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_000335.5(SCN5A):c.1844G>A (p.Gly615Glu)
|
rs12720452
|
0.00030
|
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)
|
rs137854617
|
0.00016
|
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser)
|
rs368838866
|
0.00012
|
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp)
|
rs151207122
|
0.00009
|
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln)
|
rs200142970
|
0.00007
|
NM_000527.5(LDLR):c.1516G>A (p.Val506Met)
|
rs373848925
|
0.00006
|
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
0.00006
|
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser)
|
rs373869746
|
0.00006
|
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg)
|
rs199473260
|
0.00004
|
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr)
|
rs141155833
|
0.00004
|
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys)
|
rs370860696
|
0.00004
|
NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys)
|
rs185392267
|
0.00004
|
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln)
|
rs869312163
|
0.00003
|
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His)
|
rs199473011
|
0.00003
|
NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser)
|
rs200034939
|
0.00003
|
NM_000527.5(LDLR):c.1835C>T (p.Ala612Val)
|
rs377449975
|
0.00003
|
NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro)
|
rs879255203
|
0.00003
|
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser)
|
rs750474121
|
0.00003
|
NM_000527.5(LDLR):c.731C>G (p.Ser244Cys)
|
rs1208667598
|
0.00003
|
NM_000169.3(GLA):c.593T>C (p.Ile198Thr)
|
rs727503950
|
0.00002
|
NM_000335.5(SCN5A):c.4015G>A (p.Val1339Ile)
|
rs199473605
|
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_000527.5(LDLR):c.1049G>A (p.Arg350Gln)
|
rs875989914
|
0.00002
|
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn)
|
rs767767730
|
0.00002
|
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met)
|
rs149227308
|
0.00002
|
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn)
|
rs201971888
|
0.00002
|
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr)
|
rs774730452
|
0.00002
|
NM_000138.5(FBN1):c.6163+2dup
|
rs794728315
|
0.00001
|
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)
|
rs869312162
|
0.00001
|
NM_000169.3(GLA):c.724A>G (p.Ile242Val)
|
rs397515873
|
0.00001
|
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)
|
rs199472720
|
0.00001
|
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys)
|
rs199473180
|
0.00001
|
NM_000335.5(SCN5A):c.4931C>T (p.Thr1644Met)
|
rs199473288
|
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.1393T>A (p.Tyr465Asn)
|
rs730882101
|
0.00001
|
NM_000527.5(LDLR):c.1817C>A (p.Ala606Asp)
|
rs1410295777
|
0.00001
|
NM_000527.5(LDLR):c.1845G>A (p.Glu615=)
|
rs879255047
|
0.00001
|
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg)
|
rs766903209
|
0.00001
|
NM_000527.5(LDLR):c.2206G>A (p.Val736Ile)
|
rs547268730
|
0.00001
|
NM_000527.5(LDLR):c.508G>A (p.Asp170Asn)
|
rs139089530
|
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.3424del (p.Trp1142fs)
|
rs1168352165
|
0.00001
|
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu)
|
rs754002399
|
0.00001
|
NM_001048174.2(MUTYH):c.2T>C (p.Met1Thr)
|
rs201163858
|
0.00001
|
NM_001048174.2(MUTYH):c.614G>A (p.Gly205Asp)
|
rs147487160
|
0.00001
|
NM_174936.4(PCSK9):c.1426C>T (p.Arg476Cys)
|
rs761767572
|
0.00001
|
NM_174936.4(PCSK9):c.142G>A (p.Glu48Lys)
|
rs1278890129
|
0.00001
|
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp)
|
rs374603772
|
0.00001
|
NM_174936.4(PCSK9):c.1503G>A (p.Glu501=)
|
rs986151799
|
0.00001
|
