NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val)
|
rs16023
|
0.13336
|
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp)
|
rs16022
|
0.11855
|
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)
|
rs16027
|
0.07737
|
NM_006080.3(SEMA3A):c.1303G>A (p.Val435Ile)
|
rs147436181
|
0.01250
|
NM_001366385.1(CARD14):c.2044C>T (p.Arg682Trp)
|
rs117918077
|
0.01097
|
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)
|
rs1800746
|
0.00889
|
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn)
|
rs179363896
|
0.00715
|
NM_001366385.1(CARD14):c.185G>A (p.Arg62Gln)
|
rs115582620
|
0.00439
|
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)
|
rs61732239
|
0.00399
|
NM_030787.4(CFHR5):c.1135G>C (p.Val379Leu)
|
rs111327589
|
0.00395
|
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg)
|
rs141756032
|
0.00371
|
NM_006080.3(SEMA3A):c.458A>G (p.Asn153Ser)
|
rs139295139
|
0.00254
|
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)
|
rs121918799
|
0.00159
|
NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys)
|
rs148695964
|
0.00158
|
NM_000397.4(CYBB):c.1551T>A (p.Asp517Glu)
|
rs151344452
|
0.00144
|
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)
|
rs184394424
|
0.00107
|
NM_001366385.1(CARD14):c.449T>G (p.Leu150Arg)
|
rs146214639
|
0.00104
|
NM_006080.3(SEMA3A):c.1198A>G (p.Ile400Val)
|
rs36026860
|
0.00100
|
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)
|
rs121908242
|
0.00091
|
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)
|
rs142572218
|
0.00088
|
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His)
|
rs121918769
|
0.00087
|
NM_000022.4(ADA):c.226C>T (p.Arg76Trp)
|
rs121908736
|
0.00081
|
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly)
|
rs121917956
|
0.00073
|
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)
|
rs121917910
|
0.00070
|
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn)
|
rs146902156
|
0.00067
|
NM_000128.4(F11):c.809A>T (p.Lys270Ile)
|
rs121965070
|
0.00055
|
NM_006080.3(SEMA3A):c.196C>T (p.Arg66Trp)
|
rs199979628
|
0.00043
|
NM_001379081.2(FREM1):c.4499A>T (p.Glu1500Val)
|
rs281875280
|
0.00038
|
NM_001366385.1(CARD14):c.2140G>A (p.Gly714Ser)
|
rs151150961
|
0.00035
|
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu)
|
rs139007744
|
0.00031
|
NM_000022.4(ADA):c.643G>A (p.Ala215Thr)
|
rs114025668
|
0.00030
|
NM_001366385.1(CARD14):c.536G>A (p.Arg179His)
|
rs199517469
|
0.00027
|
NM_000022.4(ADA):c.986C>T (p.Ala329Val)
|
rs121908715
|
0.00021
|
NM_018117.12(WDR11):c.1303G>A (p.Ala435Thr)
|
rs318240760
|
0.00020
|
NM_000207.3(INS):c.17G>A (p.Arg6His)
|
rs121908259
|
0.00019
|
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys)
|
rs121908253
|
0.00019
|
NM_018117.12(WDR11):c.1343G>A (p.Arg448Gln)
|
rs144440500
|
0.00018
|
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly)
|
rs121918802
|
0.00016
|
NM_006118.4(HAX1):c.514G>A (p.Val172Ile)
|
rs141970914
|
0.00016
|
NM_139027.6(ADAMTS13):c.3773C>T (p.Ser1258Leu)
|
rs142060916
|
0.00016
|
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg)
|
rs281875281
|
0.00013
|
NM_006080.3(SEMA3A):c.2062A>G (p.Thr688Ala)
|
rs318240751
|
0.00013
|
NM_000487.6(ARSA):c.869G>A (p.Arg290His)
|
rs199476355
|
0.00011
|
NM_018117.12(WDR11):c.2932A>C (p.Lys978Gln)
|
rs144531702
|
0.00010
|
NM_080669.6(SLC46A1):c.1127G>A (p.Arg376Gln)
|
rs281875211
|
0.00010
|
NM_173630.4(RTTN):c.80G>A (p.Cys27Tyr)
|
rs201884120
|
0.00010
|
NM_000022.4(ADA):c.632G>A (p.Arg211His)
|
rs121908716
|
0.00009
|
NM_000391.4(TPP1):c.1027G>A (p.Glu343Lys)
|
rs121908197
|
0.00009
|
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys)
|
rs201777056
|
0.00009
|
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys)
|
rs80356490
|
0.00008
|
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp)
|
rs121917973
|
0.00008
|
NM_000022.4(ADA):c.320T>C (p.Leu107Pro)
|
rs121908739
|
0.00007
|
NM_000022.4(ADA):c.821C>T (p.Pro274Leu)
|
rs121908738
|
0.00007
|
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr)
|
rs281875318
|
0.00007
|
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln)
|
rs121908121
|
0.00007
|
NM_133459.4(CCBE1):c.223T>A (p.Cys75Ser)
|
rs121908250
|
0.00007
|
NM_000022.4(ADA):c.446G>A (p.Arg149Gln)
|
rs121908737
|
0.00006
|
NM_000022.4(ADA):c.646G>A (p.Gly216Arg)
|
rs121908723
|
0.00006
|
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro)
|
rs121434326
|
0.00006
|
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp)
|
rs179363892
|
0.00006
|
NM_000128.4(F11):c.943G>A (p.Glu315Lys)
|
rs281875257
|
0.00006
|
NM_001042492.3(NF1):c.3217A>G (p.Met1073Val)
|
rs199474740
|
0.00006
|
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)
|
rs121908235
|
0.00006
|
NM_001165963.4(SCN1A):c.80G>C (p.Arg27Thr)
|
rs121917906
|
0.00006
|
NM_139027.6(ADAMTS13):c.1816G>C (p.Ala606Pro)
|
rs281875290
|
0.00006
|
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)
|
rs121908721
|
0.00005
|
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)
|
rs119455954
|
0.00005
|
NM_000128.4(F11):c.127G>A (p.Ala43Thr)
|
rs281875264
|
0.00004
|
NM_000128.4(F11):c.723C>G (p.Phe241Leu)
|
rs281875265
|
0.00004
|
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln)
|
rs150739647
|
0.00004
|
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln)
|
rs199476391
|
0.00004
|
NM_000487.6(ARSA):c.925G>A (p.Glu309Lys)
|
rs199476360
|
0.00004
|
NM_005262.3(GFER):c.581G>A (p.Arg194His)
|
rs121908192
|
0.00004
|
NM_006080.3(SEMA3A):c.2198G>A (p.Arg733His)
|
rs318240753
|
0.00004
|
NM_018117.12(WDR11):c.1183C>T (p.Arg395Trp)
|
rs201051480
|
0.00004
|
NM_018117.12(WDR11):c.2070T>A (p.His690Gln)
|
rs318240761
|
0.00004
|
NM_080669.6(SLC46A1):c.1004C>A (p.Ala335Asp)
|
rs281875208
|
0.00004
|
NM_000022.4(ADA):c.890C>A (p.Pro297Gln)
|
rs121908718
|
0.00003
|
NM_000062.3(SERPING1):c.352A>G (p.Thr118Ala)
|
rs200534715
|
0.00003
|
NM_000101.4(CYBA):c.155T>C (p.Leu52Pro)
|
rs179363890
|
0.00003
|
NM_000101.4(CYBA):c.371C>T (p.Ala124Val)
|
rs179363894
|
0.00003
|
NM_000207.3(INS):c.16C>T (p.Arg6Cys)
|
rs121908278
|
0.00003
|
NM_000448.3(RAG1):c.1303A>G (p.Met435Val)
|
rs141524540
|
0.00003
|
NM_000448.3(RAG1):c.2258A>T (p.His753Leu)
|
rs199474687
|
0.00003
|
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu)
|
rs74315464
|
0.00003
|
NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys)
|
rs281875236
|
0.00003
|
NM_001099857.5(IKBKG):c.367C>T (p.Arg123Trp)
|
rs179363895
|
0.00003
|
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu)
|
rs193302892
|
0.00003
|
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)
|
rs121918807
|
0.00003
|
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile)
|
rs121918808
|
0.00003
|
NM_001165963.4(SCN1A):c.890C>T (p.Thr297Ile)
|
rs121918771
|
0.00003
|
NM_006080.3(SEMA3A):c.2189G>A (p.Arg730Gln)
|
rs318240752
|
0.00003
|
NM_080669.6(SLC46A1):c.1126C>T (p.Arg376Trp)
|
rs80338773
|
0.00003
|
NM_139027.6(ADAMTS13):c.3487C>T (p.Arg1163Trp)
|
rs281875339
|
0.00003
|
NM_139027.6(ADAMTS13):c.911A>G (p.Tyr304Cys)
|
rs281875285
|
0.00003
|
NM_000022.4(ADA):c.454C>A (p.Leu152Met)
|
rs121908728
|
0.00002
|
NM_000022.4(ADA):c.529G>A (p.Val177Met)
|
rs121908719
|
0.00002
|
NM_000128.4(F11):c.1853T>G (p.Ile618Ser)
|
rs281875276
|
0.00002
|
NM_000128.4(F11):c.683G>A (p.Arg228Gln)
|
rs281875246
|
0.00002
|
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu)
|
rs179363889
|
0.00002
|
NM_000391.4(TPP1):c.1266G>C (p.Gln422His)
|
rs121908200
|
0.00002
|
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)
|
rs121908202
|
0.00002
|
NM_000391.4(TPP1):c.229G>A (p.Gly77Arg)
|
rs121908195
|
0.00002
|
