NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)
|
rs41292782
|
0.00155
|
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)
|
rs200911496
|
0.00048
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln)
|
rs142546324
|
0.00038
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)
|
rs149866955
|
0.00023
|
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)
|
rs137854617
|
0.00016
|
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)
|
rs147320363
|
0.00014
|
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)
|
rs199472728
|
0.00013
|
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser)
|
rs368838866
|
0.00012
|
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)
|
rs397516050
|
0.00011
|
NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln)
|
rs191009474
|
0.00011
|
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)
|
rs193922879
|
0.00011
|
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)
|
rs34321232
|
0.00011
|
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His)
|
rs193922626
|
0.00010
|
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp)
|
rs151207122
|
0.00009
|
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln)
|
rs138362632
|
0.00008
|
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala)
|
rs138315511
|
0.00008
|
NM_000527.5(LDLR):c.1503G>A (p.Ala501=)
|
rs368889457
|
0.00008
|
NM_000335.5(SCN5A):c.4067C>T (p.Ala1356Val)
|
rs370588133
|
0.00007
|
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu)
|
rs759109699
|
0.00007
|
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)
|
rs199907548
|
0.00006
|
NM_000527.5(LDLR):c.233G>A (p.Arg78His)
|
rs146675823
|
0.00006
|
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser)
|
rs373869746
|
0.00006
|
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys)
|
rs150993059
|
0.00006
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
NM_000335.5(SCN5A):c.4456A>C (p.Met1486Leu)
|
rs199473258
|
0.00005
|
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly)
|
rs193922671
|
0.00005
|
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His)
|
rs199473482
|
0.00004
|
NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys)
|
rs141401803
|
0.00004
|
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val)
|
rs199473012
|
0.00004
|
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro)
|
rs397516000
|
0.00004
|
NM_000258.3(MYL3):c.466G>A (p.Val156Met)
|
rs199474707
|
0.00004
|
NM_000335.5(SCN5A):c.3905G>A (p.Arg1302Gln)
|
rs977717858
|
0.00004
|
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His)
|
rs199473283
|
0.00004
|
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter)
|
rs794728940
|
0.00004
|
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter)
|
rs757532106
|
0.00004
|
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr)
|
rs141155833
|
0.00004
|
NM_000527.5(LDLR):c.2072C>T (p.Ser691Leu)
|
rs369943481
|
0.00004
|
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys)
|
rs370860696
|
0.00004
|
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly)
|
rs745361721
|
0.00004
|
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)
|
rs372673338
|
0.00004
|
NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter)
|
rs778127887
|
0.00004
|
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala)
|
rs772677312
|
0.00004
|
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly)
|
rs372670098
|
0.00003
|
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His)
|
rs45627438
|
0.00003
|
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln)
