NM_003383.5(VLDLR):c.*46C>G
|
rs35412127
|
0.00193
|
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr)
|
rs151330612
|
0.00121
|
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His)
|
rs35339834
|
0.00108
|
NM_003383.5(VLDLR):c.1809C>T (p.Asn603=)
|
rs6147
|
0.00088
|
NM_016529.6(ATP8A2):c.158C>T (p.Ala53Val)
|
rs202073376
|
0.00078
|
NM_001163809.2(WDR81):c.3115G>A (p.Ala1039Thr)
|
rs369748157
|
0.00061
|
NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg)
|
rs148487944
|
0.00053
|
NM_003383.5(VLDLR):c.1791G>A (p.Ala597=)
|
rs115773578
|
0.00053
|
NM_003383.5(VLDLR):c.1313G>A (p.Gly438Asp)
|
rs200605669
|
0.00050
|
NM_003383.5(VLDLR):c.-122T>C
|
rs886063802
|
0.00044
|
NM_003383.5(VLDLR):c.792C>T (p.Cys264=)
|
rs141850403
|
0.00036
|
NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln)
|
rs202017613
|
0.00036
|
NM_003383.5(VLDLR):c.*16T>C
|
rs150475109
|
0.00029
|
NM_003383.5(VLDLR):c.*83C>T
|
rs755339168
|
0.00026
|
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser)
|
rs182216426
|
0.00026
|
NM_003383.5(VLDLR):c.732C>G (p.Ile244Met)
|
rs145995735
|
0.00026
|
NM_003383.5(VLDLR):c.*48C>T
|
rs368949453
|
0.00024
|
NM_003383.5(VLDLR):c.2104+5C>T
|
rs201953557
|
0.00022
|
NM_003383.5(VLDLR):c.1132T>C (p.Tyr378His)
|
rs142885301
|
0.00021
|
NM_001163809.2(WDR81):c.1072A>G (p.Ser358Gly)
|
rs780969097
|
0.00020
|
NM_003383.5(VLDLR):c.582C>T (p.Gly194=)
|
rs148012674
|
0.00018
|
NM_003383.5(VLDLR):c.1838G>A (p.Arg613His)
|
rs35948251
|
0.00017
|
NM_003383.5(VLDLR):c.1667G>A (p.Arg556Gln)
|
rs746518411
|
0.00016
|
NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp)
|
rs371560228
|
0.00016
|
NM_001163809.2(WDR81):c.4778T>C (p.Leu1593Pro)
|
rs149405514
|
0.00015
|
NM_016529.6(ATP8A2):c.2896A>G (p.Ile966Val)
|
rs202061089
|
0.00013
|
NM_003383.5(VLDLR):c.2395G>A (p.Ala799Thr)
|
rs183359461
|
0.00012
|
NM_003383.5(VLDLR):c.*460G>A
|
rs550310153
|
0.00010
|
NM_003383.5(VLDLR):c.*63C>T
|
rs17848373
|
0.00010
|
NM_003383.5(VLDLR):c.-392C>T
|
rs867729388
|
0.00010
|
NM_003383.5(VLDLR):c.639C>T (p.Asp213=)
|
rs779155452
|
0.00008
|
NM_003383.5(VLDLR):c.-207G>A
|
rs1429851395
|
0.00007
|
NM_001163809.2(WDR81):c.5314C>T (p.Pro1772Ser)
|
rs144021458
|
0.00006
|
NM_003383.5(VLDLR):c.1041G>C (p.Trp347Cys)
|
rs114872818
|
0.00006
|
NM_003383.5(VLDLR):c.1179C>T (p.Thr393=)
|
rs372577949
|
0.00006
|
NM_003383.5(VLDLR):c.2270C>T (p.Thr757Ile)
|
rs17848383
|
0.00006
|
NM_003383.5(VLDLR):c.449-14C>G
|
rs370176704
|
0.00006
|
NM_001163809.2(WDR81):c.5659G>A (p.Val1887Met)
|
rs200284291
|
0.00005
|
NM_003383.5(VLDLR):c.1966C>T (p.Arg656Cys)
|
