NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)
|
rs6025
|
0.01762
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)
|
rs1805128
|
0.00841
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_000128.4(F11):c.403G>T (p.Glu135Ter)
|
rs121965063
|
0.00066
|
NM_000128.4(F11):c.901T>C (p.Phe301Leu)
|
rs121965064
|
0.00065
|
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
|
rs77375493
|
0.00036
|
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His)
|
rs146292819
|
0.00029
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_000237.3(LPL):c.644G>A (p.Gly215Glu)
|
rs118204057
|
0.00024
|
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr)
|
rs74315447
|
0.00024
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)
|
rs587781722
|
0.00021
|
NM_002016.2(FLG):c.94G>T (p.Glu32Ter)
|
rs114733570
|
0.00021
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)
|
rs118192172
|
0.00011
|
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)
|
rs137853197
|
0.00011
|
NM_000069.3(CACNA1S):c.1325T>C (p.Val442Ala)
|
rs202217590
|
0.00010
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00010
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp)
|
rs199473072
|
0.00009
|
NM_007194.4(CHEK2):c.319+2T>A
|
rs587782401
|
0.00009
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)
|
rs13447331
|
0.00008
|
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter)
|
rs200667343
|
0.00007
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp)
|
rs120074190
|
0.00006
|
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser)
|
rs199472918
|
0.00006
|
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)
|
rs121909374
|
0.00006
|
NM_000501.4(ELN):c.1150+1G>A
|
rs727503030
|
0.00006
|
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)
|
rs121908030
|
0.00006
|
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)
|
rs121918593
|
0.00006
|
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)
|
rs72646846
|
0.00006
|
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)
|
rs74315445
|
0.00005
|
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)
|
rs371898076
|
0.00005
|
NM_000335.5(SCN5A):c.3437C>A (p.Thr1146Asn)
|
rs759374610
|
0.00005
|
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)
|
rs121434420
|
0.00005
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter)
|
rs376603775
|
0.00004
|
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)
|
rs587779852
|
0.00004
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
NM_000138.5(FBN1):c.1087G>A (p.Gly363Ser)
|
rs363855
|
0.00004
|
NM_000138.5(FBN1):c.8308C>T (p.His2770Tyr)
|
rs774658482
|
0.00004
|
NM_000256.3(MYBPC3):c.3330+2T>G
|
rs387906397
|
0.00004
|
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)
|
rs397516074
|
0.00004
|
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)
|
rs368861241
|
0.00004
|
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)
|
rs139624145
|
0.00004
|
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)
|
rs376459828
|
0.00004
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)
|
rs118192177
|
0.00004
|
NM_000551.4(VHL):c.562C>G (p.Leu188Val)
|
rs5030824
|
0.00004
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His)
|
rs369482365
|
0.00003
|
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)
|
rs17215500
|
0.00003
|
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile)
|
rs199472958
|
0.00003
|
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
|
rs63750875
|
0.00003
|
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys)
|
rs45611033
|
0.00003
|
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)
|
rs199473220
|
0.00003
|
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)
|
rs121908029
|
0.00003
|
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)
|
rs368657165
|
0.00003
|
NM_001005242.3(PKP2):c.2014-1G>C
|
rs193922674
|
0.00003
|
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter)
|
rs74315369
|
0.00003
|
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)
|
rs587781269
|
0.00003
|
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)
|
rs80357123
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)
|
rs80359200
|
0.00002
|
NM_000093.5(COL5A1):c.3605C>T (p.Pro1202Leu)
|
rs1198718473
|
0.00002
|
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)
|
rs63749843
|
0.00002
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
NM_000218.3(KCNQ1):c.1882G>A (p.Gly628Ser)
|
rs745990205
|
0.00002
|
NM_000218.3(KCNQ1):c.26G>C (p.Arg9Thr)
|
rs1469698360
|
0.00002
|
NM_000256.3(MYBPC3):c.927-9G>A
|
rs397516083
|
0.00002
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val)
|
rs199473266
|
0.00002
|
