NM_000791.4(DHFR):c.-416C>G
|
rs2001675
|
0.00949
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)
|
rs187964306
|
0.00596
|
NM_080425.4(GNAS):c.1455C>A (p.Ala485=)
|
rs55890501
|
0.00388
|
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly)
|
rs80207011
|
0.00261
|
NM_000268.4(NF2):c.*359G>A
|
rs572307337
|
0.00217
|
NM_003000.3(SDHB):c.32G>A (p.Arg11His)
|
rs111430410
|
0.00185
|
NM_003000.3(SDHB):c.423+20T>A
|
rs190139590
|
0.00179
|
NM_016169.4(SUFU):c.528C>T (p.His176=)
|
rs150569584
|
0.00148
|
NM_004168.4(SDHA):c.136A>G (p.Lys46Glu)
|
rs144599870
|
0.00145
|
NM_016169.4(SUFU):c.910+14C>T
|
rs202247757
|
0.00139
|
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)
|
rs200649500
|
0.00136
|
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)
|
rs104894190
|
0.00115
|
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly)
|
rs149685738
|
0.00084
|
NM_000314.8(PTEN):c.-666G>A
|
rs553371022
|
0.00069
|
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp)
|
rs376271562
|
0.00068
|
NM_016169.4(SUFU):c.*476A>G
|
rs575192580
|
0.00066
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)
|
rs372480044
|
0.00058
|
NM_003977.4(AIP):c.807C>T (p.Phe269=)
|
rs139407567
|
0.00055
|
NM_003977.4(AIP):c.382C>T (p.Arg128Cys)
|
rs140530307
|
0.00054
|
NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys)
|
rs148223897
|
0.00048
|
NM_003640.5(ELP1):c.1913C>T (p.Ala638Val)
|
rs144370288
|
0.00048
|
NM_004168.4(SDHA):c.456+6G>T
|
rs371735891
|
0.00047
|
NM_016169.4(SUFU):c.*2729T>C
|
rs574630127
|
0.00045
|
NM_001126049.2(KLLN):c.-792C>T
|
rs587779982
|
0.00044
|
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)
|
rs201053044
|
0.00043
|
NM_003640.5(ELP1):c.1309A>C (p.Asn437His)
|
rs148609833
|
0.00041
|
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu)
|
rs371522435
|
0.00038
|
NM_003977.4(AIP):c.26G>A (p.Arg9Gln)
|
rs139459091
|
0.00037
|
NM_004168.4(SDHA):c.622-8T>C
|
rs370714378
|
0.00037
|
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
|
rs111033536
|
0.00037
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
NM_016169.4(SUFU):c.*2956C>T
|
rs562546771
|
0.00033
|
NM_004168.4(SDHA):c.*179G>A
|
rs980815395
|
0.00031
|
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys)
|
rs370074117
|
0.00031
|
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)
|
rs143335584
|
0.00029
|
NM_001754.5(RUNX1):c.155T>A (p.Met52Lys)
|
rs200431130
|
0.00028
|
NM_016169.4(SUFU):c.*1936C>T
|
rs118033896
|
0.00027
|
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu)
|
rs374814563
|
0.00026
|
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp)
|
rs201877610
|
0.00026
|
NM_022124.6(CDH23):c.4621G>A (p.Val1541Met)
|
rs565657378
|
0.00026
|
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr)
|
rs200177873
|
0.00025
|
NM_022124.6(CDH23):c.1981G>A (p.Val661Met)
|
rs369157174
|
0.00024
|
NM_004716.4(PCSK7):c.1678C>G (p.Arg560Gly)
|
rs202038275
|
0.00023
|
NM_016169.4(SUFU):c.50C>T (p.Ala17Val)
|
rs12780580
|
0.00023
|
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)
|
rs140884994
|
0.00023
|
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys)
|
rs527488103
|
0.00022
|
NM_016169.4(SUFU):c.*1997A>G
|
rs757368847
|
0.00021
|
NM_016169.4(SUFU):c.6G>T (p.Ala2=)
|
rs746555296
|
0.00021
|
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)
|
rs550384315
|
0.00021
|
NM_016169.4(SUFU):c.1445C>T (p.Pro482Leu)
|
rs765358771
|
0.00020
|
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val)
|
rs374362883
|
0.00020
|
NM_022124.6(CDH23):c.5470C>T (p.Arg1824Cys)
|
rs755817193
|
0.00019
|
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His)
|
rs200188029
|
0.00019
|
NM_003002.4(SDHD):c.101T>G (p.Phe34Cys)
|
rs141802836
|
0.00016
|
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)
|
rs377509915
|
0.00016
|
NM_017841.4(SDHAF2):c.331G>A (p.Glu111Lys)
|
rs145616631
|
0.00016
|
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp)
|
rs373276722
|
0.00016
|
NM_003079.5(SMARCE1):c.955G>A (p.Val319Ile)
|
rs140414666
|
0.00015
|
NM_003640.5(ELP1):c.2087G>A (p.Arg696Gln)
|
rs137853022
|
0.00015
|
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr)
|
rs144513891
|
0.00015
|
NM_003640.5(ELP1):c.3417G>C (p.Leu1139Phe)
|
rs202080366
|
0.00014
|
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr)
|
rs200526913
|
0.00014
|
NM_016169.4(SUFU):c.*721T>G
|
rs2298279
|
0.00014
|
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met)
|
rs137880855
|
0.00014
|
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln)
|
rs145704867
|
0.00014
|
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val)
|
rs200635365
|
0.00014
|
NM_022124.6(CDH23):c.4864G>A (p.Val1622Met)
|
rs199754104
|
0.00014
|
NM_000314.6(PTEN):c.-859A>G
|
rs876661029
|
0.00013
|
NM_001126049.2(KLLN):c.-777C>T
|
rs961642255
|
0.00013
|
NM_003002.4(SDHD):c.255G>C (p.Leu85Phe)
|
rs199517389
|
0.00013
|
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly)
|
rs191412461
|
0.00013
|
NM_003000.3(SDHB):c.403G>A (p.Val135Met)
|
rs201585157
|
0.00012
|
NM_003000.3(SDHB):c.455C>T (p.Ser152Phe)
|
rs200414835
|
0.00012
|
NM_003072.5(SMARCA4):c.914C>T (p.Pro305Leu)
|
rs138097741
|
0.00012
|
NM_003640.5(ELP1):c.2498A>C (p.His833Pro)
|
rs201714373
|
0.00012
|
NM_003640.5(ELP1):c.2920G>A (p.Ala974Thr)
|
rs151120244
|
0.00012
|
NM_003977.4(AIP):c.733G>A (p.Glu245Lys)
|
rs150645662
|
0.00012
|
NM_004168.4(SDHA):c.205G>A (p.Ala69Thr)
|
rs370481102
|
0.00012
|
NM_004304.5(ALK):c.1283-5T>C
|
rs377214413
|
0.00012
|
NM_000314.8(PTEN):c.-835C>T
|
rs587779994
|
0.00011
|
NM_003002.4(SDHD):c.53C>T (p.Ala18Val)
|
rs192332761
|
0.00011
|
NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln)
|
rs139091484
|
0.00011
|
NM_003977.4(AIP):c.974G>A (p.Arg325Gln)
|
rs754619109
|
0.00011
|
NM_016169.4(SUFU):c.*1451C>T
|
rs886046659
|
0.00011
|
NM_016169.4(SUFU):c.1121A>G (p.Asn374Ser)
|
rs1265012285
|
0.00011
|
NM_016169.4(SUFU):c.1232C>T (p.Thr411Met)
|
rs368020224
|
0.00011
|
NM_022124.6(CDH23):c.1672G>A (p.Val558Met)
|
rs780661396
|
0.00011
|
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met)
|
rs199796910
|
0.00011
|
NM_022124.6(CDH23):c.5363C>T (p.Pro1788Leu)
|
rs564555435
|
0.00011
|
NM_022124.6(CDH23):c.6869C>T (p.Thr2290Met)
|
rs370912192
|
0.00011
|
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met)
|
rs376617494
|
0.00011
|
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys)
|
rs774568101
|
0.00010
|
NM_003079.5(SMARCE1):c.767A>G (p.Lys256Arg)
|
rs542193901
|
0.00010
|
NM_003640.5(ELP1):c.3593G>A (p.Arg1198Gln)
|
rs200322331
|
0.00010
|
NM_003640.5(ELP1):c.520G>A (p.Glu174Lys)
|
rs758924768
|
0.00010
|
NM_016169.4(SUFU):c.*2195G>T
|
rs781227748
|
0.00010
|
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met)
|
rs781597943
|
0.00010
|
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn)
|
rs191021194
|
0.00010
|
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)
|
rs142899125
|
0.00009
|
NM_000268.4(NF2):c.1540A>G (p.Met514Val)
|
rs201527155
|
0.00009
|
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)
|
rs371387815
|
0.00009
|
NM_003072.5(SMARCA4):c.1812+3G>A
|
rs371562008
|
0.00009
|
NM_003072.5(SMARCA4):c.263C>T (p.Pro88Leu)
|
rs371056395
|
0.00009
|
NM_003640.5(ELP1):c.3949C>A (p.Pro1317Thr)
|
rs199595486
|
0.00009
|
NM_003640.5(ELP1):c.484G>C (p.Gly162Arg)
|
rs565257577
|
0.00009
|
NM_003977.4(AIP):c.827C>T (p.Ala276Val)
|
rs61741147
|
0.00009
|
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)
|
rs199844384
|
0.00009
|
NM_004168.4(SDHA):c.1591G>A (p.Val531Met)
|
rs371056571
|
0.00009
|
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln)
|
rs376391115
|
0.00009
|
NM_004168.4(SDHA):c.1751C>T (p.Ala584Val)
|
rs201068049
|
0.00009
|
NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly)
|
rs368178771
|
0.00009
|
NM_017841.4(SDHAF2):c.476A>C (p.Glu159Ala)
|
rs140920079
|
0.00009
|
NM_020975.6(RET):c.2657G>A (p.Arg886Gln)
|
rs373594744
|
0.00009
|
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile)
|
rs370549448
|
0.00009
|
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)
|
rs188376296
|
0.00009
|
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)
|
rs200632520
|
0.00009
|
NM_003640.5(ELP1):c.3917C>T (p.Ser1306Leu)
|
rs780649768
|
0.00008
|
NM_003977.4(AIP):c.205A>G (p.Lys69Glu)
|
rs141223463
|
0.00008
|
NM_004168.4(SDHA):c.1532T>C (p.Leu511Pro)
|
rs375194444
|
0.00008
|
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe)
|
rs377470390
|
0.00008
|
NM_004168.4(SDHA):c.1597C>G (p.Gln533Glu)
|
rs149367009
|
0.00008
|
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr)
|
rs375576259
|
0.00008
|
NM_004304.5(ALK):c.1550A>G (p.His517Arg)
|
rs367674546
|
0.00008
|
NM_016169.4(SUFU):c.*907C>G
|
rs886046655
|
0.00008
|
NM_016169.4(SUFU):c.1028G>A (p.Arg343His)
|
rs79299301
|
0.00008
|
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys)
|
rs111033509
|
0.00008
|
NM_022124.6(CDH23):c.415G>A (p.Val139Ile)
|
rs771868822
|
0.00008
|
NM_022124.6(CDH23):c.9037G>A (p.Val3013Met)
|
rs369776863
|
0.00008
|
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter)
|
rs200910410
|
0.00008
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
rs80358912
|
0.00007
|
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala)
|
rs34599281
|
0.00007
|
NM_003001.5(SDHC):c.98C>T (p.Thr33Met)
|
rs148566767
|
0.00007
|
NM_003072.5(SMARCA4):c.797C>T (p.Ser266Leu)
|
rs371045201
|
0.00007
|
NM_003079.5(SMARCE1):c.938G>A (p.Arg313His)
|
rs201577008
|
0.00007
|
NM_003640.5(ELP1):c.2165G>A (p.Arg722Gln)
|
rs370575901
|
0.00007
|
NM_003640.5(ELP1):c.2578G>A (p.Glu860Lys)
|
rs137983175
|
0.00007
|
NM_003640.5(ELP1):c.3454G>A (p.Gly1152Ser)
|
rs771838754
|
0.00007
|
NM_003640.5(ELP1):c.3527G>A (p.Ser1176Asn)
|
rs749668335
|
0.00007
|
NM_003977.4(AIP):c.572G>A (p.Arg191His)
|
rs141826817
|
0.00007
|
NM_004168.4(SDHA):c.290G>C (p.Arg97Thr)
|
rs371274523
|
0.00007
|
NM_004168.4(SDHA):c.770+12A>G
|
rs201245536
|
0.00007
|
NM_004304.5(ALK):c.3115G>A (p.Val1039Met)
|
rs200080181
|
0.00007
|
NM_004304.5(ALK):c.3160G>A (p.Gly1054Ser)
|
rs375889530
|
0.00007
|
NM_016169.4(SUFU):c.625C>T (p.His209Tyr)
|
rs770678862
|
0.00007
|
NM_022124.6(CDH23):c.2953G>C (p.Val985Leu)
|
rs374964318
|
0.00007
|
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln)
|
rs373480195
|
0.00007
|
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys)
|
rs368848049
|
0.00007
|
NM_022124.6(CDH23):c.9381-123C>A
|
rs775172553
|
0.00007
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)
|
rs202119350
|
0.00006
|
NM_003000.3(SDHB):c.317A>G (p.Asn106Ser)
|
rs934514080
|
0.00006
|
NM_003072.5(SMARCA4):c.1019C>T (p.Ala340Val)
|
rs756474511
|
0.00006
|
NM_003072.5(SMARCA4):c.104C>T (p.Ser35Leu)
|
rs563079629
|
0.00006
|
NM_003072.5(SMARCA4):c.416C>T (p.Pro139Leu)
|
rs762023872
|
0.00006
|
NM_003072.5(SMARCA4):c.4884C>G (p.Asp1628Glu)
|
rs778856307
|
0.00006
|
NM_003072.5(SMARCA4):c.79A>G (p.Met27Val)
|
rs768328175
|
0.00006
|
NM_003079.5(SMARCE1):c.1067A>G (p.Asn356Ser)
|
rs151220618
|
0.00006
|
NM_003079.5(SMARCE1):c.1133C>T (p.Ala378Val)
|
rs771281023
|
0.00006
|
NM_003640.5(ELP1):c.1400C>A (p.Ala467Asp)
|
rs368040993
|
0.00006
|
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr)
|
rs61749203
|
0.00006
|
NM_003977.4(AIP):c.145G>A (p.Val49Met)
|
rs1063385
|
0.00006
|
NM_003977.4(AIP):c.967C>T (p.Arg323Trp)
|
rs188965257
|
0.00006
|
NM_004168.4(SDHA):c.-5C>T
|
rs572126995
|
0.00006
|
NM_004168.4(SDHA):c.1064+5G>A
|
rs200021115
|
0.00006
|
NM_004168.4(SDHA):c.1183G>T (p.Val395Phe)
|
rs748683825
|
0.00006
|
NM_004168.4(SDHA):c.287C>T (p.Thr96Ile)
|
rs377620054
|
0.00006
|
NM_004168.4(SDHA):c.453C>A (p.Val151=)
|
rs138917116
|
0.00006
|
NM_004168.4(SDHA):c.644A>G (p.Tyr215Cys)
|
rs781660628
|
0.00006
|
NM_004168.4(SDHA):c.994C>G (p.Pro332Ala)
|
rs373509391
|
0.00006
|
NM_004304.5(ALK):c.2633-3C>T
|
rs200341945
|
0.00006
|
NM_016169.4(SUFU):c.*520G>A
|
rs757315966
|
0.00006
|
NM_016169.4(SUFU):c.1105G>A (p.Val369Ile)
|
rs149449923
|
0.00006
|
NM_016169.4(SUFU):c.1273G>A (p.Ala425Thr)
|
rs748099523
|
0.00006
|
NM_016169.4(SUFU):c.38C>T (p.Thr13Ile)
|
rs768935165
|
0.00006
|
NM_016169.4(SUFU):c.925C>T (p.Arg309Trp)
|
rs148160011
|
0.00006
|
NM_017841.4(SDHAF2):c.490A>G (p.Lys164Glu)
|
rs150187184
|
0.00006
|
NM_020975.6(RET):c.604G>A (p.Val202Met)
|
rs751572082
|
0.00006
|
NM_022124.6(CDH23):c.1699G>A (p.Val567Met)
|
rs377148854
|
0.00006
|
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile)
|
rs143782870
|
0.00006
|
NM_022124.6(CDH23):c.4625G>A (p.Gly1542Asp)
|
rs781339262
|
0.00006
|
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)
|
rs201434373
|
0.00006
|
NM_022124.6(CDH23):c.7295G>A (p.Gly2432Asp)
|
rs201579860
|
0.00006
|
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn)
|
rs202147495
|
0.00006
|
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu)
|
rs761210350
|
0.00006
|
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys)
|
rs368743687
|
0.00006
|
NM_003000.3(SDHB):c.97G>A (p.Ala33Thr)
|
rs777898500
|
0.00005
|
NM_003001.5(SDHC):c.119G>A (p.Arg40Gln)
|
rs772450693
|
0.00005
|
NM_003072.5(SMARCA4):c.4823G>A (p.Arg1608Gln)
|
rs375672575
|
0.00005
|
NM_003079.5(SMARCE1):c.1095G>C (p.Glu365Asp)
|
rs773859296
|
0.00005
|
NM_003640.5(ELP1):c.3188T>C (p.Ile1063Thr)
|
rs754831171
|
0.00005
|
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr)
|
rs369100772
|
0.00005
|
NM_004168.4(SDHA):c.1934T>C (p.Ile645Thr)
|
rs1282623859
|
0.00005
|
NM_004168.4(SDHA):c.841A>G (p.Thr281Ala)
|
rs772325115
|
0.00005
|
NM_016169.4(SUFU):c.43C>A (p.Pro15Thr)
|
rs761921681
|
0.00005
|
NM_016169.4(SUFU):c.992G>A (p.Arg331Gln)
|
rs141359583
|
0.00005
|
NM_022124.6(CDH23):c.9955G>A (p.Glu3319Lys)
|
rs771858198
|
0.00005
|
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp)
|
rs147045425
|
0.00005
|
NM_000268.4(NF2):c.1252C>T (p.Arg418Cys)
|
rs765540111
|
0.00004
|
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser)
|
rs774824164
|
0.00004
|
NM_000314.8(PTEN):c.-121A>G
|
rs886047395
|
0.00004
|
NM_000546.6(TP53):c.460G>A (p.Gly154Ser)
|
rs137852789
|
0.00004
|
NM_001126049.2(KLLN):c.-1039G>A
|
rs587779999
|
0.00004
|
NM_001126049.2(KLLN):c.-806A>C
|
rs587782761
|
0.00004
|
NM_003000.3(SDHB):c.307A>G (p.Met103Val)
|
rs140178341
|
0.00004
|
NM_003000.3(SDHB):c.530G>A (p.Arg177His)
|
rs150437793
|
0.00004
|
NM_003000.3(SDHB):c.695C>T (p.Ala232Val)
|
rs746224555
|
0.00004
|
NM_003000.3(SDHB):c.709C>T (p.Pro237Ser)
|
rs186768244
|
0.00004
|
NM_003001.5(SDHC):c.118C>T (p.Arg40Trp)
|
rs978019587
|
0.00004
|
NM_003072.5(SMARCA4):c.1018G>A (p.Ala340Thr)
|
rs371214327
|
0.00004
|
NM_003072.5(SMARCA4):c.1847C>T (p.Pro616Leu)
|
rs755935365
|
0.00004
|
NM_003072.5(SMARCA4):c.2176C>T (p.Arg726Cys)
|
rs778049192
|
0.00004
|
NM_003072.5(SMARCA4):c.235A>G (p.Met79Val)
|
rs767638396
|
0.00004
|
NM_003072.5(SMARCA4):c.247G>A (p.Gly83Ser)
|
rs766474711
|
0.00004
|
NM_003072.5(SMARCA4):c.277A>G (p.Met93Val)
|
rs777647740
|
0.00004
|
NM_003072.5(SMARCA4):c.3358G>A (p.Gly1120Ser)
|
rs373590049
|
0.00004
|
NM_003072.5(SMARCA4):c.3830C>T (p.Pro1277Leu)
|
rs746219091
|
0.00004
|
NM_003072.5(SMARCA4):c.4119C>G (p.His1373Gln)
|
rs751704331
|
0.00004
|
NM_003072.5(SMARCA4):c.4585G>A (p.Val1529Ile)
|
rs777829717
|
0.00004
|
NM_003072.5(SMARCA4):c.4801C>T (p.Arg1601Trp)
|
rs766797299
|
0.00004
|
NM_003072.5(SMARCA4):c.4847C>T (p.Pro1616Leu)
|
rs878854234
|
0.00004
|
NM_003072.5(SMARCA4):c.656C>T (p.Thr219Met)
|
rs371832808
|
0.00004
|
NM_003072.5(SMARCA4):c.932C>G (p.Pro311Arg)
|
rs759754994
|
0.00004
|
NM_003079.5(SMARCE1):c.1006G>A (p.Glu336Lys)
|
rs377136485
|
0.00004
|
NM_003079.5(SMARCE1):c.1226A>G (p.Lys409Arg)
|
rs770346178
|
0.00004
|
NM_003079.5(SMARCE1):c.412G>A (p.Ala138Thr)
|
rs771308672
|
0.00004
|
NM_003079.5(SMARCE1):c.57G>T (p.Met19Ile)
|
rs142279746
|
0.00004
|
NM_003079.5(SMARCE1):c.823G>A (p.Gly275Ser)
|
rs745448272
|
0.00004
|
NM_003079.5(SMARCE1):c.922G>A (p.Ala308Thr)
|
rs372988818
|
0.00004
|
NM_003640.5(ELP1):c.1805G>A (p.Arg602Gln)
|
rs369627815
|
0.00004
|
NM_003640.5(ELP1):c.1925C>T (p.Thr642Met)
|
rs377020122
|
0.00004
|
NM_003640.5(ELP1):c.2284G>A (p.Val762Met)
|
rs146338880
|
0.00004
|
NM_003640.5(ELP1):c.2845C>T (p.His949Tyr)
|
rs201440191
|
0.00004
|
NM_003640.5(ELP1):c.2861-12T>G
|
rs746590157
|
0.00004
|
NM_003640.5(ELP1):c.3032G>A (p.Arg1011His)
|
rs368999377
|
0.00004
|
NM_003640.5(ELP1):c.3137T>C (p.Val1046Ala)
|
rs1286140759
|
0.00004
|
NM_003640.5(ELP1):c.3151A>G (p.Thr1051Ala)
|
rs148548795
|
0.00004
|
NM_003640.5(ELP1):c.410C>A (p.Thr137Lys)
|
rs201460139
|
0.00004
|
NM_003977.4(AIP):c.355C>T (p.Arg119Trp)
|
rs368933035
|
0.00004
|
NM_003977.4(AIP):c.692C>T (p.Thr231Met)
|
rs532170807
|
0.00004
|
NM_003977.4(AIP):c.70G>C (p.Glu24Gln)
|
rs267606568
|
0.00004
|
NM_004168.4(SDHA):c.1001C>T (p.Ala334Val)
|
rs765180271
|
0.00004
|
NM_004168.4(SDHA):c.1115C>G (p.Pro372Arg)
|
rs141493530
|
0.00004
|
NM_004168.4(SDHA):c.1526C>G (p.Ser509Trp)
|
rs397514541
|
0.00004
|
NM_004168.4(SDHA):c.1585G>C (p.Gly529Arg)
|
rs370291114
|
0.00004
|
NM_004168.4(SDHA):c.1694C>A (p.Thr565Asn)
|
rs757176672
|
0.00004
|
NM_004168.4(SDHA):c.1724C>T (p.Ala575Val)
|
rs750327309
|
0.00004
|
NM_004168.4(SDHA):c.1771G>A (p.Ala591Thr)
|
rs1042170
|
0.00004
|
NM_004168.4(SDHA):c.1930G>A (p.Val644Met)
|
rs3211483
|
0.00004
|
NM_004168.4(SDHA):c.1951G>A (p.Glu651Lys)
|
rs375396913
|
0.00004
|
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu)
|
rs377632619
|
0.00004
|
NM_004168.4(SDHA):c.448G>A (p.Val150Met)
|
rs542980860
|
0.00004
|
NM_004168.4(SDHA):c.5C>T (p.Ser2Leu)
|
rs780064103
|
0.00004
|
NM_004168.4(SDHA):c.641G>A (p.Ser214Asn)
|
rs755432673
|
0.00004
|
NM_004168.4(SDHA):c.739A>G (p.Ile247Val)
|
rs571292356
|
0.00004
|
NM_004168.4(SDHA):c.970G>A (p.Glu324Lys)
|
rs147014102
|
0.00004
|
NM_004656.4(BAP1):c.1147C>T (p.Arg383Cys)
|
rs201844078
|
0.00004
|
NM_016169.4(SUFU):c.*2267G>T
|
rs886046660
|
0.00004
|
NM_016169.4(SUFU):c.1147C>G (p.Leu383Val)
|
rs991500079
|
0.00004
|
NM_016169.4(SUFU):c.866G>A (p.Arg289Gln)
|
rs149016373
|
0.00004
|
NM_016169.4(SUFU):c.991C>T (p.Arg331Trp)
|
rs768170991
|
0.00004
|
NM_017841.4(SDHAF2):c.139A>G (p.Met47Val)
|
rs111402137
|
0.00004
|
NM_017841.4(SDHAF2):c.205C>T (p.Arg69Cys)
|
rs532255760
|
0.00004
|
NM_017841.4(SDHAF2):c.320G>A (p.Arg107His)
|
rs535627239
|
0.00004
|
NM_017841.4(SDHAF2):c.52A>G (p.Arg18Gly)
|
rs200911550
|
0.00004
|
NM_022124.6(CDH23):c.2251G>A (p.Gly751Arg)
|
rs41281306
|
0.00004
|
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln)
|
rs397517317
|
0.00004
|
NM_022124.6(CDH23):c.2804G>A (p.Arg935His)
|
rs748194042
|
0.00004
|
NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr)
|
rs548937425
|
0.00004
|
NM_022124.6(CDH23):c.6808C>T (p.Arg2270Cys)
|
rs755800639
|
0.00004
|
NM_022124.6(CDH23):c.7942G>A (p.Val2648Met)
|
rs749501038
|
0.00004
|
NM_022124.6(CDH23):c.9557G>A (p.Arg3186Gln)
|
rs763303827
|
0.00004
|
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln)
|
rs727502936
|
0.00004
|
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys)
|
rs778711089
|
0.00004
|
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)
|
rs374545987
|
0.00004
|
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)
|
rs397507330
|
0.00003
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)
|
rs397514840
|
0.00003
|
NM_001126049.2(KLLN):c.-845C>T
|
rs587782068
|
0.00003
|
NM_001387283.1(SMARCA4):c.4190T>G (p.Ile1397Ser)
|
rs534766933
|
0.00003
|
NM_002070.4(GNAI2):c.879G>A (p.Gly293=)
|
rs143863348
|
0.00003
|
NM_003000.3(SDHB):c.304G>A (p.Ala102Thr)
|
rs777578399
|
0.00003
|
NM_003000.3(SDHB):c.344G>A (p.Arg115Gln)
|
rs200973284
|
0.00003
|
NM_003000.3(SDHB):c.544G>A (p.Gly182Arg)
|
rs201928318
|
0.00003
|
NM_003001.5(SDHC):c.166A>C (p.Ile56Leu)
|
rs1363555121
|
0.00003
|
NM_003001.5(SDHC):c.461T>C (p.Val154Ala)
|
rs1378160712
|
0.00003
|
NM_003072.5(SMARCA4):c.1006C>A (p.Pro336Thr)
|
rs111491424
|
0.00003
|
NM_003072.5(SMARCA4):c.1090G>A (p.Val364Met)
|
rs1020163987
|
0.00003
|
NM_003072.5(SMARCA4):c.1286C>T (p.Ala429Val)
|
rs569715577
|
0.00003
|
NM_003072.5(SMARCA4):c.1420-3C>T
|
rs777295398
|
0.00003
|
NM_003072.5(SMARCA4):c.1748A>G (p.Lys583Arg)
|
rs1043517699
|
0.00003
|
NM_003072.5(SMARCA4):c.2020C>A (p.Pro674Thr)
|
rs780569107
|
0.00003
|
NM_003072.5(SMARCA4):c.3436G>A (p.Gly1146Ser)
|
rs200007170
|
0.00003
|
NM_003072.5(SMARCA4):c.3814G>A (p.Ala1272Thr)
|
rs776672640
|
0.00003
|
NM_003072.5(SMARCA4):c.3850G>A (p.Asp1284Asn)
|
rs765989895
|
0.00003
|
NM_003072.5(SMARCA4):c.38G>A (p.Arg13Gln)
|
rs143950084
|
0.00003
|
NM_003072.5(SMARCA4):c.3952-13C>A
|
rs374611879
|
0.00003
|
NM_003072.5(SMARCA4):c.4211T>C (p.Val1404Ala)
|
rs1240862092
|
0.00003
|
NM_003072.5(SMARCA4):c.4249A>G (p.Ser1417Gly)
|
rs373390083
|
0.00003
|
NM_003072.5(SMARCA4):c.4255G>A (p.Ala1419Thr)
|
rs374722116
|
0.00003
|
NM_003072.5(SMARCA4):c.4271C>T (p.Pro1424Leu)
|
rs760654888
|
0.00003
|
NM_003072.5(SMARCA4):c.4294G>A (p.Asp1432Asn)
|
rs755295556
|
0.00003
|
NM_003072.5(SMARCA4):c.4673C>T (p.Thr1558Ile)
|
rs765873407
|
0.00003
|
NM_003072.5(SMARCA4):c.4682G>A (p.Arg1561Gln)
|
rs201258822
|
0.00003
|
NM_003072.5(SMARCA4):c.4826T>C (p.Leu1609Pro)
|
rs755493468
|
0.00003
|
NM_003072.5(SMARCA4):c.671C>T (p.Ser224Leu)
|
rs1368858108
|
0.00003
|
NM_003072.5(SMARCA4):c.778A>C (p.Met260Leu)
|
rs1064795842
|
0.00003
|
NM_003079.5(SMARCE1):c.1002C>G (p.Asp334Glu)
|
rs750483952
|
0.00003
|
NM_003079.5(SMARCE1):c.1019T>C (p.Met340Thr)
|
rs746602244
|
0.00003
|
NM_003079.5(SMARCE1):c.369G>A (p.Lys123=)
|
rs746320191
|
0.00003
|
NM_003079.5(SMARCE1):c.872A>G (p.Gln291Arg)
|
rs1307270981
|
0.00003
|
NM_003640.5(ELP1):c.1127C>T (p.Thr376Met)
|
rs376671881
|
0.00003
|
NM_003640.5(ELP1):c.1135C>T (p.Arg379Trp)
|
rs766255360
|
0.00003
|
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile)
|
rs749608070
|
0.00003
|
NM_003640.5(ELP1):c.1814A>G (p.Tyr605Cys)
|
rs756919296
|
0.00003
|
NM_003640.5(ELP1):c.2009T>G (p.Phe670Cys)
|
rs139479557
|
0.00003
|
NM_003640.5(ELP1):c.2386A>G (p.Met796Val)
|
rs748482757
|
0.00003
|
NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys)
|
rs776891269
|
0.00003
|
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser)
|
rs145484092
|
0.00003
|
NM_003640.5(ELP1):c.3014C>T (p.Ala1005Val)
|
rs55658431
|
0.00003
|
NM_003640.5(ELP1):c.3281G>A (p.Arg1094Lys)
|
rs200941360
|
0.00003
|
NM_003640.5(ELP1):c.360C>G (p.Asp120Glu)
|
rs775972369
|
0.00003
|
NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg)
|
rs766517046
|
0.00003
|
NM_003640.5(ELP1):c.3889A>G (p.Met1297Val)
|
rs769146127
|
0.00003
|
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln)
|
rs375666523
|
0.00003
|
NM_003640.5(ELP1):c.817C>A (p.Leu273Ile)
|
rs1370759222
|
0.00003
|
NM_003640.5(ELP1):c.859G>A (p.Val287Ile)
|
rs755938001
|
0.00003
|
NM_003738.5(PTCH2):c.565C>G (p.Leu189Val)
|
rs747885797
|
0.00003
|
NM_003977.4(AIP):c.406G>T (p.Ala136Ser)
|
rs775549178
|
0.00003
|
NM_003977.4(AIP):c.563G>A (p.Arg188Gln)
|
rs866556486
|
0.00003
|
NM_004168.4(SDHA):c.1324G>A (p.Ala442Thr)
|
rs754893758
|
0.00003
|
NM_004168.4(SDHA):c.149C>T (p.Ser50Phe)
|
rs369321221
|
0.00003
|
NM_004168.4(SDHA):c.1542C>G (p.Ser514Arg)
|
rs1301221379
|
0.00003
|
NM_004168.4(SDHA):c.154T>A (p.Ser52Thr)
|
rs150326789
|
0.00003
|
NM_004168.4(SDHA):c.1573G>A (p.Val525Met)
|
rs979815942
|
0.00003
|
NM_004168.4(SDHA):c.1666A>G (p.Met556Val)
|
rs980397872
|
0.00003
|
NM_004168.4(SDHA):c.1895T>C (p.Val632Ala)
|
rs774609159
|
0.00003
|
NM_004168.4(SDHA):c.191C>T (p.Ala64Val)
|
rs760510019
|
0.00003
|
NM_004168.4(SDHA):c.1935C>G (p.Ile645Met)
|
rs762128553
|
0.00003
|
NM_004168.4(SDHA):c.1936G>A (p.Asp646Asn)
|
rs376986935
|
0.00003
|
NM_004168.4(SDHA):c.1942A>C (p.Thr648Pro)
|
rs758054627
|
0.00003
|
NM_004168.4(SDHA):c.391G>A (p.Asp131Asn)
|
rs1324014370
|
0.00003
|
NM_004168.4(SDHA):c.424A>G (p.Met142Val)
|
rs776848209
|
0.00003
|
NM_004168.4(SDHA):c.512G>A (p.Arg171His)
|
rs587782076
|
0.00003
|
NM_004168.4(SDHA):c.607A>G (p.Thr203Ala)
|
rs373340696
|
0.00003
|
NM_004168.4(SDHA):c.613T>C (p.Tyr205His)
|
rs61754481
|
0.00003
|
NM_004168.4(SDHA):c.706G>A (p.Ala236Thr)
|
rs774160524
|
0.00003
|
NM_004168.4(SDHA):c.800C>T (p.Thr267Met)
|
rs777167108
|
0.00003
|
NM_004304.5(ALK):c.2194G>A (p.Asp732Asn)
|
rs768366852
|
0.00003
|
NM_016169.4(SUFU):c.*2643C>G
|
rs886046663
|
0.00003
|
NM_016169.4(SUFU):c.*376G>A
|
rs866120174
|
0.00003
|
NM_016169.4(SUFU):c.*915G>C
|
rs886046656
|
0.00003
|
NM_016169.4(SUFU):c.1006G>A (p.Ala336Thr)
|
rs746448939
|
0.00003
|
NM_016169.4(SUFU):c.109A>G (p.Ile37Val)
|
rs745793517
|
0.00003
|
NM_016169.4(SUFU):c.506A>G (p.Asn169Ser)
|
rs142672533
|
0.00003
|
NM_016169.4(SUFU):c.896G>A (p.Arg299Gln)
|
rs374946819
|
0.00003
|
NM_017841.4(SDHAF2):c.391A>T (p.Ile131Leu)
|
rs773580529
|
0.00003
|
NM_022124.6(CDH23):c.227G>A (p.Arg76His)
|
rs373802615
|
0.00003
|
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp)
|
rs368496658
|
0.00003
|
NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val)
|
rs748462315
|
0.00003
|
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys)
|
rs202204597
|
0.00003
|
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp)
|
rs756231829
|
0.00003
|
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His)
|
rs141986620
|
0.00003
|
NM_022124.6(CDH23):c.7634C>T (p.Thr2545Ile)
|
rs763947401
|
0.00003
|
NM_022124.6(CDH23):c.7822C>T (p.Arg2608Cys)
|
rs370922401
|
0.00003
|
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln)
|
rs111033467
|
0.00003
|
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp)
|
rs375907609
|
0.00003
|
NM_022124.6(CDH23):c.9175C>A (p.Pro3059Thr)
|
rs780514498
|
0.00003
|
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)
|
rs121908353
|
0.00003
|
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)
|
rs80358626
|
0.00002
|
NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe)
|
rs750671399
|
0.00002
|
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr)
|
rs587781760
|
0.00002
|
NM_000059.4(BRCA2):c.7360A>T (p.Ile2454Phe)
|
rs876660249
|
0.00002
|
NM_000059.4(BRCA2):c.8331+3A>C
|
rs876659382
|
0.00002
|
NM_000268.4(NF2):c.1012C>T (p.Arg338Cys)
|
rs761795291
|
0.00002
|
NM_000268.4(NF2):c.515G>A (p.Arg172Lys)
|
rs752963731
|
0.00002
|
NM_000268.4(NF2):c.683A>G (p.Lys228Arg)
|
rs145384260
|
0.00002
|
NM_000314.8(PTEN):c.-765G>A
|
rs587776674
|
0.00002
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser)
|
rs745407845
|
0.00002
|
NM_001387283.1(SMARCA4):c.4256G>A (p.Arg1419His)
|
rs775807962
|
0.00002
|
NM_002430.3(MN1):c.3274G>A (p.Gly1092Arg)
|
rs771925230
|
0.00002
|
NM_003000.3(SDHB):c.130A>G (p.Ile44Val)
|
rs200418115
|
0.00002
|
NM_003000.3(SDHB):c.352G>A (p.Asp118Asn)
|
rs200021702
|
0.00002
|
NM_003000.3(SDHB):c.400T>C (p.Tyr134His)
|
rs771004483
|
0.00002
|
NM_003000.3(SDHB):c.41C>T (p.Pro14Leu)
|
rs764089231
|
0.00002
|
NM_003000.3(SDHB):c.529C>T (p.Arg177Cys)
|
rs149091125
|
0.00002
|
NM_003000.3(SDHB):c.736A>G (p.Ile246Val)
|
rs146800605
|
0.00002
|
NM_003000.3(SDHB):c.739A>G (p.Met247Val)
|
rs200896502
|
0.00002
|
NM_003000.3(SDHB):c.820A>G (p.Lys274Glu)
|
rs1273897502
|
0.00002
|
NM_003001.5(SDHC):c.*20T>G
|
rs587778662
|
0.00002
|
NM_003001.5(SDHC):c.197C>T (p.Ala66Val)
|
rs760572684
|
0.00002
|
NM_003001.5(SDHC):c.292T>G (p.Ser98Ala)
|
rs371462564
|
0.00002
|
NM_003001.5(SDHC):c.31C>T (p.Arg11Cys)
|
rs759914119
|
0.00002
|
NM_003072.5(SMARCA4):c.1024A>G (p.Met342Val)
|
rs878854196
|
0.00002
|
NM_003072.5(SMARCA4):c.1119-3C>T
|
rs747149353
|
0.00002
|
NM_003072.5(SMARCA4):c.1706G>A (p.Arg569Gln)
|
rs1050237
|
0.00002
|
NM_003072.5(SMARCA4):c.1742A>G (p.Lys581Arg)
|
rs765139835
|
0.00002
|
NM_003072.5(SMARCA4):c.1755A>T (p.Lys585Asn)
|
rs772752194
|
0.00002
|
NM_003072.5(SMARCA4):c.2044C>G (p.Leu682Val)
|
rs773252889
|
0.00002
|
NM_003072.5(SMARCA4):c.2050G>A (p.Val684Met)
|
rs766237791
|
0.00002
|
NM_003072.5(SMARCA4):c.3215+3G>A
|
rs751050884
|
0.00002
|
NM_003072.5(SMARCA4):c.3799G>A (p.Gly1267Ser)
|
rs764152134
|
0.00002
|
NM_003072.5(SMARCA4):c.4310G>A (p.Ser1437Asn)
|
rs1402031100
|
0.00002
|
NM_003072.5(SMARCA4):c.4370A>G (p.Asn1457Ser)
|
rs1434396338
|
0.00002
|
NM_003072.5(SMARCA4):c.4405G>A (p.Val1469Met)
|
rs370484739
|
0.00002
|
NM_003072.5(SMARCA4):c.4424+6C>T
|
rs778283753
|
0.00002
|
NM_003072.5(SMARCA4):c.4513G>A (p.Val1505Met)
|
rs372893370
|
0.00002
|
NM_003072.5(SMARCA4):c.4724G>A (p.Ser1575Asn)
|
rs878854229
|
0.00002
|
NM_003072.5(SMARCA4):c.4754G>T (p.Gly1585Val)
|
rs148115492
|
0.00002
|
NM_003072.5(SMARCA4):c.4763C>T (p.Ser1588Phe)
|
rs373858447
|
0.00002
|
NM_003072.5(SMARCA4):c.508A>T (p.Thr170Ser)
|
rs773273784
|
0.00002
|
NM_003072.5(SMARCA4):c.626C>T (p.Pro209Leu)
|
rs778071122
|
0.00002
|
NM_003072.5(SMARCA4):c.661C>A (p.Pro221Thr)
|
rs1417452362
|
0.00002
|
NM_003072.5(SMARCA4):c.679G>T (p.Ala227Ser)
|
rs769096295
|
0.00002
|
NM_003072.5(SMARCA4):c.790G>C (p.Gly264Arg)
|
rs746036083
|
0.00002
|
NM_003072.5(SMARCA4):c.802G>A (p.Val268Met)
|
rs768522438
|
0.00002
|
NM_003072.5(SMARCA4):c.859+5G>A
|
rs367781236
|
0.00002
|
NM_003072.5(SMARCA4):c.887C>T (p.Thr296Met)
|
rs781066262
|
0.00002
|
NM_003072.5(SMARCA4):c.929G>A (p.Arg310His)
|
rs766422429
|
0.00002
|
NM_003072.5(SMARCA4):c.940G>A (p.Ala314Thr)
|
rs764188556
|
0.00002
|
NM_003072.5(SMARCA4):c.986A>G (p.Gln329Arg)
|
rs775843321
|
0.00002
|
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr)
|
rs762962010
|
0.00002
|
NM_003079.5(SMARCE1):c.1010A>G (p.Asn337Ser)
|
rs765235194
|
0.00002
|
NM_003079.5(SMARCE1):c.443G>A (p.Arg148His)
|
rs755039445
|
0.00002
|
NM_003079.5(SMARCE1):c.490A>G (p.Met164Val)
|
rs752296357
|
0.00002
|
NM_003079.5(SMARCE1):c.506C>T (p.Pro169Leu)
|
rs775997908
|
0.00002
|
NM_003079.5(SMARCE1):c.643G>A (p.Val215Ile)
|
rs376327613
|
0.00002
|
NM_003079.5(SMARCE1):c.860C>G (p.Ala287Gly)
|
rs201158885
|
0.00002
|
NM_003079.5(SMARCE1):c.961G>A (p.Glu321Lys)
|
rs925142025
|
0.00002
|
NM_003079.5(SMARCE1):c.988G>A (p.Glu330Lys)
|
rs755389218
|
0.00002
|
NM_003640.5(ELP1):c.1018A>G (p.Thr340Ala)
|
rs770333327
|
0.00002
|
NM_003640.5(ELP1):c.1141G>A (p.Val381Met)
|
rs769108524
|
0.00002
|
NM_003640.5(ELP1):c.1166C>T (p.Ser389Phe)
|
rs745948468
|
0.00002
|
NM_003640.5(ELP1):c.1672A>G (p.Ile558Val)
|
rs772705478
|
0.00002
|
NM_003640.5(ELP1):c.1804C>T (p.Arg602Trp)
|
rs200397694
|
0.00002
|
NM_003640.5(ELP1):c.2258A>G (p.Asn753Ser)
|
rs201601641
|
0.00002
|
NM_003640.5(ELP1):c.2390A>G (p.Tyr797Cys)
|
rs1181862976
|
0.00002
|
NM_003640.5(ELP1):c.23G>A (p.Arg8Gln)
|
rs370041985
|
0.00002
|
NM_003640.5(ELP1):c.2417A>G (p.Tyr806Cys)
|
rs191464698
|
0.00002
|
NM_003640.5(ELP1):c.2797C>T (p.Arg933Trp)
|
rs763312635
|
0.00002
|
NM_003640.5(ELP1):c.3026T>C (p.Phe1009Ser)
|
rs750563722
|
0.00002
|
NM_003640.5(ELP1):c.3170T>C (p.Val1057Ala)
|
rs147069577
|
0.00002
|
NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg)
|
rs367582146
|
0.00002
|
NM_003640.5(ELP1):c.3604C>T (p.Arg1202Trp)
|
rs201168521
|
0.00002
|
NM_003640.5(ELP1):c.3827T>C (p.Leu1276Pro)
|
rs558588647
|
0.00002
|
NM_003640.5(ELP1):c.382A>G (p.Thr128Ala)
|
rs774585995
|
0.00002
|
NM_003640.5(ELP1):c.866T>C (p.Val289Ala)
|
rs890474380
|
0.00002
|
NM_003738.5(PTCH2):c.19C>G (p.Leu7Val)
|
rs1030456781
|
0.00002
|
NM_003738.5(PTCH2):c.247G>A (p.Glu83Lys)
|
rs781204167
|
0.00002
|
NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu)
|
rs539161089
|
0.00002
|
NM_003977.4(AIP):c.415G>T (p.Asp139Tyr)
|
rs138312605
|
0.00002
|
NM_003977.4(AIP):c.727G>T (p.Val243Leu)
|
rs1385147597
|
0.00002
|
NM_003977.4(AIP):c.784G>A (p.Asp262Asn)
|
rs758918509
|
0.00002
|
NM_003977.4(AIP):c.908G>A (p.Ser303Asn)
|
rs1006697477
|
0.00002
|
NM_004168.4(SDHA):c.109G>A (p.Val37Ile)
|
rs758426529
|
0.00002
|
NM_004168.4(SDHA):c.1135C>T (p.Arg379Cys)
|
rs749309213
|
0.00002
|
NM_004168.4(SDHA):c.1136G>A (p.Arg379His)
|
rs770719847
|
0.00002
|
NM_004168.4(SDHA):c.1171G>A (p.Ala391Thr)
|
rs376597185
|
0.00002
|
NM_004168.4(SDHA):c.1246A>G (p.Asn416Asp)
|
rs1355851620
|
0.00002
|
NM_004168.4(SDHA):c.1357G>A (p.Gly453Arg)
|
rs770028533
|
0.00002
|
NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg)
|
rs781747137
|
0.00002
|
NM_004168.4(SDHA):c.1493A>G (p.Lys498Arg)
|
rs745592653
|
0.00002
|
NM_004168.4(SDHA):c.150+5G>T
|
rs770610694
|
0.00002
|
NM_004168.4(SDHA):c.1518A>G (p.Ile506Met)
|
rs955444699
|
0.00002
|
NM_004168.4(SDHA):c.1580G>A (p.Arg527His)
|
rs766352407
|
0.00002
|
NM_004168.4(SDHA):c.1603G>T (p.Gly535Cys)
|
rs777622021
|
0.00002
|
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met)
|
rs181238392
|
0.00002
|
NM_004168.4(SDHA):c.1657G>A (p.Asp553Asn)
|
rs769882609
|
0.00002
|
NM_004168.4(SDHA):c.1679C>T (p.Thr560Met)
|
rs775350508
|
0.00002
|
NM_004168.4(SDHA):c.16G>A (p.Gly6Ser)
|
rs1352756438
|
0.00002
|
NM_004168.4(SDHA):c.1727T>C (p.Leu576Pro)
|
rs1318046349
|
0.00002
|
NM_004168.4(SDHA):c.1750G>A (p.Ala584Thr)
|
rs878854629
|
0.00002
|
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln)
|
rs1126568
|
0.00002
|
NM_004168.4(SDHA):c.445G>A (p.Ala149Thr)
|
rs575617625
|
0.00002
|
NM_004168.4(SDHA):c.464A>G (p.Asn155Ser)
|
rs749824479
|
0.00002
|
NM_004168.4(SDHA):c.476C>T (p.Pro159Leu)
|
rs759827541
|
0.00002
|
NM_004168.4(SDHA):c.809A>T (p.His270Leu)
|
rs1381228775
|
0.00002
|
NM_004168.4(SDHA):c.826G>A (p.Gly276Ser)
|
rs751008647
|
0.00002
|
NM_004304.5(ALK):c.1582G>A (p.Ala528Thr)
|
rs758494304
|
0.00002
|
NM_016169.4(SUFU):c.*1908C>G
|
rs764234968
|
0.00002
|
NM_016169.4(SUFU):c.*3025T>C
|
rs896765914
|
0.00002
|
NM_016169.4(SUFU):c.*844G>A
|
rs1032441274
|
0.00002
|
NM_016169.4(SUFU):c.1010A>G (p.His337Arg)
|
rs377274250
|
0.00002
|
NM_016169.4(SUFU):c.1190A>G (p.Tyr397Cys)
|
rs766508656
|
0.00002
|
NM_016169.4(SUFU):c.1280A>G (p.His427Arg)
|
rs771305734
|
0.00002
|
NM_016169.4(SUFU):c.1325A>G (p.Lys442Arg)
|
rs772598739
|
0.00002
|
NM_016169.4(SUFU):c.169A>G (p.Ile57Val)
|
rs377614167
|
0.00002
|
NM_016169.4(SUFU):c.225G>T (p.Arg75Ser)
|
rs141532626
|
0.00002
|
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr)
|
rs746322193
|
0.00002
|
NM_016169.4(SUFU):c.671G>A (p.Arg224Gln)
|
rs199673680
|
0.00002
|
NM_016169.4(SUFU):c.67C>T (p.Pro23Ser)
|
rs766666529
|
0.00002
|
NM_016169.4(SUFU):c.682A>G (p.Ile228Val)
|
rs555976050
|
0.00002
|
NM_016169.4(SUFU):c.703A>G (p.Ile235Val)
|
rs144666812
|
0.00002
|
NM_016169.4(SUFU):c.892C>T (p.Arg298Trp)
|
rs771255988
|
0.00002
|
NM_016169.4(SUFU):c.926G>A (p.Arg309Gln)
|
rs770246373
|
0.00002
|
NM_016169.4(SUFU):c.928G>A (p.Glu310Lys)
|
rs376797758
|
0.00002
|
NM_016169.4(SUFU):c.949G>A (p.Glu317Lys)
|
rs988284678
|
0.00002
|
NM_017841.4(SDHAF2):c.206G>A (p.Arg69His)
|
rs753474292
|
0.00002
|
NM_017841.4(SDHAF2):c.221G>A (p.Ser74Asn)
|
rs1060503389
|
0.00002
|
NM_017841.4(SDHAF2):c.313T>A (p.Tyr105Asn)
|
rs1485358364
|
0.00002
|
NM_022124.6(CDH23):c.2729A>G (p.Tyr910Cys)
|
rs557257494
|
0.00002
|
NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln)
|
rs1295355040
|
0.00002
|
NM_022124.6(CDH23):c.446C>T (p.Thr149Met)
|
rs370947344
|
0.00002
|
NM_022124.6(CDH23):c.5117G>A (p.Arg1706His)
|
rs376614796
|
0.00002
|
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val)
|
rs756459547
|
0.00002
|
NM_022124.6(CDH23):c.6080T>C (p.Ile2027Thr)
|
rs185819621
|
0.00002
|
NM_022124.6(CDH23):c.7177G>A (p.Val2393Met)
|
rs775436759
|
0.00002
|
NM_022124.6(CDH23):c.752C>T (p.Pro251Leu)
|
rs746961144
|
0.00002
|
NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys)
|
rs763119683
|
0.00002
|
NM_080425.4(GNAS):c.1275C>T (p.Phe425=)
|
rs867492591
|
0.00002
|
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)
|
rs80358488
|
0.00001
|
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)
|
rs431825296
|
0.00001
|
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn)
|
rs397507295
|
0.00001
|
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly)
|
rs80358679
|
0.00001
|
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His)
|
rs80358685
|
0.00001
|
NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr)
|
rs377639990
|
0.00001
|
NM_000059.4(BRCA2):c.505A>C (p.Lys169Gln)
|
rs41293467
|
0.00001
|
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)
|
rs587782060
|
0.00001
|
NM_000059.4(BRCA2):c.5434G>A (p.Glu1812Lys)
|
rs80358767
|
0.00001
|
NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val)
|
rs397507360
|
0.00001
|
NM_000059.4(BRCA2):c.5962G>A (p.Val1988Ile)
|
rs28897739
|
0.00001
|
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)
|
rs431825344
|
0.00001
|
NM_000059.4(BRCA2):c.6695A>T (p.Lys2232Ile)
|
rs786203098
|
0.00001
|
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)
|
rs41293503
|
0.00001
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
rs80358934
|
0.00001
|
NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly)
|
rs80358966
|
0.00001
|
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)
|
rs431825354
|
0.00001
|
NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly)
|
rs876658365
|
0.00001
|
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe)
|
rs200598289
|
0.00001
|
NM_000142.5(FGFR3):c.328C>T (p.Arg110Trp)
|
rs978856665
|
0.00001
|
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu)
|
rs757430199
|
0.00001
|
NM_000268.4(NF2):c.1174G>A (p.Glu392Lys)
|
rs1026724985
|
0.00001
|
NM_000268.4(NF2):c.1232G>A (p.Arg411His)
|
rs201214090
|
0.00001
|
NM_000268.4(NF2):c.1396C>G (p.Arg466Gly)
|
rs74315504
|
0.00001
|
NM_000268.4(NF2):c.1400G>A (p.Arg467Lys)
|
rs1294032875
|
0.00001
|
NM_000268.4(NF2):c.1446G>A (p.Pro482=)
|
rs753751373
|
0.00001
|
NM_000268.4(NF2):c.1675G>T (p.Asp559Tyr)
|
rs917012886
|
0.00001
|
NM_000268.4(NF2):c.1701C>G (p.Asp567Glu)
|
rs1049732514
|
0.00001
|
NM_000268.4(NF2):c.302A>G (p.Tyr101Cys)
|
rs1240469044
|
0.00001
|
NM_000268.4(NF2):c.347A>G (p.His116Arg)
|
rs371373672
|
0.00001
|
NM_000268.4(NF2):c.595G>A (p.Ala199Thr)
|
rs1261707371
|
0.00001
|
NM_000268.4(NF2):c.674G>A (p.Arg225Gln)
|
rs543087642
|
0.00001
|
NM_000268.4(NF2):c.676-104G>A
|
rs1040559021
|
0.00001
|
NM_000268.4(NF2):c.713C>T (p.Ala238Val)
|
rs761195572
|
0.00001
|
NM_000321.3(RB1):c.2356C>T (p.Pro786Ser)
|
rs754507551
|
0.00001
|
NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala)
|
rs371093730
|
0.00001
|
NM_000516.7(GNAS):c.367G>A (p.Glu123Lys)
|
rs769546153
|
0.00001
|
NM_000516.7(GNAS):c.683G>A (p.Arg228His)
|
rs1317816474
|
0.00001
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
NM_000546.6(TP53):c.461G>A (p.Gly154Asp)
|
rs762846821
|
0.00001
|
NM_000546.6(TP53):c.760A>G (p.Ile254Val)
|
rs746601313
|
0.00001
|
NM_001042492.3(NF1):c.4836G>A (p.Arg1612=)
|
rs1555533268
|
0.00001
|
NM_001375883.1(GPR161):c.1196A>G (p.Gln399Arg)
|
rs1412562086
|
0.00001
|
NM_001387283.1(SMARCA4):c.4193A>G (p.His1398Arg)
|
rs878854221
|
0.00001
|
NM_001387283.1(SMARCA4):c.4202C>T (p.Ala1401Val)
|
rs771008873
|
0.00001
|
NM_001387283.1(SMARCA4):c.4216C>T (p.Arg1406Cys)
|
rs587778686
|
0.00001
|
NM_001387283.1(SMARCA4):c.4217G>A (p.Arg1406His)
|
rs779801126
|
0.00001
|
NM_001387283.1(SMARCA4):c.4233G>T (p.Gln1411His)
|
rs780721689
|
0.00001
|
NM_001387283.1(SMARCA4):c.4234C>T (p.Arg1412Cys)
|
rs747852149
|
0.00001
|
NM_001387283.1(SMARCA4):c.4235G>A (p.Arg1412His)
|
rs769555654
|
0.00001
|
NM_001387283.1(SMARCA4):c.4240C>T (p.Leu1414Phe)
|
rs746165832
|
0.00001
|
NM_001387283.1(SMARCA4):c.4266G>A (p.Lys1422=)
|
rs896036433
|
0.00001
|
NM_002608.4(PDGFB):c.716T>C (p.Leu239Pro)
|
rs1932148548
|
0.00001
|
NM_003000.3(SDHB):c.14T>G (p.Val5Gly)
|
rs760565241
|
0.00001
|
NM_003000.3(SDHB):c.164A>G (p.Lys55Arg)
|
rs764843485
|
0.00001
|
NM_003000.3(SDHB):c.172A>G (p.Met58Val)
|
rs1201188410
|
0.00001
|
NM_003000.3(SDHB):c.19C>T (p.Leu7Phe)
|
rs745664191
|
0.00001
|
NM_003000.3(SDHB):c.205G>A (p.Gly69Ser)
|
rs1131691048
|
0.00001
|
NM_003000.3(SDHB):c.208C>A (p.Pro70Thr)
|
rs200890320
|
0.00001
|
NM_003000.3(SDHB):c.214G>A (p.Val72Ile)
|
rs1060503766
|
0.00001
|
NM_003000.3(SDHB):c.22T>C (p.Ser8Pro)
|
rs777447369
|
0.00001
|
NM_003000.3(SDHB):c.299C>G (p.Ser100Cys)
|
rs121917755
|
0.00001
|
NM_003000.3(SDHB):c.31C>T (p.Arg11Cys)
|
rs200868378
|
0.00001
|
NM_003000.3(SDHB):c.323G>A (p.Gly108Asp)
|
rs767062764
|
0.00001
|
NM_003000.3(SDHB):c.343C>G (p.Arg115Gly)
|
rs751000085
|
0.00001
|
NM_003000.3(SDHB):c.350T>C (p.Ile117Thr)
|
rs1553177755
|
0.00001
|
NM_003000.3(SDHB):c.356C>A (p.Thr119Asn)
|
rs11541234
|
0.00001
|
NM_003000.3(SDHB):c.362T>C (p.Leu121Pro)
|
rs775925040
|
0.00001
|
NM_003000.3(SDHB):c.365A>G (p.Asn122Ser)
|
rs1557741472
|
0.00001
|
NM_003000.3(SDHB):c.376A>G (p.Lys126Glu)
|
rs202095022
|
0.00001
|
NM_003000.3(SDHB):c.383A>G (p.Tyr128Cys)
|
rs772158627
|
0.00001
|
NM_003000.3(SDHB):c.399G>T (p.Met133Ile)
|
rs201403014
|
0.00001
|
NM_003000.3(SDHB):c.457A>G (p.Ile153Val)
|
rs1450956956
|
0.00001
|
NM_003000.3(SDHB):c.458T>C (p.Ile153Thr)
|
rs1396860069
|
0.00001
|
NM_003000.3(SDHB):c.464C>T (p.Pro155Leu)
|
rs1553177686
|
0.00001
|
NM_003000.3(SDHB):c.47C>G (p.Thr16Arg)
|
rs775350144
|
0.00001
|
NM_003000.3(SDHB):c.482A>G (p.Asp161Gly)
|
rs1049317868
|
0.00001
|
NM_003000.3(SDHB):c.488C>T (p.Ser163Phe)
|
rs769687734
|
0.00001
|
NM_003000.3(SDHB):c.49A>G (p.Thr17Ala)
|
rs1060503756
|
0.00001
|
NM_003000.3(SDHB):c.50C>T (p.Thr17Ile)
|
rs138979875
|
0.00001
|
NM_003000.3(SDHB):c.515A>G (p.Gln172Arg)
|
rs2077999528
|
0.00001
|
NM_003000.3(SDHB):c.523G>C (p.Glu175Gln)
|
rs202203339
|
0.00001
|
NM_003000.3(SDHB):c.527A>G (p.Glu176Gly)
|
rs201082445
|
0.00001
|
NM_003000.3(SDHB):c.536A>T (p.Lys179Ile)
|
rs1553177670
|
0.00001
|
NM_003000.3(SDHB):c.541G>A (p.Asp181Asn)
|
rs201385062
|
0.00001
|
NM_003000.3(SDHB):c.544G>T (p.Gly182Trp)
|
rs201928318
|
0.00001
|
NM_003000.3(SDHB):c.553G>A (p.Glu185Lys)
|
rs1045881797
|
0.00001
|
NM_003000.3(SDHB):c.568G>A (p.Ala190Thr)
|
rs199789177
|
0.00001
|
NM_003000.3(SDHB):c.581C>G (p.Thr194Ser)
|
rs200535030
|
0.00001
|
NM_003000.3(SDHB):c.584G>C (p.Ser195Thr)
|
rs1570945866
|
0.00001
|
NM_003000.3(SDHB):c.58G>C (p.Gly20Arg)
|
rs1557749649
|
0.00001
|
NM_003000.3(SDHB):c.607G>A (p.Gly203Arg)
|
rs201517260
|
0.00001
|
NM_003000.3(SDHB):c.61G>A (p.Ala21Thr)
|
rs774266782
|
0.00001
|
NM_003000.3(SDHB):c.629C>T (p.Ala210Val)
|
rs1252727177
|
0.00001
|
NM_003000.3(SDHB):c.635T>A (p.Leu212His)
|
rs1307247907
|
0.00001
|
NM_003000.3(SDHB):c.638T>C (p.Met213Thr)
|
rs202014362
|
0.00001
|
NM_003000.3(SDHB):c.642+6G>A
|
rs1326333007
|
0.00001
|
NM_003000.3(SDHB):c.644C>T (p.Ala215Val)
|
rs1060503761
|
0.00001
|
NM_003000.3(SDHB):c.679A>G (p.Thr227Ala)
|
rs1191046308
|
0.00001
|
NM_003000.3(SDHB):c.710C>G (p.Pro237Arg)
|
rs878854579
|
0.00001
|