|
rs199473211
|
0.00003
|
NM_000335.5(SCN5A):c.393-1C>T
|
rs759235726
|
0.00003
|
NM_000527.4(LDLR):c.-286C>G
|
rs989307060
|
0.00003
|
NM_000527.5(LDLR):c.-121T>C
|
rs777716188
|
0.00003
|
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr)
|
rs764493597
|
0.00003
|
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser)
|
rs750474121
|
0.00003
|
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp)
|
rs483352832
|
0.00003
|
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala)
|
rs587780192
|
0.00003
|
NM_024675.4(PALB2):c.3235G>T (p.Ala1079Ser)
|
rs730881878
|
0.00003
|
NM_174936.4(PCSK9):c.610G>A (p.Asp204Asn)
|
rs793888521
|
0.00003
|
NM_000051.4(ATM):c.7775C>G (p.Ser2592Cys)
|
rs755009196
|
0.00002
|
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser)
|
rs1156984408
|
0.00002
|
NM_000169.3(GLA):c.593T>C (p.Ile198Thr)
|
rs727503950
|
0.00002
|
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)
|
rs17221854
|
0.00002
|
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn)
|
rs730880923
|
0.00002
|
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val)
|
rs199473266
|
0.00002
|
NM_000335.5(SCN5A):c.612-2A>G
|
rs370438420
|
0.00002
|
NM_000527.4(LDLR):c.-153C>T
|
rs879254366
|
0.00002
|
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met)
|
rs149227308
|
0.00002
|
NM_000527.5(LDLR):c.1335C>A (p.Asp445Glu)
|
rs749780672
|
0.00002
|
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met)
|
rs755154048
|
0.00002
|
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr)
|
rs774730452
|
0.00002
|
NM_000051.4(ATM):c.1695A>G (p.Glu565=)
|
rs780932013
|
0.00001
|
NM_000051.4(ATM):c.2376+3A>T
|
rs758083563
|
0.00001
|
NM_000051.4(ATM):c.2838+4A>G
|
rs876659907
|
0.00001
|
NM_000051.4(ATM):c.2930G>A (p.Cys977Tyr)
|
rs876660628
|
0.00001
|
NM_000051.4(ATM):c.496+3A>G
|
rs876658311
|
0.00001
|
NM_000051.4(ATM):c.5005+1G>T
|
rs1057517427
|
0.00001
|
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro)
|
rs747800057
|
0.00001
|
NM_000051.4(ATM):c.6056A>G (p.Tyr2019Cys)
|
rs876658415
|
0.00001
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
NM_000051.4(ATM):c.7307+3_7307+4insGTTC
|
rs587782288
|
0.00001
|
NM_000051.4(ATM):c.7559T>G (p.Met2520Arg)
|
rs587782692
|
0.00001
|
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys)
|
rs80359104
|
0.00001
|
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu)
|
rs80338777
|
0.00001
|
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)
|
rs869312162
|
0.00001
|
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)
|
rs782449839
|
0.00001
|
NM_000179.3(MSH6):c.3601C>G (p.Leu1201Val)
|
rs182024561
|
0.00001
|
NM_000179.3(MSH6):c.4053_4081dup (p.*1361Leuext*3)
|
rs2104583584
|
0.00001
|
NM_000218.3(KCNQ1):c.575G>A (p.Arg192His)
|
rs199472698
|
0.00001
|
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)
|
rs199472720
|
0.00001
|
NM_000238.4(KCNH2):c.2350C>T (p.Arg784Trp)
|
rs12720441
|
0.00001
|
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His)
|
rs199473432
|
0.00001
|
NM_000249.4(MLH1):c.492A>C (p.Lys164Asn)
|
rs765014361
|
0.00001
|
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)
|
rs397516225
|
0.00001
|
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)
|
rs753392652
|
0.00001
|
NM_000335.5(SCN5A):c.2422C>T (p.Arg808Cys)
|
rs749864465
|
0.00001
|
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys)
|
rs199473180
|
0.00001
|
NM_000335.5(SCN5A):c.2911C>T (p.Arg971Cys)
|
rs61737825
|
0.00001
|
NM_000335.5(SCN5A):c.3148G>A (p.Ala1050Thr)
|
rs1373296470
|