NM_000384.3(APOB):c.10519C>T (p.Arg3507Trp)
|
rs754264874
|
0.00002
|
NM_000540.3(RYR1):c.10422C>G (p.Asn3474Lys)
|
rs769661588
|
0.00002
|
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp)
|
rs763112609
|
0.00002
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
NM_000540.3(RYR1):c.9971T>C (p.Val3324Ala)
|
rs141515745
|
0.00002
|
NM_000545.8(HNF1A):c.1274C>T (p.Thr425Met)
|
rs1401743626
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)
|
rs193922672
|
0.00002
|
NM_001035.3(RYR2):c.6083G>A (p.Arg2028His)
|
rs1313042151
|
0.00002
|
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)
|
rs397517776
|
0.00002
|
NM_002474.3(MYH11):c.5714G>A (p.Arg1905Gln)
|
rs1443593366
|
0.00002
|
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln)
|
rs267606708
|
0.00002
|
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)
|
rs180177110
|
0.00002
|
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)
|
rs180177132
|
0.00002
|
NM_053025.4(MYLK):c.914C>T (p.Ser305Phe)
|
rs1431655501
|
0.00002
|
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)
|
rs587779815
|
0.00001
|
NM_000051.4(ATM):c.170G>A (p.Trp57Ter)
|
rs587779818
|
0.00001
|
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter)
|
rs1060501687
|
0.00001
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)
|
rs730881336
|
0.00001
|
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter)
|
rs587778080
|
0.00001
|
NM_000059.4(BRCA2):c.1800T>A (p.Tyr600Ter)
|
rs80358464
|
0.00001
|
NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter)
|
rs80358556
|
0.00001
|
NM_000059.4(BRCA2):c.4472_4475del (p.Leu1491fs)
|
rs80359452
|
0.00001
|
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)
|
rs398122783
|
0.00001
|
NM_000059.4(BRCA2):c.4821_4822del (p.Glu1608fs)
|
rs769017108
|
0.00001
|
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter)
|
rs80358981
|
0.00001
|
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp)
|
rs80359071
|
0.00001
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
NM_000069.3(CACNA1S):c.4345G>A (p.Val1449Met)
|
rs542998031
|
0.00001
|
NM_000093.5(COL5A1):c.2971G>A (p.Gly991Ser)
|
rs777368013
|
0.00001
|
NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys)
|
rs867211079
|
0.00001
|
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn)
|
rs1406315227
|
0.00001
|
NM_000138.5(FBN1):c.4913A>C (p.Tyr1638Ser)
|
rs374520085
|
0.00001
|
NM_000169.3(GLA):c.1025G>A (p.Arg342Gln)
|
rs28935493
|
0.00001
|
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)
|
rs63751017
|
0.00001
|
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)
|
rs199472815
|
0.00001
|
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)
|
rs199472720
|
0.00001
|
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val)
|
rs193922365
|
0.00001
|
NM_000219.6(KCNE1):c.179G>A (p.Gly60Asp)
|
rs758961135
|
0.00001
|
NM_000237.3(LPL):c.929G>A (p.Cys310Tyr)
|
rs1409123950
|
0.00001
|
NM_000238.4(KCNH2):c.2054G>A (p.Arg685His)
|
rs758751607
|
0.00001
|
NM_000238.4(KCNH2):c.2332G>A (p.Ala778Thr)
|
rs769076001
|
0.00001
|
NM_000249.4(MLH1):c.963_1014dup (p.Ser339fs)
|
rs1553648058
|
0.00001
|
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)
|
rs121909377
|
0.00001
|
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs)
|
rs727503166
|
0.00001
|
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)
|
rs397516103
|
0.00001
|
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser)
|
rs121913626
|
0.00001
|
NM_000257.4(MYH7):c.2609G>A (p.Arg870His)
|
rs36211715
|
0.00001
|
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)
|
rs753392652
|
0.00001
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln)
|
rs199473584
|
0.00001
|
NM_000335.5(SCN5A):c.4883G>A (p.Arg1628Gln)
|
rs199473623
|
0.00001
|
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His)
|
rs199473286
|
0.00001
|
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)
|
rs727504242
|
0.00001
|
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln)
|
rs397516357
|
0.00001
|
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)
|
rs104894727
|
0.00001
|
NM_000384.3(APOB):c.11288T>C (p.Leu3763Pro)
|
rs1663106152
|
0.00001
|
NM_000527.5(LDLR):c.1061-1G>C
|
rs879254774
|
0.00001
|
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)
|
rs137943601
|
0.00001
|
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)
|
rs368562025
|
0.00001
|
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)
|
rs879254867
|
0.00001
|
NM_000527.5(LDLR):c.1898G>A (p.Arg633His)
|
rs754536745
|
0.00001
|
NM_000527.5(LDLR):c.190+4A>T
|
rs769446356
|
0.00001
|
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg)
|
rs775092314
|
0.00001
|
NM_000527.5(LDLR):c.2061dup (p.Asn688fs)
