211.5(SLC6A5):c.1641T>G (p.Phe547Leu)
|
rs2133808393
|
|
|
NM_004211.5(SLC6A5):c.1651C>T (p.Pro551Ser)
|
|
|
|
NM_004211.5(SLC6A5):c.1655A>C (p.Glu552Ala)
|
rs2133808423
|
|
|
NM_004211.5(SLC6A5):c.1659C>T (p.Ala553=)
|
|
|
|
NM_004211.5(SLC6A5):c.1663A>C (p.Thr555Pro)
|
|
|
|
NM_004211.5(SLC6A5):c.1664C>A (p.Thr555Asn)
|
rs756304752
|
|
|
NM_004211.5(SLC6A5):c.1668G>T (p.Arg556Ser)
|
rs1853207207
|
|
|
NM_004211.5(SLC6A5):c.1671G>T (p.Leu557=)
|
rs1565284979
|
|
|
NM_004211.5(SLC6A5):c.1677C>T (p.Leu559=)
|
|
|
|
NM_004211.5(SLC6A5):c.1680_1681del (p.Pro561fs)
|
|
|
|
NM_004211.5(SLC6A5):c.1680_1681dup (p.Pro561fs)
|
rs1468013577
|
|
|
NM_004211.5(SLC6A5):c.1691C>T (p.Ala564Val)
|
rs2133808511
|
|
|
NM_004211.5(SLC6A5):c.1713C>T (p.Leu571=)
|
rs192169080
|
|
|
NM_004211.5(SLC6A5):c.172G>C (p.Gly58Arg)
|
rs2133767900
|
|
|
NM_004211.5(SLC6A5):c.1731C>T (p.Asp577=)
|
|
|
|
NM_004211.5(SLC6A5):c.1735A>C (p.Met579Leu)
|
rs368756114
|
|
|
NM_004211.5(SLC6A5):c.1738-11C>T
|
|
|
|
NM_004211.5(SLC6A5):c.1738-15C>T
|
rs766857863
|
|
|
NM_004211.5(SLC6A5):c.1738-1G>C
|
|
|
|
NM_004211.5(SLC6A5):c.1738-20A>G
|
|
|
|
NM_004211.5(SLC6A5):c.1738-8G>A
|
rs1853223940
|
|
|
NM_004211.5(SLC6A5):c.1741G>A (p.Ala581Thr)
|
rs2133809378
|
|
|
NM_004211.5(SLC6A5):c.1749C>A (p.Ile583=)
|
rs372092287
|
|
|
NM_004211.5(SLC6A5):c.1749C>T (p.Ile583=)
|
|
|
|
NM_004211.5(SLC6A5):c.1756A>G (p.Ile586Val)
|
|
|
|
NM_004211.5(SLC6A5):c.1759del (p.Ile586_Val587insTer)
|
rs2133809394
|
|
|
NM_004211.5(SLC6A5):c.175G>A (p.Ala59Thr)
|
rs1445282447
|
|
|
NM_004211.5(SLC6A5):c.1775A>C (p.Asp592Ala)
|
|
|
|
NM_004211.5(SLC6A5):c.1779G>A (p.Glu593=)
|
rs2133809419
|
|
|
NM_004211.5(SLC6A5):c.1780T>A (p.Phe594Ile)
|
rs2133809424
|
|
|
NM_004211.5(SLC6A5):c.1792C>T (p.Leu598=)
|
|
|
|
NM_004211.5(SLC6A5):c.1796G>A (p.Arg599His)
|
|
|
|
NM_004211.5(SLC6A5):c.1799C>T (p.Thr600Ile)
|
|
|
|
NM_004211.5(SLC6A5):c.179A>C (p.Gln60Pro)
|
rs914173347
|
|
|
NM_004211.5(SLC6A5):c.179A>G (p.Gln60Arg)
|
|
|
|
NM_004211.5(SLC6A5):c.1801C>T (p.His601Tyr)
|
|
|
|
NM_004211.5(SLC6A5):c.180A>C (p.Gln60His)
|
|
|
|
NM_004211.5(SLC6A5):c.1810G>A (p.Val604Met)
|
rs2133809493
|
|
|
NM_004211.5(SLC6A5):c.1824C>G (p.Gly608=)
|
|
|
|
NM_004211.5(SLC6A5):c.1831A>T (p.Ile611Phe)
|
rs2133809515
|
|
|
NM_004211.5(SLC6A5):c.1844T>C (p.Ile615Thr)
|
|
|
|
NM_004211.5(SLC6A5):c.1846A>C (p.Met616Leu)
|
rs142895058
|
|
|
NM_004211.5(SLC6A5):c.1857A>G (p.Pro619=)
|
|
|
|
NM_004211.5(SLC6A5):c.1867C>A (p.Gln623Lys)
|
rs1332758930
|
|
|
NM_004211.5(SLC6A5):c.1869+16G>A
|
|
|
|
NM_004211.5(SLC6A5):c.1869+9C>T
|
|
|
|
NM_004211.5(SLC6A5):c.1870-15T>C
|
|
|
|
NM_004211.5(SLC6A5):c.1870-18G>T
|
|
|
|