NM_174936.4(PCSK9):c.658G>A (p.Ala220Thr)
|
rs768795323
|
0.00001
|
NM_000038.6(APC):c.1626+3A>G
|
rs1060503372
|
|
NM_000051.4(ATM):c.2639-22_2639-20del
|
rs1064795554
|
|
NM_000051.4(ATM):c.4110-9C>G
|
rs730881367
|
|
NM_000051.4(ATM):c.4397_4398delinsCG (p.Arg1466Pro)
|
rs886038217
|
|
NM_000051.4(ATM):c.6198G>C (p.Gln2066His)
|
rs786203341
|
|
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys)
|
rs786203394
|
|
NM_000059.4(BRCA2):c.7857G>C (p.Trp2619Cys)
|
rs80359011
|
|
NM_000077.5(CDKN2A):c.242C>G (p.Pro81Arg)
|
rs11552823
|
|
NM_000077.5(CDKN2A):c.250G>T (p.Asp84Tyr)
|
rs11552822
|
|
NM_000169.3(GLA):c.1277_1278del (p.Lys426fs)
|
rs869312249
|
|
NM_000179.3(MSH6):c.1282A>G (p.Lys428Glu)
|
rs761822293
|
|
NM_000179.3(MSH6):c.3470G>A (p.Gly1157Asp)
|
rs752212361
|
|
NM_000238.4(KCNH2):c.2771G>A (p.Gly924Glu)
|
rs199473009
|
|
NM_000251.3(MSH2):c.1807G>C (p.Asp603His)
|
rs63750657
|
|
NM_000251.3(MSH2):c.1808A>T (p.Asp603Val)
|
rs267607985
|
|
NM_000251.3(MSH2):c.1818_1877del (p.Ser607_Glu626del)
|
rs1553368576
|
|
NM_000251.3(MSH2):c.1979A>G (p.Asp660Gly)
|
rs1085308057
|
|
NM_000251.3(MSH2):c.2030C>G (p.Thr677Arg)
|
rs876660711
|
|
NM_000335.5(SCN5A):c.2291T>C (p.Met764Thr)
|
rs199473156
|
|
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser)
|
rs137854609
|
|
NM_000335.5(SCN5A):c.4296+6T>C
|
rs794728934
|
|
NM_000335.5(SCN5A):c.5723A>G (p.Gln1908Arg)
|
rs199473326
|
|
NM_000527.4(LDLR):c.-142C>G
|
rs879254370
|
|
NM_000527.4(LDLR):c.-172G>A
|
rs1555800629
|
|
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys)
|
rs879254750
|
|
NM_000527.5(LDLR):c.1010A>G (p.Glu337Gly)
|
rs2077362818
|
|
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
|
|
|
NM_000527.5(LDLR):c.1156G>T (p.Asp386Tyr)
|
rs1402951356
|
|
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val)
|
rs730882100
|
|
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT
|
rs879254876
|
|
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn)
|
rs780316072
|
|
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
|
|
|
NM_000527.5(LDLR):c.1555C>A (p.Pro519Thr)
|
rs875989923
|
|
NM_000527.5(LDLR):c.1761C>G (p.Ser587Arg)
|
rs753430282
|
|
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys)
|
rs875989933
|
|
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
|
|
|
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)
|
rs875989936
|
|
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser)
|
rs745753810
|
|
NM_000527.5(LDLR):c.2089G>A (p.Ala697Thr)
|
rs776217028
|
|
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
|
|
|
NM_000527.5(LDLR):c.2506G>A (p.Val836Ile)
|
rs879255220
|
|
NM_000527.5(LDLR):c.431C>T (p.Pro144Leu)
|
rs912448894
|
|
NM_000527.5(LDLR):c.666C>T (p.Cys222=)
|
rs756613387
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
|
|
|
NM_000527.5(LDLR):c.853C>T (p.His285Tyr)
|
|
|
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg)
|
rs761765254
|
|
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs)
|
rs758580075
|
|
NM_000546.6(TP53):c.388C>T (p.Leu130Phe)
|
rs863224683
|
|
NM_000546.6(TP53):c.643A>G (p.Ser215Gly)
|
rs886039484
|
|
NM_000546.6(TP53):c.838A>G (p.Arg280Gly)
|
rs753660142
|
|
NM_007294.4(BRCA1):c.5201T>G (p.Phe1734Cys)
|
rs397509237
|
|
NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)
|
|
|
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu)
|
rs778849441
|
|
NM_174936.4(PCSK9):c.158C>G (p.Ala53Gly)
|
rs11583680
|
|
NM_174936.4(PCSK9):c.1979A>C (p.Asp660Ala)
|
|
|
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu)
|
rs569379713
|
|
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)
|
|
|