|
rs137853965
|
0.00001
|
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
|
rs121908025
|
0.00001
|
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)
|
rs200727689
|
0.00001
|
NM_000527.5(LDLR):c.632A>T (p.His211Leu)
|
rs879254603
|
0.00001
|
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe)
|
rs121908040
|
0.00001
|
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)
|
rs875989907
|
0.00001
|
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr)
|
rs875989911
|
0.00001
|
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
|
rs63751466
|
0.00001
|
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)
|
rs63750871
|
0.00001
|
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)
|
rs587779342
|
0.00001
|
NM_000540.3(RYR1):c.13370T>G (p.Met4457Arg)
|
rs1394722307
|
0.00001
|
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln)
|
rs772978260
|
0.00001
|
NM_000540.3(RYR1):c.4744G>A (p.Glu1582Lys)
|
rs1200734670
|
0.00001
|
NM_000540.3(RYR1):c.6139G>C (p.Asp2047His)
|
rs763963516
|
0.00001
|
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)
|
rs118192122
|
0.00001
|
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)
|
rs121918594
|
0.00001
|
NM_000540.3(RYR1):c.9559C>T (p.Arg3187Trp)
|
rs1376794459
|
0.00001
|
NM_000546.6(TP53):c.375G>A (p.Thr125=)
|
rs55863639
|
0.00001
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
NM_000548.5(TSC2):c.1004C>T (p.Ser335Phe)
|
rs45517144
|
0.00001
|
NM_000548.5(TSC2):c.3815-1G>A
|
rs2090256621
|
0.00001
|
NM_000548.5(TSC2):c.4078G>A (p.Glu1360Lys)
|
rs397514997
|
0.00001
|
NM_000548.5(TSC2):c.4570-1G>A
|
rs777985056
|
0.00001
|
NM_000548.5(TSC2):c.5135C>T (p.Ala1712Val)
|
rs45517394
|
0.00001
|
NM_001005242.3(PKP2):c.1069G>A (p.Val357Met)
|
rs766334171
|
0.00001
|
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp)
|
rs766209297
|
0.00001
|
NM_001018005.2(TPM1):c.106A>G (p.Ser36Gly)
|
rs1566936237
|
0.00001
|
NM_001035.3(RYR2):c.12557T>C (p.Met4186Thr)
|
rs1224160104
|
0.00001
|
NM_001035.3(RYR2):c.1403A>G (p.Glu468Gly)
|
rs1282053556
|
0.00001
|
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)
|
rs137854557
|
0.00001
|
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)
|
rs768638173
|
0.00001
|
NM_001042492.3(NF1):c.6704+1G>T
|
rs1060500376
|
0.00001
|
NM_001127222.2(CACNA1A):c.2905C>G (p.Pro969Ala)
|
rs773766180
|
0.00001
|
NM_001127222.2(CACNA1A):c.3364C>T (p.Arg1122Cys)
|
rs774407963
|
0.00001
|
NM_001276345.2(TNNT2):c.823C>T (p.Arg275Ter)
|
rs748970759
|
0.00001
|
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)
|
rs121913008
|
0.00001
|
NM_002474.3(MYH11):c.2152C>T (p.Arg718Trp)
|
rs1275950124
|
0.00001
|
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)
|
rs138996609
|
0.00001
|
NM_003001.5(SDHC):c.1A>G (p.Met1Val)
|
rs755235380
|
0.00001
|
NM_003001.5(SDHC):c.82G>T (p.Val28Phe)
|
rs754818119
|
0.00001
|
NM_003242.6(TGFBR2):c.95-2A>G
|
rs779131465
|
0.00001
|
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe)
|
rs398123697
|
0.00001
|
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter)
|
rs767643821
|
0.00001
|
NM_004415.4(DSP):c.4684T>C (p.Ser1562Pro)
|
rs1394590334
|
0.00001
|
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter)
|
rs369841551
|
0.00001
|
NM_005912.3(MC4R):c.749T>A (p.Leu250Gln)
|
rs772393451
|
0.00001
|
NM_007194.4(CHEK2):c.319+1G>A
|
rs765080766
|
0.00001
|
NM_007294.4(BRCA1):c.2475del (p.Asp825fs)
|
rs80357970
|
0.00001
|
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)
|
rs62625308
|
0.00001
|
NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs)
|
rs80357729
|
0.00001
|
NM_007294.4(BRCA1):c.4357+1G>A
|
rs80358027
|
0.00001
|
NM_007294.4(BRCA1):c.442-1G>T
|
rs1351019392
|
0.00001
|
NM_007294.4(BRCA1):c.4603G>T (p.Glu1535Ter)
|
rs80357366
|
0.00001
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_020975.6(RET):c.2370G>T (p.Leu790Phe)
|
rs75030001
|
0.00001
|
NM_024422.6(DSC2):c.1781T>C (p.Ile594Thr)
|
rs915888072
|
0.00001
|
NM_024422.6(DSC2):c.2206A>G (p.Asn736Asp)
|
rs371950232
|
0.00001
|
NM_024675.4(PALB2):c.108+1G>A
|
rs1060499814
|
0.00001
|
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)
|
rs397517889
|
0.00001
|
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)
|
rs397517906
|
0.00001
|
NM_174936.4(PCSK9):c.772A>G (p.Lys258Glu)
|
rs771479424
|
0.00001
|
NM_000038.6(APC):c.3766C>T (p.Gln1256Ter)
|
rs77056664
|
|
NM_000038.6(APC):c.694C>T (p.Arg232Ter)
|
rs397515734
|
|
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter)
|
rs377597949
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)
|
rs730881388
|
|
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)
|
rs587776549
|
|