NM_004211.5(SLC6A5):c.1870-5G>A
|
|
|
|
NM_004211.5(SLC6A5):c.1872T>G (p.Gly624=)
|
rs969805899
|
|
|
NM_004211.5(SLC6A5):c.1881C>T (p.Tyr627=)
|
|
|
|
NM_004211.5(SLC6A5):c.1893del (p.Val632fs)
|
|
|
|
NM_004211.5(SLC6A5):c.18C>T (p.Pro6=)
|
rs764731779
|
|
|
NM_004211.5(SLC6A5):c.1901C>T (p.Thr634Ile)
|
|
|
|
NM_004211.5(SLC6A5):c.1905T>C (p.Tyr635=)
|
|
|
|
NM_004211.5(SLC6A5):c.1910C>T (p.Ala637Val)
|
rs770169307
|
|
|
NM_004211.5(SLC6A5):c.1920C>T (p.Ala640=)
|
|
|
|
NM_004211.5(SLC6A5):c.1927A>G (p.Ile643Val)
|
|
|
|
NM_004211.5(SLC6A5):c.1929C>T (p.Ile643=)
|
|
|
|
NM_004211.5(SLC6A5):c.1935C>T (p.Ala645=)
|
|
|
|
NM_004211.5(SLC6A5):c.1945C>A (p.Leu649Ile)
|
|
|
|
NM_004211.5(SLC6A5):c.1945C>T (p.Leu649Phe)
|
rs776547802
|
|
|
NM_004211.5(SLC6A5):c.1947C>T (p.Leu649=)
|
|
|
|
NM_004211.5(SLC6A5):c.194C>A (p.Ala65Glu)
|
rs768245472
|
|
|
NM_004211.5(SLC6A5):c.194C>T (p.Ala65Val)
|
|
|
|
NM_004211.5(SLC6A5):c.1954A>G (p.Ile652Val)
|
rs758123289
|
|
|
NM_004211.5(SLC6A5):c.1956C>G (p.Ile652Met)
|
|
|
|
NM_004211.5(SLC6A5):c.195G>A (p.Ala65=)
|
|
|
|
NM_004211.5(SLC6A5):c.1966T>C (p.Tyr656His)
|
|
|
|
NM_004211.5(SLC6A5):c.1969+16T>C
|
rs898046982
|
|
|
NM_004211.5(SLC6A5):c.1969+19C>T
|
rs1853255150
|
|
|
NM_004211.5(SLC6A5):c.1969+1G>A
|
|
|
|
NM_004211.5(SLC6A5):c.1969+20T>C
|
rs2133810934
|
|
|
NM_004211.5(SLC6A5):c.1970-10C>A
|
|
|
|
NM_004211.5(SLC6A5):c.1970-16G>C
|
|
|
|
NM_004211.5(SLC6A5):c.1970-4G>T
|
|
|
|
NM_004211.5(SLC6A5):c.1970-8A>G
|
|
|
|
NM_004211.5(SLC6A5):c.1970-9T>C
|
rs2133819196
|
|
|
NM_004211.5(SLC6A5):c.1970G>C (p.Gly657Ala)
|
|
|
|
NM_004211.5(SLC6A5):c.1971C>G (p.Gly657=)
|
|
|
|
NM_004211.5(SLC6A5):c.197A>T (p.Asp66Val)
|
rs776289389
|
|
|
NM_004211.5(SLC6A5):c.1980A>G (p.Arg660=)
|
|
|
|
NM_004211.5(SLC6A5):c.198C>A (p.Asp66Glu)
|
rs1454104001
|
|
|
NM_004211.5(SLC6A5):c.2000T>G (p.Met667Arg)
|
|
|
|
NM_004211.5(SLC6A5):c.2006T>C (p.Ile669Thr)
|
rs1233863393
|
|
|
NM_004211.5(SLC6A5):c.2017C>G (p.Pro673Ala)
|
|
|
|
NM_004211.5(SLC6A5):c.201G>A (p.Ala67=)
|
rs750917084
|
|
|
NM_004211.5(SLC6A5):c.2025C>T (p.Ile675=)
|
|
|
|
NM_004211.5(SLC6A5):c.2026T>G (p.Phe676Val)
|
rs562578394
|
|
|
NM_004211.5(SLC6A5):c.204A>G (p.Arg68=)
|
|
|
|
NM_004211.5(SLC6A5):c.2062A>C (p.Ile688Leu)
|
rs2133819327
|
|
|
NM_004211.5(SLC6A5):c.2069C>T (p.Thr690Ile)
|
rs2133819341
|
|
|
NM_004211.5(SLC6A5):c.2070+16G>A
|
|
|
|
NM_004211.5(SLC6A5):c.2070+2T>G
|
|
|
|
NM_004211.5(SLC6A5):c.2071-11T>C
|
|
|
|
NM_004211.5(SLC6A5):c.2071-11del
|
|
|
|
NM_004211.5(SLC6A5):c.2071-1G>A
|
|
|
|
NM_004211.5(SLC6A5):c.2071-7T>C
|
|
|
|
NM_004211.5(SLC6A5):c.2105C>G (p.Pro702Arg)
|
rs2133825021
|
|
|