rs754226022
|
0.00005
|
NM_003383.5(VLDLR):c.469G>A (p.Asp157Asn)
|
rs768045623
|
0.00005
|
NM_003383.5(VLDLR):c.640G>A (p.Asp214Asn)
|
rs113347960
|
0.00005
|
NM_003383.5(VLDLR):c.921C>T (p.Ser307=)
|
rs777240049
|
0.00005
|
NM_003383.5(VLDLR):c.*281G>C
|
rs753515879
|
0.00004
|
NM_003383.5(VLDLR):c.1755A>C (p.Gly585=)
|
rs372963310
|
0.00004
|
NM_003383.5(VLDLR):c.2416+13C>T
|
rs200878136
|
0.00004
|
NM_003383.5(VLDLR):c.2546T>C (p.Ile849Thr)
|
rs116082439
|
0.00004
|
NM_001163809.2(WDR81):c.2494G>A (p.Glu832Lys)
|
rs928788426
|
0.00003
|
NM_003383.5(VLDLR):c.2222A>G (p.Asn741Ser)
|
rs371150001
|
0.00003
|
NM_003383.5(VLDLR):c.692G>A (p.Arg231His)
|
rs767529669
|
0.00003
|
NM_001163809.2(WDR81):c.5027C>T (p.Pro1676Leu)
|
rs746252411
|
0.00002
|
NM_001163809.2(WDR81):c.826C>T (p.Arg276Cys)
|
rs886540540
|
0.00002
|
NM_003383.5(VLDLR):c.*192C>T
|
rs763576733
|
0.00002
|
NM_003383.5(VLDLR):c.*21C>T
|
rs776834603
|
0.00002
|
NM_003383.5(VLDLR):c.-121C>T
|
rs886063803
|
0.00002
|
NM_003383.5(VLDLR):c.-154C>G
|
rs985479340
|
0.00002
|
NM_003383.5(VLDLR):c.704T>C (p.Ile235Thr)
|
rs778029251
|
0.00002
|
NM_001163809.2(WDR81):c.1474A>C (p.Ile492Leu)
|
rs992608564
|
0.00001
|
NM_001163809.2(WDR81):c.1907C>A (p.Pro636Gln)
|
rs1203128651
|
0.00001
|
NM_001163809.2(WDR81):c.3085G>A (p.Ala1029Thr)
|
rs766140596
|
0.00001
|
NM_001163809.2(WDR81):c.5179+6C>T
|
rs748777672
|
0.00001
|
NM_003383.5(VLDLR):c.*267A>G
|
rs1036108012
|
0.00001
|
NM_003383.5(VLDLR):c.*51C>T
|
rs752035004
|
0.00001
|
NM_003383.5(VLDLR):c.-48G>C
|
rs1054805961
|
0.00001
|
NM_003383.5(VLDLR):c.1066+14T>C
|
rs762128149
|
0.00001
|
NM_003383.5(VLDLR):c.1343G>A (p.Arg448Gln)
|
rs137946976
|
0.00001
|
NM_003383.5(VLDLR):c.1546G>A (p.Ala516Thr)
|
rs369197633
|
0.00001
|
NM_003383.5(VLDLR):c.2104+6G>A
|
rs773398189
|
0.00001
|
NM_003383.5(VLDLR):c.2251A>T (p.Ser751Cys)
|
rs1818277717
|
0.00001
|
NM_003383.5(VLDLR):c.299G>C (p.Gly100Ala)
|
rs753848585
|
0.00001
|
NM_003383.5(VLDLR):c.541G>A (p.Asp181Asn)
|
rs144469558
|
0.00001
|
NM_016529.6(ATP8A2):c.1665G>A (p.Met555Ile)
|
rs1398724919
|
0.00001
|
NM_016529.6(ATP8A2):c.1976G>A (p.Arg659Gln)
|
rs566960742
|
0.00001
|
NM_016529.6(ATP8A2):c.2689G>A (p.Ala897Thr)
|
rs1171835963
|
0.00001
|
GRCh38/hg38 13q12.13(chr13:25567155-25574530)x0
|
|
|
NM_001163809.2(WDR81):c.1045G>C (p.Val349Leu)
|
rs150798889
|
|
NM_001163809.2(WDR81):c.1157T>C (p.Val386Ala)
|
rs1915232687
|
|
NM_001163809.2(WDR81):c.1735G>A (p.Gly579Arg)
|
|
|
NM_001163809.2(WDR81):c.1950C>G (p.Asp650Glu)
|
rs1915315281
|
|
NM_001163809.2(WDR81):c.2051A>G (p.Gln684Arg)
|
rs748793270
|
|