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)
|
rs587781831
|
|
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs)
|
rs1555093684
|
|
NM_000051.4(ATM):c.4373del (p.Gly1458fs)
|
rs587781653
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter)
|
rs1565607653
|
|
NM_000051.4(ATM):c.8988-2A>G
|
rs786202087
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
NM_000059.4(BRCA2):c.1205del (p.Gly402fs)
|
rs397507265
|
|
NM_000059.4(BRCA2):c.1411G>T (p.Glu471Ter)
|
rs80358428
|
|
NM_000059.4(BRCA2):c.1794_1798del
|
rs276174813
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs)
|
rs80359373
|
|
NM_000059.4(BRCA2):c.3199del (p.Thr1067fs)
|
rs80359377
|
|
NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter)
|
rs80358573
|
|
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer)
|
rs80359391
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)
|
rs397515636
|
|
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter)
|
rs80359429
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer)
|
rs80359459
|
|
NM_000059.4(BRCA2):c.4885A>C (p.Thr1629Pro)
|
rs879255455
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5130T>G (p.Tyr1710Ter)
|
rs1566231778
|
|
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer)
|
rs80359496
|
|
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)
|
rs80359530
|
|
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)
|
rs80358824
|
|
NM_000059.4(BRCA2):c.6033_6034del (p.Ser2012fs)
|
rs397507823
|
|
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter)
|
rs80358840
|
|
NM_000059.4(BRCA2):c.6206T>G (p.Leu2069Ter)
|
rs80358859
|
|
NM_000059.4(BRCA2):c.6842-2A>G
|
rs1555285132
|
|
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)
|
rs80358928
|
|
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs)
|
rs80359636
|
|
NM_000059.4(BRCA2):c.7133C>G (p.Ser2378Ter)
|
rs276174889
|
|
NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter)
|
rs397507912
|
|
NM_000059.4(BRCA2):c.7806-2A>G
|
rs81002836
|
|
NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter)
|
rs80359011
|
|
NM_000059.4(BRCA2):c.7977-1G>C
|
rs81002874
|
|
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala)
|
rs41293513
|
|
NM_000059.4(BRCA2):c.8633-1G>A
|
rs398122711
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8915T>A (p.Leu2972Ter)
|
rs80359142
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
NM_000059.4(BRCA2):c.9257-1G>C
|
rs81002889
|
|
NM_000059.4(BRCA2):c.9401del (p.Gly3134fs)
|
rs80359759
|
|
NM_000059.4(BRCA2):c.9689del (p.Leu3230fs)
|
rs755175776
|
|
NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter)
|
rs4987049
|
|
NM_000090.4(COL3A1):c.1022C>A (p.Ala341Asp)
|
rs1688217809
|
|
NM_000090.4(COL3A1):c.1244C>A (p.Pro415His)
|
rs1408351089
|
|
NM_000090.4(COL3A1):c.2588G>A (p.Arg863His)
|
rs755762264
|
|
NM_000090.4(COL3A1):c.3202G>T (p.Gly1068Cys)
|
rs1559061954
|
|
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter)
|
rs794728060
|
|
NM_000093.5(COL5A1):c.1048T>C (p.Ser350Pro)
|
rs1588479393
|
|
NM_000093.5(COL5A1):c.1060G>A (p.Asp354Asn)
|
rs1834835178
|
|
NM_000093.5(COL5A1):c.1111G>A (p.Gly371Ser)
|
rs1834838821
|
|
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu)
|
rs900216804
|
|
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)
|
rs80358233
|
|
NM_000138.5(FBN1):c.1313C>T (p.Ser438Phe)
|
rs2043799037
|
|
NM_000138.5(FBN1):c.1462T>G (p.Cys488Gly)
|
rs1555400373
|
|
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)
|
rs730880099
|
|
NM_000138.5(FBN1):c.203G>A (p.Cys68Tyr)
|
rs1597633163
|
|
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr)
|
rs397515775
|
|
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp)
|
rs1163486953
|
|
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val)
|
rs397515806
|
|
NM_000169.3(GLA):c.337_354del (p.Phe113_Arg118del)
|
rs2147480442
|
|
NM_000179.3(MSH6):c.1705_1706del (p.Phe569fs)
|
rs587783056
|
|
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)
|
rs587781462
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3922_3938dup (p.Gln1314fs)
|
rs1670123011
|
|
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)
|
rs267608120
|
|
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)
|
rs267608121
|
|
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)
|
rs267608094
|
|
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter)
|
rs397508072
|
|
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)
|
rs397508104
|
|
NM_000218.3(KCNQ1):c.425del (p.Leu142fs)
|
rs794728566
|
|
NM_000218.3(KCNQ1):c.488del (p.Leu163fs)
|
rs397508112
|
|
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)
|
rs120074177
|
|
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)