NM_004211.5(SLC6A5):c.2114A>T (p.Tyr705Phe)
|
|
|
|
NM_004211.5(SLC6A5):c.2117G>T (p.Gly706Val)
|
rs2133825046
|
|
|
NM_004211.5(SLC6A5):c.2122T>C (p.Tyr708His)
|
rs2133825057
|
|
|
NM_004211.5(SLC6A5):c.2124C>A (p.Tyr708Ter)
|
rs755040627
|
|
|
NM_004211.5(SLC6A5):c.2126G>A (p.Arg709His)
|
|
|
|
NM_004211.5(SLC6A5):c.2151C>G (p.Leu717=)
|
|
|
|
NM_004211.5(SLC6A5):c.2162T>C (p.Met721Thr)
|
|
|
|
NM_004211.5(SLC6A5):c.2164C>T (p.Leu722Phe)
|
rs768138885
|
|
|
NM_004211.5(SLC6A5):c.2170T>A (p.Cys724Ser)
|
rs2133825147
|
|
|
NM_004211.5(SLC6A5):c.2170T>G (p.Cys724Gly)
|
rs2133825147
|
|
|
NM_004211.5(SLC6A5):c.2175C>T (p.Ser725=)
|
|
|
|
NM_004211.5(SLC6A5):c.2180T>C (p.Ile727Thr)
|
|
|
|
NM_004211.5(SLC6A5):c.2182T>C (p.Trp728Arg)
|
|
|
|
NM_004211.5(SLC6A5):c.218A>G (p.Glu73Gly)
|
|
|
|
NM_004211.5(SLC6A5):c.2196G>A (p.Met732Ile)
|
|
|
|
NM_004211.5(SLC6A5):c.2217G>A (p.Leu739=)
|
|
|
|
NM_004211.5(SLC6A5):c.2234T>C (p.Ile745Thr)
|
|
|
|
NM_004211.5(SLC6A5):c.2239-8del
|
|
|
|
NM_004211.5(SLC6A5):c.2241G>A (p.Arg747=)
|
|
|
|
NM_004211.5(SLC6A5):c.2258C>A (p.Ser753Ter)
|
rs1715297
|
|
|
NM_004211.5(SLC6A5):c.2258C>G (p.Ser753Trp)
|
rs1715297
|
|
|
NM_004211.5(SLC6A5):c.2259G>A (p.Ser753=)
|
|
|
|
NM_004211.5(SLC6A5):c.2259G>T (p.Ser753=)
|
rs369433798
|
|
|
NM_004211.5(SLC6A5):c.225A>G (p.Pro75=)
|
rs1205577391
|
|
|
NM_004211.5(SLC6A5):c.2281T>C (p.Phe761Leu)
|
rs375399805
|
|
|
NM_004211.5(SLC6A5):c.2283C>A (p.Phe761Leu)
|
|
|
|
NM_004211.5(SLC6A5):c.2285T>C (p.Leu762Ser)
|
|
|
|
NM_004211.5(SLC6A5):c.228A>T (p.Gly76=)
|
|
|
|
NM_004211.5(SLC6A5):c.2293C>A (p.His765Asn)
|
|
|
|
NM_004211.5(SLC6A5):c.2310C>T (p.Tyr770=)
|
|
|
|
NM_004211.5(SLC6A5):c.2313G>A (p.Lys771=)
|
rs2133827656
|
|
|
NM_004211.5(SLC6A5):c.2323G>A (p.Asp775Asn)
|
rs776857479
|
|
|
NM_004211.5(SLC6A5):c.2323G>C (p.Asp775His)
|
rs776857479
|
|
|
NM_004211.5(SLC6A5):c.2326C>G (p.Pro776Ala)
|
rs2133827678
|
|
|
NM_004211.5(SLC6A5):c.2333G>A (p.Gly778Glu)
|
|
|
|
NM_004211.5(SLC6A5):c.2335del (p.Thr779fs)
|
rs2133827681
|
|
|
NM_004211.5(SLC6A5):c.233G>C (p.Gly78Ala)
|
|
|
|
NM_004211.5(SLC6A5):c.2340T>C (p.Ser780=)
|
|
|
|
NM_004211.5(SLC6A5):c.2344T>G (p.Leu782Val)
|
rs765305254
|
|
|
NM_004211.5(SLC6A5):c.2356C>T (p.Leu786=)
|
rs1035286521
|
|
|
NM_004211.5(SLC6A5):c.2367G>A (p.Lys789=)
|
|
|
|
NM_004211.5(SLC6A5):c.2368G>C (p.Asp790His)
|
rs1373031954
|
|
|
NM_004211.5(SLC6A5):c.236C>G (p.Ser79Cys)
|
|
|
|
NM_004211.5(SLC6A5):c.236C>T (p.Ser79Phe)
|
|
|
|
NM_004211.5(SLC6A5):c.2379G>T (p.Leu793=)
|
|
|
|
NM_004211.5(SLC6A5):c.246C>T (p.Leu82=)
|
rs1374623528
|
|
|
NM_004211.5(SLC6A5):c.249T>C (p.Ser83=)
|
rs2133768029
|
|
|
NM_004211.5(SLC6A5):c.252C>T (p.Ser84=)
|