NM_001163809.2(WDR81):c.2980C>T (p.Arg994Trp)
|
|
|
NM_001163809.2(WDR81):c.3854C>T (p.Pro1285Leu)
|
rs199995527
|
|
NM_001163809.2(WDR81):c.482C>T (p.Pro161Leu)
|
rs374149596
|
|
NM_001163809.2(WDR81):c.5018G>A (p.Arg1673His)
|
|
|
NM_001163809.2(WDR81):c.5248G>C (p.Ala1750Pro)
|
rs150784268
|
|
NM_001163809.2(WDR81):c.838_852del (p.Ala280_Leu284del)
|
|
|
NM_003383.5(VLDLR):c.*214C>T
|
rs189180202
|
|
NM_003383.5(VLDLR):c.*351C>G
|
rs1818497609
|
|
NM_003383.5(VLDLR):c.*45C>T
|
rs920949909
|
|
NM_003383.5(VLDLR):c.*517G>C
|
rs886063813
|
|
NM_003383.5(VLDLR):c.*98G>A
|
rs543466401
|
|
NM_003383.5(VLDLR):c.-302T>C
|
rs1007541973
|
|
NM_003383.5(VLDLR):c.-303C>G
|
rs1816795166
|
|
NM_003383.5(VLDLR):c.-335C>T
|
rs557105742
|
|
NM_003383.5(VLDLR):c.-99C>G
|
rs1816811812
|
|
NM_003383.5(VLDLR):c.1213A>C (p.Ile405Leu)
|
|
|
NM_003383.5(VLDLR):c.1374del (p.Glu460fs)
|
rs1586653366
|
|
NM_003383.5(VLDLR):c.1452C>A (p.Phe484Leu)
|
rs144724569
|
|
NM_003383.5(VLDLR):c.1703+10C>G
|
rs372047946
|
|
NM_003383.5(VLDLR):c.1971C>T (p.Val657=)
|
rs1039272492
|
|
NM_003383.5(VLDLR):c.2089C>T (p.Leu697Phe)
|
rs1818184738
|
|
NM_003383.5(VLDLR):c.2103A>C (p.Ser701=)
|
rs886063811
|
|
NM_003383.5(VLDLR):c.2104G>C (p.Gly702Arg)
|
rs1454735635
|
|
NM_003383.5(VLDLR):c.2168C>T (p.Pro723Leu)
|
rs1818271045
|
|
NM_003383.5(VLDLR):c.2379A>G (p.Pro793=)
|
rs1300402424
|
|
NM_003383.5(VLDLR):c.2582C>G (p.Pro861Arg)
|
|
|
NM_003383.5(VLDLR):c.263G>A (p.Arg88Gln)
|
|
|
NM_003383.5(VLDLR):c.311G>T (p.Ser104Ile)
|
|
|
NM_003383.5(VLDLR):c.449-112G>A
|
|
|
NM_003383.5(VLDLR):c.505A>G (p.Arg169Gly)
|
rs777739092
|
|
NM_003383.5(VLDLR):c.570G>C (p.Pro190=)
|
rs116556362
|
|
NM_003383.5(VLDLR):c.711C>G (p.Thr237=)
|
rs781637501
|
|
NM_003383.5(VLDLR):c.772T>C (p.Cys258Arg)
|
|
|
NM_003383.5(VLDLR):c.828A>C (p.Arg276=)
|
rs777520243
|
|
NM_003383.5(VLDLR):c.862G>T (p.Gly288Cys)
|
rs886063808
|
|
NM_003383.5(VLDLR):c.863G>C (p.Gly288Ala)
|
rs886063809
|
|
NM_003383.5(VLDLR):c.919T>C (p.Ser307Pro)
|
rs1817930978
|
|
NM_016529.6(ATP8A2):c.-1016T>A
|
|
|
NM_016529.6(ATP8A2):c.1312A>G (p.Met438Val)
|
rs2039065206
|
|
NM_016529.6(ATP8A2):c.1474C>G (p.Pro492Ala)
|
|
|
NM_016529.6(ATP8A2):c.1669C>T (p.Gln557Ter)
|
|
|
NM_016529.6(ATP8A2):c.1931A>C (p.Lys644Thr)
|
|
|
NM_016529.6(ATP8A2):c.2059G>T (p.Val687Phe)
|
|
|
NM_016529.6(ATP8A2):c.2314G>C (p.Ala772Pro)
|
rs764092726
|
|
NM_016529.6(ATP8A2):c.2473G>C (p.Asp825His)
|
rs796952533
|
|
NM_016529.6(ATP8A2):c.2831C>T (p.Pro944Leu)
|
|
|
NM_016529.6(ATP8A2):c.3273-3C>G
|
rs748588986
|
|
NM_016529.6(ATP8A2):c.743A>G (p.Tyr248Cys)
|
rs200449118
|
|