NM_000433.4(NCF2):c.1105G>A (p.Gly369Arg)
|
rs137854513
|
0.00002
|
NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys)
|
rs104894289
|
0.00002
|
NM_000448.3(RAG1):c.1420C>T (p.Arg474Cys)
|
rs199474678
|
0.00002
|
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp)
|
rs199474676
|
0.00002
|
NM_000487.6(ARSA):c.1292A>C (p.Tyr431Ser)
|
rs199476380
|
0.00002
|
NM_001042492.3(NF1):c.2294G>A (p.Arg765His)
|
rs199474777
|
0.00002
|
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys)
|
rs199474739
|
0.00002
|
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)
|
rs80356492
|
0.00002
|
NM_001165963.4(SCN1A):c.4096G>A (p.Val1366Ile)
|
rs121918805
|
0.00002
|
NM_006907.4(PYCR1):c.616G>A (p.Gly206Arg)
|
rs121918375
|
0.00002
|
NM_030787.4(CFHR5):c.829T>A (p.Tyr277Asn)
|
rs318240756
|
0.00002
|
NM_133459.4(CCBE1):c.520T>C (p.Cys174Arg)
|
rs121908254
|
0.00002
|
NM_139027.6(ADAMTS13):c.1520G>A (p.Arg507Gln)
|
rs281875296
|
0.00002
|
NM_000022.4(ADA):c.301C>T (p.Arg101Trp)
|
rs121908717
|
0.00001
|
NM_000022.4(ADA):c.43C>G (p.His15Asp)
|
rs121908725
|
0.00001
|
NM_000022.4(ADA):c.445C>T (p.Arg149Trp)
|
rs121908733
|
0.00001
|
NM_000022.4(ADA):c.466C>T (p.Arg156Cys)
|
rs121908735
|
0.00001
|
NM_000022.4(ADA):c.467G>A (p.Arg156His)
|
rs121908722
|
0.00001
|
NM_000022.4(ADA):c.536C>A (p.Ala179Asp)
|
rs121908727
|
0.00001
|
NM_000022.4(ADA):c.58G>A (p.Gly20Arg)
|
rs121908724
|
0.00001
|
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)
|
rs121908740
|
0.00001
|
NM_000082.4(ERCC8):c.478G>A (p.Ala160Thr)
|
rs281875222
|
0.00001
|
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val)
|
rs121434325
|
0.00001
|
NM_000082.4(ERCC8):c.797A>G (p.Asp266Gly)
|
rs281875225
|
0.00001
|
NM_000128.4(F11):c.100G>C (p.Asp34His)
|
rs281875267
|
0.00001
|
NM_000128.4(F11):c.1021G>A (p.Glu341Lys)
|
rs281875270
|
0.00001
|
NM_000128.4(F11):c.1207G>A (p.Val403Met)
|
rs281875266
|
0.00001
|
NM_000128.4(F11):c.137G>T (p.Cys46Phe)
|
rs281875271
|
0.00001
|
NM_000128.4(F11):c.1517A>G (p.Asp506Gly)
|
rs281875258
|
0.00001
|
NM_000128.4(F11):c.1578C>G (p.Asp526Glu)
|
rs281875263
|
0.00001
|
NM_000128.4(F11):c.1693G>A (p.Glu565Lys)
|
rs281875275
|
0.00001
|
NM_000128.4(F11):c.1724C>T (p.Ser575Leu)
|
rs281875250
|
0.00001
|
NM_000128.4(F11):c.1789G>A (p.Glu597Lys)
|
rs281875251
|
0.00001
|
NM_000128.4(F11):c.188C>T (p.Ala63Val)
|
rs281875244
|
0.00001
|
NM_000128.4(F11):c.302A>G (p.Lys101Arg)
|
rs281875272
|
0.00001
|
NM_000128.4(F11):c.419G>A (p.Cys140Tyr)
|
rs281875256
|
0.00001
|
NM_000128.4(F11):c.959T>C (p.Leu320Pro)
|
rs281875268
|
0.00001
|
NM_000128.4(F11):c.965C>T (p.Thr322Ile)
|
rs281875269
|
0.00001
|
NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys)
|
rs137853831
|
0.00001
|
NM_000383.4(AIRE):c.62C>T (p.Ala21Val)
|
rs179363886
|
0.00001
|
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro)
|
rs179363878
|
0.00001
|
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu)
|
rs179363885
|
0.00001
|
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg)
|
rs119455953
|
0.00001
|
NM_000391.4(TPP1):c.1340G>A (p.Arg447His)
|
rs119455956
|
0.00001
|
NM_000391.4(TPP1):c.1417G>A (p.Gly473Arg)
|
rs121908203
|
0.00001
|
NM_000391.4(TPP1):c.616C>T (p.Arg206Cys)
|
rs28940573
|
0.00001
|
NM_000391.4(TPP1):c.617G>A (p.Arg206His)
|
rs121908209
|
0.00001
|
NM_000391.4(TPP1):c.851G>T (p.Gly284Val)
|
rs119455957
|
0.00001
|
NM_000433.4(NCF2):c.230G>A (p.Arg77Gln)
|
rs119103275
|
0.00001
|
NM_000433.4(NCF2):c.235A>G (p.Met79Val)
|
rs137854512
|
0.00001
|
NM_000433.4(NCF2):c.383C>T (p.Ala128Val)
|
rs119103274
|
0.00001
|
NM_000433.4(NCF2):c.551G>C (p.Arg184Pro)
|
rs137854518
|
0.00001
|
NM_000433.4(NCF2):c.605C>T (p.Ala202Val)
|
rs137854508
|
0.00001
|
NM_000448.3(RAG1):c.1229G>A (p.Arg410Gln)
|
rs199474684
|
0.00001
|
NM_000448.3(RAG1):c.1331C>T (p.Ala444Val)
|
rs199474685
|
0.00001
|
NM_000448.3(RAG1):c.1421G>A (p.Arg474His)
|
rs199474686
|
0.00001
|
NM_000448.3(RAG1):c.1870C>T (p.Arg624Cys)
|
rs199474688
|
0.00001
|
NM_000448.3(RAG1):c.1871G>A (p.Arg624His)
|
rs199474680
|
0.00001
|
NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys)
|
rs199476370
|
0.00001
|
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr)
|
rs199476376
|
0.00001
|
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly)
|
rs199476388
|
0.00001
|
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp)
|
rs199476352
|
0.00001
|
NM_000487.6(ARSA):c.577C>A (p.Pro193Thr)
|
rs199476374
|
0.00001
|
NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys)
|
rs199476345
|
0.00001
|
NM_000487.6(ARSA):c.685C>T (p.His229Tyr)
|
rs199476354
|
0.00001
|
NM_000487.6(ARSA):c.737G>A (p.Arg246His)
|
rs199476366
|
0.00001
|
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser)
|
rs199476384
|
0.00001
|
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr)
|
rs199476386
|
0.00001
|
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)
|
rs199476349
|
0.00001
|
NM_000487.6(ARSA):c.887G>A (p.Cys296Tyr)
|
rs199476347
|
0.00001
|
NM_000487.6(ARSA):c.912G>C (p.Lys304Asn)
|
rs199476343
|
0.00001
|
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln)
|
rs199476382
|
0.00001
|
NM_001042492.3(NF1):c.1472A>G (p.Tyr491Cys)
|
rs199474757
|
0.00001
|
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg)
|
rs199474730
|
0.00001
|
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr)
|
rs199474728
|
0.00001
|
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp)
|
rs199474732
|
0.00001
|
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)
|
rs137854556
|
0.00001
|
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val)
|
rs199474766
|
0.00001
|
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala)
|
rs199474793
|
0.00001
|
NM_001059.3(TACR3):c.278G>A (p.Gly93Asp)
|
rs121918124
|
0.00001
|
NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr)
|
rs121908245
|
0.00001
|
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met)
|
rs121908240
|
0.00001
|
NM_001127222.2(CACNA1A):c.4474G>A (p.Val1492Ile)
|
rs121908234
|
0.00001
|
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys)
|
rs121908243
|
0.00001
|
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg)
|
rs80356489
|
0.00001
|
NM_001164277.2(SLC37A4):c.443C>T (p.Ala148Val)
|
rs193302879
|
0.00001
|
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)
|
rs193302883
|
0.00001
|
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu)
|
rs193302890
|
0.00001
|
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)
|
rs193302881
|
0.00001
|
NM_001164277.2(SLC37A4):c.686T>C (p.Leu229Pro)
|
rs193302902
|
0.00001
|
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)
|
rs193302889
|
0.00001
|
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys)
|
rs193302882
|
0.00001
|
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn)
|
rs193302900
|
0.00001
|
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)
|
rs121908978
|
0.00001
|
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys)
|
rs193302880
|
0.00001
|
NM_001165963.4(SCN1A):c.187T>C (p.Phe63Leu)
|
rs121917907
|
0.00001
|
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln)
|
rs121917912
|
0.00001
|
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe)
|
rs121918801
|
0.00001
|
NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu)
|
rs121918632
|
0.00001
|
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser)
|
rs121917992
|
0.00001
|
NM_001165963.4(SCN1A):c.4969C>T (p.Arg1657Cys)
|
rs121918811
|
0.00001
|
NM_001366385.1(CARD14):c.112C>T (p.Arg38Cys)
|
rs281875217
|
0.00001
|
NM_001366385.1(CARD14):c.1778T>A (p.Ile593Asn)
|
rs281875220
|
0.00001
|