|
|
|
NM_004211.5(SLC6A5):c.254C>A (p.Pro85Gln)
|
|
|
|
NM_004211.5(SLC6A5):c.254C>T (p.Pro85Leu)
|
rs751752571
|
|
|
NM_004211.5(SLC6A5):c.256C>G (p.Arg86Gly)
|
|
|
|
NM_004211.5(SLC6A5):c.261G>A (p.Ala87=)
|
|
|
|
NM_004211.5(SLC6A5):c.261G>C (p.Ala87=)
|
|
|
|
NM_004211.5(SLC6A5):c.261G>T (p.Ala87=)
|
|
|
|
NM_004211.5(SLC6A5):c.264G>A (p.Gln88=)
|
|
|
|
NM_004211.5(SLC6A5):c.272C>T (p.Ser91Phe)
|
rs2133768106
|
|
|
NM_004211.5(SLC6A5):c.280C>T (p.Leu94=)
|
|
|
|
NM_004211.5(SLC6A5):c.283C>A (p.Arg95=)
|
|
|
|
NM_004211.5(SLC6A5):c.28A>C (p.Asn10His)
|
|
|
|
NM_004211.5(SLC6A5):c.299C>A (p.Ala100Glu)
|
|
|
|
NM_004211.5(SLC6A5):c.299C>T (p.Ala100Val)
|
rs768440032
|
|
|
NM_004211.5(SLC6A5):c.3+11G>C
|
|
|
|
NM_004211.5(SLC6A5):c.3+15T>C
|
|
|
|
NM_004211.5(SLC6A5):c.3+16T>A
|
|
|
|
NM_004211.5(SLC6A5):c.3+18T>G
|
|
|
|
NM_004211.5(SLC6A5):c.3+1G>T
|
|
|
|
NM_004211.5(SLC6A5):c.3+2T>C
|
|
|
|
NM_004211.5(SLC6A5):c.3+8T>A
|
|
|
|
NM_004211.5(SLC6A5):c.3+8_3+11del
|
|
|
|
NM_004211.5(SLC6A5):c.306C>T (p.Gly102=)
|
|
|
|
NM_004211.5(SLC6A5):c.307G>A (p.Ala103Thr)
|
rs1852473995
|
|
|
NM_004211.5(SLC6A5):c.317C>T (p.Ser106Leu)
|
|
|
|
NM_004211.5(SLC6A5):c.318G>C (p.Ser106=)
|
|
|
|
NM_004211.5(SLC6A5):c.31A>T (p.Lys11Ter)
|
|
|
|
NM_004211.5(SLC6A5):c.323C>A (p.Pro108His)
|
|
|
|
NM_004211.5(SLC6A5):c.323del (p.Pro108fs)
|
rs281864923
|
|
|
NM_004211.5(SLC6A5):c.327C>A (p.Pro109=)
|
rs767784671
|
|
|
NM_004211.5(SLC6A5):c.327C>T (p.Pro109=)
|
rs767784671
|
|
|
NM_004211.5(SLC6A5):c.330G>A (p.Gly110=)
|
|
|
|
NM_004211.5(SLC6A5):c.332G>A (p.Ser111Asn)
|
|
|
|
NM_004211.5(SLC6A5):c.336C>G (p.Ser112=)
|
|
|
|
NM_004211.5(SLC6A5):c.342del (p.Gly115fs)
|
|
|
|
NM_004211.5(SLC6A5):c.351G>A (p.Ala117=)
|
|
|
|
NM_004211.5(SLC6A5):c.351G>C (p.Ala117=)
|
rs370151412
|
|
|
NM_004211.5(SLC6A5):c.351_352delinsAT (p.Ala117_Leu118=)
|
rs2133768275
|
|
|
NM_004211.5(SLC6A5):c.353T>G (p.Leu118Arg)
|
|
|
|
NM_004211.5(SLC6A5):c.360T>C (p.Cys120=)
|
|
|
|
NM_004211.5(SLC6A5):c.363G>T (p.Lys121Asn)
|
|
|
|
NM_004211.5(SLC6A5):c.373C>T (p.Leu125=)
|
rs1380651088
|
|
|
NM_004211.5(SLC6A5):c.381C>T (p.Gly127=)
|
|
|
|
NM_004211.5(SLC6A5):c.382C>G (p.Pro128Ala)
|
rs781152123
|
|
|
NM_004211.5(SLC6A5):c.384G>A (p.Pro128=)
|
|
|
|
NM_004211.5(SLC6A5):c.387G>A (p.Glu129=)
|
|
|
|
NM_004211.5(SLC6A5):c.391G>A (p.Asp131Asn)
|
rs1852478074
|
|
|
NM_004211.5(SLC6A5):c.395C>G (p.Ala132Gly)
|
rs34243519
|
|
|
NM_004211.5(SLC6A5):c.397A>G (p.Asn133Asp)
|
rs2133768399
|
|
|
NM_004211.5(SLC6A5):c.4-12T>C
|
|
|
|
NM_004211.5(SLC6A5):c.4-13A>C
|
|
|
|
NM_004211.5(SLC6A5):c.4-15A>G
|
|
|
|
NM_004211.5(SLC6A5):c.4-8_4-7insCTC
|
|
|
|
NM_004211.5(SLC6A5):c.400G>A (p.Val134Met)