NM_003000.3(SDHB):c.719T>C (p.Leu240Pro)
|
rs1131691046
|
0.00001
|
NM_003000.3(SDHB):c.749C>T (p.Thr250Ile)
|
rs1057517537
|
0.00001
|
NM_003000.3(SDHB):c.765G>C (p.Lys255Asn)
|
rs761295633
|
0.00001
|
NM_003000.3(SDHB):c.769C>G (p.Leu257Val)
|
rs761350633
|
0.00001
|
NM_003000.3(SDHB):c.778G>C (p.Gly260Arg)
|
rs1187293049
|
0.00001
|
NM_003000.3(SDHB):c.785C>T (p.Ala262Val)
|
rs776093267
|
0.00001
|
NM_003000.3(SDHB):c.790G>A (p.Ala264Thr)
|
rs2077946173
|
0.00001
|
NM_003000.3(SDHB):c.798C>G (p.Ile266Met)
|
rs760042733
|
0.00001
|
NM_003000.3(SDHB):c.7G>A (p.Ala3Thr)
|
rs765429934
|
0.00001
|
NM_003000.3(SDHB):c.809T>C (p.Met270Thr)
|
rs1557738263
|
0.00001
|
NM_003000.3(SDHB):c.80G>A (p.Arg27Gln)
|
rs373976827
|
0.00001
|
NM_003000.3(SDHB):c.814A>G (p.Thr272Ala)
|
rs545681543
|
0.00001
|
NM_003000.3(SDHB):c.835T>A (p.Ser279Thr)
|
rs1275426951
|
0.00001
|
NM_003001.5(SDHC):c.103A>G (p.Lys35Glu)
|
rs746315913
|
0.00001
|
NM_003001.5(SDHC):c.114G>C (p.Met38Ile)
|
rs868556406
|
0.00001
|
NM_003001.5(SDHC):c.116A>C (p.Glu39Ala)
|
rs1060501388
|
0.00001
|
NM_003001.5(SDHC):c.11T>C (p.Leu4Pro)
|
rs774299337
|
0.00001
|
NM_003001.5(SDHC):c.128A>G (p.Asn43Ser)
|
rs747349777
|
0.00001
|
NM_003001.5(SDHC):c.14T>C (p.Leu5Ser)
|
rs1277411736
|
0.00001
|
NM_003001.5(SDHC):c.15G>T (p.Leu5Phe)
|
rs771746264
|
0.00001
|
NM_003001.5(SDHC):c.205A>G (p.Ile69Val)
|
rs753561812
|
0.00001
|
NM_003001.5(SDHC):c.215G>A (p.Arg72His)
|
rs778582853
|
0.00001
|
NM_003001.5(SDHC):c.221C>T (p.Thr74Ile)
|
rs1332910409
|
0.00001
|
NM_003001.5(SDHC):c.238G>A (p.Ala80Thr)
|
rs149375851
|
0.00001
|
NM_003001.5(SDHC):c.23A>G (p.His8Arg)
|
rs776123707
|
0.00001
|
NM_003001.5(SDHC):c.242G>T (p.Gly81Val)
|
rs781756162
|
0.00001
|
NM_003001.5(SDHC):c.248C>G (p.Ser83Cys)
|
rs1227520085
|
0.00001
|
NM_003001.5(SDHC):c.259A>C (p.Met87Leu)
|
rs756382502
|
0.00001
|
NM_003001.5(SDHC):c.25G>A (p.Val9Ile)
|
rs774768866
|
0.00001
|
NM_003001.5(SDHC):c.261G>T (p.Met87Ile)
|
rs1558182772
|
0.00001
|
NM_003001.5(SDHC):c.263C>T (p.Ser88Leu)
|
rs778212096
|
0.00001
|
NM_003001.5(SDHC):c.268C>G (p.Leu90Val)
|
rs771138203
|
0.00001
|
NM_003001.5(SDHC):c.285C>G (p.Asn95Lys)
|
rs1347081665
|
0.00001
|
NM_003001.5(SDHC):c.295T>C (p.Tyr99His)
|
rs760678574
|
0.00001
|
NM_003001.5(SDHC):c.326G>C (p.Gly109Ala)
|
rs1571890248
|
0.00001
|
NM_003001.5(SDHC):c.334C>G (p.Leu112Val)
|
rs1329297940
|
0.00001
|
NM_003001.5(SDHC):c.358C>T (p.Leu120Phe)
|
rs1161002093
|
0.00001
|
NM_003001.5(SDHC):c.370C>T (p.Leu124Phe)
|
rs1571890420
|
0.00001
|
NM_003001.5(SDHC):c.398G>A (p.Arg133Gln)
|
rs386833414
|
0.00001
|
NM_003001.5(SDHC):c.40C>T (p.Leu14Phe)
|
rs760986608
|
0.00001
|
NM_003001.5(SDHC):c.431A>C (p.Lys144Thr)
|
rs876659889
|
0.00001
|
NM_003001.5(SDHC):c.436C>A (p.Pro146Thr)
|
rs541660851
|
0.00001
|
NM_003001.5(SDHC):c.476C>T (p.Thr159Ile)
|
rs773923942
|
0.00001
|
NM_003001.5(SDHC):c.47C>T (p.Ala16Val)
|
rs1558164567
|
0.00001
|
NM_003001.5(SDHC):c.54T>G (p.Phe18Leu)
|
rs200761743
|
0.00001
|
NM_003001.5(SDHC):c.5C>G (p.Ala2Gly)
|
rs781337432
|
0.00001
|
NM_003001.5(SDHC):c.64C>T (p.Leu22Phe)
|
rs1473438869
|
0.00001
|
NM_003001.5(SDHC):c.77+3A>G
|
rs750363498
|
0.00001
|
NM_003001.5(SDHC):c.7G>A (p.Ala3Thr)
|
rs748243732
|
0.00001
|
NM_003001.5(SDHC):c.82G>T (p.Val28Phe)
|
rs754818119
|
0.00001
|
NM_003001.5(SDHC):c.85C>G (p.Pro29Ala)
|
rs878854588
|
0.00001
|
NM_003001.5(SDHC):c.8C>T (p.Ala3Val)
|
rs142139022
|
0.00001
|
NM_003002.4(SDHD):c.148C>T (p.His50Tyr)
|
rs779249550
|
0.00001
|
NM_003002.4(SDHD):c.331G>A (p.Val111Ile)
|
rs201869798
|
0.00001
|
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile)
|
rs199869408
|
0.00001
|
NM_003002.4(SDHD):c.421T>C (p.Tyr141His)
|
rs1394514096
|
0.00001
|
NM_003002.4(SDHD):c.431A>G (p.Tyr144Cys)
|
rs745732631
|
0.00001
|
NM_003072.5(SMARCA4):c.1000G>A (p.Gly334Arg)
|
rs1364450672
|
0.00001
|
NM_003072.5(SMARCA4):c.1007C>T (p.Pro336Leu)
|
rs765058736
|
0.00001
|
NM_003072.5(SMARCA4):c.1013A>G (p.Gln338Arg)
|
rs757896781
|
0.00001
|
NM_003072.5(SMARCA4):c.101C>G (p.Pro34Arg)
|
rs2085811631
|
0.00001
|
NM_003072.5(SMARCA4):c.1050C>A (p.Ser350Arg)
|
rs777628688
|
0.00001
|
NM_003072.5(SMARCA4):c.1051C>T (p.Arg351Cys)
|
rs2086199522
|
0.00001
|
NM_003072.5(SMARCA4):c.1052G>A (p.Arg351His)
|
rs1018881303
|
0.00001
|
NM_003072.5(SMARCA4):c.1073C>T (p.Pro358Leu)
|
rs1060502094
|
0.00001
|
NM_003072.5(SMARCA4):c.1075C>T (p.Arg359Trp)
|
rs1213473194
|
0.00001
|
NM_003072.5(SMARCA4):c.107C>T (p.Pro36Leu)
|
rs766176476
|
0.00001
|
NM_003072.5(SMARCA4):c.1084G>A (p.Asp362Asn)
|
rs776534924
|
0.00001
|
NM_003072.5(SMARCA4):c.1098C>G (p.Ile366Met)
|
rs532242119
|
0.00001
|
NM_003072.5(SMARCA4):c.1135G>A (p.Ala379Thr)
|
rs769660597
|
0.00001
|
NM_003072.5(SMARCA4):c.1199C>T (p.Ala400Val)
|
rs1246299696
|
0.00001
|
NM_003072.5(SMARCA4):c.1204A>G (p.Ile402Val)
|
rs750861625
|
0.00001
|
NM_003072.5(SMARCA4):c.126G>A (p.Met42Ile)
|
rs765325777
|
0.00001
|
NM_003072.5(SMARCA4):c.1274G>A (p.Arg425Gln)
|
rs377549345
|
0.00001
|
NM_003072.5(SMARCA4):c.1303A>G (p.Asn435Asp)
|
rs371062068
|
0.00001
|
NM_003072.5(SMARCA4):c.131G>A (p.Gly44Glu)
|
rs1344101243
|
0.00001
|
NM_003072.5(SMARCA4):c.1322G>A (p.Arg441His)
|
rs761519909
|
0.00001
|
NM_003072.5(SMARCA4):c.1330C>T (p.Arg444Cys)
|
rs550815250
|
0.00001
|
NM_003072.5(SMARCA4):c.1403G>A (p.Arg468His)
|
rs1310204828
|
0.00001
|
NM_003072.5(SMARCA4):c.140C>T (p.Pro47Leu)
|
rs1284152280
|
0.00001
|
NM_003072.5(SMARCA4):c.1430A>G (p.Asn477Ser)
|
rs748930248
|
0.00001
|
NM_003072.5(SMARCA4):c.1477G>A (p.Val493Ile)
|
rs372078902
|
0.00001
|
NM_003072.5(SMARCA4):c.1517C>T (p.Thr506Met)
|
rs1286498410
|
0.00001
|
NM_003072.5(SMARCA4):c.163C>T (p.Pro55Ser)
|
rs1218848193
|
0.00001
|
NM_003072.5(SMARCA4):c.1762-10C>A
|
rs754221543
|
0.00001
|
NM_003072.5(SMARCA4):c.1765G>A (p.Ala589Thr)
|
rs765850087
|
0.00001
|
NM_003072.5(SMARCA4):c.1774G>A (p.Ala592Thr)
|
rs1257518561
|
0.00001
|
NM_003072.5(SMARCA4):c.1781G>A (p.Gly594Glu)
|
rs750891894
|
0.00001
|
NM_003072.5(SMARCA4):c.1787C>T (p.Thr596Met)
|
rs779952581
|
0.00001
|
NM_003072.5(SMARCA4):c.178G>A (p.Gly60Arg)
|
rs1307434805
|
0.00001
|
NM_003072.5(SMARCA4):c.1796T>C (p.Ile599Thr)
|
rs1207080512
|
0.00001
|
NM_003072.5(SMARCA4):c.1864G>A (p.Val622Met)
|
rs745382051
|
0.00001
|
NM_003072.5(SMARCA4):c.1886C>T (p.Thr629Ile)
|
rs947818318
|
0.00001
|
NM_003072.5(SMARCA4):c.1889G>A (p.Gly630Asp)
|
rs749533909
|
0.00001
|
NM_003072.5(SMARCA4):c.1907C>G (p.Ala636Gly)
|
rs201807686
|
0.00001
|
NM_003072.5(SMARCA4):c.1909G>A (p.Gly637Arg)
|
rs917552239
|
0.00001
|
NM_003072.5(SMARCA4):c.1915C>G (p.Leu639Val)
|
rs587778680
|
0.00001
|
NM_003072.5(SMARCA4):c.1933A>T (p.Met645Leu)
|
rs763375817
|
0.00001
|
NM_003072.5(SMARCA4):c.1940C>T (p.Pro647Leu)
|
rs2087817276
|
0.00001
|
NM_003072.5(SMARCA4):c.1958C>T (p.Pro653Leu)
|
rs774927302
|
0.00001
|
NM_003072.5(SMARCA4):c.1982G>A (p.Gly661Asp)
|
rs367689657
|
0.00001
|
NM_003072.5(SMARCA4):c.19C>A (p.Pro7Thr)
|
rs762625346
|
0.00001
|
NM_003072.5(SMARCA4):c.2001+5G>T
|
rs780996751
|
0.00001
|
NM_003072.5(SMARCA4):c.2021C>T (p.Pro674Leu)
|
rs747463080
|
0.00001
|
NM_003072.5(SMARCA4):c.205A>G (p.Met69Val)
|
rs2085822268
|
0.00001
|
NM_003072.5(SMARCA4):c.2066A>T (p.Lys689Met)
|
rs767328169
|
0.00001
|
NM_003072.5(SMARCA4):c.206T>C (p.Met69Thr)
|
rs1443052655
|
0.00001
|
NM_003072.5(SMARCA4):c.2086G>A (p.Asp696Asn)
|
rs1486794288
|
0.00001
|
NM_003072.5(SMARCA4):c.2110C>T (p.Arg704Trp)
|
rs781539973
|
0.00001
|
NM_003072.5(SMARCA4):c.2124-5C>A
|
rs182602020
|
0.00001
|
NM_003072.5(SMARCA4):c.2171T>G (p.Leu724Arg)
|
rs1414018244
|
0.00001
|
NM_003072.5(SMARCA4):c.2177G>A (p.Arg726His)
|
rs749349816
|
0.00001
|
NM_003072.5(SMARCA4):c.218A>G (p.His73Arg)
|
rs748147246
|
0.00001
|
NM_003072.5(SMARCA4):c.220A>C (p.Lys74Gln)
|
rs1060502059
|
0.00001
|
NM_003072.5(SMARCA4):c.2231A>G (p.Lys744Arg)
|
rs1291938544
|
0.00001
|
NM_003072.5(SMARCA4):c.2239G>A (p.Ala747Thr)
|
rs1228221272
|
0.00001
|
NM_003072.5(SMARCA4):c.2240C>T (p.Ala747Val)
|
rs2088720436
|
0.00001
|
NM_003072.5(SMARCA4):c.2257G>A (p.Val753Ile)
|
rs1483352845
|
0.00001
|
NM_003072.5(SMARCA4):c.2396A>G (p.His799Arg)
|
rs747912219
|
0.00001
|
NM_003072.5(SMARCA4):c.2404A>G (p.Ile802Val)
|
rs1454445195
|
0.00001
|
NM_003072.5(SMARCA4):c.2428G>A (p.Val810Met)
|
rs1060502056
|
0.00001
|
NM_003072.5(SMARCA4):c.2438+4A>C
|
rs771818596
|
0.00001
|
NM_003072.5(SMARCA4):c.2439-12T>G
|
rs1462368992
|
0.00001
|
NM_003072.5(SMARCA4):c.2456C>T (p.Ala819Val)
|
rs1276140261
|
0.00001
|
NM_003072.5(SMARCA4):c.2486T>C (p.Val829Ala)
|
rs1455752885
|
0.00001
|
NM_003072.5(SMARCA4):c.2505+4G>A
|
rs745383210
|
0.00001
|
NM_003072.5(SMARCA4):c.2506-3C>T
|
rs1060502095
|
0.00001
|
NM_003072.5(SMARCA4):c.251T>C (p.Met84Thr)
|
rs998875986
|
0.00001
|
NM_003072.5(SMARCA4):c.2528C>T (p.Ala843Val)
|
rs1568482840
|
0.00001
|
NM_003072.5(SMARCA4):c.2533G>A (p.Val845Ile)
|
rs878854210
|
0.00001
|
NM_003072.5(SMARCA4):c.2541G>C (p.Gln847His)
|
rs1064796361
|
0.00001
|
NM_003072.5(SMARCA4):c.2549G>T (p.Ser850Ile)
|
rs1394680906
|
0.00001
|
NM_003072.5(SMARCA4):c.254C>T (p.Ser85Leu)
|
rs751542188
|
0.00001
|
NM_003072.5(SMARCA4):c.2616+5C>T
|
rs763025766
|
0.00001
|
NM_003072.5(SMARCA4):c.266G>A (p.Arg89His)
|
rs1599941069
|
0.00001
|
NM_003072.5(SMARCA4):c.271A>C (p.Asn91His)
|
rs755987663
|
0.00001
|
NM_003072.5(SMARCA4):c.2859+3G>T
|
rs2089905213
|
0.00001
|
NM_003072.5(SMARCA4):c.28G>A (p.Gly10Arg)
|
rs140176945
|
0.00001
|
NM_003072.5(SMARCA4):c.3005C>T (p.Ala1002Val)
|
rs1350288991
|
0.00001
|
NM_003072.5(SMARCA4):c.302G>T (p.Gly101Val)
|
rs1555752083
|
0.00001
|
NM_003072.5(SMARCA4):c.305G>T (p.Gly102Val)
|
rs746602808
|
0.00001
|
NM_003072.5(SMARCA4):c.3086A>G (p.Lys1029Arg)
|
rs1288014090
|
0.00001
|
NM_003072.5(SMARCA4):c.308A>G (p.His103Arg)
|
rs770147215
|
0.00001
|
NM_003072.5(SMARCA4):c.3216-3C>T
|
rs1310639053
|
0.00001
|
NM_003072.5(SMARCA4):c.3218T>A (p.Leu1073Gln)
|
rs767165458
|
0.00001
|
NM_003072.5(SMARCA4):c.3263T>C (p.Ile1088Thr)
|
rs1363642477
|
0.00001
|
NM_003072.5(SMARCA4):c.326C>T (p.Pro109Leu)
|
rs763471007
|
0.00001
|
NM_003072.5(SMARCA4):c.3274C>T (p.Leu1092Phe)
|
rs1292810203
|
0.00001
|
NM_003072.5(SMARCA4):c.3350C>T (p.Ala1117Val)
|
rs755069412
|
0.00001
|
NM_003072.5(SMARCA4):c.3356G>A (p.Arg1119His)
|
rs370466670
|
0.00001
|
NM_003072.5(SMARCA4):c.335C>T (p.Pro112Leu)
|
rs1057523400
|
0.00001
|
NM_003072.5(SMARCA4):c.3383-3C>A
|
rs371558035
|
0.00001
|
NM_003072.5(SMARCA4):c.3409A>G (p.Met1137Val)
|
rs1194707294
|
0.00001
|
NM_003072.5(SMARCA4):c.3437G>A (p.Gly1146Asp)
|
rs566531015
|
0.00001
|
NM_003072.5(SMARCA4):c.344A>G (p.Gln115Arg)
|
rs1268937748
|
0.00001
|
NM_003072.5(SMARCA4):c.350C>T (p.Ser117Phe)
|
rs759594383
|
0.00001
|
NM_003072.5(SMARCA4):c.353A>G (p.Gln118Arg)
|
rs1339250127
|
0.00001
|
NM_003072.5(SMARCA4):c.3574C>T (p.Arg1192Cys)
|
rs1568509370
|
0.00001
|
NM_003072.5(SMARCA4):c.3598C>T (p.Arg1200Cys)
|
rs1600389401
|
0.00001
|
NM_003072.5(SMARCA4):c.35C>T (p.Pro12Leu)
|
rs1201812441
|
0.00001
|
NM_003072.5(SMARCA4):c.3628G>A (p.Val1210Met)
|
rs1358760766
|
0.00001
|
NM_003072.5(SMARCA4):c.371T>A (p.Leu124Gln)
|
rs754451765
|
0.00001
|
NM_003072.5(SMARCA4):c.3734C>T (p.Ala1245Val)
|
rs797045984
|
0.00001
|
NM_003072.5(SMARCA4):c.3774G>A (p.Glu1258=)
|
rs1568510163
|
0.00001
|
NM_003072.5(SMARCA4):c.3841G>A (p.Val1281Ile)
|
rs587778685
|
0.00001
|
NM_003072.5(SMARCA4):c.3874-9A>G
|
rs1371357028
|
0.00001
|
NM_003072.5(SMARCA4):c.3904G>A (p.Val1302Ile)
|
rs1185321977
|
0.00001
|
NM_003072.5(SMARCA4):c.3919G>A (p.Ala1307Thr)
|
rs1568512220
|
0.00001
|
NM_003072.5(SMARCA4):c.400G>T (p.Val134Phe)
|
rs1057520203
|
0.00001
|
NM_003072.5(SMARCA4):c.4042A>G (p.Ile1348Val)
|
rs1221798183
|
0.00001
|
NM_003072.5(SMARCA4):c.4054G>A (p.Ala1352Thr)
|
rs1228120902
|
0.00001
|
NM_003072.5(SMARCA4):c.4067G>A (p.Arg1356Gln)
|
rs1204091534
|
0.00001
|
NM_003072.5(SMARCA4):c.4098G>A (p.Met1366Ile)
|
rs763586264
|
0.00001
|
NM_003072.5(SMARCA4):c.4106G>A (p.Arg1369His)
|
rs1388796557
|
0.00001
|
NM_003072.5(SMARCA4):c.4187C>T (p.Thr1396Met)
|
rs1262500025
|
0.00001
|
NM_003072.5(SMARCA4):c.4210G>A (p.Val1404Ile)
|
rs1555788108
|
0.00001
|
NM_003072.5(SMARCA4):c.4214G>A (p.Arg1405Gln)
|
rs1016382250
|
0.00001
|
NM_003072.5(SMARCA4):c.4221G>T (p.Lys1407Asn)
|
rs1384070535
|
0.00001
|
NM_003072.5(SMARCA4):c.422C>T (p.Ser141Leu)
|
rs1060502073
|
0.00001
|
NM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln)
|
rs886054155
|
0.00001
|
NM_003072.5(SMARCA4):c.4237C>T (p.Arg1413Cys)
|
rs558017726
|
0.00001
|
NM_003072.5(SMARCA4):c.4244G>A (p.Arg1415Gln)
|
rs878854225
|
0.00001
|
NM_003072.5(SMARCA4):c.4252G>A (p.Asp1418Asn)
|
rs761083981
|
0.00001
|
NM_003072.5(SMARCA4):c.4262C>T (p.Ser1421Phe)
|
rs150958750
|
0.00001
|
NM_003072.5(SMARCA4):c.4273A>T (p.Thr1425Ser)
|
rs1060502082
|
0.00001
|
NM_003072.5(SMARCA4):c.4277C>T (p.Thr1426Ile)
|
rs1334955221
|
0.00001
|
NM_003072.5(SMARCA4):c.4286G>A (p.Arg1429His)
|
rs1290442223
|
0.00001
|
NM_003072.5(SMARCA4):c.4291C>T (p.Arg1431Cys)
|
rs587778681
|
0.00001
|
NM_003072.5(SMARCA4):c.4292G>A (p.Arg1431His)
|
rs377573682
|
0.00001
|
NM_003072.5(SMARCA4):c.4306G>A (p.Glu1436Lys)
|
rs779143381
|
0.00001
|
NM_003072.5(SMARCA4):c.4354T>C (p.Ser1452Pro)
|
rs1267513562
|
0.00001
|
NM_003072.5(SMARCA4):c.4436G>A (p.Arg1479His)
|
rs1057523566
|
0.00001
|
NM_003072.5(SMARCA4):c.443G>T (p.Gly148Val)
|
rs766946874
|
0.00001
|
NM_003072.5(SMARCA4):c.4447G>A (p.Glu1483Lys)
|
rs1303255317
|
0.00001
|
NM_003072.5(SMARCA4):c.4497G>C (p.Glu1499Asp)
|
rs1264821826
|
0.00001
|
NM_003072.5(SMARCA4):c.4546A>G (p.Asn1516Asp)
|
rs587778684
|
0.00001
|
NM_003072.5(SMARCA4):c.4547A>G (p.Asn1516Ser)
|
rs767810437
|
0.00001
|
NM_003072.5(SMARCA4):c.455C>T (p.Ala152Val)
|
rs777272957
|
0.00001
|
NM_003072.5(SMARCA4):c.458C>T (p.Pro153Leu)
|
rs539710314
|
0.00001
|
NM_003072.5(SMARCA4):c.4592T>A (p.Leu1531His)
|
rs1389184364
|
0.00001
|
NM_003072.5(SMARCA4):c.4664C>T (p.Ser1555Leu)
|
rs1057523990
|
0.00001
|
NM_003072.5(SMARCA4):c.4681C>T (p.Arg1561Trp)
|
rs749700321
|
0.00001
|
NM_003072.5(SMARCA4):c.4693_4695del (p.Glu1565del)
|
rs1176307604
|
0.00001
|
NM_003072.5(SMARCA4):c.4696A>G (p.Lys1566Glu)
|
rs1470609623
|
0.00001
|
NM_003072.5(SMARCA4):c.4717G>A (p.Glu1573Lys)
|
rs775433905
|
0.00001
|
NM_003072.5(SMARCA4):c.472G>A (p.Asp158Asn)
|
rs1386092080
|
0.00001
|
NM_003072.5(SMARCA4):c.4738G>C (p.Glu1580Gln)
|
rs1600644640
|
0.00001
|
NM_003072.5(SMARCA4):c.4744G>A (p.Glu1582Lys)
|
rs768899897
|
0.00001
|
NM_003072.5(SMARCA4):c.4753G>T (p.Gly1585Cys)
|
rs2076756606
|
0.00001
|
NM_003072.5(SMARCA4):c.476C>A (p.Pro159His)
|
rs747458180
|
0.00001
|
NM_003072.5(SMARCA4):c.4771C>T (p.Arg1591Trp)
|
rs1303089960
|
0.00001
|
NM_003072.5(SMARCA4):c.4772G>A (p.Arg1591Gln)
|
rs1356932636
|
0.00001
|
NM_003072.5(SMARCA4):c.4777G>A (p.Val1593Ile)
|
rs753578157
|
0.00001
|
NM_003072.5(SMARCA4):c.4783G>A (p.Val1595Met)
|
rs1568565611
|
0.00001
|
NM_003072.5(SMARCA4):c.4793A>G (p.Lys1598Arg)
|
rs1195158895
|
0.00001
|
NM_003072.5(SMARCA4):c.4802G>A (p.Arg1601Gln)
|
rs1484835507
|
0.00001
|
NM_003072.5(SMARCA4):c.4813G>A (p.Ala1605Thr)
|
rs141224876
|
0.00001
|
NM_003072.5(SMARCA4):c.4817A>G (p.Gln1606Arg)
|
rs878854231
|
0.00001
|
NM_003072.5(SMARCA4):c.4822C>T (p.Arg1608Trp)
|
rs1568565786
|
0.00001
|
NM_003072.5(SMARCA4):c.4834G>A (p.Gly1612Ser)
|
rs372319442
|
0.00001
|
NM_003072.5(SMARCA4):c.4837C>T (p.Arg1613Trp)
|
rs1370639203
|
0.00001
|
NM_003072.5(SMARCA4):c.4843C>T (p.Arg1615Trp)
|
rs902428108
|
0.00001
|
NM_003072.5(SMARCA4):c.4844G>A (p.Arg1615Gln)
|
rs1278313953
|
0.00001
|
NM_003072.5(SMARCA4):c.4853G>A (p.Arg1618Gln)
|
rs1029465394
|
0.00001
|
NM_003072.5(SMARCA4):c.4862G>A (p.Arg1621Gln)
|
rs964459864
|
0.00001
|
NM_003072.5(SMARCA4):c.4865C>T (p.Ala1622Val)
|
rs1275554425
|
0.00001
|
NM_003072.5(SMARCA4):c.4871C>T (p.Pro1624Leu)
|
rs756255060
|
0.00001
|
NM_003072.5(SMARCA4):c.4876G>A (p.Val1626Met)
|
rs757412819
|
0.00001
|
NM_003072.5(SMARCA4):c.4885G>A (p.Asp1629Asn)
|
rs374648988
|
0.00001
|
NM_003072.5(SMARCA4):c.4898A>G (p.Glu1633Gly)
|
rs1437896707
|
0.00001
|
NM_003072.5(SMARCA4):c.4907A>G (p.Glu1636Gly)
|
rs1233964657
|
0.00001
|
NM_003072.5(SMARCA4):c.4909G>A (p.Glu1637Lys)
|
rs1298648044
|
0.00001
|
NM_003072.5(SMARCA4):c.4911+1G>A
|
rs1341783002
|
0.00001
|
NM_003072.5(SMARCA4):c.4911+20C>T
|
rs1476216089
|
0.00001
|
NM_003072.5(SMARCA4):c.4911+4A>G
|
rs371030397
|
0.00001
|
NM_003072.5(SMARCA4):c.4911+5G>A
|
rs534705500
|
0.00001
|
NM_003072.5(SMARCA4):c.4911+6G>C
|
rs878854235
|
0.00001
|
NM_003072.5(SMARCA4):c.4915C>T (p.Arg1639Cys)
|
rs776222414
|
0.00001
|
NM_003072.5(SMARCA4):c.499C>T (p.Arg167Trp)
|
rs11537673
|
0.00001
|
NM_003072.5(SMARCA4):c.500G>A (p.Arg167Gln)
|
rs748340475
|
0.00001
|
NM_003072.5(SMARCA4):c.608C>T (p.Ala203Val)
|
rs780497718
|
0.00001
|
NM_003072.5(SMARCA4):c.622C>T (p.Arg208Trp)
|
rs748298484
|
0.00001
|
NM_003072.5(SMARCA4):c.623G>A (p.Arg208Gln)
|
rs769756381
|
0.00001
|
NM_003072.5(SMARCA4):c.630G>T (p.Met210Ile)
|
rs1043452739
|
0.00001
|
NM_003072.5(SMARCA4):c.632C>T (p.Pro211Leu)
|
rs1046912361
|
0.00001
|
NM_003072.5(SMARCA4):c.648G>C (p.Gln216His)
|
rs878854236
|
0.00001
|
NM_003072.5(SMARCA4):c.650T>G (p.Met217Arg)
|
rs1060502066
|
0.00001
|
NM_003072.5(SMARCA4):c.65C>T (p.Pro22Leu)
|
rs1227659334
|
0.00001
|
NM_003072.5(SMARCA4):c.664C>T (p.Pro222Ser)
|
rs1466661081
|
0.00001
|
NM_003072.5(SMARCA4):c.665C>T (p.Pro222Leu)
|
rs533671711
|
0.00001
|
NM_003072.5(SMARCA4):c.682A>G (p.Thr228Ala)
|
rs1021610405
|
0.00001
|
NM_003072.5(SMARCA4):c.688C>G (p.Pro230Ala)
|
rs760294422
|
0.00001
|
NM_003072.5(SMARCA4):c.691G>A (p.Gly231Ser)
|
rs555467836
|
0.00001
|
NM_003072.5(SMARCA4):c.703G>A (p.Gly235Ser)
|
rs1219033025
|
0.00001
|
NM_003072.5(SMARCA4):c.731C>T (p.Pro244Leu)
|
rs587778683
|
0.00001
|
NM_003072.5(SMARCA4):c.737C>T (p.Pro246Leu)
|
rs1366344437
|
0.00001
|
NM_003072.5(SMARCA4):c.748A>G (p.Ser250Gly)
|
rs774511507
|
0.00001
|
NM_003072.5(SMARCA4):c.749G>C (p.Ser250Thr)
|
rs1257597317
|
0.00001
|
NM_003072.5(SMARCA4):c.755C>T (p.Pro252Leu)
|
rs1316419985
|
0.00001
|
NM_003072.5(SMARCA4):c.757C>T (p.His253Tyr)
|
rs1210836682
|
0.00001
|
NM_003072.5(SMARCA4):c.761G>C (p.Gly254Ala)
|
rs767708564
|
0.00001
|
NM_003072.5(SMARCA4):c.763A>G (p.Met255Val)
|
rs754085815
|
0.00001
|
NM_003072.5(SMARCA4):c.768A>T (p.Gly256=)
|
rs1599957054
|
0.00001
|
NM_003072.5(SMARCA4):c.780G>C (p.Met260Ile)
|
rs753962571
|
0.00001
|
NM_003072.5(SMARCA4):c.788C>G (p.Pro263Arg)
|
rs1489647083
|
0.00001
|
NM_003072.5(SMARCA4):c.805C>T (p.Pro269Ser)
|
rs759641262
|
0.00001
|
NM_003072.5(SMARCA4):c.811G>A (p.Gly271Arg)
|
rs769414440
|
0.00001
|
NM_003072.5(SMARCA4):c.821G>A (p.Gly274Asp)
|
rs762655769
|
0.00001
|
NM_003072.5(SMARCA4):c.829C>T (p.Pro277Ser)
|
rs767947665
|
0.00001
|
NM_003072.5(SMARCA4):c.847C>T (p.Pro283Ser)
|
rs775769095
|
0.00001
|
NM_003072.5(SMARCA4):c.865A>G (p.Met289Val)
|
rs750547893
|
0.00001
|
NM_003072.5(SMARCA4):c.869C>T (p.Ala290Val)
|
rs763054014
|
0.00001
|
NM_003072.5(SMARCA4):c.872A>T (p.Asn291Ile)
|
rs751791309
|
0.00001
|
NM_003072.5(SMARCA4):c.890G>A (p.Ser297Asn)
|
rs756170542
|
0.00001
|
NM_003072.5(SMARCA4):c.893C>A (p.Thr298Asn)
|
rs748459210
|
0.00001
|
NM_003072.5(SMARCA4):c.908T>C (p.Ile303Thr)
|
rs778446601
|
0.00001
|
NM_003072.5(SMARCA4):c.925G>A (p.Gly309Ser)
|
rs773701962
|
0.00001
|
NM_003072.5(SMARCA4):c.925G>C (p.Gly309Arg)
|
rs773701962
|
0.00001
|
NM_003072.5(SMARCA4):c.926G>T (p.Gly309Val)
|
rs762999710
|
0.00001
|
NM_003072.5(SMARCA4):c.941C>T (p.Ala314Val)
|
rs549254467
|
0.00001
|
NM_003072.5(SMARCA4):c.947C>T (p.Pro316Leu)
|
rs878854245
|
0.00001
|
NM_003072.5(SMARCA4):c.94C>T (p.Pro32Ser)
|
rs1304026031
|
0.00001
|
NM_003072.5(SMARCA4):c.952G>A (p.Val318Ile)
|
rs758091260
|
0.00001
|
NM_003072.5(SMARCA4):c.958C>T (p.Pro320Ser)
|
rs1460796481
|
0.00001
|
NM_003072.5(SMARCA4):c.95C>T (p.Pro32Leu)
|
rs910095001
|
0.00001
|
NM_003072.5(SMARCA4):c.961G>A (p.Ala321Thr)
|
rs1344296942
|
0.00001
|
NM_003072.5(SMARCA4):c.973G>A (p.Val325Met)
|
rs1361910224
|
0.00001
|
NM_003072.5(SMARCA4):c.979C>A (p.Pro327Thr)
|
rs770946823
|
0.00001
|
NM_003072.5(SMARCA4):c.97G>C (p.Gly33Arg)
|
rs1060502096
|
0.00001
|
NM_003072.5(SMARCA4):c.983C>T (p.Pro328Leu)
|
rs370097699
|
0.00001
|
NM_003072.5(SMARCA4):c.993G>T (p.Gln331His)
|
rs1599969549
|
0.00001
|
NM_003079.5(SMARCE1):c.1003G>A (p.Asp335Asn)
|
rs767569116
|
0.00001
|
NM_003079.5(SMARCE1):c.1015C>G (p.Pro339Ala)
|
rs1025768618
|
0.00001
|
NM_003079.5(SMARCE1):c.1016C>T (p.Pro339Leu)
|
rs1060501398
|
0.00001
|
NM_003079.5(SMARCE1):c.1027+5C>G
|
rs771556643
|
0.00001
|
NM_003079.5(SMARCE1):c.1039C>G (p.Leu347Val)
|
rs267604854
|
0.00001
|
NM_003079.5(SMARCE1):c.1042G>A (p.Glu348Lys)
|
rs754993965
|
0.00001
|
NM_003079.5(SMARCE1):c.1055A>G (p.Glu352Gly)
|
rs1198138077
|
0.00001
|
NM_003079.5(SMARCE1):c.1082C>T (p.Thr361Met)
|
rs766200637
|
0.00001
|
NM_003079.5(SMARCE1):c.1090C>T (p.Pro364Ser)
|
rs1205865722
|
0.00001
|
NM_003079.5(SMARCE1):c.1123G>A (p.Asp375Asn)
|
rs746301638
|
0.00001
|
NM_003079.5(SMARCE1):c.1129A>G (p.Met377Val)
|
rs781353760
|
0.00001
|
NM_003079.5(SMARCE1):c.1145C>T (p.Thr382Ile)
|
rs1314554797
|
0.00001
|
NM_003079.5(SMARCE1):c.1148G>A (p.Ser383Asn)
|
rs1555605079
|
0.00001
|
NM_003079.5(SMARCE1):c.1159A>C (p.Thr387Pro)
|
rs1270010378
|
0.00001
|
NM_003079.5(SMARCE1):c.1165T>C (p.Ser389Pro)
|
rs758595837
|
0.00001
|
NM_003079.5(SMARCE1):c.1166C>T (p.Ser389Leu)
|
rs376181802
|
0.00001
|
NM_003079.5(SMARCE1):c.1210A>G (p.Ile404Val)
|
rs751165188
|
0.00001
|
NM_003079.5(SMARCE1):c.1213C>G (p.Pro405Ala)
|
rs767835921
|
0.00001
|
NM_003079.5(SMARCE1):c.173C>T (p.Thr58Met)
|
rs1353575590
|
0.00001
|
NM_003079.5(SMARCE1):c.238-15T>A
|
rs766494520
|
0.00001
|
NM_003079.5(SMARCE1):c.26C>T (p.Pro9Leu)
|
rs1415603265
|
0.00001
|
NM_003079.5(SMARCE1):c.386C>A (p.Ser129Tyr)
|
rs769255223
|
0.00001
|
NM_003079.5(SMARCE1):c.440G>A (p.Ser147Asn)
|
rs779169160
|
0.00001
|
NM_003079.5(SMARCE1):c.455C>T (p.Ala152Val)
|
rs781231331
|
0.00001
|
NM_003079.5(SMARCE1):c.473G>A (p.Arg158Gln)
|
rs757138170
|
0.00001
|
NM_003079.5(SMARCE1):c.487C>T (p.Arg163Cys)
|
rs190432371
|
0.00001
|
NM_003079.5(SMARCE1):c.488G>A (p.Arg163His)
|
rs762623799
|
0.00001
|
NM_003079.5(SMARCE1):c.515G>A (p.Ser172Asn)
|
rs2037142277
|
0.00001
|
NM_003079.5(SMARCE1):c.517A>G (p.Ile173Val)
|
rs2037142228
|
0.00001
|
NM_003079.5(SMARCE1):c.544T>G (p.Tyr182Asp)
|
rs1429023644
|
0.00001
|
NM_003079.5(SMARCE1):c.562A>G (p.Met188Val)
|
rs765003978
|
0.00001
|
NM_003079.5(SMARCE1):c.580G>A (p.Ala194Thr)
|
rs753397709
|
0.00001
|
NM_003079.5(SMARCE1):c.647G>A (p.Arg216Gln)
|
rs1213211505
|
0.00001
|
NM_003079.5(SMARCE1):c.716G>A (p.Arg239Gln)
|
rs1240408861
|
0.00001
|
NM_003079.5(SMARCE1):c.741A>C (p.Gln247His)
|
rs1356231337
|
0.00001
|
NM_003079.5(SMARCE1):c.784A>G (p.Ser262Gly)
|
rs1432681998
|
0.00001
|
NM_003079.5(SMARCE1):c.817-3T>C
|
rs779984224
|
0.00001
|
NM_003079.5(SMARCE1):c.868G>A (p.Ala290Thr)
|
rs1395650269
|
0.00001
|
NM_003079.5(SMARCE1):c.901G>A (p.Glu301Lys)
|
rs1442599198
|
0.00001
|
NM_003079.5(SMARCE1):c.932C>T (p.Ala311Val)
|
rs768536854
|
0.00001
|
NM_003079.5(SMARCE1):c.937C>T (p.Arg313Cys)
|
rs769672368
|
0.00001
|
NM_003079.5(SMARCE1):c.943C>G (p.Gln315Glu)
|
rs1597742452
|
0.00001
|
NM_003079.5(SMARCE1):c.947G>A (p.Ser316Asn)
|
rs1307734637
|
0.00001
|
NM_003079.5(SMARCE1):c.956T>C (p.Val319Ala)
|
rs758831830
|
0.00001
|
NM_003079.5(SMARCE1):c.958C>T (p.Pro320Ser)
|
rs1176390337
|
0.00001
|
NM_003079.5(SMARCE1):c.959C>T (p.Pro320Leu)
|
rs2037085756
|
0.00001
|
NM_003079.5(SMARCE1):c.986G>A (p.Gly329Asp)
|
rs2037085537
|
0.00001
|
NM_003079.5(SMARCE1):c.987C>T (p.Gly329=)
|
rs779268474
|
0.00001
|
NM_003640.5(ELP1):c.1294C>T (p.His432Tyr)
|
rs773228197
|
0.00001
|
NM_003640.5(ELP1):c.1990T>C (p.Cys664Arg)
|
rs762636526
|
0.00001
|
NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu)
|
rs376699949
|
0.00001
|
NM_003640.5(ELP1):c.2065C>T (p.Arg689Trp)
|
rs201390288
|
0.00001
|
NM_003640.5(ELP1):c.2134C>T (p.Pro712Ser)
|
rs370772658
|
0.00001
|
NM_003640.5(ELP1):c.2189G>A (p.Arg730Gln)
|
rs374558203
|
0.00001
|
NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg)
|
rs1034776233
|
0.00001
|
NM_003640.5(ELP1):c.2295A>T (p.Gly765=)
|
rs137874743
|
0.00001
|
NM_003640.5(ELP1):c.22C>T (p.Arg8Trp)
|
rs150202264
|
0.00001
|
NM_003640.5(ELP1):c.2461G>A (p.Asp821Asn)
|
rs770590151
|
0.00001
|
NM_003640.5(ELP1):c.274G>A (p.Val92Ile)
|
rs757852635
|
0.00001
|
NM_003640.5(ELP1):c.2806A>G (p.Ile936Val)
|
rs1239561807
|
0.00001
|
NM_003640.5(ELP1):c.2932T>C (p.Tyr978His)
|
rs1435854424
|
0.00001
|
NM_003640.5(ELP1):c.2951A>G (p.Gln984Arg)
|
rs371186754
|
0.00001
|
NM_003640.5(ELP1):c.3031C>T (p.Arg1011Cys)
|
rs763981711
|
0.00001
|
NM_003640.5(ELP1):c.3040G>A (p.Ala1014Thr)
|
rs770540843
|
0.00001
|
NM_003640.5(ELP1):c.3551A>G (p.His1184Arg)
|
rs201781695
|
0.00001
|
NM_003640.5(ELP1):c.3903G>T (p.Gln1301His)
|
rs200524123
|
0.00001
|
NM_003640.5(ELP1):c.601C>T (p.Arg201Trp)
|
rs773117166
|
0.00001
|
NM_003640.5(ELP1):c.856G>C (p.Glu286Gln)
|
rs777790000
|
0.00001
|
NM_003738.5(PTCH2):c.109C>T (p.Arg37Cys)
|
rs768246990
|
0.00001
|
NM_003738.5(PTCH2):c.550G>A (p.Val184Met)
|
rs748846701
|
0.00001
|
NM_003977.4(AIP):c.115C>T (p.Arg39Trp)
|
rs781366620
|
0.00001
|
NM_003977.4(AIP):c.140G>A (p.Gly47Asp)
|
rs1164577485
|
0.00001
|
NM_003977.4(AIP):c.160C>T (p.Arg54Trp)
|
rs752553438
|
0.00001
|
NM_003977.4(AIP):c.166C>T (p.Arg56Cys)
|
rs267606538
|
0.00001
|
NM_003977.4(AIP):c.174G>C (p.Lys58Asn)
|
rs267606539
|
0.00001
|
NM_003977.4(AIP):c.316C>T (p.Arg106Cys)
|
rs369414668
|
0.00001
|
NM_003977.4(AIP):c.419C>T (p.Ala140Val)
|
rs762219351
|
0.00001
|
NM_003977.4(AIP):c.468+3G>A
|
rs868823652
|
0.00001
|
NM_003977.4(AIP):c.469-17T>C
|
rs886037872
|
0.00001
|
NM_003977.4(AIP):c.476G>A (p.Ser159Asn)
|
rs536239840
|
0.00001
|
NM_003977.4(AIP):c.571C>T (p.Arg191Cys)
|
rs189861025
|
0.00001
|
NM_003977.4(AIP):c.73C>T (p.Leu25Phe)
|
rs777083581
|
0.00001
|
NM_003977.4(AIP):c.745G>A (p.Glu249Lys)
|
rs1313811815
|
0.00001
|
NM_003977.4(AIP):c.79G>C (p.Asp27His)
|
rs1024903808
|
0.00001
|
NM_003977.4(AIP):c.944A>C (p.Gln315Pro)
|
rs886048585
|
0.00001
|
NM_004168.4(SDHA):c.1000G>A (p.Ala334Thr)
|
rs1401459296
|
0.00001
|
NM_004168.4(SDHA):c.1016C>T (p.Ser339Phe)
|
rs1553999043
|
0.00001
|
NM_004168.4(SDHA):c.101A>G (p.His34Arg)
|
rs757478250
|
0.00001
|
NM_004168.4(SDHA):c.1031C>T (p.Ser344Phe)
|
rs1735563548
|
0.00001
|
NM_004168.4(SDHA):c.1033C>T (p.Arg345Trp)
|
rs760598746
|
0.00001
|
NM_004168.4(SDHA):c.1041G>A (p.Met347Ile)
|
rs1560994934
|
0.00001
|
NM_004168.4(SDHA):c.1075C>T (p.Pro359Ser)
|
rs758817818
|
0.00001
|
NM_004168.4(SDHA):c.1078G>A (p.Glu360Lys)
|
rs766779919
|
0.00001
|
NM_004168.4(SDHA):c.107C>T (p.Thr36Ile)
|
rs1440814662
|
0.00001
|
NM_004168.4(SDHA):c.1090G>A (p.Val364Ile)
|
rs372738835
|
0.00001
|
NM_004168.4(SDHA):c.1099C>G (p.Gln367Glu)
|
rs780941330
|
0.00001
|
NM_004168.4(SDHA):c.10G>T (p.Val4Phe)
|
rs778069799
|
0.00001
|
NM_004168.4(SDHA):c.1122G>T (p.Glu374Asp)
|
rs377283167
|
0.00001
|
NM_004168.4(SDHA):c.1127T>C (p.Leu376Pro)
|
rs1433477205
|
0.00001
|
NM_004168.4(SDHA):c.1132A>G (p.Thr378Ala)
|
rs1224187912
|
0.00001
|
NM_004168.4(SDHA):c.1133C>T (p.Thr378Met)
|
rs777420907
|
0.00001
|
NM_004168.4(SDHA):c.1144G>A (p.Gly382Ser)
|
rs1272640628
|
0.00001
|
NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala)
|
rs776888362
|
0.00001
|
NM_004168.4(SDHA):c.1157C>T (p.Thr386Ile)
|
rs773218958
|
0.00001
|
NM_004168.4(SDHA):c.1165A>G (p.Ile389Val)
|
rs1316310818
|
0.00001
|
NM_004168.4(SDHA):c.1187C>T (p.Thr396Met)
|
rs757251714
|
0.00001
|
NM_004168.4(SDHA):c.1190A>C (p.Lys397Thr)
|
rs745798689
|
0.00001
|
NM_004168.4(SDHA):c.1196C>A (p.Pro399Gln)
|
rs878854625
|
0.00001
|
NM_004168.4(SDHA):c.1196C>T (p.Pro399Leu)
|
rs878854625
|
0.00001
|
NM_004168.4(SDHA):c.1210C>T (p.Pro404Ser)
|
rs769936006
|
0.00001
|
NM_004168.4(SDHA):c.121A>C (p.Lys41Gln)
|
rs1061520
|
0.00001
|
NM_004168.4(SDHA):c.1220A>G (p.His407Arg)
|
rs374087393
|
0.00001
|
NM_004168.4(SDHA):c.1225A>C (p.Asn409His)
|
rs1404377989
|
0.00001
|
NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser)
|
rs768055345
|
0.00001
|
NM_004168.4(SDHA):c.1250A>G (p.Tyr417Cys)
|
rs528628545
|
0.00001
|
NM_004168.4(SDHA):c.125G>A (p.Arg42Lys)
|
rs747557411
|
0.00001
|
NM_004168.4(SDHA):c.1260+4A>G
|
rs1060503702
|
0.00001
|
NM_004168.4(SDHA):c.1276A>C (p.Asn426His)
|
rs1735781689
|
0.00001
|
NM_004168.4(SDHA):c.127G>A (p.Ala43Thr)
|
rs1579379865
|
0.00001
|
NM_004168.4(SDHA):c.1298C>T (p.Pro433Leu)
|
rs747488969
|
0.00001
|
NM_004168.4(SDHA):c.1300G>A (p.Gly434Ser)
|
rs529198317
|
0.00001
|
NM_004168.4(SDHA):c.1306T>C (p.Tyr436His)
|
rs772729820
|
0.00001
|
NM_004168.4(SDHA):c.1358G>A (p.Gly453Glu)
|
rs1169286790
|
0.00001
|
NM_004168.4(SDHA):c.1381G>T (p.Val461Phe)
|
rs373021394
|
0.00001
|
NM_004168.4(SDHA):c.1382T>C (p.Val461Ala)
|
rs767452676
|
0.00001
|
NM_004168.4(SDHA):c.1393C>T (p.Arg465Trp)
|
rs752461029
|
0.00001
|
NM_004168.4(SDHA):c.1414G>A (p.Glu472Lys)
|
rs143798161
|
0.00001
|
NM_004168.4(SDHA):c.1424G>A (p.Cys475Tyr)
|
rs748567636
|
0.00001
|
NM_004168.4(SDHA):c.1429C>T (p.Pro477Ser)
|
rs770506764
|
0.00001
|
NM_004168.4(SDHA):c.1430C>T (p.Pro477Leu)
|
rs146990772
|
0.00001
|
NM_004168.4(SDHA):c.1432+16A>G
|
rs753631065
|
0.00001
|
NM_004168.4(SDHA):c.1445C>A (p.Pro482His)
|
rs759661610
|
0.00001
|
NM_004168.4(SDHA):c.1450A>G (p.Ile484Val)
|
rs1224049828
|
0.00001
|
NM_004168.4(SDHA):c.1456C>A (p.Pro486Thr)
|
rs1060503706
|
0.00001
|
NM_004168.4(SDHA):c.1459A>C (p.Asn487His)
|
rs1208182306
|
0.00001
|
NM_004168.4(SDHA):c.1472A>C (p.Glu491Ala)
|
rs754324916
|
0.00001
|
NM_004168.4(SDHA):c.1483A>G (p.Asn495Asp)
|
rs757663708
|
0.00001
|
NM_004168.4(SDHA):c.1546C>G (p.Gln516Glu)
|
rs1251348764
|
0.00001
|
NM_004168.4(SDHA):c.1551G>A (p.Lys517=)
|
rs772822136
|
0.00001
|
NM_004168.4(SDHA):c.1552-3C>T
|
rs1222778933
|
0.00001
|
NM_004168.4(SDHA):c.1579C>T (p.Arg527Cys)
|
rs138723511
|
0.00001
|
NM_004168.4(SDHA):c.1627T>C (p.Tyr543His)
|
rs1339009840
|
0.00001
|
NM_004168.4(SDHA):c.1628A>G (p.Tyr543Cys)
|
rs778670859
|
0.00001
|
NM_004168.4(SDHA):c.1630G>A (p.Gly544Arg)
|
rs1338347881
|
0.00001
|
NM_004168.4(SDHA):c.1641G>C (p.Lys547Asn)
|
rs1267429398
|
0.00001
|
NM_004168.4(SDHA):c.1687G>A (p.Val563Met)
|
rs1736814459
|
0.00001
|
NM_004168.4(SDHA):c.1696C>G (p.Leu566Val)
|
rs142936520
|
0.00001
|
NM_004168.4(SDHA):c.1717C>G (p.Leu573Val)
|
rs1445945083
|
0.00001
|
NM_004168.4(SDHA):c.1739A>G (p.Tyr580Cys)
|
rs372707443
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln)
|
rs752360961
|
0.00001
|
NM_004168.4(SDHA):c.1772C>T (p.Ala591Val)
|
rs367621815
|
0.00001
|
NM_004168.4(SDHA):c.1781G>A (p.Arg594Lys)
|
rs1302547655
|
0.00001
|
NM_004168.4(SDHA):c.1787A>G (p.Asp596Gly)
|
rs1126557
|
0.00001
|
NM_004168.4(SDHA):c.1795-3C>G
|
rs544544409
|
0.00001
|
NM_004168.4(SDHA):c.1798C>T (p.Arg600Trp)
|
rs878854630
|
0.00001
|
NM_004168.4(SDHA):c.1813G>A (p.Asp605Asn)
|
rs771593214
|
0.00001
|
NM_004168.4(SDHA):c.1819T>C (p.Ser607Pro)
|
rs1183122120
|
0.00001
|
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs)
|
rs750865703
|
0.00001
|
NM_004168.4(SDHA):c.1889T>C (p.Val630Ala)
|
rs1392791825
|
0.00001
|
NM_004168.4(SDHA):c.1908+5G>C
|
rs759574062
|
0.00001
|
NM_004168.4(SDHA):c.1908+6T>C
|
rs1359050908
|
0.00001
|
NM_004168.4(SDHA):c.1913C>T (p.Thr638Ile)
|
rs370133236
|
0.00001
|
NM_004168.4(SDHA):c.1915C>G (p.Leu639Val)
|
rs1126697
|
0.00001
|
NM_004168.4(SDHA):c.1928C>G (p.Pro643Arg)
|
rs1060503717
|
0.00001
|
NM_004168.4(SDHA):c.1943C>G (p.Thr648Ser)
|
rs1420345359
|
0.00001
|
NM_004168.4(SDHA):c.1949A>G (p.Asn650Ser)
|
rs1485747007
|
0.00001
|
NM_004168.4(SDHA):c.1960T>G (p.Cys654Gly)
|
rs60587941
|
0.00001
|
NM_004168.4(SDHA):c.1978G>A (p.Ala660Thr)
|
rs1554002911
|
0.00001
|
NM_004168.4(SDHA):c.224G>A (p.Arg75Gln)
|
rs751645963
|
0.00001
|
NM_004168.4(SDHA):c.23C>G (p.Ser8Trp)
|
rs878854631
|
0.00001
|
NM_004168.4(SDHA):c.25C>T (p.Arg9Trp)
|
rs776218604
|
0.00001
|
NM_004168.4(SDHA):c.260C>T (p.Thr87Ile)
|
rs756543943
|
0.00001
|
NM_004168.4(SDHA):c.312+5G>A
|
rs1384659459
|
0.00001
|
NM_004168.4(SDHA):c.313-5T>G
|
rs1060503705
|
0.00001
|
NM_004168.4(SDHA):c.323A>G (p.Asn108Ser)
|
rs758086385
|
0.00001
|
NM_004168.4(SDHA):c.328G>C (p.Ala110Pro)
|
rs786205209
|
0.00001
|
NM_004168.4(SDHA):c.340A>G (p.Met114Val)
|
rs933414586
|
0.00001
|
NM_004168.4(SDHA):c.371A>G (p.Tyr124Cys)
|
rs935241830
|
0.00001
|
NM_004168.4(SDHA):c.373G>A (p.Asp125Asn)
|
rs780654623
|
0.00001
|
NM_004168.4(SDHA):c.379G>A (p.Val127Met)
|
rs777600956
|
0.00001
|
NM_004168.4(SDHA):c.420C>G (p.His140Gln)
|
rs747232441
|
0.00001
|
NM_004168.4(SDHA):c.422A>G (p.Tyr141Cys)
|
rs1377816261
|
0.00001
|
NM_004168.4(SDHA):c.433C>G (p.Gln145Glu)
|
rs765784494
|
0.00001
|
NM_004168.4(SDHA):c.439C>T (p.Pro147Ser)
|
rs1734963793
|
0.00001
|
NM_004168.4(SDHA):c.451G>A (p.Val151Ile)
|
rs143148642
|
0.00001
|
NM_004168.4(SDHA):c.461A>G (p.Glu154Gly)
|
rs777873911
|
0.00001
|
NM_004168.4(SDHA):c.466T>G (p.Tyr156Asp)
|
rs569384870
|
0.00001
|
NM_004168.4(SDHA):c.478T>C (p.Phe160Leu)
|
rs775074528
|
0.00001
|
NM_004168.4(SDHA):c.488C>T (p.Thr163Ile)
|
rs375067326
|
0.00001
|
NM_004168.4(SDHA):c.493G>A (p.Asp165Asn)
|
rs1734989215
|
0.00001
|
NM_004168.4(SDHA):c.499A>C (p.Lys167Gln)
|
rs763578369
|
0.00001
|
NM_004168.4(SDHA):c.511C>T (p.Arg171Cys)
|
rs776193478
|
0.00001
|
NM_004168.4(SDHA):c.530G>C (p.Ser177Thr)
|
rs1553997783
|
0.00001
|
NM_004168.4(SDHA):c.541G>C (p.Gly181Arg)
|
rs1305547879
|
0.00001
|
NM_004168.4(SDHA):c.560A>G (p.His187Arg)
|
rs1236616384
|
0.00001
|
NM_004168.4(SDHA):c.568T>C (p.Cys190Arg)
|
rs908267345
|
0.00001
|
NM_004168.4(SDHA):c.572G>A (p.Cys191Tyr)
|
rs1393298155
|
0.00001
|
NM_004168.4(SDHA):c.584G>A (p.Arg195Gln)
|
rs762956849
|
0.00001
|
NM_004168.4(SDHA):c.595T>A (p.Ser199Thr)
|
rs770407681
|
0.00001
|
NM_004168.4(SDHA):c.596C>T (p.Ser199Leu)
|
rs878854633
|
0.00001
|
NM_004168.4(SDHA):c.629G>A (p.Arg210Gln)
|
rs762108779
|
0.00001
|
NM_004168.4(SDHA):c.632A>G (p.Tyr211Cys)
|
rs1235961098
|
0.00001
|
NM_004168.4(SDHA):c.640A>G (p.Ser214Gly)
|
rs752144637
|
0.00001
|
NM_004168.4(SDHA):c.666G>T (p.Leu222Phe)
|
rs778256616
|
0.00001
|
NM_004168.4(SDHA):c.694C>T (p.Arg232Cys)
|
rs878854635
|
0.00001
|
NM_004168.4(SDHA):c.707C>T (p.Ala236Val)
|
rs1060503703
|
0.00001
|
NM_004168.4(SDHA):c.715A>T (p.Ile239Leu)
|
rs760106352
|
0.00001
|
NM_004168.4(SDHA):c.724G>A (p.Gly242Arg)
|
rs764534044
|
0.00001
|
NM_004168.4(SDHA):c.730A>G (p.Ile244Val)
|
rs1162393515
|
0.00001
|
NM_004168.4(SDHA):c.752A>C (p.Asn251Thr)
|
rs1318566276
|
0.00001
|
NM_004168.4(SDHA):c.753C>G (p.Asn251Lys)
|
rs1126411
|
0.00001
|
NM_004168.4(SDHA):c.766A>G (p.Thr256Ala)
|
rs1409070000
|
0.00001
|
NM_004168.4(SDHA):c.776A>G (p.Tyr259Cys)
|
rs1579397049
|
0.00001
|
NM_004168.4(SDHA):c.781C>T (p.Arg261Cys)
|
rs143484394
|
0.00001
|
NM_004168.4(SDHA):c.782G>A (p.Arg261His)
|
rs769228279
|
0.00001
|
NM_004168.4(SDHA):c.792C>G (p.Phe264Leu)
|
rs1237513803
|
0.00001
|
NM_004168.4(SDHA):c.812C>G (p.Thr271Ser)
|
rs765611464
|
0.00001
|
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile)
|
rs587781720
|
0.00001
|
NM_004168.4(SDHA):c.832G>A (p.Ala278Thr)
|
rs1178613645
|
0.00001
|
NM_004168.4(SDHA):c.835A>G (p.Met279Val)
|
rs755913710
|
0.00001
|
NM_004168.4(SDHA):c.853C>T (p.Leu285Phe)
|
rs747045191
|
0.00001
|
NM_004168.4(SDHA):c.861C>G (p.Cys287Trp)
|
rs140797184
|
0.00001
|
NM_004168.4(SDHA):c.869T>C (p.Leu290Pro)
|
rs1333787672
|
0.00001
|
NM_004168.4(SDHA):c.86G>A (p.Gly29Glu)
|
rs1436200566
|
0.00001
|
NM_004168.4(SDHA):c.889C>T (p.Pro297Ser)
|
rs1224049075
|
0.00001
|
NM_004168.4(SDHA):c.901T>C (p.Tyr301His)
|
rs1060503713
|
0.00001
|
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys)
|
rs182055219
|
0.00001
|
NM_004168.4(SDHA):c.914G>A (p.Cys305Tyr)
|
rs878854638
|
0.00001
|
NM_004168.4(SDHA):c.919A>G (p.Ile307Val)
|
rs200632016
|
0.00001
|
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln)
|
rs752532780
|
0.00001
|
NM_004168.4(SDHA):c.962G>T (p.Ser321Ile)
|
rs751896104
|
0.00001
|
NM_004168.4(SDHA):c.973A>T (p.Arg325Trp)
|
rs1735554095
|
0.00001
|
NM_004168.4(SDHA):c.986G>A (p.Arg329Gln)
|
rs138265892
|
0.00001
|
NM_004168.4(SDHA):c.997G>A (p.Val333Ile)
|
rs1062468
|
0.00001
|
NM_004304.5(ALK):c.1193A>G (p.Asn398Ser)
|
rs754512910
|
0.00001
|
NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn)
|
rs864309584
|
0.00001
|
NM_004304.5(ALK):c.623T>C (p.Ile208Thr)
|
rs372226787
|
0.00001
|
NM_005154.5(USP8):c.2108C>A (p.Pro703His)
|
rs766783893
|
0.00001
|
NM_016169.4(SUFU):c.*1145A>G
|
rs1190732664
|
0.00001
|
NM_016169.4(SUFU):c.*2278C>G
|
rs530131484
|
0.00001
|
NM_016169.4(SUFU):c.*2475C>T
|
rs886046661
|
0.00001
|
NM_016169.4(SUFU):c.*3045A>G
|
rs185874880
|
0.00001
|
NM_016169.4(SUFU):c.*305C>A
|
rs1430494184
|
0.00001
|
NM_016169.4(SUFU):c.*405G>A
|
rs2063829258
|
0.00001
|
NM_016169.4(SUFU):c.1003C>T (p.Leu335Phe)
|
rs757401093
|
0.00001
|
NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp)
|
rs773037813
|
0.00001
|
NM_016169.4(SUFU):c.1016G>A (p.Arg339Gln)
|
rs369910221
|
0.00001
|
NM_016169.4(SUFU):c.1022+6T>C
|
rs1216584462
|
0.00001
|
NM_016169.4(SUFU):c.1022C>T (p.Pro341Leu)
|
rs587778699
|
0.00001
|
NM_016169.4(SUFU):c.1027C>T (p.Arg343Cys)
|
rs751728820
|
0.00001
|
NM_016169.4(SUFU):c.1030A>C (p.Lys344Gln)
|
rs1590082116
|
0.00001
|
NM_016169.4(SUFU):c.1042G>C (p.Glu348Gln)
|
rs1447671524
|
0.00001
|
NM_016169.4(SUFU):c.1055C>A (p.Ser352Tyr)
|
rs1464341550
|
0.00001
|
NM_016169.4(SUFU):c.1073A>G (p.His358Arg)
|
rs1432365875
|
0.00001
|
NM_016169.4(SUFU):c.107C>T (p.Ala36Val)
|
rs566714720
|
0.00001
|
NM_016169.4(SUFU):c.1085G>A (p.Arg362His)
|
rs755390277
|
0.00001
|
NM_016169.4(SUFU):c.1088C>T (p.Thr363Met)
|
rs1554854578
|
0.00001
|
NM_016169.4(SUFU):c.1091G>A (p.Arg364Gln)
|
rs749802616
|
0.00001
|
NM_016169.4(SUFU):c.1150T>A (p.Cys384Ser)
|
rs375419295
|
0.00001
|
NM_016169.4(SUFU):c.1157G>A (p.Arg386Lys)
|
rs767814106
|
0.00001
|
NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp)
|
rs201326378
|
0.00001
|
NM_016169.4(SUFU):c.1217T>C (p.Ile406Thr)
|
rs1554854758
|
0.00001
|
NM_016169.4(SUFU):c.124C>T (p.Arg42Cys)
|
rs2062292519
|
0.00001
|
NM_016169.4(SUFU):c.1309G>A (p.Glu437Lys)
|
rs766370528
|
0.00001
|
NM_016169.4(SUFU):c.1326A>C (p.Lys442Asn)
|
rs1311816626
|
0.00001
|
NM_016169.4(SUFU):c.1329G>A (p.Met443Ile)
|
rs773805575
|
0.00001
|
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg)
|
rs778125780
|
0.00001
|
NM_016169.4(SUFU):c.1388G>A (p.Ser463Asn)
|
rs147404195
|
0.00001
|
NM_016169.4(SUFU):c.13C>T (p.Arg5Trp)
|
rs948353979
|
0.00001
|
NM_016169.4(SUFU):c.1429G>A (p.Val477Met)
|
rs1060501117
|
0.00001
|
NM_016169.4(SUFU):c.146C>T (p.Pro49Leu)
|
rs1479128337
|
0.00001
|
NM_016169.4(SUFU):c.166G>T (p.Ala56Ser)
|
rs200061483
|
0.00001
|
NM_016169.4(SUFU):c.178T>C (p.Tyr60His)
|
rs2062294197
|
0.00001
|
NM_016169.4(SUFU):c.180C>T (p.Tyr60=)
|
rs776945270
|
0.00001
|
NM_016169.4(SUFU):c.183-13T>G
|
rs749913059
|
0.00001
|
NM_016169.4(SUFU):c.217A>C (p.Met73Leu)
|
rs1183694060
|
0.00001
|
NM_016169.4(SUFU):c.256G>A (p.Glu86Lys)
|
rs770989077
|
0.00001
|
NM_016169.4(SUFU):c.26C>A (p.Ala9Asp)
|
rs775491374
|
0.00001
|
NM_016169.4(SUFU):c.26C>T (p.Ala9Val)
|
rs775491374
|
0.00001
|
NM_016169.4(SUFU):c.296A>G (p.Tyr99Cys)
|
rs1464640869
|
0.00001
|
NM_016169.4(SUFU):c.304A>G (p.Asn102Asp)
|
rs1564657066
|
0.00001
|
NM_016169.4(SUFU):c.316G>A (p.Glu106Lys)
|
rs1040654062
|
0.00001
|
NM_016169.4(SUFU):c.318G>T (p.Glu106Asp)
|
rs1188593672
|
0.00001
|
NM_016169.4(SUFU):c.322A>G (p.Thr108Ala)
|
rs1425171528
|
0.00001
|
NM_016169.4(SUFU):c.329C>G (p.Thr110Arg)
|
rs1171604398
|
0.00001
|
NM_016169.4(SUFU):c.368G>A (p.Arg123His)
|
rs745958724
|
0.00001
|
NM_016169.4(SUFU):c.38C>G (p.Thr13Ser)
|
rs768935165
|
0.00001
|
NM_016169.4(SUFU):c.427G>A (p.Gly143Ser)
|
rs1590019047
|
0.00001
|
NM_016169.4(SUFU):c.437G>A (p.Arg146Gln)
|
rs764847917
|
0.00001
|
NM_016169.4(SUFU):c.529A>G (p.Met177Val)
|
rs758672583
|
0.00001
|
NM_016169.4(SUFU):c.53C>G (p.Pro18Arg)
|
rs1489443369
|
0.00001
|
NM_016169.4(SUFU):c.55G>A (p.Gly19Ser)
|
rs1207697890
|
0.00001
|
NM_016169.4(SUFU):c.562G>A (p.Val188Met)
|
rs1462013962
|
0.00001
|
NM_016169.4(SUFU):c.5C>T (p.Ala2Val)
|
rs1589969719
|
0.00001
|
NM_016169.4(SUFU):c.601G>A (p.Val201Ile)
|
rs147695965
|
0.00001
|
NM_016169.4(SUFU):c.602T>C (p.Val201Ala)
|
rs772840788
|
0.00001
|
NM_016169.4(SUFU):c.637C>G (p.Gln213Glu)
|
rs907135467
|
0.00001
|
NM_016169.4(SUFU):c.644A>G (p.Asn215Ser)
|
rs1178631893
|
0.00001
|
NM_016169.4(SUFU):c.64G>C (p.Ala22Pro)
|
rs1564654422
|
0.00001
|
NM_016169.4(SUFU):c.65C>G (p.Ala22Gly)
|
rs761240106
|
0.00001
|
NM_016169.4(SUFU):c.68C>T (p.Pro23Leu)
|
rs2062290972
|
0.00001
|
NM_016169.4(SUFU):c.691G>A (p.Gly231Ser)
|
rs1457485957
|
0.00001
|
NM_016169.4(SUFU):c.728C>A (p.Thr243Asn)
|
rs544734275
|
0.00001
|
NM_016169.4(SUFU):c.742G>A (p.Asp248Asn)
|
rs1283509771
|
0.00001
|
NM_016169.4(SUFU):c.750C>A (p.His250Gln)
|
rs1235137905
|
0.00001
|
NM_016169.4(SUFU):c.756+10G>C
|
rs764838079
|
0.00001
|
NM_016169.4(SUFU):c.778G>A (p.Glu260Lys)
|
rs775245784
|
0.00001
|
NM_016169.4(SUFU):c.811G>T (p.Ala271Ser)
|
rs762258680
|
0.00001
|
NM_016169.4(SUFU):c.827A>G (p.Asp276Gly)
|
rs772598822
|
0.00001
|
NM_016169.4(SUFU):c.838C>T (p.Arg280Trp)
|
rs761003435
|
0.00001
|
NM_016169.4(SUFU):c.842C>T (p.Pro281Leu)
|
rs752387760
|
0.00001
|
NM_016169.4(SUFU):c.845C>A (p.Pro282His)
|
rs2063472026
|
0.00001
|
NM_016169.4(SUFU):c.848A>G (p.Glu283Gly)
|
rs763598499
|
0.00001
|
NM_016169.4(SUFU):c.856G>A (p.Glu286Lys)
|
rs564728455
|
0.00001
|
NM_016169.4(SUFU):c.872T>C (p.Ile291Thr)
|
rs587778698
|
0.00001
|
NM_016169.4(SUFU):c.904G>A (p.Gly302Ser)
|
rs1164574977
|
0.00001
|
NM_016169.4(SUFU):c.943G>A (p.Gly315Arg)
|
rs141737156
|
0.00001
|
NM_016169.4(SUFU):c.957C>G (p.Asn319Lys)
|
rs535845342
|
0.00001
|
NM_016169.4(SUFU):c.967G>A (p.Val323Ile)
|
rs1420089970
|
0.00001
|
NM_016169.4(SUFU):c.979A>G (p.Ile327Val)
|
rs752846043
|
0.00001
|
NM_016169.4(SUFU):c.98G>C (p.Gly33Ala)
|
rs1391787041
|
0.00001
|
NM_016169.4(SUFU):c.994C>G (p.Gln332Glu)
|
rs747125633
|
0.00001
|
NM_017841.4(SDHAF2):c.11C>G (p.Ser4Cys)
|
rs778449586
|
0.00001
|
NM_017841.4(SDHAF2):c.341A>G (p.Asn114Ser)
|
rs747022200
|
0.00001
|
NM_017841.4(SDHAF2):c.352A>G (p.Ile118Val)
|
rs747994812
|
0.00001
|
NM_017841.4(SDHAF2):c.410T>A (p.Met137Lys)