NM_001366385.1(CARD14):c.349G>A (p.Gly117Ser)
|
rs281875215
|
0.00001
|
NM_001366385.1(CARD14):c.571G>T (p.Val191Leu)
|
rs281875218
|
0.00001
|
NM_002775.5(HTRA1):c.889G>A (p.Val297Met)
|
rs113993969
|
0.00001
|
NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser)
|
rs281875323
|
0.00001
|
NM_006129.5(BMP1):c.34G>C (p.Gly12Arg)
|
rs318240762
|
0.00001
|
NM_006907.4(PYCR1):c.743G>A (p.Gly248Glu)
|
rs281875319
|
0.00001
|
NM_013251.4(TAC3):c.269T>C (p.Met90Thr)
|
rs121918123
|
0.00001
|
NM_015166.4(MLC1):c.206C>T (p.Ser69Leu)
|
rs281875309
|
0.00001
|
NM_015166.4(MLC1):c.240G>A (p.Met80Ile)
|
rs281875310
|
0.00001
|
NM_025216.3(WNT10A):c.283G>A (p.Glu95Lys)
|
rs318240759
|
0.00001
|
NM_030787.4(CFHR5):c.583T>A (p.Ser195Thr)
|
rs318240755
|
0.00001
|
NM_080669.6(SLC46A1):c.337C>T (p.Arg113Cys)
|
rs80338770
|
0.00001
|
NM_080669.6(SLC46A1):c.954C>G (p.Ser318Arg)
|
rs80338772
|
0.00001
|
NM_130468.4(CHST14):c.638G>C (p.Arg213Pro)
|
rs121908257
|
0.00001
|
NM_130468.4(CHST14):c.878A>G (p.Tyr293Cys)
|
rs121908258
|
0.00001
|
NM_139027.6(ADAMTS13):c.1058C>T (p.Pro353Leu)
|
rs281875338
|
0.00001
|
NM_139027.6(ADAMTS13):c.1170G>C (p.Trp390Cys)
|
rs281875306
|
0.00001
|
NM_139027.6(ADAMTS13):c.1787C>T (p.Ala596Val)
|
rs281875299
|
0.00001
|
NM_139027.6(ADAMTS13):c.1973A>G (p.Tyr658Cys)
|
rs281875335
|
0.00001
|
NM_139027.6(ADAMTS13):c.3367C>T (p.Arg1123Cys)
|
rs281875340
|
0.00001
|
NM_139027.6(ADAMTS13):c.3838C>T (p.Arg1280Trp)
|
rs281875308
|
0.00001
|
NM_139027.6(ADAMTS13):c.577C>T (p.Arg193Trp)
|
rs281875287
|
0.00001
|
NM_000022.4(ADA):c.220G>T (p.Gly74Cys)
|
rs121908730
|
|
NM_000022.4(ADA):c.248C>A (p.Ala83Asp)
|
rs121908726
|
|
NM_000022.4(ADA):c.302G>A (p.Arg101Gln)
|
rs121908714
|
|
NM_000022.4(ADA):c.302G>T (p.Arg101Leu)
|
rs121908714
|
|
NM_000022.4(ADA):c.385G>A (p.Val129Met)
|
rs121908731
|
|
NM_000022.4(ADA):c.419G>A (p.Gly140Glu)
|
rs121908732
|
|
NM_000022.4(ADA):c.596A>C (p.Gln199Pro)
|
rs121908734
|
|
NM_000022.4(ADA):c.698C>T (p.Thr233Ile)
|
rs121908729
|
|
NM_000062.3(SERPING1):c.1289T>A (p.Leu430Gln)
|
rs281875174
|
|
NM_000062.3(SERPING1):c.1322T>C (p.Met441Thr)
|
rs281875175
|
|
NM_000062.3(SERPING1):c.1340T>C (p.Leu447Pro)
|
rs281875176
|
|
NM_000062.3(SERPING1):c.1396C>A (p.Arg466Ser)
|
rs28940870
|
|
NM_000062.3(SERPING1):c.1396C>T (p.Arg466Cys)
|
rs28940870
|
|
NM_000062.3(SERPING1):c.1397G>T (p.Arg466Leu)
|
rs121907948
|
|
NM_000062.3(SERPING1):c.1418T>G (p.Val473Gly)
|
rs281875177
|
|
NM_000062.3(SERPING1):c.1490A>G (p.Asp497Gly)
|
rs281875178
|
|
NM_000062.3(SERPING1):c.461A>G (p.Tyr154Cys)
|
rs281875168
|
|
NM_000062.3(SERPING1):c.509C>T (p.Ser170Phe)
|
rs281875169
|
|
NM_000062.3(SERPING1):c.550G>A (p.Gly184Arg)
|
rs281875170
|
|
NM_000062.3(SERPING1):c.689T>C (p.Leu230Pro)
|
rs281875171
|
|
NM_000062.3(SERPING1):c.695T>A (p.Ile232Lys)
|
rs281875172
|
|
NM_000062.3(SERPING1):c.895T>C (p.Trp299Arg)
|
rs281875173
|
|
NM_000082.4(ERCC8):c.1083G>T (p.Trp361Cys)
|
rs281875221
|
|
NM_000082.4(ERCC8):c.582G>C (p.Trp194Cys)
|
rs281875223
|
|
NM_000082.4(ERCC8):c.605T>C (p.Leu202Ser)
|
rs281875224
|
|
NM_000101.4(CYBA):c.158A>T (p.Glu53Val)
|
rs179363893
|
|
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg)
|
rs104894514
|
|
NM_000101.4(CYBA):c.74G>T (p.Gly25Val)
|
rs179363891
|
|
NM_000128.4(F11):c.1079T>C (p.Leu360Pro)
|
rs281875254
|
|
NM_000128.4(F11):c.1201T>C (p.Trp401Arg)
|
rs281875262
|
|
NM_000128.4(F11):c.1361T>A (p.Ile454Lys)
|
rs281875241
|
|
NM_000128.4(F11):c.1442T>G (p.Ile481Ser)
|
rs281875242
|
|
NM_000128.4(F11):c.1507T>C (p.Ser503Pro)
|
rs140068026
|
|
NM_000128.4(F11):c.151A>C (p.Thr51Pro)
|
rs281875243
|
|
NM_000128.4(F11):c.152C>T (p.Thr51Ile)
|
rs281875252
|
|
NM_000128.4(F11):c.1531T>C (p.Tyr511His)
|
rs281875278
|
|
NM_000128.4(F11):c.1541G>T (p.Cys514Phe)
|
rs281875249
|
|
NM_000128.4(F11):c.159C>A (p.His53Gln)
|
rs281875261
|
|
NM_000128.4(F11):c.1822T>C (p.Tyr608His)
|
rs281875255
|
|
NM_000128.4(F11):c.452A>G (p.Tyr151Cys)
|
rs281875273
|
|
NM_000128.4(F11):c.664G>T (p.Asp222Tyr)
|
rs281875245
|
|
NM_000128.4(F11):c.738G>C (p.Trp246Cys)
|
rs281875279
|
|
NM_000128.4(F11):c.755G>C (p.Arg252Thr)
|
rs281875260
|
|
NM_000128.4(F11):c.764G>A (p.Cys255Tyr)
|
rs281875277
|
|
NM_000128.4(F11):c.788G>A (p.Gly263Glu)
|
rs281875274
|
|
NM_000128.4(F11):c.827C>G (p.Ser276Cys)
|
rs281875247
|
|
NM_000128.4(F11):c.830G>A (p.Gly277Asp)
|
rs281875248
|
|
NM_000128.4(F11):c.94G>A (p.Gly32Arg)
|
rs281875259
|
|
NM_000128.4(F11):c.992C>T (p.Thr331Ile)
|
rs281875253
|
|
NM_000207.3(INS):c.104T>C (p.Leu35Pro)
|
rs121908273
|
|
NM_000207.3(INS):c.127T>G (p.Cys43Gly)
|
rs80356666
|
|
NM_000207.3(INS):c.137G>A (p.Arg46Gln)
|
rs121908260
|
|
NM_000207.3(INS):c.140G>T (p.Gly47Val)
|
rs80356667
|
|
NM_000207.3(INS):c.143T>G (p.Phe48Cys)
|
rs80356668
|
|
NM_000207.3(INS):c.163C>T (p.Arg55Cys)
|
rs121908261
|
|
NM_000207.3(INS):c.250G>A (p.Gly84Arg)
|
rs121908274
|
|
NM_000207.3(INS):c.265C>T (p.Arg89Cys)
|
rs80356669
|
|
NM_000207.3(INS):c.268G>T (p.Gly90Cys)
|
rs80356670
|
|
NM_000207.3(INS):c.287G>A (p.Cys96Tyr)
|
rs80356671
|
|
NM_000207.3(INS):c.287G>C (p.Cys96Ser)
|
rs80356671
|
|
NM_000207.3(INS):c.302C>G (p.Ser101Cys)
|
rs121908276
|
|
NM_000207.3(INS):c.308A>G (p.Tyr103Cys)
|
rs121908277
|
|
NM_000207.3(INS):c.323A>G (p.Tyr108Cys)
|
rs80356672
|
|
NM_000207.3(INS):c.71C>A (p.Ala24Asp)
|
rs80356663
|
|
NM_000207.3(INS):c.85C>G (p.His29Asp)
|
rs121908272
|
|
NM_000207.3(INS):c.94G>A (p.Gly32Ser)
|
rs80356664
|
|
NM_000207.3(INS):c.94G>C (p.Gly32Arg)
|
rs80356664
|
|
NM_000211.5(ITGB2):c.2147G>C (p.Gly716Ala)
|
rs179363872
|
|
NM_000211.5(ITGB2):c.382G>T (p.Asp128Tyr)
|
rs137852615
|
|
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr)
|
rs179363873
|
|
NM_000211.5(ITGB2):c.899A>T (p.Asp300Val)
|
rs179363874
|
|
NM_000276.4(OCRL):c.1060A>C (p.Asn354His)
|
rs137853833
|
|
NM_000276.4(OCRL):c.1070G>A (p.Gly357Glu)
|
rs137853854
|
|
NM_000276.4(OCRL):c.1082G>T (p.Arg361Ile)
|
rs137853832
|
|
NM_000276.4(OCRL):c.1115T>G (p.Val372Gly)
|
rs137853834
|
|
NM_000276.4(OCRL):c.1117A>T (p.Asn373Tyr)
|
rs137853835
|
|
NM_000276.4(OCRL):c.1121C>T (p.Ser374Phe)
|
rs137853836
|
|
NM_000276.4(OCRL):c.1123C>T (p.His375Tyr)
|
rs137853848
|
|
NM_000276.4(OCRL):c.1241A>G (p.His414Arg)
|
rs137853837
|
|
NM_000276.4(OCRL):c.1262G>A (p.Gly421Glu)
|
rs137853855
|
|
NM_000276.4(OCRL):c.1270A>G (p.Asn424Asp)
|
rs137853856
|
|
NM_000276.4(OCRL):c.1351G>A (p.Asp451Asn)
|
rs137853838
|
|
NM_000276.4(OCRL):c.1352A>G (p.Asp451Gly)
|
rs137853850
|
|
NM_000276.4(OCRL):c.1369C>G (p.Arg457Gly)
|
rs137853839
|
|
NM_000276.4(OCRL):c.1388T>C (p.Phe463Ser)
|
rs137853851
|
|
NM_000276.4(OCRL):c.1402G>A (p.Glu468Lys)
|
rs137853840
|
|
NM_000276.4(OCRL):c.1403A>G (p.Glu468Gly)
|
rs137853841
|
|
NM_000276.4(OCRL):c.1436A>G (p.Tyr479Cys)
|
rs137853262
|
|
NM_000276.4(OCRL):c.1477C>T (p.Arg493Trp)
|
rs137853846
|
|
NM_000276.4(OCRL):c.1493G>A (p.Cys498Tyr)
|
rs137853857
|
|
NM_000276.4(OCRL):c.1495G>C (p.Asp499His)
|
rs137853842
|
|
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln)
|
rs137853260
|
|
NM_000276.4(OCRL):c.1507T>C (p.Trp503Arg)
|
rs137853843
|
|
NM_000276.4(OCRL):c.1523T>A (p.Val508Asp)
|
rs137853849
|
|
NM_000276.4(OCRL):c.1538A>G (p.Tyr513Cys)
|
rs137853847
|
|
NM_000276.4(OCRL):c.1566C>G (p.Ser522Arg)
|
rs137853853
|
|
NM_000276.4(OCRL):c.1571A>G (p.His524Arg)
|
rs137853852
|
|
NM_000276.4(OCRL):c.1572C>G (p.His524Gln)
|
rs137853261
|
|
NM_000276.4(OCRL):c.1577C>T (p.Pro526Leu)
|
rs137853858
|
|
NM_000276.4(OCRL):c.1773C>A (p.Asn591Lys)
|
rs137853844
|
|
NM_000276.4(OCRL):c.2672T>G (p.Leu891Arg)
|
rs137853845
|
|