0.00001
|
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)
|
rs137854602
|
0.00001
|
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys)
|
rs45514691
|
0.00001
|
NM_000335.5(SCN5A):c.4873C>T (p.Arg1625Cys)
|
rs918933961
|
0.00001
|
NM_000335.5(SCN5A):c.5473C>T (p.Arg1825Cys)
|
rs199473635
|
0.00001
|
NM_000335.5(SCN5A):c.5737A>G (p.Arg1913Gly)
|
rs766751878
|
0.00001
|
NM_000335.5(SCN5A):c.5935G>T (p.Val1979Phe)
|
rs772258197
|
0.00001
|
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln)
|
rs199473071
|
0.00001
|
NM_000335.5(SCN5A):c.689T>C (p.Ile230Thr)
|
rs199473073
|
0.00001
|
NM_000527.4(LDLR):c.-120C>T
|
rs875989886
|
0.00001
|
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)
|
rs730882098
|
0.00001
|
NM_000527.5(LDLR):c.1367T>C (p.Leu456Pro)
|
rs200143634
|
0.00001
|
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys)
|
rs193922568
|
0.00001
|
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu)
|
rs879254976
|
0.00001
|
NM_000527.5(LDLR):c.1845G>A (p.Glu615=)
|
rs879255047
|
0.00001
|
NM_000527.5(LDLR):c.2119G>A (p.Asp707Asn)
|
rs879255142
|
0.00001
|
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser)
|
rs375495026
|
0.00001
|
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys)
|
rs776421777
|
0.00001
|
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys)
|
rs746834464
|
0.00001
|
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu)
|
rs754002399
|
0.00001
|
NM_000546.6(TP53):c.328C>T (p.Arg110Cys)
|
rs587781371
|
0.00001
|
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs)
|
rs587780086
|
0.00001
|
NM_001048174.2(MUTYH):c.170A>G (p.His57Arg)
|
rs558707786
|
0.00001
|
NM_001048174.2(MUTYH):c.992C>T (p.Pro331Leu)
|
rs1060501323
|
0.00001
|
NM_003242.6(TGFBR2):c.95-2A>G
|
rs779131465
|
0.00001
|
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His)
|
rs755827803
|
0.00001
|
NM_005902.4(SMAD3):c.1129G>A (p.Val377Ile)
|
rs730880216
|
0.00001
|
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr)
|
rs1060502688
|
0.00001
|
NM_032043.3(BRIP1):c.2905+3A>G
|
rs1555573247
|
0.00001
|
NM_032043.3(BRIP1):c.3525dup (p.Ile1176fs)
|
rs777367075
|
0.00001
|
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp)
|
rs374603772
|
0.00001
|
NM_000038.6(APC):c.8446C>T (p.Arg2816Ter)
|
|
|
NM_000051.4(ATM):c.1700A>G (p.Asn567Ser)
|
rs786203230
|
|
NM_000051.4(ATM):c.172G>T (p.Asp58Tyr)
|
rs876660661
|
|
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro)
|
rs786203783
|
|
NM_000051.4(ATM):c.2466+5G>C
|
rs1064795969
|
|
NM_000051.4(ATM):c.3092A>T (p.Glu1031Val)
|
rs758708495
|
|
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser)
|
rs864622654
|
|
NM_000051.4(ATM):c.3994-160T>C
|
rs2082548304
|
|
NM_000051.4(ATM):c.4888G>A (p.Asp1630Asn)
|
rs1555101921
|
|
NM_000051.4(ATM):c.5189G>T (p.Arg1730Leu)
|
rs373789346
|
|
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile)
|
rs587781963
|
|
NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys)
|
rs1555110591
|
|
NM_000051.4(ATM):c.6198+3A>G
|
rs786202092
|
|
NM_000051.4(ATM):c.7630-3C>G
|
rs587782448
|
|
NM_000051.4(ATM):c.8151G>A (p.Lys2717=)
|
rs1591192550
|
|
NM_000051.4(ATM):c.8268G>A (p.Lys2756=)
|
rs1555128642
|
|
NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn)
|
rs1555128642
|
|
NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly)
|
rs397507359
|
|
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg)
|
rs398122591
|
|
NM_000059.4(BRCA2):c.7796A>G (p.Glu2599Gly)
|
rs780715340
|
|
NM_000059.4(BRCA2):c.7874G>T (p.Arg2625Ile)
|
rs864622552
|
|