|
rs397508118
|
|
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys)
|
rs74462309
|
|
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp)
|
rs199473362
|
|
NM_000237.3(LPL):c.249+1G>A
|
rs1563569634
|
|
NM_000238.4(KCNH2):c.1468G>A (p.Ala490Thr)
|
rs28928905
|
|
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln)
|
rs199473421
|
|
NM_000238.4(KCNH2):c.245T>C (p.Ile82Thr)
|
rs1563189895
|
|
NM_000238.4(KCNH2):c.2870C>T (p.Pro957Leu)
|
rs1800962566
|
|
NM_000249.4(MLH1):c.116+1G>A
|
rs267607709
|
|
NM_000249.4(MLH1):c.1410-2A>G
|
rs746536721
|
|
NM_000249.4(MLH1):c.1410-2_1410-1delinsCC
|
rs1559558071
|
|
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.34_46del (p.Leu11_Asp12insTer)
|
rs2080891193
|
|
NM_000249.4(MLH1):c.538G>T (p.Val180Phe)
|
rs1559524603
|
|
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)
|
rs63751711
|
|
NM_000249.4(MLH1):c.67G>T (p.Glu23Ter)
|
rs63750823
|
|
NM_000249.4(MLH1):c.76C>T (p.Gln26Ter)
|
rs63749827
|
|
NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter)
|
rs63750396
|
|
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)
|
rs63749849
|
|
NM_000251.3(MSH2):c.1201_1204del (p.Leu401fs)
|
rs1558478567
|
|
NM_000251.3(MSH2):c.715C>T (p.Gln239Ter)
|
rs63750488
|
|
NM_000256.3(MYBPC3):c.1168del (p.His390fs)
|
rs397515889
|
|
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs)
|
rs397515925
|
|
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)
|
rs397516068
|
|
NM_000256.3(MYBPC3):c.905+1G>T
|
rs767698543
|
|
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)
|
rs3218714
|
|
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)
|
rs727503263
|
|
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr)
|
rs727503261
|
|
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys)
|
rs727503253
|
|
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)
|
rs397516178
|
|
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)
|
rs139794067
|
|
NM_000314.8(PTEN):c.179del (p.Lys60fs)
|
rs1114167671
|
|
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)
|
rs1060500126
|
|
NM_000314.8(PTEN):c.491del (p.Lys164fs)
|
rs786204900
|
|
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)
|
rs121909219
|
|
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)
|
rs587782350
|
|
NM_000335.5(SCN5A):c.2335del (p.Gln779fs)
|
rs2061687300
|
|
NM_000335.5(SCN5A):c.4553G>A (p.Gly1518Asp)
|
rs1322825102
|
|
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His)
|
rs137854607
|
|
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter)
|
rs794728849
|
|
NM_000368.5(TSC1):c.1891G>A (p.Ala631Thr)
|
rs1845613535
|
|
NM_000368.5(TSC1):c.3327G>T (p.Met1109Ile)
|
rs1845043593
|
|
NM_000384.3(APOB):c.10072A>C (p.Asn3358His)
|
rs1663155110
|
|
NM_000384.3(APOB):c.10147G>A (p.Gly3383Ser)
|
rs1663152041
|
|
NM_000384.3(APOB):c.10540G>A (p.Ala3514Thr)
|
rs747633151
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
NM_000384.3(APOB):c.13320del (p.Glu4441fs)
|
rs750076573
|
|
NM_000384.3(APOB):c.9105T>A (p.Asn3035Lys)
|
rs147510760
|
|
NM_000455.5(STK11):c.1026G>T (p.Glu342Asp)
|
rs1195673013
|
|
NM_000455.5(STK11):c.793dup (p.Glu265fs)
|
rs2080782095
|
|
NM_000458.4(HNF1B):c.1282C>T (p.Gln428Ter)
|
rs2032692897
|
|
NM_000458.4(HNF1B):c.157G>T (p.Gly53Trp)
|
rs2034119580
|
|
NM_000527.4(LDLR):c.-152C>T
|
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
NM_000527.5(LDLR):c.1056_1060+3del
|
rs879254770
|
|
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
|
|
|
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs)
|
rs875989916
|
|
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
|
|
|
NM_000527.5(LDLR):c.1214_1217dup (p.His407fs)
|
rs2077407494
|
|
NM_000527.5(LDLR):c.1284del (p.Asn428fs)
|
rs2077409930
|
|
NM_000527.5(LDLR):c.1309G>A (p.Ala437Thr)
|
rs1223171296
|
|
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)
|
rs267607213
|
|
NM_000527.5(LDLR):c.1327T>C (p.Trp443Arg)
|
rs773566855
|
|
NM_000527.5(LDLR):c.1358+2T>A
|
rs193922567
|
|
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
|
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
|
|
NM_000527.5(LDLR):c.1599G>A (p.Trp533Ter)
|
rs879254952
|
|
NM_000527.5(LDLR):c.1640T>C (p.Leu547Pro)
|
rs879254968
|
|
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
|
|
|
NM_000527.5(LDLR):c.1705+1G>A
|
rs875989926
|
|
NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter)
|
rs875989933
|
|
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
|
|
|
NM_000527.5(LDLR):c.1911del (p.Asp638fs)
|
rs867272973
|
|
NM_000527.5(LDLR):c.195_196insAT (p.Val66fs)
|
rs879254435
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
|
|
NM_000527.5(LDLR):c.2045T>G (p.Leu682Arg)