|
rs367574730
|
0.00001
|
NM_017841.4(SDHAF2):c.454A>G (p.Arg152Gly)
|
rs1056273933
|
0.00001
|
NM_017841.4(SDHAF2):c.497G>A (p.Arg166His)
|
rs768048172
|
0.00001
|
NM_017841.4(SDHAF2):c.96A>T (p.Arg32Ser)
|
rs952830677
|
0.00001
|
NM_022124.6(CDH23):c.1305G>C (p.Glu435Asp)
|
rs770510708
|
0.00001
|
NM_022124.6(CDH23):c.1339A>G (p.Lys447Glu)
|
rs767345324
|
0.00001
|
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln)
|
rs376414013
|
0.00001
|
NM_022124.6(CDH23):c.1874G>A (p.Arg625His)
|
rs200907423
|
0.00001
|
NM_022124.6(CDH23):c.1886A>T (p.Tyr629Phe)
|
rs1297047638
|
0.00001
|
NM_022124.6(CDH23):c.2122T>G (p.Ser708Ala)
|
rs764332602
|
0.00001
|
NM_022124.6(CDH23):c.2189C>T (p.Thr730Ile)
|
rs755812129
|
0.00001
|
NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser)
|
rs560251790
|
0.00001
|
NM_022124.6(CDH23):c.2870G>A (p.Arg957His)
|
rs748047907
|
0.00001
|
NM_022124.6(CDH23):c.3593T>C (p.Val1198Ala)
|
rs759990271
|
0.00001
|
NM_022124.6(CDH23):c.5852A>T (p.Asp1951Val)
|
rs1299758893
|
0.00001
|
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser)
|
rs555432123
|
0.00001
|
NM_022124.6(CDH23):c.6323T>C (p.Ile2108Thr)
|
rs1198525214
|
0.00001
|
NM_022124.6(CDH23):c.6829+3A>G
|
rs780258798
|
0.00001
|
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln)
|
rs759439688
|
0.00001
|
NM_022124.6(CDH23):c.8957T>C (p.Ile2986Thr)
|
rs753997469
|
0.00001
|
NM_032221.5(CHD6):c.3296G>A (p.Arg1099Gln)
|
rs1465002801
|
0.00001
|
NM_080425.4(GNAS):c.1200C>A (p.Ala400=)
|
rs908810796
|
0.00001
|
NM_080425.4(GNAS):c.1323C>T (p.Pro441=)
|
rs146744182
|
0.00001
|
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp)
|
rs746548577
|
0.00001
|
NC_000001.10:g.(?_130980840)_(248900000_?)dup
|
|
|
NC_000001.10:g.(?_160786670)_(161332233_?)dup
|
|
|
NC_000001.10:g.(?_161284158)_(161284225_?)dup
|
|
|
NC_000001.10:g.(?_161284186)_(161332233_?)dup
|
|
|
NC_000001.10:g.(?_161284190)_(161332229_?)dup
|
|
|
NC_000001.10:g.(?_161293394)_(161332233_?)dup
|
|
|
NC_000001.10:g.(?_161293398)_(161332229_?)dup
|
|
|
NC_000001.10:g.(?_161298176)_(161332308_?)dup
|
|
|
NC_000001.10:g.(?_161310374)_(161332233_?)dup
|
|
|
NC_000001.10:g.(?_161310378)_(161332229_?)dup
|
|
|
NC_000001.10:g.(?_161326461)_(161332229_?)dup
|
|
|
NC_000001.10:g.(?_161332109)_(161332308_?)dup
|
|
|
NC_000001.10:g.(?_17345217)_(17380665_?)dup
|
|
|
NC_000001.10:g.(?_17345366)_(17380524_?)dup
|
|
|
NC_000001.10:g.(?_17345370)_(17355237_?)dup
|
|
|
NC_000001.10:g.(?_17345376)_(17355241_?)dup
|
|
|
NC_000001.10:g.(?_17345376)_(17371393_?)dup
|
|
|
NC_000001.10:g.(?_17354234)_(17354370_?)del
|
|
|
NC_000001.10:g.(?_17359545)_(17380524_?)dup
|
|
|
NC_000001.10:g.(?_17371246)_(17380524_?)dup
|
|
|
NC_000001.11:g.(?_160816880)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_161314368)_(161328507_?)dup
|
|
|
NC_000001.11:g.(?_161314368)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_161314396)_(161340665_?)dup
|
|
|
NC_000001.11:g.(?_161323604)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_161323614)_(161323670_?)del
|
|
|
NC_000001.11:g.(?_161340584)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_161356667)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_17018722)_(17018958_?)del
|
|
|
NC_000001.11:g.(?_17018881)_(17018968_?)dup
|
|
|
NC_000001.11:g.(?_17018881)_(17054019_?)dup
|
|
|
NC_000010.10:g.(?_104262628)_(104309873_?)dup
|
|
|
NC_000010.10:g.(?_104262628)_(104595248_?)dup
|
|
|
NC_000010.10:g.(?_104375015)_(104389912_?)del
|
|
|
NC_000011.10:g.(?_112086823)_(112086969_?)dup
|
|
|
NC_000011.10:g.(?_112086823)_(112094970_?)dup
|
|
|
NC_000011.10:g.(?_112087802)_(112094970_?)dup
|
|
|
NC_000011.9:g.(?_111171709)_(111965694_?)dup
|
|
|
NC_000011.9:g.(?_111957622)_(111965704_?)dup
|
|
|
NC_000017.10:g.(?_38785027)_(38804103_?)dup
|
|
|
NC_000017.10:g.(?_38798697)_(38804103_?)dup
|
|
|
NC_000017.11:g.(?_40628785)_(40647851_?)dup
|
|
|
NC_000019.10:g.(?_10984142)_(11061826_?)dup
|
|
|
NC_000019.10:g.(?_10986179)_(11061826_?)dup
|
|
|
NC_000019.10:g.(?_11007892)_(11061826_?)dup
|
|
|
NC_000019.10:g.(?_11039458)_(11039553_?)del
|
|
|
NC_000019.10:g.(?_11041297)_(11061826_?)del
|
|
|
NC_000019.9:g.(?_11094818)_(11107066_?)dup
|
|
|
NC_000019.9:g.(?_11094828)_(11100129_?)dup
|
|
|
NC_000019.9:g.(?_11094828)_(11135124_?)dup
|
|
|
NC_000019.9:g.(?_11094828)_(11137032_?)dup
|
|
|
NC_000019.9:g.(?_11094828)_(11152246_?)dup
|
|
|
NC_000019.9:g.(?_11105494)_(11172492_?)dup
|
|
|
NC_000019.9:g.(?_11106879)_(11107230_?)del
|
|
|
NC_000019.9:g.(?_11106879)_(11172492_?)dup
|
|
|
NC_000019.9:g.(?_11106879)_(11172502_?)dup
|
|
|
NC_000019.9:g.(?_11113695)_(11172492_?)dup
|
|
|
NC_000019.9:g.(?_11118568)_(11172492_?)dup
|
|
|
NC_000019.9:g.(?_11121047)_(11172492_?)dup
|
|
|
NC_000019.9:g.(?_11129613)_(11172492_?)dup
|
|
|
NC_000019.9:g.(?_11134174)_(11144896_?)dup
|
|
|
NC_000019.9:g.(?_11136088)_(11172492_?)dup
|
|
|
NC_000019.9:g.(?_11168921)_(11172492_?)del
|
|
|
NC_000019.9:g.(?_11168925)_(11172498_?)dup
|
|
|
NC_000019.9:g.(?_11172454)_(11172498_?)dup
|
|
|
NM_000051.4(ATM):c.611G>T (p.Gly204Val)
|
rs1555066451
|
|
NM_000059.3(BRCA2):c.9503_9506delinsTAAG (p.Asn3168_Ile3169delinsIleSer)
|
rs1566260060
|
|
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg)
|
rs587782016
|
|
NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn)
|
rs431825280
|
|
NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile)
|
rs547590567
|
|
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys)
|
rs398122725
|
|
NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys)
|
rs431825282
|
|
NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser)
|
rs1249900164
|
|
NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu)
|
rs1555282154
|
|
NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu)
|
rs397507282
|
|
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)
|
rs80358495
|
|
NM_000059.4(BRCA2):c.2249A>T (p.Asp750Val)
|
rs1555282574
|
|
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser)
|
rs876661089
|
|
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg)
|
rs80358512
|
|
NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser)
|
rs80358526
|
|
NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val)
|
rs1566227648
|
|
NM_000059.4(BRCA2):c.3808G>A (p.Val1270Ile)
|
rs876658938
|
|
NM_000059.4(BRCA2):c.4310G>C (p.Ser1437Thr)
|
rs1403318277
|
|
NM_000059.4(BRCA2):c.4396T>A (p.Leu1466Ile)
|
rs1555283763
|
|
NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg)
|
rs397507336
|
|
NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala)
|
rs876659201
|
|
NM_000059.4(BRCA2):c.5229_5231del (p.Ser1744del)
|
rs397507349
|
|
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg)
|
rs431825334
|
|
NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser)
|
rs80358833
|
|
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile)
|
rs80358854
|
|
NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr)
|
rs1060502462
|
|
NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys)
|
rs587782174
|
|
NM_000059.4(BRCA2):c.6826C>A (p.Pro2276Thr)
|
rs80358907
|
|
NM_000059.4(BRCA2):c.7163C>T (p.Thr2388Ile)
|
rs1555286026
|
|
NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del)
|
rs876659222
|
|
NM_000059.4(BRCA2):c.7563C>A (p.Ile2521=)
|
rs786204282
|
|
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)
|
rs80358989
|
|
NM_000059.4(BRCA2):c.7693G>A (p.Glu2565Lys)
|
rs764761862
|
|
NM_000059.4(BRCA2):c.7781A>G (p.Lys2594Arg)
|
rs876660874
|
|
NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met)
|
rs1466452770
|
|
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met)
|
rs80359800
|
|
NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser)
|
rs143999963
|
|
NM_000059.4(BRCA2):c.8817G>C (p.Lys2939Asn)
|
rs397507414
|
|
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2])
|
rs786202063
|
|
NM_000059.4(BRCA2):c.9071A>C (p.Asn3024Thr)
|
rs587781493
|
|
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup)
|
rs80359749
|
|
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)
|
rs80359186
|
|
NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe)
|
rs80359195
|
|
NM_000059.4(BRCA2):c.9295A>G (p.Asn3099Asp)
|
rs1555289516
|
|
NM_000135.4(FANCA):c.1081A>G (p.Arg361Gly)
|
|
|
NM_000135.4(FANCA):c.3659C>T (p.Pro1220Leu)
|
|
|
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu)
|
rs143494325
|
|
NM_000268.4(NF2):c.1000A>G (p.Met334Val)
|
rs1556000094
|
|
NM_000268.4(NF2):c.114+4A>G
|
rs1207246677
|
|
NM_000268.4(NF2):c.1142C>T (p.Ala381Val)
|
|
|
NM_000268.4(NF2):c.1237A>G (p.Lys413Glu)
|
rs766974263
|
|
NM_000268.4(NF2):c.1243A>G (p.Thr415Ala)
|
rs776970251
|
|
NM_000268.4(NF2):c.1271G>C (p.Arg424Pro)
|
|
|
NM_000268.4(NF2):c.1341G>T (p.Arg447Ser)
|
|
|
NM_000268.4(NF2):c.1547G>A (p.Arg516Gln)
|
rs1569309694
|
|
NM_000268.4(NF2):c.1575-24T>A
|
|
|
NM_000268.4(NF2):c.1593G>C (p.Lys531Asn)
|
|
|
NM_000268.4(NF2):c.1615C>G (p.Leu539Val)
|
|
|
NM_000268.4(NF2):c.1667C>T (p.Thr556Ile)
|
|
|
NM_000268.4(NF2):c.202A>G (p.Ile68Val)
|
|
|
NM_000268.4(NF2):c.215T>C (p.Val72Ala)
|
rs1260510937
|
|
NM_000268.4(NF2):c.263A>G (p.Lys88Arg)
|
rs547255779
|
|
NM_000268.4(NF2):c.345A>T (p.Gln115His)
|
rs746369012
|
|
NM_000268.4(NF2):c.35G>C (p.Ser12Thr)
|
|
|
NM_000268.4(NF2):c.391A>C (p.Ile131Leu)
|
rs878853927
|
|
NM_000268.4(NF2):c.447+166T>G
|
|
|
NM_000268.4(NF2):c.463C>G (p.Pro155Ala)
|
rs2066246942
|
|
NM_000268.4(NF2):c.475_476inv (p.Lys159Leu)
|
|
|
NM_000268.4(NF2):c.4G>T (p.Ala2Ser)
|
rs1601515682
|
|
NM_000268.4(NF2):c.558G>C (p.Glu186Asp)
|
rs1325902176
|
|
NM_000268.4(NF2):c.593G>A (p.Arg198Gln)
|
rs2146973900
|
|
NM_000268.4(NF2):c.670A>G (p.Ile224Val)
|
rs1555994825
|
|
NM_000268.4(NF2):c.675+172G>T
|
|
|
NM_000268.4(NF2):c.675+182A>G
|
|
|
NM_000268.4(NF2):c.74G>A (p.Arg25Lys)
|
rs1569259813
|
|
NM_000268.4(NF2):c.7G>C (p.Gly3Arg)
|
|
|
NM_000314.6(PTEN):c.-868G>C
|
rs587782133
|
|
NM_000314.8(PTEN):c.-752G>A
|
rs1256922808
|
|
NM_000314.8(PTEN):c.-752GGC[4]
|
rs933847861
|
|
NM_000314.8(PTEN):c.-822G>T
|
rs587779993
|
|
NM_000314.8(PTEN):c.1189C>T (p.His397Tyr)
|
rs1589669413
|
|
NM_000314.8(PTEN):c.166T>A (p.Phe56Ile)
|
rs1589640376
|
|
NM_000314.8(PTEN):c.488A>G (p.Lys163Arg)
|
rs786202753
|
|
NM_000314.8(PTEN):c.593T>C (p.Met198Thr)
|
rs1554900635
|
|
NM_000314.8(PTEN):c.734A>C (p.Gln245Pro)
|
rs1057518538
|
|
NM_000314.8(PTEN):c.862G>A (p.Glu288Lys)
|
rs1554825528
|
|
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn)
|
rs587780007
|
|
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys)
|
rs1064794436
|
|
NM_000489.6(ATRX):c.4213A>G (p.Arg1405Gly)
|
rs1569535987
|
|
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg)
|
rs1394557997
|
|
NM_000535.7(PMS2):c.2534A>G (p.His845Arg)
|
rs1554292741
|
|
NM_000546.6(TP53):c.677G>C (p.Gly226Ala)
|
rs970212462
|
|
NM_001042492.3(NF1):c.1888G>A (p.Val630Ile)
|
rs751795238
|
|
NM_001126049.2(KLLN):c.-736G>C
|
rs1554889801
|
|
NM_001126049.2(KLLN):c.-828C>T
|
rs786203674
|
|
NM_001128849.1(SMARCA4):c.1524_1525inv (p.Ala509Thr)
|
|
|
NM_001128849.1(SMARCA4):c.2010_2012delGGA
|
rs759896283
|
|
NM_001146079.2(CLDN14):c.116_118del (p.Asn39del)
|
|
|
NM_001300860.2(DDX46):c.2819A>G (p.Asn940Ser)
|
rs2150159210
|
|
NM_001321818.2(RAD51B):c.1037-71695GT[3]
|
rs1410470158
|
|
NM_001370100.5(ZMYND11):c.117-4238T>A
|
rs1057517548
|
|
NM_001374353.1(GLI2):c.3784C>T (p.His1262Tyr)
|
rs794727100
|
|
NM_001375883.1(GPR161):c.1231T>C (p.Tyr411His)
|
|
|
NM_001375883.1(GPR161):c.1235C>T (p.Thr412Met)
|
|
|
NM_001375883.1(GPR161):c.1445A>C (p.Glu482Ala)
|
|
|
NM_001375883.1(GPR161):c.1502del (p.Gly501fs)
|
rs766670512
|
|
NM_001375883.1(GPR161):c.505G>A (p.Val169Met)
|
|
|
NM_001375883.1(GPR161):c.682G>T (p.Val228Phe)
|
|
|
NM_001375883.1(GPR161):c.713G>C (p.Gly238Ala)
|
|
|
NM_001387283.1(SMARCA4):c.4172A>G (p.Lys1391Arg)
|
rs2146775051
|
|
NM_001387283.1(SMARCA4):c.4177A>G (p.Thr1393Ala)
|
rs1600445175
|
|
NM_001387283.1(SMARCA4):c.4180G>C (p.Gly1394Arg)
|
|
|
NM_001387283.1(SMARCA4):c.4180_4181delinsC (p.Gly1394fs)
|
rs1555787120
|
|
NM_001387283.1(SMARCA4):c.4182A>T (p.Gly1394=)
|
|
|
NM_001387283.1(SMARCA4):c.4183A>G (p.Lys1395Glu)
|
rs2146775283
|
|
NM_001387283.1(SMARCA4):c.4186G>T (p.Asp1396Tyr)
|
rs1555787123
|
|
NM_001387283.1(SMARCA4):c.4189_4190del (p.Ile1397fs)
|
|
|
NM_001387283.1(SMARCA4):c.4190T>C (p.Ile1397Thr)
|
rs534766933
|
|
NM_001387283.1(SMARCA4):c.4192C>T (p.His1398Tyr)
|
|
|
NM_001387283.1(SMARCA4):c.4196A>G (p.Asp1399Gly)
|
|
|
NM_001387283.1(SMARCA4):c.4201G>A (p.Ala1401Thr)
|
|
|
NM_001387283.1(SMARCA4):c.4208G>A (p.Ser1403Asn)
|
|
|
NM_001387283.1(SMARCA4):c.4208del (p.Ser1403fs)
|
rs1060502088
|
|
NM_001387283.1(SMARCA4):c.4210G>A (p.Val1404Met)
|
|
|
NM_001387283.1(SMARCA4):c.4219G>A (p.Gly1407Arg)
|
|
|
NM_001387283.1(SMARCA4):c.4219G>T (p.Gly1407Trp)
|
rs751103947
|
|
NM_001387283.1(SMARCA4):c.4223T>C (p.Leu1408Pro)
|
rs2146776508
|
|
NM_001387283.1(SMARCA4):c.4228T>A (p.Phe1410Ile)
|
|
|
NM_001387283.1(SMARCA4):c.4232A>G (p.Gln1411Arg)
|
|
|
NM_001387283.1(SMARCA4):c.4233G>C (p.Gln1411His)
|
rs780721689
|
|
NM_001387283.1(SMARCA4):c.4237G>A (p.Gly1413Ser)
|
|
|
NM_001387283.1(SMARCA4):c.4240C>G (p.Leu1414Val)
|
rs746165832
|
|
NM_001387283.1(SMARCA4):c.4243C>T (p.Gln1415Ter)
|
rs2075456626
|
|
NM_001387283.1(SMARCA4):c.4244A>G (p.Gln1415Arg)
|
rs1427210237
|
|
NM_001387283.1(SMARCA4):c.4245G>C (p.Gln1415His)
|
rs1600446366
|
|
NM_001387283.1(SMARCA4):c.4246T>C (p.Phe1416Leu)
|
rs1600446408
|
|
NM_001387283.1(SMARCA4):c.4250G>A (p.Cys1417Tyr)
|
rs772645133
|
|
NM_001387283.1(SMARCA4):c.4253C>T (p.Thr1418Ile)
|
rs1060502100
|
|
NM_001387283.1(SMARCA4):c.4255C>T (p.Arg1419Cys)
|
rs1056234449
|
|
NM_001387283.1(SMARCA4):c.4256del (p.Arg1419fs)
|
rs2146777667
|
|
NM_001387283.1(SMARCA4):c.4258G>A (p.Ala1420Thr)
|
|
|
NM_001387283.1(SMARCA4):c.4258G>C (p.Ala1420Pro)
|
|
|
NM_001387283.1(SMARCA4):c.4259C>G (p.Ala1420Gly)
|
rs200525458
|
|
NM_001387283.1(SMARCA4):c.4259C>T (p.Ala1420Val)
|
rs200525458
|
|
NM_001387283.1(SMARCA4):c.4261T>A (p.Ser1421Thr)
|
rs776681345
|
|
NM_001387283.1(SMARCA4):c.4261T>C (p.Ser1421Pro)
|
rs776681345
|
|
NM_001387283.1(SMARCA4):c.4265A>C (p.Lys1422Thr)
|
rs1060502061
|
|
NM_001387283.1(SMARCA4):c.4265A>G (p.Lys1422Arg)
|
rs1060502061
|
|
NM_001387283.1(SMARCA4):c.4266+1G>C
|
rs1060502086
|
|
NM_001387283.1(SMARCA4):c.4266+1G>T
|
rs1060502086
|
|
NM_001387283.1(SMARCA4):c.4266+1del
|
rs2075460114
|
|
NM_001387283.1(SMARCA4):c.4266+2T>A
|
|
|
NM_001387283.1(SMARCA4):c.4266+2_4266+3del
|
rs1568523387
|
|
NM_001904.4(CTNNB1):c.1571A>G (p.His524Arg)
|
rs1376864427
|
|
NM_001933.5(DLST):c.911A>G (p.Asp304Gly)
|
|
|
NM_003000.2(SDHB):c.73-?_*159+?dup
|
|
|
NM_003000.3(SDHB):c.101C>A (p.Ala34Asp)
|
rs867908217
|
|
NM_003000.3(SDHB):c.101C>G (p.Ala34Gly)
|
rs867908217
|
|
NM_003000.3(SDHB):c.106G>T (p.Ala36Ser)
|
rs1204932232
|
|
NM_003000.3(SDHB):c.106_107delinsAT (p.Ala36Ile)
|
rs2078100640
|
|
NM_003000.3(SDHB):c.108_109delinsAA (p.Pro37Thr)
|
rs2101541552
|
|
NM_003000.3(SDHB):c.109C>G (p.Pro37Ala)
|
rs761180960
|
|
NM_003000.3(SDHB):c.109C>T (p.Pro37Ser)
|
rs761180960
|
|
NM_003000.3(SDHB):c.10G>A (p.Val4Met)
|
rs2101551949
|
|
NM_003000.3(SDHB):c.113G>C (p.Arg38Pro)
|
rs143058777
|
|
NM_003000.3(SDHB):c.115A>G (p.Ile39Val)
|
|
|
NM_003000.3(SDHB):c.120_122del (p.Lys41del)
|
|
|
NM_003000.3(SDHB):c.124T>C (p.Phe42Leu)
|
|
|
NM_003000.3(SDHB):c.125T>C (p.Phe42Ser)
|
|
|
NM_003000.3(SDHB):c.126T>G (p.Phe42Leu)
|
rs2101541516
|
|
NM_003000.3(SDHB):c.127G>A (p.Ala43Thr)
|
|
|
NM_003000.3(SDHB):c.127G>T (p.Ala43Ser)
|
rs2078100395
|
|
NM_003000.3(SDHB):c.128C>T (p.Ala43Val)
|
|
|
NM_003000.3(SDHB):c.134A>G (p.Tyr45Cys)
|
|
|
NM_003000.3(SDHB):c.136C>A (p.Arg46=)
|
rs74315370
|
|
NM_003000.3(SDHB):c.13G>C (p.Val5Leu)
|
rs962717797
|
|
NM_003000.3(SDHB):c.13G>T (p.Val5Phe)
|
rs962717797
|
|
NM_003000.3(SDHB):c.142G>A (p.Asp48Asn)
|
rs2078100198
|
|
NM_003000.3(SDHB):c.145C>T (p.Pro49Ser)
|
|
|
NM_003000.3(SDHB):c.146C>A (p.Pro49Gln)
|
|
|
NM_003000.3(SDHB):c.146C>T (p.Pro49Leu)
|
rs2078100131
|
|
NM_003000.3(SDHB):c.148G>A (p.Asp50Asn)
|
rs1060503765
|
|
NM_003000.3(SDHB):c.148G>C (p.Asp50His)
|
rs1060503765
|
|
NM_003000.3(SDHB):c.148G>T (p.Asp50Tyr)
|
|
|
NM_003000.3(SDHB):c.14T>C (p.Val5Ala)
|
rs760565241
|
|
NM_003000.3(SDHB):c.150C>A (p.Asp50Glu)
|
rs1570958024
|
|
NM_003000.3(SDHB):c.150C>G (p.Asp50Glu)
|
rs1570958024
|
|
NM_003000.3(SDHB):c.152A>C (p.Lys51Thr)
|
rs2101541430
|
|
NM_003000.3(SDHB):c.154G>T (p.Ala52Ser)
|
|
|
NM_003000.3(SDHB):c.155C>A (p.Ala52Asp)
|
rs878854573
|
|
NM_003000.3(SDHB):c.160G>A (p.Asp54Asn)
|
rs1570957997
|
|
NM_003000.3(SDHB):c.161A>T (p.Asp54Val)
|
rs1553178735
|
|
NM_003000.3(SDHB):c.16G>C (p.Ala6Pro)
|
|
|
NM_003000.3(SDHB):c.16G>T (p.Ala6Ser)
|
rs1472284221
|
|
NM_003000.3(SDHB):c.174G>A (p.Met58Ile)
|
|
|
NM_003000.3(SDHB):c.176A>C (p.Gln59Pro)
|
rs2101541371
|
|
NM_003000.3(SDHB):c.177G>C (p.Gln59His)
|
rs1277374324
|
|
NM_003000.3(SDHB):c.177G>T (p.Gln59His)
|
|
|
NM_003000.3(SDHB):c.179C>T (p.Thr60Ile)
|
rs1210793630
|
|
NM_003000.3(SDHB):c.17_18delinsTA (p.Ala6Val)
|
|
|
NM_003000.3(SDHB):c.182A>C (p.Tyr61Ser)
|
|
|
NM_003000.3(SDHB):c.182A>G (p.Tyr61Cys)
|
rs768171765
|
|
NM_003000.3(SDHB):c.184G>A (p.Glu62Lys)
|
rs1231783823
|
|
NM_003000.3(SDHB):c.186A>T (p.Glu62Asp)
|
|
|
NM_003000.3(SDHB):c.187G>A (p.Val63Ile)
|
rs2078099260
|
|
NM_003000.3(SDHB):c.188T>A (p.Val63Asp)
|
|
|
NM_003000.3(SDHB):c.188T>C (p.Val63Ala)
|
rs1230335211
|
|
NM_003000.3(SDHB):c.18_19delinsAG (p.Leu7Val)
|
rs2078164049
|
|
NM_003000.3(SDHB):c.18_19delinsAT (p.Leu7Phe)
|
rs2078164049
|
|
NM_003000.3(SDHB):c.18_47del (p.Leu7_Thr16del)
|
|
|
NM_003000.3(SDHB):c.191A>G (p.Asp64Gly)
|
rs200131173
|
|
NM_003000.3(SDHB):c.192C>A (p.Asp64Glu)
|
rs1570957920
|
|
NM_003000.3(SDHB):c.193C>G (p.Leu65Val)
|
rs786202185
|
|
NM_003000.3(SDHB):c.193C>T (p.Leu65Phe)
|
rs786202185
|
|
NM_003000.3(SDHB):c.200+3_200+6del
|
rs2101541290
|
|
NM_003000.3(SDHB):c.200+4A>G
|
rs774908929
|
|
NM_003000.3(SDHB):c.201-10T>A
|
rs761461907
|
|
NM_003000.3(SDHB):c.201A>G (p.Lys67=)
|
rs1436421650
|
|
NM_003000.3(SDHB):c.202T>C (p.Cys68Arg)
|
rs2101529119
|
|
NM_003000.3(SDHB):c.208C>G (p.Pro70Ala)
|
rs200890320
|
|
NM_003000.3(SDHB):c.208C>T (p.Pro70Ser)
|
rs200890320
|
|
NM_003000.3(SDHB):c.20T>A (p.Leu7His)
|
rs778776844
|
|
NM_003000.3(SDHB):c.20T>C (p.Leu7Pro)
|
|
|
NM_003000.3(SDHB):c.211A>G (p.Met71Val)
|
rs1557742895
|
|
NM_003000.3(SDHB):c.212T>C (p.Met71Thr)
|
|
|
NM_003000.3(SDHB):c.213G>A (p.Met71Ile)
|
|
|
NM_003000.3(SDHB):c.219G>C (p.Leu73Phe)
|
|
|
NM_003000.3(SDHB):c.220G>A (p.Asp74Asn)
|
rs1570951468
|
|
NM_003000.3(SDHB):c.223G>T (p.Ala75Ser)
|
rs2101529057
|
|
NM_003000.3(SDHB):c.229A>G (p.Ile77Val)
|
rs1553178046
|
|
NM_003000.3(SDHB):c.231C>G (p.Ile77Met)
|
rs1570951427
|
|
NM_003000.3(SDHB):c.232A>G (p.Lys78Glu)
|
rs2101529019
|
|
NM_003000.3(SDHB):c.233A>G (p.Lys78Arg)
|
rs774960237
|
|
NM_003000.3(SDHB):c.233A>T (p.Lys78Met)
|
|
|
NM_003000.3(SDHB):c.234G>C (p.Lys78Asn)
|
|
|
NM_003000.3(SDHB):c.234G>T (p.Lys78Asn)
|
rs776971836
|
|
NM_003000.3(SDHB):c.235A>T (p.Ile79Phe)
|
rs771524558
|
|
NM_003000.3(SDHB):c.236T>C (p.Ile79Thr)
|
|
|
NM_003000.3(SDHB):c.237T>G (p.Ile79Met)
|
rs2078032308
|
|
NM_003000.3(SDHB):c.238A>G (p.Lys80Glu)
|
rs1131691051
|
|
NM_003000.3(SDHB):c.239A>G (p.Lys80Arg)
|
|
|
NM_003000.3(SDHB):c.23C>A (p.Ser8Tyr)
|
rs199848267
|
|
NM_003000.3(SDHB):c.23C>T (p.Ser8Phe)
|
rs199848267
|
|
NM_003000.3(SDHB):c.240G>C (p.Lys80Asn)
|
rs2101528987
|
|
NM_003000.3(SDHB):c.241A>T (p.Asn81Tyr)
|
rs1315623287
|
|
NM_003000.3(SDHB):c.244G>A (p.Glu82Lys)
|
|
|
NM_003000.3(SDHB):c.245A>C (p.Glu82Ala)
|
|
|
NM_003000.3(SDHB):c.248T>C (p.Val83Ala)
|
rs763547482
|
|
NM_003000.3(SDHB):c.248T>G (p.Val83Gly)
|
rs763547482
|
|
NM_003000.3(SDHB):c.250G>A (p.Asp84Asn)
|
rs2078032193
|
|
NM_003000.3(SDHB):c.252C>A (p.Asp84Glu)
|
rs1427902008
|
|
NM_003000.3(SDHB):c.256A>G (p.Thr86Ala)
|
rs1570951385
|
|
NM_003000.3(SDHB):c.256A>T (p.Thr86Ser)
|
rs1570951385
|
|
NM_003000.3(SDHB):c.259T>G (p.Leu87Val)
|
|
|
NM_003000.3(SDHB):c.25T>A (p.Leu9Met)
|
|
|
NM_003000.3(SDHB):c.25T>G (p.Leu9Val)
|
rs1060503768
|
|
NM_003000.3(SDHB):c.263C>G (p.Thr88Ser)
|
rs915794675
|
|
NM_003000.3(SDHB):c.263C>T (p.Thr88Ile)
|
rs915794675
|
|
NM_003000.3(SDHB):c.267C>G (p.Phe89Leu)
|
rs1553178042
|
|
NM_003000.3(SDHB):c.268C>G (p.Arg90Gly)
|
rs74315366
|
|
NM_003000.3(SDHB):c.272G>A (p.Arg91Lys)
|
rs2078031940
|
|
NM_003000.3(SDHB):c.272G>C (p.Arg91Thr)
|
|
|
NM_003000.3(SDHB):c.273A>C (p.Arg91Ser)
|
|
|
NM_003000.3(SDHB):c.274T>A (p.Ser92Thr)
|
|
|
NM_003000.3(SDHB):c.27G>C (p.Leu9Phe)
|
rs2101551820
|
|
NM_003000.3(SDHB):c.280A>G (p.Arg94Gly)
|
rs2078031878
|
|
NM_003000.3(SDHB):c.281G>T (p.Arg94Ile)
|
|
|
NM_003000.3(SDHB):c.282A>C (p.Arg94Ser)
|
rs2101528849
|
|
NM_003000.3(SDHB):c.283G>C (p.Glu95Gln)
|
|
|
NM_003000.3(SDHB):c.286+3G>A
|
rs2078031816
|
|
NM_003000.3(SDHB):c.286+5G>A
|
rs768966871
|
|
NM_003000.3(SDHB):c.286+5G>C
|
rs768966871
|
|
NM_003000.3(SDHB):c.286G>C (p.Gly96Arg)
|
|
|
NM_003000.3(SDHB):c.287-18A>G
|
|
|
NM_003000.3(SDHB):c.287G>T (p.Gly96Val)
|
rs778952116
|
|
NM_003000.3(SDHB):c.28A>G (p.Arg10Gly)
|
|
|
NM_003000.3(SDHB):c.295G>A (p.Gly99Ser)
|
|
|
NM_003000.3(SDHB):c.299C>T (p.Ser100Phe)
|
rs121917755
|
|
NM_003000.3(SDHB):c.29G>A (p.Arg10Lys)
|
rs1570963545
|
|
NM_003000.3(SDHB):c.302G>C (p.Cys101Ser)
|
rs74315371
|
|
NM_003000.3(SDHB):c.308T>C (p.Met103Thr)
|
rs1553177765
|
|
NM_003000.3(SDHB):c.309G>A (p.Met103Ile)
|
rs1570948679
|
|
NM_003000.3(SDHB):c.30G>T (p.Arg10Ser)
|
rs1024111417
|
|
NM_003000.3(SDHB):c.313A>G (p.Ile105Val)
|
rs1356656612
|
|
NM_003000.3(SDHB):c.313A>T (p.Ile105Phe)
|
|
|
NM_003000.3(SDHB):c.315C>G (p.Ile105Met)
|
|
|
NM_003000.3(SDHB):c.316A>G (p.Asn106Asp)
|
rs1557741510
|
|
NM_003000.3(SDHB):c.320G>A (p.Gly107Glu)
|
|
|
NM_003000.3(SDHB):c.326A>G (p.Asn109Ser)
|
rs1570948643
|
|
NM_003000.3(SDHB):c.328A>T (p.Thr110Ser)
|
rs1407350591
|
|
NM_003000.3(SDHB):c.32G>C (p.Arg11Pro)
|
|
|
NM_003000.3(SDHB):c.331C>G (p.Leu111Val)
|
rs2078005090
|
|
NM_003000.3(SDHB):c.332T>C (p.Leu111Pro)
|
rs1570948631
|
|
NM_003000.3(SDHB):c.335C>G (p.Ala112Gly)
|
rs1553177762
|
|
NM_003000.3(SDHB):c.335C>T (p.Ala112Val)
|
|
|
NM_003000.3(SDHB):c.337T>G (p.Cys113Gly)
|
rs2078005043
|
|
NM_003000.3(SDHB):c.340A>G (p.Thr114Ala)
|
rs2078005007
|
|
NM_003000.3(SDHB):c.340A>T (p.Thr114Ser)
|
rs2078005007
|
|
NM_003000.3(SDHB):c.341C>T (p.Thr114Ile)
|
|
|
NM_003000.3(SDHB):c.344G>T (p.Arg115Leu)
|
|
|
NM_003000.3(SDHB):c.347G>A (p.Arg116Lys)
|
|
|
NM_003000.3(SDHB):c.347G>C (p.Arg116Thr)
|
|
|
NM_003000.3(SDHB):c.347G>T (p.Arg116Met)
|
rs777234785
|
|
NM_003000.3(SDHB):c.349A>G (p.Ile117Val)
|
|
|
NM_003000.3(SDHB):c.34C>T (p.Arg12Trp)
|
rs761996626
|
|
NM_003000.3(SDHB):c.359A>C (p.Asn120Thr)
|
|
|
NM_003000.3(SDHB):c.359A>G (p.Asn120Ser)
|
rs1553177746
|
|
NM_003000.3(SDHB):c.35G>A (p.Arg12Gln)
|
rs1293365726
|
|
NM_003000.3(SDHB):c.35G>C (p.Arg12Pro)
|
rs1293365726
|
|
NM_003000.3(SDHB):c.35G>T (p.Arg12Leu)
|
rs1293365726
|
|
NM_003000.3(SDHB):c.361C>T (p.Leu121Phe)
|
rs1194401420
|
|
NM_003000.3(SDHB):c.367A>G (p.Lys123Glu)
|
rs1570948588
|
|
NM_003000.3(SDHB):c.368A>C (p.Lys123Thr)
|
rs1557741464
|
|
NM_003000.3(SDHB):c.368A>G (p.Lys123Arg)
|
rs1557741464
|
|
NM_003000.3(SDHB):c.369G>A (p.Lys123=)
|
|
|
NM_003000.3(SDHB):c.370G>A (p.Val124Ile)
|
rs978525560
|
|
NM_003000.3(SDHB):c.371T>C (p.Val124Ala)
|
rs1557741456
|
|
NM_003000.3(SDHB):c.374C>T (p.Ser125Leu)
|
rs786203506
|
|
NM_003000.3(SDHB):c.379A>C (p.Ile127Leu)
|
rs201372280
|
|
NM_003000.3(SDHB):c.379A>G (p.Ile127Val)
|
rs201372280
|
|
NM_003000.3(SDHB):c.383A>C (p.Tyr128Ser)
|
|
|
NM_003000.3(SDHB):c.383A>T (p.Tyr128Phe)
|
|
|
NM_003000.3(SDHB):c.385C>A (p.Pro129Thr)
|
|
|
NM_003000.3(SDHB):c.385C>G (p.Pro129Ala)
|
rs1553177740
|
|
NM_003000.3(SDHB):c.385C>T (p.Pro129Ser)
|
rs1553177740
|
|
NM_003000.3(SDHB):c.388C>T (p.Leu130Phe)
|
rs2101523045
|
|
NM_003000.3(SDHB):c.392C>T (p.Pro131Leu)
|
rs2101523036
|
|
NM_003000.3(SDHB):c.395A>G (p.His132Arg)
|
rs74315372
|
|
NM_003000.3(SDHB):c.397A>G (p.Met133Val)
|
rs1392546433
|
|
NM_003000.3(SDHB):c.398T>C (p.Met133Thr)
|
rs553392349
|
|
NM_003000.3(SDHB):c.399G>A (p.Met133Ile)
|
|
|
NM_003000.3(SDHB):c.39G>C (p.Leu13Phe)
|
rs201745731
|
|
NM_003000.3(SDHB):c.39G>T (p.Leu13Phe)
|
rs201745731
|
|
NM_003000.3(SDHB):c.401A>G (p.Tyr134Cys)
|
rs200893429
|
|
NM_003000.3(SDHB):c.406A>G (p.Ile136Val)
|
rs2078004347
|
|
NM_003000.3(SDHB):c.406A>T (p.Ile136Leu)
|
|
|
NM_003000.3(SDHB):c.407T>G (p.Ile136Arg)
|
rs2078004335
|
|
NM_003000.3(SDHB):c.408A>C (p.Ile136=)
|
|
|
NM_003000.3(SDHB):c.409A>G (p.Lys137Glu)
|
rs2078004315
|
|
NM_003000.3(SDHB):c.40C>T (p.Pro14Ser)
|
|
|
NM_003000.3(SDHB):c.411G>C (p.Lys137Asn)
|
|
|
NM_003000.3(SDHB):c.419T>A (p.Val140Asp)
|
|
|
NM_003000.3(SDHB):c.41C>A (p.Pro14Gln)
|
rs764089231
|
|
NM_003000.3(SDHB):c.422C>G (p.Pro141Arg)
|
rs1553177734
|
|
NM_003000.3(SDHB):c.422C>T (p.Pro141Leu)
|
rs1553177734
|
|
NM_003000.3(SDHB):c.423+7T>A
|
|
|
NM_003000.3(SDHB):c.423C>A (p.Pro141=)
|
|
|
NM_003000.3(SDHB):c.424-3C>G
|
rs1557741166
|
|
NM_003000.3(SDHB):c.424G>A (p.Asp142Asn)
|
|
|
NM_003000.3(SDHB):c.425A>G (p.Asp142Gly)
|
rs759709073
|
|
NM_003000.3(SDHB):c.425A>T (p.Asp142Val)
|
rs759709073
|
|
NM_003000.3(SDHB):c.427T>A (p.Leu143Met)
|
rs1570948034
|
|
NM_003000.3(SDHB):c.434A>G (p.Asn145Ser)
|
|
|
NM_003000.3(SDHB):c.436T>G (p.Phe146Val)
|
rs1553177689
|
|
NM_003000.3(SDHB):c.437T>C (p.Phe146Ser)
|
rs2101521886
|
|
NM_003000.3(SDHB):c.438C>A (p.Phe146Leu)
|
rs1570948017
|
|
NM_003000.3(SDHB):c.438C>G (p.Phe146Leu)
|
rs1570948017
|
|
NM_003000.3(SDHB):c.439T>C (p.Tyr147His)
|
|
|
NM_003000.3(SDHB):c.440A>T (p.Tyr147Phe)
|
rs774568101
|
|
NM_003000.3(SDHB):c.442G>A (p.Ala148Thr)
|
rs2078000133
|
|
NM_003000.3(SDHB):c.442G>T (p.Ala148Ser)
|
|
|
NM_003000.3(SDHB):c.446A>G (p.Gln149Arg)
|
rs1570947984
|
|
NM_003000.3(SDHB):c.447G>T (p.Gln149His)
|
rs200353146
|
|
NM_003000.3(SDHB):c.448T>C (p.Tyr150His)
|
rs2101521819
|
|
NM_003000.3(SDHB):c.452A>G (p.Lys151Arg)
|
|
|
NM_003000.3(SDHB):c.455C>A (p.Ser152Tyr)
|
rs200414835
|
|
NM_003000.3(SDHB):c.457A>T (p.Ile153Phe)
|
rs1450956956
|
|
NM_003000.3(SDHB):c.463C>T (p.Pro155Ser)
|
rs763008243
|
|
NM_003000.3(SDHB):c.46A>C (p.Thr16Pro)
|
rs1433760506
|
|
NM_003000.3(SDHB):c.46A>G (p.Thr16Ala)
|
rs1433760506
|
|
NM_003000.3(SDHB):c.470T>C (p.Leu157Ser)
|
rs2077999812
|
|
NM_003000.3(SDHB):c.472AAG[2] (p.Lys160del)
|
rs1173714647
|
|
NM_003000.3(SDHB):c.477G>C (p.Lys159Asn)
|
|
|
NM_003000.3(SDHB):c.478A>G (p.Lys160Glu)
|
|
|
NM_003000.3(SDHB):c.479A>C (p.Lys160Thr)
|
rs2077999799
|
|
NM_003000.3(SDHB):c.47C>T (p.Thr16Ile)
|
rs775350144
|
|
NM_003000.3(SDHB):c.481G>A (p.Asp161Asn)
|
rs1553177682
|
|
NM_003000.3(SDHB):c.482A>T (p.Asp161Val)
|
rs1049317868
|
|
NM_003000.3(SDHB):c.485A>G (p.Glu162Gly)
|
|
|
NM_003000.3(SDHB):c.488C>A (p.Ser163Tyr)
|
rs769687734
|
|
NM_003000.3(SDHB):c.496G>C (p.Gly166Arg)
|
|
|
NM_003000.3(SDHB):c.497G>A (p.Gly166Asp)
|
rs1060503760
|
|
NM_003000.3(SDHB):c.500A>G (p.Lys167Arg)
|
|
|
NM_003000.3(SDHB):c.500_501inv (p.Lys167Thr)
|
|
|
NM_003000.3(SDHB):c.501G>T (p.Lys167Asn)
|
rs1570947881
|
|
NM_003000.3(SDHB):c.503A>G (p.Gln168Arg)
|
|
|
NM_003000.3(SDHB):c.505C>G (p.Gln169Glu)
|
rs1553177676
|
|
NM_003000.3(SDHB):c.508T>C (p.Tyr170His)
|
|
|
NM_003000.3(SDHB):c.50C>A (p.Thr17Asn)
|
rs138979875
|
|
NM_003000.3(SDHB):c.50C>G (p.Thr17Ser)
|
|
|
NM_003000.3(SDHB):c.517T>C (p.Ser173Pro)
|
rs2077999499
|
|
NM_003000.3(SDHB):c.518C>T (p.Ser173Phe)
|
rs895331139
|
|
NM_003000.3(SDHB):c.520A>G (p.Ile174Val)
|
rs969943651
|
|
NM_003000.3(SDHB):c.521T>C (p.Ile174Thr)
|
rs200301019
|
|
NM_003000.3(SDHB):c.522A>G (p.Ile174Met)
|
rs2101521589
|
|
NM_003000.3(SDHB):c.523G>A (p.Glu175Lys)
|
rs202203339
|
|
NM_003000.3(SDHB):c.524A>G (p.Glu175Gly)
|
rs746643960
|
|
NM_003000.3(SDHB):c.526G>A (p.Glu176Lys)
|
|
|
NM_003000.3(SDHB):c.528G>A (p.Glu176=)
|
|
|
NM_003000.3(SDHB):c.529C>A (p.Arg177Ser)
|
rs149091125
|
|
NM_003000.3(SDHB):c.52C>T (p.Leu18Phe)
|
rs2101551686
|
|
NM_003000.3(SDHB):c.532G>C (p.Glu178Gln)
|
rs2077999285
|
|
NM_003000.3(SDHB):c.533A>T (p.Glu178Val)
|
rs2101521549
|
|
NM_003000.3(SDHB):c.534G>T (p.Glu178Asp)
|
rs2077999274
|
|
NM_003000.3(SDHB):c.537A>G (p.Lys179=)
|
|
|
NM_003000.3(SDHB):c.539T>C (p.Leu180Pro)
|
|
|
NM_003000.3(SDHB):c.540+3C>T
|
|
|
NM_003000.3(SDHB):c.540+4A>G
|
rs1557741074
|
|
NM_003000.3(SDHB):c.540+5T>C
|
rs1557741072
|
|
NM_003000.3(SDHB):c.540+5T>G
|
|
|
NM_003000.3(SDHB):c.541-3C>A
|
rs751920183
|
|
NM_003000.3(SDHB):c.541-3C>G
|
|
|
NM_003000.3(SDHB):c.541-8C>G
|
rs1570946001
|
|
NM_003000.3(SDHB):c.543C>A (p.Asp181Glu)
|
|
|
NM_003000.3(SDHB):c.545G>C (p.Gly182Ala)
|
rs1570945931
|
|
NM_003000.3(SDHB):c.547C>T (p.Leu183Phe)
|
rs1557740003
|
|
NM_003000.3(SDHB):c.550T>C (p.Tyr184His)
|
rs1553177442
|
|
NM_003000.3(SDHB):c.551A>G (p.Tyr184Cys)
|
rs2101516629
|
|
NM_003000.3(SDHB):c.553G>C (p.Glu185Gln)
|
rs1045881797
|
|
NM_003000.3(SDHB):c.556T>C (p.Cys186Arg)
|
|
|
NM_003000.3(SDHB):c.557G>C (p.Cys186Ser)
|
rs1553177440
|
|
NM_003000.3(SDHB):c.559A>C (p.Ile187Leu)
|
|
|
NM_003000.3(SDHB):c.559A>G (p.Ile187Val)
|
rs1557739989
|
|
NM_003000.3(SDHB):c.560T>A (p.Ile187Asn)
|
|
|
NM_003000.3(SDHB):c.562C>A (p.Leu188Ile)
|
rs1392463987
|
|
NM_003000.3(SDHB):c.562C>G (p.Leu188Val)
|
rs1392463987
|
|
NM_003000.3(SDHB):c.565T>C (p.Cys189Arg)
|
rs2077978513
|
|
NM_003000.3(SDHB):c.568G>T (p.Ala190Ser)
|
|
|
NM_003000.3(SDHB):c.569C>T (p.Ala190Val)
|
rs201900648
|
|
NM_003000.3(SDHB):c.575G>C (p.Cys192Ser)
|
rs397516835
|
|
NM_003000.3(SDHB):c.578G>A (p.Ser193Asn)
|
rs2077978395
|
|
NM_003000.3(SDHB):c.58G>A (p.Gly20Arg)
|
|
|
NM_003000.3(SDHB):c.590C>T (p.Pro197Leu)
|
|
|
NM_003000.3(SDHB):c.592A>C (p.Ser198Arg)
|
rs2077978250
|
|
NM_003000.3(SDHB):c.593G>C (p.Ser198Thr)
|
rs1570945857
|
|
NM_003000.3(SDHB):c.593G>T (p.Ser198Ile)
|
rs1570945857
|
|
NM_003000.3(SDHB):c.596A>G (p.Tyr199Cys)
|
rs2077978220
|
|
NM_003000.3(SDHB):c.598T>G (p.Trp200Gly)
|
|
|
NM_003000.3(SDHB):c.5C>T (p.Ala2Val)
|
rs199948437
|
|
NM_003000.3(SDHB):c.601T>C (p.Trp201Arg)
|
rs2101516405
|
|
NM_003000.3(SDHB):c.603G>C (p.Trp201Cys)
|
rs2077977917
|
|
NM_003000.3(SDHB):c.606C>G (p.Asn202Lys)
|
rs199653121
|
|
NM_003000.3(SDHB):c.608G>C (p.Gly203Ala)
|
rs1553177435
|
|
NM_003000.3(SDHB):c.612C>G (p.Asp204Glu)
|
rs1553177433
|
|
NM_003000.3(SDHB):c.614A>C (p.Lys205Thr)
|
rs774090318
|
|
NM_003000.3(SDHB):c.614A>G (p.Lys205Arg)
|
rs774090318
|
|
NM_003000.3(SDHB):c.617A>G (p.Tyr206Cys)
|
|
|
NM_003000.3(SDHB):c.619C>G (p.Leu207Val)
|
|
|
NM_003000.3(SDHB):c.61G>T (p.Ala21Ser)
|
|
|
NM_003000.3(SDHB):c.625C>T (p.Pro209Ser)
|
rs2101516279
|
|
NM_003000.3(SDHB):c.626C>G (p.Pro209Arg)
|
rs2077977622
|
|
NM_003000.3(SDHB):c.62C>G (p.Ala21Gly)
|
rs2078163173
|
|
NM_003000.3(SDHB):c.62C>T (p.Ala21Val)
|
rs2078163173
|
|
NM_003000.3(SDHB):c.631G>A (p.Val211Ile)
|
rs2077977582
|
|
NM_003000.3(SDHB):c.631G>C (p.Val211Leu)
|
rs2077977582
|
|
NM_003000.3(SDHB):c.632T>C (p.Val211Ala)
|
rs2101516246
|
|
NM_003000.3(SDHB):c.634C>G (p.Leu212Val)
|
rs1228560456
|
|
NM_003000.3(SDHB):c.634C>T (p.Leu212Phe)
|
rs1228560456
|
|
NM_003000.3(SDHB):c.637A>G (p.Met213Val)
|
rs770622939
|
|
NM_003000.3(SDHB):c.637A>T (p.Met213Leu)
|
rs770622939
|
|
NM_003000.3(SDHB):c.638T>G (p.Met213Arg)
|
|
|
NM_003000.3(SDHB):c.642+3G>A
|
rs878854577
|
|
NM_003000.3(SDHB):c.642+4A>G
|
rs1225871505
|
|
NM_003000.3(SDHB):c.642+5G>A
|
rs755486893
|
|
NM_003000.3(SDHB):c.642G>C (p.Gln214His)
|
rs1278834014
|
|
NM_003000.3(SDHB):c.643-10G>A
|
rs1553177293
|
|
NM_003000.3(SDHB):c.643-8_643-3del
|
rs2077969156
|
|
NM_003000.3(SDHB):c.644C>A (p.Ala215Asp)
|
rs1060503761
|
|
NM_003000.3(SDHB):c.646T>C (p.Tyr216His)
|
|
|
NM_003000.3(SDHB):c.647A>G (p.Tyr216Cys)
|
rs1553177291
|
|
NM_003000.3(SDHB):c.649C>A (p.Arg217Ser)
|
|
|
NM_003000.3(SDHB):c.654G>C (p.Trp218Cys)
|
|
|
NM_003000.3(SDHB):c.655A>G (p.Met219Val)
|
rs2077968991
|
|
NM_003000.3(SDHB):c.657G>T (p.Met219Ile)
|
|
|
NM_003000.3(SDHB):c.658A>G (p.Ile220Val)
|
rs1188548211
|
|
NM_003000.3(SDHB):c.659T>C (p.Ile220Thr)
|
rs878854578
|
|
NM_003000.3(SDHB):c.65G>A (p.Cys22Tyr)
|
rs141230910
|
|
NM_003000.3(SDHB):c.65G>T (p.Cys22Phe)
|
rs141230910
|
|
NM_003000.3(SDHB):c.661G>A (p.Asp221Asn)
|
rs1553177288
|
|
NM_003000.3(SDHB):c.664T>C (p.Ser222Pro)
|
|
|
NM_003000.3(SDHB):c.664T>G (p.Ser222Ala)
|
rs2101513953
|
|
NM_003000.3(SDHB):c.668_679del (p.Arg223_Phe226del)
|
rs2101513917
|
|
NM_003000.3(SDHB):c.670G>A (p.Asp224Asn)
|
|
|
NM_003000.3(SDHB):c.670G>C (p.Asp224His)
|
|
|
NM_003000.3(SDHB):c.673G>A (p.Asp225Asn)
|
rs1570944919
|
|
NM_003000.3(SDHB):c.676T>C (p.Phe226Leu)
|
rs1570944911
|
|
NM_003000.3(SDHB):c.67C>G (p.Leu23Val)
|
rs1553179319
|
|
NM_003000.3(SDHB):c.680C>A (p.Thr227Lys)
|
rs1486615365
|
|
NM_003000.3(SDHB):c.680C>T (p.Thr227Ile)
|
rs1486615365
|
|
NM_003000.3(SDHB):c.682G>C (p.Glu228Gln)
|
rs2077968778
|
|
NM_003000.3(SDHB):c.683A>C (p.Glu228Ala)
|
|
|
NM_003000.3(SDHB):c.687G>C (p.Glu229Asp)
|
rs1060503754
|
|
NM_003000.3(SDHB):c.68T>C (p.Leu23Pro)
|
|
|
NM_003000.3(SDHB):c.700C>G (p.Leu234Val)
|
|
|
NM_003000.3(SDHB):c.701T>A (p.Leu234Gln)
|
rs786202913
|
|
NM_003000.3(SDHB):c.704A>G (p.Gln235Arg)
|
rs1570944853
|
|
NM_003000.3(SDHB):c.705G>C (p.Gln235His)
|
rs1570944851
|
|
NM_003000.3(SDHB):c.706G>A (p.Asp236Asn)
|
rs2077968555
|
|
NM_003000.3(SDHB):c.710C>T (p.Pro237Leu)
|
rs878854579
|
|
NM_003000.3(SDHB):c.712T>G (p.Phe238Val)
|
|
|
NM_003000.3(SDHB):c.713T>C (p.Phe238Ser)
|
rs1553177279
|
|
NM_003000.3(SDHB):c.714C>A (p.Phe238Leu)
|
rs1553177278
|
|
NM_003000.3(SDHB):c.715T>C (p.Ser239Pro)
|
rs2101513765
|
|
NM_003000.3(SDHB):c.716C>A (p.Ser239Tyr)
|
rs201098090
|
|
NM_003000.3(SDHB):c.716C>G (p.Ser239Cys)
|
rs201098090
|
|
NM_003000.3(SDHB):c.716C>T (p.Ser239Phe)
|
rs201098090
|
|
NM_003000.3(SDHB):c.71A>C (p.Gln24Pro)
|
rs878854580
|
|
NM_003000.3(SDHB):c.71A>G (p.Gln24Arg)
|
rs878854580
|
|
NM_003000.3(SDHB):c.71A>T (p.Gln24Leu)
|
|
|
NM_003000.3(SDHB):c.71_72delinsCC (p.Gln24Pro)
|
rs2078163018
|
|
NM_003000.3(SDHB):c.72+3G>A
|
rs569245129
|
|
NM_003000.3(SDHB):c.72+3G>C
|
|
|
NM_003000.3(SDHB):c.72+4A>G
|
rs1228108598
|
|
NM_003000.3(SDHB):c.72+5G>A
|
rs878854581
|
|
NM_003000.3(SDHB):c.721T>G (p.Tyr241Asp)
|
rs1060503758
|
|
NM_003000.3(SDHB):c.722A>G (p.Tyr241Cys)
|
rs878854582
|
|
NM_003000.3(SDHB):c.72G>A (p.Gln24=)
|
rs1553179312
|
|
NM_003000.3(SDHB):c.72G>C (p.Gln24His)
|
rs1553179312
|
|
NM_003000.3(SDHB):c.73-29del
|
rs745905902
|
|
NM_003000.3(SDHB):c.73-5T>G
|
rs747649519
|
|
NM_003000.3(SDHB):c.73-8A>G
|
|
|
NM_003000.3(SDHB):c.73-9A>G
|
rs1553178757
|
|
NM_003000.3(SDHB):c.733A>G (p.Thr245Ala)
|
|
|
NM_003000.3(SDHB):c.734C>T (p.Thr245Ile)
|
|
|
NM_003000.3(SDHB):c.736A>T (p.Ile246Phe)
|
rs146800605
|
|
NM_003000.3(SDHB):c.737T>G (p.Ile246Ser)
|
rs1570944778
|
|
NM_003000.3(SDHB):c.738C>G (p.Ile246Met)
|
rs1476198465
|
|
NM_003000.3(SDHB):c.73G>A (p.Ala25Thr)
|
rs768101924
|
|
NM_003000.3(SDHB):c.73G>C (p.Ala25Pro)
|
rs768101924
|
|
NM_003000.3(SDHB):c.73G>T (p.Ala25Ser)
|
rs768101924
|
|
NM_003000.3(SDHB):c.741G>A (p.Met247Ile)
|
rs2077968110
|
|
NM_003000.3(SDHB):c.741G>C (p.Met247Ile)
|
rs2077968110
|
|
NM_003000.3(SDHB):c.741G>T (p.Met247Ile)
|
rs2077968110
|
|
NM_003000.3(SDHB):c.743A>G (p.Asn248Ser)
|
rs2077968083
|
|
NM_003000.3(SDHB):c.746G>C (p.Cys249Ser)
|
rs1064794269
|
|
NM_003000.3(SDHB):c.749C>G (p.Thr250Arg)
|
|
|
NM_003000.3(SDHB):c.752G>A (p.Arg251Lys)
|
rs2077968005
|
|
NM_003000.3(SDHB):c.753G>T (p.Arg251Ser)
|
rs201094649
|
|
NM_003000.3(SDHB):c.755C>T (p.Thr252Ile)
|
|
|
NM_003000.3(SDHB):c.757T>C (p.Cys253Arg)
|
|
|
NM_003000.3(SDHB):c.760C>G (p.Pro254Ala)
|
rs2101513538
|
|
NM_003000.3(SDHB):c.761C>G (p.Pro254Arg)
|
|
|
NM_003000.3(SDHB):c.761C>T (p.Pro254Leu)
|
rs948484408
|
|
NM_003000.3(SDHB):c.763A>G (p.Lys255Glu)
|
rs1570944737
|
|
NM_003000.3(SDHB):c.765+3A>T
|
rs2077967877
|
|
NM_003000.3(SDHB):c.765+4C>A
|
rs776039903
|
|
NM_003000.3(SDHB):c.765+4C>G
|
|
|
NM_003000.3(SDHB):c.765+5G>T
|
rs199945904
|
|
NM_003000.3(SDHB):c.765+6T>C
|
rs2101513489
|
|
NM_003000.3(SDHB):c.770T>A (p.Leu257Gln)
|
rs1570942652
|
|
NM_003000.3(SDHB):c.770T>G (p.Leu257Arg)
|
rs1570942652
|
|
NM_003000.3(SDHB):c.772A>C (p.Asn258His)
|
rs2077946345
|
|
NM_003000.3(SDHB):c.773A>C (p.Asn258Thr)
|
rs1570942645
|
|
NM_003000.3(SDHB):c.775C>A (p.Pro259Thr)
|
rs2077946320
|
|
NM_003000.3(SDHB):c.776C>T (p.Pro259Leu)
|
|
|
NM_003000.3(SDHB):c.779G>A (p.Gly260Glu)
|
|
|
NM_003000.3(SDHB):c.77C>T (p.Ser26Phe)
|
|
|
NM_003000.3(SDHB):c.782A>C (p.Lys261Thr)
|
rs1553176980
|
|
NM_003000.3(SDHB):c.787A>G (p.Ile263Val)
|
|
|
NM_003000.3(SDHB):c.788T>C (p.Ile263Thr)
|
|
|
NM_003000.3(SDHB):c.789del (p.Ile263fs)
|
rs2077946198
|
|
NM_003000.3(SDHB):c.791C>A (p.Ala264Glu)
|
rs1557738283
|
|
NM_003000.3(SDHB):c.793G>A (p.Glu265Lys)
|
rs2101508231
|
|
NM_003000.3(SDHB):c.797T>A (p.Ile266Asn)
|
|
|
NM_003000.3(SDHB):c.799A>G (p.Lys267Glu)
|
rs2077946088
|
|
NM_003000.3(SDHB):c.79C>G (p.Arg27Gly)
|
rs74315369
|
|
NM_003000.3(SDHB):c.801G>C (p.Lys267Asn)
|
rs771388711
|
|
NM_003000.3(SDHB):c.802A>T (p.Lys268Ter)
|
rs1060503755
|
|
NM_003000.3(SDHB):c.805A>G (p.Met269Val)
|
rs749612417
|
|
NM_003000.3(SDHB):c.808A>G (p.Met270Val)
|
rs878854584
|
|
NM_003000.3(SDHB):c.80G>C (p.Arg27Pro)
|
|
|
NM_003000.3(SDHB):c.811G>C (p.Ala271Pro)
|
|
|
NM_003000.3(SDHB):c.812C>T (p.Ala271Val)
|
rs2077945936
|
|
NM_003000.3(SDHB):c.815C>T (p.Thr272Ile)
|
rs1195207024
|
|
NM_003000.3(SDHB):c.818A>T (p.Tyr273Phe)
|
rs773523792
|
|
NM_003000.3(SDHB):c.819T>A (p.Tyr273Ter)
|
rs1553176966
|
|
NM_003000.3(SDHB):c.823_825del (p.Glu275del)
|
rs1221042239
|
|
NM_003000.3(SDHB):c.824A>C (p.Glu275Ala)
|
|
|
NM_003000.3(SDHB):c.824A>T (p.Glu275Val)
|
|
|
NM_003000.3(SDHB):c.82G>A (p.Gly28Arg)
|
rs2078100857
|
|
NM_003000.3(SDHB):c.831del (p.Ala278fs)
|
rs2101508099
|
|
NM_003000.3(SDHB):c.832G>C (p.Ala278Pro)
|
|
|
NM_003000.3(SDHB):c.835T>G (p.Ser279Ala)
|
rs1275426951
|
|
NM_003000.3(SDHB):c.835_836delinsCT (p.Ser279Leu)
|
rs2101508075
|
|
NM_003000.3(SDHB):c.83G>C (p.Gly28Ala)
|
|
|
NM_003000.3(SDHB):c.841T>G (p.Ter281Glu)
|
rs1316826258
|
|
NM_003000.3(SDHB):c.85G>T (p.Ala29Ser)
|
|
|
NM_003000.3(SDHB):c.8C>A (p.Ala3Glu)
|
rs11203289
|
|
NM_003000.3(SDHB):c.8C>T (p.Ala3Val)
|
rs11203289
|
|
NM_003000.3(SDHB):c.90G>C (p.Gln30His)
|
|
|
NM_003000.3(SDHB):c.91A>G (p.Thr31Ala)
|
|
|
NM_003000.3(SDHB):c.92C>G (p.Thr31Arg)
|
|
|
NM_003000.3(SDHB):c.92C>T (p.Thr31Ile)
|
rs1553178750
|
|
NM_003000.3(SDHB):c.94G>A (p.Ala32Thr)
|
rs1570958136
|
|
NM_003000.3(SDHB):c.94G>C (p.Ala32Pro)
|
rs1570958136
|
|
NM_003000.3(SDHB):c.95C>T (p.Ala32Val)
|
rs1570958135
|
|
NM_003000.3(SDHB):c.98C>T (p.Ala33Val)
|
|
|
NM_003001.5(SDHC):c.104A>C (p.Lys35Thr)
|
rs1342764291
|
|
NM_003001.5(SDHC):c.105A>C (p.Lys35Asn)
|
|
|
NM_003001.5(SDHC):c.106G>A (p.Glu36Lys)
|
|
|
NM_003001.5(SDHC):c.10C>G (p.Leu4Val)
|
rs770796603
|
|
NM_003001.5(SDHC):c.110A>G (p.Glu37Gly)
|
|
|
NM_003001.5(SDHC):c.110A>T (p.Glu37Val)
|
rs1671147192
|
|
NM_003001.5(SDHC):c.113T>C (p.Met38Thr)
|
rs1671147353
|
|
NM_003001.5(SDHC):c.115G>C (p.Glu39Gln)
|
|
|
NM_003001.5(SDHC):c.118C>G (p.Arg40Gly)
|
rs978019587
|
|
NM_003001.5(SDHC):c.11T>A (p.Leu4Gln)
|
|
|
NM_003001.5(SDHC):c.11T>G (p.Leu4Arg)
|
rs774299337
|
|
NM_003001.5(SDHC):c.121T>C (p.Phe41Leu)
|
rs2102307780
|
|
NM_003001.5(SDHC):c.122T>C (p.Phe41Ser)
|
rs1671152402
|
|
NM_003001.5(SDHC):c.127A>C (p.Asn43His)
|
rs1553262439
|
|
NM_003001.5(SDHC):c.130A>G (p.Lys44Glu)
|
rs2102307825
|
|
NM_003001.5(SDHC):c.133A>G (p.Asn45Asp)
|
|
|
NM_003001.5(SDHC):c.136A>G (p.Ile46Val)
|
rs1558167321
|
|
NM_003001.5(SDHC):c.137T>C (p.Ile46Thr)
|
|
|
NM_003001.5(SDHC):c.139G>A (p.Gly47Ser)
|
|
|
NM_003001.5(SDHC):c.13T>A (p.Leu5Met)
|
rs894925936
|
|
NM_003001.5(SDHC):c.140G>C (p.Gly47Ala)
|
rs1571851599
|
|
NM_003001.5(SDHC):c.143C>T (p.Ser48Leu)
|
rs1362354860
|
|
NM_003001.5(SDHC):c.146A>G (p.Asn49Ser)
|
rs1571851610
|
|
NM_003001.5(SDHC):c.146A>T (p.Asn49Ile)
|
rs1571851610
|
|
NM_003001.5(SDHC):c.149G>A (p.Arg50His)
|
rs769177037
|
|
NM_003001.5(SDHC):c.149G>T (p.Arg50Leu)
|
rs769177037
|
|
NM_003001.5(SDHC):c.152C>G (p.Pro51Arg)
|
rs1428542772
|
|
NM_003001.5(SDHC):c.154C>G (p.Leu52Val)
|
|
|
NM_003001.5(SDHC):c.160C>T (p.Pro54Ser)
|
|
|
NM_003001.5(SDHC):c.163C>G (p.His55Asp)
|
rs1671155800
|
|
NM_003001.5(SDHC):c.164A>G (p.His55Arg)
|
rs878854585
|
|
NM_003001.5(SDHC):c.166A>G (p.Ile56Val)
|
rs1363555121
|
|
NM_003001.5(SDHC):c.169A>G (p.Thr57Ala)
|
|
|
NM_003001.5(SDHC):c.16C>G (p.Leu6Val)
|
rs1325823872
|
|
NM_003001.5(SDHC):c.173T>C (p.Ile58Thr)
|
rs999134407
|
|
NM_003001.5(SDHC):c.173_175dup (p.Ile58_Tyr59insPhe)
|
rs1671156871
|
|
NM_003001.5(SDHC):c.175T>G (p.Tyr59Asp)
|
|
|
NM_003001.5(SDHC):c.178A>G (p.Ser60Gly)
|
rs1571851728
|
|
NM_003001.5(SDHC):c.179+3405A>G
|
|
|
NM_003001.5(SDHC):c.179+3A>C
|
rs1571851753
|
|
NM_003001.5(SDHC):c.179+3A>G
|
|
|
NM_003001.5(SDHC):c.179+4A>G
|
|
|
NM_003001.5(SDHC):c.179+5G>C
|
rs1671157979
|
|
NM_003001.5(SDHC):c.179G>A (p.Ser60Asn)
|
rs1179839529
|
|
NM_003001.5(SDHC):c.17T>C (p.Leu6Pro)
|
rs1211574644
|
|
NM_003001.5(SDHC):c.180-3C>T
|
rs1328389180
|
|
NM_003001.5(SDHC):c.180T>C (p.Ser60=)
|
rs752482067
|
|
NM_003001.5(SDHC):c.183G>C (p.Trp61Cys)
|
rs1571869120
|
|
NM_003001.5(SDHC):c.183G>T (p.Trp61Cys)
|
|
|
NM_003001.5(SDHC):c.185C>G (p.Ser62Cys)
|
rs1558174466
|
|
NM_003001.5(SDHC):c.187C>T (p.Leu63Phe)
|
rs2102336071
|
|
NM_003001.5(SDHC):c.190C>T (p.Pro64Ser)
|
rs1571869136
|
|
NM_003001.5(SDHC):c.191C>T (p.Pro64Leu)
|
rs876658398
|
|
NM_003001.5(SDHC):c.193A>G (p.Met65Val)
|
rs1060501392
|
|
NM_003001.5(SDHC):c.193A>T (p.Met65Leu)
|
rs1060501392
|
|
NM_003001.5(SDHC):c.194T>A (p.Met65Lys)
|
rs2102336108
|
|
NM_003001.5(SDHC):c.196G>A (p.Ala66Thr)
|
rs1162090559
|
|
NM_003001.5(SDHC):c.197C>A (p.Ala66Glu)
|
rs760572684
|
|
NM_003001.5(SDHC):c.197C>G (p.Ala66Gly)
|
rs760572684
|
|
NM_003001.5(SDHC):c.19A>C (p.Arg7=)
|
rs1670521233
|
|
NM_003001.5(SDHC):c.20+14G>T
|
rs2102272018
|
|
NM_003001.5(SDHC):c.20+3G>C
|
rs377566366
|
|
NM_003001.5(SDHC):c.20+4A>G
|
|
|
NM_003001.5(SDHC):c.20+4del
|
rs2102271885
|
|
NM_003001.5(SDHC):c.20+5C>T
|
rs760206414
|
|
NM_003001.5(SDHC):c.20+6T>A
|
|
|
NM_003001.5(SDHC):c.20+6T>G
|
rs1013252106
|
|
NM_003001.5(SDHC):c.20+98C>T
|
|
|
NM_003001.5(SDHC):c.200T>A (p.Met67Lys)
|
rs1287584713
|
|