NM_000059.4(BRCA2):c.8162T>A (p.Leu2721His)
|
rs80359061
|
|
NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu)
|
rs1060502432
|
|
NM_000059.4(BRCA2):c.8243G>T (p.Gly2748Val)
|
rs80359071
|
|
NM_000059.4(BRCA2):c.8342A>T (p.Asn2781Ile)
|
rs1434821822
|
|
NM_000059.4(BRCA2):c.8351G>T (p.Arg2784Leu)
|
rs80359076
|
|
NM_000059.4(BRCA2):c.8363G>C (p.Trp2788Ser)
|
rs80359080
|
|
NM_000059.4(BRCA2):c.8954-3C>G
|
rs81002844
|
|
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp)
|
rs397507416
|
|
NM_000059.4(BRCA2):c.9217G>T (p.Asp3073Tyr)
|
rs876658262
|
|
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)
|
rs80359186
|
|
NM_000059.4(BRCA2):c.9364G>C (p.Ala3122Pro)
|
rs587782313
|
|
NM_000077.5(CDKN2A):c.203C>T (p.Ala68Val)
|
rs1060501260
|
|
NM_000077.5(CDKN2A):c.322G>A (p.Asp108Asn)
|
rs121913381
|
|
NM_000077.5(CDKN2A):c.67G>T (p.Gly23Cys)
|
rs1131691186
|
|
NM_000169.3(GLA):c.239G>A (p.Gly80Asp)
|
rs781838005
|
|
NM_000179.3(MSH6):c.2591G>A (p.Gly864Glu)
|
rs587781306
|
|
NM_000179.3(MSH6):c.2873A>G (p.Gln958Arg)
|
rs876660185
|
|
NM_000179.3(MSH6):c.2927G>A (p.Arg976His)
|
rs63751113
|
|
NM_000179.3(MSH6):c.3023C>T (p.Thr1008Ile)
|
rs1558667779
|
|
NM_000179.3(MSH6):c.3416G>A (p.Gly1139Asp)
|
rs1316409501
|
|
NM_000179.3(MSH6):c.3482CTG[1] (p.Ala1162del)
|
rs63751427
|
|
NM_000179.3(MSH6):c.3927_3938dup (p.Glu1310_Ile1313dup)
|
rs1670125444
|
|
NM_000179.3(MSH6):c.3947G>A (p.Gly1316Glu)
|
rs876661174
|
|
NM_000218.3(KCNQ1):c.1178A>T (p.Lys393Met)
|
rs199472775
|
|
NM_000238.4(KCNH2):c.2468G>A (p.Arg823Gln)
|
rs1064793147
|
|
NM_000238.4(KCNH2):c.3007G>T (p.Asp1003Tyr)
|
rs794728402
|
|
NM_000249.4(MLH1):c.1178T>C (p.Leu393Pro)
|
rs786203413
|
|
NM_000249.4(MLH1):c.1652A>C (p.Asn551Thr)
|
rs63750271
|
|
NM_000249.4(MLH1):c.1706C>T (p.Ala569Val)
|
rs1559578814
|
|
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser)
|
rs587781796
|
|
NM_000249.4(MLH1):c.1877T>C (p.Phe626Ser)
|
rs587778952
|
|
NM_000249.4(MLH1):c.1897-2A>G
|
rs267607871
|
|
NM_000249.4(MLH1):c.2159T>G (p.Val720Gly)
|
rs587778985
|
|
NM_000249.4(MLH1):c.292G>A (p.Gly98Ser)
|
rs267607725
|
|
NM_000249.4(MLH1):c.344T>A (p.Ile115Asn)
|
rs764120517
|
|
NM_000249.4(MLH1):c.439G>C (p.Gly147Arg)
|
rs267607747
|
|
NM_000249.4(MLH1):c.69A>T (p.Glu23Asp)
|
rs63750555
|
|
NM_000251.3(MSH2):c.1033_1034insTAT (p.Gln344_Trp345insLeu)
|
rs587782374
|
|
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del)
|
rs587779082
|
|
NM_000251.3(MSH2):c.1805T>C (p.Leu602Pro)
|
rs1553368561
|
|
NM_000251.3(MSH2):c.1871T>G (p.Ile624Ser)
|
rs1114167870
|
|
NM_000251.3(MSH2):c.1890A>T (p.Gly630=)
|
|
|
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu)
|
rs63751432
|
|
NM_000251.3(MSH2):c.524T>C (p.Leu175Pro)
|
rs63751291
|
|
NM_000251.3(MSH2):c.942+3A>G
|
rs193922376
|
|
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn)
|
rs371564200
|
|
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile)
|
rs1060505018
|
|
NM_000257.4(MYH7):c.2821C>T (p.Arg941Cys)
|
rs750435648
|
|
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)
|
rs139794067
|
|
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile)
|
rs199473054
|
|
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser)
|
rs137854609
|
|
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met)
|
rs199473297
|
|
NM_000432.4(MYL2):c.431_432del (p.Pro144fs)
|
rs1566147422
|
|
NM_000432.4(MYL2):c.92_93+1del
|
rs751392310
|
|
NM_000455.5(STK11):c.737ACA[1] (p.Asn247del)
|
|
|
NM_000465.4(BARD1):c.215+5_215+8del
|
rs876658777
|
|
NM_000527.4(LDLR):c.-101T>C
|