NM_000276.4(OCRL):c.725T>C (p.Phe242Ser)
|
rs137853828
|
|
NM_000276.4(OCRL):c.821T>C (p.Ile274Thr)
|
rs137853829
|
|
NM_000276.4(OCRL):c.830A>G (p.Gln277Arg)
|
rs137853830
|
|
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys)
|
rs137853263
|
|
NM_000383.4(AIRE):c.230T>C (p.Phe77Ser)
|
rs179363887
|
|
NM_000383.4(AIRE):c.232T>A (p.Trp78Arg)
|
rs179363880
|
|
NM_000383.4(AIRE):c.238G>T (p.Val80Leu)
|
rs179363881
|
|
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys)
|
rs179363882
|
|
NM_000383.4(AIRE):c.269A>G (p.Tyr90Cys)
|
rs179363883
|
|
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg)
|
rs179363884
|
|
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys)
|
rs179363875
|
|
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu)
|
rs179363876
|
|
NM_000383.4(AIRE):c.47C>T (p.Thr16Met)
|
rs179363877
|
|
NM_000383.4(AIRE):c.86T>C (p.Leu29Pro)
|
rs179363879
|
|
NM_000383.4(AIRE):c.977C>A (p.Pro326Gln)
|
rs179363885
|
|
NM_000391.4(TPP1):c.1057A>C (p.Thr353Pro)
|
rs121908206
|
|
NM_000391.4(TPP1):c.1154T>A (p.Val385Asp)
|
rs121908198
|
|
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu)
|
rs121908199
|
|
NM_000391.4(TPP1):c.1361C>A (p.Ala454Glu)
|
rs121908201
|
|
NM_000391.4(TPP1):c.1444G>C (p.Gly482Arg)
|
rs121908208
|
|
NM_000391.4(TPP1):c.1630C>T (p.Pro544Ser)
|
rs121908210
|
|
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln)
|
rs121908204
|
|
NM_000391.4(TPP1):c.605C>T (p.Pro202Leu)
|
rs121908205
|
|
NM_000391.4(TPP1):c.829G>A (p.Val277Met)
|
rs121908207
|
|
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser)
|
rs119455958
|
|
NM_000391.4(TPP1):c.860T>A (p.Ile287Asn)
|
rs121908196
|
|
NM_000397.4(CYBB):c.1012C>T (p.His338Tyr)
|
rs151344484
|
|
NM_000397.4(CYBB):c.1016C>A (p.Pro339His)
|
rs151344470
|
|
NM_000397.4(CYBB):c.1025T>A (p.Leu342Gln)
|
rs151344495
|
|
NM_000397.4(CYBB):c.1031C>T (p.Ser344Phe)
|
rs151344485
|
|
NM_000397.4(CYBB):c.1067G>C (p.Arg356Pro)
|
rs151344471
|
|
NM_000397.4(CYBB):c.1166G>A (p.Gly389Glu)
|
rs137854586
|
|
NM_000397.4(CYBB):c.1166G>C (p.Gly389Ala)
|
rs137854586
|
|
NM_000397.4(CYBB):c.1214T>G (p.Met405Arg)
|
rs151344472
|
|
NM_000397.4(CYBB):c.121T>G (p.Tyr41Asp)
|
rs151344453
|
|
NM_000397.4(CYBB):c.1222G>A (p.Gly408Arg)
|
rs151344473
|
|
NM_000397.4(CYBB):c.1223G>A (p.Gly408Glu)
|
rs151344474
|
|
NM_000397.4(CYBB):c.1244C>A (p.Pro415His)
|
rs137854585
|
|
NM_000397.4(CYBB):c.1244C>T (p.Pro415Leu)
|
rs137854585
|
|
NM_000397.4(CYBB):c.1259T>C (p.Leu420Pro)
|
rs151344486
|
|
NM_000397.4(CYBB):c.1264T>C (p.Ser422Pro)
|
rs151344475
|
|
NM_000397.4(CYBB):c.1357T>C (p.Trp453Arg)
|
rs151344476
|
|
NM_000397.4(CYBB):c.1499A>G (p.Asp500Gly)
|
rs137854593
|
|
NM_000397.4(CYBB):c.1514T>G (p.Leu505Arg)
|
rs151344490
|
|
NM_000397.4(CYBB):c.1546T>C (p.Trp516Arg)
|
rs151344487
|
|
NM_000397.4(CYBB):c.1548G>T (p.Trp516Cys)
|
rs151344477
|
|
NM_000397.4(CYBB):c.1601T>A (p.Val534Asp)
|
rs151344478
|
|
NM_000397.4(CYBB):c.1609T>C (p.Cys537Arg)
|
rs151344454
|
|
NM_000397.4(CYBB):c.161G>T (p.Arg54Met)
|
rs151344479
|
|
NM_000397.4(CYBB):c.162G>C (p.Arg54Ser)
|
rs151344456
|
|
NM_000397.4(CYBB):c.1637T>C (p.Leu546Pro)
|
rs151344492
|
|
NM_000397.4(CYBB):c.164C>A (p.Ala55Asp)
|
rs151344480
|
|
NM_000397.4(CYBB):c.170C>A (p.Ala57Glu)
|
rs151344481
|
|
NM_000397.4(CYBB):c.175T>C (p.Cys59Arg)
|
rs151344457
|
|
NM_000397.4(CYBB):c.177C>G (p.Cys59Trp)
|
rs151344488
|
|
NM_000397.4(CYBB):c.301C>T (p.His101Tyr)
|
rs137854594
|
|
NM_000397.4(CYBB):c.302A>G (p.His101Arg)
|
rs137854591
|
|
NM_000397.4(CYBB):c.356A>G (p.His119Arg)
|
rs151344458
|
|
NM_000397.4(CYBB):c.466G>A (p.Ala156Thr)
|
rs137854590
|
|
NM_000397.4(CYBB):c.532A>C (p.Thr178Pro)
|
rs151344497
|
|
NM_000397.4(CYBB):c.535G>A (p.Gly179Arg)
|
rs151344491
|
|
NM_000397.4(CYBB):c.578C>T (p.Ser193Phe)
|
rs151344493
|
|
NM_000397.4(CYBB):c.58G>C (p.Gly20Arg)
|
rs151344455
|
|
NM_000397.4(CYBB):c.613T>A (p.Phe205Ile)
|
rs151344496
|
|
NM_000397.4(CYBB):c.625C>T (p.His209Tyr)
|
rs137854587
|
|
NM_000397.4(CYBB):c.626A>G (p.His209Arg)
|
rs151344482
|
|
NM_000397.4(CYBB):c.627T>A (p.His209Gln)
|
rs151344459
|
|
NM_000397.4(CYBB):c.664C>A (p.His222Asn)
|
rs151344460
|
|
NM_000397.4(CYBB):c.664C>T (p.His222Tyr)
|
rs151344460
|
|
NM_000397.4(CYBB):c.665A>G (p.His222Arg)
|
rs151344462
|
|
NM_000397.4(CYBB):c.667G>T (p.Gly223Ter)
|
rs151344463
|
|
NM_000397.4(CYBB):c.668G>T (p.Gly223Val)
|
rs151344464
|
|
NM_000397.4(CYBB):c.671C>G (p.Ala224Gly)
|
rs151344483
|
|
NM_000397.4(CYBB):c.674A>T (p.Glu225Val)
|
rs151344494
|
|
NM_000397.4(CYBB):c.692A>C (p.Gln231Pro)
|
rs151344498
|
|
NM_000397.4(CYBB):c.730T>C (p.Cys244Arg)
|
rs151344465
|
|
NM_000397.4(CYBB):c.731G>A (p.Cys244Tyr)
|
rs137854589
|
|
NM_000397.4(CYBB):c.731G>C (p.Cys244Ser)
|
rs137854589
|
|
NM_000397.4(CYBB):c.907C>A (p.His303Asn)
|
rs137854595
|
|
NM_000397.4(CYBB):c.911C>G (p.Pro304Arg)
|
rs137854596
|
|
NM_000397.4(CYBB):c.919A>C (p.Thr307Pro)
|
rs151344489
|
|
NM_000397.4(CYBB):c.925G>A (p.Glu309Lys)
|
rs151344466
|
|
NM_000397.4(CYBB):c.965G>A (p.Gly322Glu)
|
rs151344467
|
|
NM_000397.4(CYBB):c.973A>T (p.Ile325Phe)
|
rs151344468
|
|
NM_000397.4(CYBB):c.997T>C (p.Ser333Pro)
|
rs151344469
|
|
NM_000433.4(NCF2):c.125A>G (p.Asn42Ser)
|
rs137854514
|
|
NM_000433.4(NCF2):c.130G>C (p.Gly44Arg)
|
rs137854510
|
|
NM_000433.4(NCF2):c.130G>T (p.Gly44Cys)
|
rs137854510
|
|
NM_000433.4(NCF2):c.233G>A (p.Gly78Glu)
|
rs137854519
|
|
NM_000433.4(NCF2):c.279C>G (p.Asp93Glu)
|
rs137854507
|
|
NM_000433.4(NCF2):c.305G>C (p.Arg102Pro)
|
rs137854515
|
|
NM_000433.4(NCF2):c.323A>T (p.Asp108Val)
|
rs137854509
|
|
NM_000433.4(NCF2):c.409T>A (p.Trp137Arg)
|
rs137854516
|
|
NM_000433.4(NCF2):c.419C>A (p.Ala140Asp)
|
rs137854520
|
|
NM_000433.4(NCF2):c.505C>G (p.Gln169Glu)
|
rs137854517
|
|
NM_000433.4(NCF2):c.983G>A (p.Arg328Lys)
|
rs137854511
|
|
NM_000448.3(RAG1):c.1187G>T (p.Arg396Leu)
|
rs104894291
|
|
NM_000448.3(RAG1):c.1201T>C (p.Ser401Pro)
|
rs199474682
|
|
NM_000448.3(RAG1):c.1297G>A (p.Val433Met)
|
rs199474679
|
|
NM_000448.3(RAG1):c.1361T>A (p.Leu454Gln)
|
rs199474677
|
|
NM_000448.3(RAG1):c.1677G>T (p.Arg559Ser)
|
rs199474681
|
|
NM_000448.3(RAG1):c.2006A>G (p.Glu669Gly)
|
rs199474689
|
|
NM_000448.3(RAG1):c.2564A>T (p.Asn855Ile)
|
rs199474690
|
|
NM_000448.3(RAG1):c.2654T>G (p.Leu885Arg)
|
rs199474691
|
|
NM_000448.3(RAG1):c.730A>G (p.Arg244Gly)
|
rs199474683
|
|
NM_000487.6(ARSA):c.100G>A (p.Gly34Ser)
|
rs199476350
|
|
NM_000487.6(ARSA):c.1107G>C (p.Lys369Asn)
|
rs199476369
|
|
NM_000487.6(ARSA):c.1132T>A (p.Tyr378Asn)
|
rs199476344
|
|
NM_000487.6(ARSA):c.1149C>G (p.Asp383Glu)
|
rs6151425
|
|
NM_000487.6(ARSA):c.1222A>G (p.Ser408Gly)
|
rs199476361
|
|
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro)
|
rs199476392
|
|
NM_000487.6(ARSA):c.1412C>G (p.Ala471Gly)
|
rs199476385
|
|
NM_000487.6(ARSA):c.161T>C (p.Leu54Pro)
|
rs199476357
|
|
NM_000487.6(ARSA):c.209T>C (p.Leu70Pro)
|
rs199476351
|
|
NM_000487.6(ARSA):c.233T>C (p.Leu78Pro)
|
rs199476362
|
|
NM_000487.6(ARSA):c.286C>G (p.Pro96Ala)
|
rs199476353
|
|
NM_000487.6(ARSA):c.290G>A (p.Ser97Asn)
|
rs199476363
|
|
NM_000487.6(ARSA):c.292_293delinsCT (p.Ser98Leu)
|
rs199476371
|
|
NM_000487.6(ARSA):c.302G>T (p.Gly101Val)
|
rs74315455
|
|
NM_000487.6(ARSA):c.361G>A (p.Gly121Arg)
|
rs199476364
|
|
NM_000487.6(ARSA):c.412C>T (p.Pro138Ser)
|
rs60504011
|
|
NM_000487.6(ARSA):c.418C>G (p.His140Asp)
|
rs199476358
|
|
NM_000487.6(ARSA):c.433C>G (p.Arg145Gly)
|
rs199476373
|
|
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)
|
rs199476375
|
|
NM_000487.6(ARSA):c.460G>T (p.Asp154Tyr)
|
rs199476365
|
|
NM_000487.6(ARSA):c.465G>C (p.Gln155His)