NM_003001.5(SDHC):c.200T>C (p.Met67Thr)
|
rs1287584713
|
|
NM_003001.5(SDHC):c.201G>A (p.Met67Ile)
|
|
|
NM_003001.5(SDHC):c.202T>C (p.Ser68Pro)
|
rs2102336180
|
|
NM_003001.5(SDHC):c.203C>T (p.Ser68Phe)
|
|
|
NM_003001.5(SDHC):c.20G>A (p.Arg7Lys)
|
rs2102271857
|
|
NM_003001.5(SDHC):c.21-3C>T
|
rs1670921815
|
|
NM_003001.5(SDHC):c.21-5T>G
|
|
|
NM_003001.5(SDHC):c.211C>T (p.His71Tyr)
|
|
|
NM_003001.5(SDHC):c.214C>G (p.Arg72Gly)
|
|
|
NM_003001.5(SDHC):c.220A>G (p.Thr74Ala)
|
rs1060501391
|
|
NM_003001.5(SDHC):c.226A>G (p.Ile76Val)
|
rs1060501389
|
|
NM_003001.5(SDHC):c.22C>A (p.His8Asn)
|
rs746666691
|
|
NM_003001.5(SDHC):c.22C>T (p.His8Tyr)
|
rs746666691
|
|
NM_003001.5(SDHC):c.230C>A (p.Ala77Asp)
|
rs1060501393
|
|
NM_003001.5(SDHC):c.232T>G (p.Leu78Val)
|
rs1553264225
|
|
NM_003001.5(SDHC):c.237T>G (p.Ser79Arg)
|
|
|
NM_003001.5(SDHC):c.240A>G (p.Ala80=)
|
rs1671687938
|
|
NM_003001.5(SDHC):c.241+4T>C
|
|
|
NM_003001.5(SDHC):c.241+5G>A
|
rs1167538377
|
|
NM_003001.5(SDHC):c.241+5dup
|
rs2102336440
|
|
NM_003001.5(SDHC):c.241G>T (p.Gly81Trp)
|
rs2102336404
|
|
NM_003001.5(SDHC):c.242-6C>A
|
rs1571889931
|
|
NM_003001.5(SDHC):c.244G>A (p.Val82Ile)
|
rs570325845
|
|
NM_003001.5(SDHC):c.244G>T (p.Val82Phe)
|
rs570325845
|
|
NM_003001.5(SDHC):c.247T>C (p.Ser83Pro)
|
rs1558182753
|
|
NM_003001.5(SDHC):c.247T>G (p.Ser83Ala)
|
rs1558182753
|
|
NM_003001.5(SDHC):c.24C>A (p.His8Gln)
|
rs761381438
|
|
NM_003001.5(SDHC):c.250C>A (p.Leu84Ile)
|
rs942160050
|
|
NM_003001.5(SDHC):c.250C>G (p.Leu84Val)
|
rs942160050
|
|
NM_003001.5(SDHC):c.251T>G (p.Leu84Arg)
|
rs1672284764
|
|
NM_003001.5(SDHC):c.254T>C (p.Phe85Ser)
|
rs1672284859
|
|
NM_003001.5(SDHC):c.254T>G (p.Phe85Cys)
|
rs1672284859
|
|
NM_003001.5(SDHC):c.257G>A (p.Gly86Asp)
|
|
|
NM_003001.5(SDHC):c.259A>G (p.Met87Val)
|
rs756382502
|
|
NM_003001.5(SDHC):c.25G>T (p.Val9Phe)
|
rs774768866
|
|
NM_003001.5(SDHC):c.260T>C (p.Met87Thr)
|
rs2102370399
|
|
NM_003001.5(SDHC):c.271T>G (p.Leu91Val)
|
rs144532303
|
|
NM_003001.5(SDHC):c.274C>T (p.Leu92Phe)
|
rs1672286186
|
|
NM_003001.5(SDHC):c.278C>T (p.Pro93Leu)
|
|
|
NM_003001.5(SDHC):c.287T>G (p.Phe96Cys)
|
|
|
NM_003001.5(SDHC):c.290A>G (p.Glu97Gly)
|
rs1672286669
|
|
NM_003001.5(SDHC):c.291G>C (p.Glu97Asp)
|
|
|
NM_003001.5(SDHC):c.296A>G (p.Tyr99Cys)
|
rs1060501390
|
|
NM_003001.5(SDHC):c.296A>T (p.Tyr99Phe)
|
|
|
NM_003001.5(SDHC):c.29G>C (p.Gly10Ala)
|
rs1670923061
|
|
NM_003001.5(SDHC):c.301G>A (p.Glu101Lys)
|
rs1571890168
|
|
NM_003001.5(SDHC):c.304C>T (p.Leu102Phe)
|
rs1571890177
|
|
NM_003001.5(SDHC):c.307G>A (p.Val103Met)
|
rs896411432
|
|
NM_003001.5(SDHC):c.308T>A (p.Val103Glu)
|
|
|
NM_003001.5(SDHC):c.310A>G (p.Lys104Glu)
|
|
|
NM_003001.5(SDHC):c.316C>G (p.Leu106Val)
|
|
|
NM_003001.5(SDHC):c.329C>T (p.Pro110Leu)
|
rs776485432
|
|
NM_003001.5(SDHC):c.32G>A (p.Arg11His)
|
rs767802663
|
|
NM_003001.5(SDHC):c.32G>T (p.Arg11Leu)
|
rs767802663
|
|
NM_003001.5(SDHC):c.332C>T (p.Ala111Val)
|
|
|
NM_003001.5(SDHC):c.337A>G (p.Ile113Val)
|
rs1558182863
|
|
NM_003001.5(SDHC):c.341A>C (p.His114Pro)
|
|
|
NM_003001.5(SDHC):c.349A>C (p.Lys117Gln)
|
|
|
NM_003001.5(SDHC):c.34C>G (p.His12Asp)
|
rs1670923808
|
|
NM_003001.5(SDHC):c.350A>G (p.Lys117Arg)
|
rs1571890337
|
|
NM_003001.5(SDHC):c.355G>A (p.Ala119Thr)
|
|
|
NM_003001.5(SDHC):c.356C>T (p.Ala119Val)
|
|
|
NM_003001.5(SDHC):c.359T>G (p.Leu120Arg)
|
rs1672292051
|
|
NM_003001.5(SDHC):c.35A>G (p.His12Arg)
|
rs1670923933
|
|
NM_003001.5(SDHC):c.35A>T (p.His12Leu)
|
|
|
NM_003001.5(SDHC):c.362T>C (p.Val121Ala)
|
|
|
NM_003001.5(SDHC):c.364T>C (p.Phe122Leu)
|
rs1553265808
|
|
NM_003001.5(SDHC):c.364T>G (p.Phe122Val)
|
rs1553265808
|
|
NM_003001.5(SDHC):c.366C>G (p.Phe122Leu)
|
rs868596979
|
|
NM_003001.5(SDHC):c.367C>G (p.Pro123Ala)
|
rs773039986
|
|
NM_003001.5(SDHC):c.367C>T (p.Pro123Ser)
|
rs773039986
|
|
NM_003001.5(SDHC):c.368C>T (p.Pro123Leu)
|
rs1571890413
|
|
NM_003001.5(SDHC):c.370C>G (p.Leu124Val)
|
rs1571890420
|
|
NM_003001.5(SDHC):c.373A>G (p.Met125Val)
|
rs771059368
|
|
NM_003001.5(SDHC):c.374T>C (p.Met125Thr)
|
rs1060501387
|
|
NM_003001.5(SDHC):c.375G>A (p.Met125Ile)
|
|
|
NM_003001.5(SDHC):c.379C>G (p.His127Asp)
|
rs1485675090
|
|
NM_003001.5(SDHC):c.37T>A (p.Cys13Ser)
|
|
|
NM_003001.5(SDHC):c.37T>C (p.Cys13Arg)
|
|
|
NM_003001.5(SDHC):c.385T>C (p.Trp129Arg)
|
rs541278701
|
|
NM_003001.5(SDHC):c.387G>C (p.Trp129Cys)
|
rs981049067
|
|
NM_003001.5(SDHC):c.38G>A (p.Cys13Tyr)
|
rs1558164528
|
|
NM_003001.5(SDHC):c.38G>C (p.Cys13Ser)
|
rs1558164528
|
|
NM_003001.5(SDHC):c.38G>T (p.Cys13Phe)
|
rs1558164528
|
|
NM_003001.5(SDHC):c.394A>G (p.Ile132Val)
|
rs2102371416
|
|
NM_003001.5(SDHC):c.403T>A (p.Leu135Met)
|
rs1455783076
|
|
NM_003001.5(SDHC):c.405+6T>G
|
|
|
NM_003001.5(SDHC):c.405G>T (p.Leu135Phe)
|
rs757663926
|
|
NM_003001.5(SDHC):c.406-2A>C
|
|
|
NM_003001.5(SDHC):c.406-3C>T
|
rs372490900
|
|
NM_003001.5(SDHC):c.406-6C>G
|
rs1337338303
|
|
NM_003001.5(SDHC):c.406A>C (p.Met136Leu)
|
rs1486341484
|
|
NM_003001.5(SDHC):c.409T>C (p.Trp137Arg)
|
rs890210469
|
|
NM_003001.5(SDHC):c.410G>T (p.Trp137Leu)
|
rs1060501385
|
|
NM_003001.5(SDHC):c.419G>A (p.Gly140Glu)
|
|
|
NM_003001.5(SDHC):c.422A>G (p.Lys141Arg)
|
rs1558185879
|
|
NM_003001.5(SDHC):c.422_423insT (p.Lys141fs)
|
rs1672548902
|
|
NM_003001.5(SDHC):c.424G>T (p.Gly142Cys)
|
rs2102385085
|
|
NM_003001.5(SDHC):c.432G>T (p.Lys144Asn)
|
rs1366410028
|
|
NM_003001.5(SDHC):c.434T>C (p.Ile145Thr)
|
rs1553266487
|
|
NM_003001.5(SDHC):c.435T>G (p.Ile145Met)
|
|
|
NM_003001.5(SDHC):c.439C>T (p.Gln147Ter)
|
rs1571898957
|
|
NM_003001.5(SDHC):c.43C>G (p.Arg15Gly)
|
rs201286421
|
|
NM_003001.5(SDHC):c.441G>T (p.Gln147His)
|
|
|
NM_003001.5(SDHC):c.445T>C (p.Tyr149His)
|
rs2102385345
|
|
NM_003001.5(SDHC):c.448C>A (p.Gln150Lys)
|
rs773142195
|
|
NM_003001.5(SDHC):c.44G>A (p.Arg15Gln)
|
rs1294873008
|
|
NM_003001.5(SDHC):c.451T>C (p.Ser151Pro)
|
rs1558185927
|
|
NM_003001.5(SDHC):c.452C>A (p.Ser151Tyr)
|
rs1571899020
|
|
NM_003001.5(SDHC):c.452C>G (p.Ser151Cys)
|
|
|
NM_003001.5(SDHC):c.452C>T (p.Ser151Phe)
|
|
|
NM_003001.5(SDHC):c.454G>A (p.Gly152Arg)
|
rs1558185932
|
|
NM_003001.5(SDHC):c.455G>A (p.Gly152Glu)
|
rs1060501386
|
|
NM_003001.5(SDHC):c.455G>C (p.Gly152Ala)
|
|
|
NM_003001.5(SDHC):c.455G>T (p.Gly152Val)
|
rs1060501386
|
|
NM_003001.5(SDHC):c.457G>A (p.Val153Met)
|
|
|
NM_003001.5(SDHC):c.457G>T (p.Val153Leu)
|
|
|
NM_003001.5(SDHC):c.460G>C (p.Val154Leu)
|
|
|
NM_003001.5(SDHC):c.460del (p.Val154fs)
|
rs786201665
|
|
NM_003001.5(SDHC):c.463G>T (p.Val155Phe)
|
|
|
NM_003001.5(SDHC):c.464T>C (p.Val155Ala)
|
rs1672552536
|
|
NM_003001.5(SDHC):c.469G>A (p.Val157Ile)
|
|
|
NM_003001.5(SDHC):c.46G>A (p.Ala16Thr)
|
rs878994954
|
|
NM_003001.5(SDHC):c.473T>C (p.Leu158Pro)
|
|
|
NM_003001.5(SDHC):c.474_477del (p.Thr159fs)
|
|
|
NM_003001.5(SDHC):c.475A>C (p.Thr159Pro)
|
rs2102385668
|
|
NM_003001.5(SDHC):c.478G>A (p.Val160Met)
|
rs1553266502
|
|
NM_003001.5(SDHC):c.47C>A (p.Ala16Asp)
|
rs1558164567
|
|
NM_003001.5(SDHC):c.484T>C (p.Ser162Pro)
|
|
|
NM_003001.5(SDHC):c.485C>G (p.Ser162Cys)
|
rs1553266504
|
|
NM_003001.5(SDHC):c.485C>T (p.Ser162Phe)
|
rs1553266504
|
|
NM_003001.5(SDHC):c.487T>C (p.Ser163Pro)
|
rs1553266506
|
|
NM_003001.5(SDHC):c.488C>G (p.Ser163Cys)
|
|
|
NM_003001.5(SDHC):c.490A>G (p.Met164Val)
|
rs200375156
|
|
NM_003001.5(SDHC):c.491T>C (p.Met164Thr)
|
|
|
NM_003001.5(SDHC):c.497T>G (p.Leu166Arg)
|
rs1571899223
|
|
NM_003001.5(SDHC):c.497dup (p.Ala167fs)
|
|
|
NM_003001.5(SDHC):c.49C>T (p.His17Tyr)
|
rs2102295552
|
|
NM_003001.5(SDHC):c.4G>A (p.Ala2Thr)
|
rs1198315342
|
|
NM_003001.5(SDHC):c.4G>C (p.Ala2Pro)
|
rs1198315342
|
|
NM_003001.5(SDHC):c.500C>T (p.Ala167Val)
|
|
|
NM_003001.5(SDHC):c.501_503dup (p.Ala168_Met169insAla)
|
|
|
NM_003001.5(SDHC):c.502G>A (p.Ala168Thr)
|
rs1672554961
|
|
NM_003001.5(SDHC):c.505A>G (p.Met169Val)
|
|
|
NM_003001.5(SDHC):c.505_507delinsTTT (p.Met169Phe)
|
rs1571899249
|
|
NM_003001.5(SDHC):c.508T>C (p.Ter170Arg)
|
rs1672555380
|
|
NM_003001.5(SDHC):c.55A>G (p.Ser19Gly)
|
rs1670926798
|
|
NM_003001.5(SDHC):c.58C>T (p.Pro20Ser)
|
|
|
NM_003001.5(SDHC):c.5C>T (p.Ala2Val)
|
|
|
NM_003001.5(SDHC):c.61C>G (p.Gln21Glu)
|
rs1553261768
|
|
NM_003001.5(SDHC):c.66_74del (p.Cys23_Arg25del)
|
|
|
NM_003001.5(SDHC):c.67T>C (p.Cys23Arg)
|
rs2102295690
|
|
NM_003001.5(SDHC):c.68G>A (p.Cys23Tyr)
|
|
|
NM_003001.5(SDHC):c.71T>A (p.Ile24Asn)
|
rs2102295698
|
|
NM_003001.5(SDHC):c.73A>G (p.Arg25Gly)
|
rs878854587
|
|
NM_003001.5(SDHC):c.74G>T (p.Arg25Ile)
|
|
|
NM_003001.5(SDHC):c.76A>G (p.Asn26Asp)
|
rs1670928309
|
|
NM_003001.5(SDHC):c.77+2dup
|
rs766486676
|
|
NM_003001.5(SDHC):c.77+5G>C
|
|
|
NM_003001.5(SDHC):c.77+9C>G
|
|
|
NM_003001.5(SDHC):c.77A>G (p.Asn26Ser)
|
rs1670928456
|
|
NM_003001.5(SDHC):c.78-19del
|
|
|
NM_003001.5(SDHC):c.78T>C (p.Asn26=)
|
|
|
NM_003001.5(SDHC):c.7G>C (p.Ala3Pro)
|
|
|
NM_003001.5(SDHC):c.7G>T (p.Ala3Ser)
|
rs748243732
|
|
NM_003001.5(SDHC):c.80C>T (p.Ala27Val)
|
|
|
NM_003001.5(SDHC):c.82G>A (p.Val28Ile)
|
rs754818119
|
|
NM_003001.5(SDHC):c.82G>C (p.Val28Leu)
|
rs754818119
|
|
NM_003001.5(SDHC):c.86C>T (p.Pro29Leu)
|
rs1671145169
|
|
NM_003001.5(SDHC):c.8C>A (p.Ala3Glu)
|
rs142139022
|
|
NM_003001.5(SDHC):c.91G>C (p.Gly31Arg)
|
|
|
NM_003001.5(SDHC):c.94A>G (p.Thr32Ala)
|
rs1457574786
|
|
NM_003001.5(SDHC):c.95C>A (p.Thr32Asn)
|
rs1571851464
|
|
NM_003001.5(SDHC):c.95C>G (p.Thr32Ser)
|
rs1571851464
|
|
NM_003001.5(SDHC):c.97A>G (p.Thr33Ala)
|
rs747828462
|
|
NM_003001.5(SDHC):c.98C>A (p.Thr33Lys)
|
rs148566767
|
|
NM_003002.4(SDHD):c.118A>C (p.Ile40Leu)
|
rs146276662
|
|
NM_003002.4(SDHD):c.175T>C (p.Ser59Pro)
|
rs1592780294
|
|
NM_003002.4(SDHD):c.232G>C (p.Gly78Arg)
|
rs1592780479
|
|
NM_003002.4(SDHD):c.473_*3dup (p.Lys158_Ter160=)
|
rs878854596
|
|
NM_003072.5(SMARCA4):c.*6_*32dup (p.Ter1648=)
|
rs1555797492
|
|
NM_003072.5(SMARCA4):c.-32+34C>T
|
rs1351249230
|
|
NM_003072.5(SMARCA4):c.1000G>T (p.Gly334Trp)
|
rs1364450672
|
|
NM_003072.5(SMARCA4):c.1003C>A (p.Gln335Lys)
|
rs374054124
|
|
NM_003072.5(SMARCA4):c.1007C>A (p.Pro336Gln)
|
|
|
NM_003072.5(SMARCA4):c.1014G>C (p.Gln338His)
|
rs2086195287
|
|
NM_003072.5(SMARCA4):c.1016C>T (p.Pro339Leu)
|
rs554354092
|
|
NM_003072.5(SMARCA4):c.1018G>T (p.Ala340Ser)
|
rs371214327
|
|
NM_003072.5(SMARCA4):c.101C>T (p.Pro34Leu)
|
|
|
NM_003072.5(SMARCA4):c.1022C>T (p.Pro341Leu)
|
rs2086196449
|
|
NM_003072.5(SMARCA4):c.1027G>C (p.Val343Leu)
|
rs1599970530
|
|
NM_003072.5(SMARCA4):c.1027G>T (p.Val343Leu)
|
rs1599970530
|
|
NM_003072.5(SMARCA4):c.1028T>C (p.Val343Ala)
|
rs1568427296
|
|
NM_003072.5(SMARCA4):c.1030C>A (p.Pro344Thr)
|
rs771509538
|
|
NM_003072.5(SMARCA4):c.1031C>G (p.Pro344Arg)
|
|
|
NM_003072.5(SMARCA4):c.1033C>A (p.Leu345Met)
|
rs888226264
|
|
NM_003072.5(SMARCA4):c.1034T>C (p.Leu345Pro)
|
rs1599970814
|
|
NM_003072.5(SMARCA4):c.1034T>G (p.Leu345Arg)
|
rs1599970814
|
|
NM_003072.5(SMARCA4):c.1035_1036delinsAA (p.His346Asn)
|
|
|
NM_003072.5(SMARCA4):c.1036C>T (p.His346Tyr)
|
|
|
NM_003072.5(SMARCA4):c.1041G>T (p.Gln347His)
|
rs773687860
|
|
NM_003072.5(SMARCA4):c.1045C>G (p.Gln349Glu)
|
rs1060502092
|
|
NM_003072.5(SMARCA4):c.1048A>G (p.Ser350Gly)
|
|
|
NM_003072.5(SMARCA4):c.1052G>T (p.Arg351Leu)
|
rs1018881303
|
|
NM_003072.5(SMARCA4):c.1054A>T (p.Ile352Phe)
|
|
|
NM_003072.5(SMARCA4):c.1055T>A (p.Ile352Asn)
|
rs1568427448
|
|
NM_003072.5(SMARCA4):c.1055T>G (p.Ile352Ser)
|
rs1568427448
|
|
NM_003072.5(SMARCA4):c.1058C>T (p.Thr353Ile)
|
rs2145820918
|
|
NM_003072.5(SMARCA4):c.1060C>G (p.Pro354Ala)
|
|
|
NM_003072.5(SMARCA4):c.1060C>T (p.Pro354Ser)
|
rs864622680
|
|
NM_003072.5(SMARCA4):c.1061C>A (p.Pro354His)
|
rs1599971262
|
|
NM_003072.5(SMARCA4):c.1061C>T (p.Pro354Leu)
|
|
|
NM_003072.5(SMARCA4):c.1064T>A (p.Ile355Asn)
|
|
|
NM_003072.5(SMARCA4):c.1065C>G (p.Ile355Met)
|
rs1342901943
|
|
NM_003072.5(SMARCA4):c.1067A>G (p.Gln356Arg)
|
rs2086201417
|
|
NM_003072.5(SMARCA4):c.106C>T (p.Pro36Ser)
|
rs1555750794
|
|
NM_003072.5(SMARCA4):c.1079G>A (p.Gly360Asp)
|
rs1555755289
|
|
NM_003072.5(SMARCA4):c.1079G>T (p.Gly360Val)
|
|
|
NM_003072.5(SMARCA4):c.1081C>A (p.Leu361Ile)
|
rs1222895303
|
|
NM_003072.5(SMARCA4):c.1081C>T (p.Leu361Phe)
|
|
|
NM_003072.5(SMARCA4):c.1084G>C (p.Asp362His)
|
|
|
NM_003072.5(SMARCA4):c.1086C>A (p.Asp362Glu)
|
rs1599971944
|
|
NM_003072.5(SMARCA4):c.1088C>T (p.Pro363Leu)
|
rs1568427632
|
|
NM_003072.5(SMARCA4):c.1093G>A (p.Glu365Lys)
|
|
|
NM_003072.5(SMARCA4):c.1093G>C (p.Glu365Gln)
|
|
|
NM_003072.5(SMARCA4):c.1094A>G (p.Glu365Gly)
|
rs2145822167
|
|
NM_003072.5(SMARCA4):c.1095G>C (p.Glu365Asp)
|
rs2145822205
|
|
NM_003072.5(SMARCA4):c.1096A>T (p.Ile366Phe)
|
|
|
NM_003072.5(SMARCA4):c.1097T>C (p.Ile366Thr)
|
rs2145822279
|
|
NM_003072.5(SMARCA4):c.1099C>G (p.Leu367Val)
|
rs372379166
|
|
NM_003072.5(SMARCA4):c.109G>A (p.Gly37Ser)
|
rs2085812988
|
|
NM_003072.5(SMARCA4):c.10C>G (p.Pro4Ala)
|
rs2085801503
|
|
NM_003072.5(SMARCA4):c.10C>T (p.Pro4Ser)
|
rs2085801503
|
|
NM_003072.5(SMARCA4):c.1108C>T (p.Arg370Cys)
|
rs1436490540
|
|
NM_003072.5(SMARCA4):c.1109G>A (p.Arg370His)
|
rs878854197
|
|
NM_003072.5(SMARCA4):c.110G>A (p.Gly37Asp)
|
rs2085813185
|
|
NM_003072.5(SMARCA4):c.1111G>A (p.Glu371Lys)
|
rs1599972601
|
|
NM_003072.5(SMARCA4):c.1114T>A (p.Tyr372Asn)
|
|
|
NM_003072.5(SMARCA4):c.1117A>G (p.Arg373Gly)
|
rs1555755346
|
|
NM_003072.5(SMARCA4):c.1118+1G>A
|
|
|
NM_003072.5(SMARCA4):c.1118+3G>T
|
rs1568427837
|
|
NM_003072.5(SMARCA4):c.1118+4A>T
|
rs2086207488
|
|
NM_003072.5(SMARCA4):c.1118+5G>A
|
rs1351206812
|
|
NM_003072.5(SMARCA4):c.1118+6G>A
|
rs1471938505
|
|
NM_003072.5(SMARCA4):c.1119-5C>G
|
rs1555756257
|
|
NM_003072.5(SMARCA4):c.1120C>G (p.Leu374Val)
|
|
|
NM_003072.5(SMARCA4):c.1124A>G (p.Gln375Arg)
|
rs2145846611
|
|
NM_003072.5(SMARCA4):c.1127C>T (p.Ala376Val)
|
rs2086347503
|
|
NM_003072.5(SMARCA4):c.1129C>T (p.Arg377Cys)
|
|
|
NM_003072.5(SMARCA4):c.112T>C (p.Ser38Pro)
|
rs1599929325
|
|
NM_003072.5(SMARCA4):c.1130G>A (p.Arg377His)
|
rs1555756272
|
|
NM_003072.5(SMARCA4):c.1130G>T (p.Arg377Leu)
|
rs1555756272
|
|
NM_003072.5(SMARCA4):c.1132A>G (p.Ile378Val)
|
rs540717794
|
|
NM_003072.5(SMARCA4):c.1133T>C (p.Ile378Thr)
|
rs1599995171
|
|
NM_003072.5(SMARCA4):c.1135G>C (p.Ala379Pro)
|
|
|
NM_003072.5(SMARCA4):c.1135G>T (p.Ala379Ser)
|
rs769660597
|
|
NM_003072.5(SMARCA4):c.1138C>T (p.His380Tyr)
|
|
|
NM_003072.5(SMARCA4):c.113C>T (p.Ser38Phe)
|
|
|
NM_003072.5(SMARCA4):c.1142G>A (p.Arg381Gln)
|
rs749059769
|
|
NM_003072.5(SMARCA4):c.115G>T (p.Ala39Ser)
|
rs764312409
|
|
NM_003072.5(SMARCA4):c.1163T>C (p.Leu388Pro)
|
rs1555756337
|
|
NM_003072.5(SMARCA4):c.1168G>A (p.Gly390Arg)
|
rs1568430508
|
|
NM_003072.5(SMARCA4):c.116C>T (p.Ala39Val)
|
rs2145723731
|
|
NM_003072.5(SMARCA4):c.1175T>A (p.Leu392Gln)
|
|
|
NM_003072.5(SMARCA4):c.1180G>A (p.Gly394Arg)
|
rs1046318786
|
|
NM_003072.5(SMARCA4):c.1180G>C (p.Gly394Arg)
|
|
|
NM_003072.5(SMARCA4):c.1184A>G (p.Asp395Gly)
|
rs2086352477
|
|
NM_003072.5(SMARCA4):c.1187T>G (p.Leu396Trp)
|
rs2145848630
|
|
NM_003072.5(SMARCA4):c.1189C>G (p.Arg397Gly)
|
|
|
NM_003072.5(SMARCA4):c.118C>T (p.His40Tyr)
|
rs2145723792
|
|
NM_003072.5(SMARCA4):c.1195A>G (p.Lys399Glu)
|
rs2145848866
|
|
NM_003072.5(SMARCA4):c.1196A>G (p.Lys399Arg)
|
|
|
NM_003072.5(SMARCA4):c.1196A>T (p.Lys399Ile)
|
rs1364132635
|
|
NM_003072.5(SMARCA4):c.1198G>T (p.Ala400Ser)
|
|
|
NM_003072.5(SMARCA4):c.119A>G (p.His40Arg)
|
rs1178566757
|
|
NM_003072.5(SMARCA4):c.1205T>C (p.Ile402Thr)
|
rs1599996370
|
|
NM_003072.5(SMARCA4):c.1207G>A (p.Glu403Lys)
|
rs1555756388
|
|
NM_003072.5(SMARCA4):c.1208A>G (p.Glu403Gly)
|
|
|
NM_003072.5(SMARCA4):c.120C>G (p.His40Gln)
|
rs375884151
|
|
NM_003072.5(SMARCA4):c.1210C>T (p.Leu404Phe)
|
|
|
NM_003072.5(SMARCA4):c.1214A>G (p.Lys405Arg)
|
|
|
NM_003072.5(SMARCA4):c.1217C>T (p.Ala406Val)
|
|
|
NM_003072.5(SMARCA4):c.1219C>T (p.Leu407Phe)
|
rs1060502078
|
|
NM_003072.5(SMARCA4):c.121A>G (p.Ser41Gly)
|
rs1555750818
|
|
NM_003072.5(SMARCA4):c.1222A>G (p.Arg408Gly)
|
rs2086355525
|
|
NM_003072.5(SMARCA4):c.1223G>A (p.Arg408Lys)
|
rs2145849759
|
|
NM_003072.5(SMARCA4):c.1225C>A (p.Leu409Met)
|
rs2145849845
|
|
NM_003072.5(SMARCA4):c.1234T>C (p.Phe412Leu)
|
|
|
NM_003072.5(SMARCA4):c.1236C>G (p.Phe412Leu)
|
|
|
NM_003072.5(SMARCA4):c.1245+3G>A
|
rs2145850436
|
|
NM_003072.5(SMARCA4):c.1245+4G>A
|
rs2145850485
|
|
NM_003072.5(SMARCA4):c.1245+5G>C
|
rs2145850551
|
|
NM_003072.5(SMARCA4):c.1245+6delinsAATCTGGAAA
|
|
|
NM_003072.5(SMARCA4):c.1245G>A (p.Gln415=)
|
rs2145850376
|
|
NM_003072.5(SMARCA4):c.1245G>C (p.Gln415His)
|
|
|
NM_003072.5(SMARCA4):c.1246-3C>T
|
|
|
NM_003072.5(SMARCA4):c.1246-6C>G
|
|
|
NM_003072.5(SMARCA4):c.1247T>G (p.Leu416Arg)
|
rs2086525774
|
|
NM_003072.5(SMARCA4):c.1249C>T (p.Arg417Cys)
|
rs2086525936
|
|
NM_003072.5(SMARCA4):c.124A>C (p.Met42Leu)
|
rs1060502081
|
|
NM_003072.5(SMARCA4):c.124A>G (p.Met42Val)
|
rs1060502081
|
|
NM_003072.5(SMARCA4):c.124A>T (p.Met42Leu)
|
|
|
NM_003072.5(SMARCA4):c.1250G>A (p.Arg417His)
|
rs2086526099
|
|
NM_003072.5(SMARCA4):c.1250G>T (p.Arg417Leu)
|
|
|
NM_003072.5(SMARCA4):c.1253A>G (p.Gln418Arg)
|
|
|
NM_003072.5(SMARCA4):c.1255G>C (p.Glu419Gln)
|
rs1600022414
|
|
NM_003072.5(SMARCA4):c.1257G>T (p.Glu419Asp)
|
|
|
NM_003072.5(SMARCA4):c.125T>C (p.Met42Thr)
|
rs1046243225
|
|
NM_003072.5(SMARCA4):c.1261G>C (p.Val421Leu)
|
|
|
NM_003072.5(SMARCA4):c.1264G>A (p.Val422Met)
|
rs1555757536
|
|
NM_003072.5(SMARCA4):c.126G>C (p.Met42Ile)
|
rs765325777
|
|
NM_003072.5(SMARCA4):c.126G>T (p.Met42Ile)
|
rs765325777
|
|
NM_003072.5(SMARCA4):c.1270A>C (p.Met424Leu)
|
rs1555757541
|
|
NM_003072.5(SMARCA4):c.1273C>T (p.Arg425Trp)
|
rs2145878488
|
|
NM_003072.5(SMARCA4):c.1279G>A (p.Asp427Asn)
|
rs2086528184
|
|
NM_003072.5(SMARCA4):c.1279G>T (p.Asp427Tyr)
|
|
|
NM_003072.5(SMARCA4):c.127A>G (p.Met43Val)
|
rs375812959
|
|
NM_003072.5(SMARCA4):c.127A>T (p.Met43Leu)
|
rs375812959
|
|
NM_003072.5(SMARCA4):c.1282A>G (p.Thr428Ala)
|
rs2145878787
|
|
NM_003072.5(SMARCA4):c.1283C>A (p.Thr428Lys)
|
rs2086528346
|
|
NM_003072.5(SMARCA4):c.1285G>A (p.Ala429Thr)
|
|
|
NM_003072.5(SMARCA4):c.1291G>A (p.Glu431Lys)
|
rs1792421235
|
|
NM_003072.5(SMARCA4):c.1292A>G (p.Glu431Gly)
|
rs2145879071
|
|
NM_003072.5(SMARCA4):c.1295C>T (p.Thr432Ile)
|
rs2086529449
|
|
NM_003072.5(SMARCA4):c.129G>A (p.Met43Ile)
|
rs1599929580
|
|
NM_003072.5(SMARCA4):c.1300C>G (p.Leu434Val)
|
rs2145879278
|
|
NM_003072.5(SMARCA4):c.1304A>G (p.Asn435Ser)
|
rs1555757591
|
|
NM_003072.5(SMARCA4):c.1306G>A (p.Ala436Thr)
|
rs2086530559
|
|
NM_003072.5(SMARCA4):c.1307C>A (p.Ala436Asp)
|
rs1600023098
|
|
NM_003072.5(SMARCA4):c.1312G>A (p.Ala438Thr)
|
|
|
NM_003072.5(SMARCA4):c.1316A>T (p.Tyr439Phe)
|
|
|
NM_003072.5(SMARCA4):c.1319A>G (p.Lys440Arg)
|
rs2145879866
|
|
NM_003072.5(SMARCA4):c.1321C>A (p.Arg441Ser)
|
rs1600023226
|
|
NM_003072.5(SMARCA4):c.1321C>T (p.Arg441Cys)
|
rs1600023226
|
|
NM_003072.5(SMARCA4):c.1324A>C (p.Ser442Arg)
|
rs1600023338
|
|
NM_003072.5(SMARCA4):c.1331G>C (p.Arg444Pro)
|
|
|
NM_003072.5(SMARCA4):c.1334A>G (p.Gln445Arg)
|
rs2086532633
|
|
NM_003072.5(SMARCA4):c.1335G>C (p.Gln445His)
|
rs1461859748
|
|
NM_003072.5(SMARCA4):c.1342C>T (p.Arg448Cys)
|
rs2086533643
|
|
NM_003072.5(SMARCA4):c.1343G>A (p.Arg448His)
|
rs1060502063
|
|
NM_003072.5(SMARCA4):c.1348G>T (p.Ala450Ser)
|
rs1204677224
|
|
NM_003072.5(SMARCA4):c.1349C>T (p.Ala450Val)
|
rs1555757651
|
|
NM_003072.5(SMARCA4):c.134C>A (p.Pro45His)
|
rs367601832
|
|
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys)
|
rs2086534839
|
|
NM_003072.5(SMARCA4):c.1352G>A (p.Arg451His)
|
|
|
NM_003072.5(SMARCA4):c.1354A>G (p.Ile452Val)
|
rs2086535406
|
|
NM_003072.5(SMARCA4):c.1358C>T (p.Thr453Ile)
|
rs1057518862
|
|
NM_003072.5(SMARCA4):c.1364A>G (p.Lys455Arg)
|
rs2086536067
|
|
NM_003072.5(SMARCA4):c.1381A>C (p.Lys461Gln)
|
rs757516325
|
|
NM_003072.5(SMARCA4):c.1382A>G (p.Lys461Arg)
|
rs1568434007
|
|
NM_003072.5(SMARCA4):c.1384A>G (p.Ile462Val)
|
rs2086537587
|
|
NM_003072.5(SMARCA4):c.1386C>G (p.Ile462Met)
|
rs1265247876
|
|
NM_003072.5(SMARCA4):c.1387G>A (p.Glu463Lys)
|
|
|
NM_003072.5(SMARCA4):c.1398C>T (p.Arg466=)
|
rs2086538912
|
|
NM_003072.5(SMARCA4):c.1400A>G (p.Lys467Arg)
|
rs758203117
|
|
NM_003072.5(SMARCA4):c.1402C>T (p.Arg468Cys)
|
rs2145882413
|
|
NM_003072.5(SMARCA4):c.1405C>T (p.Arg469Trp)
|
rs1060502079
|
|
NM_003072.5(SMARCA4):c.1406G>A (p.Arg469Gln)
|
rs2145882558
|
|
NM_003072.5(SMARCA4):c.1409A>T (p.Gln470Leu)
|
|
|
NM_003072.5(SMARCA4):c.1416C>G (p.His472Gln)
|
rs2086540721
|
|
NM_003072.5(SMARCA4):c.1417C>G (p.Gln473Glu)
|
|
|
NM_003072.5(SMARCA4):c.1419+3A>G
|
rs2086541272
|
|
NM_003072.5(SMARCA4):c.1419+5dup
|
|
|
NM_003072.5(SMARCA4):c.1419+6C>G
|
rs1366466358
|
|
NM_003072.5(SMARCA4):c.1419G>A (p.Gln473=)
|
rs2086540879
|
|
NM_003072.5(SMARCA4):c.1420-3C>G
|
rs777295398
|
|
NM_003072.5(SMARCA4):c.1420-6C>A
|
rs878854200
|
|
NM_003072.5(SMARCA4):c.1422A>C (p.Glu474Asp)
|
rs2086879917
|
|
NM_003072.5(SMARCA4):c.1426C>T (p.Leu476Phe)
|
rs1600067548
|
|
NM_003072.5(SMARCA4):c.142G>C (p.Gly48Arg)
|
rs2085816935
|
|
NM_003072.5(SMARCA4):c.1432A>T (p.Ser478Cys)
|
rs1555761983
|
|
NM_003072.5(SMARCA4):c.1434C>A (p.Ser478Arg)
|
|
|
NM_003072.5(SMARCA4):c.1448C>T (p.Ala483Val)
|
|
|
NM_003072.5(SMARCA4):c.1451A>G (p.Lys484Arg)
|
|
|
NM_003072.5(SMARCA4):c.1458C>G (p.Phe486Leu)
|
rs1555762001
|
|
NM_003072.5(SMARCA4):c.1460A>G (p.Lys487Arg)
|
rs2086882004
|
|
NM_003072.5(SMARCA4):c.146C>T (p.Pro49Leu)
|
rs1464033862
|
|
NM_003072.5(SMARCA4):c.1475C>G (p.Ser492Cys)
|
rs2145938942
|
|
NM_003072.5(SMARCA4):c.1481C>T (p.Thr494Ile)
|
rs1060502098
|
|
NM_003072.5(SMARCA4):c.1483G>A (p.Gly495Ser)
|
rs1060502093
|
|
NM_003072.5(SMARCA4):c.1483G>T (p.Gly495Cys)
|
rs1060502093
|
|
NM_003072.5(SMARCA4):c.1487A>G (p.Lys496Arg)
|
|
|
NM_003072.5(SMARCA4):c.1488A>T (p.Lys496Asn)
|
|
|
NM_003072.5(SMARCA4):c.148C>T (p.Pro50Ser)
|
|
|
NM_003072.5(SMARCA4):c.1507G>A (p.Ala503Thr)
|
|
|
NM_003072.5(SMARCA4):c.1513G>A (p.Ala505Thr)
|
rs1555762079
|
|
NM_003072.5(SMARCA4):c.1514C>G (p.Ala505Gly)
|
rs1600068130
|
|
NM_003072.5(SMARCA4):c.1514C>T (p.Ala505Val)
|
|
|
NM_003072.5(SMARCA4):c.1523_1524delinsGC (p.His508Arg)
|
rs2145940710
|
|
NM_003072.5(SMARCA4):c.1526C>T (p.Ala509Val)
|
rs1600068270
|
|
NM_003072.5(SMARCA4):c.1529A>G (p.Asn510Ser)
|
rs2086886078
|
|
NM_003072.5(SMARCA4):c.152C>T (p.Ser51Leu)
|
|
|
NM_003072.5(SMARCA4):c.152CAG[1] (p.Ala52del)
|
|
|
NM_003072.5(SMARCA4):c.1532C>T (p.Thr511Met)
|
|
|
NM_003072.5(SMARCA4):c.1535A>T (p.Glu512Val)
|
|
|
NM_003072.5(SMARCA4):c.1537C>T (p.Arg513Trp)
|
rs1207620630
|
|
NM_003072.5(SMARCA4):c.154G>A (p.Ala52Thr)
|
rs1060502103
|
|
NM_003072.5(SMARCA4):c.1550A>G (p.Lys517Arg)
|
rs2086887157
|
|
NM_003072.5(SMARCA4):c.155C>T (p.Ala52Val)
|
|
|
NM_003072.5(SMARCA4):c.1561C>T (p.Arg521Trp)
|
rs2145942104
|
|
NM_003072.5(SMARCA4):c.1562G>A (p.Arg521Gln)
|
rs990869140
|
|
NM_003072.5(SMARCA4):c.1564A>G (p.Ile522Val)
|
rs1568440731
|
|
NM_003072.5(SMARCA4):c.1579A>C (p.Met527Leu)
|
rs2145942762
|
|
NM_003072.5(SMARCA4):c.1583G>A (p.Arg528Gln)
|
rs1555762188
|
|
NM_003072.5(SMARCA4):c.1593+3A>G
|
rs1555762222
|
|
NM_003072.5(SMARCA4):c.1593+3A>T
|
rs1555762222
|
|
NM_003072.5(SMARCA4):c.1593+4T>C
|
rs1060502072
|
|
NM_003072.5(SMARCA4):c.1593+6G>A
|
rs2145943465
|
|
NM_003072.5(SMARCA4):c.1594-3T>C
|
rs1600081783
|
|
NM_003072.5(SMARCA4):c.1594-5T>G
|
rs1223041498
|
|
NM_003072.5(SMARCA4):c.1608G>C (p.Glu536Asp)
|
|
|
NM_003072.5(SMARCA4):c.1615C>T (p.Arg539Cys)
|
|
|
NM_003072.5(SMARCA4):c.1616G>T (p.Arg539Leu)
|
rs1600081861
|
|
NM_003072.5(SMARCA4):c.1619A>G (p.Lys540Arg)
|
rs778357380
|
|
NM_003072.5(SMARCA4):c.161A>G (p.His54Arg)
|
rs1348866967
|
|
NM_003072.5(SMARCA4):c.1620G>T (p.Lys540Asn)
|
|
|
NM_003072.5(SMARCA4):c.1624A>G (p.Ile542Val)
|
rs2145969738
|
|
NM_003072.5(SMARCA4):c.162C>A (p.His54Gln)
|
rs1330092211
|
|
NM_003072.5(SMARCA4):c.163C>G (p.Pro55Ala)
|
rs1218848193
|
|
NM_003072.5(SMARCA4):c.164C>T (p.Pro55Leu)
|
rs747185602
|
|
NM_003072.5(SMARCA4):c.1651G>A (p.Ala551Thr)
|
|
|
NM_003072.5(SMARCA4):c.1651G>T (p.Ala551Ser)
|
rs2087031286
|
|
NM_003072.5(SMARCA4):c.1655A>G (p.Tyr552Cys)
|
rs2087031445
|
|
NM_003072.5(SMARCA4):c.1665G>T (p.Gln555His)
|
|
|
NM_003072.5(SMARCA4):c.1666C>G (p.Gln556Glu)
|
rs1555763642
|
|
NM_003072.5(SMARCA4):c.166A>G (p.Ile56Val)
|
rs2085819103
|
|
NM_003072.5(SMARCA4):c.1678T>C (p.Tyr560His)
|
|
|
NM_003072.5(SMARCA4):c.1693A>G (p.Thr565Ala)
|
rs765974121
|
|
NM_003072.5(SMARCA4):c.1694C>T (p.Thr565Met)
|
rs1600082359
|
|
NM_003072.5(SMARCA4):c.1696G>C (p.Glu566Gln)
|
|
|
NM_003072.5(SMARCA4):c.1699C>A (p.Leu567Met)
|
|
|
NM_003072.5(SMARCA4):c.1702G>A (p.Val568Met)
|
rs1431755388
|
|
NM_003072.5(SMARCA4):c.1705C>T (p.Arg569Trp)
|
rs141090393
|
|
NM_003072.5(SMARCA4):c.170C>A (p.Pro57His)
|
|
|
NM_003072.5(SMARCA4):c.170C>G (p.Pro57Arg)
|
rs1568417458
|
|
NM_003072.5(SMARCA4):c.170C>T (p.Pro57Leu)
|
rs1568417458
|
|
NM_003072.5(SMARCA4):c.1725G>C (p.Gln575His)
|
rs1441370371
|
|
NM_003072.5(SMARCA4):c.1725G>T (p.Gln575His)
|
rs1441370371
|
|
NM_003072.5(SMARCA4):c.1726G>T (p.Val576Phe)
|
rs1555763737
|
|
NM_003072.5(SMARCA4):c.1729G>A (p.Ala577Thr)
|
rs1369374541
|
|
NM_003072.5(SMARCA4):c.1729G>T (p.Ala577Ser)
|
rs1369374541
|
|
NM_003072.5(SMARCA4):c.1733A>G (p.Lys578Arg)
|
rs2145973682
|
|
NM_003072.5(SMARCA4):c.1735G>A (p.Glu579Lys)
|
rs2145973734
|
|
NM_003072.5(SMARCA4):c.1739A>T (p.Lys580Ile)
|
|
|
NM_003072.5(SMARCA4):c.173C>T (p.Thr58Ile)
|
rs1555750978
|
|
NM_003072.5(SMARCA4):c.1743GAA[1] (p.Lys588del)
|
rs747503505
|
|
NM_003072.5(SMARCA4):c.1748A>C (p.Lys583Thr)
|
rs1043517699
|
|
NM_003072.5(SMARCA4):c.1749AAAGAA[1] (p.Lys587_Lys588del)
|
rs1600082918
|
|
NM_003072.5(SMARCA4):c.1749AAAGAA[3] (p.Lys587_Lys588dup)
|
rs1600082918
|
|
NM_003072.5(SMARCA4):c.1751A>G (p.Lys584Arg)
|
rs2087041246
|
|
NM_003072.5(SMARCA4):c.1753A>G (p.Lys585Glu)
|
rs2087041445
|
|
NM_003072.5(SMARCA4):c.1756A>C (p.Lys586Gln)
|
rs2145974399
|
|
NM_003072.5(SMARCA4):c.1756AAG[2] (p.Lys588del)
|
rs1429065030
|
|
NM_003072.5(SMARCA4):c.1759A>G (p.Lys587Glu)
|
|
|
NM_003072.5(SMARCA4):c.1761+3G>A
|
rs2087043325
|
|
NM_003072.5(SMARCA4):c.1761+5G>A
|
rs1555763822
|
|
NM_003072.5(SMARCA4):c.1761G>A (p.Lys587=)
|
|
|
NM_003072.5(SMARCA4):c.1762-10C>G
|
rs754221543
|
|
NM_003072.5(SMARCA4):c.1762-1G>A
|
rs2145980126
|
|
NM_003072.5(SMARCA4):c.1762-3C>T
|
|
|
NM_003072.5(SMARCA4):c.1762A>G (p.Lys588Glu)
|
|
|
NM_003072.5(SMARCA4):c.1763A>C (p.Lys588Thr)
|
|
|
NM_003072.5(SMARCA4):c.1765G>T (p.Ala589Ser)
|
rs765850087
|
|
NM_003072.5(SMARCA4):c.1766C>T (p.Ala589Val)
|
rs1555763943
|
|
NM_003072.5(SMARCA4):c.1772A>G (p.Asn591Ser)
|
|
|
NM_003072.5(SMARCA4):c.1775C>G (p.Ala592Gly)
|
rs1060502064
|
|
NM_003072.5(SMARCA4):c.1775C>T (p.Ala592Val)
|
rs1060502064
|
|
NM_003072.5(SMARCA4):c.1777G>A (p.Glu593Lys)
|
rs1555763975
|
|
NM_003072.5(SMARCA4):c.1777G>C (p.Glu593Gln)
|
|
|
NM_003072.5(SMARCA4):c.1778_1780del (p.Glu593del)
|
rs1484395538
|
|
NM_003072.5(SMARCA4):c.177G>A (p.Gln59=)
|
rs868608270
|
|
NM_003072.5(SMARCA4):c.1780G>A (p.Gly594Arg)
|
rs2145980749
|
|
NM_003072.5(SMARCA4):c.1784A>G (p.Gln595Arg)
|
|
|
NM_003072.5(SMARCA4):c.1784A>T (p.Gln595Leu)
|
rs2087065585
|
|
NM_003072.5(SMARCA4):c.1787C>A (p.Thr596Lys)
|
rs779952581
|
|
NM_003072.5(SMARCA4):c.1789C>A (p.Pro597Thr)
|
|
|
NM_003072.5(SMARCA4):c.1789C>G (p.Pro597Ala)
|
rs1060502097
|
|
NM_003072.5(SMARCA4):c.1789C>T (p.Pro597Ser)
|
rs1060502097
|
|
NM_003072.5(SMARCA4):c.1792G>A (p.Ala598Thr)
|
|
|
NM_003072.5(SMARCA4):c.1799G>A (p.Gly600Glu)
|
rs2145981386
|
|
NM_003072.5(SMARCA4):c.179G>T (p.Gly60Val)
|
|
|
NM_003072.5(SMARCA4):c.17C>A (p.Pro6Gln)
|
rs750113056
|
|
NM_003072.5(SMARCA4):c.1802C>T (p.Pro601Leu)
|
rs777544121
|
|
NM_003072.5(SMARCA4):c.1804G>A (p.Asp602Asn)
|
rs2087068449
|
|
NM_003072.5(SMARCA4):c.1805A>T (p.Asp602Val)
|
rs2087068642
|
|
NM_003072.5(SMARCA4):c.1812+2dup
|
rs2087069139
|
|
NM_003072.5(SMARCA4):c.1813-6_1813-4del
|
rs1864896196
|
|
NM_003072.5(SMARCA4):c.1813C>T (p.Pro605Ser)
|
rs1373012344
|
|
NM_003072.5(SMARCA4):c.1816C>G (p.Leu606Val)
|
rs1600132404
|
|
NM_003072.5(SMARCA4):c.1818G>A (p.Leu606=)
|
rs2146094508
|
|
NM_003072.5(SMARCA4):c.181C>T (p.Pro61Ser)
|
rs1555751015
|
|
NM_003072.5(SMARCA4):c.1820A>T (p.Asp607Val)
|
rs1600132436
|
|
NM_003072.5(SMARCA4):c.1822G>A (p.Glu608Lys)
|
rs2087806416
|
|
NM_003072.5(SMARCA4):c.182C>T (p.Pro61Leu)
|
rs2085820972
|
|
NM_003072.5(SMARCA4):c.1832A>T (p.Gln611Leu)
|
rs1600132569
|
|
NM_003072.5(SMARCA4):c.1836G>A (p.Met612Ile)
|
rs1600132619
|
|
NM_003072.5(SMARCA4):c.1856T>C (p.Val619Ala)
|
rs2087809409
|
|
NM_003072.5(SMARCA4):c.1860C>G (p.Ile620Met)
|
rs141751028
|
|
NM_003072.5(SMARCA4):c.1861C>G (p.His621Asp)
|
rs2087809994
|
|
NM_003072.5(SMARCA4):c.1875G>T (p.Gly625=)
|
rs2087810760
|
|
NM_003072.5(SMARCA4):c.1877A>G (p.Lys626Arg)
|
rs2146096765
|
|
NM_003072.5(SMARCA4):c.1880T>C (p.Ile627Thr)
|
rs2087810954
|
|
NM_003072.5(SMARCA4):c.1881C>G (p.Ile627Met)
|
rs1451914629
|
|
NM_003072.5(SMARCA4):c.1882C>A (p.Leu628Ile)
|
rs1555768351
|
|
NM_003072.5(SMARCA4):c.1882C>T (p.Leu628Phe)
|
rs1555768351
|
|
NM_003072.5(SMARCA4):c.1885A>G (p.Thr629Ala)
|
rs2087811842
|
|
NM_003072.5(SMARCA4):c.1886C>A (p.Thr629Lys)
|
|
|
NM_003072.5(SMARCA4):c.1886C>G (p.Thr629Arg)
|
|
|
NM_003072.5(SMARCA4):c.1892C>T (p.Thr631Ile)
|
rs1555768365
|
|
NM_003072.5(SMARCA4):c.1894G>A (p.Asp632Asn)
|
|
|
NM_003072.5(SMARCA4):c.1896T>A (p.Asp632Glu)
|
|
|
NM_003072.5(SMARCA4):c.1896T>G (p.Asp632Glu)
|
rs1060502055
|
|
NM_003072.5(SMARCA4):c.1897G>A (p.Ala633Thr)
|
rs1555768376
|
|
NM_003072.5(SMARCA4):c.1897G>T (p.Ala633Ser)
|
rs1555768376
|
|
NM_003072.5(SMARCA4):c.1897_1898delinsAT (p.Ala633Ile)
|
rs1600133041
|
|
NM_003072.5(SMARCA4):c.1904A>G (p.Lys635Arg)
|
rs1600133088
|
|
NM_003072.5(SMARCA4):c.1906G>C (p.Ala636Pro)
|
rs1600133106
|
|
NM_003072.5(SMARCA4):c.1908C>A (p.Ala636=)
|
rs548456029
|
|
NM_003072.5(SMARCA4):c.1909G>T (p.Gly637Trp)
|
rs917552239
|
|
NM_003072.5(SMARCA4):c.1914G>T (p.Gln638His)
|
rs1555768426
|
|
NM_003072.5(SMARCA4):c.191A>G (p.Tyr64Cys)
|
rs1599930186
|
|
NM_003072.5(SMARCA4):c.191A>T (p.Tyr64Phe)
|
rs1599930186
|
|
NM_003072.5(SMARCA4):c.1920G>T (p.Glu640Asp)
|
|
|
NM_003072.5(SMARCA4):c.1921G>A (p.Ala641Thr)
|
rs2146098679
|
|
NM_003072.5(SMARCA4):c.1933A>G (p.Met645Val)
|
rs763375817
|
|
NM_003072.5(SMARCA4):c.1934T>G (p.Met645Arg)
|
rs2087816849
|
|
NM_003072.5(SMARCA4):c.193C>G (p.Pro65Ala)
|
|
|
NM_003072.5(SMARCA4):c.1943+3G>A
|
|
|
NM_003072.5(SMARCA4):c.1943+3G>C
|
rs1600133534
|
|
NM_003072.5(SMARCA4):c.1943G>C (p.Gly648Ala)
|
|
|
NM_003072.5(SMARCA4):c.1944-12C>A
|
rs149763341
|
|
NM_003072.5(SMARCA4):c.1946A>T (p.Tyr649Phe)
|
rs2146108000
|
|
NM_003072.5(SMARCA4):c.194C>T (p.Pro65Leu)
|
rs1568417564
|
|
NM_003072.5(SMARCA4):c.1964C>T (p.Ser655Phe)
|
rs1555768701
|
|
NM_003072.5(SMARCA4):c.1969A>G (p.Ser657Gly)
|
rs1600135788
|
|
NM_003072.5(SMARCA4):c.1976A>G (p.Glu659Gly)
|
|
|
NM_003072.5(SMARCA4):c.1977A>C (p.Glu659Asp)
|
|
|
NM_003072.5(SMARCA4):c.1978A>C (p.Ser660Arg)
|
rs2087846584
|
|
NM_003072.5(SMARCA4):c.1979G>C (p.Ser660Thr)
|
rs1600135848
|
|
NM_003072.5(SMARCA4):c.1981G>A (p.Gly661Ser)
|
|
|
NM_003072.5(SMARCA4):c.1982G>T (p.Gly661Val)
|
rs367689657
|
|
NM_003072.5(SMARCA4):c.1985C>T (p.Ser662Leu)
|
rs1060502104
|
|
NM_003072.5(SMARCA4):c.1986AGA[2] (p.Glu672del)
|
|
|
NM_003072.5(SMARCA4):c.1988A>G (p.Glu663Gly)
|
rs2146109504
|
|
NM_003072.5(SMARCA4):c.1994A>C (p.Glu665Ala)
|
rs754483795
|
|
NM_003072.5(SMARCA4):c.1994A>G (p.Glu665Gly)
|
|
|
NM_003072.5(SMARCA4):c.199G>A (p.Asp67Asn)
|
rs2085821918
|
|
NM_003072.5(SMARCA4):c.19C>G (p.Pro7Ala)
|
|
|
NM_003072.5(SMARCA4):c.2001+4A>G
|
rs1343722342
|
|
NM_003072.5(SMARCA4):c.2001+6A>G
|
|
|
NM_003072.5(SMARCA4):c.2001+6_2001+7del
|
rs2087849684
|
|
NM_003072.5(SMARCA4):c.2001G>A (p.Glu667=)
|
rs1600136048
|
|
NM_003072.5(SMARCA4):c.2001G>C (p.Glu667Asp)
|
|
|
NM_003072.5(SMARCA4):c.2002G>A (p.Glu668Lys)
|
rs1060502105
|
|
NM_003072.5(SMARCA4):c.2002G>C (p.Glu668Gln)
|
rs1060502105
|
|
NM_003072.5(SMARCA4):c.2006A>G (p.Glu669Gly)
|
|
|
NM_003072.5(SMARCA4):c.2006A>T (p.Glu669Val)
|
rs1600167346
|
|
NM_003072.5(SMARCA4):c.2008G>C (p.Glu670Gln)
|
rs1222324445
|
|
NM_003072.5(SMARCA4):c.2014G>A (p.Glu672Lys)
|
rs2088394203
|
|
NM_003072.5(SMARCA4):c.2015A>T (p.Glu672Val)
|
rs1600167444
|
|
NM_003072.5(SMARCA4):c.2016G>C (p.Glu672Asp)
|
rs772356536
|
|
NM_003072.5(SMARCA4):c.2017C>G (p.Gln673Glu)
|
|
|
NM_003072.5(SMARCA4):c.2023C>G (p.Gln675Glu)
|
rs2146190601
|
|
NM_003072.5(SMARCA4):c.2024A>T (p.Gln675Leu)
|
rs1299276425
|
|
NM_003072.5(SMARCA4):c.2026G>A (p.Ala676Thr)
|
rs2146190685
|
|
NM_003072.5(SMARCA4):c.2027C>T (p.Ala676Val)
|
|
|
NM_003072.5(SMARCA4):c.2029G>A (p.Ala677Thr)
|
rs2088396631
|
|
NM_003072.5(SMARCA4):c.2033A>T (p.Gln678Leu)
|
|
|
NM_003072.5(SMARCA4):c.2035C>G (p.Pro679Ala)
|
rs770115402
|
|
NM_003072.5(SMARCA4):c.2036C>G (p.Pro679Arg)
|
rs1555771583
|
|
NM_003072.5(SMARCA4):c.2036C>T (p.Pro679Leu)
|
rs1555771583
|
|
NM_003072.5(SMARCA4):c.2039C>A (p.Pro680His)
|
|
|
NM_003072.5(SMARCA4):c.2039C>T (p.Pro680Leu)
|
rs1600167712
|
|
NM_003072.5(SMARCA4):c.203A>G (p.Asn68Ser)
|
rs2145726484
|
|
NM_003072.5(SMARCA4):c.2042C>T (p.Thr681Ile)
|
rs2088398438
|
|
NM_003072.5(SMARCA4):c.2044C>A (p.Leu682Met)
|
rs773252889
|
|
NM_003072.5(SMARCA4):c.2048C>G (p.Pro683Arg)
|
rs878854203
|
|
NM_003072.5(SMARCA4):c.2048C>T (p.Pro683Leu)
|
rs878854203
|
|
NM_003072.5(SMARCA4):c.2051T>C (p.Val684Ala)
|
rs979444190
|
|
NM_003072.5(SMARCA4):c.2053GAG[1] (p.Glu686del)
|
|
|
NM_003072.5(SMARCA4):c.2056G>A (p.Glu686Lys)
|
rs1555771625
|
|
NM_003072.5(SMARCA4):c.2057A>G (p.Glu686Gly)
|
rs924158571
|
|
NM_003072.5(SMARCA4):c.2057AGA[3] (p.Lys689del)
|
rs765524239
|
|
NM_003072.5(SMARCA4):c.2059A>G (p.Lys687Glu)
|
rs751565055
|
|
NM_003072.5(SMARCA4):c.2061G>T (p.Lys687Asn)
|
|
|
NM_003072.5(SMARCA4):c.2069T>C (p.Ile690Thr)
|
|
|
NM_003072.5(SMARCA4):c.2071C>T (p.Pro691Ser)
|
|
|
NM_003072.5(SMARCA4):c.2072C>T (p.Pro691Leu)
|
rs2146192320
|
|
NM_003072.5(SMARCA4):c.2078C>G (p.Pro693Arg)
|
rs2088404188
|
|
NM_003072.5(SMARCA4):c.207G>A (p.Met69Ile)
|
rs754815286
|
|
NM_003072.5(SMARCA4):c.207G>T (p.Met69Ile)
|
rs754815286
|
|
NM_003072.5(SMARCA4):c.2082C>G (p.Asp694Glu)
|
rs373420556
|
|
NM_003072.5(SMARCA4):c.2083A>G (p.Ser695Gly)
|
rs2088404711
|
|
NM_003072.5(SMARCA4):c.2084G>A (p.Ser695Asn)
|
rs755519197
|
|
NM_003072.5(SMARCA4):c.2088T>A (p.Asp696Glu)
|
rs1600168312
|
|
NM_003072.5(SMARCA4):c.208C>G (p.His70Asp)
|
rs1266506498
|
|
NM_003072.5(SMARCA4):c.2092G>A (p.Val698Ile)
|
rs1600168349
|
|
NM_003072.5(SMARCA4):c.2096C>G (p.Ser699Cys)
|
rs2088406134
|
|
NM_003072.5(SMARCA4):c.209A>C (p.His70Pro)
|
rs1568417600
|
|
NM_003072.5(SMARCA4):c.20C>A (p.Pro7His)
|
rs1568416569
|
|
NM_003072.5(SMARCA4):c.20C>G (p.Pro7Arg)
|
rs1568416569
|
|
NM_003072.5(SMARCA4):c.2102T>G (p.Val701Gly)
|
rs1307425251
|
|
NM_003072.5(SMARCA4):c.2104G>T (p.Asp702Tyr)
|
|
|
NM_003072.5(SMARCA4):c.2107G>A (p.Ala703Thr)
|
rs1555771662
|
|
NM_003072.5(SMARCA4):c.2107G>T (p.Ala703Ser)
|
rs1555771662
|
|
NM_003072.5(SMARCA4):c.2108C>T (p.Ala703Val)
|
rs550731833
|
|
NM_003072.5(SMARCA4):c.210C>A (p.His70Gln)
|
rs1599930337
|
|
NM_003072.5(SMARCA4):c.2111G>A (p.Arg704Gln)
|
rs1248744047
|
|
NM_003072.5(SMARCA4):c.2119_2121del (p.Ile707del)
|
rs1555771687
|
|
NM_003072.5(SMARCA4):c.2120T>C (p.Ile707Thr)
|
|
|
NM_003072.5(SMARCA4):c.2124-3C>T
|
rs1555773222
|
|
NM_003072.5(SMARCA4):c.212A>G (p.Gln71Arg)
|
|
|
NM_003072.5(SMARCA4):c.212_214dup (p.Gln71_Met72insLys)
|
rs1555751056
|
|
NM_003072.5(SMARCA4):c.2132A>G (p.Lys711Arg)
|
rs1555773235
|
|
NM_003072.5(SMARCA4):c.2132A>T (p.Lys711Met)
|
rs1555773235
|
|
NM_003072.5(SMARCA4):c.213G>C (p.Gln71His)
|
rs1489673789
|
|
NM_003072.5(SMARCA4):c.2140G>A (p.Val714Ile)
|
rs2088711962
|
|
NM_003072.5(SMARCA4):c.2155G>A (p.Gly719Ser)
|
|
|
NM_003072.5(SMARCA4):c.2155G>C (p.Gly719Arg)
|
rs2088712670
|
|
NM_003072.5(SMARCA4):c.2156G>C (p.Gly719Ala)
|
|
|
NM_003072.5(SMARCA4):c.2158G>A (p.Val720Met)
|
rs1555773256
|
|
NM_003072.5(SMARCA4):c.2162_2163delinsGT (p.Ser721Cys)
|
|
|
NM_003072.5(SMARCA4):c.2165A>G (p.Gln722Arg)
|
|
|
NM_003072.5(SMARCA4):c.216G>A (p.Met72Ile)
|
rs1568417674
|
|
NM_003072.5(SMARCA4):c.2170C>G (p.Leu724Val)
|
rs2088715054
|
|
NM_003072.5(SMARCA4):c.2173G>C (p.Ala725Pro)
|
rs2146235353
|
|
NM_003072.5(SMARCA4):c.2187G>T (p.Gln729His)
|
rs2146236007
|
|
NM_003072.5(SMARCA4):c.218A>T (p.His73Leu)
|
rs748147246
|
|
NM_003072.5(SMARCA4):c.2212G>T (p.Val738Phe)
|
rs370273427
|
|
NM_003072.5(SMARCA4):c.2215A>G (p.Thr739Ala)
|
rs2146237158
|
|
NM_003072.5(SMARCA4):c.2216C>G (p.Thr739Ser)
|
rs2088718305
|
|
NM_003072.5(SMARCA4):c.2216C>T (p.Thr739Ile)
|
|
|
NM_003072.5(SMARCA4):c.222+3A>G
|
rs2145727267
|
|
NM_003072.5(SMARCA4):c.222+5G>A
|
rs1555751086
|
|
NM_003072.5(SMARCA4):c.222+5G>C
|
rs1555751086
|
|
NM_003072.5(SMARCA4):c.222+6G>T
|
rs769669992
|
|
NM_003072.5(SMARCA4):c.222+6del
|
|
|
NM_003072.5(SMARCA4):c.2221A>G (p.Arg741Gly)
|
rs1555773339
|
|
NM_003072.5(SMARCA4):c.2227G>A (p.Asp743Asn)
|
rs2146237488
|
|
NM_003072.5(SMARCA4):c.2230A>G (p.Lys744Glu)
|
rs771723542
|
|
NM_003072.5(SMARCA4):c.2232G>C (p.Lys744Asn)
|
rs886054153
|
|
NM_003072.5(SMARCA4):c.2242C>T (p.Leu748Phe)
|
rs2088720910
|
|
NM_003072.5(SMARCA4):c.2246T>C (p.Met749Thr)
|
rs1555773400
|
|
NM_003072.5(SMARCA4):c.2247G>C (p.Met749Ile)
|
rs2088721594
|
|
NM_003072.5(SMARCA4):c.2248G>T (p.Val750Phe)
|
|
|
NM_003072.5(SMARCA4):c.2248_2249insGGG (p.Met749_Val750insGly)
|
rs2088721909
|
|
NM_003072.5(SMARCA4):c.2249T>A (p.Val750Asp)
|
rs572673381
|
|
NM_003072.5(SMARCA4):c.2255G>A (p.Gly752Asp)
|
rs2088722543
|
|
NM_003072.5(SMARCA4):c.226A>G (p.Met76Val)
|
rs1225673675
|
|
NM_003072.5(SMARCA4):c.2274+12G>T
|
|
|
NM_003072.5(SMARCA4):c.2274+5G>A
|
rs775519333
|
|
NM_003072.5(SMARCA4):c.2275-3C>G
|
rs117611401
|
|
NM_003072.5(SMARCA4):c.2275-3C>T
|
rs117611401
|
|
NM_003072.5(SMARCA4):c.2276T>C (p.Ile759Thr)
|
rs878854206
|
|
NM_003072.5(SMARCA4):c.2279A>C (p.Lys760Thr)
|
rs2088998992
|
|
NM_003072.5(SMARCA4):c.2279A>G (p.Lys760Arg)
|
|
|
NM_003072.5(SMARCA4):c.227T>C (p.Met76Thr)
|
rs1599940473
|
|
NM_003072.5(SMARCA4):c.2281_2282delinsAA (p.Gly761Asn)
|
|
|
NM_003072.5(SMARCA4):c.228G>C (p.Met76Ile)
|
rs2085924643
|
|
NM_003072.5(SMARCA4):c.229_237del (p.Glu77_Met79del)
|
|
|
NM_003072.5(SMARCA4):c.22C>A (p.Leu8Met)
|
|
|
NM_003072.5(SMARCA4):c.2310C>A (p.Asn770Lys)
|
rs2146277679
|
|
NM_003072.5(SMARCA4):c.2314A>G (p.Asn772Asp)
|
rs2146277781
|
|
NM_003072.5(SMARCA4):c.2323G>A (p.Gly775Ser)
|
|
|
NM_003072.5(SMARCA4):c.232T>C (p.Ser78Pro)
|
rs878854207
|
|
NM_003072.5(SMARCA4):c.232T>G (p.Ser78Ala)
|
rs878854207
|
|
NM_003072.5(SMARCA4):c.2338G>A (p.Glu780Lys)
|
|
|
NM_003072.5(SMARCA4):c.233C>A (p.Ser78Tyr)
|
rs1555751949
|
|
NM_003072.5(SMARCA4):c.233C>T (p.Ser78Phe)
|
rs1555751949
|
|
NM_003072.5(SMARCA4):c.2341A>T (p.Met781Leu)
|
|
|
NM_003072.5(SMARCA4):c.235A>T (p.Met79Leu)
|
rs767638396
|
|
NM_003072.5(SMARCA4):c.2363A>G (p.Gln788Arg)
|
|
|
NM_003072.5(SMARCA4):c.2368A>G (p.Ile790Val)
|
|
|
NM_003072.5(SMARCA4):c.236T>C (p.Met79Thr)
|
|
|
NM_003072.5(SMARCA4):c.2371G>A (p.Ala791Thr)
|
|
|
NM_003072.5(SMARCA4):c.2372C>T (p.Ala791Val)
|
rs1263140481
|
|
NM_003072.5(SMARCA4):c.2374C>G (p.Leu792Val)
|
rs2146279816
|
|
NM_003072.5(SMARCA4):c.2380A>T (p.Thr794Ser)
|
rs2089006879
|
|
NM_003072.5(SMARCA4):c.2381C>T (p.Thr794Met)
|
rs1193519882
|
|
NM_003072.5(SMARCA4):c.2394G>T (p.Glu798Asp)
|
rs1555774749
|
|
NM_003072.5(SMARCA4):c.239A>G (p.His80Arg)
|
rs2145748661
|
|
NM_003072.5(SMARCA4):c.239A>T (p.His80Leu)
|
|
|
NM_003072.5(SMARCA4):c.2401C>T (p.Arg801Cys)
|
rs2089008771
|
|
NM_003072.5(SMARCA4):c.2402G>A (p.Arg801His)
|
rs1568471266
|
|
NM_003072.5(SMARCA4):c.2404A>C (p.Ile802Leu)
|
rs1454445195
|
|
NM_003072.5(SMARCA4):c.2407A>T (p.Asn803Tyr)
|
rs2089009656
|
|
NM_003072.5(SMARCA4):c.2408A>G (p.Asn803Ser)
|
rs2146280868
|
|
NM_003072.5(SMARCA4):c.2416T>A (p.Phe806Ile)
|
rs2089010016
|
|
NM_003072.5(SMARCA4):c.2418C>A (p.Phe806Leu)
|
rs770432256
|
|
NM_003072.5(SMARCA4):c.2423T>G (p.Ile808Ser)
|
|
|
NM_003072.5(SMARCA4):c.2425A>G (p.Ile809Val)
|
|
|
NM_003072.5(SMARCA4):c.2428G>T (p.Val810Leu)
|
rs1060502056
|
|
NM_003072.5(SMARCA4):c.2438+3G>T
|
rs759309497
|
|
NM_003072.5(SMARCA4):c.243G>T (p.Glu81Asp)
|
rs1060504435
|
|
NM_003072.5(SMARCA4):c.2441C>T (p.Thr814Met)
|
rs2089620653
|
|
NM_003072.5(SMARCA4):c.2450A>G (p.Asn817Ser)
|
rs2146359567
|
|
NM_003072.5(SMARCA4):c.2455G>A (p.Ala819Thr)
|
rs767743765
|
|
NM_003072.5(SMARCA4):c.245A>G (p.Lys82Arg)
|
rs2085926327
|
|
NM_003072.5(SMARCA4):c.2469C>G (p.Asp823Glu)
|
rs1568481575
|
|
NM_003072.5(SMARCA4):c.2471A>G (p.Lys824Arg)
|
rs2089622665
|
|
NM_003072.5(SMARCA4):c.2471A>T (p.Lys824Met)
|
rs2089622665
|
|
NM_003072.5(SMARCA4):c.2476G>T (p.Ala826Ser)
|
rs1057524313
|
|
NM_003072.5(SMARCA4):c.2480C>T (p.Pro827Leu)
|
rs2089623348
|
|
NM_003072.5(SMARCA4):c.2485G>A (p.Val829Met)
|
rs1338927115
|
|
NM_003072.5(SMARCA4):c.2488G>A (p.Val830Met)
|
|
|
NM_003072.5(SMARCA4):c.2492A>G (p.Lys831Arg)
|
rs2089624620
|
|
NM_003072.5(SMARCA4):c.2497T>A (p.Ser833Thr)
|
|
|
NM_003072.5(SMARCA4):c.2504A>G (p.Lys835Arg)
|
rs2089625509
|
|
NM_003072.5(SMARCA4):c.2505+6T>C
|
rs1255103191
|
|
NM_003072.5(SMARCA4):c.2506-6T>G
|
|
|
NM_003072.5(SMARCA4):c.2506G>C (p.Gly836Arg)
|
rs2089678643
|
|
NM_003072.5(SMARCA4):c.250A>G (p.Met84Val)
|
rs1568419761
|
|
NM_003072.5(SMARCA4):c.250A>T (p.Met84Leu)
|
rs1568419761
|
|
NM_003072.5(SMARCA4):c.2510C>G (p.Ser837Cys)
|
rs2146372900
|
|
NM_003072.5(SMARCA4):c.2513C>T (p.Pro838Leu)
|
rs2089678940
|
|
NM_003072.5(SMARCA4):c.2515G>A (p.Ala839Thr)
|
rs2089679090
|
|
NM_003072.5(SMARCA4):c.2524C>T (p.Arg842Trp)
|
|
|
NM_003072.5(SMARCA4):c.2527G>A (p.Ala843Thr)
|
rs2146373575
|
|
NM_003072.5(SMARCA4):c.2530T>G (p.Phe844Val)
|
|
|
NM_003072.5(SMARCA4):c.2533G>T (p.Val845Phe)
|
rs878854210
|
|
NM_003072.5(SMARCA4):c.2536C>G (p.Pro846Ala)
|
rs2089681158
|
|
NM_003072.5(SMARCA4):c.2536C>T (p.Pro846Ser)
|
|
|
NM_003072.5(SMARCA4):c.2540A>G (p.Gln847Arg)
|
rs2089681473
|
|
NM_003072.5(SMARCA4):c.2545C>A (p.Arg849=)
|
rs1600257935
|
|
NM_003072.5(SMARCA4):c.2545C>T (p.Arg849Trp)
|
rs1600257935
|
|
NM_003072.5(SMARCA4):c.2546G>A (p.Arg849Gln)
|
rs1213692147
|
|
NM_003072.5(SMARCA4):c.2553G>T (p.Gly851=)
|
rs1167535267
|
|
NM_003072.5(SMARCA4):c.2561A>G (p.Asn854Ser)
|
|
|
NM_003072.5(SMARCA4):c.2563G>A (p.Val855Ile)
|
rs1600258142
|
|
NM_003072.5(SMARCA4):c.2573C>T (p.Thr858Met)