rs747068848
|
|
NM_000527.5(LDLR):c.1003G>C (p.Gly335Arg)
|
rs544453230
|
|
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys)
|
rs879254750
|
|
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr)
|
rs139361635
|
|
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val)
|
rs730882100
|
|
NM_000527.5(LDLR):c.1366C>T (p.Leu456Phe)
|
rs761004553
|
|
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
|
|
|
NM_000527.5(LDLR):c.1640T>C (p.Leu547Pro)
|
rs879254968
|
|
NM_000527.5(LDLR):c.1646G>C (p.Gly549Ala)
|
rs28941776
|
|
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu)
|
rs777188764
|
|
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys)
|
rs875989933
|
|
NM_000527.5(LDLR):c.1928C>T (p.Ala643Val)
|
rs879255075
|
|
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala)
|
|
|
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)
|
rs875989936
|
|
NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser)
|
rs770744861
|
|
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser)
|
rs745753810
|
|
NM_000527.5(LDLR):c.2125A>G (p.Arg709Gly)
|
rs1057519684
|
|
NM_000527.5(LDLR):c.367T>C (p.Ser123Pro)
|
rs879254495
|
|
NM_000527.5(LDLR):c.491T>C (p.Leu164Pro)
|
rs879254544
|
|
NM_000527.5(LDLR):c.510C>A (p.Asp170Glu)
|
rs1060499931
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg)
|
rs761765254
|
|
NM_000527.5(LDLR):c.980A>C (p.His327Pro)
|
rs2077361686
|
|
NM_000546.6(TP53):c.643A>G (p.Ser215Gly)
|
rs886039484
|
|
NM_000546.6(TP53):c.709A>G (p.Met237Val)
|
rs730882004
|
|
NM_000546.6(TP53):c.717C>G (p.Asn239Lys)
|
rs1057522275
|
|
NM_000546.6(TP53):c.824G>C (p.Cys275Ser)
|
rs863224451
|
|
NM_001048174.2(MUTYH):c.1434+4A>G
|
rs876658323
|
|
NM_001048174.2(MUTYH):c.299A>G (p.Tyr100Cys)
|
rs876660615
|
|
NM_001048174.2(MUTYH):c.317A>T (p.Glu106Val)
|
rs864622450
|
|
NM_001048174.2(MUTYH):c.420G>A (p.Glu140=)
|
rs876658641
|
|
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)
|
rs397516706
|
|
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del)
|
rs794728093
|
|
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)
|
rs730880147
|
|
NM_002878.4(RAD51D):c.620C>G (p.Ser207Trp)
|
rs370228071
|
|
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp)
|
rs199660234
|
|
NM_003242.6(TGFBR2):c.1168G>A (p.Asp390Asn)
|
rs2125436704
|
|
NM_004329.3(BMPR1A):c.869-9A>G
|
rs2133588734
|
|
NM_004656.4(BAP1):c.535C>T (p.Arg179Trp)
|
rs910211860
|
|
NM_007194.4(CHEK2):c.1542+3A>G
|
rs1060502722
|
|
NM_007294.4(BRCA1):c.5003T>C (p.Phe1668Ser)
|
rs1567772408
|
|
NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly)
|
rs1567769155
|
|
NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.5202T>G (p.Phe1734Leu)
|
rs869320780
|
|
NM_007294.4(BRCA1):c.5254G>A (p.Ala1752Thr)
|
rs80357074
|
|
NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn)
|
rs80357368
|
|
NM_007294.4(BRCA1):c.5522G>C (p.Ser1841Thr)
|
rs80357368
|
|
NM_007294.4(BRCA1):c.83T>C (p.Leu28Pro)
|
rs80357266
|
|
NM_024675.4(PALB2):c.2996+5G>T
|
rs879254193
|
|
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)
|
rs876659859
|
|
NM_024675.4(PALB2):c.49-1G>A
|
rs1440838364
|
|
NM_032043.3(BRIP1):c.1140+3del
|
rs2145331108
|
|
NM_032043.3(BRIP1):c.1341-3C>G
|
rs864622597
|
|
NM_032043.3(BRIP1):c.2097+1G>C
|
rs786202941
|
|
NM_032043.3(BRIP1):c.3440dup (p.Asn1147fs)
|
rs753683450
|
|
NM_032043.3(BRIP1):c.93+5G>A
|
rs730881629
|
|
NM_058216.3(RAD51C):c.837+4_837+7del
|
rs727503760
|
|
NM_058216.3(RAD51C):c.904G>A (p.Gly302Arg)
|
rs1555602158
|
|
NM_170707.4(LMNA):c.1698+1G>C
|
rs1553266337
|
|