|
|
|
|
NM_004211.5(SLC6A5):c.418A>G (p.Thr140Ala)
|
|
|
|
NM_004211.5(SLC6A5):c.421C>T (p.Leu141=)
|
|
|
|
NM_004211.5(SLC6A5):c.429G>T (p.Arg143=)
|
rs1312832221
|
|
|
NM_004211.5(SLC6A5):c.435T>C (p.Asn145=)
|
rs375679521
|
|
|
NM_004211.5(SLC6A5):c.437C>T (p.Thr146Ile)
|
rs759574943
|
|
|
NM_004211.5(SLC6A5):c.438C>A (p.Thr146=)
|
rs752552283
|
|
|
NM_004211.5(SLC6A5):c.440C>A (p.Pro147His)
|
|
|
|
NM_004211.5(SLC6A5):c.450C>G (p.Gly150=)
|
|
|
|
NM_004211.5(SLC6A5):c.465C>G (p.Ser155Arg)
|
|
|
|
NM_004211.5(SLC6A5):c.468G>C (p.Gln156His)
|
|
|
|
NM_004211.5(SLC6A5):c.469A>C (p.Ser157Arg)
|
rs1590152118
|
|
|
NM_004211.5(SLC6A5):c.469A>G (p.Ser157Gly)
|
rs1590152118
|
|
|
NM_004211.5(SLC6A5):c.474C>G (p.Thr158=)
|
|
|
|
NM_004211.5(SLC6A5):c.475G>T (p.Val159Leu)
|
|
|
|
NM_004211.5(SLC6A5):c.477G>C (p.Val159=)
|
rs1288211274
|
|
|
NM_004211.5(SLC6A5):c.480G>T (p.Val160=)
|
|
|
|
NM_004211.5(SLC6A5):c.488C>T (p.Thr163Met)
|
|
|
|
NM_004211.5(SLC6A5):c.489G>T (p.Thr163=)
|
|
|
|
NM_004211.5(SLC6A5):c.498C>T (p.Ile166=)
|
rs1264509257
|
|
|
NM_004211.5(SLC6A5):c.501G>A (p.Thr167=)
|
|
|
|
NM_004211.5(SLC6A5):c.503C>A (p.Ser168Tyr)
|
rs1217156846
|
|
|
NM_004211.5(SLC6A5):c.504C>G (p.Ser168=)
|
|
|
|
NM_004211.5(SLC6A5):c.516C>T (p.Gly172=)
|
rs747444143
|
|
|
NM_004211.5(SLC6A5):c.51G>A (p.Pro17=)
|
rs1326565040
|
|
|
NM_004211.5(SLC6A5):c.520G>T (p.Val174Leu)
|
rs768896174
|
|
|
NM_004211.5(SLC6A5):c.528C>A (p.Thr176=)
|
|
|
|
NM_004211.5(SLC6A5):c.536C>T (p.Thr179Ile)
|
|
|
|
NM_004211.5(SLC6A5):c.540+13C>T
|
|
|
|
NM_004211.5(SLC6A5):c.540+14A>C
|
rs2133768675
|
|
|
NM_004211.5(SLC6A5):c.540+18C>T
|
|
|
|
NM_004211.5(SLC6A5):c.540+20G>A
|
|
|
|
NM_004211.5(SLC6A5):c.540+5G>A
|
rs2133768665
|
|
|
NM_004211.5(SLC6A5):c.541-18G>A
|
rs927897041
|
|
|
NM_004211.5(SLC6A5):c.541-3dup
|
|
|
|
NM_004211.5(SLC6A5):c.541-6C>T
|
rs1247087234
|
|
|
NM_004211.5(SLC6A5):c.541-7C>T
|
rs1852533278
|
|
|
NM_004211.5(SLC6A5):c.541-9C>G
|
rs775616432
|
|
|
NM_004211.5(SLC6A5):c.546C>G (p.Asp182Glu)
|
rs138199033
|
|
|
NM_004211.5(SLC6A5):c.546C>T (p.Asp182=)
|
rs138199033
|
|
|
NM_004211.5(SLC6A5):c.550C>A (p.Gln184Lys)
|
rs2133771398
|
|
|
NM_004211.5(SLC6A5):c.555G>A (p.Gly185=)
|
|
|
|
NM_004211.5(SLC6A5):c.573A>T (p.Arg191=)
|
|
|
|
NM_004211.5(SLC6A5):c.577A>T (p.Asn193Tyr)
|
rs1852534533
|
|
|
NM_004211.5(SLC6A5):c.578A>G (p.Asn193Ser)
|
rs1012031086
|
|
|
NM_004211.5(SLC6A5):c.608C>T (p.Ser203Phe)
|
|
|
|
NM_004211.5(SLC6A5):c.611T>A (p.Met204Lys)
|
rs1201783797
|
|
|
NM_004211.5(SLC6A5):c.61G>A (p.Ala21Thr)
|
rs1218608422
|
|
|
NM_004211.5(SLC6A5):c.630G>T (p.Gly210=)
|
|
|
|
NM_004211.5(SLC6A5):c.640G>A (p.Val214Ile)