|
rs879255119
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
|
|
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val)
|
rs879255143
|
|
NM_000527.5(LDLR):c.227_233del (p.Gly76fs)
|
rs2147216927
|
|
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
|
|
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
|
|
NM_000527.5(LDLR):c.2444T>A (p.Leu815His)
|
rs2077687532
|
|
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter)
|
rs377437226
|
|
NM_000527.5(LDLR):c.2547+1G>A
|
rs879255224
|
|
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp)
|
rs879254520
|
|
NM_000527.5(LDLR):c.467del (p.Asn156fs)
|
rs1057516135
|
|
NM_000527.5(LDLR):c.482T>A (p.Ile161Asn)
|
rs754933794
|
|
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
|
|
|
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)
|
rs557344672
|
|
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
|
|
|
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys)
|
rs879254597
|
|
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)
|
rs121908027
|
|
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)
|
rs875989906
|
|
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
|
|
|
NM_000527.5(LDLR):c.680_681del (p.Asp227fs)
|
rs387906305
|
|
NM_000527.5(LDLR):c.695-1G>A
|
rs879254652
|
|
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)
|
rs879254667
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
|
|
NM_000531.6(OTC):c.119G>A (p.Arg40His)
|
rs72554308
|
|
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter)
|
rs63750490
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
NM_000535.7(PMS2):c.325dup (p.Glu109fs)
|
rs587781716
|
|
NM_000535.7(PMS2):c.452G>C (p.Arg151Pro)
|
rs35629870
|
|
NM_000535.7(PMS2):c.457del (p.Arg153fs)
|
rs1785207289
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)
|
rs587780062
|
|
NM_000535.7(PMS2):c.873del (p.Phe291fs)
|
rs1261282733
|
|
NM_000535.7(PMS2):c.989-1G>T
|
rs587780064
|
|
NM_000540.3(RYR1):c.10477C>T (p.Arg3493Cys)
|
rs750367227
|
|
NM_000540.3(RYR1):c.12024G>C (p.Gln4008His)
|
rs1972429144
|
|
NM_000540.3(RYR1):c.1291G>A (p.Ala431Thr)
|
rs768357333
|
|
NM_000540.3(RYR1):c.1440+2T>G
|
rs1555767403
|
|
NM_000540.3(RYR1):c.14647-3_14647del
|
rs1568611362
|
|
NM_000540.3(RYR1):c.3526A>G (p.Thr1176Ala)
|
rs1968278835
|
|
NM_000540.3(RYR1):c.5318C>G (p.Pro1773Arg)
|
rs1969269453
|
|
NM_000540.3(RYR1):c.7060G>A (p.Val2354Met)
|
rs746971794
|
|
NM_000545.8(HNF1A):c.1731C>A (p.His577Gln)
|
rs1877319456
|
|
NM_000545.8(HNF1A):c.864_897del (p.Pro290fs)
|
rs1565885935
|
|
NM_000546.6(TP53):c.272G>A (p.Trp91Ter)
|
rs2073465664
|
|
NM_000546.6(TP53):c.365_366del (p.Val122fs)
|
rs587780067
|
|
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)
|
rs28934874
|
|
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)
|
rs28934874
|
|
NM_000546.6(TP53):c.455dup (p.Pro153fs)
|
rs730882019
|
|
NM_000546.6(TP53):c.560-1G>C
|
rs1202793339
|
|
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)
|
rs587778720
|
|
NM_000546.6(TP53):c.730G>A (p.Gly244Ser)
|
rs1057519989
|
|
NM_000546.6(TP53):c.794T>C (p.Leu265Pro)
|
rs879253942
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
NM_000546.6(TP53):c.892G>T (p.Glu298Ter)
|
rs201744589
|
|
NM_000548.5(TSC2):c.1184G>A (p.Cys395Tyr)
|
rs1026632436
|
|
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)
|
rs28934872
|
|
NM_000548.5(TSC2):c.1866_1870dup (p.Asp624fs)
|
rs2088388374
|
|
NM_000551.4(VHL):c.551T>C (p.Leu184Pro)
|
rs1064793878
|
|
NM_000702.4(ATP1A2):c.2809del (p.Arg937fs)
|
rs1651974671
|
|
NM_000891.3(KCNJ2):c.102G>T (p.Lys34Asn)
|
rs1476737505
|
|
NM_000891.3(KCNJ2):c.794C>T (p.Ser265Phe)
|
rs1598211406
|
|
NM_000937.5(POLR2A):c.1314_1319del (p.His439_Leu440del)
|
rs2070546216
|
|
NM_000937.5(POLR2A):c.323G>A (p.Arg108His)
|
rs762784138
|
|
NM_000937.5(POLR2A):c.3275C>T (p.Ala1092Val)
|
rs2070664416
|
|
NM_000937.5(POLR2A):c.3281C>T (p.Ser1094Phe)
|
rs775858617
|
|
NM_000937.5(POLR2A):c.3407C>T (p.Thr1136Ile)
|
rs2070665204
|
|
NM_000937.5(POLR2A):c.3752A>G (p.Asn1251Ser)
|
rs2070680579
|
|
NM_000937.5(POLR2A):c.418C>T (p.Arg140Trp)
|
rs1329988533
|
|
NM_000937.5(POLR2A):c.4252G>A (p.Gly1418Arg)
|
rs2070711917
|
|
NM_000937.5(POLR2A):c.5440_5441del (p.Gln1814fs)
|
rs778071890
|
|
NM_000937.5(POLR2A):c.83C>G (p.Pro28Arg)
|
rs1388837601
|
|
NM_000937.5(POLR2A):c.89A>T (p.Glu30Val)
|
rs2070399240
|
|
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)
|
rs397516997
|
|
NM_001005242.3(PKP2):c.1511del (p.Gly504fs)
|
rs794729137
|
|
NM_001005242.3(PKP2):c.1689dup (p.Val564fs)
|
rs397517010
|
|
NM_001005242.3(PKP2):c.275T>A (p.Leu92Ter)
|
rs763639737
|
|
NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter)