|
rs199476377
|
|
NM_000487.6(ARSA):c.472T>C (p.Cys158Arg)
|
rs199476348
|
|
NM_000487.6(ARSA):c.521G>A (p.Cys174Tyr)
|
rs199476381
|
|
NM_000487.6(ARSA):c.548T>A (p.Leu183Gln)
|
rs199476378
|
|
NM_000487.6(ARSA):c.576G>C (p.Gln192His)
|
rs199476372
|
|
NM_000487.6(ARSA):c.59C>A (p.Ala20Asp)
|
rs199476339
|
|
NM_000487.6(ARSA):c.640G>C (p.Ala214Pro)
|
rs199476341
|
|
NM_000487.6(ARSA):c.661T>G (p.Phe221Val)
|
rs199476383
|
|
NM_000487.6(ARSA):c.755C>A (p.Ser252Tyr)
|
rs199476367
|
|
NM_000487.6(ARSA):c.851A>G (p.Asn284Ser)
|
rs199476342
|
|
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp)
|
rs199476387
|
|
NM_000487.6(ARSA):c.899T>C (p.Leu300Ser)
|
rs199476389
|
|
NM_000487.6(ARSA):c.905G>T (p.Cys302Phe)
|
rs74315484
|
|
NM_000487.6(ARSA):c.917C>T (p.Thr306Met)
|
rs199476359
|
|
NM_000487.6(ARSA):c.91G>A (p.Asp31Asn)
|
rs199476346
|
|
NM_000487.6(ARSA):c.922T>C (p.Tyr308His)
|
rs199476379
|
|
NM_000487.6(ARSA):c.929G>A (p.Gly310Asp)
|
rs199476356
|
|
NM_000487.6(ARSA):c.929G>T (p.Gly310Val)
|
rs199476356
|
|
NM_000487.6(ARSA):c.942G>T (p.Glu314Asp)
|
rs199476390
|
|
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr)
|
rs199476368
|
|
NM_000487.6(ARSA):c.94G>C (p.Asp32His)
|
rs199476340
|
|
NM_001004334.4(GPR179):c.1364G>A (p.Gly455Asp)
|
rs281875235
|
|
NM_001004334.4(GPR179):c.1807C>T (p.His603Tyr)
|
rs281875234
|
|
NM_001004334.4(GPR179):c.376G>C (p.Asp126His)
|
rs281875233
|
|
NM_001042492.3(NF1):c.1010A>T (p.Glu337Val)
|
rs199474736
|
|
NM_001042492.3(NF1):c.1013A>G (p.Asp338Gly)
|
rs199474773
|
|
NM_001042492.3(NF1):c.1177C>G (p.His393Asp)
|
rs199474768
|
|
NM_001042492.3(NF1):c.1178A>T (p.His393Leu)
|
rs199474769
|
|
NM_001042492.3(NF1):c.1556A>C (p.Gln519Pro)
|
rs199474770
|
|
NM_001042492.3(NF1):c.1595T>C (p.Leu532Pro)
|
rs199474737
|
|
NM_001042492.3(NF1):c.1646T>C (p.Leu549Pro)
|
rs199474758
|
|
NM_001042492.3(NF1):c.1733T>G (p.Leu578Arg)
|
rs199474774
|
|
NM_001042492.3(NF1):c.1742T>C (p.Ile581Thr)
|
rs199474759
|
|
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)
|
rs199474760
|
|
NM_001042492.3(NF1):c.1810T>G (p.Leu604Val)
|
rs142712751
|
|
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)
|
rs199474738
|
|
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro)
|
rs199474761
|
|
NM_001042492.3(NF1):c.2135A>G (p.His712Arg)
|
rs199474727
|
|
NM_001042492.3(NF1):c.221C>A (p.Ala74Asp)
|
rs199474726
|
|
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro)
|
rs199474762
|
|
NM_001042492.3(NF1):c.2326G>A (p.Ala776Thr)
|
rs199474771
|
|
NM_001042492.3(NF1):c.2330G>C (p.Trp777Ser)
|
rs199474745
|
|
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys)
|
rs199474746
|
|
NM_001042492.3(NF1):c.2342A>C (p.His781Pro)
|
rs199474763
|
|
NM_001042492.3(NF1):c.2352G>C (p.Trp784Cys)
|
rs199474778
|
|
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe)
|
rs199474729
|
|
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe)
|
rs199474785
|
|
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro)
|
rs137854566
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
rs199474747
|
|
NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu)
|
rs199474748
|
|
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)
|
rs199474786
|
|
NM_001042492.3(NF1):c.2759T>C (p.Leu920Pro)
|
rs199474775
|
|
NM_001042492.3(NF1):c.2903T>G (p.Met968Arg)
|
rs199474749
|
|
NM_001042492.3(NF1):c.3440T>C (p.Leu1147Pro)
|
rs199474779
|
|
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser)
|
rs199474764
|
|
NM_001042492.3(NF1):c.3497G>A (p.Gly1166Asp)
|
rs199474787
|
|
NM_001042492.3(NF1):c.350T>G (p.Ile117Ser)
|
rs199474731
|
|
NM_001042492.3(NF1):c.3578T>G (p.Phe1193Cys)
|
rs199474780
|
|
NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg)
|
rs199474741
|
|
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)
|
rs199474732
|
|
NM_001042492.3(NF1):c.3749G>C (p.Arg1250Pro)
|
rs199474765
|
|
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)
|
rs199474742
|
|
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe)
|
rs199474789
|
|
NM_001042492.3(NF1):c.4318A>C (p.Lys1440Gln)
|
rs199474790
|
|
NM_001042492.3(NF1):c.4319A>G (p.Lys1440Arg)
|
rs199474788
|
|
NM_001042492.3(NF1):c.4331A>G (p.Lys1444Arg)
|
rs199474781
|
|
NM_001042492.3(NF1):c.4332G>T (p.Lys1444Asn)
|
rs199474750
|
|
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro)
|
rs199474733
|
|
NM_001042492.3(NF1):c.434T>C (p.Leu145Pro)
|
rs199474734
|
|
NM_001042492.3(NF1):c.4352A>C (p.Asn1451Thr)
|
rs199474754
|
|
NM_001042492.3(NF1):c.4357G>C (p.Val1453Leu)
|
rs199474755
|
|
NM_001042492.3(NF1):c.4451C>T (p.Ser1484Phe)
|
rs199474772
|
|
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly)
|
rs199474743
|
|
NM_001042492.3(NF1):c.470T>A (p.Ile157Asn)
|
rs199474744
|
|
NM_001042492.3(NF1):c.479G>C (p.Arg160Thr)
|
rs199474752
|
|
NM_001042492.3(NF1):c.5353G>T (p.Ala1785Ser)
|
rs199474782
|
|
NM_001042492.3(NF1):c.581T>G (p.Leu194Arg)
|
rs199474753
|
|
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg)
|
rs199474791
|
|
NM_001042492.3(NF1):c.5858T>C (p.Leu1953Pro)
|
rs199474792
|
|
NM_001042492.3(NF1):c.6001G>A (p.Gly2001Arg)
|
rs199474751
|
|
NM_001042492.3(NF1):c.6034G>A (p.Asp2012Asn)
|
rs199474783
|
|
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro)
|
rs199474756
|
|
NM_001042492.3(NF1):c.6661C>G (p.Pro2221Ala)
|
rs199474776
|
|
NM_001042492.3(NF1):c.7069G>A (p.Glu2357Lys)
|
rs199474784
|
|
NM_001042492.3(NF1):c.92A>G (p.His31Arg)
|
rs199474725
|
|
NM_001042492.3(NF1):c.970T>C (p.Cys324Arg)
|
rs199474735
|
|
NM_001042492.3(NF1):c.988G>A (p.Ala330Thr)
|
rs199474767
|
|
NM_001059.3(TACR3):c.1057C>T (p.Pro353Ser)
|
rs121918125
|
|
NM_001099857.5(IKBKG):c.1250G>A (p.Cys417Tyr)
|
rs137853326
|
|
NM_001099857.5(IKBKG):c.1250G>T (p.Cys417Phe)
|
rs137853326
|
|
NM_001099857.5(IKBKG):c.517C>G (p.Arg173Gly)
|
rs179363866
|
|
NM_001099857.5(IKBKG):c.524G>C (p.Arg175Pro)
|
rs179363868
|
|
NM_001099857.5(IKBKG):c.680T>C (p.Leu227Pro)
|
rs179363869
|
|
NM_001099857.5(IKBKG):c.931G>A (p.Asp311Asn)
|
rs179363867
|
|
NM_001099857.5(IKBKG):c.967G>C (p.Ala323Pro)
|
rs179363865
|
|
NM_001101.5(ACTB):c.193C>G (p.Leu65Val)
|
rs281875332
|
|
NM_001101.5(ACTB):c.34A>G (p.Asn12Asp)
|
rs281875331
|
|
NM_001101.5(ACTB):c.586C>T (p.Arg196Cys)
|
rs281875333
|
|
NM_001101.5(ACTB):c.587G>A (p.Arg196His)
|
rs281875334
|
|
NM_001127222.2(CACNA1A):c.1165C>T (p.Leu389Phe)
|
rs121908239
|
|
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)
|
rs121908217
|
|
NM_001127222.2(CACNA1A):c.1910G>A (p.Gly637Asp)
|
rs121908246
|
|
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)
|
rs121908212
|
|
NM_001127222.2(CACNA1A):c.2138T>C (p.Val713Ala)
|
rs121908213
|
|
NM_001127222.2(CACNA1A):c.2142C>G (p.Asp714Glu)
|
rs121908218
|
|
NM_001127222.2(CACNA1A):c.2390T>C (p.Met797Thr)
|
rs121908241
|
|
NM_001127222.2(CACNA1A):c.4000A>G (p.Lys1334Glu)
|
rs121908223
|
|
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln)
|
rs121908230
|
|
NM_001127222.2(CACNA1A):c.4148A>G (p.Tyr1383Cys)
|
rs121908219
|
|
NM_001127222.2(CACNA1A):c.4205T>G (p.Phe1402Cys)
|
rs121908227
|
|
NM_001127222.2(CACNA1A):c.4363G>T (p.Val1455Leu)
|
rs121908237
|
|
NM_001127222.2(CACNA1A):c.4441G>A (p.Gly1481Arg)
|
rs121908232
|
|
NM_001127222.2(CACNA1A):c.4466T>C (p.Phe1489Ser)
|
rs121908233
|
|
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)
|
rs121908216
|
|
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
|
rs121908247
|
|
NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp)
|
rs121908220
|
|
NM_001127222.2(CACNA1A):c.5044T>C (p.Trp1682Arg)
|
rs121908221
|
|
NM_001127222.2(CACNA1A):c.5080G>A (p.Val1694Ile)