|
|
|
|
NM_004211.5(SLC6A5):c.668A>G (p.Gln223Arg)
|
|
|
|
NM_004211.5(SLC6A5):c.675G>C (p.Gly225=)
|
|
|
|
NM_004211.5(SLC6A5):c.677del (p.Gly226fs)
|
|
|
|
NM_004211.5(SLC6A5):c.679+13C>T
|
|
|
|
NM_004211.5(SLC6A5):c.679+1G>A
|
rs1590154255
|
|
|
NM_004211.5(SLC6A5):c.679+20T>C
|
|
|
|
NM_004211.5(SLC6A5):c.679+7C>A
|
rs2133771636
|
|
|
NM_004211.5(SLC6A5):c.680-11C>A
|
|
|
|
NM_004211.5(SLC6A5):c.680-13del
|
|
|
|
NM_004211.5(SLC6A5):c.680-16C>T
|
|
|
|
NM_004211.5(SLC6A5):c.680-18C>A
|
|
|
|
NM_004211.5(SLC6A5):c.680-20C>G
|
|
|
|
NM_004211.5(SLC6A5):c.680-2A>G
|
|
|
|
NM_004211.5(SLC6A5):c.680-4C>T
|
rs2133774624
|
|
|
NM_004211.5(SLC6A5):c.691A>G (p.Ile231Val)
|
|
|
|
NM_004211.5(SLC6A5):c.693C>T (p.Ile231=)
|
|
|
|
NM_004211.5(SLC6A5):c.699C>T (p.Tyr233=)
|
|
|
|
NM_004211.5(SLC6A5):c.709C>T (p.Leu237=)
|
|
|
|
NM_004211.5(SLC6A5):c.710T>C (p.Leu237Pro)
|
rs2133774690
|
|
|
NM_004211.5(SLC6A5):c.711G>A (p.Leu237=)
|
|
|
|
NM_004211.5(SLC6A5):c.713C>T (p.Ala238Val)
|
rs2133774700
|
|
|
NM_004211.5(SLC6A5):c.715C>T (p.Leu239=)
|
rs2133774714
|
|
|
NM_004211.5(SLC6A5):c.719C>T (p.Ala240Val)
|
|
|
|
NM_004211.5(SLC6A5):c.728C>G (p.Pro243Arg)
|
|
|
|
NM_004211.5(SLC6A5):c.72C>T (p.Gly24=)
|
|
|
|
NM_004211.5(SLC6A5):c.732CTT[2] (p.Phe246del)
|
|
|
|
NM_004211.5(SLC6A5):c.739T>C (p.Leu247=)
|
rs892848321
|
|
|
NM_004211.5(SLC6A5):c.741G>T (p.Leu247Phe)
|
|
|
|
NM_004211.5(SLC6A5):c.745G>T (p.Val249Leu)
|
|
|
|
NM_004211.5(SLC6A5):c.753G>T (p.Leu251=)
|
rs754226256
|
|
|
NM_004211.5(SLC6A5):c.756C>T (p.Gly252=)
|
|
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NM_004211.5(SLC6A5):c.766A>G (p.Ser256Gly)
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NM_004211.5(SLC6A5):c.769C>T (p.Gln257Ter)
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NM_004211.5(SLC6A5):c.76C>A (p.Pro26Thr)
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rs749057466
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NM_004211.5(SLC6A5):c.777A>T (p.Pro259=)
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NM_004211.5(SLC6A5):c.78G>A (p.Pro26=)
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NM_004211.5(SLC6A5):c.805C>T (p.Leu269=)
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NM_004211.5(SLC6A5):c.808C>T (p.Gln270Ter)
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rs778603956
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NM_004211.5(SLC6A5):c.811+14G>A
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NM_004211.5(SLC6A5):c.811+17G>A
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NM_004211.5(SLC6A5):c.811+1G>T
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NM_004211.5(SLC6A5):c.811+2dup