|
rs760576804
|
|
NM_001005242.3(PKP2):c.623del (p.Thr208fs)
|
rs794729122
|
|
NM_001005242.3(PKP2):c.985A>G (p.Ser329Gly)
|
rs779173447
|
|
NM_001035.3(RYR2):c.4895T>A (p.Ile1632Asn)
|
rs1373346977
|
|
NM_001035.3(RYR2):c.5507A>G (p.Asn1836Ser)
|
rs1678261343
|
|
NM_001035.3(RYR2):c.6656G>T (p.Ser2219Ile)
|
rs774615963
|
|
NM_001042492.3(NF1):c.3520C>T (p.Gln1174Ter)
|
rs868450405
|
|
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)
|
rs199474742
|
|
NM_001042492.3(NF1):c.4985G>A (p.Trp1662Ter)
|
rs1567611375
|
|
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter)
|
rs876657714
|
|
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)
|
rs786202112
|
|
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])
|
rs864622639
|
|
NM_001083603.3(PTCH1):c.93C>G (p.Tyr31Ter)
|
rs756069384
|
|
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter)
|
rs1568473171
|
|
NM_001244008.2(KIF1A):c.813CAA[1] (p.Asn272del)
|
rs2054280202
|
|
NM_001267550.2(TTN):c.102352C>T (p.Arg34118Ter)
|
rs1212204584
|
|
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu)
|
rs397516457
|
|
NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile)
|
rs121964858
|
|
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)
|
rs45578238
|
|
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro)
|
rs397516484
|
|
NM_001370259.2(MEN1):c.1639G>A (p.Glu547Lys)
|
rs1941508162
|
|
NM_001370259.2(MEN1):c.1665_1668del (p.Ser555fs)
|
rs1114167510
|
|
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs)
|
rs749294057
|
|
NM_001371928.1(AHDC1):c.1446del (p.Val483fs)
|
rs2148286122
|
|
NM_001371928.1(AHDC1):c.1759C>T (p.Arg587Ter)
|
rs886041620
|
|
NM_001371928.1(AHDC1):c.1945del (p.Ala649fs)
|
rs796065042
|
|
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter)
|
rs1165205177
|
|
NM_001371928.1(AHDC1):c.2188G>T (p.Glu730Ter)
|
rs2019433712
|
|
NM_001371928.1(AHDC1):c.2229del (p.Ser744fs)
|
rs886039900
|
|
NM_001371928.1(AHDC1):c.2373_2374del (p.Cys791fs)
|
rs587779766
|
|
NM_001371928.1(AHDC1):c.2415del (p.Leu806fs)
|
rs2148277718
|
|
NM_001371928.1(AHDC1):c.2473C>T (p.Gln825Ter)
|
rs2148277199
|
|
NM_001371928.1(AHDC1):c.2520del (p.Arg841fs)
|
rs2148276974
|
|
NM_001371928.1(AHDC1):c.2644C>T (p.Gln882Ter)
|
rs1297310572
|
|
NM_001371928.1(AHDC1):c.2691del (p.Val898fs)
|
rs886041676
|
|
NM_001371928.1(AHDC1):c.2773C>T (p.Arg925Ter)
|
rs777736953
|
|
NM_001371928.1(AHDC1):c.2849del (p.Pro950fs)
|
rs2148273933
|
|
NM_001371928.1(AHDC1):c.2898del (p.Tyr967fs)
|
rs587779767
|
|
NM_001371928.1(AHDC1):c.2908C>T (p.Gln970Ter)
|
rs886041781
|
|
NM_001371928.1(AHDC1):c.2932C>T (p.Gln978Ter)
|
rs2148272898
|
|
NM_001371928.1(AHDC1):c.3204C>G (p.Tyr1068Ter)
|
rs1036650716
|
|
NM_001371928.1(AHDC1):c.3466C>T (p.Gln1156Ter)
|
rs1557658942
|
|
NM_001371928.1(AHDC1):c.3773C>G (p.Ser1258Ter)
|
rs2148265222
|
|
NM_001371928.1(AHDC1):c.3809del (p.Gln1270fs)
|
rs796065041
|
|
NM_001371928.1(AHDC1):c.3989C>A (p.Ser1330Ter)
|
rs199659346
|
|
NM_001371928.1(AHDC1):c.4438del (p.Glu1480fs)
|
rs2148258069
|
|
NM_001371928.1(AHDC1):c.643dup (p.Ser215fs)
|
rs2148293420
|
|
NM_001371928.1(AHDC1):c.784C>T (p.Gln262Ter)
|
rs2148292413
|
|
NM_001371928.1(AHDC1):c.979C>T (p.Gln327Ter)
|
rs1553159753
|
|
NM_001613.4(ACTA2):c.691A>G (p.Thr231Ala)
|
rs1845811593
|
|
NM_001943.5(DSG2):c.146G>A (p.Arg49His)
|
rs121913006
|
|
NM_001943.5(DSG2):c.1826dup (p.Leu610fs)
|
rs1039633976
|
|
NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer)
|
rs1375081885
|
|
NM_001943.5(DSG2):c.2817del (p.Tyr940fs)
|
rs1567934773
|
|
NM_001943.5(DSG2):c.2857del (p.Leu953fs)
|
rs2073308127
|
|
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)
|
rs397516706
|
|
NM_001943.5(DSG2):c.512_516del (p.Leu171fs)
|
rs1568105371
|
|
NM_002474.3(MYH11):c.1042A>C (p.Lys348Gln)
|
rs2041924034
|
|
NM_002474.3(MYH11):c.2308T>C (p.Phe770Leu)
|
rs571704734
|
|
NM_002474.3(MYH11):c.4613A>C (p.Glu1538Ala)
|
rs1343964791
|
|
NM_002734.5(PRKAR1A):c.565_566insC (p.Glu189fs)
|
rs2143321666
|
|
NM_003001.5(SDHC):c.386G>A (p.Trp129Ter)
|
rs1672294906
|
|
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp)
|
rs863223792
|
|
NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His)
|
rs104893816
|
|
NM_003242.6(TGFBR2):c.835T>C (p.Phe279Leu)
|
rs746824357
|
|
NM_003361.4(UMOD):c.197T>C (p.Leu66Pro)
|
rs1567311288
|
|
NM_003361.4(UMOD):c.774G>C (p.Trp258Cys)
|
rs1567309582
|
|
NM_004168.4(SDHA):c.2T>G (p.Met1Arg)
|
rs750380279
|
|
NM_004168.4(SDHA):c.688del (p.Glu230fs)
|
rs1553998199
|
|
NM_004168.4(SDHA):c.944dup (p.Gly316fs)
|
rs1579402180
|
|
NM_004304.5(ALK):c.4298_4299del (p.Glu1433fs)
|
rs1668950344
|
|
NM_004329.3(BMPR1A):c.1533del (p.Arg511fs)