|
rs121908224
|
|
NM_001127222.2(CACNA1A):c.5204A>T (p.His1735Leu)
|
rs121908229
|
|
NM_001127222.2(CACNA1A):c.5263G>A (p.Glu1755Lys)
|
rs121908226
|
|
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu)
|
rs121908214
|
|
NM_001127222.2(CACNA1A):c.5529-1195T>C
|
rs121908244
|
|
NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln)
|
rs121908211
|
|
NM_001127222.2(CACNA1A):c.584G>A (p.Arg195Lys)
|
rs121908222
|
|
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu)
|
rs121908225
|
|
NM_001127222.2(CACNA1A):c.743A>G (p.Tyr248Cys)
|
rs121908238
|
|
NM_001127222.2(CACNA1A):c.757C>T (p.His253Tyr)
|
rs121908228
|
|
NM_001127222.2(CACNA1A):c.766T>C (p.Cys256Arg)
|
rs121908231
|
|
NM_001127222.2(CACNA1A):c.860G>A (p.Cys287Tyr)
|
rs121908236
|
|
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg)
|
rs121908215
|
|
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp)
|
rs121908980
|
|
NM_001164277.2(SLC37A4):c.1118C>A (p.Ala373Asp)
|
rs193302901
|
|
NM_001164277.2(SLC37A4):c.1126G>A (p.Gly376Ser)
|
rs193302897
|
|
NM_001164277.2(SLC37A4):c.148G>C (p.Gly50Arg)
|
rs193302894
|
|
NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu)
|
rs193302877
|
|
NM_001164277.2(SLC37A4):c.162C>A (p.Ser54Arg)
|
rs193302898
|
|
NM_001164277.2(SLC37A4):c.163A>C (p.Ser55Arg)
|
rs193302884
|
|
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg)
|
rs193302885
|
|
NM_001164277.2(SLC37A4):c.254T>C (p.Leu85Pro)
|
rs193302899
|
|
NM_001164277.2(SLC37A4):c.263G>A (p.Gly88Asp)
|
rs193302886
|
|
NM_001164277.2(SLC37A4):c.398A>C (p.Gln133Pro)
|
rs193302896
|
|
NM_001164277.2(SLC37A4):c.526T>C (p.Cys176Arg)
|
rs193302895
|
|
NM_001164277.2(SLC37A4):c.547T>C (p.Cys183Arg)
|
rs193302893
|
|
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu)
|
rs193302888
|
|
NM_001164277.2(SLC37A4):c.70T>C (p.Tyr24His)
|
rs193302887
|
|
NM_001164277.2(SLC37A4):c.736T>C (p.Trp246Arg)
|
rs193302878
|
|
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)
|
rs193302903
|
|
NM_001164277.2(SLC37A4):c.902A>C (p.His301Pro)
|
rs193302891
|
|
NM_001165963.4(SCN1A):c.1028G>A (p.Gly343Asp)
|
rs121918753
|
|
NM_001165963.4(SCN1A):c.1066A>G (p.Arg356Gly)
|
rs121917920
|
|
NM_001165963.4(SCN1A):c.1072C>A (p.Pro358Thr)
|
rs121917923
|
|
NM_001165963.4(SCN1A):c.1098T>A (p.Asp366Glu)
|
rs121917958
|
|
NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln)
|
rs121917957
|
|
NM_001165963.4(SCN1A):c.1149C>G (p.Phe383Leu)
|
rs121917939
|
|
NM_001165963.4(SCN1A):c.1162T>C (p.Tyr388His)
|
rs121918781
|
|
NM_001165963.4(SCN1A):c.1177C>A (p.Arg393Ser)
|
rs121917929
|
|
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)
|
rs121917929
|
|
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)
|
rs121917927
|
|
NM_001165963.4(SCN1A):c.1183G>C (p.Ala395Pro)
|
rs121917988
|
|
NM_001165963.4(SCN1A):c.1207T>C (p.Phe403Leu)
|
rs121917966
|
|
NM_001165963.4(SCN1A):c.1216G>T (p.Val406Phe)
|
rs121918768
|
|
NM_001165963.4(SCN1A):c.1237T>A (p.Tyr413Asn)
|
rs121917967
|
|
NM_001165963.4(SCN1A):c.1265T>A (p.Val422Glu)
|
rs121917989
|
|
NM_001165963.4(SCN1A):c.1276T>A (p.Tyr426Asn)
|
rs121917940
|
|
NM_001165963.4(SCN1A):c.1876A>G (p.Ser626Gly)
|
rs121917990
|
|
NM_001165963.4(SCN1A):c.220T>C (p.Ser74Pro)
|
rs121917931
|
|
NM_001165963.4(SCN1A):c.2348T>C (p.Leu783Pro)
|
rs121917968
|
|
NM_001165963.4(SCN1A):c.234G>T (p.Glu78Asp)
|
rs121917933
|
|
NM_001165963.4(SCN1A):c.235G>C (p.Asp79His)
|
rs121917982
|
|
NM_001165963.4(SCN1A):c.2369A>G (p.Tyr790Cys)
|
rs121918782
|
|
NM_001165963.4(SCN1A):c.2422A>T (p.Thr808Ser)
|
rs121918758
|
|
NM_001165963.4(SCN1A):c.2435C>G (p.Thr812Arg)
|
rs121917941
|
|
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys)
|
rs121917964
|
|
NM_001165963.4(SCN1A):c.2536G>A (p.Glu846Lys)
|
rs121917942
|
|
NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys)
|
rs121918784
|
|
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln)
|
rs121918785
|
|
NM_001165963.4(SCN1A):c.2624C>A (p.Thr875Lys)
|
rs121918623
|
|
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met)
|
rs121918623
|
|
NM_001165963.4(SCN1A):c.269T>C (p.Phe90Ser)
|
rs121918733
|
|
NM_001165963.4(SCN1A):c.2705T>G (p.Phe902Cys)
|
rs121918787
|
|
NM_001165963.4(SCN1A):c.272T>C (p.Ile91Thr)
|
rs121918734
|
|
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys)
|
rs121918788
|
|
NM_001165963.4(SCN1A):c.2802G>C (p.Met934Ile)
|
rs121918774
|
|
NM_001165963.4(SCN1A):c.2815C>T (p.His939Tyr)
|
rs121918736
|
|
NM_001165963.4(SCN1A):c.2817C>G (p.His939Gln)
|
rs121918795
|
|
NM_001165963.4(SCN1A):c.2825T>C (p.Leu942Pro)
|
rs121917943
|
|
NM_001165963.4(SCN1A):c.2831T>C (p.Val944Ala)
|
rs121917969
|
|
NM_001165963.4(SCN1A):c.2833T>C (p.Phe945Leu)
|
rs121917970
|
|
NM_001165963.4(SCN1A):c.2836C>A (p.Arg946Ser)
|
rs121918775
|
|
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys)
|
rs121918775
|
|
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
|
|
|
NM_001165963.4(SCN1A):c.2849G>A (p.Gly950Glu)
|
rs121917972
|
|
NM_001165963.4(SCN1A):c.2854T>G (p.Trp952Gly)
|
rs121918737
|
|
NM_001165963.4(SCN1A):c.2860G>A (p.Glu954Lys)
|
rs121918786
|
|
NM_001165963.4(SCN1A):c.2870G>T (p.Trp957Leu)
|
rs121917917
|
|
NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg)
|
rs121918796
|
|
NM_001165963.4(SCN1A):c.2878A>G (p.Met960Val)
|
rs121918750
|
|
NM_001165963.4(SCN1A):c.2917A>G (p.Met973Val)
|
rs121917991
|
|
NM_001165963.4(SCN1A):c.2935G>A (p.Gly979Arg)
|
rs121918754
|
|
NM_001165963.4(SCN1A):c.2948T>C (p.Val983Ala)
|
rs121918756
|
|
NM_001165963.4(SCN1A):c.2954A>T (p.Asn985Ile)
|
rs121918747
|
|
NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe)
|
rs121918625
|
|
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)
|
rs121917965
|
|
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)
|
rs121917918
|
|
NM_001165963.4(SCN1A):c.3032A>T (p.Asn1011Ile)
|
rs121918759
|
|
NM_001165963.4(SCN1A):c.307A>G (p.Ser103Gly)
|
rs121918743
|
|
NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile)
|
rs121918745
|
|
NM_001165963.4(SCN1A):c.354G>C (p.Arg118Ser)
|
rs121917959
|
|
NM_001165963.4(SCN1A):c.3610T>C (p.Trp1204Arg)
|
rs121917930
|
|
NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro)
|
rs121917963
|
|
NM_001165963.4(SCN1A):c.3629C>A (p.Thr1210Lys)
|
rs121918738
|
|
NM_001165963.4(SCN1A):c.3692G>C (p.Ser1231Thr)
|
rs121918800
|
|
NM_001165963.4(SCN1A):c.3693T>A (p.Ser1231Arg)
|
rs121918746
|
|
NM_001165963.4(SCN1A):c.3697G>C (p.Gly1233Arg)
|
rs121917911
|
|
NM_001165963.4(SCN1A):c.371T>A (p.Ile124Asn)
|
rs121918761
|
|
NM_001165963.4(SCN1A):c.3778A>C (p.Thr1260Pro)
|
rs121918739
|
|
NM_001165963.4(SCN1A):c.3789C>G (p.Phe1263Leu)
|
rs121918752
|
|
NM_001165963.4(SCN1A):c.3794T>C (p.Leu1265Pro)
|
rs121918794
|
|
NM_001165963.4(SCN1A):c.3809A>C (p.Lys1270Thr)
|
rs121918626
|
|
NM_001165963.4(SCN1A):c.3860T>C (p.Leu1287Pro)
|
rs121918740
|
|
NM_001165963.4(SCN1A):c.3976G>C (p.Ala1326Pro)
|
rs121918803
|
|
NM_001165963.4(SCN1A):c.4003G>A (p.Val1335Met)
|
rs121917960
|
|
NM_001165963.4(SCN1A):c.4057G>C (p.Val1353Leu)
|
rs121917954
|
|
NM_001165963.4(SCN1A):c.4064T>C (p.Leu1355Pro)
|
rs121918776
|
|
NM_001165963.4(SCN1A):c.4073G>C (p.Trp1358Ser)
|
rs121917961
|
|
NM_001165963.4(SCN1A):c.4101T>A (p.Asn1367Lys)
|
rs121918760
|
|
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met)
|
rs121917986
|
|
NM_001165963.4(SCN1A):c.4186T>G (p.Cys1396Gly)
|
rs121917987
|
|
NM_001165963.4(SCN1A):c.4240A>T (p.Asn1414Tyr)
|
rs121917925
|
|
NM_001165963.4(SCN1A):c.4265A>G (p.Tyr1422Cys)
|
rs121917913
|
|
NM_001165963.4(SCN1A):c.4277T>G (p.Leu1426Arg)
|
rs121917944
|
|