|
rs1480398200
|
|
NM_003072.5(SMARCA4):c.257A>G (p.Asp86Gly)
|
rs2145749357
|
|
NM_003072.5(SMARCA4):c.2585A>G (p.Tyr862Cys)
|
|
|
NM_003072.5(SMARCA4):c.2587A>G (p.Ile863Val)
|
|
|
NM_003072.5(SMARCA4):c.2597A>G (p.Asp866Gly)
|
|
|
NM_003072.5(SMARCA4):c.2598C>A (p.Asp866Glu)
|
|
|
NM_003072.5(SMARCA4):c.259G>A (p.Asp87Asn)
|
rs1366085446
|
|
NM_003072.5(SMARCA4):c.259G>C (p.Asp87His)
|
rs1366085446
|
|
NM_003072.5(SMARCA4):c.259G>T (p.Asp87Tyr)
|
rs1366085446
|
|
NM_003072.5(SMARCA4):c.2600A>G (p.Lys867Arg)
|
rs1555777820
|
|
NM_003072.5(SMARCA4):c.2605A>G (p.Ile869Val)
|
rs2146376383
|
|
NM_003072.5(SMARCA4):c.2607C>G (p.Ile869Met)
|
|
|
NM_003072.5(SMARCA4):c.2611G>A (p.Ala871Thr)
|
rs765073845
|
|
NM_003072.5(SMARCA4):c.2616+2_2616+5dup
|
rs1555777830
|
|
NM_003072.5(SMARCA4):c.2616+4A>G
|
rs1375792226
|
|
NM_003072.5(SMARCA4):c.2616+6G>T
|
rs766415751
|
|
NM_003072.5(SMARCA4):c.2616G>A (p.Lys872=)
|
|
|
NM_003072.5(SMARCA4):c.2617-15C>G
|
|
|
NM_003072.5(SMARCA4):c.2617-4G>T
|
rs201020451
|
|
NM_003072.5(SMARCA4):c.2617A>G (p.Ile873Val)
|
rs2146414847
|
|
NM_003072.5(SMARCA4):c.2621G>A (p.Arg874His)
|
rs1378511462
|
|
NM_003072.5(SMARCA4):c.2627A>G (p.Lys876Arg)
|
rs1600277756
|
|
NM_003072.5(SMARCA4):c.2629T>C (p.Tyr877His)
|
rs1555778688
|
|
NM_003072.5(SMARCA4):c.2629T>G (p.Tyr877Asp)
|
rs1555778688
|
|
NM_003072.5(SMARCA4):c.262C>A (p.Pro88Thr)
|
rs1555751997
|
|
NM_003072.5(SMARCA4):c.262C>T (p.Pro88Ser)
|
|
|
NM_003072.5(SMARCA4):c.2636T>C (p.Ile879Thr)
|
rs1600277882
|
|
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val)
|
rs2146416371
|
|
NM_003072.5(SMARCA4):c.2658G>A (p.Met886Ile)
|
|
|
NM_003072.5(SMARCA4):c.265C>T (p.Arg89Cys)
|
rs1568419849
|
|
NM_003072.5(SMARCA4):c.2665C>T (p.His889Tyr)
|
rs2146416653
|
|
NM_003072.5(SMARCA4):c.266G>T (p.Arg89Leu)
|
rs1599941069
|
|
NM_003072.5(SMARCA4):c.2670C>G (p.His890Gln)
|
|
|
NM_003072.5(SMARCA4):c.2688G>A (p.Val896=)
|
|
|
NM_003072.5(SMARCA4):c.2695A>T (p.Thr899Ser)
|
rs2146417780
|
|
NM_003072.5(SMARCA4):c.2696C>T (p.Thr899Met)
|
rs1401056652
|
|
NM_003072.5(SMARCA4):c.2699A>G (p.His900Arg)
|
rs1600278214
|
|
NM_003072.5(SMARCA4):c.26G>A (p.Gly9Asp)
|
rs2145720650
|
|
NM_003072.5(SMARCA4):c.2702A>G (p.Tyr901Cys)
|
|
|
NM_003072.5(SMARCA4):c.2704G>A (p.Val902Met)
|
rs1600278307
|
|
NM_003072.5(SMARCA4):c.2710C>T (p.Pro904Ser)
|
|
|
NM_003072.5(SMARCA4):c.2713C>G (p.Arg905Gly)
|
|
|
NM_003072.5(SMARCA4):c.2713C>T (p.Arg905Cys)
|
rs1555778721
|
|
NM_003072.5(SMARCA4):c.2717G>A (p.Arg906His)
|
rs2089896271
|
|
NM_003072.5(SMARCA4):c.2729C>T (p.Thr910Met)
|
rs1238758086
|
|
NM_003072.5(SMARCA4):c.272A>G (p.Asn91Ser)
|
|
|
NM_003072.5(SMARCA4):c.2734A>G (p.Thr912Ala)
|
|
|
NM_003072.5(SMARCA4):c.2735C>T (p.Thr912Ile)
|
rs1600278606
|
|
NM_003072.5(SMARCA4):c.273C>A (p.Asn91Lys)
|
|
|
NM_003072.5(SMARCA4):c.274C>G (p.Gln92Glu)
|
|
|
NM_003072.5(SMARCA4):c.2750A>G (p.Lys917Arg)
|
rs771165740
|
|
NM_003072.5(SMARCA4):c.275_276delinsCC (p.Gln92Pro)
|
rs2085928938
|
|
NM_003072.5(SMARCA4):c.2777A>G (p.Asn926Ser)
|
rs1555778797
|
|
NM_003072.5(SMARCA4):c.277A>T (p.Met93Leu)
|
rs777647740
|
|
NM_003072.5(SMARCA4):c.2783T>C (p.Leu928Pro)
|
rs1555778801
|
|
NM_003072.5(SMARCA4):c.279G>A (p.Met93Ile)
|
rs2145750364
|
|
NM_003072.5(SMARCA4):c.2810G>A (p.Ser937Asn)
|
rs981910345
|
|
NM_003072.5(SMARCA4):c.2818G>A (p.Glu940Lys)
|
rs1568487189
|
|
NM_003072.5(SMARCA4):c.2833G>A (p.Ala945Thr)
|
rs1445478818
|
|
NM_003072.5(SMARCA4):c.2845A>T (p.Met949Leu)
|
rs2146423428
|
|
NM_003072.5(SMARCA4):c.284G>A (p.Gly95Glu)
|
|
|
NM_003072.5(SMARCA4):c.2852G>A (p.Gly951Glu)
|
rs2146423728
|
|
NM_003072.5(SMARCA4):c.2858A>G (p.Lys953Arg)
|
rs1256465004
|
|
NM_003072.5(SMARCA4):c.2859+3G>A
|
rs2089905213
|
|
NM_003072.5(SMARCA4):c.2859+4G>A
|
|
|
NM_003072.5(SMARCA4):c.2860-3C>T
|
rs757292816
|
|
NM_003072.5(SMARCA4):c.287T>A (p.Met96Lys)
|
rs2145750571
|
|
NM_003072.5(SMARCA4):c.2881A>G (p.Thr961Ala)
|
|
|
NM_003072.5(SMARCA4):c.2882C>T (p.Thr961Ile)
|
|
|
NM_003072.5(SMARCA4):c.2884A>G (p.Ile962Val)
|
|
|
NM_003072.5(SMARCA4):c.2891T>C (p.Ile964Thr)
|
rs2090025960
|
|
NM_003072.5(SMARCA4):c.2897G>C (p.Arg966Pro)
|
|
|
NM_003072.5(SMARCA4):c.2900G>A (p.Arg967His)
|
rs1085307769
|
|
NM_003072.5(SMARCA4):c.290G>C (p.Gly97Ala)
|
rs1056057044
|
|
NM_003072.5(SMARCA4):c.290G>T (p.Gly97Val)
|
rs1056057044
|
|
NM_003072.5(SMARCA4):c.2911G>A (p.Val971Met)
|
rs2090026904
|
|
NM_003072.5(SMARCA4):c.2918G>A (p.Arg973Gln)
|
|
|
NM_003072.5(SMARCA4):c.2918G>C (p.Arg973Pro)
|
rs2090027331
|
|
NM_003072.5(SMARCA4):c.292A>G (p.Met98Val)
|
|
|
NM_003072.5(SMARCA4):c.292A>T (p.Met98Leu)
|
|
|
NM_003072.5(SMARCA4):c.2933G>A (p.Arg978Gln)
|
rs1180804356
|
|
NM_003072.5(SMARCA4):c.293T>C (p.Met98Thr)
|
rs1555752060
|
|
NM_003072.5(SMARCA4):c.294G>T (p.Met98Ile)
|
rs757214683
|
|
NM_003072.5(SMARCA4):c.2956G>A (p.Ala986Thr)
|
rs1555779631
|
|
NM_003072.5(SMARCA4):c.295C>T (p.Arg99Trp)
|
rs778890805
|
|
NM_003072.5(SMARCA4):c.295_318dup (p.Arg99_Met106dup)
|
rs1599941221
|
|
NM_003072.5(SMARCA4):c.296G>A (p.Arg99Gln)
|
rs745406632
|
|
NM_003072.5(SMARCA4):c.2973+10T>G
|
rs2090031606
|
|
NM_003072.5(SMARCA4):c.2973+4A>G
|
rs2090030962
|
|
NM_003072.5(SMARCA4):c.2973+6G>A
|
|
|
NM_003072.5(SMARCA4):c.2974-9C>A
|
rs371801361
|
|
NM_003072.5(SMARCA4):c.2974-9_2974-8delinsTT
|
|
|
NM_003072.5(SMARCA4):c.2974G>A (p.Val992Met)
|
|
|
NM_003072.5(SMARCA4):c.2983G>A (p.Val995Ile)
|
rs1600300689
|
|
NM_003072.5(SMARCA4):c.2986A>C (p.Ile996Leu)
|
|
|
NM_003072.5(SMARCA4):c.2986A>G (p.Ile996Val)
|
|
|
NM_003072.5(SMARCA4):c.298T>G (p.Ser100Ala)
|
|
|
NM_003072.5(SMARCA4):c.2990A>G (p.Lys997Arg)
|
|
|
NM_003072.5(SMARCA4):c.2993G>A (p.Cys998Tyr)
|
rs2146472537
|
|
NM_003072.5(SMARCA4):c.2995G>A (p.Asp999Asn)
|
rs1555779989
|
|
NM_003072.5(SMARCA4):c.2996A>C (p.Asp999Ala)
|
rs2090098830
|
|
NM_003072.5(SMARCA4):c.2998A>G (p.Met1000Val)
|
rs1600300787
|
|
NM_003072.5(SMARCA4):c.299C>T (p.Ser100Leu)
|
rs2145750976
|
|
NM_003072.5(SMARCA4):c.3008T>G (p.Leu1003Arg)
|
rs2090099530
|
|
NM_003072.5(SMARCA4):c.3011A>G (p.Gln1004Arg)
|
|
|
NM_003072.5(SMARCA4):c.3014G>A (p.Arg1005Gln)
|
rs1555780008
|
|
NM_003072.5(SMARCA4):c.301G>C (p.Gly101Arg)
|
|
|
NM_003072.5(SMARCA4):c.3023A>C (p.Tyr1008Ser)
|
rs2146473833
|
|
NM_003072.5(SMARCA4):c.3025C>T (p.Arg1009Cys)
|
rs777562578
|
|
NM_003072.5(SMARCA4):c.3026G>T (p.Arg1009Leu)
|
|
|
NM_003072.5(SMARCA4):c.3028C>A (p.His1010Asn)
|
rs2146474042
|
|
NM_003072.5(SMARCA4):c.3029A>G (p.His1010Arg)
|
|
|
NM_003072.5(SMARCA4):c.302G>A (p.Gly101Glu)
|
rs1555752083
|
|
NM_003072.5(SMARCA4):c.3037G>A (p.Ala1013Thr)
|
rs1600301106
|
|
NM_003072.5(SMARCA4):c.304G>T (p.Gly102Cys)
|
rs779627018
|
|
NM_003072.5(SMARCA4):c.305G>A (p.Gly102Asp)
|
rs746602808
|
|
NM_003072.5(SMARCA4):c.305G>C (p.Gly102Ala)
|
rs746602808
|
|
NM_003072.5(SMARCA4):c.3065C>T (p.Ser1022Phe)
|
rs2090102305
|
|
NM_003072.5(SMARCA4):c.3067G>A (p.Glu1023Lys)
|
rs1555780047
|
|
NM_003072.5(SMARCA4):c.3081+3G>A
|
rs2090103237
|
|
NM_003072.5(SMARCA4):c.3081+3_3081+4delinsCA
|
rs1555780058
|
|
NM_003072.5(SMARCA4):c.3081+4G>A
|
|
|
NM_003072.5(SMARCA4):c.3081+6C>G
|
|
|
NM_003072.5(SMARCA4):c.308A>T (p.His103Leu)
|
rs770147215
|
|
NM_003072.5(SMARCA4):c.3091G>A (p.Gly1031Ser)
|
rs749947536
|
|
NM_003072.5(SMARCA4):c.3095C>G (p.Thr1032Ser)
|
rs2146496372
|
|
NM_003072.5(SMARCA4):c.3101C>A (p.Thr1034Asn)
|
|
|
NM_003072.5(SMARCA4):c.3101C>T (p.Thr1034Ile)
|
rs1568493644
|
|
NM_003072.5(SMARCA4):c.3101_3102delinsTT (p.Thr1034Ile)
|
|
|
NM_003072.5(SMARCA4):c.310G>A (p.Ala104Thr)
|
rs1599941622
|
|
NM_003072.5(SMARCA4):c.310G>T (p.Ala104Ser)
|
rs1599941622
|
|
NM_003072.5(SMARCA4):c.3118A>G (p.Met1040Val)
|
|
|
NM_003072.5(SMARCA4):c.311C>T (p.Ala104Val)
|
rs1555752113
|
|
NM_003072.5(SMARCA4):c.313G>A (p.Gly105Arg)
|
rs1060502074
|
|
NM_003072.5(SMARCA4):c.3142C>T (p.His1048Tyr)
|
|
|
NM_003072.5(SMARCA4):c.3149A>T (p.Tyr1050Phe)
|
rs2090184575
|
|
NM_003072.5(SMARCA4):c.3151A>G (p.Met1051Val)
|
rs2146498393
|
|
NM_003072.5(SMARCA4):c.3151A>T (p.Met1051Leu)
|
|
|
NM_003072.5(SMARCA4):c.3161A>C (p.His1054Pro)
|
|
|
NM_003072.5(SMARCA4):c.3165C>G (p.Ile1055Met)
|
|
|
NM_003072.5(SMARCA4):c.3168+6C>A
|
|
|
NM_003072.5(SMARCA4):c.3169G>C (p.Glu1057Gln)
|
rs1555781050
|
|
NM_003072.5(SMARCA4):c.316A>G (p.Met106Val)
|
rs773526113
|
|
NM_003072.5(SMARCA4):c.316A>T (p.Met106Leu)
|
|
|
NM_003072.5(SMARCA4):c.3172T>G (p.Ser1058Ala)
|
rs1568495291
|
|
NM_003072.5(SMARCA4):c.317T>G (p.Met106Arg)
|
|
|
NM_003072.5(SMARCA4):c.3181G>A (p.Glu1061Lys)
|
|
|
NM_003072.5(SMARCA4):c.318G>A (p.Met106Ile)
|
rs1555752136
|
|
NM_003072.5(SMARCA4):c.3190G>A (p.Gly1064Arg)
|
|
|
NM_003072.5(SMARCA4):c.3196A>G (p.Thr1066Ala)
|
|
|
NM_003072.5(SMARCA4):c.3197C>A (p.Thr1066Asn)
|
rs1555781082
|
|
NM_003072.5(SMARCA4):c.3197C>T (p.Thr1066Ile)
|
rs1555781082
|
|
NM_003072.5(SMARCA4):c.31A>G (p.Thr11Ala)
|
rs1060502067
|
|
NM_003072.5(SMARCA4):c.3200G>A (p.Gly1067Asp)
|
rs2090254973
|
|
NM_003072.5(SMARCA4):c.3205A>G (p.Ile1069Val)
|
rs1555781098
|
|
NM_003072.5(SMARCA4):c.320G>T (p.Gly107Val)
|
|
|
NM_003072.5(SMARCA4):c.3215+5G>A
|
rs2090256316
|
|
NM_003072.5(SMARCA4):c.3216-17C>A
|
|
|
NM_003072.5(SMARCA4):c.3216-346C>T
|
|
|
NM_003072.5(SMARCA4):c.3232G>C (p.Ala1078Pro)
|
|
|
NM_003072.5(SMARCA4):c.3233C>G (p.Ala1078Gly)
|
|
|
NM_003072.5(SMARCA4):c.323C>T (p.Pro108Leu)
|
rs1198747280
|
|
NM_003072.5(SMARCA4):c.3249G>C (p.Glu1083Asp)
|
rs1600335341
|
|
NM_003072.5(SMARCA4):c.3256G>A (p.Asp1086Asn)
|
rs1600335439
|
|
NM_003072.5(SMARCA4):c.325C>T (p.Pro109Ser)
|
rs2085934580
|
|
NM_003072.5(SMARCA4):c.3262A>G (p.Ile1088Val)
|
rs2090374012
|
|
NM_003072.5(SMARCA4):c.3265C>T (p.Leu1089Phe)
|
rs1600335596
|
|
NM_003072.5(SMARCA4):c.3268C>T (p.Pro1090Ser)
|
rs2146542763
|
|
NM_003072.5(SMARCA4):c.3271A>G (p.Lys1091Glu)
|
|
|
NM_003072.5(SMARCA4):c.3272A>G (p.Lys1091Arg)
|
rs1555781772
|
|
NM_003072.5(SMARCA4):c.3278G>A (p.Arg1093Gln)
|
rs1568498301
|
|
NM_003072.5(SMARCA4):c.3278G>T (p.Arg1093Leu)
|
rs1568498301
|
|
NM_003072.5(SMARCA4):c.3280G>A (p.Ala1094Thr)
|
rs1600335831
|
|
NM_003072.5(SMARCA4):c.3287A>G (p.Asn1096Ser)
|
rs1354262139
|
|
NM_003072.5(SMARCA4):c.328C>T (p.Pro110Ser)
|
rs2145752088
|
|
NM_003072.5(SMARCA4):c.32C>G (p.Thr11Ser)
|
rs1568416665
|
|
NM_003072.5(SMARCA4):c.32C>T (p.Thr11Ile)
|
rs1568416665
|
|
NM_003072.5(SMARCA4):c.3301C>G (p.Leu1101Val)
|
rs1600336031
|
|
NM_003072.5(SMARCA4):c.3315G>T (p.Met1105Ile)
|
rs2090376788
|
|
NM_003072.5(SMARCA4):c.3316A>G (p.Thr1106Ala)
|
rs2146544445
|
|
NM_003072.5(SMARCA4):c.331A>G (p.Ser111Gly)
|
rs1599941986
|
|
NM_003072.5(SMARCA4):c.3320C>T (p.Ser1107Phe)
|
rs2146544542
|
|
NM_003072.5(SMARCA4):c.3331A>G (p.Ile1111Val)
|
rs2090377448
|
|
NM_003072.5(SMARCA4):c.3348T>G (p.Phe1116Leu)
|
|
|
NM_003072.5(SMARCA4):c.3349G>T (p.Ala1117Ser)
|
rs548906832
|
|
NM_003072.5(SMARCA4):c.334C>G (p.Pro112Ala)
|
|
|
NM_003072.5(SMARCA4):c.3350C>G (p.Ala1117Gly)
|
rs755069412
|
|
NM_003072.5(SMARCA4):c.3353A>G (p.Tyr1118Cys)
|
rs2146545716
|
|
NM_003072.5(SMARCA4):c.3355C>G (p.Arg1119Gly)
|
rs2090378511
|
|
NM_003072.5(SMARCA4):c.3355C>T (p.Arg1119Cys)
|
rs2090378511
|
|
NM_003072.5(SMARCA4):c.3358G>T (p.Gly1120Cys)
|
rs373590049
|
|
NM_003072.5(SMARCA4):c.3362T>A (p.Phe1121Tyr)
|
rs2146546041
|
|
NM_003072.5(SMARCA4):c.3365A>G (p.Lys1122Arg)
|
rs2146546121
|
|
NM_003072.5(SMARCA4):c.3368A>G (p.Tyr1123Cys)
|
|
|
NM_003072.5(SMARCA4):c.337A>G (p.Met113Val)
|
rs774919609
|
|
NM_003072.5(SMARCA4):c.3381T>C (p.Asp1127=)
|
|
|
NM_003072.5(SMARCA4):c.3382+3_3382+6del
|
rs2090379999
|
|
NM_003072.5(SMARCA4):c.3382_3382+3dup
|
|
|
NM_003072.5(SMARCA4):c.3383-3C>G
|
rs371558035
|
|
NM_003072.5(SMARCA4):c.3383G>A (p.Gly1128Glu)
|
|
|
NM_003072.5(SMARCA4):c.3389C>T (p.Thr1130Met)
|
|
|
NM_003072.5(SMARCA4):c.338T>C (p.Met113Thr)
|
rs1175163671
|
|
NM_003072.5(SMARCA4):c.338T>G (p.Met113Arg)
|
rs1175163671
|
|
NM_003072.5(SMARCA4):c.3394G>T (p.Ala1132Ser)
|
rs2146597778
|
|
NM_003072.5(SMARCA4):c.3395C>T (p.Ala1132Val)
|
rs1555783136
|
|
NM_003072.5(SMARCA4):c.3402C>A (p.Asp1134Glu)
|
rs2074871664
|
|
NM_003072.5(SMARCA4):c.3407G>A (p.Gly1136Asp)
|
rs2074871956
|
|
NM_003072.5(SMARCA4):c.340G>T (p.Asp114Tyr)
|
|
|
NM_003072.5(SMARCA4):c.3427_3429del (p.Asn1143del)
|
rs2074872807
|
|
NM_003072.5(SMARCA4):c.3430G>A (p.Glu1144Lys)
|
rs1600364662
|
|
NM_003072.5(SMARCA4):c.3433C>T (p.Pro1145Ser)
|
rs2146599286
|
|
NM_003072.5(SMARCA4):c.3436G>T (p.Gly1146Cys)
|
rs200007170
|
|
NM_003072.5(SMARCA4):c.3437G>T (p.Gly1146Val)
|
rs566531015
|
|
NM_003072.5(SMARCA4):c.3442G>C (p.Glu1148Gln)
|
rs1555783190
|
|
NM_003072.5(SMARCA4):c.3445T>C (p.Tyr1149His)
|
rs2074875124
|
|
NM_003072.5(SMARCA4):c.3446A>G (p.Tyr1149Cys)
|
rs2074875260
|
|
NM_003072.5(SMARCA4):c.3451A>G (p.Ile1151Val)
|
rs544231909
|
|
NM_003072.5(SMARCA4):c.345G>C (p.Gln115His)
|
rs2085937175
|
|
NM_003072.5(SMARCA4):c.346C>T (p.His116Tyr)
|
rs1599942158
|
|
NM_003072.5(SMARCA4):c.3479G>A (p.Gly1160Glu)
|
rs2074877069
|
|
NM_003072.5(SMARCA4):c.347A>G (p.His116Arg)
|
|
|
NM_003072.5(SMARCA4):c.3500C>G (p.Ser1167Trp)
|
rs1192589668
|
|
NM_003072.5(SMARCA4):c.350C>G (p.Ser117Cys)
|
rs759594383
|
|
NM_003072.5(SMARCA4):c.3514A>G (p.Ile1172Val)
|
|
|
NM_003072.5(SMARCA4):c.3546+3A>G
|
rs2074879994
|
|
NM_003072.5(SMARCA4):c.3546+5A>G
|
|
|
NM_003072.5(SMARCA4):c.3547-3del
|
rs2075055829
|
|
NM_003072.5(SMARCA4):c.354A>C (p.Gln118His)
|
rs1329881837
|
|
NM_003072.5(SMARCA4):c.355+6G>A
|
rs2085939729
|
|
NM_003072.5(SMARCA4):c.3554A>G (p.Gln1185Arg)
|
rs2075056831
|
|
NM_003072.5(SMARCA4):c.355G>C (p.Gly119Arg)
|
rs1555752203
|
|
NM_003072.5(SMARCA4):c.356-3C>T
|
rs1599948631
|
|
NM_003072.5(SMARCA4):c.3560A>C (p.Gln1187Pro)
|
|
|
NM_003072.5(SMARCA4):c.356G>A (p.Gly119Asp)
|
rs1599948657
|
|
NM_003072.5(SMARCA4):c.3577A>G (p.Ile1193Val)
|
rs1555784468
|
|
NM_003072.5(SMARCA4):c.3599G>A (p.Arg1200His)
|
rs749001381
|
|
NM_003072.5(SMARCA4):c.35C>A (p.Pro12His)
|
|
|
NM_003072.5(SMARCA4):c.3610C>T (p.Leu1204Phe)
|
rs1555784504
|
|
NM_003072.5(SMARCA4):c.3614G>A (p.Cys1205Tyr)
|
rs112043656
|
|
NM_003072.5(SMARCA4):c.3619G>A (p.Val1207Ile)
|
rs201974258
|
|
NM_003072.5(SMARCA4):c.361C>T (p.Pro121Ser)
|
rs1599948709
|
|
NM_003072.5(SMARCA4):c.3623A>G (p.Asn1208Ser)
|
rs2146650410
|
|
NM_003072.5(SMARCA4):c.362C>T (p.Pro121Leu)
|
rs2086015204
|
|
NM_003072.5(SMARCA4):c.3647C>T (p.Ala1216Val)
|
rs1600389938
|
|
NM_003072.5(SMARCA4):c.364T>C (p.Ser122Pro)
|
rs2086015550
|
|
NM_003072.5(SMARCA4):c.365C>T (p.Ser122Leu)
|
rs1555752859
|
|
NM_003072.5(SMARCA4):c.3679A>G (p.Lys1227Glu)
|
rs1568509876
|
|
NM_003072.5(SMARCA4):c.367C>A (p.Pro123Thr)
|
rs1568421595
|
|
NM_003072.5(SMARCA4):c.368C>A (p.Pro123His)
|
rs2145771332
|
|
NM_003072.5(SMARCA4):c.3703G>A (p.Asp1235Asn)
|
rs759192892
|
|
NM_003072.5(SMARCA4):c.370C>G (p.Leu124Val)
|
rs2145771417
|
|
NM_003072.5(SMARCA4):c.3718A>G (p.Ser1240Gly)
|
rs2075065054
|
|
NM_003072.5(SMARCA4):c.3721C>A (p.His1241Asn)
|
|
|
NM_003072.5(SMARCA4):c.3730C>T (p.Arg1244Cys)
|
rs2146654092
|
|
NM_003072.5(SMARCA4):c.3731G>A (p.Arg1244His)
|
rs1060502060
|
|
NM_003072.5(SMARCA4):c.3733G>A (p.Ala1245Thr)
|
rs1600390635
|
|
NM_003072.5(SMARCA4):c.374G>A (p.Gly125Asp)
|
rs757566936
|
|
NM_003072.5(SMARCA4):c.3760G>A (p.Glu1254Lys)
|
rs2146655256
|
|
NM_003072.5(SMARCA4):c.3768_3774+7dup
|
rs2146655619
|
|
NM_003072.5(SMARCA4):c.3769G>A (p.Asp1257Asn)
|
|
|
NM_003072.5(SMARCA4):c.3769G>C (p.Asp1257His)
|
rs878854214
|
|
NM_003072.5(SMARCA4):c.376G>A (p.Gly126Ser)
|
|
|
NM_003072.5(SMARCA4):c.376G>C (p.Gly126Arg)
|
|
|
NM_003072.5(SMARCA4):c.376G>T (p.Gly126Cys)
|
|
|
NM_003072.5(SMARCA4):c.3771T>A (p.Asp1257Glu)
|
rs2146655723
|
|
NM_003072.5(SMARCA4):c.3774+1_3774+5dup
|
|
|
NM_003072.5(SMARCA4):c.3774+3G>C
|
rs1600390925
|
|
NM_003072.5(SMARCA4):c.3774+4A>G
|
rs1600390948
|
|
NM_003072.5(SMARCA4):c.3774+4A>T
|
rs1600390948
|
|
NM_003072.5(SMARCA4):c.3775-10_3775-7del
|
rs1060502076
|
|
NM_003072.5(SMARCA4):c.3775-3C>A
|
rs376039891
|
|
NM_003072.5(SMARCA4):c.3775-3C>T
|
rs376039891
|
|
NM_003072.5(SMARCA4):c.3775-6C>T
|
rs2146664016
|
|
NM_003072.5(SMARCA4):c.3775-9T>G
|
rs2146663886
|
|
NM_003072.5(SMARCA4):c.377G>T (p.Gly126Val)
|
rs2145771699
|
|
NM_003072.5(SMARCA4):c.3782A>G (p.His1261Arg)
|
rs2075086500
|
|
NM_003072.5(SMARCA4):c.3785G>A (p.Cys1262Tyr)
|
|
|
NM_003072.5(SMARCA4):c.3787A>G (p.Ser1263Gly)
|
|
|
NM_003072.5(SMARCA4):c.3790A>G (p.Thr1264Ala)
|
rs2075086877
|
|
NM_003072.5(SMARCA4):c.3790A>T (p.Thr1264Ser)
|
rs2075086877
|
|
NM_003072.5(SMARCA4):c.3791C>A (p.Thr1264Lys)
|
rs377119410
|
|
NM_003072.5(SMARCA4):c.3794G>C (p.Gly1265Ala)
|
rs775157286
|
|
NM_003072.5(SMARCA4):c.37C>T (p.Arg13Trp)
|
rs1568416700
|
|
NM_003072.5(SMARCA4):c.3808A>G (p.Ser1270Gly)
|
rs1600393477
|
|
NM_003072.5(SMARCA4):c.3814G>T (p.Ala1272Ser)
|
rs776672640
|
|
NM_003072.5(SMARCA4):c.3818A>G (p.His1273Arg)
|
rs1600393629
|
|
NM_003072.5(SMARCA4):c.3820A>G (p.Thr1274Ala)
|
rs1600393687
|
|
NM_003072.5(SMARCA4):c.3823G>C (p.Ala1275Pro)
|
rs1600393728
|
|
NM_003072.5(SMARCA4):c.3826C>A (p.Pro1276Thr)
|
|
|
NM_003072.5(SMARCA4):c.3827C>G (p.Pro1276Arg)
|
rs2075090923
|
|
NM_003072.5(SMARCA4):c.3830C>A (p.Pro1277Gln)
|
rs746219091
|
|
NM_003072.5(SMARCA4):c.3833C>T (p.Pro1278Leu)
|
rs2075091471
|
|
NM_003072.5(SMARCA4):c.3836C>T (p.Ala1279Val)
|
rs1232715199
|
|
NM_003072.5(SMARCA4):c.3838G>A (p.Gly1280Ser)
|
rs2075091931
|
|
NM_003072.5(SMARCA4):c.3844A>G (p.Asn1282Asp)
|
rs2075092306
|
|
NM_003072.5(SMARCA4):c.3848C>T (p.Pro1283Leu)
|
rs2146667556
|
|
NM_003072.5(SMARCA4):c.3851A>G (p.Asp1284Gly)
|
|
|
NM_003072.5(SMARCA4):c.3855G>A (p.Leu1285=)
|
rs1600394125
|
|
NM_003072.5(SMARCA4):c.3855G>T (p.Leu1285Phe)
|
|
|
NM_003072.5(SMARCA4):c.3856G>C (p.Glu1286Gln)
|
rs2146667976
|
|
NM_003072.5(SMARCA4):c.3858G>C (p.Glu1286Asp)
|
|
|
NM_003072.5(SMARCA4):c.3860A>T (p.Glu1287Val)
|
rs1568511022
|
|
NM_003072.5(SMARCA4):c.3865C>T (p.Pro1289Ser)
|
rs1356762692
|
|
NM_003072.5(SMARCA4):c.3866C>T (p.Pro1289Leu)
|
rs2146668438
|
|
NM_003072.5(SMARCA4):c.3868C>G (p.Leu1290Val)
|
rs1555784851
|
|
NM_003072.5(SMARCA4):c.3873+3G>T
|
|
|
NM_003072.5(SMARCA4):c.3873+5G>A
|
rs1057522951
|
|
NM_003072.5(SMARCA4):c.3873+6A>C
|
|
|
NM_003072.5(SMARCA4):c.3873+6_3873+7del
|
rs2146668744
|
|
NM_003072.5(SMARCA4):c.3873+8G>A
|
|
|
NM_003072.5(SMARCA4):c.3873G>T (p.Lys1291Asn)
|
rs2075094217
|
|
NM_003072.5(SMARCA4):c.3874-5T>C
|
rs1600397317
|
|
NM_003072.5(SMARCA4):c.3878A>G (p.Glu1293Gly)
|
|
|
NM_003072.5(SMARCA4):c.388G>A (p.Ala130Thr)
|
rs779298300
|
|
NM_003072.5(SMARCA4):c.3895G>A (p.Asp1299Asn)
|
rs747286271
|
|
NM_003072.5(SMARCA4):c.3898G>A (p.Glu1300Lys)
|
rs1555785006
|
|
NM_003072.5(SMARCA4):c.38G>T (p.Arg13Leu)
|
|
|
NM_003072.5(SMARCA4):c.3908A>G (p.Asn1303Ser)
|
rs2075118158
|
|
NM_003072.5(SMARCA4):c.3913A>G (p.Met1305Val)
|
rs1568512179
|
|
NM_003072.5(SMARCA4):c.3916A>G (p.Ile1306Val)
|
rs1060502080
|
|
NM_003072.5(SMARCA4):c.391T>C (p.Ser131Pro)
|
|
|
NM_003072.5(SMARCA4):c.3926A>G (p.His1309Arg)
|
rs1158845896
|
|
NM_003072.5(SMARCA4):c.3927C>G (p.His1309Gln)
|
rs148495641
|
|
NM_003072.5(SMARCA4):c.3928G>A (p.Glu1310Lys)
|
|
|
NM_003072.5(SMARCA4):c.3928G>C (p.Glu1310Gln)
|
|
|
NM_003072.5(SMARCA4):c.3929A>T (p.Glu1310Val)
|
|
|
NM_003072.5(SMARCA4):c.392C>G (p.Ser131Cys)
|
rs1555752952
|
|
NM_003072.5(SMARCA4):c.392C>T (p.Ser131Phe)
|
|
|
NM_003072.5(SMARCA4):c.3941A>T (p.Asp1314Val)
|
rs2075119766
|
|
NM_003072.5(SMARCA4):c.3943C>G (p.Leu1315Val)
|
rs1555785043
|
|
NM_003072.5(SMARCA4):c.3946T>C (p.Phe1316Leu)
|
rs2075120276
|
|
NM_003072.5(SMARCA4):c.3947T>A (p.Phe1316Tyr)
|
rs1455103075
|
|
NM_003072.5(SMARCA4):c.3950T>C (p.Met1317Thr)
|
rs1555785051
|
|
NM_003072.5(SMARCA4):c.3951+3A>G
|
rs1600398046
|
|
NM_003072.5(SMARCA4):c.3951+5G>A
|
|
|
NM_003072.5(SMARCA4):c.3951G>A (p.Met1317Ile)
|
|
|
NM_003072.5(SMARCA4):c.3952-11C>G
|
|
|
NM_003072.5(SMARCA4):c.3952-12C>T
|
|
|
NM_003072.5(SMARCA4):c.3952-17G>T
|
|
|
NM_003072.5(SMARCA4):c.3953G>A (p.Arg1318His)
|
rs2075174391
|
|
NM_003072.5(SMARCA4):c.3955A>C (p.Met1319Leu)
|
rs2075174627
|
|
NM_003072.5(SMARCA4):c.3955A>G (p.Met1319Val)
|
rs2075174627
|
|
NM_003072.5(SMARCA4):c.3956T>C (p.Met1319Thr)
|
rs2075174760
|
|
NM_003072.5(SMARCA4):c.3957G>A (p.Met1319Ile)
|
|
|
NM_003072.5(SMARCA4):c.395G>A (p.Ser132Asn)
|
rs1568421747
|
|
NM_003072.5(SMARCA4):c.3960C>A (p.Asp1320Glu)
|
|
|
NM_003072.5(SMARCA4):c.3961C>A (p.Leu1321Met)
|
|
|
NM_003072.5(SMARCA4):c.3967C>T (p.Arg1323Cys)
|
rs867953095
|
|
NM_003072.5(SMARCA4):c.3968G>A (p.Arg1323His)
|
rs61750054
|
|
NM_003072.5(SMARCA4):c.3969C>T (p.Arg1323=)
|
rs2075175651
|
|
NM_003072.5(SMARCA4):c.3974G>A (p.Arg1325His)
|
rs1600405478
|
|
NM_003072.5(SMARCA4):c.3976G>A (p.Glu1326Lys)
|
rs1482864360
|
|
NM_003072.5(SMARCA4):c.3977A>T (p.Glu1326Val)
|
rs2146696740
|
|
NM_003072.5(SMARCA4):c.3978G>C (p.Glu1326Asp)
|
rs1060502090
|
|
NM_003072.5(SMARCA4):c.397C>T (p.Pro133Ser)
|
|
|
NM_003072.5(SMARCA4):c.3980A>G (p.Glu1327Gly)
|
|
|
NM_003072.5(SMARCA4):c.3981G>T (p.Glu1327Asp)
|
rs878854218
|
|
NM_003072.5(SMARCA4):c.3985C>G (p.Arg1329Gly)
|
rs878854219
|
|
NM_003072.5(SMARCA4):c.3985C>T (p.Arg1329Cys)
|
rs878854219
|
|
NM_003072.5(SMARCA4):c.3986G>A (p.Arg1329His)
|
rs1555785361
|
|
NM_003072.5(SMARCA4):c.398C>T (p.Pro133Leu)
|
rs2145772612
|
|
NM_003072.5(SMARCA4):c.3991C>G (p.Pro1331Ala)
|
rs1555785363
|
|
NM_003072.5(SMARCA4):c.3992C>T (p.Pro1331Leu)
|
rs1568514190
|
|
NM_003072.5(SMARCA4):c.3995A>G (p.Lys1332Arg)
|
|
|
NM_003072.5(SMARCA4):c.3997C>T (p.Arg1333Trp)
|
rs1403269611
|
|
NM_003072.5(SMARCA4):c.3G>A (p.Met1Ile)
|
rs2145720045
|
|
NM_003072.5(SMARCA4):c.4001A>C (p.Lys1334Thr)
|
|
|
NM_003072.5(SMARCA4):c.4001A>G (p.Lys1334Arg)
|
rs2075177811
|
|
NM_003072.5(SMARCA4):c.4002G>C (p.Lys1334Asn)
|
rs2146697899
|
|
NM_003072.5(SMARCA4):c.4007G>A (p.Arg1336His)
|
|
|
NM_003072.5(SMARCA4):c.4012A>C (p.Met1338Leu)
|
|
|
NM_003072.5(SMARCA4):c.4012A>G (p.Met1338Val)
|
rs1555785383
|
|
NM_003072.5(SMARCA4):c.4014G>A (p.Met1338Ile)
|
rs1462986718
|
|
NM_003072.5(SMARCA4):c.4022A>G (p.Asp1341Gly)
|
rs1600406074
|
|
NM_003072.5(SMARCA4):c.4027C>T (p.Leu1343Phe)
|
rs1394867973
|
|
NM_003072.5(SMARCA4):c.4033T>G (p.Ser1345Ala)
|
|
|
NM_003072.5(SMARCA4):c.4034C>T (p.Ser1345Leu)
|
rs746533073
|
|
NM_003072.5(SMARCA4):c.4038G>T (p.Trp1346Cys)
|
|
|
NM_003072.5(SMARCA4):c.403C>T (p.Pro135Ser)
|
rs150949949
|
|
NM_003072.5(SMARCA4):c.4043T>G (p.Ile1348Ser)
|
rs2146699503
|
|
NM_003072.5(SMARCA4):c.404C>T (p.Pro135Leu)
|
|
|
NM_003072.5(SMARCA4):c.4055C>T (p.Ala1352Val)
|
rs1568514549
|
|
NM_003072.5(SMARCA4):c.4066C>T (p.Arg1356Trp)
|
|
|
NM_003072.5(SMARCA4):c.4067G>T (p.Arg1356Leu)
|
|
|
NM_003072.5(SMARCA4):c.406G>T (p.Ala136Ser)
|
|
|
NM_003072.5(SMARCA4):c.4076G>A (p.Cys1359Tyr)
|
rs2075182244
|
|
NM_003072.5(SMARCA4):c.4076G>C (p.Cys1359Ser)
|
rs2075182244
|
|
NM_003072.5(SMARCA4):c.4078GAG[4] (p.Glu1364del)
|
rs148514235
|
|
NM_003072.5(SMARCA4):c.407C>T (p.Ala136Val)
|
rs535299273
|
|
NM_003072.5(SMARCA4):c.4087G>A (p.Glu1363Lys)
|
|
|
NM_003072.5(SMARCA4):c.4090G>C (p.Glu1364Gln)
|
|
|
NM_003072.5(SMARCA4):c.4091A>C (p.Glu1364Ala)
|
rs2075182920
|
|
NM_003072.5(SMARCA4):c.4091AGA[1] (p.Lys1365del)
|
rs1600406755
|
|
NM_003072.5(SMARCA4):c.4099T>C (p.Phe1367Leu)
|
rs2146701825
|
|
NM_003072.5(SMARCA4):c.40C>A (p.Pro14Thr)
|
rs754291337
|
|
NM_003072.5(SMARCA4):c.40_41delinsGA (p.Pro14Glu)
|
rs2145721177
|
|
NM_003072.5(SMARCA4):c.4101C>G (p.Phe1367Leu)
|
rs772075876
|
|
NM_003072.5(SMARCA4):c.4102G>A (p.Gly1368Ser)
|
rs1060502101
|
|
NM_003072.5(SMARCA4):c.4105C>T (p.Arg1369Cys)
|
rs199962502
|
|
NM_003072.5(SMARCA4):c.4108G>A (p.Gly1370Ser)
|
|
|
NM_003072.5(SMARCA4):c.4112C>T (p.Ser1371Phe)
|
rs1555785467
|
|
NM_003072.5(SMARCA4):c.4120C>T (p.Arg1374Cys)
|
|
|
NM_003072.5(SMARCA4):c.4121G>A (p.Arg1374His)
|
rs1060502070
|
|
NM_003072.5(SMARCA4):c.4127A>C (p.Glu1376Ala)
|
|
|
NM_003072.5(SMARCA4):c.413G>A (p.Gly138Asp)
|
|
|
NM_003072.5(SMARCA4):c.4141G>A (p.Asp1381Asn)
|
rs2075186524
|
|
NM_003072.5(SMARCA4):c.4148_4159del (p.Leu1383_Lys1386del)
|
|
|
NM_003072.5(SMARCA4):c.414C>T (p.Gly138=)
|
rs1568421853
|
|
NM_003072.5(SMARCA4):c.4155G>C (p.Glu1385Asp)
|
rs1600407349
|
|
NM_003072.5(SMARCA4):c.4170+4C>T
|
rs1600407451
|
|
NM_003072.5(SMARCA4):c.4170+5A>T
|
|
|
NM_003072.5(SMARCA4):c.4170+6T>C
|
rs1060502065
|
|
NM_003072.5(SMARCA4):c.4171-1749G>T
|
rs1000417349
|
|
NM_003072.5(SMARCA4):c.4171-1751G>T
|
rs1555787264
|
|
NM_003072.5(SMARCA4):c.4171-1768A>T
|
rs2075457834
|
|
NM_003072.5(SMARCA4):c.4171-1770G>C
|
rs772645133
|
|
NM_003072.5(SMARCA4):c.4171-1770G>T
|
rs772645133
|
|
NM_003072.5(SMARCA4):c.4171-1774T>A
|
rs1600446408
|
|
NM_003072.5(SMARCA4):c.4171-1782G>T
|
rs2075456219
|
|
NM_003072.5(SMARCA4):c.4171-1789C>T
|
rs2075455200
|
|
NM_003072.5(SMARCA4):c.4171-1790C>A
|
rs1481819938
|
|
NM_003072.5(SMARCA4):c.4171-1791T>A
|
rs1391604700
|
|
NM_003072.5(SMARCA4):c.4171-1807G>T
|
rs2075452756
|
|
NM_003072.5(SMARCA4):c.4171-1821C>G
|
rs1600445482
|
|
NM_003072.5(SMARCA4):c.4171-1842C>T
|
rs2075449703
|
|
NM_003072.5(SMARCA4):c.4171-1860T>G
|
|
|
NM_003072.5(SMARCA4):c.4171-1861A>G
|
rs771462690
|
|
NM_003072.5(SMARCA4):c.4171-3A>G
|
rs2146812535
|
|
NM_003072.5(SMARCA4):c.4174A>G (p.Ile1392Val)
|
|
|
NM_003072.5(SMARCA4):c.4177G>A (p.Glu1393Lys)
|
rs752264295
|
|
NM_003072.5(SMARCA4):c.4180G>A (p.Glu1394Lys)
|
rs1238368623
|
|
NM_003072.5(SMARCA4):c.4189C>A (p.Leu1397Met)
|
|
|
NM_003072.5(SMARCA4):c.418T>C (p.Ser140Pro)
|
rs1022140074
|
|
NM_003072.5(SMARCA4):c.4192GAG[1] (p.Glu1399del)
|
|
|
NM_003072.5(SMARCA4):c.4194G>C (p.Glu1398Asp)
|
rs1555788088
|
|
NM_003072.5(SMARCA4):c.4197G>T (p.Glu1399Asp)
|
rs2075597503
|
|
NM_003072.5(SMARCA4):c.419C>A (p.Ser140Tyr)
|
|
|
NM_003072.5(SMARCA4):c.419C>G (p.Ser140Cys)
|
|
|
NM_003072.5(SMARCA4):c.4200C>G (p.Ile1400Met)
|
rs577059244
|
|
NM_003072.5(SMARCA4):c.4200_4201delinsAC (p.Glu1401Gln)
|
|
|
NM_003072.5(SMARCA4):c.4201G>A (p.Glu1401Lys)
|
rs756924224
|
|
NM_003072.5(SMARCA4):c.4204G>A (p.Glu1402Lys)
|
|
|
NM_003072.5(SMARCA4):c.4207G>A (p.Glu1403Lys)
|
rs878854223
|
|
NM_003072.5(SMARCA4):c.4209G>C (p.Glu1403Asp)
|
rs2075598271
|
|
NM_003072.5(SMARCA4):c.4210G>T (p.Val1404Phe)
|
rs1555788108
|
|
NM_003072.5(SMARCA4):c.4213C>T (p.Arg1405Trp)
|
rs1057518049
|
|
NM_003072.5(SMARCA4):c.4217A>G (p.Gln1406Arg)
|
rs2075599157
|
|
NM_003072.5(SMARCA4):c.4225T>A (p.Ser1409Thr)
|
|
|
NM_003072.5(SMARCA4):c.4225TCA[1] (p.Ser1410del)
|
rs1600466492
|
|
NM_003072.5(SMARCA4):c.4228T>A (p.Ser1410Thr)
|
rs1282651436
|
|
NM_003072.5(SMARCA4):c.4231C>T (p.Arg1411Trp)
|
rs755455174
|
|
NM_003072.5(SMARCA4):c.4237C>G (p.Arg1413Gly)
|
rs558017726
|
|
NM_003072.5(SMARCA4):c.4238G>A (p.Arg1413His)
|
|
|
NM_003072.5(SMARCA4):c.4238G>C (p.Arg1413Pro)
|
|
|
NM_003072.5(SMARCA4):c.4246G>A (p.Asp1416Asn)
|
|
|
NM_003072.5(SMARCA4):c.4246G>C (p.Asp1416His)
|
rs1600466835
|
|
NM_003072.5(SMARCA4):c.4250G>A (p.Ser1417Asn)
|
rs1158882017
|
|
NM_003072.5(SMARCA4):c.4251C>A (p.Ser1417Arg)
|
rs377057304
|
|
NM_003072.5(SMARCA4):c.4252G>T (p.Asp1418Tyr)
|
rs761083981
|
|
NM_003072.5(SMARCA4):c.4254C>A (p.Asp1418Glu)
|
rs370380553
|
|
NM_003072.5(SMARCA4):c.4256C>T (p.Ala1419Val)
|
rs1413620647
|
|
NM_003072.5(SMARCA4):c.4258G>A (p.Gly1420Ser)
|
rs772153816
|
|
NM_003072.5(SMARCA4):c.4259G>C (p.Gly1420Ala)
|
rs1555788169
|
|
NM_003072.5(SMARCA4):c.4261T>C (p.Ser1421Pro)
|
|
|
NM_003072.5(SMARCA4):c.4265C>T (p.Ser1422Phe)
|
rs2146816731
|
|
NM_003072.5(SMARCA4):c.4267A>G (p.Thr1423Ala)
|
rs1258849439
|
|
NM_003072.5(SMARCA4):c.4267A>T (p.Thr1423Ser)
|
rs1258849439
|
|
NM_003072.5(SMARCA4):c.4270C>G (p.Pro1424Ala)
|
|
|
NM_003072.5(SMARCA4):c.4271C>A (p.Pro1424Gln)
|
|
|
NM_003072.5(SMARCA4):c.4271C>G (p.Pro1424Arg)
|
rs760654888
|
|
NM_003072.5(SMARCA4):c.4274C>T (p.Thr1425Ile)
|
rs1340211412
|
|
NM_003072.5(SMARCA4):c.4274CCA[1] (p.Thr1426del)
|
|
|
NM_003072.5(SMARCA4):c.4276A>G (p.Thr1426Ala)
|
rs1555788214
|
|
NM_003072.5(SMARCA4):c.4279_4284dup (p.Ser1427_Thr1428dup)
|
rs2146817173
|
|
NM_003072.5(SMARCA4):c.427C>T (p.Pro143Ser)
|
rs891010465
|
|
NM_003072.5(SMARCA4):c.4280G>A (p.Ser1427Asn)
|
rs1600467547
|
|
NM_003072.5(SMARCA4):c.4285C>T (p.Arg1429Cys)
|
rs1060502069
|
|
NM_003072.5(SMARCA4):c.4288A>G (p.Ser1430Gly)
|
rs1227801413
|
|
NM_003072.5(SMARCA4):c.4288_4290del (p.Ser1430del)
|
|
|
NM_003072.5(SMARCA4):c.4289G>A (p.Ser1430Asn)
|
rs2075604964
|
|
NM_003072.5(SMARCA4):c.428C>A (p.Pro143His)
|
|
|
NM_003072.5(SMARCA4):c.428C>T (p.Pro143Leu)
|
|
|
NM_003072.5(SMARCA4):c.4290C>A (p.Ser1430Arg)
|
rs879796805
|
|
NM_003072.5(SMARCA4):c.4291C>G (p.Arg1431Gly)
|
rs587778681
|
|
NM_003072.5(SMARCA4):c.4294G>T (p.Asp1432Tyr)
|
|
|
NM_003072.5(SMARCA4):c.4295A>G (p.Asp1432Gly)
|
rs1555788260
|
|
NM_003072.5(SMARCA4):c.4299G>T (p.Lys1433Asn)
|
rs1600467954
|
|
NM_003072.5(SMARCA4):c.4300G>A (p.Asp1434Asn)
|
rs756599243
|
|
NM_003072.5(SMARCA4):c.4301A>G (p.Asp1434Gly)
|
rs777893871
|
|
NM_003072.5(SMARCA4):c.4302C>A (p.Asp1434Glu)
|
rs146747026
|
|
NM_003072.5(SMARCA4):c.4302CGA[1] (p.Asp1435del)
|
rs2075606466
|
|
NM_003072.5(SMARCA4):c.4303G>A (p.Asp1435Asn)
|
rs796506759
|
|
NM_003072.5(SMARCA4):c.4305C>G (p.Asp1435Glu)
|
rs771071300
|
|
NM_003072.5(SMARCA4):c.4310G>C (p.Ser1437Thr)
|
rs1402031100
|
|
NM_003072.5(SMARCA4):c.4310G>T (p.Ser1437Ile)
|
rs1402031100
|
|
NM_003072.5(SMARCA4):c.4310_4311delinsAA (p.Ser1437Lys)
|
rs864622722
|
|
NM_003072.5(SMARCA4):c.4315A>C (p.Lys1439Gln)
|
rs2146819016
|
|
NM_003072.5(SMARCA4):c.4316A>G (p.Lys1439Arg)
|
|
|
NM_003072.5(SMARCA4):c.4322A>G (p.Lys1441Arg)
|
rs1555788304
|
|
NM_003072.5(SMARCA4):c.4324A>C (p.Lys1442Gln)
|
|
|
NM_003072.5(SMARCA4):c.432G>T (p.Gln144His)
|
|
|
NM_003072.5(SMARCA4):c.4330G>A (p.Gly1444Arg)
|
|
|
NM_003072.5(SMARCA4):c.4331G>C (p.Gly1444Ala)
|
rs2075609046
|
|
NM_003072.5(SMARCA4):c.4333C>T (p.Arg1445Trp)
|
|
|
NM_003072.5(SMARCA4):c.4334G>A (p.Arg1445Gln)
|
rs1060502068
|
|
NM_003072.5(SMARCA4):c.4336C>T (p.Pro1446Ser)
|
rs1555788318
|
|
NM_003072.5(SMARCA4):c.4337C>T (p.Pro1446Leu)
|
rs760763271
|
|
NM_003072.5(SMARCA4):c.433A>G (p.Met145Val)
|
rs1599949433
|
|
NM_003072.5(SMARCA4):c.433A>T (p.Met145Leu)
|
rs1599949433
|
|
NM_003072.5(SMARCA4):c.4340C>T (p.Pro1447Leu)
|
rs2146820178
|
|
NM_003072.5(SMARCA4):c.4342G>A (p.Ala1448Thr)
|
rs761338885
|
|
NM_003072.5(SMARCA4):c.4342G>C (p.Ala1448Pro)
|
rs761338885
|
|
NM_003072.5(SMARCA4):c.4345G>A (p.Glu1449Lys)
|
rs1568528491
|
|
NM_003072.5(SMARCA4):c.4346A>G (p.Glu1449Gly)
|
rs1060502058
|
|
NM_003072.5(SMARCA4):c.4348A>G (p.Lys1450Glu)
|
rs2146820574
|
|
NM_003072.5(SMARCA4):c.4351C>G (p.Leu1451Val)
|
rs1568528504
|
|
NM_003072.5(SMARCA4):c.4352T>C (p.Leu1451Pro)
|
rs2075610848
|
|
NM_003072.5(SMARCA4):c.4355C>T (p.Ser1452Phe)
|
|
|
NM_003072.5(SMARCA4):c.435G>A (p.Met145Ile)
|
rs766377662
|
|
NM_003072.5(SMARCA4):c.4366C>T (p.Pro1456Ser)
|
rs2146821386
|
|
NM_003072.5(SMARCA4):c.4367C>A (p.Pro1456His)
|
|
|
NM_003072.5(SMARCA4):c.4367C>G (p.Pro1456Arg)
|
rs2075611320
|
|
NM_003072.5(SMARCA4):c.4372C>G (p.Leu1458Val)
|
rs1600469027
|
|
NM_003072.5(SMARCA4):c.4372C>T (p.Leu1458Phe)
|
rs1600469027
|
|
NM_003072.5(SMARCA4):c.4376C>G (p.Thr1459Ser)
|
|
|
NM_003072.5(SMARCA4):c.4376C>T (p.Thr1459Ile)
|
rs1555788341
|
|
NM_003072.5(SMARCA4):c.4378A>G (p.Lys1460Glu)
|
|
|
NM_003072.5(SMARCA4):c.4379A>G (p.Lys1460Arg)
|
rs2075611830
|
|
NM_003072.5(SMARCA4):c.4380G>C (p.Lys1460Asn)
|
rs2146822019
|
|
NM_003072.5(SMARCA4):c.4381A>C (p.Lys1461Gln)
|
|
|
NM_003072.5(SMARCA4):c.4382A>T (p.Lys1461Met)
|
rs1600469070
|
|
NM_003072.5(SMARCA4):c.4388AGA[1] (p.Lys1464del)
|
|
|
NM_003072.5(SMARCA4):c.4389G>T (p.Lys1463Asn)
|
|
|
NM_003072.5(SMARCA4):c.4391A>G (p.Lys1464Arg)
|
rs1555788352
|
|
NM_003072.5(SMARCA4):c.4392G>T (p.Lys1464Asn)
|
rs1600469159
|
|
NM_003072.5(SMARCA4):c.4394T>C (p.Ile1465Thr)
|
rs1377505488
|
|
NM_003072.5(SMARCA4):c.43G>A (p.Gly15Ser)
|
|
|
NM_003072.5(SMARCA4):c.4401T>A (p.Asp1467Glu)
|
|
|
NM_003072.5(SMARCA4):c.4402G>T (p.Ala1468Ser)
|
rs1600469287
|
|
NM_003072.5(SMARCA4):c.4406T>G (p.Val1469Gly)
|
rs2075613392
|
|
NM_003072.5(SMARCA4):c.4417A>G (p.Lys1473Glu)
|
rs878854227
|
|
NM_003072.5(SMARCA4):c.4420G>A (p.Asp1474Asn)
|
rs1555788376
|
|
NM_003072.5(SMARCA4):c.4424+4A>G
|
rs2146823944
|
|
NM_003072.5(SMARCA4):c.4424+5G>A
|
rs756617788
|
|
NM_003072.5(SMARCA4):c.4425-1G>A
|
rs766881255
|
|
NM_003072.5(SMARCA4):c.4425-3C>G
|
rs748738510
|
|
NM_003072.5(SMARCA4):c.4425-3C>T
|
|
|
NM_003072.5(SMARCA4):c.4426A>T (p.Ser1476Cys)
|
|
|
NM_003072.5(SMARCA4):c.4427G>A (p.Ser1476Asn)
|
rs2076659111
|
|
NM_003072.5(SMARCA4):c.4430G>A (p.Ser1477Asn)
|
rs770592452
|
|
NM_003072.5(SMARCA4):c.4430G>C (p.Ser1477Thr)
|
rs770592452
|
|
NM_003072.5(SMARCA4):c.4432G>C (p.Gly1478Arg)
|
rs2093999657
|
|
NM_003072.5(SMARCA4):c.4435C>T (p.Arg1479Cys)
|
rs1458830964
|
|
NM_003072.5(SMARCA4):c.443G>C (p.Gly148Ala)
|
|
|
NM_003072.5(SMARCA4):c.4441C>G (p.Leu1481Val)
|
|
|
NM_003072.5(SMARCA4):c.4444A>G (p.Ser1482Gly)
|
|
|
NM_003072.5(SMARCA4):c.4445G>T (p.Ser1482Ile)
|
rs2076660347
|
|
NM_003072.5(SMARCA4):c.4449G>C (p.Glu1483Asp)
|
rs776843815
|
|
NM_003072.5(SMARCA4):c.4450G>A (p.Val1484Ile)
|
rs1600629958
|
|
NM_003072.5(SMARCA4):c.4451T>C (p.Val1484Ala)
|
|
|
NM_003072.5(SMARCA4):c.4461G>T (p.Gln1487His)
|
|
|
NM_003072.5(SMARCA4):c.4465C>G (p.Pro1489Ala)
|
rs2147086024
|
|
NM_003072.5(SMARCA4):c.4466C>G (p.Pro1489Arg)
|
|
|
NM_003072.5(SMARCA4):c.4468_4485del (p.Ser1490_Pro1495del)
|
rs2076661206
|
|
NM_003072.5(SMARCA4):c.4469C>T (p.Ser1490Leu)
|
rs1329240441
|
|
NM_003072.5(SMARCA4):c.4472G>A (p.Arg1491Gln)
|
rs1388483526
|
|
NM_003072.5(SMARCA4):c.4474A>C (p.Lys1492Gln)
|
rs1060502075
|
|
NM_003072.5(SMARCA4):c.4475A>G (p.Lys1492Arg)
|
rs1188183781
|
|
NM_003072.5(SMARCA4):c.4478A>C (p.Glu1493Ala)
|
rs1568560821
|
|
NM_003072.5(SMARCA4):c.4479G>T (p.Glu1493Asp)
|
rs1568560832
|
|
NM_003072.5(SMARCA4):c.4483C>T (p.Pro1495Ser)
|
|
|
NM_003072.5(SMARCA4):c.4484C>T (p.Pro1495Leu)
|
rs2147086899
|
|
NM_003072.5(SMARCA4):c.448G>A (p.Gly150Arg)
|
rs1555753081
|
|
NM_003072.5(SMARCA4):c.4495G>A (p.Glu1499Lys)
|
rs1555795053
|
|
NM_003072.5(SMARCA4):c.4496A>C (p.Glu1499Ala)
|
rs1555795056
|
|
NM_003072.5(SMARCA4):c.449G>A (p.Gly150Glu)
|
|
|
NM_003072.5(SMARCA4):c.44G>A (p.Gly15Asp)
|
|
|
NM_003072.5(SMARCA4):c.44G>C (p.Gly15Ala)
|
rs1060502077
|
|
NM_003072.5(SMARCA4):c.44G>T (p.Gly15Val)
|
rs1060502077
|
|
NM_003072.5(SMARCA4):c.4504C>T (p.Arg1502Cys)
|
rs1181505860
|
|
NM_003072.5(SMARCA4):c.4505G>A (p.Arg1502His)
|
rs1555795063
|
|
NM_003072.5(SMARCA4):c.4507A>G (p.Lys1503Glu)
|
|
|
NM_003072.5(SMARCA4):c.4509G>T (p.Lys1503Asn)
|
rs1600630618
|
|
NM_003072.5(SMARCA4):c.4519T>G (p.Phe1507Val)
|
|
|
NM_003072.5(SMARCA4):c.451G>A (p.Gly151Ser)
|
rs962808170
|
|
NM_003072.5(SMARCA4):c.4521C>G (p.Phe1507Leu)
|
rs2147088411
|
|
NM_003072.5(SMARCA4):c.4523A>G (p.Lys1508Arg)
|
rs1400097305
|
|
NM_003072.5(SMARCA4):c.4524G>C (p.Lys1508Asn)
|
|
|
NM_003072.5(SMARCA4):c.4524G>T (p.Lys1508Asn)
|
|
|
NM_003072.5(SMARCA4):c.452G>T (p.Gly151Val)
|
rs755746907
|
|
NM_003072.5(SMARCA4):c.4532A>G (p.Lys1511Arg)
|
rs2076664922
|
|
NM_003072.5(SMARCA4):c.4533+5C>G
|
|
|
NM_003072.5(SMARCA4):c.4533+6C>G
|
rs1311909722
|
|
NM_003072.5(SMARCA4):c.4534-9C>G
|
rs1271762916
|
|
NM_003072.5(SMARCA4):c.4537C>T (p.Arg1513Cys)
|
rs985886104
|
|
NM_003072.5(SMARCA4):c.4538G>A (p.Arg1513His)
|
rs1600635111
|
|
NM_003072.5(SMARCA4):c.4543C>T (p.Arg1515Cys)
|
rs1166347946
|
|
NM_003072.5(SMARCA4):c.4544G>A (p.Arg1515His)
|
rs1555795341
|
|
NM_003072.5(SMARCA4):c.4544G>T (p.Arg1515Leu)
|
rs1555795341
|
|
NM_003072.5(SMARCA4):c.454G>T (p.Ala152Ser)
|
|
|
NM_003072.5(SMARCA4):c.4553A>G (p.Lys1518Arg)
|
rs2147097206
|
|
NM_003072.5(SMARCA4):c.4558C>T (p.Arg1520Cys)
|
rs1057523119
|
|
NM_003072.5(SMARCA4):c.4559G>A (p.Arg1520His)
|
rs1600635365
|
|
NM_003072.5(SMARCA4):c.4561A>G (p.Ser1521Gly)
|
|
|
NM_003072.5(SMARCA4):c.4568A>G (p.Asn1523Ser)
|
rs1555795360
|
|
NM_003072.5(SMARCA4):c.4569C>A (p.Asn1523Lys)
|
rs34389675
|
|
NM_003072.5(SMARCA4):c.4569C>G (p.Asn1523Lys)
|
|
|
NM_003072.5(SMARCA4):c.4570G>A (p.Asp1524Asn)
|
rs2076693372
|
|
NM_003072.5(SMARCA4):c.4573C>A (p.Leu1525Ile)
|
|
|
NM_003072.5(SMARCA4):c.4576G>C (p.Glu1526Gln)
|
|
|
NM_003072.5(SMARCA4):c.4577A>G (p.Glu1526Gly)
|
|
|
NM_003072.5(SMARCA4):c.4578G>C (p.Glu1526Asp)
|
|
|
NM_003072.5(SMARCA4):c.4588A>G (p.Met1530Val)
|
|
|
NM_003072.5(SMARCA4):c.4589T>A (p.Met1530Lys)
|
rs1600635680
|
|
NM_003072.5(SMARCA4):c.4589T>C (p.Met1530Thr)
|
rs1600635680
|
|
NM_003072.5(SMARCA4):c.458C>A (p.Pro153Gln)
|
rs539710314
|
|
NM_003072.5(SMARCA4):c.4590G>A (p.Met1530Ile)
|
rs1555795386
|
|
NM_003072.5(SMARCA4):c.4591C>A (p.Leu1531Ile)
|
rs1555795394
|
|
NM_003072.5(SMARCA4):c.4598G>A (p.Cys1533Tyr)
|
rs2147098389
|
|
NM_003072.5(SMARCA4):c.4602G>C (p.Gln1534His)
|
rs757889804
|
|
NM_003072.5(SMARCA4):c.4606G>A (p.Ala1536Thr)
|
rs2147098587
|
|
NM_003072.5(SMARCA4):c.4607C>T (p.Ala1536Val)
|
|
|
NM_003072.5(SMARCA4):c.4613C>T (p.Thr1538Ile)
|
rs2076695584
|
|
NM_003072.5(SMARCA4):c.461T>C (p.Leu154Pro)
|
rs1236457430
|
|
NM_003072.5(SMARCA4):c.4624G>A (p.Glu1542Lys)
|
rs1057523176
|
|
NM_003072.5(SMARCA4):c.4635+3G>A
|
rs1568562563
|
|
NM_003072.5(SMARCA4):c.4635+5G>A
|
|
|
NM_003072.5(SMARCA4):c.4635+6G>C
|
rs1164626701
|
|
NM_003072.5(SMARCA4):c.4635G>A (p.Leu1545=)
|
rs2147099255
|
|
NM_003072.5(SMARCA4):c.4636-10C>A
|
rs878854228
|
|
NM_003072.5(SMARCA4):c.4636-13T>C
|
|
|
NM_003072.5(SMARCA4):c.4636-3C>A
|
rs1555795859
|
|
NM_003072.5(SMARCA4):c.4636-3C>T
|
rs1555795859
|
|
NM_003072.5(SMARCA4):c.4640A>G (p.Tyr1547Cys)
|
rs1600643435
|
|
NM_003072.5(SMARCA4):c.4646A>C (p.Asp1549Ala)
|
rs2147113068
|
|
NM_003072.5(SMARCA4):c.4647C>G (p.Asp1549Glu)
|
rs1260006751
|
|
NM_003072.5(SMARCA4):c.4649C>T (p.Ser1550Phe)
|
rs1555795874
|
|
NM_003072.5(SMARCA4):c.4651A>T (p.Ile1551Phe)
|
rs2076750711
|
|
NM_003072.5(SMARCA4):c.4654G>A (p.Val1552Ile)
|
rs1555795880
|
|
NM_003072.5(SMARCA4):c.4655T>A (p.Val1552Asp)
|
rs2147113284
|
|
NM_003072.5(SMARCA4):c.4655T>C (p.Val1552Ala)
|
|
|
NM_003072.5(SMARCA4):c.4660C>G (p.Gln1554Glu)
|
|
|
NM_003072.5(SMARCA4):c.4662G>T (p.Gln1554His)
|
|
|
NM_003072.5(SMARCA4):c.4663T>A (p.Ser1555Thr)
|
|
|
NM_003072.5(SMARCA4):c.4663T>G (p.Ser1555Ala)
|
|
|
NM_003072.5(SMARCA4):c.4664C>G (p.Ser1555Trp)
|
rs1057523990
|
|
NM_003072.5(SMARCA4):c.466G>A (p.Gly156Ser)
|
rs954975906
|
|
NM_003072.5(SMARCA4):c.466G>T (p.Gly156Cys)
|
rs954975906
|
|
NM_003072.5(SMARCA4):c.4672A>G (p.Thr1558Ala)
|
rs1060502083
|
|
NM_003072.5(SMARCA4):c.4673_4675del (p.Thr1558del)
|
rs2076751615
|
|
NM_003072.5(SMARCA4):c.4676G>A (p.Ser1559Asn)
|
|
|
NM_003072.5(SMARCA4):c.4678G>A (p.Val1560Met)
|
rs374983142
|
|
NM_003072.5(SMARCA4):c.4678G>C (p.Val1560Leu)
|
rs374983142
|
|
NM_003072.5(SMARCA4):c.4678G>T (p.Val1560Leu)
|
rs374983142
|
|
NM_003072.5(SMARCA4):c.4679T>A (p.Val1560Glu)
|
|
|
NM_003072.5(SMARCA4):c.467G>A (p.Gly156Asp)
|
rs1555753146
|
|
NM_003072.5(SMARCA4):c.467G>T (p.Gly156Val)
|
rs1555753146
|
|
NM_003072.5(SMARCA4):c.4686G>C (p.Gln1562His)
|
rs1600643911
|
|
NM_003072.5(SMARCA4):c.4692C>G (p.Ile1564Met)
|
|
|
NM_003072.5(SMARCA4):c.4693G>A (p.Glu1565Lys)
|
rs1568564514
|
|
NM_003072.5(SMARCA4):c.4696_4698del (p.Lys1566del)
|
rs1375203306
|
|
NM_003072.5(SMARCA4):c.4697A>T (p.Lys1566Met)
|
rs2076752907
|
|
NM_003072.5(SMARCA4):c.4698GGA[1] (p.Glu1567del)
|
rs1555795933
|
|
NM_003072.5(SMARCA4):c.469G>A (p.Ala157Thr)
|
|
|
NM_003072.5(SMARCA4):c.4700A>G (p.Glu1567Gly)
|
rs1310082332
|
|
NM_003072.5(SMARCA4):c.4700A>T (p.Glu1567Val)
|
|
|
NM_003072.5(SMARCA4):c.4702G>A (p.Asp1568Asn)
|
rs1060502099
|
|
NM_003072.5(SMARCA4):c.4704_4718del (p.Asp1568_Gly1572del)
|
rs1568564616
|
|
NM_003072.5(SMARCA4):c.4706A>G (p.Asp1569Gly)
|
rs2147114941
|
|
NM_003072.5(SMARCA4):c.4706A>T (p.Asp1569Val)
|
|
|
NM_003072.5(SMARCA4):c.4709G>A (p.Ser1570Asn)
|
rs966588548
|
|
NM_003072.5(SMARCA4):c.4709G>T (p.Ser1570Ile)
|
rs966588548
|
|
NM_003072.5(SMARCA4):c.470C>T (p.Ala157Val)
|
rs2145775018
|
|
NM_003072.5(SMARCA4):c.4713A>T (p.Glu1571Asp)
|
|
|
NM_003072.5(SMARCA4):c.4714G>A (p.Gly1572Ser)
|
|
|
NM_003072.5(SMARCA4):c.4715G>A (p.Gly1572Asp)
|
|
|
NM_003072.5(SMARCA4):c.4715G>T (p.Gly1572Val)
|
|
|
NM_003072.5(SMARCA4):c.4719G>C (p.Glu1573Asp)
|
rs1306229985
|
|
NM_003072.5(SMARCA4):c.4725T>A (p.Ser1575Arg)
|
|
|
NM_003072.5(SMARCA4):c.4726G>A (p.Glu1576Lys)
|
|
|
NM_003072.5(SMARCA4):c.4728GGA[2] (p.Glu1580del)
|
rs1555795992
|
|
NM_003072.5(SMARCA4):c.4729G>A (p.Glu1577Lys)
|
|
|
NM_003072.5(SMARCA4):c.4732G>A (p.Glu1578Lys)
|
rs1555795999
|
|
NM_003072.5(SMARCA4):c.4732G>C (p.Glu1578Gln)
|
rs1555795999
|
|
NM_003072.5(SMARCA4):c.4734_4751del (p.Glu1579_Glu1584del)
|
|
|
NM_003072.5(SMARCA4):c.4735G>A (p.Glu1579Lys)
|
rs1568564823
|
|
NM_003072.5(SMARCA4):c.4739_4753del (p.Glu1580_Glu1584del)
|
rs2147115638
|
|
NM_003072.5(SMARCA4):c.4741G>A (p.Gly1581Ser)
|
|
|
NM_003072.5(SMARCA4):c.4741G>T (p.Gly1581Cys)
|
rs1600644688
|
|
NM_003072.5(SMARCA4):c.4742G>A (p.Gly1581Asp)
|
|
|
NM_003072.5(SMARCA4):c.4742_4747dup (p.Gly1581_Glu1582dup)
|
rs2055163263
|
|
NM_003072.5(SMARCA4):c.4749G>C (p.Glu1583Asp)
|
rs1205508248
|
|
NM_003072.5(SMARCA4):c.474C>A (p.Asp158Glu)
|
rs1599950027
|
|
NM_003072.5(SMARCA4):c.4753G>A (p.Gly1585Ser)
|
rs2076756606
|
|
NM_003072.5(SMARCA4):c.4754G>C (p.Gly1585Ala)
|
rs148115492
|
|
NM_003072.5(SMARCA4):c.4757C>G (p.Ser1586Cys)
|
rs773055372
|
|
NM_003072.5(SMARCA4):c.4759G>A (p.Glu1587Lys)
|
rs1568564931
|
|
NM_003072.5(SMARCA4):c.475C>T (p.Pro159Ser)
|
rs2145775190
|
|
NM_003072.5(SMARCA4):c.4765G>A (p.Glu1589Lys)
|
rs141826721
|
|
NM_003072.5(SMARCA4):c.4765G>C (p.Glu1589Gln)
|
|
|
NM_003072.5(SMARCA4):c.4768+15_4768+16delinsCA
|
|
|
NM_003072.5(SMARCA4):c.4768+3G>A
|
rs2076757838
|
|
NM_003072.5(SMARCA4):c.4768+5G>A
|
|
|
NM_003072.5(SMARCA4):c.4768T>C (p.Ser1590Pro)
|
rs1555796035
|
|
NM_003072.5(SMARCA4):c.4769-76_4769-11del
|
|
|
NM_003072.5(SMARCA4):c.4769-9C>G
|
rs1457763107
|
|
NM_003072.5(SMARCA4):c.4769C>T (p.Ser1590Phe)
|
rs2076772762
|
|
NM_003072.5(SMARCA4):c.476C>G (p.Pro159Arg)
|
|
|
NM_003072.5(SMARCA4):c.4772G>C (p.Arg1591Pro)
|
rs1356932636
|
|
NM_003072.5(SMARCA4):c.4777G>T (p.Val1593Phe)
|
|
|
NM_003072.5(SMARCA4):c.4781A>G (p.Lys1594Arg)
|
rs1555796197
|
|
NM_003072.5(SMARCA4):c.4784T>G (p.Val1595Gly)
|
rs1600647899
|
|
NM_003072.5(SMARCA4):c.4789A>G (p.Ile1597Val)
|
rs2076773708
|
|
NM_003072.5(SMARCA4):c.478C>A (p.Gln160Lys)