|
rs1843700160
|
|
NM_004415.4(DSP):c.2894T>C (p.Leu965Pro)
|
rs1581813405
|
|
NM_004415.4(DSP):c.3725T>C (p.Leu1242Pro)
|
rs1759365693
|
|
NM_004415.4(DSP):c.4352T>C (p.Leu1451Pro)
|
rs1554108296
|
|
NM_004415.4(DSP):c.6166G>C (p.Gly2056Arg)
|
rs780274878
|
|
NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu)
|
rs768837509
|
|
NM_004415.4(DSP):c.71C>G (p.Pro24Arg)
|
rs978383808
|
|
NM_005188.4(CBL):c.1495C>T (p.Arg499Ter)
|
rs778927765
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)
|
rs104894230
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys)
|
rs387906853
|
|
NM_006231.4(POLE):c.3757G>A (p.Glu1253Lys)
|
rs1184564186
|
|
NM_007194.4(CHEK2):c.1134del (p.Ser379fs)
|
rs1569114113
|
|
NM_007194.4(CHEK2):c.1461+1G>A
|
rs886039629
|
|
NM_007194.4(CHEK2):c.468C>G (p.Tyr156Ter)
|
rs1555926996
|
|
NM_007194.4(CHEK2):c.494del (p.Gly165fs)
|
rs1569157733
|
|
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter)
|
rs886039609
|
|
NM_007194.4(CHEK2):c.793-1G>A
|
rs730881687
|
|
NM_007194.4(CHEK2):c.971del (p.Cys324fs)
|
rs1569121172
|
|
NM_007294.4(BRCA1):c.1016dup (p.Val340fs)
|
rs80357569
|
|
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg)
|
rs80357164
|
|
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer)
|
rs80357969
|
|
NM_007294.4(BRCA1):c.1556del (p.Lys519fs)
|
rs80357662
|
|
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs)
|
rs80357567
|
|
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter)
|
rs80357086
|
|
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs)
|
rs80357526
|
|
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter)
|
rs80357082
|
|
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)
|
rs80356978
|
|
NM_007294.4(BRCA1):c.2744_2745del (p.Glu914_Ser915insTer)
|
rs80357540
|
|
NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs)
|
rs80357829
|
|
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs)
|
rs80357749
|
|
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)
|
rs80357701
|
|
NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter)
|
rs80357136
|
|
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)
|
rs80357877
|
|
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter)
|
rs80356923
|
|
NM_007294.4(BRCA1):c.3664G>T (p.Glu1222Ter)
|
rs80357356
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs)
|
rs80357579
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs)
|
rs80359876
|
|
NM_007294.4(BRCA1):c.4986+6T>G
|
rs80358086
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter)
|
rs80356974
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs)
|
rs80357867
|
|
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly)
|
rs80357227
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)
|
rs387906563
|
|
NM_015335.5(MED13L):c.263G>A (p.Trp88Ter)
|
rs1870202051
|
|
NM_020975.6(RET):c.1858T>G (p.Cys620Gly)
|
rs77316810
|
|
NM_020975.6(RET):c.3222dup (p.Val1075fs)
|
rs1838374810
|
|
NM_024334.3(TMEM43):c.1019T>C (p.Phe340Ser)
|
rs1559363663
|
|
NM_024334.3(TMEM43):c.1147G>A (p.Ala383Thr)
|
rs1695250482
|
|
NM_024422.6(DSC2):c.1281A>C (p.Glu427Asp)
|
rs1238451971
|
|
NM_024422.6(DSC2):c.2125+1del
|
rs794728072
|
|
NM_024422.6(DSC2):c.637G>A (p.Ala213Thr)
|
rs1987456031
|
|
NM_024426.6(WT1):c.1142del (p.Pro381fs)
|
rs1564972993
|
|
NM_024426.6(WT1):c.52G>C (p.Ala18Pro)
|
rs1590411684
|
|
NM_024675.4(PALB2):c.1032_1033dup (p.Leu345fs)
|
rs1555461488
|
|
NM_024675.4(PALB2):c.1299G>T (p.Leu433Phe)
|
rs1966978476
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
NM_024675.4(PALB2):c.2120del (p.Pro707fs)
|
rs587780210
|
|
NM_024675.4(PALB2):c.226del (p.Ile76fs)
|
rs587782443
|
|
NM_024675.4(PALB2):c.228_229del (p.Ile76fs)
|
rs1555461870
|
|
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)
|
rs747148023
|
|
NM_024675.4(PALB2):c.2515-1G>A
|
rs587776417
|
|
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs)
|
rs730881869
|
|
NM_024675.4(PALB2):c.2748+1G>T
|
rs753153576
|
|
NM_024675.4(PALB2):c.2974_2975del (p.Met992fs)
|
rs1966798806
|
|
NM_024675.4(PALB2):c.3202-1G>A
|
rs515726111
|
|
NM_024675.4(PALB2):c.347T>A (p.Leu116Ter)
|
rs876660465
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
NM_053025.4(MYLK):c.2390+1G>C
|
rs762794821
|
|
NM_053025.4(MYLK):c.4834C>A (p.Leu1612Met)
|
rs1309391189
|
|
NM_170707.4(LMNA):c.427T>C (p.Ser143Pro)
|
rs61661343
|
|
NM_174936.4(PCSK9):c.467G>A (p.Trp156Ter)
|
rs1557500768
|
|
NM_174936.4(PCSK9):c.468G>A (p.Trp156Ter)
|
rs1557500771
|
|
NM_174936.4(PCSK9):c.644G>A (p.Arg215His)
|
rs794728683
|
|
NM_177438.3(DICER1):c.1174C>T (p.Arg392Ter)
|
rs1131691211
|
|
NM_177438.3(DICER1):c.2026C>T (p.Arg676Ter)
|
rs878855246
|
|
Single allele
|
|
|