NM_001165963.4(SCN1A):c.4283T>C (p.Val1428Ala)
|
rs121918627
|
|
NM_001165963.4(SCN1A):c.4297G>A (p.Gly1433Arg)
|
rs121917908
|
|
NM_001165963.4(SCN1A):c.4298G>A (p.Gly1433Glu)
|
rs121918741
|
|
NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg)
|
rs121918789
|
|
NM_001165963.4(SCN1A):c.4321G>C (p.Ala1441Pro)
|
rs121917974
|
|
NM_001165963.4(SCN1A):c.4348C>A (p.Gln1450Lys)
|
rs121918806
|
|
NM_001165963.4(SCN1A):c.4349A>G (p.Gln1450Arg)
|
rs121918790
|
|
NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr)
|
rs121918631
|
|
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu)
|
rs121917945
|
|
NM_001165963.4(SCN1A):c.4381C>A (p.Leu1461Ile)
|
rs121918772
|
|
NM_001165963.4(SCN1A):c.4385A>G (p.Tyr1462Cys)
|
rs121917962
|
|
NM_001165963.4(SCN1A):c.4388T>C (p.Phe1463Ser)
|
rs121917946
|
|
NM_001165963.4(SCN1A):c.4408G>T (p.Gly1470Trp)
|
rs121917924
|
|
NM_001165963.4(SCN1A):c.4424T>C (p.Leu1475Ser)
|
rs121917947
|
|
NM_001165963.4(SCN1A):c.4439G>T (p.Gly1480Val)
|
rs121917996
|
|
NM_001165963.4(SCN1A):c.4465C>A (p.Gln1489Lys)
|
rs121918628
|
|
NM_001165963.4(SCN1A):c.4467G>C (p.Gln1489His)
|
rs121918633
|
|
NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser)
|
rs121918764
|
|
NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val)
|
rs121917975
|
|
NM_001165963.4(SCN1A):c.4757G>A (p.Gly1586Glu)
|
rs121918742
|
|
NM_001165963.4(SCN1A):c.4762T>C (p.Cys1588Arg)
|
rs121917919
|
|
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)
|
rs121917993
|
|
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr)
|
rs121917915
|
|
NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe)
|
rs121918630
|
|
NM_001165963.4(SCN1A):c.484A>C (p.Thr162Pro)
|
rs121917934
|
|
NM_001165963.4(SCN1A):c.4888G>A (p.Val1630Met)
|
rs121917914
|
|
NM_001165963.4(SCN1A):c.4894C>T (p.Pro1632Ser)
|
rs121918755
|
|
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln)
|
rs121917995
|
|
NM_001165963.4(SCN1A):c.4910T>A (p.Val1637Glu)
|
rs121918810
|
|
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)
|
rs121917976
|
|
NM_001165963.4(SCN1A):c.4942C>T (p.Arg1648Cys)
|
rs121918791
|
|
NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His)
|
rs121918622
|
|
NM_001165963.4(SCN1A):c.4968C>G (p.Ile1656Met)
|
rs121917955
|
|
NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His)
|
rs121917994
|
|
NM_001165963.4(SCN1A):c.4973C>G (p.Thr1658Arg)
|
rs121917922
|
|
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met)
|
rs121917922
|
|
NM_001165963.4(SCN1A):c.4982T>C (p.Phe1661Ser)
|
rs121918797
|
|
NM_001165963.4(SCN1A):c.4991T>A (p.Met1664Lys)
|
rs121918765
|
|
NM_001165963.4(SCN1A):c.5002C>G (p.Pro1668Ala)
|
rs121917948
|
|
NM_001165963.4(SCN1A):c.5020G>C (p.Gly1674Arg)
|
rs121918792
|
|
NM_001165963.4(SCN1A):c.5054C>A (p.Ala1685Asp)
|
rs121918744
|
|
NM_001165963.4(SCN1A):c.5054C>T (p.Ala1685Val)
|
rs121918744
|
|
NM_001165963.4(SCN1A):c.5060T>C (p.Phe1687Ser)
|
rs121917932
|
|
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser)
|
rs121918778
|
|
NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys)
|
rs121918777
|
|
NM_001165963.4(SCN1A):c.5119T>G (p.Phe1707Val)
|
rs121917977
|
|
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile)
|
rs121918629
|
|
NM_001165963.4(SCN1A):c.512T>A (p.Ile171Lys)
|
rs121918766
|
|
NM_001165963.4(SCN1A):c.5138G>A (p.Ser1713Asn)
|
rs121918816
|
|
NM_001165963.4(SCN1A):c.5141T>G (p.Met1714Arg)
|
rs121917949
|
|
NM_001165963.4(SCN1A):c.5146T>C (p.Cys1716Arg)
|
rs121917926
|
|
NM_001165963.4(SCN1A):c.5162C>G (p.Thr1721Arg)
|
rs121917978
|
|
NM_001165963.4(SCN1A):c.5176T>C (p.Trp1726Arg)
|
rs121917979
|
|
NM_001165963.4(SCN1A):c.5225A>G (p.Asp1742Gly)
|
rs121918812
|
|
NM_001165963.4(SCN1A):c.523G>A (p.Ala175Thr)
|
rs121918767
|
|
NM_001165963.4(SCN1A):c.5246G>A (p.Gly1749Glu)
|
rs121918798
|
|
NM_001165963.4(SCN1A):c.5266T>G (p.Cys1756Gly)
|
rs121918809
|
|
NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu)
|
rs121917950
|
|
NM_001165963.4(SCN1A):c.530G>A (p.Gly177Glu)
|
rs121918770
|
|
NM_001165963.4(SCN1A):c.5318C>T (p.Ser1773Phe)
|
rs121917951
|
|
NM_001165963.4(SCN1A):c.5339T>C (p.Met1780Thr)
|
rs121917952
|
|
NM_001165963.4(SCN1A):c.5342A>G (p.Tyr1781Cys)
|
rs121918779
|
|
NM_001165963.4(SCN1A):c.5346C>G (p.Ile1782Met)
|
rs121918763
|
|
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)
|
rs121917980
|
|
NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val)
|
rs121917921
|
|
NM_001165963.4(SCN1A):c.5359G>A (p.Glu1787Lys)
|
rs121917916
|
|
NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys)
|
rs121918813
|
|
NM_001165963.4(SCN1A):c.5422T>C (p.Phe1808Leu)
|
rs121918757
|
|
NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly)
|
rs121918751
|
|
NM_001165963.4(SCN1A):c.5492T>C (p.Phe1831Ser)
|
rs121918748
|
|
NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr)
|
rs121918783
|
|
NM_001165963.4(SCN1A):c.5569G>T (p.Val1857Leu)
|
rs121918814
|
|
NM_001165963.4(SCN1A):c.5596G>T (p.Asp1866Tyr)
|
rs121918815
|
|
NM_001165963.4(SCN1A):c.563A>T (p.Asp188Val)
|
rs121917953
|
|
NM_001165963.4(SCN1A):c.5643G>C (p.Glu1881Asp)
|
rs121918804
|
|
NM_001165963.4(SCN1A):c.568T>C (p.Trp190Arg)
|
rs121918773
|
|
NM_001165963.4(SCN1A):c.571A>T (p.Asn191Tyr)
|
rs121918762
|
|
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile)
|
rs121918793
|
|
NM_001165963.4(SCN1A):c.5765T>C (p.Ile1922Thr)
|
rs121917981
|
|
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn)
|
rs121917935
|
|
NM_001165963.4(SCN1A):c.596C>G (p.Thr199Arg)
|
rs121917983
|
|
NM_001165963.4(SCN1A):c.650C>A (p.Thr217Lys)
|
rs121917936
|
|
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)
|
rs121917984
|
|
NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser)
|
rs121917937
|
|
NM_001165963.4(SCN1A):c.715G>A (p.Ala239Thr)
|
rs121917985
|
|
NM_001165963.4(SCN1A):c.716C>T (p.Ala239Val)
|
rs121917909
|
|
NM_001165963.4(SCN1A):c.755T>A (p.Ile252Asn)
|
rs121918780
|
|
NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg)
|
rs121918735
|
|
NM_001165963.4(SCN1A):c.793G>T (p.Gly265Trp)
|
rs121918749
|
|
NM_001165963.4(SCN1A):c.838T>C (p.Trp280Arg)
|
rs121917938
|
|
NM_001165963.4(SCN1A):c.965G>T (p.Arg322Ile)
|
rs121917928
|
|
NM_001363.5(DKC1):c.1049T>C (p.Met350Thr)
|
rs121912300
|
|
NM_001363.5(DKC1):c.1050G>A (p.Met350Ile)
|
rs121912298
|
|
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val)
|
rs121912288
|
|
NM_001363.5(DKC1):c.106T>G (p.Phe36Val)
|
rs121912293
|
|
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr)
|
rs28936072
|
|
NM_001363.5(DKC1):c.115A>G (p.Lys39Glu)
|
rs121912296
|
|
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg)
|
rs121912292
|
|
NM_001363.5(DKC1):c.1204G>A (p.Gly402Arg)
|
rs121912299
|
|
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu)
|
rs121912295
|
|
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys)
|
rs121912302
|
|
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu)
|
rs121912289
|
|
NM_001363.5(DKC1):c.146C>T (p.Thr49Met)
|
rs121912304
|
|
NM_001363.5(DKC1):c.166_167delinsTC (p.Leu56Ser)
|
rs121912287
|
|
NM_001363.5(DKC1):c.194G>C (p.Arg65Thr)
|
rs121912301
|
|
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala)
|
rs121912297
|
|
NM_001363.5(DKC1):c.214C>T (p.Leu72Phe)
|
rs121912306
|
|
NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr)
|
rs121912294
|
|
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)
|
rs121912305
|
|
NM_001363.5(DKC1):c.5C>T (p.Ala2Val)
|
rs121912303
|
|
NM_001363.5(DKC1):c.949C>T (p.Leu317Phe)
|
rs121912290
|
|
NM_001363.5(DKC1):c.961C>G (p.Leu321Val)
|
rs2728726
|
|
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln)