|
rs2145775329
|
|
NM_003072.5(SMARCA4):c.4790T>A (p.Ile1597Asn)
|
|
|
NM_003072.5(SMARCA4):c.4792A>C (p.Lys1598Gln)
|
rs2076773793
|
|
NM_003072.5(SMARCA4):c.4795C>A (p.Leu1599Ile)
|
rs1060502091
|
|
NM_003072.5(SMARCA4):c.4795C>T (p.Leu1599Phe)
|
rs1060502091
|
|
NM_003072.5(SMARCA4):c.4798G>C (p.Gly1600Arg)
|
rs1600648042
|
|
NM_003072.5(SMARCA4):c.479A>G (p.Gln160Arg)
|
rs2145775356
|
|
NM_003072.5(SMARCA4):c.47C>G (p.Pro16Arg)
|
|
|
NM_003072.5(SMARCA4):c.4805A>C (p.Lys1602Thr)
|
rs1485676007
|
|
NM_003072.5(SMARCA4):c.4807_4809del (p.Glu1603del)
|
rs1600648184
|
|
NM_003072.5(SMARCA4):c.4811A>G (p.Lys1604Arg)
|
rs2076775574
|
|
NM_003072.5(SMARCA4):c.4813G>C (p.Ala1605Pro)
|
rs141224876
|
|
NM_003072.5(SMARCA4):c.4814C>T (p.Ala1605Val)
|
rs2076775823
|
|
NM_003072.5(SMARCA4):c.4817A>C (p.Gln1606Pro)
|
rs878854231
|
|
NM_003072.5(SMARCA4):c.481G>T (p.Ala161Ser)
|
rs1295034696
|
|
NM_003072.5(SMARCA4):c.4821C>G (p.Asp1607Glu)
|
rs2076776364
|
|
NM_003072.5(SMARCA4):c.4822dup (p.Arg1608fs)
|
rs2076776472
|
|
NM_003072.5(SMARCA4):c.4825C>A (p.Leu1609Met)
|
rs878854232
|
|
NM_003072.5(SMARCA4):c.4828A>G (p.Lys1610Glu)
|
|
|
NM_003072.5(SMARCA4):c.4829A>C (p.Lys1610Thr)
|
rs1555796263
|
|
NM_003072.5(SMARCA4):c.4831G>A (p.Gly1611Ser)
|
rs2076777557
|
|
NM_003072.5(SMARCA4):c.4834G>T (p.Gly1612Cys)
|
rs372319442
|
|
NM_003072.5(SMARCA4):c.4838G>A (p.Arg1613Gln)
|
rs1568565957
|
|
NM_003072.5(SMARCA4):c.4838GGC[2] (p.Arg1615del)
|
rs1311890122
|
|
NM_003072.5(SMARCA4):c.4839_4848del (p.Arg1614fs)
|
|
|
NM_003072.5(SMARCA4):c.4840C>T (p.Arg1614Trp)
|
rs1568565971
|
|
NM_003072.5(SMARCA4):c.4841G>A (p.Arg1614Gln)
|
rs878854233
|
|
NM_003072.5(SMARCA4):c.4846C>T (p.Pro1616Ser)
|
rs2147125383
|
|
NM_003072.5(SMARCA4):c.4847C>A (p.Pro1616Gln)
|
rs878854234
|
|
NM_003072.5(SMARCA4):c.4847C>G (p.Pro1616Arg)
|
rs878854234
|
|
NM_003072.5(SMARCA4):c.4850G>T (p.Ser1617Ile)
|
rs1600648852
|
|
NM_003072.5(SMARCA4):c.4851C>A (p.Ser1617Arg)
|
rs1568566076
|
|
NM_003072.5(SMARCA4):c.4852C>T (p.Arg1618Ter)
|
rs1306144699
|
|
NM_003072.5(SMARCA4):c.4853G>C (p.Arg1618Pro)
|
rs1029465394
|
|
NM_003072.5(SMARCA4):c.4853G>T (p.Arg1618Leu)
|
rs1029465394
|
|
NM_003072.5(SMARCA4):c.4859C>T (p.Ser1620Phe)
|
rs1600649021
|
|
NM_003072.5(SMARCA4):c.485T>C (p.Leu162Ser)
|
rs2086028307
|
|
NM_003072.5(SMARCA4):c.4861C>G (p.Arg1621Gly)
|
rs955207258
|
|
NM_003072.5(SMARCA4):c.4861C>T (p.Arg1621Ter)
|
rs955207258
|
|
NM_003072.5(SMARCA4):c.4862G>T (p.Arg1621Leu)
|
|
|
NM_003072.5(SMARCA4):c.4865C>A (p.Ala1622Asp)
|
|
|
NM_003072.5(SMARCA4):c.4867A>T (p.Lys1623Ter)
|
|
|
NM_003072.5(SMARCA4):c.4868A>G (p.Lys1623Arg)
|
rs1600649183
|
|
NM_003072.5(SMARCA4):c.4870C>T (p.Pro1624Ser)
|
rs1555796335
|
|
NM_003072.5(SMARCA4):c.4871C>A (p.Pro1624Gln)
|
rs756255060
|
|
NM_003072.5(SMARCA4):c.4871C>G (p.Pro1624Arg)
|
rs756255060
|
|
NM_003072.5(SMARCA4):c.4873G>T (p.Val1625Phe)
|
rs1600649293
|
|
NM_003072.5(SMARCA4):c.4875C>G (p.Val1625=)
|
|
|
NM_003072.5(SMARCA4):c.4876G>C (p.Val1626Leu)
|
|
|
NM_003072.5(SMARCA4):c.4877T>C (p.Val1626Ala)
|
rs2076781393
|
|
NM_003072.5(SMARCA4):c.4880G>A (p.Ser1627Asn)
|
rs2076781506
|
|
NM_003072.5(SMARCA4):c.4887_4888delinsCT (p.Asp1630Tyr)
|
|
|
NM_003072.5(SMARCA4):c.4887_4888inv (p.Asp1630Asn)
|
|
|
NM_003072.5(SMARCA4):c.4887_4889del (p.Asp1630del)
|
rs2147126620
|
|
NM_003072.5(SMARCA4):c.4888G>C (p.Asp1630His)
|
|
|
NM_003072.5(SMARCA4):c.4889A>G (p.Asp1630Gly)
|
rs2147126711
|
|
NM_003072.5(SMARCA4):c.4890C>A (p.Asp1630Glu)
|
rs918621161
|
|
NM_003072.5(SMARCA4):c.4890C>G (p.Asp1630Glu)
|
rs918621161
|
|
NM_003072.5(SMARCA4):c.4891A>T (p.Ser1631Cys)
|
rs1600649575
|
|
NM_003072.5(SMARCA4):c.4894G>A (p.Glu1632Lys)
|
|
|
NM_003072.5(SMARCA4):c.4897G>A (p.Glu1633Lys)
|
rs2076782634
|
|
NM_003072.5(SMARCA4):c.4900G>T (p.Glu1634Ter)
|
|
|
NM_003072.5(SMARCA4):c.4901A>C (p.Glu1634Ala)
|
|
|
NM_003072.5(SMARCA4):c.4902A>C (p.Glu1634Asp)
|
rs2147127066
|
|
NM_003072.5(SMARCA4):c.4903C>T (p.Gln1635Ter)
|
rs2147127094
|
|
NM_003072.5(SMARCA4):c.4904_4905del (p.Gln1635fs)
|
rs2147127143
|
|
NM_003072.5(SMARCA4):c.4905A>C (p.Gln1635His)
|
rs908806258
|
|
NM_003072.5(SMARCA4):c.4906G>A (p.Glu1636Lys)
|
|
|
NM_003072.5(SMARCA4):c.4909_4910delinsTT (p.Glu1637Leu)
|
rs1600649855
|
|
NM_003072.5(SMARCA4):c.490C>G (p.Gln164Glu)
|
|
|
NM_003072.5(SMARCA4):c.4910_4911+1del
|
rs745740277
|
|
NM_003072.5(SMARCA4):c.4911+3G>A
|
rs2076783963
|
|
NM_003072.5(SMARCA4):c.4911+6G>T
|
rs878854235
|
|
NM_003072.5(SMARCA4):c.4911G>A (p.Glu1637=)
|
rs2147127404
|
|
NM_003072.5(SMARCA4):c.4912-2A>G
|
rs2147157781
|
|
NM_003072.5(SMARCA4):c.4912G>A (p.Asp1638Asn)
|
|
|
NM_003072.5(SMARCA4):c.4916G>T (p.Arg1639Leu)
|
rs867536416
|
|
NM_003072.5(SMARCA4):c.4918T>A (p.Ser1640Thr)
|
rs1568570437
|
|
NM_003072.5(SMARCA4):c.4918T>C (p.Ser1640Pro)
|
rs1568570437
|
|
NM_003072.5(SMARCA4):c.4919C>G (p.Ser1640Ter)
|
|
|
NM_003072.5(SMARCA4):c.4919C>T (p.Ser1640Leu)
|
rs1345181111
|
|
NM_003072.5(SMARCA4):c.4921G>C (p.Gly1641Arg)
|
rs1188692885
|
|
NM_003072.5(SMARCA4):c.4922G>A (p.Gly1641Glu)
|
rs1555797457
|
|
NM_003072.5(SMARCA4):c.4924A>G (p.Ser1642Gly)
|
rs2147158155
|
|
NM_003072.5(SMARCA4):c.4927G>A (p.Gly1643Ser)
|
rs2076917822
|
|
NM_003072.5(SMARCA4):c.492G>T (p.Gln164His)
|
rs1555753201
|
|
NM_003072.5(SMARCA4):c.4933G>A (p.Glu1645Lys)
|
rs1261182514
|
|
NM_003072.5(SMARCA4):c.4935AGA[1] (p.Glu1646del)
|
rs2076918196
|
|
NM_003072.5(SMARCA4):c.4936G>A (p.Glu1646Lys)
|
|
|
NM_003072.5(SMARCA4):c.4939G>T (p.Asp1647Tyr)
|
rs2076918536
|
|
NM_003072.5(SMARCA4):c.4942T>C (p.Ter1648Arg)
|
rs2076918636
|
|
NM_003072.5(SMARCA4):c.4944A>G (p.Ter1648Trp)
|
rs772894995
|
|
NM_003072.5(SMARCA4):c.4944A>T (p.Ter1648Cys)
|
rs772894995
|
|
NM_003072.5(SMARCA4):c.496A>G (p.Asn166Asp)
|
|
|
NM_003072.5(SMARCA4):c.502G>A (p.Gly168Ser)
|
|
|
NM_003072.5(SMARCA4):c.503G>A (p.Gly168Asp)
|
rs1171738627
|
|
NM_003072.5(SMARCA4):c.505C>G (p.Pro169Ala)
|
|
|
NM_003072.5(SMARCA4):c.508A>C (p.Thr170Pro)
|
rs773273784
|
|
NM_003072.5(SMARCA4):c.508A>G (p.Thr170Ala)
|
|
|
NM_003072.5(SMARCA4):c.509C>T (p.Thr170Ile)
|
rs762871878
|
|
NM_003072.5(SMARCA4):c.50C>T (p.Ser17Phe)
|
rs2085806321
|
|
NM_003072.5(SMARCA4):c.511C>A (p.Pro171Thr)
|
rs1599950466
|
|
NM_003072.5(SMARCA4):c.511C>T (p.Pro171Ser)
|
rs1599950466
|
|
NM_003072.5(SMARCA4):c.526C>G (p.Gln176Glu)
|
rs2086031789
|
|
NM_003072.5(SMARCA4):c.529C>G (p.Leu177Val)
|
rs1555753296
|
|
NM_003072.5(SMARCA4):c.532C>T (p.His178Tyr)
|
rs2145777525
|
|
NM_003072.5(SMARCA4):c.534C>G (p.His178Gln)
|
rs759429379
|
|
NM_003072.5(SMARCA4):c.53C>T (p.Pro18Leu)
|
rs1060502087
|
|
NM_003072.5(SMARCA4):c.544G>A (p.Ala182Thr)
|
rs1599950706
|
|
NM_003072.5(SMARCA4):c.544G>T (p.Ala182Ser)
|
|
|
NM_003072.5(SMARCA4):c.54_71del (p.14PGPSPG[1])
|
|
|
NM_003072.5(SMARCA4):c.553A>G (p.Met185Val)
|
rs1568422504
|
|
NM_003072.5(SMARCA4):c.557C>T (p.Ala186Val)
|
rs942370486
|
|
NM_003072.5(SMARCA4):c.563A>G (p.Lys188Arg)
|
rs2086034556
|
|
NM_003072.5(SMARCA4):c.565A>T (p.Met189Leu)
|
|
|
NM_003072.5(SMARCA4):c.566T>A (p.Met189Lys)
|
|
|
NM_003072.5(SMARCA4):c.56G>C (p.Gly19Ala)
|
rs1222542093
|
|
NM_003072.5(SMARCA4):c.571G>A (p.Ala191Thr)
|
rs759257627
|
|
NM_003072.5(SMARCA4):c.571G>T (p.Ala191Ser)
|
rs759257627
|
|
NM_003072.5(SMARCA4):c.574A>T (p.Arg192Trp)
|
rs2086035121
|
|
NM_003072.5(SMARCA4):c.575G>A (p.Arg192Lys)
|
rs1599950890
|
|
NM_003072.5(SMARCA4):c.577G>A (p.Gly193Arg)
|
rs1568422547
|
|
NM_003072.5(SMARCA4):c.578G>T (p.Gly193Val)
|
rs767036812
|
|
NM_003072.5(SMARCA4):c.580C>A (p.Gln194Lys)
|
rs1599950960
|
|
NM_003072.5(SMARCA4):c.581A>G (p.Gln194Arg)
|
rs760076866
|
|
NM_003072.5(SMARCA4):c.583C>G (p.Pro195Ala)
|
|
|
NM_003072.5(SMARCA4):c.586C>T (p.Leu196Phe)
|
rs1199851876
|
|
NM_003072.5(SMARCA4):c.589C>A (p.Pro197Thr)
|
|
|
NM_003072.5(SMARCA4):c.590C>T (p.Pro197Leu)
|
rs988231473
|
|
NM_003072.5(SMARCA4):c.592G>A (p.Asp198Asn)
|
rs1195533596
|
|
NM_003072.5(SMARCA4):c.593A>G (p.Asp198Gly)
|
rs2086038072
|
|
NM_003072.5(SMARCA4):c.604A>G (p.Met202Val)
|
rs1599951271
|
|
NM_003072.5(SMARCA4):c.606G>A (p.Met202Ile)
|
rs2086039435
|
|
NM_003072.5(SMARCA4):c.607G>A (p.Ala203Thr)
|
rs2086039624
|
|
NM_003072.5(SMARCA4):c.610G>A (p.Val204Met)
|
rs1599951334
|
|
NM_003072.5(SMARCA4):c.613C>G (p.Gln205Glu)
|
|
|
NM_003072.5(SMARCA4):c.614A>G (p.Gln205Arg)
|
rs2086040527
|
|
NM_003072.5(SMARCA4):c.626C>G (p.Pro209Arg)
|
rs778071122
|
|
NM_003072.5(SMARCA4):c.628A>C (p.Met210Leu)
|
rs2086042007
|
|
NM_003072.5(SMARCA4):c.628A>T (p.Met210Leu)
|
|
|
NM_003072.5(SMARCA4):c.629T>A (p.Met210Lys)
|
rs749404527
|
|
NM_003072.5(SMARCA4):c.630G>A (p.Met210Ile)
|
rs1043452739
|
|
NM_003072.5(SMARCA4):c.630G>C (p.Met210Ile)
|
rs1043452739
|
|
NM_003072.5(SMARCA4):c.631C>G (p.Pro211Ala)
|
rs2145781120
|
|
NM_003072.5(SMARCA4):c.631C>T (p.Pro211Ser)
|
rs2145781120
|
|
NM_003072.5(SMARCA4):c.634G>A (p.Gly212Arg)
|
rs886937766
|
|
NM_003072.5(SMARCA4):c.637A>G (p.Met213Val)
|
rs2145781361
|
|
NM_003072.5(SMARCA4):c.639G>A (p.Met213Ile)
|
|
|
NM_003072.5(SMARCA4):c.640CAG[2] (p.Gln216del)
|
rs2086043699
|
|
NM_003072.5(SMARCA4):c.648G>T (p.Gln216His)
|
|
|
NM_003072.5(SMARCA4):c.649A>G (p.Met217Val)
|
rs2145781758
|
|
NM_003072.5(SMARCA4):c.64C>G (p.Pro22Ala)
|
|
|
NM_003072.5(SMARCA4):c.64C>T (p.Pro22Ser)
|
rs2085807805
|
|
NM_003072.5(SMARCA4):c.652C>G (p.Pro218Ala)
|
rs1220576417
|
|
NM_003072.5(SMARCA4):c.652C>T (p.Pro218Ser)
|
rs1220576417
|
|
NM_003072.5(SMARCA4):c.659T>C (p.Leu220Pro)
|
rs1057422480
|
|
NM_003072.5(SMARCA4):c.65C>A (p.Pro22His)
|
rs1227659334
|
|
NM_003072.5(SMARCA4):c.65C>G (p.Pro22Arg)
|
rs1227659334
|
|
NM_003072.5(SMARCA4):c.661C>T (p.Pro221Ser)
|
rs1417452362
|
|
NM_003072.5(SMARCA4):c.662C>A (p.Pro221His)
|
rs1599952032
|
|
NM_003072.5(SMARCA4):c.662C>T (p.Pro221Leu)
|
rs1599952032
|
|
NM_003072.5(SMARCA4):c.667C>T (p.Pro223Ser)
|
|
|
NM_003072.5(SMARCA4):c.668C>T (p.Pro223Leu)
|
rs2145782523
|
|
NM_003072.5(SMARCA4):c.674T>C (p.Val225Ala)
|
|
|
NM_003072.5(SMARCA4):c.677C>G (p.Ser226Cys)
|
|
|
NM_003072.5(SMARCA4):c.678C>A (p.Ser226=)
|
rs878854237
|
|
NM_003072.5(SMARCA4):c.679G>A (p.Ala227Thr)
|
rs769096295
|
|
NM_003072.5(SMARCA4):c.680C>T (p.Ala227Val)
|
rs1599952268
|
|
NM_003072.5(SMARCA4):c.683C>A (p.Thr228Lys)
|
rs2145783138
|
|
NM_003072.5(SMARCA4):c.684_707dup (p.229GP[12])
|
rs754049390
|
|
NM_003072.5(SMARCA4):c.684_731dup (p.Pro244_Ala245insGlyProGlyProGlyProGlyProGlyProGlyProGlyProGlyPro)
|
|
|
NM_003072.5(SMARCA4):c.686G>C (p.Gly229Ala)
|
rs2086048500
|
|
NM_003072.5(SMARCA4):c.688C>A (p.Pro230Thr)
|
rs760294422
|
|
NM_003072.5(SMARCA4):c.688C>T (p.Pro230Ser)
|
rs760294422
|
|
NM_003072.5(SMARCA4):c.68C>A (p.Ser23Tyr)
|
rs1555750712
|
|
NM_003072.5(SMARCA4):c.68C>G (p.Ser23Cys)
|
rs1555750712
|
|
NM_003072.5(SMARCA4):c.68C>T (p.Ser23Phe)
|
rs1555750712
|
|
NM_003072.5(SMARCA4):c.691G>T (p.Gly231Cys)
|
rs555467836
|
|
NM_003072.5(SMARCA4):c.692G>T (p.Gly231Val)
|
|
|
NM_003072.5(SMARCA4):c.692_693insGCCTGG (p.229GP[9])
|
rs2145783521
|
|
NM_003072.5(SMARCA4):c.694_695insTTGGCC (p.Gly231_Pro232insLeuGly)
|
rs1555753619
|
|
NM_003072.5(SMARCA4):c.695C>G (p.Pro232Arg)
|
rs1314009255
|
|
NM_003072.5(SMARCA4):c.695_696insGGGCCC (p.229GP[9])
|
rs1555753627
|
|
NM_003072.5(SMARCA4):c.696TGGCCC[2] (p.229GP[7])
|
rs372601826
|
|
NM_003072.5(SMARCA4):c.696TGGCCC[4] (p.229GP[9])
|
rs372601826
|
|
NM_003072.5(SMARCA4):c.696TGGCCC[5] (p.229GP[10])
|
rs372601826
|
|
NM_003072.5(SMARCA4):c.696_719del (p.229GP[4])
|
rs1568423251
|
|
NM_003072.5(SMARCA4):c.696_719dup (p.229_230GP[12])
|
rs1568423251
|
|
NM_003072.5(SMARCA4):c.696_731del (p.229GP[2])
|
rs1599952392
|
|
NM_003072.5(SMARCA4):c.698G>A (p.Gly233Asp)
|
rs878854238
|
|
NM_003072.5(SMARCA4):c.698G>C (p.Gly233Ala)
|
|
|
NM_003072.5(SMARCA4):c.698_699insACCTGG (p.229GP[9])
|
rs2086051201
|
|
NM_003072.5(SMARCA4):c.699_722del (p.229GP[4])
|
rs1599952661
|
|
NM_003072.5(SMARCA4):c.701C>G (p.Pro234Arg)
|
rs572494136
|
|
NM_003072.5(SMARCA4):c.701C>T (p.Pro234Leu)
|
rs572494136
|
|
NM_003072.5(SMARCA4):c.702_719dup (p.229GP[11])
|
rs2086051828
|
|
NM_003072.5(SMARCA4):c.702_725del (p.229GP[4])
|
|
|
NM_003072.5(SMARCA4):c.704G>A (p.Gly235Asp)
|
rs1240479086
|
|
NM_003072.5(SMARCA4):c.705_707dup (p.Pro236dup)
|
rs2086054549
|
|
NM_003072.5(SMARCA4):c.707C>T (p.Pro236Leu)
|
rs1555753713
|
|
NM_003072.5(SMARCA4):c.708_719del (p.229GP[6])
|
rs1555753680
|
|
NM_003072.5(SMARCA4):c.708_719dup (p.229GP[10])
|
rs1555753680
|
|
NM_003072.5(SMARCA4):c.708_731del (p.229_230GP[4])
|
rs1555753690
|
|
NM_003072.5(SMARCA4):c.708_731dup (p.229GP[12])
|
rs1555753690
|
|
NM_003072.5(SMARCA4):c.709G>A (p.Gly237Ser)
|
rs1555753727
|
|
NM_003072.5(SMARCA4):c.70C>G (p.Pro24Ala)
|
rs1060502057
|
|
NM_003072.5(SMARCA4):c.70C>T (p.Pro24Ser)
|
rs1060502057
|
|
NM_003072.5(SMARCA4):c.713_714inv (p.Pro238Arg)
|
|
|
NM_003072.5(SMARCA4):c.714_719del (p.229GP[7])
|
rs1555753732
|
|
NM_003072.5(SMARCA4):c.714_719dup (p.229GP[9])
|
rs1555753732
|
|
NM_003072.5(SMARCA4):c.714_731dup (p.229GP[11])
|
rs1568423542
|
|
NM_003072.5(SMARCA4):c.715G>T (p.Gly239Cys)
|
rs761515593
|
|
NM_003072.5(SMARCA4):c.716G>T (p.Gly239Val)
|
rs1161508952
|
|
NM_003072.5(SMARCA4):c.719_720insTGGCCCTGGCCCCGGCCCGGGTCCCGGCCC (p.229GP[13])
|
rs2086056046
|
|
NM_003072.5(SMARCA4):c.71C>G (p.Pro24Arg)
|
rs772230026
|
|
NM_003072.5(SMARCA4):c.721G>A (p.Gly241Ser)
|
|
|
NM_003072.5(SMARCA4):c.721G>T (p.Gly241Cys)
|
rs1599953263
|
|
NM_003072.5(SMARCA4):c.722_733dup (p.229GP[10])
|
rs568390760
|
|
NM_003072.5(SMARCA4):c.724C>T (p.Pro242Ser)
|
rs1555753773
|
|
NM_003072.5(SMARCA4):c.725C>T (p.Pro242Leu)
|
rs2145785202
|
|
NM_003072.5(SMARCA4):c.726_731dup (p.229_230GP[9])
|
rs2086059171
|
|
NM_003072.5(SMARCA4):c.730C>T (p.Pro244Ser)
|
rs2145785383
|
|
NM_003072.5(SMARCA4):c.731C>G (p.Pro244Arg)
|
rs587778683
|
|
NM_003072.5(SMARCA4):c.733G>A (p.Ala245Thr)
|
rs2086060359
|
|
NM_003072.5(SMARCA4):c.734C>T (p.Ala245Val)
|
|
|
NM_003072.5(SMARCA4):c.736C>A (p.Pro246Thr)
|
rs1555753804
|
|
NM_003072.5(SMARCA4):c.736C>T (p.Pro246Ser)
|
rs1555753804
|
|
NM_003072.5(SMARCA4):c.737_738insCGGCCCTGGCCCTGGCCCCGGCCCGGGTCCCGGCCCGGCACC (p.Pro246_Pro247insGlyProGlyProGlyProGlyProGlyProGlyProAlaPro)
|
|
|
NM_003072.5(SMARCA4):c.739C>T (p.Pro247Ser)
|
|
|
NM_003072.5(SMARCA4):c.73G>A (p.Gly25Arg)
|
rs1568416887
|
|
NM_003072.5(SMARCA4):c.742A>G (p.Asn248Asp)
|
rs1599953506
|
|
NM_003072.5(SMARCA4):c.743A>G (p.Asn248Ser)
|
rs1568423807
|
|
NM_003072.5(SMARCA4):c.749G>A (p.Ser250Asn)
|
|
|
NM_003072.5(SMARCA4):c.74_76del (p.Gly25del)
|
rs1568416902
|
|
NM_003072.5(SMARCA4):c.750C>T (p.Ser250=)
|
rs1242616857
|
|
NM_003072.5(SMARCA4):c.752G>C (p.Arg251Thr)
|
rs1599953658
|
|
NM_003072.5(SMARCA4):c.753G>T (p.Arg251Ser)
|
rs2145786174
|
|
NM_003072.5(SMARCA4):c.758A>G (p.His253Arg)
|
rs2086063382
|
|
NM_003072.5(SMARCA4):c.760+4A>G
|
rs1213865421
|
|
NM_003072.5(SMARCA4):c.760G>A (p.Gly254Ser)
|
rs1060502071
|
|
NM_003072.5(SMARCA4):c.761-3T>C
|
|
|
NM_003072.5(SMARCA4):c.761-3T>G
|
rs1555754119
|
|
NM_003072.5(SMARCA4):c.761G>T (p.Gly254Val)
|
|
|
NM_003072.5(SMARCA4):c.765G>A (p.Met255Ile)
|
rs2145795052
|
|
NM_003072.5(SMARCA4):c.767G>A (p.Gly256Glu)
|
|
|
NM_003072.5(SMARCA4):c.770G>A (p.Gly257Glu)
|
rs1343719999
|
|
NM_003072.5(SMARCA4):c.770G>T (p.Gly257Val)
|
|
|
NM_003072.5(SMARCA4):c.775A>C (p.Asn259His)
|
rs764641221
|
|
NM_003072.5(SMARCA4):c.778A>G (p.Met260Val)
|
rs1064795842
|
|
NM_003072.5(SMARCA4):c.77C>T (p.Ala26Val)
|
rs1599928845
|
|
NM_003072.5(SMARCA4):c.780G>A (p.Met260Ile)
|
rs753962571
|
|
NM_003072.5(SMARCA4):c.782C>A (p.Pro261His)
|
rs757327891
|
|
NM_003072.5(SMARCA4):c.782C>T (p.Pro261Leu)
|
rs757327891
|
|
NM_003072.5(SMARCA4):c.790G>A (p.Gly264Arg)
|
rs746036083
|
|
NM_003072.5(SMARCA4):c.791G>A (p.Gly264Glu)
|
rs797045988
|
|
NM_003072.5(SMARCA4):c.791G>C (p.Gly264Ala)
|
rs797045988
|
|
NM_003072.5(SMARCA4):c.791G>T (p.Gly264Val)
|
rs797045988
|
|
NM_003072.5(SMARCA4):c.792_812dup (p.Gly271_Met272insProSerGlyValProProGly)
|
|
|
NM_003072.5(SMARCA4):c.793C>T (p.Pro265Ser)
|
rs2145796084
|
|
NM_003072.5(SMARCA4):c.794C>A (p.Pro265His)
|
|
|
NM_003072.5(SMARCA4):c.794C>T (p.Pro265Leu)
|
|
|
NM_003072.5(SMARCA4):c.797C>G (p.Ser266Trp)
|
|
|
NM_003072.5(SMARCA4):c.799G>A (p.Gly267Ser)
|
rs2086105423
|
|
NM_003072.5(SMARCA4):c.7A>C (p.Thr3Pro)
|
rs1599927930
|
|
NM_003072.5(SMARCA4):c.7A>G (p.Thr3Ala)
|
|
|
NM_003072.5(SMARCA4):c.800G>A (p.Gly267Asp)
|
rs746986969
|
|
NM_003072.5(SMARCA4):c.800G>T (p.Gly267Val)
|
|
|
NM_003072.5(SMARCA4):c.803T>C (p.Val268Ala)
|
rs1568424854
|
|
NM_003072.5(SMARCA4):c.803T>G (p.Val268Gly)
|
rs1568424854
|
|
NM_003072.5(SMARCA4):c.803_811del (p.Val268_Pro270del)
|
rs1555754225
|
|
NM_003072.5(SMARCA4):c.806C>T (p.Pro269Leu)
|
rs2145796622
|
|
NM_003072.5(SMARCA4):c.808C>G (p.Pro270Ala)
|
rs1599957743
|
|
NM_003072.5(SMARCA4):c.808C>T (p.Pro270Ser)
|
rs1599957743
|
|
NM_003072.5(SMARCA4):c.809C>G (p.Pro270Arg)
|
rs1568424897
|
|
NM_003072.5(SMARCA4):c.809C>T (p.Pro270Leu)
|
rs1568424897
|
|
NM_003072.5(SMARCA4):c.80T>C (p.Met27Thr)
|
|
|
NM_003072.5(SMARCA4):c.812G>A (p.Gly271Glu)
|
|
|
NM_003072.5(SMARCA4):c.812G>C (p.Gly271Ala)
|
|
|
NM_003072.5(SMARCA4):c.814A>G (p.Met272Val)
|
rs1432832082
|
|
NM_003072.5(SMARCA4):c.820G>C (p.Gly274Arg)
|
|
|
NM_003072.5(SMARCA4):c.826C>A (p.Pro276Thr)
|
rs1238171014
|
|
NM_003072.5(SMARCA4):c.826C>T (p.Pro276Ser)
|
|
|
NM_003072.5(SMARCA4):c.827C>T (p.Pro276Leu)
|
rs2145797391
|
|
NM_003072.5(SMARCA4):c.82C>A (p.Leu28Met)
|
rs776688705
|
|
NM_003072.5(SMARCA4):c.830C>T (p.Pro277Leu)
|
|
|
NM_003072.5(SMARCA4):c.836G>T (p.Gly279Val)
|
|
|
NM_003072.5(SMARCA4):c.838C>G (p.Pro280Ala)
|
|
|
NM_003072.5(SMARCA4):c.83_94del (p.Leu28_Ser31del)
|
rs2145722640
|
|
NM_003072.5(SMARCA4):c.841C>T (p.Pro281Ser)
|
|
|
NM_003072.5(SMARCA4):c.842C>T (p.Pro281Leu)
|
|
|
NM_003072.5(SMARCA4):c.846G>T (p.Lys282Asn)
|
rs1263337559
|
|
NM_003072.5(SMARCA4):c.848C>T (p.Pro283Leu)
|
rs1568425141
|
|
NM_003072.5(SMARCA4):c.853C>T (p.Pro285Ser)
|
rs763957291
|
|
NM_003072.5(SMARCA4):c.854C>T (p.Pro285Leu)
|
|
|
NM_003072.5(SMARCA4):c.856G>A (p.Glu286Lys)
|
|
|
NM_003072.5(SMARCA4):c.858A>G (p.Glu286=)
|
|
|
NM_003072.5(SMARCA4):c.858A>T (p.Glu286Asp)
|
rs2145798320
|
|
NM_003072.5(SMARCA4):c.859+3G>A
|
rs1599958336
|
|
NM_003072.5(SMARCA4):c.859+5G>C
|
|
|
NM_003072.5(SMARCA4):c.859+6C>T
|
rs1185878570
|
|
NM_003072.5(SMARCA4):c.859G>C (p.Gly287Arg)
|
|
|
NM_003072.5(SMARCA4):c.860-20G>A
|
|
|
NM_003072.5(SMARCA4):c.860-3C>T
|
rs1158136597
|
|
NM_003072.5(SMARCA4):c.860-4C>G
|
|
|
NM_003072.5(SMARCA4):c.860G>A (p.Gly287Glu)
|
rs2086175577
|
|
NM_003072.5(SMARCA4):c.862C>G (p.Pro288Ala)
|
|
|
NM_003072.5(SMARCA4):c.862C>T (p.Pro288Ser)
|
rs199573401
|
|
NM_003072.5(SMARCA4):c.863C>T (p.Pro288Leu)
|
rs1026742588
|
|
NM_003072.5(SMARCA4):c.865A>T (p.Met289Leu)
|
rs750547893
|
|
NM_003072.5(SMARCA4):c.866T>C (p.Met289Thr)
|
rs878854243
|
|
NM_003072.5(SMARCA4):c.866T>G (p.Met289Arg)
|
|
|
NM_003072.5(SMARCA4):c.867G>T (p.Met289Ile)
|
rs1338574365
|
|
NM_003072.5(SMARCA4):c.868G>A (p.Ala290Thr)
|
|
|
NM_003072.5(SMARCA4):c.86G>A (p.Gly29Asp)
|
rs2145722799
|
|
NM_003072.5(SMARCA4):c.86G>T (p.Gly29Val)
|
|
|
NM_003072.5(SMARCA4):c.871A>G (p.Asn291Asp)
|
rs1555754777
|
|
NM_003072.5(SMARCA4):c.872A>G (p.Asn291Ser)
|
rs751791309
|
|
NM_003072.5(SMARCA4):c.874G>A (p.Ala292Thr)
|
|
|
NM_003072.5(SMARCA4):c.875C>G (p.Ala292Gly)
|
|
|
NM_003072.5(SMARCA4):c.877G>A (p.Ala293Thr)
|
rs754742854
|
|
NM_003072.5(SMARCA4):c.880G>T (p.Ala294Ser)
|
rs1599966074
|
|
NM_003072.5(SMARCA4):c.881C>T (p.Ala294Val)
|
|
|
NM_003072.5(SMARCA4):c.883C>G (p.Pro295Ala)
|
rs970190031
|
|
NM_003072.5(SMARCA4):c.884C>T (p.Pro295Leu)
|
|
|
NM_003072.5(SMARCA4):c.88C>T (p.Pro30Ser)
|
rs1599928968
|
|
NM_003072.5(SMARCA4):c.891C>A (p.Ser297Arg)
|
|
|
NM_003072.5(SMARCA4):c.892A>G (p.Thr298Ala)
|
rs878854244
|
|
NM_003072.5(SMARCA4):c.892A>T (p.Thr298Ser)
|
rs878854244
|
|
NM_003072.5(SMARCA4):c.893C>T (p.Thr298Ile)
|
rs748459210
|
|
NM_003072.5(SMARCA4):c.895C>T (p.Pro299Ser)
|
rs2086180113
|
|
NM_003072.5(SMARCA4):c.896C>A (p.Pro299His)
|
|
|
NM_003072.5(SMARCA4):c.896C>T (p.Pro299Leu)
|
rs770464856
|
|
NM_003072.5(SMARCA4):c.8C>A (p.Thr3Asn)
|
|
|
NM_003072.5(SMARCA4):c.8C>T (p.Thr3Ile)
|
rs1339941779
|
|
NM_003072.5(SMARCA4):c.904C>A (p.Leu302Met)
|
|
|
NM_003072.5(SMARCA4):c.907A>G (p.Ile303Val)
|
|
|
NM_003072.5(SMARCA4):c.910C>A (p.Pro304Thr)
|
|
|
NM_003072.5(SMARCA4):c.910C>G (p.Pro304Ala)
|
rs745462998
|
|
NM_003072.5(SMARCA4):c.910C>T (p.Pro304Ser)
|
|
|
NM_003072.5(SMARCA4):c.911C>A (p.Pro304His)
|
rs2086181376
|
|
NM_003072.5(SMARCA4):c.914C>G (p.Pro305Arg)
|
rs138097741
|
|
NM_003072.5(SMARCA4):c.915_916delinsCA (p.Gln306Lys)
|
rs1568426539
|
|
NM_003072.5(SMARCA4):c.918G>C (p.Gln306His)
|
|
|
NM_003072.5(SMARCA4):c.920C>T (p.Pro307Leu)
|
rs762139955
|
|
NM_003072.5(SMARCA4):c.923C>T (p.Thr308Met)
|
rs770322996
|
|
NM_003072.5(SMARCA4):c.928C>T (p.Arg310Cys)
|
rs1555754899
|
|
NM_003072.5(SMARCA4):c.929G>C (p.Arg310Pro)
|
rs766422429
|
|
NM_003072.5(SMARCA4):c.931C>T (p.Pro311Ser)
|
rs1323531288
|
|
NM_003072.5(SMARCA4):c.935C>A (p.Ser312Tyr)
|
rs767826277
|
|
NM_003072.5(SMARCA4):c.937C>G (p.Pro313Ala)
|
|
|
NM_003072.5(SMARCA4):c.938C>T (p.Pro313Leu)
|
|
|
NM_003072.5(SMARCA4):c.940G>C (p.Ala314Pro)
|
|
|
NM_003072.5(SMARCA4):c.940_941delinsTT (p.Ala314Leu)
|
rs2145816680
|
|
NM_003072.5(SMARCA4):c.944C>A (p.Pro315His)
|
|
|
NM_003072.5(SMARCA4):c.944C>T (p.Pro315Leu)
|
rs1170997392
|
|
NM_003072.5(SMARCA4):c.948T>A (p.Pro316=)
|
rs1599968129
|
|
NM_003072.5(SMARCA4):c.949G>A (p.Ala317Thr)
|
|
|
NM_003072.5(SMARCA4):c.950_951delinsTT (p.Ala317Val)
|
|
|
NM_003072.5(SMARCA4):c.951C>A (p.Ala317=)
|
rs377511733
|
|
NM_003072.5(SMARCA4):c.955C>T (p.Pro319Ser)
|
rs1555755005
|
|
NM_003072.5(SMARCA4):c.959C>T (p.Pro320Leu)
|
rs1060502062
|
|
NM_003072.5(SMARCA4):c.95C>G (p.Pro32Arg)
|
|
|
NM_003072.5(SMARCA4):c.960_961delinsAA (p.Ala321Thr)
|
rs2145817552
|
|
NM_003072.5(SMARCA4):c.962_973dup (p.Pro324_Val325insAlaAlaSerPro)
|
|
|
NM_003072.5(SMARCA4):c.963C>A (p.Ala321=)
|
rs371214843
|
|
NM_003072.5(SMARCA4):c.964G>A (p.Ala322Thr)
|
rs1060502089
|
|
NM_003072.5(SMARCA4):c.964G>T (p.Ala322Ser)
|
rs1060502089
|
|
NM_003072.5(SMARCA4):c.968C>T (p.Ser323Leu)
|
rs886054151
|
|
NM_003072.5(SMARCA4):c.970C>T (p.Pro324Ser)
|
rs926054421
|
|
NM_003072.5(SMARCA4):c.973G>C (p.Val325Leu)
|
|
|
NM_003072.5(SMARCA4):c.976A>G (p.Met326Val)
|
|
|
NM_003072.5(SMARCA4):c.976A>T (p.Met326Leu)
|
rs1599968988
|
|
NM_003072.5(SMARCA4):c.978G>A (p.Met326Ile)
|
rs1568426962
|
|
NM_003072.5(SMARCA4):c.978G>C (p.Met326Ile)
|
rs1568426962
|
|
NM_003072.5(SMARCA4):c.980C>T (p.Pro327Leu)
|
rs1236526844
|
|
NM_003072.5(SMARCA4):c.983C>A (p.Pro328Gln)
|
|
|
NM_003072.5(SMARCA4):c.987G>C (p.Gln329His)
|
|
|
NM_003072.5(SMARCA4):c.989C>T (p.Thr330Ile)
|
rs1555755082
|
|
NM_003072.5(SMARCA4):c.995C>A (p.Ser332Tyr)
|
rs1013942482
|
|
NM_003072.5(SMARCA4):c.995C>G (p.Ser332Cys)
|
rs1013942482
|
|
NM_003072.5(SMARCA4):c.995C>T (p.Ser332Phe)
|
rs1013942482
|
|
NM_003072.5(SMARCA4):c.997C>T (p.Pro333Ser)
|
rs1599969686
|
|
NM_003073.5(SMARCB1):c.712G>T (p.Ala238Ser)
|
|
|
NM_003079.5(SMARCE1):c.1005C>A (p.Asp335Glu)
|
|
|
NM_003079.5(SMARCE1):c.1008G>C (p.Glu336Asp)
|
rs1323477202
|
|
NM_003079.5(SMARCE1):c.1009A>T (p.Asn337Tyr)
|
rs2037085057
|
|
NM_003079.5(SMARCE1):c.1018A>G (p.Met340Val)
|
|
|
NM_003079.5(SMARCE1):c.1018A>T (p.Met340Leu)
|
|
|
NM_003079.5(SMARCE1):c.1020G>T (p.Met340Ile)
|
|
|
NM_003079.5(SMARCE1):c.1023G>C (p.Glu341Asp)
|
|
|
NM_003079.5(SMARCE1):c.1025C>G (p.Thr342Arg)
|
rs367908836
|
|
NM_003079.5(SMARCE1):c.1027+6C>A
|
|
|
NM_003079.5(SMARCE1):c.1027+6C>G
|
rs1245988748
|
|
NM_003079.5(SMARCE1):c.1028A>C (p.Glu343Ala)
|
|
|
NM_003079.5(SMARCE1):c.1030G>A (p.Glu344Lys)
|
rs1413261743
|
|
NM_003079.5(SMARCE1):c.1033A>C (p.Thr345Pro)
|
rs1597741316
|
|
NM_003079.5(SMARCE1):c.1033A>G (p.Thr345Ala)
|
rs1597741316
|
|
NM_003079.5(SMARCE1):c.1034C>G (p.Thr345Arg)
|
rs1597741310
|
|
NM_003079.5(SMARCE1):c.1036C>A (p.His346Asn)
|
rs751700497
|
|
NM_003079.5(SMARCE1):c.1037A>G (p.His346Arg)
|
|
|
NM_003079.5(SMARCE1):c.1038C>G (p.His346Gln)
|
rs1597741306
|
|
NM_003079.5(SMARCE1):c.1043A>G (p.Glu348Gly)
|
rs2037063064
|
|
NM_003079.5(SMARCE1):c.1049C>G (p.Thr350Arg)
|
|
|
NM_003079.5(SMARCE1):c.1052C>G (p.Thr351Arg)
|
rs932391748
|
|
NM_003079.5(SMARCE1):c.1053_1054delinsTA (p.Glu352Lys)
|
|
|
NM_003079.5(SMARCE1):c.1054G>A (p.Glu352Lys)
|
rs2143980865
|
|
NM_003079.5(SMARCE1):c.1054G>C (p.Glu352Gln)
|
|
|
NM_003079.5(SMARCE1):c.1057A>C (p.Ser353Arg)
|
rs2037062951
|
|
NM_003079.5(SMARCE1):c.1057A>G (p.Ser353Gly)
|
rs2037062951
|
|
NM_003079.5(SMARCE1):c.1057_1058del (p.Ser353fs)
|
|
|
NM_003079.5(SMARCE1):c.1058G>A (p.Ser353Asn)
|
rs2143980847
|
|
NM_003079.5(SMARCE1):c.1061A>G (p.Gln354Arg)
|
|
|
NM_003079.5(SMARCE1):c.1064A>G (p.Gln355Arg)
|
rs1567844710
|
|
NM_003079.5(SMARCE1):c.1066_1067insGTTCTTCACAACAGA (p.Gln355_Asn356insSerSerSerGlnGln)
|
rs2143980822
|
|
NM_003079.5(SMARCE1):c.1068_1076dup (p.Glu358_Glu359insAspGlyGlu)
|
|
|
NM_003079.5(SMARCE1):c.1070G>A (p.Gly357Asp)
|
rs2143980805
|
|
NM_003079.5(SMARCE1):c.1073AAG[1] (p.Glu359del)
|
rs765354113
|
|
NM_003079.5(SMARCE1):c.1075G>A (p.Glu359Lys)
|
|
|
NM_003079.5(SMARCE1):c.1075G>T (p.Glu359Ter)
|
|
|
NM_003079.5(SMARCE1):c.1078G>C (p.Gly360Arg)
|
rs976928947
|
|
NM_003079.5(SMARCE1):c.107A>G (p.Tyr36Cys)
|
|
|
NM_003079.5(SMARCE1):c.1081A>G (p.Thr361Ala)
|
rs2143980763
|
|
NM_003079.5(SMARCE1):c.1084T>C (p.Ser362Pro)
|
rs750183985
|
|
NM_003079.5(SMARCE1):c.1086_1087delinsAT (p.Thr363Ser)
|
rs2037062544
|
|
NM_003079.5(SMARCE1):c.1087A>G (p.Thr363Ala)
|
rs1555605096
|
|
NM_003079.5(SMARCE1):c.1088C>G (p.Thr363Ser)
|
rs1247688181
|
|
NM_003079.5(SMARCE1):c.1088C>T (p.Thr363Ile)
|
|
|
NM_003079.5(SMARCE1):c.1090C>G (p.Pro364Ala)
|
rs1205865722
|
|
NM_003079.5(SMARCE1):c.1090_1092del (p.Pro364del)
|
rs1555605093
|
|
NM_003079.5(SMARCE1):c.1102G>T (p.Glu368Ter)
|
rs2037062233
|
|
NM_003079.5(SMARCE1):c.1103A>G (p.Glu368Gly)
|
rs1555605086
|
|
NM_003079.5(SMARCE1):c.1104G>C (p.Glu368Asp)
|
rs2037062159
|
|
NM_003079.5(SMARCE1):c.1106G>C (p.Ser369Thr)
|
|
|
NM_003079.5(SMARCE1):c.1108G>A (p.Gly370Arg)
|
rs2143980642
|
|
NM_003079.5(SMARCE1):c.1109G>A (p.Gly370Glu)
|
rs2037062100
|
|
NM_003079.5(SMARCE1):c.1109G>T (p.Gly370Val)
|
rs2037062100
|
|
NM_003079.5(SMARCE1):c.110A>G (p.Asn37Ser)
|
rs1597749763
|
|
NM_003079.5(SMARCE1):c.1115A>C (p.Glu372Ala)
|
rs2037061989
|
|
NM_003079.5(SMARCE1):c.1115A>G (p.Glu372Gly)
|
|
|
NM_003079.5(SMARCE1):c.1117G>A (p.Gly373Arg)
|
rs2037061907
|
|
NM_003079.5(SMARCE1):c.1120G>C (p.Val374Leu)
|
rs1165295357
|
|
NM_003079.5(SMARCE1):c.1120del (p.Val374fs)
|
|
|
NM_003079.5(SMARCE1):c.1121T>C (p.Val374Ala)
|
rs1597741256
|
|
NM_003079.5(SMARCE1):c.1126A>C (p.Ser376Arg)
|
rs2037061648
|
|
NM_003079.5(SMARCE1):c.1126A>G (p.Ser376Gly)
|
rs2037061648
|
|
NM_003079.5(SMARCE1):c.1130T>C (p.Met377Thr)
|
|
|
NM_003079.5(SMARCE1):c.113A>G (p.Asn38Ser)
|
rs915901827
|
|
NM_003079.5(SMARCE1):c.1142G>A (p.Gly381Glu)
|
|
|
NM_003079.5(SMARCE1):c.1144A>G (p.Thr382Ala)
|
rs1597741239
|
|
NM_003079.5(SMARCE1):c.1145C>G (p.Thr382Ser)
|
|
|
NM_003079.5(SMARCE1):c.1147A>C (p.Ser383Arg)
|
|
|
NM_003079.5(SMARCE1):c.1147A>G (p.Ser383Gly)
|
rs1322064785
|
|
NM_003079.5(SMARCE1):c.1148G>C (p.Ser383Thr)
|
|
|
NM_003079.5(SMARCE1):c.1155T>G (p.Ser385Arg)
|
rs1597741226
|
|
NM_003079.5(SMARCE1):c.1156A>G (p.Asn386Asp)
|
rs1555605077
|
|
NM_003079.5(SMARCE1):c.1163G>A (p.Gly388Asp)
|
|
|
NM_003079.5(SMARCE1):c.1166C>G (p.Ser389Trp)
|
rs376181802
|
|
NM_003079.5(SMARCE1):c.116A>G (p.Tyr39Cys)
|
|
|
NM_003079.5(SMARCE1):c.1170G>T (p.Glu390Asp)
|
rs2037060934
|
|
NM_003079.5(SMARCE1):c.1171A>G (p.Ser391Gly)
|
rs2143980380
|
|
NM_003079.5(SMARCE1):c.1172G>A (p.Ser391Asn)
|
rs1298633600
|
|
NM_003079.5(SMARCE1):c.1172G>C (p.Ser391Thr)
|
rs1298633600
|
|
NM_003079.5(SMARCE1):c.1174A>G (p.Asn392Asp)
|
rs2037060809
|
|
NM_003079.5(SMARCE1):c.1175A>G (p.Asn392Ser)
|
|
|
NM_003079.5(SMARCE1):c.1177A>G (p.Ser393Gly)
|
rs775907713
|
|
NM_003079.5(SMARCE1):c.1180G>A (p.Ala394Thr)
|
rs1597741198
|
|
NM_003079.5(SMARCE1):c.1186G>C (p.Val396Leu)
|
rs767236696
|
|
NM_003079.5(SMARCE1):c.1195C>G (p.Pro399Ala)
|
rs2037060453
|
|
NM_003079.5(SMARCE1):c.1196C>T (p.Pro399Leu)
|
rs1397941319
|
|
NM_003079.5(SMARCE1):c.1198C>G (p.Pro400Ala)
|
rs2143980289
|
|
NM_003079.5(SMARCE1):c.1198C>T (p.Pro400Ser)
|
rs2143980289
|
|
NM_003079.5(SMARCE1):c.119G>A (p.Arg40Lys)
|
|
|
NM_003079.5(SMARCE1):c.1202C>T (p.Thr401Ile)
|
rs2037060386
|
|
NM_003079.5(SMARCE1):c.120G>T (p.Arg40Ser)
|
|
|
NM_003079.5(SMARCE1):c.1211T>A (p.Ile404Lys)
|
|
|
NM_003079.5(SMARCE1):c.1212A>G (p.Ile404Met)
|
rs1060501396
|
|
NM_003079.5(SMARCE1):c.1213C>T (p.Pro405Ser)
|
|
|
NM_003079.5(SMARCE1):c.1217A>C (p.Glu406Ala)
|
rs2037060002
|
|
NM_003079.5(SMARCE1):c.1219G>A (p.Asp407Asn)
|
rs139178605
|
|
NM_003079.5(SMARCE1):c.1219G>T (p.Asp407Tyr)
|
|
|
NM_003079.5(SMARCE1):c.121C>T (p.Leu41=)
|
|
|
NM_003079.5(SMARCE1):c.1220A>T (p.Asp407Val)
|
|
|
NM_003079.5(SMARCE1):c.1222G>A (p.Glu408Lys)
|
rs1487515718
|
|
NM_003079.5(SMARCE1):c.1226A>T (p.Lys409Ile)
|
|
|
NM_003079.5(SMARCE1):c.1231G>A (p.Glu411Lys)
|
rs62622817
|
|
NM_003079.5(SMARCE1):c.1233A>G (p.Glu411=)
|
rs1555605056
|
|
NM_003079.5(SMARCE1):c.1234_1235insTTT (p.*412Pheext*1)
|
rs2143980165
|
|
NM_003079.5(SMARCE1):c.131A>C (p.Asn44Thr)
|
rs761846539
|
|
NM_003079.5(SMARCE1):c.132C>G (p.Asn44Lys)
|
rs570462841
|
|
NM_003079.5(SMARCE1):c.133C>G (p.Pro45Ala)
|
|
|
NM_003079.5(SMARCE1):c.133C>T (p.Pro45Ser)
|
rs1597749741
|
|
NM_003079.5(SMARCE1):c.134C>T (p.Pro45Leu)
|
rs1249552995
|
|
NM_003079.5(SMARCE1):c.137G>A (p.Gly46Asp)
|
rs2037209184
|
|
NM_003079.5(SMARCE1):c.148C>G (p.Arg50Gly)
|
rs2037209097
|
|
NM_003079.5(SMARCE1):c.149G>A (p.Arg50Gln)
|
rs1060501394
|
|
NM_003079.5(SMARCE1):c.151G>T (p.Val51Phe)
|
|
|
NM_003079.5(SMARCE1):c.152T>G (p.Val51Gly)
|
rs1597749716
|
|
NM_003079.5(SMARCE1):c.155C>T (p.Thr52Met)
|
rs909376128
|
|
NM_003079.5(SMARCE1):c.156+4G>A
|
|
|
NM_003079.5(SMARCE1):c.156+6A>G
|
|
|
NM_003079.5(SMARCE1):c.166G>A (p.Gly56Ser)
|
|
|
NM_003079.5(SMARCE1):c.169A>T (p.Ile57Phe)
|
rs2143999604
|
|
NM_003079.5(SMARCE1):c.175A>T (p.Ile59Phe)
|
rs2143999589
|
|
NM_003079.5(SMARCE1):c.1dup (p.Met1fs)
|
rs2144015619
|
|
NM_003079.5(SMARCE1):c.22G>A (p.Ala8Thr)
|
|
|
NM_003079.5(SMARCE1):c.237+3A>G
|
rs2143999496
|
|
NM_003079.5(SMARCE1):c.237+4G>A
|
rs2037158242
|
|
NM_003079.5(SMARCE1):c.237G>A (p.Lys79=)
|
|
|
NM_003079.5(SMARCE1):c.248A>G (p.Gln83Arg)
|
rs2037147392
|
|
NM_003079.5(SMARCE1):c.263A>G (p.Asn88Ser)
|
|
|
NM_003079.5(SMARCE1):c.268G>A (p.Asp90Asn)
|
|
|
NM_003079.5(SMARCE1):c.279G>T (p.Leu93Phe)
|
rs2037147129
|
|
NM_003079.5(SMARCE1):c.28C>T (p.Pro10Ser)
|
rs1413469817
|
|
NM_003079.5(SMARCE1):c.298A>T (p.Ile100Phe)
|
|
|
NM_003079.5(SMARCE1):c.302G>A (p.Gly101Asp)
|
rs2037147008
|
|
NM_003079.5(SMARCE1):c.314G>A (p.Arg105Gln)
|
rs2037146907
|
|
NM_003079.5(SMARCE1):c.326A>G (p.Asp109Gly)
|
rs2143997323
|
|
NM_003079.5(SMARCE1):c.328G>A (p.Glu110Lys)
|
rs2143997316
|
|
NM_003079.5(SMARCE1):c.330A>C (p.Glu110Asp)
|
rs372964610
|
|
NM_003079.5(SMARCE1):c.331G>C (p.Glu111Gln)
|
rs878854601
|
|
NM_003079.5(SMARCE1):c.332A>G (p.Glu111Gly)
|
rs2037146794
|
|
NM_003079.5(SMARCE1):c.337C>A (p.Gln113Lys)
|
rs2143997301
|
|
NM_003079.5(SMARCE1):c.346T>G (p.Leu116Val)
|
|
|
NM_003079.5(SMARCE1):c.34A>C (p.Thr12Pro)
|
rs2037247946
|
|
NM_003079.5(SMARCE1):c.352G>A (p.Glu118Lys)
|
rs1131691457
|
|
NM_003079.5(SMARCE1):c.365A>G (p.Glu122Gly)
|
|
|
NM_003079.5(SMARCE1):c.369+4G>A
|
rs1597746280
|
|
NM_003079.5(SMARCE1):c.369+4G>C
|
rs1597746280
|
|
NM_003079.5(SMARCE1):c.369+5G>A
|
rs2037146547
|
|
NM_003079.5(SMARCE1):c.369+6G>A
|
rs200391280
|
|
NM_003079.5(SMARCE1):c.370-6T>C
|
rs1060501397
|
|
NM_003079.5(SMARCE1):c.370A>G (p.Ile124Val)
|
|
|
NM_003079.5(SMARCE1):c.373G>C (p.Glu125Gln)
|
rs762580699
|
|
NM_003079.5(SMARCE1):c.37C>T (p.Pro13Ser)
|
rs1398882535
|
|
NM_003079.5(SMARCE1):c.380A>G (p.Asn127Ser)
|
rs2143996566
|
|
NM_003079.5(SMARCE1):c.388A>G (p.Met130Val)
|
rs2143996528
|
|
NM_003079.5(SMARCE1):c.38C>T (p.Pro13Leu)
|
|
|
NM_003079.5(SMARCE1):c.394G>A (p.Ala132Thr)
|
|
|
NM_003079.5(SMARCE1):c.395C>T (p.Ala132Val)
|
|
|
NM_003079.5(SMARCE1):c.398A>G (p.Tyr133Cys)
|
rs2143996507
|
|
NM_003079.5(SMARCE1):c.409C>T (p.Pro137Ser)
|
rs2143996465
|
|
NM_003079.5(SMARCE1):c.40G>A (p.Ala14Thr)
|
|
|
NM_003079.5(SMARCE1):c.413C>T (p.Ala138Val)
|
|
|
NM_003079.5(SMARCE1):c.421G>A (p.Ala141Thr)
|
rs2037143160
|
|
NM_003079.5(SMARCE1):c.425A>T (p.Tyr142Phe)
|
rs1567847087
|
|
NM_003079.5(SMARCE1):c.427A>G (p.Ile143Val)
|
rs772432672
|
|
NM_003079.5(SMARCE1):c.442C>T (p.Arg148Cys)
|
rs147065057
|
|
NM_003079.5(SMARCE1):c.446C>T (p.Ala149Val)
|
rs2037142942
|
|
NM_003079.5(SMARCE1):c.462G>C (p.Glu154Asp)
|
rs2143996251
|
|
NM_003079.5(SMARCE1):c.467A>G (p.Glu156Gly)
|
|
|
NM_003079.5(SMARCE1):c.473G>T (p.Arg158Leu)
|
|
|
NM_003079.5(SMARCE1):c.482A>G (p.Gln161Arg)
|
rs1555605748
|
|
NM_003079.5(SMARCE1):c.484T>A (p.Ser162Thr)
|
rs878854602
|
|
NM_003079.5(SMARCE1):c.485C>T (p.Ser162Phe)
|
|
|
NM_003079.5(SMARCE1):c.489C>T (p.Arg163=)
|
rs2143996156
|
|
NM_003079.5(SMARCE1):c.499G>A (p.Gly167Arg)
|
|
|
NM_003079.5(SMARCE1):c.503A>T (p.Glu168Val)
|
|
|
NM_003079.5(SMARCE1):c.509A>G (p.Tyr170Cys)
|
rs1555605744
|
|
NM_003079.5(SMARCE1):c.511A>G (p.Met171Val)
|
rs2037142335
|
|
NM_003079.5(SMARCE1):c.52-3C>T
|
|
|
NM_003079.5(SMARCE1):c.52-5A>G
|
rs2037210067
|
|
NM_003079.5(SMARCE1):c.521A>G (p.Gln174Arg)
|
rs2143996031
|
|
NM_003079.5(SMARCE1):c.522G>C (p.Gln174His)
|
|
|
NM_003079.5(SMARCE1):c.523C>G (p.Pro175Ala)
|
rs2143996013
|
|
NM_003079.5(SMARCE1):c.527C>T (p.Ala176Val)
|
rs2143995982
|
|
NM_003079.5(SMARCE1):c.533A>T (p.Asp178Val)
|
rs2143995960
|
|
NM_003079.5(SMARCE1):c.536C>T (p.Pro179Leu)
|
rs1160889864
|
|
NM_003079.5(SMARCE1):c.539A>T (p.Asp180Val)
|
rs2037142009
|
|
NM_003079.5(SMARCE1):c.541+17G>A
|
|
|
NM_003079.5(SMARCE1):c.541+3A>G
|
rs1555605737
|
|
NM_003079.5(SMARCE1):c.541+5A>G
|
|
|
NM_003079.5(SMARCE1):c.542-17C>G
|
|
|
NM_003079.5(SMARCE1):c.542-8C>G
|
rs2143988643
|
|
NM_003079.5(SMARCE1):c.547G>A (p.Asp183Asn)
|
rs2037103551
|
|
NM_003079.5(SMARCE1):c.552T>A (p.Asp184Glu)
|
rs1555605438
|
|
NM_003079.5(SMARCE1):c.562A>T (p.Met188Leu)
|
|
|
NM_003079.5(SMARCE1):c.572C>T (p.Thr191Ile)
|
|
|
NM_003079.5(SMARCE1):c.574G>A (p.Ala192Thr)
|
rs2143988542
|
|
NM_003079.5(SMARCE1):c.578C>T (p.Thr193Ile)
|
rs1319163552
|
|
NM_003079.5(SMARCE1):c.580G>T (p.Ala194Ser)
|
|
|
NM_003079.5(SMARCE1):c.584G>A (p.Arg195His)
|
rs1303849808
|
|
NM_003079.5(SMARCE1):c.58C>T (p.Pro20Ser)
|
|
|
NM_003079.5(SMARCE1):c.598C>T (p.His200Tyr)
|
rs2143988460
|
|
NM_003079.5(SMARCE1):c.601C>T (p.Arg201Cys)
|
rs1567845807
|
|
NM_003079.5(SMARCE1):c.602G>A (p.Arg201His)
|
rs761299232
|
|
NM_003079.5(SMARCE1):c.605T>G (p.Leu202Arg)
|
|
|
NM_003079.5(SMARCE1):c.607A>C (p.Ile203Leu)
|
|
|
NM_003079.5(SMARCE1):c.611G>A (p.Ser204Asn)
|
|
|
NM_003079.5(SMARCE1):c.618T>G (p.Ile206Met)
|
|
|
NM_003079.5(SMARCE1):c.61A>G (p.Ser21Gly)
|
|
|
NM_003079.5(SMARCE1):c.622A>C (p.Ser208Arg)
|
rs2143988407
|
|
NM_003079.5(SMARCE1):c.627G>C (p.Glu209Asp)
|
|
|
NM_003079.5(SMARCE1):c.631G>T (p.Val211Leu)
|
rs2037102677
|
|
NM_003079.5(SMARCE1):c.637C>T (p.Pro213Ser)
|
|
|
NM_003079.5(SMARCE1):c.640G>A (p.Asp214Asn)
|
rs2143988369
|
|
NM_003079.5(SMARCE1):c.646C>T (p.Arg216Trp)
|
rs2143988352
|
|
NM_003079.5(SMARCE1):c.665C>G (p.Ala222Gly)
|
|
|
NM_003079.5(SMARCE1):c.683A>C (p.Lys228Thr)
|
|
|
NM_003079.5(SMARCE1):c.683A>G (p.Lys228Arg)
|
rs2037102487
|
|
NM_003079.5(SMARCE1):c.685C>T (p.Arg229Trp)
|
|
|
NM_003079.5(SMARCE1):c.686G>A (p.Arg229Gln)
|
rs768981981
|
|
NM_003079.5(SMARCE1):c.705G>T (p.Met235Ile)
|
|
|
NM_003079.5(SMARCE1):c.706G>A (p.Val236Ile)
|
rs745924628
|
|
NM_003079.5(SMARCE1):c.714+6G>A
|
|
|
NM_003079.5(SMARCE1):c.715-3C>G
|
|
|
NM_003079.5(SMARCE1):c.734TTC[1] (p.Leu246del)
|
|
|
NM_003079.5(SMARCE1):c.741A>G (p.Gln247=)
|
rs1356231337
|
|
NM_003079.5(SMARCE1):c.742A>T (p.Ile248Leu)
|
rs2037096994
|
|
NM_003079.5(SMARCE1):c.743T>C (p.Ile248Thr)
|
|
|
NM_003079.5(SMARCE1):c.750A>C (p.Glu250Asp)
|
rs1555605350
|
|
NM_003079.5(SMARCE1):c.752G>A (p.Arg251Gln)
|
|
|
NM_003079.5(SMARCE1):c.760_762del (p.Glu254del)
|
|
|
NM_003079.5(SMARCE1):c.761AGA[2] (p.Lys256del)
|
rs769002311
|
|
NM_003079.5(SMARCE1):c.764A>G (p.Lys255Arg)
|
rs2037096715
|
|
NM_003079.5(SMARCE1):c.767A>C (p.Lys256Thr)
|
rs542193901
|
|
NM_003079.5(SMARCE1):c.771G>C (p.Arg257Ser)
|
|
|
NM_003079.5(SMARCE1):c.783A>T (p.Glu261Asp)
|
rs2143986944
|
|
NM_003079.5(SMARCE1):c.788C>G (p.Thr263Arg)
|
rs2037096454
|
|
NM_003079.5(SMARCE1):c.790G>A (p.Asp264Asn)
|
rs1555605342
|
|
NM_003079.5(SMARCE1):c.791A>G (p.Asp264Gly)
|
|
|
NM_003079.5(SMARCE1):c.794C>T (p.Ser265Leu)
|
|
|
NM_003079.5(SMARCE1):c.796T>C (p.Phe266Leu)
|
rs2143986878
|
|
NM_003079.5(SMARCE1):c.8-3C>G
|
|
|
NM_003079.5(SMARCE1):c.802A>C (p.Asn268His)
|
rs963534528
|
|
NM_003079.5(SMARCE1):c.802A>G (p.Asn268Asp)
|
|
|
NM_003079.5(SMARCE1):c.803A>G (p.Asn268Ser)
|
rs2037096315
|
|
NM_003079.5(SMARCE1):c.811A>G (p.Lys271Glu)
|
|
|
NM_003079.5(SMARCE1):c.815G>A (p.Arg272Lys)
|
|
|
NM_003079.5(SMARCE1):c.816G>T (p.Arg272Ser)
|
rs2037096217
|
|
NM_003079.5(SMARCE1):c.821G>A (p.Cys274Tyr)
|
rs1413987767
|
|
NM_003079.5(SMARCE1):c.824G>A (p.Gly275Asp)
|
rs1555605260
|
|
NM_003079.5(SMARCE1):c.827T>C (p.Leu276Pro)
|
|
|
NM_003079.5(SMARCE1):c.82T>C (p.Tyr28His)
|
rs2144009228
|
|
NM_003079.5(SMARCE1):c.832G>A (p.Val278Ile)
|
rs2037087580
|
|
NM_003079.5(SMARCE1):c.833T>C (p.Val278Ala)
|
rs2143985196
|
|
NM_003079.5(SMARCE1):c.844A>G (p.Met282Val)
|
rs1597742553
|
|
NM_003079.5(SMARCE1):c.847G>C (p.Glu283Gln)
|
|
|
NM_003079.5(SMARCE1):c.849G>T (p.Glu283Asp)
|
rs2143985157
|
|
NM_003079.5(SMARCE1):c.849del (p.Ile285fs)
|
rs2037087393
|
|
NM_003079.5(SMARCE1):c.850A>G (p.Lys284Glu)
|
|
|
NM_003079.5(SMARCE1):c.853A>G (p.Ile285Val)
|
rs2143985147
|
|
NM_003079.5(SMARCE1):c.854T>C (p.Ile285Thr)
|
rs1597742548
|
|
NM_003079.5(SMARCE1):c.856G>A (p.Ala286Thr)
|
rs751048883
|
|
NM_003079.5(SMARCE1):c.860C>T (p.Ala287Val)
|
|
|
NM_003079.5(SMARCE1):c.862G>A (p.Glu288Lys)
|
rs2143985106
|
|
NM_003079.5(SMARCE1):c.869C>G (p.Ala290Gly)
|
rs758923998
|
|
NM_003079.5(SMARCE1):c.869C>T (p.Ala290Val)
|
rs758923998
|
|
NM_003079.5(SMARCE1):c.86A>G (p.Asn29Ser)
|
rs760888905
|
|
NM_003079.5(SMARCE1):c.874_877del (p.Ala292fs)
|
|
|
NM_003079.5(SMARCE1):c.875C>T (p.Ala292Val)
|
|
|
NM_003079.5(SMARCE1):c.880G>A (p.Glu294Lys)
|
rs2143985056
|
|
NM_003079.5(SMARCE1):c.885G>T (p.Gln295His)
|
rs2037087059
|
|
NM_003079.5(SMARCE1):c.887C>G (p.Ala296Gly)
|
rs2037087035
|
|
NM_003079.5(SMARCE1):c.887C>T (p.Ala296Val)
|
|
|
NM_003079.5(SMARCE1):c.889C>G (p.Arg297Gly)
|
rs562702157
|
|
NM_003079.5(SMARCE1):c.889C>T (p.Arg297Cys)
|
rs562702157
|
|
NM_003079.5(SMARCE1):c.890G>A (p.Arg297His)
|
rs1172017371
|
|
NM_003079.5(SMARCE1):c.890G>T (p.Arg297Leu)
|
|
|
NM_003079.5(SMARCE1):c.893A>G (p.Lys298Arg)
|
rs956654252
|
|
NM_003079.5(SMARCE1):c.896G>C (p.Arg299Thr)
|
rs1555605248
|
|
NM_003079.5(SMARCE1):c.896G>T (p.Arg299Met)
|
rs1555605248
|
|
NM_003079.5(SMARCE1):c.899A>G (p.Gln300Arg)
|
rs766568737
|
|
NM_003079.5(SMARCE1):c.906A>C (p.Glu302Asp)
|
rs760713355
|
|
NM_003079.5(SMARCE1):c.909G>C (p.Arg303Ser)
|
rs2037086696
|
|
NM_003079.5(SMARCE1):c.913A>G (p.Lys305Glu)
|
rs2143984936
|
|
NM_003079.5(SMARCE1):c.913_915del (p.Lys305del)
|
rs770456331
|
|
NM_003079.5(SMARCE1):c.914A>G (p.Lys305Arg)
|
|
|
NM_003079.5(SMARCE1):c.916G>A (p.Glu306Lys)
|
|
|
NM_003079.5(SMARCE1):c.919G>A (p.Ala307Thr)
|
rs2037086571
|
|
NM_003079.5(SMARCE1):c.920C>T (p.Ala307Val)
|
|
|
NM_003079.5(SMARCE1):c.928C>G (p.Gln310Glu)
|
|
|
NM_003079.5(SMARCE1):c.930_949dup (p.Ser317fs)
|
rs2037085970
|
|
NM_003079.5(SMARCE1):c.934G>A (p.Glu312Lys)
|
|
|
NM_003079.5(SMARCE1):c.935A>G (p.Glu312Gly)
|
rs2037086336
|
|
NM_003079.5(SMARCE1):c.938G>T (p.Arg313Leu)
|
rs201577008
|
|
NM_003079.5(SMARCE1):c.944A>G (p.Gln315Arg)
|
rs1444576393
|
|
NM_003079.5(SMARCE1):c.94A>G (p.Ser32Gly)
|
rs1162139233
|
|
NM_003079.5(SMARCE1):c.955G>T (p.Val319Phe)
|
|
|
NM_003079.5(SMARCE1):c.958C>G (p.Pro320Ala)
|
|
|
NM_003079.5(SMARCE1):c.95G>A (p.Ser32Asn)
|
rs1597749777
|
|
NM_003079.5(SMARCE1):c.962A>T (p.Glu321Val)
|
|
|
NM_003079.5(SMARCE1):c.967G>A (p.Glu323Lys)
|
|
|
NM_003079.5(SMARCE1):c.971A>T (p.Gln324Leu)
|
rs1555605231
|
|
NM_003079.5(SMARCE1):c.986_1000dup (p.Lys333_Asp334insGlyGluGluLysLys)
|
|
|
NM_003079.5(SMARCE1):c.988GAG[1] (p.Glu331del)
|
|
|
NM_003079.5(SMARCE1):c.989_990delinsGC (p.Glu330Gly)
|
|
|
NM_003079.5(SMARCE1):c.990_1004del (p.Glu330_Asp334del)
|
rs2143984558
|
|
NM_003079.5(SMARCE1):c.992A>G (p.Glu331Gly)
|
|
|
NM_003079.5(SMARCE1):c.993GAA[1] (p.Lys333del)
|
|
|
NM_003079.5(SMARCE1):c.995A>C (p.Lys332Thr)
|
rs766656583
|
|
NM_003079.5(SMARCE1):c.995A>G (p.Lys332Arg)
|
|
|
NM_003079.5(SMARCE1):c.998A>G (p.Lys333Arg)
|
rs948161312
|
|
NM_003640.5(ELP1):c.116A>G (p.His39Arg)
|
rs2132052820
|
|
NM_003640.5(ELP1):c.1181T>C (p.Ile394Thr)
|
rs571143526
|
|
NM_003640.5(ELP1):c.1220C>A (p.Thr407Asn)
|
|
|
NM_003640.5(ELP1):c.1352A>G (p.Tyr451Cys)
|
rs1829196320
|
|
NM_003640.5(ELP1):c.1436CTC[1] (p.Pro480del)
|
rs746116617
|
|
NM_003640.5(ELP1):c.1456T>C (p.Tyr486His)
|
|
|
NM_003640.5(ELP1):c.14A>G (p.Lys5Arg)
|
|
|
NM_003640.5(ELP1):c.1587C>A (p.His529Gln)
|
|
|
NM_003640.5(ELP1):c.1613T>C (p.Met538Thr)
|
rs1388151143
|
|
NM_003640.5(ELP1):c.1730A>G (p.Gln577Arg)
|
rs879254309
|
|
NM_003640.5(ELP1):c.1735T>C (p.Phe579Leu)
|
rs199555804
|
|
NM_003640.5(ELP1):c.1940A>T (p.Tyr647Phe)
|
rs1828805989
|
|
NM_003640.5(ELP1):c.2092G>A (p.Val698Ile)
|
rs1828721515
|
|
NM_003640.5(ELP1):c.209G>T (p.Arg70Leu)
|
rs111936933
|
|
NM_003640.5(ELP1):c.2129A>G (p.Gln710Arg)
|
|
|
NM_003640.5(ELP1):c.2374G>A (p.Val792Ile)
|
rs546587836
|
|
NM_003640.5(ELP1):c.2501+4T>G
|
rs1405951778
|
|
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)
|
rs149845612
|
|
NM_003640.5(ELP1):c.2908T>A (p.Leu970Met)
|
rs180931232
|
|
NM_003640.5(ELP1):c.2992C>G (p.Gln998Glu)
|
rs1828328786
|
|
NM_003640.5(ELP1):c.3061G>T (p.Ala1021Ser)
|
rs1296107083
|
|
NM_003640.5(ELP1):c.3433A>G (p.Lys1145Glu)
|
|
|
NM_003640.5(ELP1):c.3461A>G (p.Asp1154Gly)
|
rs202165319
|
|
NM_003640.5(ELP1):c.3572+5G>A