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NM_004211.5(SLC6A5):c.811+3G>A
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rs1555039131
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NM_004211.5(SLC6A5):c.811+8C>T
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NM_004211.5(SLC6A5):c.812-11dup
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rs747885343
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NM_004211.5(SLC6A5):c.812-18G>A
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NM_004211.5(SLC6A5):c.812-20T>C
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NM_004211.5(SLC6A5):c.812-20T>G
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rs757146180
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NM_004211.5(SLC6A5):c.812-4G>T
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rs1852606118
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NM_004211.5(SLC6A5):c.81T>C (p.Asp27=)
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NM_004211.5(SLC6A5):c.835A>G (p.Ile279Val)
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rs763270849
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NM_004211.5(SLC6A5):c.839C>G (p.Ser280Cys)
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NM_004211.5(SLC6A5):c.83G>A (p.Gly28Asp)
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NM_004211.5(SLC6A5):c.840T>C (p.Ser280=)
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NM_004211.5(SLC6A5):c.850G>A (p.Ala284Thr)
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rs887898848
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NM_004211.5(SLC6A5):c.851C>T (p.Ala284Val)
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NM_004211.5(SLC6A5):c.853A>G (p.Ile285Val)
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rs2133775414
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NM_004211.5(SLC6A5):c.854T>C (p.Ile285Thr)
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NM_004211.5(SLC6A5):c.855A>C (p.Ile285=)
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rs1191805948
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NM_004211.5(SLC6A5):c.85C>T (p.Pro29Ser)
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NM_004211.5(SLC6A5):c.867G>A (p.Val289=)
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NM_004211.5(SLC6A5):c.86C>T (p.Pro29Leu)
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NM_004211.5(SLC6A5):c.876C>T (p.Cys292=)
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NM_004211.5(SLC6A5):c.892C>T (p.Leu298=)
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rs373707467