|
rs121912291
|
|
NM_001366385.1(CARD14):c.2919C>G (p.Asp973Glu)
|
rs144285237
|
|
NM_001366385.1(CARD14):c.413A>C (p.Glu138Ala)
|
rs281875214
|
|
NM_001366385.1(CARD14):c.424G>A (p.Glu142Lys)
|
rs281875212
|
|
NM_001366385.1(CARD14):c.425A>G (p.Glu142Gly)
|
rs281875213
|
|
NM_001366385.1(CARD14):c.511C>A (p.His171Asn)
|
rs281875216
|
|
NM_001366385.1(CARD14):c.599G>A (p.Ser200Asn)
|
rs114688446
|
|
NM_001366385.1(CARD14):c.854A>G (p.Asp285Gly)
|
rs281875219
|
|
NM_001379081.2(FREM1):c.1945C>T (p.Arg649Trp)
|
rs121912609
|
|
NM_001379081.2(FREM1):c.4318G>A (p.Gly1440Ser)
|
rs121912610
|
|
NM_001379081.2(FREM1):c.6271G>A (p.Val2091Ile)
|
rs281875282
|
|
NM_001614.5(ACTG1):c.354G>C (p.Lys118Asn)
|
rs267606630
|
|
NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile)
|
rs281875325
|
|
NM_001614.5(ACTG1):c.364A>G (p.Ile122Val)
|
rs281875330
|
|
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val)
|
rs11549190
|
|
NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe)
|
rs281875326
|
|
NM_001614.5(ACTG1):c.608C>A (p.Thr203Lys)
|
rs281875327
|
|
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys)
|
rs267606631
|
|
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp)
|
rs281875328
|
|
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp)
|
rs281875329
|
|
NM_002775.5(HTRA1):c.754G>A (p.Ala252Thr)
|
rs113993968
|
|
NM_003070.5(SMARCA2):c.2255G>C (p.Gly752Ala)
|
rs281875198
|
|
NM_003070.5(SMARCA2):c.2264A>G (p.Lys755Arg)
|
rs281875203
|
|
NM_003070.5(SMARCA2):c.2267C>T (p.Thr756Ile)
|
rs281875191
|
|
NM_003070.5(SMARCA2):c.2551G>C (p.Asp851His)
|
rs281875206
|
|
NM_003070.5(SMARCA2):c.2554G>A (p.Glu852Lys)
|
rs281875199
|
|
NM_003070.5(SMARCA2):c.2556A>C (p.Glu852Asp)
|
rs281875193
|
|
NM_003070.5(SMARCA2):c.2561A>G (p.His854Arg)
|
rs281875202
|
|
NM_003070.5(SMARCA2):c.2563C>G (p.Arg855Gly)
|
rs281875207
|
|
NM_003070.5(SMARCA2):c.2641G>C (p.Gly881Arg)
|
rs281875194
|
|
NM_003070.5(SMARCA2):c.2642G>T (p.Gly881Val)
|
rs281875185
|
|
NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu)
|
rs281875188
|
|
NM_003070.5(SMARCA2):c.2815C>T (p.His939Tyr)
|
rs281875190
|
|
NM_003070.5(SMARCA2):c.2837T>C (p.Leu946Ser)
|
rs281875200
|
|
NM_003070.5(SMARCA2):c.2838A>T (p.Leu946Phe)
|
rs281875205
|
|
NM_003070.5(SMARCA2):c.3313C>T (p.Arg1105Cys)
|
rs281875192
|
|
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro)
|
rs281875197
|
|
NM_003070.5(SMARCA2):c.3404T>C (p.Leu1135Pro)
|
rs281875195
|
|
NM_003070.5(SMARCA2):c.3436A>C (p.Ser1146Arg)
|
rs281875204
|
|
NM_003070.5(SMARCA2):c.3473A>T (p.Asp1158Val)
|
rs281875240
|
|
NM_003070.5(SMARCA2):c.3475C>G (p.Arg1159Gly)
|
rs281875184
|
|
NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln)
|
rs281875187
|
|
NM_003070.5(SMARCA2):c.3476G>T (p.Arg1159Leu)
|
rs281875187
|
|
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His)
|
rs281875186
|
|
NM_003070.5(SMARCA2):c.3562G>C (p.Ala1188Pro)
|
rs281875196
|
|
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val)
|
rs281875189
|
|
NM_003070.5(SMARCA2):c.3604G>T (p.Gly1202Cys)
|
rs281875239
|
|
NM_003070.5(SMARCA2):c.3614A>G (p.Asp1205Gly)
|
rs281875201
|
|
NM_003070.5(SMARCA2):c.3637C>T (p.Arg1213Trp)
|
rs281875238
|
|
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met)
|
rs281875226
|
|
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys)
|
rs281875227
|
|
NM_003072.5(SMARCA4):c.2761C>T (p.Leu921Phe)
|
rs281875228
|
|
NM_003072.5(SMARCA4):c.3032T>C (p.Met1011Thr)
|
rs281875229
|
|
NM_003072.5(SMARCA4):c.3469C>G (p.Arg1157Gly)
|
rs281875230
|
|
NM_004637.6(RAB7A):c.385C>T (p.Leu129Phe)
|
rs121909078
|
|
NM_004637.6(RAB7A):c.471G>C (p.Lys157Asn)
|
rs121909081
|
|
NM_004637.6(RAB7A):c.482A>C (p.Asn161Thr)
|
rs121909080
|
|
NM_004637.6(RAB7A):c.484G>A (p.Val162Met)
|
rs121909079
|
|
NM_004733.4(SLC33A1):c.328G>C (p.Ala110Pro)
|
rs281875283
|
|
NM_004738.5(VAPB):c.137C>T (p.Thr46Ile)
|
rs281875284
|
|
NM_004738.5(VAPB):c.166C>T (p.Pro56Ser)
|
rs74315431
|
|
NM_005189.3(CBX2):c.1328G>C (p.Arg443Pro)
|
rs121908256
|
|
NM_005189.3(CBX2):c.293C>T (p.Pro98Leu)
|
rs121908255
|
|
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn)
|
rs318240758
|
|
NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg)
|
rs121912581
|
|
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys)
|
rs80338963
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr)
|
rs281875321
|
|
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met)
|
rs281875320
|
|
NM_005359.6(SMAD4):c.989A>G (p.Glu330Gly)
|
rs281875324
|
|
NM_005546.4(ITK):c.1003C>T (p.Arg335Trp)
|
rs121908191
|
|
NM_006118.4(HAX1):c.389T>G (p.Leu130Arg)
|
rs179363871
|
|
NM_006118.4(HAX1):c.421T>C (p.Phe141Leu)
|
rs179363870
|
|
NM_006208.3(ENPP1):c.2702A>C (p.Tyr901Ser)
|
rs121908249
|
|
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val)
|
rs121908248
|
|
NM_006929.5(SKIC2):c.1022T>G (p.Val341Gly)
|
rs1582171003
|
|
NM_015166.4(MLC1):c.250C>T (p.Arg84Cys)
|
rs281875311
|
|
NM_015166.4(MLC1):c.353C>G (p.Thr118Arg)
|
rs281875316
|
|
NM_015166.4(MLC1):c.373T>C (p.Cys125Arg)
|
rs281875314
|
|
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg)
|
rs281875317
|
|
NM_015166.4(MLC1):c.733G>C (p.Ala245Pro)
|
rs281875312
|
|
NM_015166.4(MLC1):c.736A>C (p.Ser246Arg)
|
rs281875315
|
|
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys)
|
rs281875313
|
|
NM_019885.4(CYP26B1):c.1088G>T (p.Arg363Leu)
|
rs281875231
|
|
NM_019885.4(CYP26B1):c.436T>C (p.Ser146Pro)
|
rs281875232
|
|
NM_030787.4(CFHR5):c.1308G>T (p.Trp436Cys)
|
rs201265664
|
|
NM_030787.4(CFHR5):c.314T>G (p.Leu105Arg)
|
rs318240754
|
|
NM_080669.6(SLC46A1):c.1012G>C (p.Gly338Arg)
|
rs281875209
|
|
NM_080669.6(SLC46A1):c.1274C>G (p.Pro425Arg)
|
rs80338774
|
|
NM_080669.6(SLC46A1):c.337C>A (p.Arg113Ser)
|
rs80338770
|
|
NM_080669.6(SLC46A1):c.439G>C (p.Gly147Arg)
|
rs80338771
|
|
NM_080669.6(SLC46A1):c.466G>T (p.Asp156Tyr)
|
rs281875210
|
|
NM_133459.4(CCBE1):c.305G>C (p.Cys102Ser)
|
rs121908251
|
|
NM_133459.4(CCBE1):c.979G>C (p.Gly327Arg)
|
rs121908252
|
|
NM_139027.6(ADAMTS13):c.1039T>A (p.Cys347Ser)
|
rs281875294
|
|
NM_139027.6(ADAMTS13):c.1045C>T (p.Arg349Cys)
|
rs281875288
|
|
NM_139027.6(ADAMTS13):c.1523G>A (p.Cys508Tyr)
|
rs281875305
|
|
NM_139027.6(ADAMTS13):c.1574G>A (p.Gly525Asp)
|
rs281875286
|
|
NM_139027.6(ADAMTS13):c.2012C>T (p.Pro671Leu)
|
rs281875295
|
|
NM_139027.6(ADAMTS13):c.2017A>T (p.Ile673Phe)
|
rs281875307
|
|
NM_139027.6(ADAMTS13):c.2272T>C (p.Cys758Arg)
|
rs281875300
|
|
NM_139027.6(ADAMTS13):c.237C>G (p.Ile79Met)
|
rs281875297
|
|
NM_139027.6(ADAMTS13):c.262G>A (p.Val88Met)
|
rs281875302
|
|
NM_139027.6(ADAMTS13):c.2723G>A (p.Cys908Tyr)
|
rs281875301
|
|
NM_139027.6(ADAMTS13):c.2723G>C (p.Cys908Ser)
|
rs281875301
|
|
NM_139027.6(ADAMTS13):c.3548G>T (p.Gly1183Val)
|
rs281875303
|
|
NM_139027.6(ADAMTS13):c.356C>T (p.Ser119Phe)
|
rs281875291
|
|
NM_139027.6(ADAMTS13):c.533T>C (p.Ile178Thr)
|
rs281875289
|
|
NM_139027.6(ADAMTS13):c.607T>C (p.Ser203Pro)
|
rs281875298
|
|
NM_139027.6(ADAMTS13):c.695T>A (p.Leu232Gln)
|
rs281875292
|
|
NM_139027.6(ADAMTS13):c.702C>A (p.His234Gln)
|
rs281875304
|
|
NM_139027.6(ADAMTS13):c.703G>C (p.Asp235His)
|
rs281875337
|
|
NM_139027.6(ADAMTS13):c.788C>G (p.Ser263Cys)
|
rs281875293
|
|
NM_139027.6(ADAMTS13):c.932G>A (p.Cys311Tyr)
|
rs281875336
|
|
NM_145068.4(TRPV3):c.1717G>A (p.Gly573Ser)
|
rs199473704
|
|
NM_145068.4(TRPV3):c.1717G>T (p.Gly573Cys)
|
rs199473704
|
|
NM_145068.4(TRPV3):c.2074T>G (p.Trp692Gly)
|
rs199473705
|
|
NM_173630.4(RTTN):c.2796A>T (p.Leu932Phe)
|
rs318240757
|
|
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn)
|
rs3814290
|
|