|
rs773132143
|
|
NM_003640.5(ELP1):c.3769A>G (p.Lys1257Glu)
|
|
|
NM_003640.5(ELP1):c.3840G>C (p.Gln1280His)
|
|
|
NM_003640.5(ELP1):c.3977G>A (p.Trp1326Ter)
|
rs1554735724
|
|
NM_003640.5(ELP1):c.602G>A (p.Arg201Gln)
|
rs367552387
|
|
NM_003640.5(ELP1):c.85G>A (p.Glu29Lys)
|
rs977172542
|
|
NM_003640.5(ELP1):c.983A>C (p.Tyr328Ser)
|
rs750663365
|
|
NM_003977.4(AIP):c.-12C>G
|
rs551077555
|
|
NM_003977.4(AIP):c.-2G>C
|
rs377710724
|
|
NM_003977.4(AIP):c.-85C>T
|
rs1565180279
|
|
NM_003977.4(AIP):c.102C>G (p.Ala34=)
|
rs886048584
|
|
NM_003977.4(AIP):c.136G>A (p.Glu46Lys)
|
rs772580337
|
|
NM_003977.4(AIP):c.151G>A (p.Asp51Asn)
|
rs1591042638
|
|
NM_003977.4(AIP):c.164C>T (p.Ala55Val)
|
rs1865805899
|
|
NM_003977.4(AIP):c.16G>A (p.Ala6Thr)
|
|
|
NM_003977.4(AIP):c.249G>A (p.Gly83=)
|
rs104895072
|
|
NM_003977.4(AIP):c.261G>C (p.Gln87His)
|
rs767982777
|
|
NM_003977.4(AIP):c.279G>A (p.Lys93=)
|
|
|
NM_003977.4(AIP):c.379A>G (p.Met127Val)
|
rs1591044815
|
|
NM_003977.4(AIP):c.474G>T (p.Glu158Asp)
|
rs1245383191
|
|
NM_003977.4(AIP):c.485C>T (p.Thr162Met)
|
rs764344774
|
|
NM_003977.4(AIP):c.523A>C (p.Lys175Gln)
|
|
|
NM_003977.4(AIP):c.619G>C (p.Ala207Pro)
|
|
|
NM_003977.4(AIP):c.649C>G (p.Gln217Glu)
|
|
|
NM_003977.4(AIP):c.660C>T (p.Ser220=)
|
rs776495655
|
|
NM_003977.4(AIP):c.662C>T (p.Pro221Leu)
|
rs1426023503
|
|
NM_003977.4(AIP):c.787+10G>A
|
rs776322323
|
|
NM_003977.4(AIP):c.807C>G (p.Phe269Leu)
|
|
|
NM_003977.4(AIP):c.879G>T (p.Glu293Asp)
|
|
|
NM_003977.4(AIP):c.887C>A (p.Pro296Gln)
|
|
|
NM_003977.4(AIP):c.949G>T (p.Asp317Tyr)
|
rs145025838
|
|
NM_003977.4(AIP):c.950A>G (p.Asp317Gly)
|
|
|
NM_004168.3(SDHA):c.-115-?_*280+?dup2390
|
|
|
NM_004168.3(SDHA):c.-115-?_1432+?dup1547
|
|
|
NM_004168.4(SDHA):c.*13T>C
|
rs1042476
|
|
NM_004168.4(SDHA):c.-7A>C
|
rs751633537
|
|
NM_004168.4(SDHA):c.1000G>T (p.Ala334Ser)
|
|
|
NM_004168.4(SDHA):c.1004A>C (p.Lys335Thr)
|
rs1560994846
|
|
NM_004168.4(SDHA):c.1005G>C (p.Lys335Asn)
|
rs1735559685
|
|
NM_004168.4(SDHA):c.1006G>T (p.Asp336Tyr)
|
rs1553999038
|
|
NM_004168.4(SDHA):c.1007A>C (p.Asp336Ala)
|
rs1579402533
|
|
NM_004168.4(SDHA):c.1012G>A (p.Ala338Thr)
|
rs2126577878
|
|
NM_004168.4(SDHA):c.1012G>C (p.Ala338Pro)
|
|
|
NM_004168.4(SDHA):c.1013C>G (p.Ala338Gly)
|
|
|
NM_004168.4(SDHA):c.1013C>T (p.Ala338Val)
|
rs1560994866
|
|
NM_004168.4(SDHA):c.1016C>G (p.Ser339Cys)
|
rs1553999043
|
|
NM_004168.4(SDHA):c.1019G>T (p.Arg340Ile)
|
rs1579402602
|
|
NM_004168.4(SDHA):c.1022A>C (p.Asp341Ala)
|
rs1579402616
|
|
NM_004168.4(SDHA):c.1022A>G (p.Asp341Gly)
|
|
|
NM_004168.4(SDHA):c.1024G>A (p.Val342Met)
|
|
|
NM_004168.4(SDHA):c.1024G>C (p.Val342Leu)
|
rs1735562520
|
|
NM_004168.4(SDHA):c.1024GTG[1] (p.Val343del)
|
rs2126578027
|
|
NM_004168.4(SDHA):c.1027G>C (p.Val343Leu)
|
rs2126578052
|
|
NM_004168.4(SDHA):c.1027G>T (p.Val343Leu)
|
|
|
NM_004168.4(SDHA):c.1028T>A (p.Val343Glu)
|
rs1218116319
|
|
NM_004168.4(SDHA):c.1028T>C (p.Val343Ala)
|
|
|
NM_004168.4(SDHA):c.1030T>G (p.Ser344Ala)
|
rs1735563330
|
|
NM_004168.4(SDHA):c.1031C>A (p.Ser344Tyr)
|
rs1735563548
|
|
NM_004168.4(SDHA):c.1033C>G (p.Arg345Gly)
|
|
|
NM_004168.4(SDHA):c.1034G>A (p.Arg345Gln)
|
rs1483236652
|
|
NM_004168.4(SDHA):c.1037C>A (p.Ser346Tyr)
|
|
|
NM_004168.4(SDHA):c.1037C>G (p.Ser346Cys)
|
rs1041948
|
|
NM_004168.4(SDHA):c.1037_1038delinsTG (p.Ser346Leu)
|
rs1735564312
|
|
NM_004168.4(SDHA):c.1037_1038inv (p.Ser346Trp)
|
|
|
NM_004168.4(SDHA):c.1039A>C (p.Met347Leu)
|
|
|
NM_004168.4(SDHA):c.1039A>G (p.Met347Val)
|
rs1245387180
|
|
NM_004168.4(SDHA):c.1040T>C (p.Met347Thr)
|
rs1553999054
|
|
NM_004168.4(SDHA):c.1042A>G (p.Thr348Ala)
|
rs371484111
|
|
NM_004168.4(SDHA):c.1042A>T (p.Thr348Ser)
|
rs371484111
|
|
NM_004168.4(SDHA):c.1043C>G (p.Thr348Ser)
|
|
|
NM_004168.4(SDHA):c.1055G>T (p.Arg352Leu)
|
rs199844384
|
|
NM_004168.4(SDHA):c.1057G>A (p.Glu353Lys)
|
rs1328911130
|
|
NM_004168.4(SDHA):c.1058A>C (p.Glu353Ala)
|
rs2126578405
|
|
NM_004168.4(SDHA):c.1060G>A (p.Gly354Arg)
|
rs746611221
|
|
NM_004168.4(SDHA):c.1060G>C (p.Gly354Arg)
|
rs746611221
|
|
NM_004168.4(SDHA):c.1061G>A (p.Gly354Glu)
|
rs2126578424
|
|
NM_004168.4(SDHA):c.1062A>T (p.Gly354=)
|
|
|
NM_004168.4(SDHA):c.1064+3G>A
|
rs1553999078
|
|
NM_004168.4(SDHA):c.1064+3G>C
|
|
|
NM_004168.4(SDHA):c.1064+4C>A
|
rs768276870
|
|
NM_004168.4(SDHA):c.1064+4C>G
|
|
|
NM_004168.4(SDHA):c.1064+5G>C
|
rs200021115
|
|
NM_004168.4(SDHA):c.1064+6T>C
|
|
|
NM_004168.4(SDHA):c.1064G>C (p.Arg355Thr)
|
|
|
NM_004168.4(SDHA):c.1064G>T (p.Arg355Ile)
|
rs1735568346
|
|
NM_004168.4(SDHA):c.1065-11T>C
|
|
|
NM_004168.4(SDHA):c.1065-13T>C
|
|
|
NM_004168.4(SDHA):c.1065-19T>A
|
|
|
NM_004168.4(SDHA):c.1065-8C>G
|
|
|
NM_004168.4(SDHA):c.1065A>G (p.Arg355=)
|
rs2126584114
|
|
NM_004168.4(SDHA):c.1069T>C (p.Cys357Arg)
|
rs1735685410
|
|
NM_004168.4(SDHA):c.106A>G (p.Thr36Ala)
|
rs750500173
|
|
NM_004168.4(SDHA):c.106A>T (p.Thr36Ser)
|
rs750500173
|
|
NM_004168.4(SDHA):c.1070G>A (p.Cys357Tyr)
|
rs1560996433
|
|
NM_004168.4(SDHA):c.1073G>A (p.Gly358Asp)
|
|
|
NM_004168.4(SDHA):c.1078G>C (p.Glu360Gln)
|
|
|
NM_004168.4(SDHA):c.1079A>G (p.Glu360Gly)
|
|
|
NM_004168.4(SDHA):c.1080G>T (p.Glu360Asp)
|
|
|
NM_004168.4(SDHA):c.1083A>C (p.Lys361Asn)
|
|
|
NM_004168.4(SDHA):c.1083_1084insTCT (p.Lys361_Asp362insSer)
|
rs1735687291
|
|
NM_004168.4(SDHA):c.1084G>T (p.Asp362Tyr)
|
rs2126584224
|
|
NM_004168.4(SDHA):c.1087C>G (p.His363Asp)
|
rs1553999417
|
|
NM_004168.4(SDHA):c.1087C>T (p.His363Tyr)
|
rs1553999417
|
|
NM_004168.4(SDHA):c.1088A>G (p.His363Arg)
|
|
|
NM_004168.4(SDHA):c.1089C>A (p.His363Gln)
|
rs368488126
|
|
NM_004168.4(SDHA):c.1090G>C (p.Val364Leu)
|
rs372738835
|
|
NM_004168.4(SDHA):c.1091T>C (p.Val364Ala)
|
|
|
NM_004168.4(SDHA):c.10G>A (p.Val4Ile)
|
rs778069799
|
|
NM_004168.4(SDHA):c.1101G>C (p.Gln367His)
|
|
|
NM_004168.4(SDHA):c.1103T>C (p.Leu368Pro)
|
rs2126584397
|
|
NM_004168.4(SDHA):c.1103_1105del (p.Leu368del)
|
rs1735689664
|
|
NM_004168.4(SDHA):c.1105C>G (p.His369Asp)
|
|
|
NM_004168.4(SDHA):c.1105C>T (p.His369Tyr)
|
rs2126584410
|
|
NM_004168.4(SDHA):c.1106A>T (p.His369Leu)
|
|
|
NM_004168.4(SDHA):c.1107C>A (p.His369Gln)
|
rs1268877544
|
|
NM_004168.4(SDHA):c.1108C>A (p.His370Asn)
|
rs1060503704
|
|
NM_004168.4(SDHA):c.1108C>T (p.His370Tyr)
|
rs1060503704
|
|
NM_004168.4(SDHA):c.1111C>G (p.Leu371Val)
|
rs1735690368
|
|
NM_004168.4(SDHA):c.1114C>T (p.Pro372Ser)
|
|
|
NM_004168.4(SDHA):c.1115C>T (p.Pro372Leu)
|
rs141493530
|
|
NM_004168.4(SDHA):c.1120G>C (p.Glu374Gln)
|
|
|
NM_004168.4(SDHA):c.1125G>T (p.Gln375His)
|
|
|
NM_004168.4(SDHA):c.1129G>C (p.Ala377Pro)
|
rs1735692451
|
|
NM_004168.4(SDHA):c.112G>A (p.Asp38Asn)
|
rs1553997174
|
|
NM_004168.4(SDHA):c.112G>C (p.Asp38His)
|
rs1553997174
|
|
NM_004168.4(SDHA):c.1130C>A (p.Ala377Asp)
|
rs1553999443
|
|
NM_004168.4(SDHA):c.1130C>T (p.Ala377Val)
|
rs1553999443
|
|
NM_004168.4(SDHA):c.1136G>T (p.Arg379Leu)
|
rs770719847
|
|
NM_004168.4(SDHA):c.1138C>A (p.Leu380Met)
|
rs1735694280
|
|
NM_004168.4(SDHA):c.1139T>G (p.Leu380Arg)
|
|
|
NM_004168.4(SDHA):c.1141C>G (p.Pro381Ala)
|
rs1735694889
|
|
NM_004168.4(SDHA):c.1144_1149dup (p.Gly382_Ile383dup)
|
rs2126584776
|
|
NM_004168.4(SDHA):c.1145G>A (p.Gly382Asp)
|
rs373067620
|
|
NM_004168.4(SDHA):c.1147A>G (p.Ile383Val)
|
rs2126584806
|
|
NM_004168.4(SDHA):c.114T>G (p.Asp38Glu)
|
|
|
NM_004168.4(SDHA):c.1156A>G (p.Thr386Ala)
|
rs1553999461
|
|
NM_004168.4(SDHA):c.1159G>A (p.Ala387Thr)
|
rs2126584893
|
|
NM_004168.4(SDHA):c.115G>A (p.Gly39Arg)
|
|
|
NM_004168.4(SDHA):c.1160C>T (p.Ala387Val)
|
|
|
NM_004168.4(SDHA):c.1162A>T (p.Met388Leu)
|
rs1579406553
|
|
NM_004168.4(SDHA):c.1163T>C (p.Met388Thr)
|
rs1419241279
|
|
NM_004168.4(SDHA):c.116G>T (p.Gly39Val)
|
|
|
NM_004168.4(SDHA):c.1170C>A (p.Phe390Leu)
|
rs35277230
|
|
NM_004168.4(SDHA):c.1171G>C (p.Ala391Pro)
|
rs376597185
|
|
NM_004168.4(SDHA):c.1171G>T (p.Ala391Ser)
|
rs376597185
|
|
NM_004168.4(SDHA):c.1172C>G (p.Ala391Gly)
|
|
|
NM_004168.4(SDHA):c.1174G>A (p.Gly392Ser)
|
|
|
NM_004168.4(SDHA):c.1175G>A (p.Gly392Asp)
|
|
|
NM_004168.4(SDHA):c.1177G>A (p.Val393Met)
|
rs372989971
|
|
NM_004168.4(SDHA):c.1177G>C (p.Val393Leu)
|
rs372989971
|
|
NM_004168.4(SDHA):c.1182C>A (p.Asp394Glu)
|
|
|
NM_004168.4(SDHA):c.1183G>A (p.Val395Ile)
|
rs748683825
|
|
NM_004168.4(SDHA):c.1190A>G (p.Lys397Arg)
|
rs745798689
|
|
NM_004168.4(SDHA):c.1190A>T (p.Lys397Met)
|
|
|
NM_004168.4(SDHA):c.1191G>C (p.Lys397Asn)
|
rs1035794713
|
|
NM_004168.4(SDHA):c.1192_1193delinsAT (p.Glu398Met)
|
|
|
NM_004168.4(SDHA):c.1194G>T (p.Glu398Asp)
|
|
|
NM_004168.4(SDHA):c.1195C>A (p.Pro399Thr)
|
|
|
NM_004168.4(SDHA):c.1195C>T (p.Pro399Ser)
|
rs2126585242
|
|
NM_004168.4(SDHA):c.1199T>A (p.Ile400Asn)
|
rs876660886
|
|
NM_004168.4(SDHA):c.119A>G (p.Asn40Ser)
|
rs1734833856
|
|
NM_004168.4(SDHA):c.11T>A (p.Val4Asp)
|
|
|
NM_004168.4(SDHA):c.11T>G (p.Val4Gly)
|
rs1579369675
|
|
NM_004168.4(SDHA):c.1201C>T (p.Pro401Ser)
|
rs1560996818
|
|
NM_004168.4(SDHA):c.1204G>A (p.Val402Ile)
|
|
|
NM_004168.4(SDHA):c.1204G>C (p.Val402Leu)
|
rs2126585344
|
|
NM_004168.4(SDHA):c.1205T>G (p.Val402Gly)
|
rs2126585353
|
|
NM_004168.4(SDHA):c.1207C>T (p.Leu403Phe)
|
|
|
NM_004168.4(SDHA):c.120C>A (p.Asn40Lys)
|
rs1579379803
|
|
NM_004168.4(SDHA):c.120C>G (p.Asn40Lys)
|
rs1579379803
|
|
NM_004168.4(SDHA):c.1211C>T (p.Pro404Leu)
|
|
|
NM_004168.4(SDHA):c.1214C>A (p.Thr405Asn)
|
rs1553999491
|
|
NM_004168.4(SDHA):c.1214C>T (p.Thr405Ile)
|
|
|
NM_004168.4(SDHA):c.1215C>A (p.Thr405=)
|
rs762888704
|
|
NM_004168.4(SDHA):c.1216G>A (p.Val406Met)
|
rs1258201485
|
|
NM_004168.4(SDHA):c.1220A>T (p.His407Leu)
|
rs374087393
|
|
NM_004168.4(SDHA):c.1225A>G (p.Asn409Asp)
|
|
|
NM_004168.4(SDHA):c.1225A>T (p.Asn409Tyr)
|
|
|
NM_004168.4(SDHA):c.1228A>G (p.Met410Val)
|
rs876658852
|
|
NM_004168.4(SDHA):c.1229T>C (p.Met410Thr)
|
rs1553999505
|
|
NM_004168.4(SDHA):c.1229T>G (p.Met410Arg)
|
|
|
NM_004168.4(SDHA):c.1230G>C (p.Met410Ile)
|
rs1735707028
|
|
NM_004168.4(SDHA):c.1231G>A (p.Gly411Ser)
|
rs2126585602
|
|
NM_004168.4(SDHA):c.1234G>T (p.Gly412Cys)
|
rs768055345
|
|
NM_004168.4(SDHA):c.1237A>C (p.Ile413Leu)
|
|
|
NM_004168.4(SDHA):c.1240C>G (p.Pro414Ala)
|
rs1735708028
|
|
NM_004168.4(SDHA):c.1240C>T (p.Pro414Ser)
|
rs1735708028
|
|
NM_004168.4(SDHA):c.1241CCA[1] (p.Thr415del)
|
rs2126585682
|
|
NM_004168.4(SDHA):c.1243A>G (p.Thr415Ala)
|
rs2126585699
|
|
NM_004168.4(SDHA):c.1247A>G (p.Asn416Ser)
|
|
|
NM_004168.4(SDHA):c.1247A>T (p.Asn416Ile)
|
rs1409603646
|
|
NM_004168.4(SDHA):c.1248C>G (p.Asn416Lys)
|
|
|
NM_004168.4(SDHA):c.1252A>G (p.Lys418Glu)
|
|
|
NM_004168.4(SDHA):c.1255G>A (p.Gly419Arg)
|
rs1735709331
|
|
NM_004168.4(SDHA):c.1259A>G (p.Gln420Arg)
|
rs1735709829
|
|
NM_004168.4(SDHA):c.1260+3G>T
|
rs2126585827
|
|
NM_004168.4(SDHA):c.1260+6G>A
|
rs2126585843
|
|
NM_004168.4(SDHA):c.1260G>A (p.Gln420=)
|
|
|
NM_004168.4(SDHA):c.1261-9T>A
|
rs1553999698
|
|
NM_004168.4(SDHA):c.1270C>T (p.His424Tyr)
|
|
|
NM_004168.4(SDHA):c.1271A>G (p.His424Arg)
|
rs1579409312
|
|
NM_004168.4(SDHA):c.1272C>G (p.His424Gln)
|
rs754805626
|
|
NM_004168.4(SDHA):c.1273G>A (p.Val425Met)
|
rs201822097
|
|
NM_004168.4(SDHA):c.1273G>T (p.Val425Leu)
|
rs201822097
|
|
NM_004168.4(SDHA):c.1274T>G (p.Val425Gly)
|
rs200047573
|
|
NM_004168.4(SDHA):c.1277A>G (p.Asn426Ser)
|
rs1060503725
|
|
NM_004168.4(SDHA):c.1280G>T (p.Gly427Val)
|
rs1735782215
|
|
NM_004168.4(SDHA):c.1282C>G (p.Gln428Glu)
|
|
|
NM_004168.4(SDHA):c.1284G>C (p.Gln428His)
|
rs1735782951
|
|
NM_004168.4(SDHA):c.1285G>A (p.Asp429Asn)
|
rs988419580
|
|
NM_004168.4(SDHA):c.1286A>T (p.Asp429Val)
|
|
|
NM_004168.4(SDHA):c.1287T>G (p.Asp429Glu)
|
|
|
NM_004168.4(SDHA):c.1289A>G (p.Gln430Arg)
|
|
|
NM_004168.4(SDHA):c.128C>T (p.Ala43Val)
|
|
|
NM_004168.4(SDHA):c.1291A>G (p.Ile431Val)
|
rs1579409384
|
|
NM_004168.4(SDHA):c.1292T>C (p.Ile431Thr)
|
rs776188923
|
|
NM_004168.4(SDHA):c.1294G>A (p.Val432Met)
|
rs2126589526
|
|
NM_004168.4(SDHA):c.1295T>C (p.Val432Ala)
|
rs1490844767
|
|
NM_004168.4(SDHA):c.1297C>T (p.Pro433Ser)
|
rs1560998056
|
|
NM_004168.4(SDHA):c.1300G>C (p.Gly434Arg)
|
rs529198317
|
|
NM_004168.4(SDHA):c.1304T>A (p.Leu435Gln)
|
rs1579409500
|
|
NM_004168.4(SDHA):c.1304T>C (p.Leu435Pro)
|
rs1579409500
|
|
NM_004168.4(SDHA):c.1309G>A (p.Ala437Thr)
|
rs1553999731
|
|
NM_004168.4(SDHA):c.130T>A (p.Ser44Thr)
|
|
|
NM_004168.4(SDHA):c.1313G>A (p.Cys438Tyr)
|
|
|
NM_004168.4(SDHA):c.1313G>C (p.Cys438Ser)
|
rs1424809160
|
|
NM_004168.4(SDHA):c.1313G>T (p.Cys438Phe)
|
rs1424809160
|
|
NM_004168.4(SDHA):c.1315G>A (p.Gly439Arg)
|
rs1579409601
|
|
NM_004168.4(SDHA):c.1316G>A (p.Gly439Glu)
|
rs374086655
|
|
NM_004168.4(SDHA):c.1316_1330dup (p.Gly439_Cys443dup)
|
rs768469627
|
|
NM_004168.4(SDHA):c.1318G>A (p.Glu440Lys)
|
rs1735789566
|
|
NM_004168.4(SDHA):c.1319A>C (p.Glu440Ala)
|
|
|
NM_004168.4(SDHA):c.1319A>G (p.Glu440Gly)
|
rs1735789704
|
|
NM_004168.4(SDHA):c.1319A>T (p.Glu440Val)
|
rs1735789704
|
|
NM_004168.4(SDHA):c.131C>A (p.Ser44Tyr)
|
rs1734835164
|
|
NM_004168.4(SDHA):c.131C>G (p.Ser44Cys)
|
|
|
NM_004168.4(SDHA):c.131C>T (p.Ser44Phe)
|
rs1734835164
|
|
NM_004168.4(SDHA):c.1320G>C (p.Glu440Asp)
|
|
|
NM_004168.4(SDHA):c.1321G>C (p.Ala441Pro)
|
|
|
NM_004168.4(SDHA):c.1324G>T (p.Ala442Ser)
|
rs754893758
|
|
NM_004168.4(SDHA):c.1325C>T (p.Ala442Val)
|
|
|
NM_004168.4(SDHA):c.1327T>C (p.Cys443Arg)
|
rs2126589848
|
|
NM_004168.4(SDHA):c.1330G>A (p.Ala444Thr)
|
|
|
NM_004168.4(SDHA):c.1330_1331delinsTT (p.Ala444Phe)
|
rs1735790227
|
|
NM_004168.4(SDHA):c.1336G>A (p.Val446Ile)
|
|
|
NM_004168.4(SDHA):c.1339C>T (p.His447Tyr)
|
rs2126589966
|
|
NM_004168.4(SDHA):c.133G>C (p.Ala45Pro)
|
rs140736646
|
|
NM_004168.4(SDHA):c.1340A>C (p.His447Pro)
|
rs779151375
|
|
NM_004168.4(SDHA):c.1342G>A (p.Gly448Ser)
|
rs1064795863
|
|
NM_004168.4(SDHA):c.1345G>A (p.Ala449Thr)
|
rs1485193902
|
|
NM_004168.4(SDHA):c.1345G>C (p.Ala449Pro)
|
|
|
NM_004168.4(SDHA):c.1346C>G (p.Ala449Gly)
|
rs201139275
|
|
NM_004168.4(SDHA):c.1346C>T (p.Ala449Val)
|
rs201139275
|
|
NM_004168.4(SDHA):c.1349A>G (p.Asn450Ser)
|
rs1579409723
|
|
NM_004168.4(SDHA):c.134C>T (p.Ala45Val)
|
rs1553997190
|
|
NM_004168.4(SDHA):c.1351C>A (p.Arg451Ser)
|
rs1553999752
|
|
NM_004168.4(SDHA):c.1354C>T (p.Leu452Phe)
|
rs1064796477
|
|
NM_004168.4(SDHA):c.1355T>C (p.Leu452Pro)
|
rs1735794275
|
|
NM_004168.4(SDHA):c.1360G>A (p.Ala454Thr)
|
rs1057517550
|
|
NM_004168.4(SDHA):c.1360G>T (p.Ala454Ser)
|
rs1057517550
|
|
NM_004168.4(SDHA):c.1361C>A (p.Ala454Glu)
|
rs1553999766
|
|
NM_004168.4(SDHA):c.1366T>G (p.Ser456Ala)
|
|
|
NM_004168.4(SDHA):c.1367C>G (p.Ser456Trp)
|
|
|
NM_004168.4(SDHA):c.1370T>A (p.Leu457His)
|
rs1579409887
|
|
NM_004168.4(SDHA):c.1374G>A (p.Leu458=)
|
rs1735797053
|
|
NM_004168.4(SDHA):c.1375G>C (p.Asp459His)
|
rs1735797208
|
|
NM_004168.4(SDHA):c.1376A>G (p.Asp459Gly)
|
rs2126590273
|
|
NM_004168.4(SDHA):c.1384G>A (p.Val462Ile)
|
|
|
NM_004168.4(SDHA):c.1387T>C (p.Phe463Leu)
|
|
|
NM_004168.4(SDHA):c.1390G>A (p.Gly464Ser)
|
rs2126590387
|
|
NM_004168.4(SDHA):c.1390G>C (p.Gly464Arg)
|
|
|
NM_004168.4(SDHA):c.1396G>C (p.Ala466Pro)
|
|
|
NM_004168.4(SDHA):c.1396G>T (p.Ala466Ser)
|
rs111387770
|
|
NM_004168.4(SDHA):c.13C>G (p.Arg5Gly)
|
rs770866830
|
|
NM_004168.4(SDHA):c.13C>T (p.Arg5Trp)
|
rs770866830
|
|
NM_004168.4(SDHA):c.1403C>T (p.Ala468Val)
|
rs1057524636
|
|
NM_004168.4(SDHA):c.1408A>C (p.Ser470Arg)
|
rs1735799664
|
|
NM_004168.4(SDHA):c.1409G>A (p.Ser470Asn)
|
rs1241820374
|
|
NM_004168.4(SDHA):c.1409G>T (p.Ser470Ile)
|
|
|
NM_004168.4(SDHA):c.1411A>G (p.Ile471Val)
|
rs1735800203
|
|
NM_004168.4(SDHA):c.1413C>G (p.Ile471Met)
|
rs34779890
|
|
NM_004168.4(SDHA):c.1416A>T (p.Glu472Asp)
|
|
|
NM_004168.4(SDHA):c.1417G>C (p.Glu473Gln)
|
rs2126590644
|
|
NM_004168.4(SDHA):c.1418A>C (p.Glu473Ala)
|
rs1560998495
|
|
NM_004168.4(SDHA):c.1420T>C (p.Ser474Pro)
|
rs2126590674
|
|
NM_004168.4(SDHA):c.1424G>C (p.Cys475Ser)
|
rs748567636
|
|
NM_004168.4(SDHA):c.1424G>T (p.Cys475Phe)
|
|
|
NM_004168.4(SDHA):c.1427G>A (p.Arg476Lys)
|
rs2126590736
|
|
NM_004168.4(SDHA):c.1428G>C (p.Arg476Ser)
|
rs377415114
|
|
NM_004168.4(SDHA):c.1428G>T (p.Arg476Ser)
|
rs377415114
|
|
NM_004168.4(SDHA):c.142T>A (p.Ser48Thr)
|
|
|
NM_004168.4(SDHA):c.1430C>A (p.Pro477His)
|
rs146990772
|
|
NM_004168.4(SDHA):c.1432+3A>G
|
|
|
NM_004168.4(SDHA):c.1432+4A>G
|
rs1553999798
|
|
NM_004168.4(SDHA):c.1432G>C (p.Gly478Arg)
|
|
|
NM_004168.4(SDHA):c.1433-3T>C
|
rs1736060812
|
|
NM_004168.4(SDHA):c.1436A>G (p.Asp479Gly)
|
|
|
NM_004168.4(SDHA):c.1436A>T (p.Asp479Val)
|
|
|
NM_004168.4(SDHA):c.1438A>G (p.Lys480Glu)
|
rs1579417444
|
|
NM_004168.4(SDHA):c.1439A>G (p.Lys480Arg)
|
|
|
NM_004168.4(SDHA):c.1441G>A (p.Val481Ile)
|
|
|
NM_004168.4(SDHA):c.1442T>G (p.Val481Gly)
|
rs1736061170
|
|
NM_004168.4(SDHA):c.1444C>T (p.Pro482Ser)
|
|
|
NM_004168.4(SDHA):c.1445C>G (p.Pro482Arg)
|
rs759661610
|
|
NM_004168.4(SDHA):c.1445C>T (p.Pro482Leu)
|
rs759661610
|
|
NM_004168.4(SDHA):c.1448C>T (p.Pro483Leu)
|
rs2126602519
|
|
NM_004168.4(SDHA):c.1453A>C (p.Lys485Gln)
|
|
|
NM_004168.4(SDHA):c.1453A>G (p.Lys485Glu)
|
rs1736062209
|
|
NM_004168.4(SDHA):c.1456C>T (p.Pro486Ser)
|
rs1060503706
|
|
NM_004168.4(SDHA):c.1457C>T (p.Pro486Leu)
|
rs1579417528
|
|
NM_004168.4(SDHA):c.145G>C (p.Asp49His)
|
rs1734836072
|
|
NM_004168.4(SDHA):c.1461C>A (p.Asn487Lys)
|
|
|
NM_004168.4(SDHA):c.1462G>T (p.Ala488Ser)
|
rs369100772
|
|
NM_004168.4(SDHA):c.1463C>T (p.Ala488Val)
|
rs1421325038
|
|
NM_004168.4(SDHA):c.1465G>A (p.Gly489Arg)
|
rs2126602614
|
|
NM_004168.4(SDHA):c.1466G>A (p.Gly489Glu)
|
|
|
NM_004168.4(SDHA):c.1466_1468del (p.Gly489del)
|
|
|
NM_004168.4(SDHA):c.1468G>A (p.Glu490Lys)
|
|
|
NM_004168.4(SDHA):c.1471G>A (p.Glu491Lys)
|
rs778207102
|
|
NM_004168.4(SDHA):c.1472A>G (p.Glu491Gly)
|
rs754324916
|
|
NM_004168.4(SDHA):c.1477G>T (p.Val493Phe)
|
rs1579417619
|
|
NM_004168.4(SDHA):c.1480A>G (p.Met494Val)
|
rs1579417628
|
|
NM_004168.4(SDHA):c.1481T>C (p.Met494Thr)
|
rs1561001630
|
|
NM_004168.4(SDHA):c.1484A>T (p.Asn495Ile)
|
|
|
NM_004168.4(SDHA):c.1486C>A (p.Leu496Ile)
|
rs1305001616
|
|
NM_004168.4(SDHA):c.148T>G (p.Ser50Ala)
|
rs1560985310
|
|
NM_004168.4(SDHA):c.1491C>G (p.Asp497Glu)
|
rs1579417658
|
|
NM_004168.4(SDHA):c.1492A>C (p.Lys498Gln)
|
|
|
NM_004168.4(SDHA):c.1493A>C (p.Lys498Thr)
|
|
|
NM_004168.4(SDHA):c.149C>A (p.Ser50Tyr)
|
rs369321221
|
|
NM_004168.4(SDHA):c.149C>G (p.Ser50Cys)
|
rs369321221
|
|
NM_004168.4(SDHA):c.14G>A (p.Arg5Gln)
|
rs779027774
|
|
NM_004168.4(SDHA):c.150+2dup
|
rs1560985349
|
|
NM_004168.4(SDHA):c.150+4A>G
|
rs1734837029
|
|
NM_004168.4(SDHA):c.150+6T>G
|
rs1060503699
|
|
NM_004168.4(SDHA):c.1502T>G (p.Phe501Cys)
|
rs757932443
|
|
NM_004168.4(SDHA):c.1507G>A (p.Asp503Asn)
|
rs2126602837
|
|
NM_004168.4(SDHA):c.1508A>C (p.Asp503Ala)
|
rs1736066055
|
|
NM_004168.4(SDHA):c.151-15A>G
|
|
|
NM_004168.4(SDHA):c.151-3C>T
|
|
|
NM_004168.4(SDHA):c.151-9C>G
|
rs1734881724
|
|
NM_004168.4(SDHA):c.1510G>A (p.Gly504Arg)
|
rs1579417710
|
|
NM_004168.4(SDHA):c.1514G>A (p.Ser505Asn)
|
rs1060503722
|
|
NM_004168.4(SDHA):c.1516A>G (p.Ile506Val)
|
rs1561001683
|
|
NM_004168.4(SDHA):c.1517T>C (p.Ile506Thr)
|
rs2126602878
|
|
NM_004168.4(SDHA):c.1520G>A (p.Arg507Lys)
|
|
|
NM_004168.4(SDHA):c.1522A>G (p.Thr508Ala)
|
rs1060503718
|
|
NM_004168.4(SDHA):c.1522A>T (p.Thr508Ser)
|
rs1060503718
|
|
NM_004168.4(SDHA):c.1525T>C (p.Ser509Pro)
|
rs1579417769
|
|
NM_004168.4(SDHA):c.1526C>T (p.Ser509Leu)
|
rs397514541
|
|
NM_004168.4(SDHA):c.1531C>G (p.Leu511Val)
|
rs768257880
|
|
NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln)
|
rs192818312
|
|
NM_004168.4(SDHA):c.1535G>C (p.Arg512Pro)
|
|
|
NM_004168.4(SDHA):c.1541G>A (p.Ser514Asn)
|
rs587781729
|
|
NM_004168.4(SDHA):c.1541G>C (p.Ser514Thr)
|
rs587781729
|
|
NM_004168.4(SDHA):c.1543A>G (p.Met515Val)
|
rs1736069297
|
|
NM_004168.4(SDHA):c.1545G>A (p.Met515Ile)
|
|
|
NM_004168.4(SDHA):c.1545G>T (p.Met515Ile)
|
rs1736069479
|
|
NM_004168.4(SDHA):c.1547A>G (p.Gln516Arg)
|
rs981171929
|
|
NM_004168.4(SDHA):c.1547A>T (p.Gln516Leu)
|
|
|
NM_004168.4(SDHA):c.1549A>G (p.Lys517Glu)
|
rs786205210
|
|
NM_004168.4(SDHA):c.1549_1551dup (p.Lys517dup)
|
rs1736070159
|
|
NM_004168.4(SDHA):c.1551+3A>G
|
rs767596385
|
|
NM_004168.4(SDHA):c.1551+4A>T
|
rs928294715
|
|
NM_004168.4(SDHA):c.1551+5G>C
|
rs2126603143
|
|
NM_004168.4(SDHA):c.1551+6A>G
|
rs369507726
|
|
NM_004168.4(SDHA):c.1552-10T>G
|
rs1736784473
|
|
NM_004168.4(SDHA):c.1552-173_1585dup
|
rs1736773597
|
|
NM_004168.4(SDHA):c.1552-3_1552-2del
|
rs2126631914
|
|
NM_004168.4(SDHA):c.1552T>A (p.Ser518Thr)
|
|
|
NM_004168.4(SDHA):c.1552T>C (p.Ser518Pro)
|
rs2126631929
|
|
NM_004168.4(SDHA):c.1553C>T (p.Ser518Leu)
|
rs2126631937
|
|
NM_004168.4(SDHA):c.1555A>G (p.Met519Val)
|
rs2126631942
|
|
NM_004168.4(SDHA):c.1557G>A (p.Met519Ile)
|
|
|
NM_004168.4(SDHA):c.1562A>G (p.Asn521Ser)
|
|
|
NM_004168.4(SDHA):c.1563T>A (p.Asn521Lys)
|
|
|
NM_004168.4(SDHA):c.1564C>T (p.His522Tyr)
|
|
|
NM_004168.4(SDHA):c.1564_1566del (p.His522del)
|
rs1325342549
|
|
NM_004168.4(SDHA):c.1565A>G (p.His522Arg)
|
|
|
NM_004168.4(SDHA):c.1567G>T (p.Ala523Ser)
|
rs1554001820
|
|
NM_004168.4(SDHA):c.1568C>A (p.Ala523Asp)
|
rs1736785630
|
|
NM_004168.4(SDHA):c.1568C>G (p.Ala523Gly)
|
rs1736785630
|
|
NM_004168.4(SDHA):c.1568C>T (p.Ala523Val)
|
rs1736785630
|
|
NM_004168.4(SDHA):c.1570G>A (p.Ala524Thr)
|
|
|
NM_004168.4(SDHA):c.1570G>T (p.Ala524Ser)
|
|
|
NM_004168.4(SDHA):c.1578C>A (p.Phe526Leu)
|
rs2126632042
|
|
NM_004168.4(SDHA):c.1582G>A (p.Val528Met)
|
rs1554001827
|
|
NM_004168.4(SDHA):c.1584G>A (p.Val528=)
|
|
|
NM_004168.4(SDHA):c.1586G>C (p.Gly529Ala)
|
rs2126632088
|
|
NM_004168.4(SDHA):c.1589G>A (p.Ser530Asn)
|
|
|
NM_004168.4(SDHA):c.158C>G (p.Ala53Gly)
|
|
|
NM_004168.4(SDHA):c.1591G>T (p.Val531Leu)
|
rs371056571
|
|
NM_004168.4(SDHA):c.1596G>T (p.Leu532Phe)
|
rs1449742263
|
|
NM_004168.4(SDHA):c.1598A>C (p.Gln533Pro)
|
rs1395387473
|
|
NM_004168.4(SDHA):c.1598A>T (p.Gln533Leu)
|
rs1395387473
|
|
NM_004168.4(SDHA):c.1598AAG[1] (p.Glu534del)
|
rs1736788779
|
|
NM_004168.4(SDHA):c.1600G>A (p.Glu534Lys)
|
|
|
NM_004168.4(SDHA):c.1604G>C (p.Gly535Ala)
|
rs1736789524
|
|
NM_004168.4(SDHA):c.1607G>A (p.Cys536Tyr)
|
rs1736789855
|
|
NM_004168.4(SDHA):c.1607G>T (p.Cys536Phe)
|
|
|
NM_004168.4(SDHA):c.1608T>G (p.Cys536Trp)
|
|
|
NM_004168.4(SDHA):c.1609G>A (p.Gly537Arg)
|
rs1736789994
|
|
NM_004168.4(SDHA):c.1610G>C (p.Gly537Ala)
|
|
|
NM_004168.4(SDHA):c.1615A>G (p.Ile539Val)
|
|
|
NM_004168.4(SDHA):c.1616T>G (p.Ile539Ser)
|
rs749219128
|
|
NM_004168.4(SDHA):c.161A>G (p.Gln54Arg)
|
|
|
NM_004168.4(SDHA):c.1621A>G (p.Lys541Glu)
|
rs1736791200
|
|
NM_004168.4(SDHA):c.1624C>T (p.Leu542Phe)
|
|
|
NM_004168.4(SDHA):c.1625T>C (p.Leu542Pro)
|
rs1233761838
|
|
NM_004168.4(SDHA):c.1631G>A (p.Gly544Glu)
|
rs2126632293
|
|
NM_004168.4(SDHA):c.1633G>A (p.Asp545Asn)
|
rs1736792773
|
|
NM_004168.4(SDHA):c.1633G>T (p.Asp545Tyr)
|
rs1736792773
|
|
NM_004168.4(SDHA):c.1639A>C (p.Lys547Gln)
|
|
|
NM_004168.4(SDHA):c.1640A>G (p.Lys547Arg)
|
rs1561010407
|
|
NM_004168.4(SDHA):c.1643A>G (p.His548Arg)
|
|
|
NM_004168.4(SDHA):c.1645C>G (p.Leu549Val)
|
rs1554001867
|
|
NM_004168.4(SDHA):c.1646T>C (p.Leu549Pro)
|
rs1579438155
|
|
NM_004168.4(SDHA):c.1648A>C (p.Lys550Gln)
|
rs1400219619
|
|
NM_004168.4(SDHA):c.164A>G (p.Tyr55Cys)
|
rs2126542365
|
|
NM_004168.4(SDHA):c.1651A>G (p.Thr551Ala)
|
rs1200051286
|
|
NM_004168.4(SDHA):c.1654T>G (p.Phe552Val)
|
rs1736795269
|
|
NM_004168.4(SDHA):c.1658A>C (p.Asp553Ala)
|
rs1060503723
|
|
NM_004168.4(SDHA):c.1661G>C (p.Arg554Pro)
|
|
|
NM_004168.4(SDHA):c.1661G>T (p.Arg554Leu)
|
rs376391115
|
|
NM_004168.4(SDHA):c.1662G>C (p.Arg554=)
|
rs1579438241
|
|
NM_004168.4(SDHA):c.1662G>T (p.Arg554=)
|
rs1579438241
|
|
NM_004168.4(SDHA):c.1663+5G>C
|
rs1736797211
|
|
NM_004168.4(SDHA):c.1663+6C>G
|
rs1736797323
|
|
NM_004168.4(SDHA):c.1663G>A (p.Gly555Arg)
|
rs1392860800
|
|
NM_004168.4(SDHA):c.1663G>C (p.Gly555Arg)
|
rs1392860800
|
|
NM_004168.4(SDHA):c.1664-3C>T
|
|
|
NM_004168.4(SDHA):c.1667T>A (p.Met556Lys)
|
rs1579438769
|
|
NM_004168.4(SDHA):c.1667T>C (p.Met556Thr)
|
rs1579438769
|
|
NM_004168.4(SDHA):c.1668G>A (p.Met556Ile)
|
rs2126633148
|
|
NM_004168.4(SDHA):c.1669G>A (p.Val557Ile)
|
|
|
NM_004168.4(SDHA):c.166C>A (p.Pro56Thr)
|
rs2126542374
|
|
NM_004168.4(SDHA):c.1670T>C (p.Val557Ala)
|
|
|
NM_004168.4(SDHA):c.1674G>T (p.Trp558Cys)
|
rs1561010726
|
|
NM_004168.4(SDHA):c.1678A>G (p.Thr560Ala)
|
rs1269114291
|
|
NM_004168.4(SDHA):c.167C>T (p.Pro56Leu)
|
|
|
NM_004168.4(SDHA):c.1684C>A (p.Leu562Met)
|
rs1561010740
|
|
NM_004168.4(SDHA):c.1684C>G (p.Leu562Val)
|
rs1561010740
|
|
NM_004168.4(SDHA):c.1685T>C (p.Leu562Pro)
|
rs1736814018
|
|
NM_004168.4(SDHA):c.1687G>T (p.Val563Leu)
|
rs1736814459
|
|
NM_004168.4(SDHA):c.1691A>G (p.Glu564Gly)
|
rs763529675
|
|
NM_004168.4(SDHA):c.1692G>C (p.Glu564Asp)
|
rs368388954
|
|
NM_004168.4(SDHA):c.1694C>T (p.Thr565Ile)
|
rs757176672
|
|
NM_004168.4(SDHA):c.1697T>G (p.Leu566Arg)
|
rs1579438883
|
|
NM_004168.4(SDHA):c.1699G>A (p.Glu567Lys)
|
rs1736816371
|
|
NM_004168.4(SDHA):c.169G>A (p.Val57Ile)
|
rs1060503724
|
|
NM_004168.4(SDHA):c.169G>T (p.Val57Leu)
|
rs1060503724
|
|
NM_004168.4(SDHA):c.16G>C (p.Gly6Arg)
|
rs1352756438
|
|
NM_004168.4(SDHA):c.1702C>G (p.Leu568Val)
|
rs1554001912
|
|
NM_004168.4(SDHA):c.1706A>G (p.Gln569Arg)
|
|
|
NM_004168.4(SDHA):c.1707G>C (p.Gln569His)
|
|
|
NM_004168.4(SDHA):c.1708A>T (p.Asn570Tyr)
|
rs1561010778
|
|
NM_004168.4(SDHA):c.1709A>C (p.Asn570Thr)
|
|
|
NM_004168.4(SDHA):c.170T>A (p.Val57Glu)
|
rs1734883606
|
|
NM_004168.4(SDHA):c.1710C>A (p.Asn570Lys)
|
|
|
NM_004168.4(SDHA):c.1711C>G (p.Leu571Val)
|
rs1377424433
|
|
NM_004168.4(SDHA):c.1712T>C (p.Leu571Pro)
|
rs1736817446
|
|
NM_004168.4(SDHA):c.1715T>C (p.Met572Thr)
|
rs1554001925
|
|
NM_004168.4(SDHA):c.1715T>G (p.Met572Arg)
|
rs1554001925
|
|
NM_004168.4(SDHA):c.1721G>A (p.Cys574Tyr)
|
rs2126633379
|
|
NM_004168.4(SDHA):c.1723G>A (p.Ala575Thr)
|
rs1301370839
|
|
NM_004168.4(SDHA):c.172G>A (p.Val58Met)
|
|
|
NM_004168.4(SDHA):c.1733C>A (p.Thr578Asn)
|
rs1349207461
|
|
NM_004168.4(SDHA):c.1733C>T (p.Thr578Ile)
|
rs1349207461
|
|
NM_004168.4(SDHA):c.1735A>G (p.Ile579Val)
|
rs1042052
|
|
NM_004168.4(SDHA):c.1736T>C (p.Ile579Thr)
|
rs1323205068
|
|
NM_004168.4(SDHA):c.1738T>A (p.Tyr580Asn)
|
|
|
NM_004168.4(SDHA):c.1738T>C (p.Tyr580His)
|
rs1042056
|
|
NM_004168.4(SDHA):c.1739A>T (p.Tyr580Phe)
|
|
|
NM_004168.4(SDHA):c.173T>G (p.Val58Gly)
|
rs2126542426
|
|
NM_004168.4(SDHA):c.1742G>A (p.Gly581Glu)
|
|
|
NM_004168.4(SDHA):c.1744G>C (p.Ala582Pro)
|
rs1736821952
|
|
NM_004168.4(SDHA):c.1751_1752inv (p.Ala584Val)
|
|
|
NM_004168.4(SDHA):c.1756A>C (p.Lys586Gln)
|
|
|
NM_004168.4(SDHA):c.1756A>G (p.Lys586Glu)
|
rs1736823607
|
|
NM_004168.4(SDHA):c.1759G>A (p.Glu587Lys)
|
rs1554001954
|
|
NM_004168.4(SDHA):c.175G>A (p.Asp59Asn)
|
|
|
NM_004168.4(SDHA):c.1763C>T (p.Ser588Leu)
|
rs1579439198
|
|
NM_004168.4(SDHA):c.1768G>A (p.Gly590Ser)
|
rs1736825032
|
|
NM_004168.4(SDHA):c.1769G>A (p.Gly590Asp)
|
rs2126633698
|
|
NM_004168.4(SDHA):c.176A>G (p.Asp59Gly)
|
rs775449731
|
|
NM_004168.4(SDHA):c.1774C>A (p.His592Asn)
|
rs1579439269
|
|
NM_004168.4(SDHA):c.1774C>T (p.His592Tyr)
|
rs1579439269
|
|
NM_004168.4(SDHA):c.1775A>G (p.His592Arg)
|
rs1554001966
|
|
NM_004168.4(SDHA):c.1776T>G (p.His592Gln)
|
rs1126538
|
|
NM_004168.4(SDHA):c.1777G>A (p.Ala593Thr)
|
rs1736827311
|
|
NM_004168.4(SDHA):c.1778C>A (p.Ala593Asp)
|
rs1736827451
|
|
NM_004168.4(SDHA):c.1778C>T (p.Ala593Val)
|
rs1736827451
|
|
NM_004168.4(SDHA):c.1780A>G (p.Arg594Gly)
|
|
|
NM_004168.4(SDHA):c.1781G>T (p.Arg594Met)
|
|
|
NM_004168.4(SDHA):c.1782G>C (p.Arg594Ser)
|
|
|
NM_004168.4(SDHA):c.1783G>A (p.Glu595Lys)
|
|
|
NM_004168.4(SDHA):c.1786G>C (p.Asp596His)
|
rs371304688
|
|
NM_004168.4(SDHA):c.1786G>T (p.Asp596Tyr)
|
rs371304688
|
|
NM_004168.4(SDHA):c.1787A>T (p.Asp596Val)
|
|
|
NM_004168.4(SDHA):c.1789T>C (p.Tyr597His)
|
rs1060503721
|
|
NM_004168.4(SDHA):c.1789_1791del (p.Tyr597del)
|
|
|
NM_004168.4(SDHA):c.1790A>G (p.Tyr597Cys)
|
rs1736828708
|
|
NM_004168.4(SDHA):c.1790A>T (p.Tyr597Phe)
|
rs1736828708
|
|
NM_004168.4(SDHA):c.1792A>G (p.Lys598Glu)
|
rs2126633857
|
|
NM_004168.4(SDHA):c.1793A>G (p.Lys598Arg)
|
rs1579439363
|
|
NM_004168.4(SDHA):c.1794+3G>A
|
rs375883981
|
|
NM_004168.4(SDHA):c.1794+4G>A
|
|
|
NM_004168.4(SDHA):c.1794+4G>T
|
|
|
NM_004168.4(SDHA):c.1794+5G>A
|
|
|
NM_004168.4(SDHA):c.1794+5G>C
|
rs1205244370
|
|
NM_004168.4(SDHA):c.1794G>A (p.Lys598=)
|
rs1554001975
|
|
NM_004168.4(SDHA):c.1795-6C>A
|
rs756792828
|
|
NM_004168.4(SDHA):c.17G>C (p.Gly6Ala)
|
rs187964306
|
|
NM_004168.4(SDHA):c.17G>T (p.Gly6Val)
|
rs187964306
|
|
NM_004168.4(SDHA):c.1804G>A (p.Asp602Asn)
|
rs1737043619
|
|
NM_004168.4(SDHA):c.1808A>G (p.Glu603Gly)
|
rs1737044250
|
|
NM_004168.4(SDHA):c.1811A>G (p.Tyr604Cys)
|
rs1737044552
|
|
NM_004168.4(SDHA):c.1813G>C (p.Asp605His)
|
rs771593214
|
|
NM_004168.4(SDHA):c.1816T>A (p.Tyr606Asn)
|
rs17400614
|
|
NM_004168.4(SDHA):c.181G>C (p.Glu61Gln)
|
|
|
NM_004168.4(SDHA):c.1825C>T (p.Pro609Ser)
|
rs1737046014
|
|
NM_004168.4(SDHA):c.1826C>G (p.Pro609Arg)
|
rs2126641323
|
|
NM_004168.4(SDHA):c.1828A>G (p.Ile610Val)
|
rs1554002446
|
|
NM_004168.4(SDHA):c.1830C>G (p.Ile610Met)
|
rs1209697697
|
|
NM_004168.4(SDHA):c.1832A>G (p.Gln611Arg)
|
rs1737046877
|
|
NM_004168.4(SDHA):c.1834G>A (p.Gly612Arg)
|
rs1737047578
|
|
NM_004168.4(SDHA):c.1835G>A (p.Gly612Glu)
|
rs1057523336
|
|
NM_004168.4(SDHA):c.1843AAG[1] (p.Lys616del)
|
rs1737048556
|
|
NM_004168.4(SDHA):c.1846A>G (p.Lys616Glu)
|
rs1453752069
|
|
NM_004168.4(SDHA):c.1849C>T (p.Pro617Ser)
|
rs1199988395
|
|
NM_004168.4(SDHA):c.1850C>T (p.Pro617Leu)
|
rs1485754812
|
|
NM_004168.4(SDHA):c.1861C>G (p.His621Asp)
|
rs1554002475
|
|
NM_004168.4(SDHA):c.1862A>G (p.His621Arg)
|
rs1737050290
|
|
NM_004168.4(SDHA):c.1863C>G (p.His621Gln)
|
rs1554002478
|
|
NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter)
|
rs1579445179
|
|
NM_004168.4(SDHA):c.1871A>G (p.Lys624Arg)
|
rs1579445190
|
|
NM_004168.4(SDHA):c.1873C>T (p.His625Tyr)
|
rs1554002483
|
|
NM_004168.4(SDHA):c.1880T>G (p.Leu627Arg)
|
rs1737051659
|
|
NM_004168.4(SDHA):c.1880dup (p.Ser628fs)
|
rs1579445237
|
|
NM_004168.4(SDHA):c.1885T>A (p.Tyr629Asn)
|
rs1579445293
|
|
NM_004168.4(SDHA):c.1886A>C (p.Tyr629Ser)
|
rs6960
|
|
NM_004168.4(SDHA):c.1886A>G (p.Tyr629Cys)
|
rs6960
|
|
NM_004168.4(SDHA):c.188A>G (p.Asp63Gly)
|
rs1553997327
|
|
NM_004168.4(SDHA):c.188A>T (p.Asp63Val)
|
rs1553997327
|
|
NM_004168.4(SDHA):c.1890G>A (p.Val630=)
|
rs1405784467
|
|
NM_004168.4(SDHA):c.1891G>A (p.Asp631Asn)
|
rs776500078
|
|
NM_004168.4(SDHA):c.1893C>A (p.Asp631Glu)
|
rs1364764796
|
|
NM_004168.4(SDHA):c.1894G>A (p.Val632Ile)
|
rs369639811
|
|
NM_004168.4(SDHA):c.1894G>T (p.Val632Phe)
|
rs369639811
|
|
NM_004168.4(SDHA):c.1897G>A (p.Gly633Ser)
|
rs2126641674
|
|
NM_004168.4(SDHA):c.1900A>G (p.Thr634Ala)
|
rs1017441235
|
|
NM_004168.4(SDHA):c.1900A>T (p.Thr634Ser)
|
rs1017441235
|
|
NM_004168.4(SDHA):c.1903G>A (p.Gly635Arg)
|
rs1737055056
|
|
NM_004168.4(SDHA):c.1908+2T>C
|
rs1737056056
|
|
NM_004168.4(SDHA):c.1908G>T (p.Lys636Asn)
|
rs1244151760
|
|
NM_004168.4(SDHA):c.1909-3A>G
|
|
|
NM_004168.4(SDHA):c.1909-5T>G
|
rs1197849830
|
|
NM_004168.4(SDHA):c.1909-8_1909-4del
|
rs1737179400
|
|
NM_004168.4(SDHA):c.1909G>A (p.Val637Ile)
|
rs769599373
|
|
NM_004168.4(SDHA):c.190G>A (p.Ala64Thr)
|
rs1734884655
|
|
NM_004168.4(SDHA):c.1910T>C (p.Val637Ala)
|
rs1737179959
|
|
NM_004168.4(SDHA):c.1913C>G (p.Thr638Ser)
|
rs370133236
|
|
NM_004168.4(SDHA):c.1913del (p.Thr638fs)
|
rs1554002857
|
|
NM_004168.4(SDHA):c.1918G>C (p.Glu640Gln)
|
|
|
NM_004168.4(SDHA):c.1922A>G (p.Tyr641Cys)
|
|
|
NM_004168.4(SDHA):c.1927C>A (p.Pro643Thr)
|
rs1579448568
|
|
NM_004168.4(SDHA):c.1927C>T (p.Pro643Ser)
|
rs1579448568
|
|
NM_004168.4(SDHA):c.1931T>G (p.Val644Gly)
|
|
|
NM_004168.4(SDHA):c.1933A>G (p.Ile645Val)
|
|
|
NM_004168.4(SDHA):c.193G>T (p.Val65Leu)
|
|
|
NM_004168.4(SDHA):c.1940A>G (p.Lys647Arg)
|
rs1737186768
|
|
NM_004168.4(SDHA):c.1943del (p.Thr648fs)
|
rs2126645882
|
|
NM_004168.4(SDHA):c.1945T>G (p.Leu649Val)
|
rs1737187966
|
|
NM_004168.4(SDHA):c.1946T>C (p.Leu649Ser)
|
|
|
NM_004168.4(SDHA):c.1946T>G (p.Leu649Trp)
|
rs899598021
|
|
NM_004168.4(SDHA):c.194T>C (p.Val65Ala)
|
|
|
NM_004168.4(SDHA):c.1951G>C (p.Glu651Gln)
|
rs375396913
|
|
NM_004168.4(SDHA):c.1951del (p.Glu651fs)
|
rs1561016316
|
|
NM_004168.4(SDHA):c.1952A>G (p.Glu651Gly)
|
rs1737189246
|
|
NM_004168.4(SDHA):c.1953G>T (p.Glu651Asp)
|
rs1579448683
|
|
NM_004168.4(SDHA):c.1954G>A (p.Ala652Thr)
|
rs1737189728
|
|
NM_004168.4(SDHA):c.1955C>T (p.Ala652Val)
|
rs1554002888
|
|
NM_004168.4(SDHA):c.1958A>C (p.Asp653Ala)
|
rs1737190360
|
|
NM_004168.4(SDHA):c.1958A>G (p.Asp653Gly)
|
|
|
NM_004168.4(SDHA):c.1958A>T (p.Asp653Val)
|
rs1737190360
|
|
NM_004168.4(SDHA):c.1960T>A (p.Cys654Ser)
|
|
|
NM_004168.4(SDHA):c.1961G>C (p.Cys654Ser)
|
rs1554002895
|
|
NM_004168.4(SDHA):c.1962_1963del (p.Ala655fs)
|
rs2126645995
|
|
NM_004168.4(SDHA):c.1963G>C (p.Ala655Pro)
|
|
|
NM_004168.4(SDHA):c.1964C>T (p.Ala655Val)
|
|
|
NM_004168.4(SDHA):c.1966A>C (p.Thr656Pro)
|
|
|
NM_004168.4(SDHA):c.1972C>A (p.Pro658Thr)
|
rs2126646066
|
|
NM_004168.4(SDHA):c.1975C>G (p.Pro659Ala)
|
|
|
NM_004168.4(SDHA):c.1979C>T (p.Ala660Val)
|
rs191412461
|
|
NM_004168.4(SDHA):c.1982T>C (p.Ile661Thr)
|
|
|
NM_004168.4(SDHA):c.1984C>T (p.Arg662Cys)
|
rs1737195067
|
|
NM_004168.4(SDHA):c.1988C>T (p.Ser663Phe)
|
rs1060503719
|
|
NM_004168.4(SDHA):c.1990T>C (p.Tyr664His)
|
|
|
NM_004168.4(SDHA):c.199G>A (p.Val67Ile)
|
|
|
NM_004168.4(SDHA):c.19C>G (p.Leu7Val)
|
rs760964443
|
|
NM_004168.4(SDHA):c.200T>C (p.Val67Ala)
|
|
|
NM_004168.4(SDHA):c.202G>A (p.Gly68Ser)
|
|
|
NM_004168.4(SDHA):c.204C>T (p.Gly68=)
|
rs1055082816
|
|
NM_004168.4(SDHA):c.205G>T (p.Ala69Ser)
|
|
|
NM_004168.4(SDHA):c.209G>C (p.Gly70Ala)
|
rs2126542624
|
|
NM_004168.4(SDHA):c.20T>C (p.Leu7Pro)
|
rs1734500083
|
|
NM_004168.4(SDHA):c.211G>A (p.Gly71Arg)
|
rs1734887299
|
|
NM_004168.4(SDHA):c.215C>T (p.Ala72Val)
|
rs1204881025
|
|
NM_004168.4(SDHA):c.217G>A (p.Gly73Ser)
|
|
|
NM_004168.4(SDHA):c.218G>T (p.Gly73Val)
|
rs1553997347
|
|
NM_004168.4(SDHA):c.221T>C (p.Leu74Ser)
|
rs763220651
|
|
NM_004168.4(SDHA):c.222G>C (p.Leu74Phe)
|
|
|
NM_004168.4(SDHA):c.224G>C (p.Arg75Pro)
|
|
|
NM_004168.4(SDHA):c.227C>T (p.Ala76Val)
|
rs1734888838
|
|
NM_004168.4(SDHA):c.22T>C (p.Ser8Pro)
|
rs768328967
|
|
NM_004168.4(SDHA):c.233T>C (p.Phe78Ser)
|
|
|
NM_004168.4(SDHA):c.236G>A (p.Gly79Asp)
|
rs759568419
|
|
NM_004168.4(SDHA):c.23C>T (p.Ser8Leu)
|
rs878854631
|
|
NM_004168.4(SDHA):c.242C>T (p.Ser81Phe)
|
rs1553997357
|
|
NM_004168.4(SDHA):c.250G>A (p.Gly84Arg)
|
rs2126542993
|
|
NM_004168.4(SDHA):c.250G>C (p.Gly84Arg)
|
|
|
NM_004168.4(SDHA):c.251G>A (p.Gly84Glu)
|
rs199615452
|
|
NM_004168.4(SDHA):c.256A>G (p.Asn86Asp)
|
rs200519133
|
|
NM_004168.4(SDHA):c.257A>G (p.Asn86Ser)
|
rs2126543056
|
|
NM_004168.4(SDHA):c.25C>G (p.Arg9Gly)
|
rs776218604
|
|
NM_004168.4(SDHA):c.262G>A (p.Ala88Thr)
|
rs2126543077
|
|
NM_004168.4(SDHA):c.263C>A (p.Ala88Glu)
|
|
|
NM_004168.4(SDHA):c.263C>G (p.Ala88Gly)
|
rs1734891785
|
|
NM_004168.4(SDHA):c.263C>T (p.Ala88Val)
|
rs1734891785
|
|
NM_004168.4(SDHA):c.266G>A (p.Cys89Tyr)
|
rs138016874
|
|
NM_004168.4(SDHA):c.268G>A (p.Val90Ile)
|
rs2126543120
|
|
NM_004168.4(SDHA):c.269T>C (p.Val90Ala)
|
rs886060514
|
|
NM_004168.4(SDHA):c.26G>A (p.Arg9Gln)
|
rs761508577
|
|
NM_004168.4(SDHA):c.26G>T (p.Arg9Leu)
|
rs761508577
|
|
NM_004168.4(SDHA):c.272C>T (p.Thr91Ile)
|
|
|
NM_004168.4(SDHA):c.274A>C (p.Lys92Gln)
|
rs1734892884
|
|
NM_004168.4(SDHA):c.275A>G (p.Lys92Arg)
|
rs778267118
|
|
NM_004168.4(SDHA):c.276G>C (p.Lys92Asn)
|
rs375298039
|
|
NM_004168.4(SDHA):c.278T>C (p.Leu93Pro)
|
rs1326611328
|
|
NM_004168.4(SDHA):c.283C>G (p.Pro95Ala)
|
|
|
NM_004168.4(SDHA):c.286A>G (p.Thr96Ala)
|
|
|
NM_004168.4(SDHA):c.293C>T (p.Ser98Leu)
|
rs1579381851
|
|
NM_004168.4(SDHA):c.296A>G (p.His99Arg)
|
rs1579381882
|
|
NM_004168.4(SDHA):c.29T>C (p.Leu10Pro)
|
rs2126522536
|
|
NM_004168.4(SDHA):c.301G>T (p.Val101Phe)
|
|
|
NM_004168.4(SDHA):c.304G>C (p.Ala102Pro)
|
|
|
NM_004168.4(SDHA):c.304_305delinsAT (p.Ala102Ile)
|
rs1734896344
|
|
NM_004168.4(SDHA):c.305C>T (p.Ala102Val)
|
rs1240528592
|
|
NM_004168.4(SDHA):c.307G>A (p.Ala103Thr)
|
rs1553997389
|
|
NM_004168.4(SDHA):c.308C>T (p.Ala103Val)
|
|
|
NM_004168.4(SDHA):c.308_309inv (p.Ala103Val)
|
|
|
NM_004168.4(SDHA):c.312+4A>C
|
|
|
NM_004168.4(SDHA):c.312+5G>C
|
|
|
NM_004168.4(SDHA):c.312G>A (p.Gln104=)
|
rs2126543437
|
|
NM_004168.4(SDHA):c.313-11G>A
|
rs1734951831
|
|
NM_004168.4(SDHA):c.313-12del
|
|
|
NM_004168.4(SDHA):c.313-13T>C
|
|
|
NM_004168.4(SDHA):c.313G>A (p.Gly105Arg)
|
rs2126546583
|
|
NM_004168.4(SDHA):c.314_315delinsTT (p.Gly105Val)
|
rs1734953252
|
|
NM_004168.4(SDHA):c.316G>C (p.Gly106Arg)
|
rs1579383936
|
|
NM_004168.4(SDHA):c.319A>G (p.Ile107Val)
|
rs1060503720
|
|
NM_004168.4(SDHA):c.320T>A (p.Ile107Asn)
|
rs1734953616
|
|
NM_004168.4(SDHA):c.320T>G (p.Ile107Ser)
|
rs1734953616
|
|
NM_004168.4(SDHA):c.321C>G (p.Ile107Met)
|
rs1734953765
|
|
NM_004168.4(SDHA):c.322A>G (p.Asn108Asp)
|
|
|
NM_004168.4(SDHA):c.329C>T (p.Ala110Val)
|
|
|
NM_004168.4(SDHA):c.32T>A (p.Leu11Gln)
|
rs1139422
|
|
NM_004168.4(SDHA):c.32T>G (p.Leu11Arg)
|
|
|
NM_004168.4(SDHA):c.334G>A (p.Gly112Arg)
|
rs751114575
|
|
NM_004168.4(SDHA):c.337A>G (p.Asn113Asp)
|
rs1450249875
|
|
NM_004168.4(SDHA):c.338A>C (p.Asn113Thr)
|
rs1734955271
|
|
NM_004168.4(SDHA):c.338A>G (p.Asn113Ser)
|
rs1734955271
|
|
NM_004168.4(SDHA):c.338A>T (p.Asn113Ile)
|
rs1734955271
|
|
NM_004168.4(SDHA):c.341T>A (p.Met114Lys)
|
|
|
NM_004168.4(SDHA):c.342GGA[2] (p.Glu116del)
|
rs1734955897
|
|
NM_004168.4(SDHA):c.345G>C (p.Glu115Asp)
|
rs368286780
|
|
NM_004168.4(SDHA):c.347A>G (p.Glu116Gly)
|
|
|
NM_004168.4(SDHA):c.349G>A (p.Asp117Asn)
|
rs2126546832
|
|
NM_004168.4(SDHA):c.34A>G (p.Ser12Gly)
|
rs1734501874
|
|
NM_004168.4(SDHA):c.350A>G (p.Asp117Gly)
|
rs1579384062
|
|
NM_004168.4(SDHA):c.353A>G (p.Asn118Ser)
|
rs987288514
|
|
NM_004168.4(SDHA):c.355T>C (p.Trp119Arg)
|
rs1734957208
|
|
NM_004168.4(SDHA):c.359G>A (p.Arg120Lys)
|
rs2126546923
|
|
NM_004168.4(SDHA):c.364C>A (p.His122Asn)
|
|
|
NM_004168.4(SDHA):c.365A>G (p.His122Arg)
|
rs1579384131
|
|
NM_004168.4(SDHA):c.368T>G (p.Phe123Cys)
|
|
|
NM_004168.4(SDHA):c.369C>G (p.Phe123Leu)
|
rs1579384137
|
|
NM_004168.4(SDHA):c.36C>A (p.Ser12Arg)
|
rs1734502045
|
|
NM_004168.4(SDHA):c.370T>C (p.Tyr124His)
|
rs2126546996
|
|
NM_004168.4(SDHA):c.371_372inv (p.Tyr124Cys)
|
|
|
NM_004168.4(SDHA):c.373G>C (p.Asp125His)
|
rs780654623
|
|
NM_004168.4(SDHA):c.377C>T (p.Thr126Ile)
|
|
|
NM_004168.4(SDHA):c.37G>A (p.Ala13Thr)
|
|
|
NM_004168.4(SDHA):c.386G>A (p.Gly129Asp)
|
rs2126547166
|
|
NM_004168.4(SDHA):c.389C>G (p.Ser130Cys)
|
rs1553997625
|
|
NM_004168.4(SDHA):c.38C>A (p.Ala13Asp)
|
|
|
NM_004168.4(SDHA):c.392A>G (p.Asp131Gly)
|
rs2126547239
|
|
NM_004168.4(SDHA):c.396G>T (p.Trp132Cys)
|
rs1734960239
|
|
NM_004168.4(SDHA):c.397C>G (p.Leu133Val)
|
rs2126547261
|
|
NM_004168.4(SDHA):c.397C>T (p.Leu133=)
|
rs2126547261
|
|
NM_004168.4(SDHA):c.401G>T (p.Gly134Val)
|
|
|
NM_004168.4(SDHA):c.403G>A (p.Asp135Asn)
|
rs1734960553
|
|
NM_004168.4(SDHA):c.406C>G (p.Gln136Glu)
|
rs1365359024
|
|
NM_004168.4(SDHA):c.407A>T (p.Gln136Leu)
|
rs876660259
|
|
NM_004168.4(SDHA):c.409G>T (p.Asp137Tyr)
|
rs1734961262
|
|
NM_004168.4(SDHA):c.40C>G (p.Arg14Gly)
|
rs1192077362
|
|
NM_004168.4(SDHA):c.40C>T (p.Arg14Trp)
|
rs1192077362
|
|
NM_004168.4(SDHA):c.410A>T (p.Asp137Val)
|
|
|
NM_004168.4(SDHA):c.411T>A (p.Asp137Glu)
|
rs1444399160
|
|
NM_004168.4(SDHA):c.411T>G (p.Asp137Glu)
|
rs1444399160
|
|
NM_004168.4(SDHA):c.412G>A (p.Ala138Thr)
|
|
|
NM_004168.4(SDHA):c.412G>T (p.Ala138Ser)
|
|
|
NM_004168.4(SDHA):c.413C>T (p.Ala138Val)
|
rs1342456775
|
|
NM_004168.4(SDHA):c.415A>G (p.Ile139Val)
|
|
|
NM_004168.4(SDHA):c.418C>T (p.His140Tyr)
|
|
|
NM_004168.4(SDHA):c.419A>G (p.His140Arg)
|
rs759266253
|
|
NM_004168.4(SDHA):c.41G>C (p.Arg14Pro)
|
|
|
NM_004168.4(SDHA):c.421T>C (p.Tyr141His)
|
rs1553997643
|
|
NM_004168.4(SDHA):c.421T>G (p.Tyr141Asp)
|
rs1553997643
|
|
NM_004168.4(SDHA):c.424A>C (p.Met142Leu)
|
rs776848209
|
|
NM_004168.4(SDHA):c.425_426delinsAC (p.Met142Asn)
|
rs2126547518
|
|
NM_004168.4(SDHA):c.428C>T (p.Thr143Met)
|
rs200675907
|
|
NM_004168.4(SDHA):c.431A>C (p.Glu144Ala)
|
|
|
NM_004168.4(SDHA):c.434A>G (p.Gln145Arg)
|
|
|
NM_004168.4(SDHA):c.436G>A (p.Ala146Thr)
|
|
|
NM_004168.4(SDHA):c.436G>C (p.Ala146Pro)
|
|
|
NM_004168.4(SDHA):c.437C>T (p.Ala146Val)
|
rs1060503714
|
|
NM_004168.4(SDHA):c.440C>A (p.Pro147His)
|
rs763191656
|
|
NM_004168.4(SDHA):c.442G>T (p.Ala148Ser)
|
rs375576259
|
|
NM_004168.4(SDHA):c.446C>T (p.Ala149Val)
|
rs1060503709
|
|
NM_004168.4(SDHA):c.44G>C (p.Arg15Pro)
|
rs1060503707
|
|
NM_004168.4(SDHA):c.44G>T (p.Arg15Leu)
|
|
|
NM_004168.4(SDHA):c.454G>C (p.Glu152Gln)
|
rs778737664
|
|
NM_004168.4(SDHA):c.456+11G>A
|
|
|
NM_004168.4(SDHA):c.456+12G>C
|
|
|
NM_004168.4(SDHA):c.456+3G>T
|
rs1362754028
|
|
NM_004168.4(SDHA):c.456+3_456+4delinsCT
|
rs1734966566
|
|
NM_004168.4(SDHA):c.456+4A>T
|
|
|
NM_004168.4(SDHA):c.456+4del
|
|
|
NM_004168.4(SDHA):c.456+6G>C
|
|
|
NM_004168.4(SDHA):c.456+7G>A
|
|
|
NM_004168.4(SDHA):c.456G>A (p.Glu152=)
|
rs1579384590
|
|
NM_004168.4(SDHA):c.457-3C>T
|
|
|
NM_004168.4(SDHA):c.457-4A>T
|
|
|
NM_004168.4(SDHA):c.457C>T (p.Leu153=)
|
|
|
NM_004168.4(SDHA):c.460G>A (p.Glu154Lys)
|
rs1560987595
|
|
NM_004168.4(SDHA):c.465T>G (p.Asn155Lys)
|
|
|
NM_004168.4(SDHA):c.466T>C (p.Tyr156His)
|
|
|
NM_004168.4(SDHA):c.467A>G (p.Tyr156Cys)
|
|
|
NM_004168.4(SDHA):c.467A>T (p.Tyr156Phe)
|
rs774589410
|
|
NM_004168.4(SDHA):c.469G>A (p.Gly157Ser)
|
rs1734987233
|
|
NM_004168.4(SDHA):c.470G>T (p.Gly157Val)
|
|
|
NM_004168.4(SDHA):c.472A>G (p.Met158Val)
|
rs2126549328
|
|
NM_004168.4(SDHA):c.474G>A (p.Met158Ile)
|
|
|
NM_004168.4(SDHA):c.480T>G (p.Phe160Leu)
|
rs1060503711
|
|
NM_004168.4(SDHA):c.482G>A (p.Ser161Asn)
|
rs2126549411
|
|
NM_004168.4(SDHA):c.483C>G (p.Ser161Arg)
|
|
|
NM_004168.4(SDHA):c.484A>G (p.Arg162Gly)
|
rs1579385526
|
|
NM_004168.4(SDHA):c.485G>C (p.Arg162Thr)
|
rs1579385540
|
|
NM_004168.4(SDHA):c.488C>A (p.Thr163Asn)
|
rs375067326
|
|
NM_004168.4(SDHA):c.494A>G (p.Asp165Gly)
|
rs1734989377
|
|
NM_004168.4(SDHA):c.494A>T (p.Asp165Val)
|
|
|
NM_004168.4(SDHA):c.496G>A (p.Gly166Arg)
|
rs1060503712
|
|
NM_004168.4(SDHA):c.497G>A (p.Gly166Glu)
|
|
|
NM_004168.4(SDHA):c.498G>T (p.Gly166=)
|
rs1579385582
|
|
NM_004168.4(SDHA):c.49G>A (p.Ala17Thr)