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NM_004211.5(SLC6A5):c.919C>T (p.Pro307Ser)
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NM_004211.5(SLC6A5):c.927C>A (p.Gly309=)
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NM_004211.5(SLC6A5):c.927C>G (p.Gly309=)
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NM_004211.5(SLC6A5):c.941C>A (p.Pro314His)
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rs774704429
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NM_004211.5(SLC6A5):c.942T>A (p.Pro314=)
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NM_004211.5(SLC6A5):c.942T>G (p.Pro314=)
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NM_004211.5(SLC6A5):c.946A>G (p.Asn316Asp)
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NM_004211.5(SLC6A5):c.950C>T (p.Thr317Met)
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rs150764554
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NM_004211.5(SLC6A5):c.95C>T (p.Pro32Leu)
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rs527326906
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NM_004211.5(SLC6A5):c.968A>T (p.Lys323Ile)
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NM_004211.5(SLC6A5):c.96C>T (p.Pro32=)
|
rs886048107
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NM_004211.5(SLC6A5):c.982T>C (p.Leu328=)
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NM_004211.5(SLC6A5):c.985+14T>C
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NM_004211.5(SLC6A5):c.985+16C>G
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NM_004211.5(SLC6A5):c.985+17C>G
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NM_004211.5(SLC6A5):c.985+1G>A
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NM_004211.5(SLC6A5):c.985+7T>C
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NM_004211.5(SLC6A5):c.986-13C>T
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NM_004211.5(SLC6A5):c.986-18C>T
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NM_004211.5(SLC6A5):c.986-9C>T
|
rs1444559242
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NM_004211.5(SLC6A5):c.98G>C (p.Arg33Thr)
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rs867252696
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NM_004211.5(SLC6A5):c.993T>C (p.Cys331=)
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rs373877201
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NM_004211.5(SLC6A5):c.994G>A (p.Val332Ile)
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NM_004211.5(SLC6A5):c.996T>C (p.Val332=)
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NM_004211.5(SLC6A5):c.997_998del (p.Ile333fs)
|
rs1203538648
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