|
|
|
NM_004168.4(SDHA):c.4T>C (p.Ser2Pro)
|
rs758327622
|
|
NM_004168.4(SDHA):c.4T>G (p.Ser2Ala)
|
rs758327622
|
|
NM_004168.4(SDHA):c.502A>G (p.Ile168Val)
|
rs1734989945
|
|
NM_004168.4(SDHA):c.503T>C (p.Ile168Thr)
|
rs1553997748
|
|
NM_004168.4(SDHA):c.505T>C (p.Tyr169His)
|
rs1553997754
|
|
NM_004168.4(SDHA):c.506A>G (p.Tyr169Cys)
|
|
|
NM_004168.4(SDHA):c.506A>T (p.Tyr169Phe)
|
|
|
NM_004168.4(SDHA):c.508C>A (p.Gln170Lys)
|
rs1579385645
|
|
NM_004168.4(SDHA):c.509A>G (p.Gln170Arg)
|
|
|
NM_004168.4(SDHA):c.509A>T (p.Gln170Leu)
|
rs2126549625
|
|
NM_004168.4(SDHA):c.50C>A (p.Ala17Glu)
|
|
|
NM_004168.4(SDHA):c.510G>C (p.Gln170His)
|
rs1579385651
|
|
NM_004168.4(SDHA):c.512G>C (p.Arg171Pro)
|
|
|
NM_004168.4(SDHA):c.514G>A (p.Ala172Thr)
|
rs1734991441
|
|
NM_004168.4(SDHA):c.515C>A (p.Ala172Glu)
|
|
|
NM_004168.4(SDHA):c.515C>T (p.Ala172Val)
|
rs1734991593
|
|
NM_004168.4(SDHA):c.523G>A (p.Gly175Arg)
|
rs753004001
|
|
NM_004168.4(SDHA):c.523G>C (p.Gly175Arg)
|
rs753004001
|
|
NM_004168.4(SDHA):c.528G>C (p.Gln176His)
|
rs769454045
|
|
NM_004168.4(SDHA):c.52C>G (p.Leu18Val)
|
rs1553996372
|
|
NM_004168.4(SDHA):c.530G>A (p.Ser177Asn)
|
rs1553997783
|
|
NM_004168.4(SDHA):c.530G>T (p.Ser177Ile)
|
|
|
NM_004168.4(SDHA):c.531C>G (p.Ser177Arg)
|
|
|
NM_004168.4(SDHA):c.536A>G (p.Lys179Arg)
|
|
|
NM_004168.4(SDHA):c.539T>C (p.Phe180Ser)
|
|
|
NM_004168.4(SDHA):c.53T>A (p.Leu18Gln)
|
|
|
NM_004168.4(SDHA):c.545A>G (p.Lys182Arg)
|
|
|
NM_004168.4(SDHA):c.548G>A (p.Gly183Asp)
|
rs1734993975
|
|
NM_004168.4(SDHA):c.551G>A (p.Gly184Glu)
|
rs1579385819
|
|
NM_004168.4(SDHA):c.551G>C (p.Gly184Ala)
|
rs1579385819
|
|
NM_004168.4(SDHA):c.553C>G (p.Gln185Glu)
|
rs775827529
|
|
NM_004168.4(SDHA):c.556G>T (p.Ala186Ser)
|
|
|
NM_004168.4(SDHA):c.557C>T (p.Ala186Val)
|
rs2126550013
|
|
NM_004168.4(SDHA):c.559C>T (p.His187Tyr)
|
rs1579385898
|
|
NM_004168.4(SDHA):c.55G>A (p.Ala19Thr)
|
rs1560980986
|
|
NM_004168.4(SDHA):c.565T>C (p.Cys189Arg)
|
rs1734996495
|
|
NM_004168.4(SDHA):c.568T>A (p.Cys190Ser)
|
rs908267345
|
|
NM_004168.4(SDHA):c.56C>G (p.Ala19Gly)
|
rs2126522773
|
|
NM_004168.4(SDHA):c.571T>C (p.Cys191Arg)
|
rs2126550176
|
|
NM_004168.4(SDHA):c.572G>C (p.Cys191Ser)
|
rs1393298155
|
|
NM_004168.4(SDHA):c.578C>G (p.Ala193Gly)
|
rs1734997662
|
|
NM_004168.4(SDHA):c.578C>T (p.Ala193Val)
|
rs1734997662
|
|
NM_004168.4(SDHA):c.580G>A (p.Asp194Asn)
|
|
|
NM_004168.4(SDHA):c.583C>G (p.Arg195Gly)
|
rs1337777456
|
|
NM_004168.4(SDHA):c.583C>T (p.Arg195Trp)
|
rs1337777456
|
|
NM_004168.4(SDHA):c.586A>G (p.Thr196Ala)
|
|
|
NM_004168.4(SDHA):c.587C>T (p.Thr196Ile)
|
rs1560987863
|
|
NM_004168.4(SDHA):c.589G>A (p.Gly197Ser)
|
rs1560987881
|
|
NM_004168.4(SDHA):c.589G>C (p.Gly197Arg)
|
rs1560987881
|
|
NM_004168.4(SDHA):c.58A>G (p.Lys20Glu)
|
rs1734504263
|
|
NM_004168.4(SDHA):c.590G>A (p.Gly197Asp)
|
rs1579386052
|
|
NM_004168.4(SDHA):c.596C>G (p.Ser199Trp)
|
|
|
NM_004168.4(SDHA):c.598C>A (p.Leu200Ile)
|
rs764307917
|
|
NM_004168.4(SDHA):c.602T>C (p.Leu201Ser)
|
rs150646390
|
|
NM_004168.4(SDHA):c.604C>G (p.His202Asp)
|
|
|
NM_004168.4(SDHA):c.608C>G (p.Thr203Ser)
|
rs1735001122
|
|
NM_004168.4(SDHA):c.608C>T (p.Thr203Ile)
|
rs1735001122
|
|
NM_004168.4(SDHA):c.60G>T (p.Lys20Asn)
|
|
|
NM_004168.4(SDHA):c.611T>C (p.Leu204Ser)
|
|
|
NM_004168.4(SDHA):c.614A>G (p.Tyr205Cys)
|
|
|
NM_004168.4(SDHA):c.619A>G (p.Arg207Gly)
|
rs6555055
|
|
NM_004168.4(SDHA):c.619A>T (p.Arg207Trp)
|
rs6555055
|
|
NM_004168.4(SDHA):c.619_620delinsCA (p.Arg207Gln)
|
rs2126550631
|
|
NM_004168.4(SDHA):c.61G>A (p.Ala21Thr)
|
rs1553996375
|
|
NM_004168.4(SDHA):c.620G>A (p.Arg207Lys)
|
rs780411478
|
|
NM_004168.4(SDHA):c.620G>C (p.Arg207Thr)
|
rs780411478
|
|
NM_004168.4(SDHA):c.621+3A>G
|
|
|
NM_004168.4(SDHA):c.621G>A (p.Arg207=)
|
rs2126550683
|
|
NM_004168.4(SDHA):c.622T>C (p.Ser208Pro)
|
|
|
NM_004168.4(SDHA):c.625C>G (p.Leu209Val)
|
|
|
NM_004168.4(SDHA):c.626T>C (p.Leu209Pro)
|
rs1579390858
|
|
NM_004168.4(SDHA):c.62C>A (p.Ala21Glu)
|
rs2126522821
|
|
NM_004168.4(SDHA):c.62C>T (p.Ala21Val)
|
rs2126522821
|
|
NM_004168.4(SDHA):c.63+3G>A
|
|
|
NM_004168.4(SDHA):c.63+3del
|
rs1734505446
|
|
NM_004168.4(SDHA):c.63+4A>G
|
|
|
NM_004168.4(SDHA):c.63+7C>A
|
|
|
NM_004168.4(SDHA):c.630A>G (p.Arg210=)
|
rs1579390913
|
|
NM_004168.4(SDHA):c.632A>T (p.Tyr211Phe)
|
rs1235961098
|
|
NM_004168.4(SDHA):c.634_636delinsACC (p.Asp212Thr)
|
|
|
NM_004168.4(SDHA):c.635A>G (p.Asp212Gly)
|
rs750531440
|
|
NM_004168.4(SDHA):c.637A>G (p.Thr213Ala)
|
|
|
NM_004168.4(SDHA):c.638C>A (p.Thr213Asn)
|
rs766421069
|
|
NM_004168.4(SDHA):c.638C>T (p.Thr213Ile)
|
rs766421069
|
|
NM_004168.4(SDHA):c.63G>A (p.Ala21=)
|
rs587781942
|
|
NM_004168.4(SDHA):c.64-16T>G
|
|
|
NM_004168.4(SDHA):c.64-7T>G
|
rs1579379588
|
|
NM_004168.4(SDHA):c.646T>C (p.Phe216Leu)
|
rs1735162987
|
|
NM_004168.4(SDHA):c.649G>C (p.Val217Leu)
|
rs1735163272
|
|
NM_004168.4(SDHA):c.64T>C (p.Trp22Arg)
|
rs2126539375
|
|
NM_004168.4(SDHA):c.653A>T (p.Glu218Val)
|
rs1735163544
|
|
NM_004168.4(SDHA):c.654G>T (p.Glu218Asp)
|
|
|
NM_004168.4(SDHA):c.656A>G (p.Tyr219Cys)
|
|
|
NM_004168.4(SDHA):c.662C>G (p.Ala221Gly)
|
rs1735163984
|
|
NM_004168.4(SDHA):c.664T>G (p.Leu222Val)
|
rs1553998191
|
|
NM_004168.4(SDHA):c.665T>C (p.Leu222Ser)
|
|
|
NM_004168.4(SDHA):c.667G>C (p.Asp223His)
|
rs1579391108
|
|
NM_004168.4(SDHA):c.667G>T (p.Asp223Tyr)
|
rs1579391108
|
|
NM_004168.4(SDHA):c.668A>C (p.Asp223Ala)
|
rs2126558436
|
|
NM_004168.4(SDHA):c.670C>T (p.Leu224Phe)
|
|
|
NM_004168.4(SDHA):c.674T>C (p.Leu225Pro)
|
rs2126558482
|
|
NM_004168.4(SDHA):c.676A>T (p.Met226Leu)
|
rs1579391135
|
|
NM_004168.4(SDHA):c.677T>A (p.Met226Lys)
|
|
|
NM_004168.4(SDHA):c.677T>C (p.Met226Thr)
|
rs1735165932
|
|
NM_004168.4(SDHA):c.678G>A (p.Met226Ile)
|
rs745884899
|
|
NM_004168.4(SDHA):c.681G>T (p.Glu227Asp)
|
|
|
NM_004168.4(SDHA):c.682A>T (p.Asn228Tyr)
|
rs2126558556
|
|
NM_004168.4(SDHA):c.683A>G (p.Asn228Ser)
|
rs2126558564
|
|
NM_004168.4(SDHA):c.684_685inv (p.Gly229Arg)
|
|
|
NM_004168.4(SDHA):c.688G>A (p.Glu230Lys)
|
|
|
NM_004168.4(SDHA):c.688G>C (p.Glu230Gln)
|
rs1436777353
|
|
NM_004168.4(SDHA):c.695G>A (p.Arg232His)
|
rs1060503708
|
|
NM_004168.4(SDHA):c.697G>A (p.Gly233Ser)
|
rs2126558729
|
|
NM_004168.4(SDHA):c.698G>A (p.Gly233Asp)
|
rs878854636
|
|
NM_004168.4(SDHA):c.698G>T (p.Gly233Val)
|
rs878854636
|
|
NM_004168.4(SDHA):c.700G>A (p.Val234Ile)
|
rs2126558764
|
|
NM_004168.4(SDHA):c.709C>G (p.Leu237Val)
|
|
|
NM_004168.4(SDHA):c.70A>G (p.Thr24Ala)
|
rs1579379632
|
|
NM_004168.4(SDHA):c.712T>G (p.Cys238Gly)
|
rs1579391373
|
|
NM_004168.4(SDHA):c.713G>C (p.Cys238Ser)
|
rs1168458733
|
|
NM_004168.4(SDHA):c.713G>T (p.Cys238Phe)
|
rs1168458733
|
|
NM_004168.4(SDHA):c.715A>C (p.Ile239Leu)
|
rs760106352
|
|
NM_004168.4(SDHA):c.715A>G (p.Ile239Val)
|
rs760106352
|
|
NM_004168.4(SDHA):c.716T>C (p.Ile239Thr)
|
rs1466069757
|
|
NM_004168.4(SDHA):c.716T>G (p.Ile239Arg)
|
|
|
NM_004168.4(SDHA):c.718G>A (p.Glu240Lys)
|
rs1041946
|
|
NM_004168.4(SDHA):c.719A>C (p.Glu240Ala)
|
|
|
NM_004168.4(SDHA):c.71C>G (p.Thr24Arg)
|
|
|
NM_004168.4(SDHA):c.720_722del (p.Glu240del)
|
rs1560990000
|
|
NM_004168.4(SDHA):c.727T>C (p.Ser243Pro)
|
|
|
NM_004168.4(SDHA):c.728C>G (p.Ser243Cys)
|
rs756966025
|
|
NM_004168.4(SDHA):c.728C>T (p.Ser243Phe)
|
rs756966025
|
|
NM_004168.4(SDHA):c.733C>G (p.His245Asp)
|
rs1060503716
|
|
NM_004168.4(SDHA):c.734A>G (p.His245Arg)
|
rs1579391515
|
|
NM_004168.4(SDHA):c.734A>T (p.His245Leu)
|
rs1579391515
|
|
NM_004168.4(SDHA):c.736C>T (p.Arg246Cys)
|
rs1579391530
|
|
NM_004168.4(SDHA):c.737G>A (p.Arg246His)
|
rs745309710
|
|
NM_004168.4(SDHA):c.737G>T (p.Arg246Leu)
|
rs745309710
|
|
NM_004168.4(SDHA):c.741A>G (p.Ile247Met)
|
rs1735177782
|
|
NM_004168.4(SDHA):c.743G>C (p.Arg248Thr)
|
|
|
NM_004168.4(SDHA):c.745G>A (p.Ala249Thr)
|
|
|
NM_004168.4(SDHA):c.748A>G (p.Lys250Glu)
|
rs1735177925
|
|
NM_004168.4(SDHA):c.749A>G (p.Lys250Arg)
|
rs1060503700
|
|
NM_004168.4(SDHA):c.74T>C (p.Val25Ala)
|
rs2126539437
|
|
NM_004168.4(SDHA):c.751A>G (p.Asn251Asp)
|
|
|
NM_004168.4(SDHA):c.752A>G (p.Asn251Ser)
|
|
|
NM_004168.4(SDHA):c.757G>A (p.Val253Ile)
|
rs1126412
|
|
NM_004168.4(SDHA):c.757G>C (p.Val253Leu)
|
|
|
NM_004168.4(SDHA):c.758TTG[1] (p.Val254del)
|
|
|
NM_004168.4(SDHA):c.763G>A (p.Ala255Thr)
|
rs1735179887
|
|
NM_004168.4(SDHA):c.766A>T (p.Thr256Ser)
|
rs1409070000
|
|
NM_004168.4(SDHA):c.767C>T (p.Thr256Ile)
|
rs2126559328
|
|
NM_004168.4(SDHA):c.769G>A (p.Gly257Arg)
|
|
|
NM_004168.4(SDHA):c.770+19_770+23del
|
rs372913930
|
|
NM_004168.4(SDHA):c.770+3A>G
|
|
|
NM_004168.4(SDHA):c.770G>A (p.Gly257Glu)
|
rs749566947
|
|
NM_004168.4(SDHA):c.770G>C (p.Gly257Ala)
|
rs749566947
|
|
NM_004168.4(SDHA):c.772G>T (p.Gly258Cys)
|
|
|
NM_004168.4(SDHA):c.779G>A (p.Gly260Glu)
|
|
|
NM_004168.4(SDHA):c.785C>T (p.Thr262Ile)
|
rs1579397115
|
|
NM_004168.4(SDHA):c.788A>G (p.Tyr263Cys)
|
rs2126567907
|
|
NM_004168.4(SDHA):c.791T>A (p.Phe264Tyr)
|
|
|
NM_004168.4(SDHA):c.791T>G (p.Phe264Cys)
|
rs2126567940
|
|
NM_004168.4(SDHA):c.793A>T (p.Ser265Cys)
|
rs2126567967
|
|
NM_004168.4(SDHA):c.796T>C (p.Cys266Arg)
|
rs1579397179
|
|
NM_004168.4(SDHA):c.79C>G (p.Gln27Glu)
|
rs1734829878
|
|
NM_004168.4(SDHA):c.7G>A (p.Gly3Arg)
|
|
|
NM_004168.4(SDHA):c.7G>C (p.Gly3Arg)
|
rs756415935
|
|
NM_004168.4(SDHA):c.7G>T (p.Gly3Trp)
|
rs756415935
|
|
NM_004168.4(SDHA):c.7_24dup (p.Ser8_Arg9insGlyValArgGlyLeuSer)
|
|
|
NM_004168.4(SDHA):c.805G>A (p.Ala269Thr)
|
rs1579397217
|
|
NM_004168.4(SDHA):c.809_814del (p.His270_Ser272delinsArg)
|
rs2126568112
|
|
NM_004168.4(SDHA):c.812C>T (p.Thr271Ile)
|
rs765611464
|
|
NM_004168.4(SDHA):c.817A>G (p.Thr273Ala)
|
rs1735357615
|
|
NM_004168.4(SDHA):c.823G>A (p.Asp275Asn)
|
rs1553998629
|
|
NM_004168.4(SDHA):c.828C>T (p.Gly276=)
|
rs754910183
|
|
NM_004168.4(SDHA):c.829A>G (p.Thr277Ala)
|
rs1553998638
|
|
NM_004168.4(SDHA):c.830C>A (p.Thr277Lys)
|
rs367721665
|
|
NM_004168.4(SDHA):c.830C>T (p.Thr277Met)
|
rs367721665
|
|
NM_004168.4(SDHA):c.835A>T (p.Met279Leu)
|
rs755913710
|
|
NM_004168.4(SDHA):c.836T>C (p.Met279Thr)
|
rs777595710
|
|
NM_004168.4(SDHA):c.837G>A (p.Met279Ile)
|
|
|
NM_004168.4(SDHA):c.837G>C (p.Met279Ile)
|
|
|
NM_004168.4(SDHA):c.837G>T (p.Met279Ile)
|
rs746145822
|
|
NM_004168.4(SDHA):c.839T>A (p.Ile280Asn)
|
rs2126568391
|
|
NM_004168.4(SDHA):c.83C>T (p.Thr28Ile)
|
rs1171584124
|
|
NM_004168.4(SDHA):c.840C>G (p.Ile280Met)
|
rs2126568400
|
|
NM_004168.4(SDHA):c.842C>A (p.Thr281Asn)
|
|
|
NM_004168.4(SDHA):c.842C>G (p.Thr281Ser)
|
|
|
NM_004168.4(SDHA):c.842C>T (p.Thr281Ile)
|
|
|
NM_004168.4(SDHA):c.844A>G (p.Arg282Gly)
|
rs1553998658
|
|
NM_004168.4(SDHA):c.845G>A (p.Arg282Lys)
|
|
|
NM_004168.4(SDHA):c.845G>C (p.Arg282Thr)
|
rs1735361111
|
|
NM_004168.4(SDHA):c.848C>T (p.Ala283Val)
|
|
|
NM_004168.4(SDHA):c.856C>T (p.Pro286Ser)
|
rs1579397496
|
|
NM_004168.4(SDHA):c.859T>A (p.Cys287Ser)
|
rs2126568567
|
|
NM_004168.4(SDHA):c.865G>A (p.Asp289Asn)
|
|
|
NM_004168.4(SDHA):c.865G>T (p.Asp289Tyr)
|
rs2126568625
|
|
NM_004168.4(SDHA):c.867C>G (p.Asp289Glu)
|
|
|
NM_004168.4(SDHA):c.871G>A (p.Glu291Lys)
|
rs1579397516
|
|
NM_004168.4(SDHA):c.872A>C (p.Glu291Ala)
|
|
|
NM_004168.4(SDHA):c.872A>G (p.Glu291Gly)
|
|
|
NM_004168.4(SDHA):c.872A>T (p.Glu291Val)
|
rs1336029027
|
|
NM_004168.4(SDHA):c.875T>G (p.Phe292Cys)
|
rs2126568674
|
|
NM_004168.4(SDHA):c.880C>A (p.Gln294Lys)
|
|
|
NM_004168.4(SDHA):c.882G>T (p.Gln294His)
|
rs371512265
|
|
NM_004168.4(SDHA):c.884T>A (p.Phe295Tyr)
|
rs1735363396
|
|
NM_004168.4(SDHA):c.886C>T (p.His296Tyr)
|
rs1579397566
|
|
NM_004168.4(SDHA):c.88A>G (p.Thr30Ala)
|
rs2126539529
|
|
NM_004168.4(SDHA):c.890_891delinsTC (p.Pro297Leu)
|
rs1579397592
|
|
NM_004168.4(SDHA):c.892A>G (p.Thr298Ala)
|
|
|
NM_004168.4(SDHA):c.895+4G>A
|
rs1735364791
|
|
NM_004168.4(SDHA):c.895+4G>C
|
|
|
NM_004168.4(SDHA):c.895G>A (p.Gly299Ser)
|
|
|
NM_004168.4(SDHA):c.896-10T>G
|
rs2126576716
|
|
NM_004168.4(SDHA):c.896-3C>T
|
rs1735543080
|
|
NM_004168.4(SDHA):c.896-5T>G
|
rs2126576742
|
|
NM_004168.4(SDHA):c.898A>C (p.Ile300Leu)
|
rs1448561231
|
|
NM_004168.4(SDHA):c.898A>G (p.Ile300Val)
|
|
|
NM_004168.4(SDHA):c.899T>C (p.Ile300Thr)
|
rs878854637
|
|
NM_004168.4(SDHA):c.89C>T (p.Thr30Ile)
|
rs1560985157
|
|
NM_004168.4(SDHA):c.8G>C (p.Gly3Ala)
|
rs1398198098
|
|
NM_004168.4(SDHA):c.900A>G (p.Ile300Met)
|
rs1735543603
|
|
NM_004168.4(SDHA):c.905G>A (p.Gly302Asp)
|
rs1735544082
|
|
NM_004168.4(SDHA):c.907G>T (p.Ala303Ser)
|
rs2126576840
|
|
NM_004168.4(SDHA):c.914G>T (p.Cys305Phe)
|
rs878854638
|
|
NM_004168.4(SDHA):c.916C>G (p.Leu306Val)
|
rs1735544893
|
|
NM_004168.4(SDHA):c.917T>C (p.Leu306Pro)
|
rs1477142607
|
|
NM_004168.4(SDHA):c.920T>C (p.Ile307Thr)
|
|
|
NM_004168.4(SDHA):c.922A>G (p.Thr308Ala)
|
|
|
NM_004168.4(SDHA):c.923C>A (p.Thr308Lys)
|
|
|
NM_004168.4(SDHA):c.924G>A (p.Thr308=)
|
rs1355760590
|
|
NM_004168.4(SDHA):c.926A>G (p.Glu309Gly)
|
rs1735547863
|
|
NM_004168.4(SDHA):c.928G>A (p.Gly310Arg)
|
|
|
NM_004168.4(SDHA):c.928G>C (p.Gly310Arg)
|
|
|
NM_004168.4(SDHA):c.934C>T (p.Arg312Cys)
|
rs1735549033
|
|
NM_004168.4(SDHA):c.934_936del (p.Arg312del)
|
rs1735548711
|
|
NM_004168.4(SDHA):c.935G>A (p.Arg312His)
|
rs876660932
|
|
NM_004168.4(SDHA):c.935G>C (p.Arg312Pro)
|
rs876660932
|
|
NM_004168.4(SDHA):c.935G>T (p.Arg312Leu)
|
rs876660932
|
|
NM_004168.4(SDHA):c.940G>A (p.Glu314Lys)
|
rs1337704280
|
|
NM_004168.4(SDHA):c.941A>C (p.Glu314Ala)
|
rs1735550179
|
|
NM_004168.4(SDHA):c.941A>G (p.Glu314Gly)
|
rs1735550179
|
|
NM_004168.4(SDHA):c.944G>A (p.Gly315Glu)
|
rs1579402194
|
|
NM_004168.4(SDHA):c.946G>A (p.Gly316Ser)
|
|
|
NM_004168.4(SDHA):c.949A>G (p.Ile317Val)
|
|
|
NM_004168.4(SDHA):c.94G>C (p.Gly32Arg)
|
rs1734831542
|
|
NM_004168.4(SDHA):c.950T>C (p.Ile317Thr)
|
rs903136919
|
|
NM_004168.4(SDHA):c.952C>T (p.Leu318Phe)
|
rs1735551482
|
|
NM_004168.4(SDHA):c.955A>G (p.Ile319Val)
|
rs377509915
|
|
NM_004168.4(SDHA):c.959A>G (p.Asn320Ser)
|
rs765092091
|
|
NM_004168.4(SDHA):c.965A>C (p.Gln322Pro)
|
rs1553998989
|
|
NM_004168.4(SDHA):c.967G>A (p.Gly323Ser)
|
rs1553998991
|
|
NM_004168.4(SDHA):c.974G>T (p.Arg325Met)
|
rs1735554223
|
|
NM_004168.4(SDHA):c.976T>C (p.Phe326Leu)
|
|
|
NM_004168.4(SDHA):c.977T>A (p.Phe326Tyr)
|
rs1735554652
|
|
NM_004168.4(SDHA):c.979A>G (p.Met327Val)
|
rs1285443776
|
|
NM_004168.4(SDHA):c.97T>C (p.Phe33Leu)
|
|
|
NM_004168.4(SDHA):c.980T>C (p.Met327Thr)
|
rs2126577482
|
|
NM_004168.4(SDHA):c.982G>C (p.Glu328Gln)
|
rs778297896
|
|
NM_004168.4(SDHA):c.985C>G (p.Arg329Gly)
|
rs771328239
|
|
NM_004168.4(SDHA):c.986G>C (p.Arg329Pro)
|
|
|
NM_004168.4(SDHA):c.988T>A (p.Tyr330Asn)
|
|
|
NM_004168.4(SDHA):c.98T>C (p.Phe33Ser)
|
rs1734831975
|
|
NM_004168.4(SDHA):c.991G>T (p.Ala331Ser)
|
rs200526913
|
|
NM_004168.4(SDHA):c.991_992delinsAA (p.Ala331Asn)
|
|
|
NM_004168.4(SDHA):c.992C>G (p.Ala331Gly)
|
rs1206201147
|
|
NM_004168.4(SDHA):c.992C>T (p.Ala331Val)
|
rs1206201147
|
|
NM_004168.4(SDHA):c.994C>T (p.Pro332Ser)
|
rs373509391
|
|
NM_004168.4(SDHA):c.996_997inv (p.Val333Ile)
|
|
|
NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr)
|
rs1057517540
|
|
NM_004168.4(SDHA):c.997G>C (p.Val333Leu)
|
rs1062468
|
|
NM_004304.5(ALK):c.1517T>C (p.Leu506Pro)
|
rs762569153
|
|
NM_004304.5(ALK):c.164C>A (p.Ala55Glu)
|
rs1217013970
|
|
NM_004716.4(PCSK7):c.1634A>C (p.Lys545Thr)
|
rs771986131
|
|
NM_005896.4(IDH1):c.976T>C (p.Ser326Pro)
|
rs185564694
|
|
NM_005981.5(TSPAN31):c.*2156T>A
|
rs1446831422
|
|
NM_006087.4(TUBB4A):c.571C>T (p.Gln191Ter)
|
rs1376427129
|
|
NM_006618.5(KDM5B):c.1536C>G (p.His512Gln)
|
|
|
NM_016169.3(SUFU):c.-189C>T
|
rs1589969363
|
|
NM_016169.3(SUFU):c.-202C>T
|
rs1222242003
|
|
NM_016169.4(SUFU):c.*1104C>T
|
rs886046657
|
|
NM_016169.4(SUFU):c.*131C>G
|
rs886046654
|
|
NM_016169.4(SUFU):c.*1389C>T
|
rs886046658
|
|
NM_016169.4(SUFU):c.*138C>T
|
rs2063826618
|
|
NM_016169.4(SUFU):c.*1690A>G
|
rs955282121
|
|
NM_016169.4(SUFU):c.*1720C>G
|
rs536068954
|
|
NM_016169.4(SUFU):c.*1785C>T
|
rs1047091410
|
|
NM_016169.4(SUFU):c.*1889C>T
|
rs139020703
|
|
NM_016169.4(SUFU):c.*2479C>T
|
rs2063847339
|
|
NM_016169.4(SUFU):c.*2553T>C
|
rs886046662
|
|
NM_016169.4(SUFU):c.*2657T>C
|
rs2063848688
|
|
NM_016169.4(SUFU):c.*2757G>A
|
rs758662176
|
|
NM_016169.4(SUFU):c.*3110C>T
|
rs141940845
|
|
NM_016169.4(SUFU):c.*3239C>G
|
rs538132960
|
|
NM_016169.4(SUFU):c.*3239_*3241del
|
rs767259911
|
|
NM_016169.4(SUFU):c.*352C>G
|
rs139725961
|
|
NM_016169.4(SUFU):c.-103C>A
|
rs886046653
|
|
NM_016169.4(SUFU):c.-163A>G
|
rs886046652
|
|
NM_016169.4(SUFU):c.-181A>G
|
rs867202826
|
|
NM_016169.4(SUFU):c.-81C>A
|
rs546107381
|
|
NM_016169.4(SUFU):c.-81C>T
|
rs546107381
|
|
NM_016169.4(SUFU):c.1001G>C (p.Gly334Ala)
|
|
|
NM_016169.4(SUFU):c.1004T>C (p.Leu335Pro)
|
rs2063496437
|
|
NM_016169.4(SUFU):c.1009C>T (p.His337Tyr)
|
|
|
NM_016169.4(SUFU):c.1012G>A (p.Asp338Asn)
|
rs145082320
|
|
NM_016169.4(SUFU):c.1012G>C (p.Asp338His)
|
|
|
NM_016169.4(SUFU):c.1012G>T (p.Asp338Tyr)
|
rs145082320
|
|
NM_016169.4(SUFU):c.1016G>C (p.Arg339Pro)
|
rs369910221
|
|
NM_016169.4(SUFU):c.1018G>A (p.Ala340Thr)
|
|
|
NM_016169.4(SUFU):c.1021C>G (p.Pro341Ala)
|
rs2063496822
|
|
NM_016169.4(SUFU):c.1022C>G (p.Pro341Arg)
|
|
|
NM_016169.4(SUFU):c.1025G>T (p.Ser342Ile)
|
|
|
NM_016169.4(SUFU):c.1026C>A (p.Ser342Arg)
|
|
|
NM_016169.4(SUFU):c.1028G>C (p.Arg343Pro)
|
|
|
NM_016169.4(SUFU):c.1028G>T (p.Arg343Leu)
|
rs79299301
|
|
NM_016169.4(SUFU):c.1031A>G (p.Lys344Arg)
|
|
|
NM_016169.4(SUFU):c.1034A>G (p.Asp345Gly)
|
rs1590082122
|
|
NM_016169.4(SUFU):c.1037G>T (p.Ser346Ile)
|
|
|
NM_016169.4(SUFU):c.103C>T (p.His35Tyr)
|
|
|
NM_016169.4(SUFU):c.1042G>A (p.Glu348Lys)
|
rs1447671524
|
|
NM_016169.4(SUFU):c.1046G>C (p.Ser349Thr)
|
rs1419645738
|
|
NM_016169.4(SUFU):c.1048G>A (p.Asp350Asn)
|
|
|
NM_016169.4(SUFU):c.104A>G (p.His35Arg)
|
rs2062292023
|
|
NM_016169.4(SUFU):c.1055C>G (p.Ser352Cys)
|
|
|
NM_016169.4(SUFU):c.1057A>T (p.Thr353Ser)
|
rs1043574191
|
|
NM_016169.4(SUFU):c.1060G>A (p.Ala354Thr)
|
rs1554854570
|
|
NM_016169.4(SUFU):c.1061C>G (p.Ala354Gly)
|
rs1554854572
|
|
NM_016169.4(SUFU):c.1063A>G (p.Ile355Val)
|
rs1564706425
|
|
NM_016169.4(SUFU):c.1063A>T (p.Ile355Phe)
|
rs1564706425
|
|
NM_016169.4(SUFU):c.1068T>G (p.Ile356Met)
|
rs2063673886
|
|
NM_016169.4(SUFU):c.1069C>T (p.Pro357Ser)
|
|
|
NM_016169.4(SUFU):c.106G>A (p.Ala36Thr)
|
|
|
NM_016169.4(SUFU):c.1070_1084del (p.Pro357_Ile361del)
|
|
|
NM_016169.4(SUFU):c.1073A>C (p.His358Pro)
|
|
|
NM_016169.4(SUFU):c.1079T>G (p.Leu360Arg)
|
|
|
NM_016169.4(SUFU):c.1083T>G (p.Ile361Met)
|
rs1590082200
|
|
NM_016169.4(SUFU):c.1085G>T (p.Arg362Leu)
|
rs755390277
|
|
NM_016169.4(SUFU):c.1087A>G (p.Thr363Ala)
|
rs2135930147
|
|
NM_016169.4(SUFU):c.1090C>T (p.Arg364Trp)
|
rs1305395503
|
|
NM_016169.4(SUFU):c.1094A>C (p.Gln365Pro)
|
|
|
NM_016169.4(SUFU):c.1097T>C (p.Leu366Pro)
|
rs2063674539
|
|
NM_016169.4(SUFU):c.1104C>G (p.Ser368Arg)
|
rs746580970
|
|
NM_016169.4(SUFU):c.1105G>C (p.Val369Leu)
|
rs149449923
|
|
NM_016169.4(SUFU):c.1106T>C (p.Val369Ala)
|
rs1554854584
|
|
NM_016169.4(SUFU):c.1120A>G (p.Asn374Asp)
|
rs2063674917
|
|
NM_016169.4(SUFU):c.1121A>C (p.Asn374Thr)
|
rs1265012285
|
|
NM_016169.4(SUFU):c.1124A>G (p.Gln375Arg)
|
|
|
NM_016169.4(SUFU):c.1127A>T (p.Glu376Val)
|
|
|
NM_016169.4(SUFU):c.1132G>A (p.Gly378Arg)
|
rs1256959985
|
|
NM_016169.4(SUFU):c.1133G>C (p.Gly378Ala)
|
|
|
NM_016169.4(SUFU):c.1135G>C (p.Ala379Pro)
|
|
|
NM_016169.4(SUFU):c.1139T>A (p.Leu380His)
|
rs2063675268
|
|
NM_016169.4(SUFU):c.113A>G (p.Tyr38Cys)
|
rs2062292284
|
|
NM_016169.4(SUFU):c.1141A>G (p.Ile381Val)
|
|
|
NM_016169.4(SUFU):c.1142T>C (p.Ile381Thr)
|
rs2135930458
|
|
NM_016169.4(SUFU):c.1145C>G (p.Pro382Arg)
|
|
|
NM_016169.4(SUFU):c.1145C>T (p.Pro382Leu)
|
rs1401882800
|
|
NM_016169.4(SUFU):c.1147C>T (p.Leu383Phe)
|
|
|
NM_016169.4(SUFU):c.1150T>C (p.Cys384Arg)
|
rs375419295
|
|
NM_016169.4(SUFU):c.1157G>C (p.Arg386Thr)
|
|
|
NM_016169.4(SUFU):c.1158-3C>T
|
rs936830108
|
|
NM_016169.4(SUFU):c.1159G>A (p.Gly387Ser)
|
|
|
NM_016169.4(SUFU):c.1160G>A (p.Gly387Asp)
|
|
|
NM_016169.4(SUFU):c.116G>T (p.Gly39Val)
|
rs756123785
|
|
NM_016169.4(SUFU):c.1171C>T (p.His391Tyr)
|
|
|
NM_016169.4(SUFU):c.1172A>G (p.His391Arg)
|
rs2063696863
|
|
NM_016169.4(SUFU):c.1174G>C (p.Gly392Arg)
|
rs2063696912
|
|
NM_016169.4(SUFU):c.1174_1175dup (p.Arg393fs)
|
rs1564707343
|
|
NM_016169.4(SUFU):c.1178G>A (p.Arg393Gln)
|
|
|
NM_016169.4(SUFU):c.1180C>G (p.His394Asp)
|
|
|
NM_016169.4(SUFU):c.1183T>G (p.Phe395Val)
|
|
|
NM_016169.4(SUFU):c.1196G>A (p.Ser399Asn)
|
rs1421345157
|
|
NM_016169.4(SUFU):c.1196G>C (p.Ser399Thr)
|
rs1421345157
|
|
NM_016169.4(SUFU):c.119A>G (p.Glu40Gly)
|
|
|
NM_016169.4(SUFU):c.11T>G (p.Leu4Arg)
|
|
|
NM_016169.4(SUFU):c.1202C>T (p.Thr401Ile)
|
rs776868943
|
|
NM_016169.4(SUFU):c.1205G>A (p.Gly402Asp)
|
rs2063697237
|
|
NM_016169.4(SUFU):c.1210A>G (p.Met404Val)
|
rs1312190379
|
|
NM_016169.4(SUFU):c.1211T>A (p.Met404Lys)
|
rs2063697367
|
|
NM_016169.4(SUFU):c.1211T>C (p.Met404Thr)
|
|
|
NM_016169.4(SUFU):c.1214C>T (p.Ala405Val)
|
|
|
NM_016169.4(SUFU):c.1216A>G (p.Ile406Val)
|
rs1060501116
|
|
NM_016169.4(SUFU):c.1220C>T (p.Thr407Met)
|
|
|
NM_016169.4(SUFU):c.1229C>G (p.Ser410Cys)
|
|
|
NM_016169.4(SUFU):c.1231A>G (p.Thr411Ala)
|
|
|
NM_016169.4(SUFU):c.1233G>A (p.Thr411=)
|
|
|
NM_016169.4(SUFU):c.1235G>A (p.Gly412Glu)
|
rs1590084228
|
|
NM_016169.4(SUFU):c.1244G>A (p.Gly415Asp)
|
rs2135935261
|
|
NM_016169.4(SUFU):c.1246G>A (p.Ala416Thr)
|
rs779490664
|
|
NM_016169.4(SUFU):c.1246G>T (p.Ala416Ser)
|
rs779490664
|
|
NM_016169.4(SUFU):c.1247C>A (p.Ala416Asp)
|
rs2063698018
|
|
NM_016169.4(SUFU):c.1252G>C (p.Ala418Pro)
|
rs2063698088
|
|
NM_016169.4(SUFU):c.1252G>T (p.Ala418Ser)
|
|
|
NM_016169.4(SUFU):c.1263_1264delinsTT (p.Glu421_His422delinsAspTyr)
|
|
|
NM_016169.4(SUFU):c.1268C>G (p.Pro423Arg)
|
rs1590084270
|
|
NM_016169.4(SUFU):c.1268C>T (p.Pro423Leu)
|
|
|
NM_016169.4(SUFU):c.1274C>T (p.Ala425Val)
|
rs1427876079
|
|
NM_016169.4(SUFU):c.1276G>A (p.Ala426Thr)
|
rs1189930416
|
|
NM_016169.4(SUFU):c.1277C>T (p.Ala426Val)
|
rs772895878
|
|
NM_016169.4(SUFU):c.1291T>G (p.Leu431Val)
|
rs141950577
|
|
NM_016169.4(SUFU):c.1295A>C (p.Gln432Pro)
|
|
|
NM_016169.4(SUFU):c.1296+10C>T
|
|
|
NM_016169.4(SUFU):c.1296+3G>A
|
rs2135935586
|
|
NM_016169.4(SUFU):c.1296+4_1296+459del
|
rs2063698594
|
|
NM_016169.4(SUFU):c.1296+5G>A
|
|
|
NM_016169.4(SUFU):c.130C>T (p.Leu44Phe)
|
|
|
NM_016169.4(SUFU):c.1312del (p.Glu438fs)
|
rs2135954200
|
|
NM_016169.4(SUFU):c.1314G>C (p.Glu438Asp)
|
|
|
NM_016169.4(SUFU):c.1316T>C (p.Phe439Ser)
|
rs778975698
|
|
NM_016169.4(SUFU):c.1318G>A (p.Val440Ile)
|
|
|
NM_016169.4(SUFU):c.1319T>C (p.Val440Ala)
|
rs2135954241
|
|
NM_016169.4(SUFU):c.1322A>T (p.Glu441Val)
|
rs2063793808
|
|
NM_016169.4(SUFU):c.1329G>T (p.Met443Ile)
|
rs773805575
|
|
NM_016169.4(SUFU):c.1332G>C (p.Leu444Phe)
|
rs2135954289
|
|
NM_016169.4(SUFU):c.1336G>A (p.Asp446Asn)
|
rs2135954318
|
|
NM_016169.4(SUFU):c.1339T>G (p.Leu447Val)
|
rs2135954327
|
|
NM_016169.4(SUFU):c.1342G>A (p.Glu448Lys)
|
rs2135954335
|
|
NM_016169.4(SUFU):c.1347T>G (p.Asp449Glu)
|
rs1564711403
|
|
NM_016169.4(SUFU):c.134A>T (p.Tyr45Phe)
|
rs774611157
|
|
NM_016169.4(SUFU):c.1350G>C (p.Leu450Phe)
|
rs2135954349
|
|
NM_016169.4(SUFU):c.1351A>G (p.Thr451Ala)
|
|
|
NM_016169.4(SUFU):c.1355C>A (p.Ser452Tyr)
|
rs2135954353
|
|
NM_016169.4(SUFU):c.1360G>C (p.Glu454Gln)
|
|
|
NM_016169.4(SUFU):c.1365+18_1365+19delinsCC
|
|
|
NM_016169.4(SUFU):c.1365+6C>T
|
|
|
NM_016169.4(SUFU):c.136C>A (p.Pro46Thr)
|
|
|
NM_016169.4(SUFU):c.136C>T (p.Pro46Ser)
|
|
|
NM_016169.4(SUFU):c.1370A>G (p.Lys457Arg)
|
rs947720538
|
|
NM_016169.4(SUFU):c.1372C>A (p.Leu458Ile)
|
|
|
NM_016169.4(SUFU):c.1372C>T (p.Leu458Phe)
|
|
|
NM_016169.4(SUFU):c.1375C>T (p.Pro459Ser)
|
rs2063824067
|
|
NM_016169.4(SUFU):c.137C>G (p.Pro46Arg)
|
|
|
NM_016169.4(SUFU):c.137C>T (p.Pro46Leu)
|
rs2135598488
|
|
NM_016169.4(SUFU):c.1387A>G (p.Ser463Gly)
|
|
|
NM_016169.4(SUFU):c.139G>A (p.Asp47Asn)
|
rs2062292973
|
|
NM_016169.4(SUFU):c.1415C>T (p.Ser472Phe)
|
rs1590094982
|
|
NM_016169.4(SUFU):c.1429G>T (p.Val477Leu)
|
|
|
NM_016169.4(SUFU):c.1438G>A (p.Asp480Asn)
|
rs1318484622
|
|
NM_016169.4(SUFU):c.1442_1451del (p.Ser481fs)
|
rs1324912821
|
|
NM_016169.4(SUFU):c.1444C>T (p.Pro482Ser)
|
|
|
NM_016169.4(SUFU):c.1445C>G (p.Pro482Arg)
|
rs765358771
|
|
NM_016169.4(SUFU):c.1448T>C (p.Leu483Pro)
|
rs1060501115
|
|
NM_016169.4(SUFU):c.144G>T (p.Gln48His)
|
|
|
NM_016169.4(SUFU):c.1450C>T (p.His484Tyr)
|
rs2135959641
|
|
NM_016169.4(SUFU):c.1450_*18del (p.His484_Ter485del)
|
rs2063824850
|
|
NM_016169.4(SUFU):c.1453T>G (p.Ter485Glu)
|
|
|
NM_016169.4(SUFU):c.145C>G (p.Pro49Ala)
|
|
|
NM_016169.4(SUFU):c.151C>T (p.Pro51Ser)
|
rs2062293449
|
|
NM_016169.4(SUFU):c.154_155delinsAC (p.Leu52Thr)
|
rs2135598653
|
|
NM_016169.4(SUFU):c.155T>A (p.Leu52His)
|
rs2135598661
|
|
NM_016169.4(SUFU):c.158A>G (p.Gln53Arg)
|
rs1589970174
|
|
NM_016169.4(SUFU):c.160G>A (p.Val54Ile)
|
rs2135598727
|
|
NM_016169.4(SUFU):c.16C>T (p.Pro6Ser)
|
rs2062288467
|
|
NM_016169.4(SUFU):c.171C>G (p.Ile57Met)
|
rs1283661186
|
|
NM_016169.4(SUFU):c.172G>A (p.Val58Ile)
|
|
|
NM_016169.4(SUFU):c.172G>C (p.Val58Leu)
|
rs766897671
|
|
NM_016169.4(SUFU):c.173T>A (p.Val58Asp)
|
rs2135598841
|
|
NM_016169.4(SUFU):c.179A>C (p.Tyr60Ser)
|
|
|
NM_016169.4(SUFU):c.17C>G (p.Pro6Arg)
|
rs2135597134
|
|
NM_016169.4(SUFU):c.182+3A>G
|
rs1589970228
|
|
NM_016169.4(SUFU):c.182+4T>C
|
rs1268149623
|
|
NM_016169.4(SUFU):c.182+6C>T
|
rs889720087
|
|
NM_016169.4(SUFU):c.19A>G (p.Ser7Gly)
|
rs2062288510
|
|
NM_016169.4(SUFU):c.200C>G (p.Pro67Arg)
|
rs1564656995
|
|
NM_016169.4(SUFU):c.202T>G (p.Leu68Val)
|
rs1589975244
|
|
NM_016169.4(SUFU):c.209A>G (p.Tyr70Cys)
|
|
|
NM_016169.4(SUFU):c.215G>A (p.Ser72Asn)
|
rs1589975269
|
|
NM_016169.4(SUFU):c.217A>T (p.Met73Leu)
|
rs1183694060
|
|
NM_016169.4(SUFU):c.21C>A (p.Ser7Arg)
|
rs2135597167
|
|
NM_016169.4(SUFU):c.21C>G (p.Ser7Arg)
|
|
|
NM_016169.4(SUFU):c.227A>C (p.Asn76Thr)
|
|
|
NM_016169.4(SUFU):c.229G>A (p.Val77Met)
|
|
|
NM_016169.4(SUFU):c.22G>T (p.Gly8Cys)
|
rs769696737
|
|
NM_016169.4(SUFU):c.230T>C (p.Val77Ala)
|
|
|
NM_016169.4(SUFU):c.233G>A (p.Gly78Glu)
|
rs2062368710
|
|
NM_016169.4(SUFU):c.236G>C (p.Ser79Thr)
|
rs2135620312
|
|
NM_016169.4(SUFU):c.238C>A (p.Pro80Thr)
|
|
|
NM_016169.4(SUFU):c.242C>A (p.Ser81Tyr)
|
|
|
NM_016169.4(SUFU):c.242C>G (p.Ser81Cys)
|
rs2062368817
|
|
NM_016169.4(SUFU):c.245C>T (p.Ala82Val)
|
|
|
NM_016169.4(SUFU):c.247A>C (p.Asn83His)
|
rs2135620366
|
|
NM_016169.4(SUFU):c.247A>G (p.Asn83Asp)
|
rs2135620366
|
|
NM_016169.4(SUFU):c.253C>G (p.Pro85Ala)
|
rs1187640052
|
|
NM_016169.4(SUFU):c.253C>T (p.Pro85Ser)
|
rs1187640052
|
|
NM_016169.4(SUFU):c.254C>T (p.Pro85Leu)
|
|
|
NM_016169.4(SUFU):c.271A>G (p.Ile91Val)
|
rs759030707
|
|
NM_016169.4(SUFU):c.272T>A (p.Ile91Asn)
|
rs781318691
|
|
NM_016169.4(SUFU):c.273C>G (p.Ile91Met)
|
rs2062369595
|
|
NM_016169.4(SUFU):c.274A>G (p.Ser92Gly)
|
rs2062369652
|
|
NM_016169.4(SUFU):c.276C>G (p.Ser92Arg)
|
rs1060501106
|
|
NM_016169.4(SUFU):c.279C>A (p.Phe93Leu)
|
rs770218907
|
|
NM_016169.4(SUFU):c.280G>A (p.Gly94Ser)
|
|
|
NM_016169.4(SUFU):c.287G>C (p.Ser96Thr)
|
rs2135620752
|
|
NM_016169.4(SUFU):c.28C>G (p.Pro10Ala)
|
|
|
NM_016169.4(SUFU):c.28C>T (p.Pro10Ser)
|
rs975936230
|
|
NM_016169.4(SUFU):c.295T>C (p.Tyr99His)
|
rs2062370032
|
|
NM_016169.4(SUFU):c.305A>G (p.Asn102Ser)
|
rs146181245
|
|
NM_016169.4(SUFU):c.306C>G (p.Asn102Lys)
|
|
|
NM_016169.4(SUFU):c.316G>C (p.Glu106Gln)
|
rs1040654062
|
|
NM_016169.4(SUFU):c.317+5G>T
|
rs2062370553
|
|
NM_016169.4(SUFU):c.317A>G (p.Glu106Gly)
|
|
|
NM_016169.4(SUFU):c.318-3C>T
|
|
|
NM_016169.4(SUFU):c.31G>A (p.Gly11Ser)
|
|
|
NM_016169.4(SUFU):c.320T>G (p.Phe107Cys)
|
|
|
NM_016169.4(SUFU):c.32G>A (p.Gly11Asp)
|
rs1227379293
|
|
NM_016169.4(SUFU):c.331G>C (p.Asp111His)
|
rs1590018865
|
|
NM_016169.4(SUFU):c.333T>G (p.Asp111Glu)
|
rs2062895698
|
|
NM_016169.4(SUFU):c.334G>A (p.Gly112Arg)
|
|
|
NM_016169.4(SUFU):c.341G>A (p.Ser114Asn)
|
rs781192849
|
|
NM_016169.4(SUFU):c.347T>G (p.Phe116Cys)
|
|
|
NM_016169.4(SUFU):c.34C>T (p.Pro12Ser)
|
|
|
NM_016169.4(SUFU):c.350G>C (p.Gly117Ala)
|
rs1564676348
|
|
NM_016169.4(SUFU):c.352T>C (p.Phe118Leu)
|
rs2062895967
|
|
NM_016169.4(SUFU):c.358T>G (p.Leu120Val)
|
rs1415947980
|
|
NM_016169.4(SUFU):c.366T>G (p.Phe122Leu)
|
rs1216193400
|
|
NM_016169.4(SUFU):c.375G>T (p.Lys125Asn)
|
|
|
NM_016169.4(SUFU):c.379G>A (p.Glu127Lys)
|
rs1280071055
|
|
NM_016169.4(SUFU):c.383C>A (p.Thr128Asn)
|
|
|
NM_016169.4(SUFU):c.385G>A (p.Gly129Arg)
|
|
|
NM_016169.4(SUFU):c.388G>C (p.Glu130Gln)
|
|
|
NM_016169.4(SUFU):c.397C>T (p.Pro133Ser)
|
rs2135743325
|
|
NM_016169.4(SUFU):c.398C>T (p.Pro133Leu)
|
|
|
NM_016169.4(SUFU):c.406T>C (p.Trp136Arg)
|
|
|
NM_016169.4(SUFU):c.409C>T (p.Pro137Ser)
|
rs1564676427
|
|
NM_016169.4(SUFU):c.413C>T (p.Ala138Val)
|
|
|
NM_016169.4(SUFU):c.420A>T (p.Leu140Phe)
|
rs1060501111
|
|
NM_016169.4(SUFU):c.425A>G (p.Gln142Arg)
|
rs2135743469
|
|
NM_016169.4(SUFU):c.429C>T (p.Gly143=)
|
rs2062896951
|
|
NM_016169.4(SUFU):c.42_65del (p.10PGPTAPPA[1])
|
rs2062289607
|
|
NM_016169.4(SUFU):c.430T>G (p.Leu144Val)
|
rs2135743501
|
|
NM_016169.4(SUFU):c.43C>G (p.Pro15Ala)
|
rs761921681
|
|
NM_016169.4(SUFU):c.442G>A (p.Val148Met)
|
rs763813479
|
|
NM_016169.4(SUFU):c.442G>T (p.Val148Leu)
|
rs763813479
|
|
NM_016169.4(SUFU):c.450G>C (p.Gln150His)
|
|
|
NM_016169.4(SUFU):c.454+4_454+5del
|
|
|
NM_016169.4(SUFU):c.454+6A>T
|
rs2062897274
|
|
NM_016169.4(SUFU):c.454+6_454+8del
|
rs2135743623
|
|
NM_016169.4(SUFU):c.455-10T>A
|
|
|
NM_016169.4(SUFU):c.460A>G (p.Thr154Ala)
|
|
|
NM_016169.4(SUFU):c.460A>T (p.Thr154Ser)
|
|
|
NM_016169.4(SUFU):c.464T>G (p.Phe155Cys)
|
rs2063414949
|
|
NM_016169.4(SUFU):c.466T>C (p.Cys156Arg)
|
rs1554852266
|
|
NM_016169.4(SUFU):c.469A>G (p.Ser157Gly)
|
rs2063415039
|
|
NM_016169.4(SUFU):c.469A>T (p.Ser157Cys)
|
|
|
NM_016169.4(SUFU):c.46C>A (p.Pro16Thr)
|
rs978312925
|
|
NM_016169.4(SUFU):c.46C>G (p.Pro16Ala)
|
|
|
NM_016169.4(SUFU):c.479A>G (p.His160Arg)
|
|
|
NM_016169.4(SUFU):c.47C>T (p.Pro16Leu)
|
|
|
NM_016169.4(SUFU):c.490C>T (p.His164Tyr)
|
rs2063415325
|
|
NM_016169.4(SUFU):c.494G>C (p.Ser165Thr)
|
|
|
NM_016169.4(SUFU):c.509G>C (p.Ser170Thr)
|
|
|
NM_016169.4(SUFU):c.518G>T (p.Arg173Ile)
|
rs587778697
|
|
NM_016169.4(SUFU):c.521T>A (p.Ile174Asn)
|
rs2063415661
|
|
NM_016169.4(SUFU):c.521T>C (p.Ile174Thr)
|
rs2063415661
|
|
NM_016169.4(SUFU):c.52C>A (p.Pro18Thr)
|
|
|
NM_016169.4(SUFU):c.52_75del (p.10_17PGPTAPPA[1])
|
rs1426839991
|
|
NM_016169.4(SUFU):c.531G>C (p.Met177Ile)
|
|
|
NM_016169.4(SUFU):c.53C>T (p.Pro18Leu)
|
|
|
NM_016169.4(SUFU):c.541G>A (p.Glu181Lys)
|
|
|
NM_016169.4(SUFU):c.544G>A (p.Asp182Asn)
|
rs2135867046
|
|
NM_016169.4(SUFU):c.550C>G (p.Gln184Glu)
|
rs2063416132
|
|
NM_016169.4(SUFU):c.551A>C (p.Gln184Pro)
|
rs2063416174
|
|
NM_016169.4(SUFU):c.553A>T (p.Met185Leu)
|
|
|
NM_016169.4(SUFU):c.55_69dup (p.Pro23_Pro24insGlyProThrAlaPro)
|
|
|
NM_016169.4(SUFU):c.563T>C (p.Val188Ala)
|
rs2063416415
|
|
NM_016169.4(SUFU):c.56G>A (p.Gly19Asp)
|
rs1589969913
|
|
NM_016169.4(SUFU):c.56G>T (p.Gly19Val)
|
|
|
NM_016169.4(SUFU):c.581T>C (p.Val194Ala)
|
|
|
NM_016169.4(SUFU):c.586A>C (p.Thr196Pro)
|
rs2135867363
|
|
NM_016169.4(SUFU):c.586A>G (p.Thr196Ala)
|
rs2135867363
|
|
NM_016169.4(SUFU):c.587C>T (p.Thr196Ile)
|
rs2063416715
|
|
NM_016169.4(SUFU):c.58C>G (p.Pro20Ala)
|
|
|
NM_016169.4(SUFU):c.592C>G (p.Leu198Val)
|
|
|
NM_016169.4(SUFU):c.597+15G>A
|
|
|
NM_016169.4(SUFU):c.597G>A (p.Gln199=)
|
rs1060501112
|
|
NM_016169.4(SUFU):c.59C>G (p.Pro20Arg)
|
|
|
NM_016169.4(SUFU):c.59C>T (p.Pro20Leu)
|
|
|
NM_016169.4(SUFU):c.600C>G (p.Ile200Met)
|
rs149513330
|
|
NM_016169.4(SUFU):c.614C>T (p.Thr205Ile)
|
rs1478836560
|
|
NM_016169.4(SUFU):c.616G>A (p.Glu206Lys)
|
rs1590062858
|
|
NM_016169.4(SUFU):c.618A>C (p.Glu206Asp)
|
|
|
NM_016169.4(SUFU):c.618A>T (p.Glu206Asp)
|
|
|
NM_016169.4(SUFU):c.626A>C (p.His209Pro)
|
rs1590062872
|
|
NM_016169.4(SUFU):c.62C>T (p.Thr21Ile)
|
|
|
NM_016169.4(SUFU):c.635A>G (p.Gln212Arg)
|
rs2063428727
|
|
NM_016169.4(SUFU):c.645C>G (p.Asn215Lys)
|
rs551772204
|
|
NM_016169.4(SUFU):c.646G>A (p.Gly216Arg)
|
rs2063429038
|
|
NM_016169.4(SUFU):c.649C>A (p.Gln217Lys)
|
|
|
NM_016169.4(SUFU):c.657C>G (p.Ile219Met)
|
|
|
NM_016169.4(SUFU):c.65C>A (p.Ala22Asp)
|
rs761240106
|
|
NM_016169.4(SUFU):c.65C>T (p.Ala22Val)
|
rs761240106
|
|
NM_016169.4(SUFU):c.661G>A (p.Glu221Lys)
|
|
|
NM_016169.4(SUFU):c.663G>T (p.Glu221Asp)
|
|
|
NM_016169.4(SUFU):c.664C>G (p.Leu222Val)
|
rs765345575
|
|
NM_016169.4(SUFU):c.668T>C (p.Leu223Pro)
|
|
|
NM_016169.4(SUFU):c.670C>T (p.Arg224Trp)
|
rs1590062935
|
|
NM_016169.4(SUFU):c.673A>T (p.Thr225Ser)
|
rs2063429642
|
|
NM_016169.4(SUFU):c.674C>G (p.Thr225Arg)
|
rs1432427138
|
|
NM_016169.4(SUFU):c.677T>C (p.Val226Ala)
|
rs895181370
|
|
NM_016169.4(SUFU):c.67C>G (p.Pro23Ala)
|
rs766666529
|
|
NM_016169.4(SUFU):c.683+7A>T
|
|
|
NM_016169.4(SUFU):c.686C>G (p.Ala229Gly)
|
rs1590063307
|
|
NM_016169.4(SUFU):c.686C>T (p.Ala229Val)
|
rs1590063307
|
|
NM_016169.4(SUFU):c.68C>G (p.Pro23Arg)
|
|
|
NM_016169.4(SUFU):c.694C>G (p.Pro232Ala)
|
rs1060501110
|
|
NM_016169.4(SUFU):c.694C>T (p.Pro232Ser)
|
rs1060501110
|
|
NM_016169.4(SUFU):c.695C>T (p.Pro232Leu)
|
rs1240436102
|
|
NM_016169.4(SUFU):c.696C>G (p.Pro232=)
|
rs2063434189
|
|
NM_016169.4(SUFU):c.697T>C (p.Trp233Arg)
|
rs1590063333
|
|
NM_016169.4(SUFU):c.706A>G (p.Thr236Ala)
|
|
|
NM_016169.4(SUFU):c.70C>A (p.Pro24Thr)
|
|
|
NM_016169.4(SUFU):c.70C>G (p.Pro24Ala)
|
rs1219870817
|
|
NM_016169.4(SUFU):c.70C>T (p.Pro24Ser)
|
rs1219870817
|
|
NM_016169.4(SUFU):c.712A>G (p.Met238Val)
|
rs2063434374
|
|
NM_016169.4(SUFU):c.713T>C (p.Met238Thr)
|
rs2063434396
|
|
NM_016169.4(SUFU):c.714G>A (p.Met238Ile)
|
|
|
NM_016169.4(SUFU):c.715C>G (p.Arg239Gly)
|
rs369465986
|
|
NM_016169.4(SUFU):c.715C>T (p.Arg239Trp)
|
rs369465986
|
|
NM_016169.4(SUFU):c.716G>A (p.Arg239Gln)
|
rs1403040084
|
|
NM_016169.4(SUFU):c.71C>A (p.Pro24Gln)
|
rs754218597
|
|
NM_016169.4(SUFU):c.71C>T (p.Pro24Leu)
|
|
|
NM_016169.4(SUFU):c.727A>T (p.Thr243Ser)
|
rs762294261
|
|
NM_016169.4(SUFU):c.731T>C (p.Ile244Thr)
|
rs2063435042
|
|
NM_016169.4(SUFU):c.734T>C (p.Phe245Ser)
|
rs1303650670
|
|
NM_016169.4(SUFU):c.73G>A (p.Ala25Thr)
|
rs2135597901
|
|
NM_016169.4(SUFU):c.741C>G (p.Ile247Met)
|
rs2135872473
|
|
NM_016169.4(SUFU):c.742G>C (p.Asp248His)
|
rs1283509771
|
|
NM_016169.4(SUFU):c.743A>G (p.Asp248Gly)
|
rs2135872517
|
|
NM_016169.4(SUFU):c.748C>T (p.His250Tyr)
|
rs2135872528
|
|
NM_016169.4(SUFU):c.749A>G (p.His250Arg)
|
rs750808785
|
|
NM_016169.4(SUFU):c.74C>T (p.Ala25Val)
|
rs2062291323
|
|
NM_016169.4(SUFU):c.753_756+2dup
|
rs2063435496
|
|
NM_016169.4(SUFU):c.756+10G>T
|
|
|
NM_016169.4(SUFU):c.756A>C (p.Gln252His)
|
rs1317467424
|
|
NM_016169.4(SUFU):c.757-5A>G
|
rs1590065871
|
|
NM_016169.4(SUFU):c.757G>A (p.Glu253Lys)
|
|
|
NM_016169.4(SUFU):c.758A>G (p.Glu253Gly)
|
rs2135881068
|
|
NM_016169.4(SUFU):c.761G>C (p.Arg254Thr)
|
rs2135881076
|
|
NM_016169.4(SUFU):c.773G>C (p.Gly258Ala)
|
|
|
NM_016169.4(SUFU):c.775A>G (p.Ile259Val)
|
|
|
NM_016169.4(SUFU):c.777C>G (p.Ile259Met)
|
rs749533220
|
|
NM_016169.4(SUFU):c.778G>C (p.Glu260Gln)
|
rs775245784
|
|
NM_016169.4(SUFU):c.781A>C (p.Thr261Pro)
|
rs2063471103
|
|
NM_016169.4(SUFU):c.782C>T (p.Thr261Ile)
|
rs2135881195
|
|
NM_016169.4(SUFU):c.791C>G (p.Ser264Cys)
|
|
|
NM_016169.4(SUFU):c.793A>T (p.Asn265Tyr)
|
|
|
NM_016169.4(SUFU):c.79G>A (p.Ala27Thr)
|
rs2062291537
|
|
NM_016169.4(SUFU):c.803G>A (p.Gly268Asp)
|
|
|
NM_016169.4(SUFU):c.809G>A (p.Ser270Asn)
|
|
|
NM_016169.4(SUFU):c.80C>T (p.Ala27Val)
|
rs1664857380
|
|
NM_016169.4(SUFU):c.810T>G (p.Ser270Arg)
|
rs2063471312
|
|
NM_016169.4(SUFU):c.812C>A (p.Ala271Asp)
|
|
|
NM_016169.4(SUFU):c.815A>C (p.Lys272Thr)
|
|
|
NM_016169.4(SUFU):c.815A>G (p.Lys272Arg)
|
rs2063471403
|
|
NM_016169.4(SUFU):c.820G>A (p.Ala274Thr)
|
|
|
NM_016169.4(SUFU):c.826G>A (p.Asp276Asn)
|
|
|
NM_016169.4(SUFU):c.826G>T (p.Asp276Tyr)
|
|
|
NM_016169.4(SUFU):c.827A>T (p.Asp276Val)
|
rs772598822
|
|
NM_016169.4(SUFU):c.82T>G (p.Ser28Ala)
|
|
|
NM_016169.4(SUFU):c.831C>A (p.Asp277Glu)
|
|
|
NM_016169.4(SUFU):c.836G>A (p.Ser279Asn)
|
rs1486885056
|
|
NM_016169.4(SUFU):c.837C>G (p.Ser279Arg)
|
rs1564698718
|
|
NM_016169.4(SUFU):c.841C>A (p.Pro281Thr)
|
rs2063471841
|
|
NM_016169.4(SUFU):c.841C>G (p.Pro281Ala)
|
|
|
NM_016169.4(SUFU):c.841C>T (p.Pro281Ser)
|
rs2063471841
|
|
NM_016169.4(SUFU):c.844C>G (p.Pro282Ala)
|
rs1215810497
|
|
NM_016169.4(SUFU):c.847G>A (p.Glu283Lys)
|
rs1554852789
|
|
NM_016169.4(SUFU):c.847G>C (p.Glu283Gln)
|
rs1554852789
|
|
NM_016169.4(SUFU):c.848A>C (p.Glu283Ala)
|
|
|
NM_016169.4(SUFU):c.852T>A (p.Asp284Glu)
|
|
|
NM_016169.4(SUFU):c.852_860dup (p.Asp285_Asp287dup)
|
rs2135881773
|
|
NM_016169.4(SUFU):c.853G>A (p.Asp285Asn)
|
|
|
NM_016169.4(SUFU):c.853_861dup (p.Asp285_Asp287dup)
|
rs1363458155
|
|
NM_016169.4(SUFU):c.855C>G (p.Asp285Glu)
|
rs200206997
|
|
NM_016169.4(SUFU):c.858G>C (p.Glu286Asp)
|
rs1007675139
|
|
NM_016169.4(SUFU):c.859G>A (p.Asp287Asn)
|
rs750436246
|
|
NM_016169.4(SUFU):c.862A>T (p.Ser288Cys)
|
rs2135881950
|
|
NM_016169.4(SUFU):c.865C>G (p.Arg289Gly)
|
rs755961394
|
|
NM_016169.4(SUFU):c.865C>T (p.Arg289Trp)
|
rs755961394
|
|
NM_016169.4(SUFU):c.868A>G (p.Ser290Gly)
|
rs1406131774
|
|
NM_016169.4(SUFU):c.869G>A (p.Ser290Asn)
|
rs749461207
|
|
NM_016169.4(SUFU):c.86T>G (p.Leu29Arg)
|
rs2062291773
|
|
NM_016169.4(SUFU):c.872T>A (p.Ile291Asn)
|
|
|
NM_016169.4(SUFU):c.875G>A (p.Cys292Tyr)
|
rs193921097
|
|
NM_016169.4(SUFU):c.875G>T (p.Cys292Phe)
|
rs193921097
|
|
NM_016169.4(SUFU):c.877A>C (p.Ile293Leu)
|
|
|
NM_016169.4(SUFU):c.877A>G (p.Ile293Val)
|
rs574002050
|
|
NM_016169.4(SUFU):c.878T>A (p.Ile293Asn)
|
rs1487599100
|
|
NM_016169.4(SUFU):c.881G>A (p.Gly294Asp)
|
rs761234425
|
|
NM_016169.4(SUFU):c.883A>G (p.Thr295Ala)
|
|
|
NM_016169.4(SUFU):c.887A>G (p.Gln296Arg)
|
rs2135882221
|
|
NM_016169.4(SUFU):c.890C>G (p.Pro297Arg)
|
|
|
NM_016169.4(SUFU):c.890C>T (p.Pro297Leu)
|
rs1590066137
|
|
NM_016169.4(SUFU):c.892C>G (p.Arg298Gly)
|
|
|
NM_016169.4(SUFU):c.893G>A (p.Arg298Gln)
|
rs1197687313
|
|
NM_016169.4(SUFU):c.895C>G (p.Arg299Gly)
|
|
|
NM_016169.4(SUFU):c.8A>G (p.Glu3Gly)
|
rs757097388
|
|
NM_016169.4(SUFU):c.902C>G (p.Ser301Cys)
|
rs1554852823
|
|
NM_016169.4(SUFU):c.902C>T (p.Ser301Phe)
|
rs1554852823
|
|
NM_016169.4(SUFU):c.907A>G (p.Lys303Glu)
|
|
|
NM_016169.4(SUFU):c.910+4G>A
|
rs1060501104
|
|
NM_016169.4(SUFU):c.910+5G>A
|
rs2135882479
|
|
NM_016169.4(SUFU):c.910G>A (p.Asp304Asn)
|
|
|
NM_016169.4(SUFU):c.910G>T (p.Asp304Tyr)
|
|
|
NM_016169.4(SUFU):c.913A>G (p.Thr305Ala)
|
rs1590067989
|
|
NM_016169.4(SUFU):c.913A>T (p.Thr305Ser)
|
rs1590067989
|
|
NM_016169.4(SUFU):c.915A>G (p.Thr305=)
|
|
|
NM_016169.4(SUFU):c.91C>A (p.Pro31Thr)
|
rs1554840836
|
|
NM_016169.4(SUFU):c.91C>G (p.Pro31Ala)
|
rs1554840836
|
|
NM_016169.4(SUFU):c.91C>T (p.Pro31Ser)
|
rs1554840836
|
|
NM_016169.4(SUFU):c.924C>G (p.Ile308Met)
|
|
|
NM_016169.4(SUFU):c.928G>C (p.Glu310Gln)
|
rs376797758
|
|
NM_016169.4(SUFU):c.92C>T (p.Pro31Leu)
|
rs2135598089
|
|
NM_016169.4(SUFU):c.938G>A (p.Arg313Lys)
|
|
|
NM_016169.4(SUFU):c.941G>A (p.Arg314Lys)
|
rs369741612
|
|
NM_016169.4(SUFU):c.944G>A (p.Gly315Glu)
|
rs2135888649
|
|
NM_016169.4(SUFU):c.946C>T (p.Leu316Phe)
|
rs1554853004
|
|
NM_016169.4(SUFU):c.949_954del (p.Glu317_Ile318del)
|
rs2063495678
|
|
NM_016169.4(SUFU):c.956A>G (p.Asn319Ser)
|
rs1479527039
|
|
NM_016169.4(SUFU):c.959G>A (p.Ser320Asn)
|
rs753862598
|
|
NM_016169.4(SUFU):c.959G>C (p.Ser320Thr)
|
rs753862598
|
|
NM_016169.4(SUFU):c.95C>T (p.Pro32Leu)
|
rs2135598107
|
|
NM_016169.4(SUFU):c.960C>A (p.Ser320Arg)
|
rs754716152
|
|
NM_016169.4(SUFU):c.964C>G (p.Pro322Ala)
|
|
|
NM_016169.4(SUFU):c.965C>A (p.Pro322His)
|
rs2135888788
|
|
NM_016169.4(SUFU):c.965C>T (p.Pro322Leu)
|
|
|
NM_016169.4(SUFU):c.970C>T (p.Leu324Phe)
|
rs2063495996
|
|
NM_016169.4(SUFU):c.974C>T (p.Pro325Leu)
|
rs2135888846
|
|
NM_016169.4(SUFU):c.983A>G (p.Asn328Ser)
|
rs2135888901
|
|
NM_016169.4(SUFU):c.985C>G (p.Pro329Ala)
|
rs2063496120
|
|
NM_016169.4(SUFU):c.985C>T (p.Pro329Ser)
|
|
|
NM_016169.4(SUFU):c.989A>G (p.Gln330Arg)
|
rs1060501107
|
|
NM_016169.4(SUFU):c.997A>G (p.Asn333Asp)
|
|
|
NM_017841.4(SDHAF2):c.173G>A (p.Arg58Lys)
|
|
|
NM_017841.4(SDHAF2):c.196A>G (p.Lys66Glu)
|
rs371977724
|
|
NM_017841.4(SDHAF2):c.199A>G (p.Arg67Gly)
|
rs1862011610
|
|
NM_017841.4(SDHAF2):c.235A>G (p.Met79Val)
|
rs781702725
|
|
NM_017841.4(SDHAF2):c.25A>G (p.Thr9Ala)
|
rs1554983610
|
|
NM_017841.4(SDHAF2):c.330C>A (p.Asn110Lys)
|
rs779335034
|
|
NM_017841.4(SDHAF2):c.36G>T (p.Leu12=)
|
|
|
NM_017841.4(SDHAF2):c.370+4C>G
|
rs758935566
|
|
NM_017841.4(SDHAF2):c.371-4G>C
|
|
|
NM_017841.4(SDHAF2):c.39G>C (p.Met13Ile)
|
|
|
NM_017841.4(SDHAF2):c.479_482del (p.Tyr160fs)
|
|
|
NM_017841.4(SDHAF2):c.5C>A (p.Ala2Glu)
|
|
|
NM_017841.4(SDHAF2):c.71C>T (p.Pro24Leu)
|
|
|
NM_021926.4(ALX4):c.2T>C (p.Met1Thr)
|
rs1475499990
|
|
NM_022124.6(CDH23):c.1270G>A (p.Val424Met)
|
rs2305207
|
|
NM_022124.6(CDH23):c.1417G>A (p.Val473Ile)
|
rs771847607
|
|
NM_022124.6(CDH23):c.1535C>T (p.Thr512Met)
|
|
|
NM_022124.6(CDH23):c.2745C>G (p.Ile915Met)
|
rs183220886
|
|
NM_022124.6(CDH23):c.2842G>T (p.Val948Phe)
|
rs2132740122
|
|
NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)
|
|
|
NM_022124.6(CDH23):c.2863C>A (p.Arg955Ser)
|
rs765094120
|
|
NM_022124.6(CDH23):c.2863C>T (p.Arg955Cys)
|
rs765094120
|
|
NM_022124.6(CDH23):c.2864G>A (p.Arg955His)
|
rs758293939
|
|
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg)
|
rs371962929
|
|
NM_022124.6(CDH23):c.4195G>A (p.Asp1399Asn)
|
|
|
NM_022124.6(CDH23):c.4617+5G>C
|
rs772189237
|
|
NM_022124.6(CDH23):c.5116C>T (p.Arg1706Cys)
|
rs759876454
|
|
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)
|
rs537236734
|
|
NM_022124.6(CDH23):c.6841G>A (p.Val2281Ile)
|
rs2132965400
|
|
NM_022124.6(CDH23):c.778G>T (p.Ala260Ser)
|
rs373294595
|
|
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg)
|
rs369379727
|
|
NM_022124.6(CDH23):c.8498G>A (p.Arg2833His)
|
rs534575559
|
|
NM_022124.6(CDH23):c.9726del (p.Ser3243fs)
|
rs767176528
|
|
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp)
|
rs73637412
|
|
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val)
|
rs778121381
|
|
NM_177438.3(DICER1):c.2458A>G (p.Thr820Ala)
|
rs1595380820
|
|
inv(2)(p23.1p23.2)
|
|
|
inv(9)(p12q21.33)
|
|
|
t(10;19)(q26.13;q13.43)
|
|
|
t(2;15)(q23.1;q25.3)
|
|
|