NM_001352514.2(HLCS):c.1893-46G>T
|
rs2073421
|
0.59296
|
NM_001352514.2(HLCS):c.1438-36G>A
|
rs2073425
|
0.55169
|
NM_001352514.2(HLCS):c.2122-30G>A
|
rs2073420
|
0.40931
|
NM_001352514.2(HLCS):c.*3141_*3142dup
|
rs3031056
|
0.40694
|
NM_000411.7(HLCS):c.-480-12A>G
|
rs115866403
|
0.33322
|
NM_000411.8(HLCS):c.-405T>C
|
rs117476389
|
0.26368
|
NM_000411.7(HLCS):c.-466A>G
|
rs117138955
|
0.25759
|
NM_000411.7(HLCS):c.-471A>G
|
rs118091633
|
0.25745
|
NM_000411.8(HLCS):c.-433C>T
|
rs115711809
|
0.25319
|
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=)
|
rs1065758
|
0.11920
|
NM_001352514.2(HLCS):c.*259T>C
|
rs73398122
|
0.06633
|
NM_001352514.2(HLCS):c.*521C>T
|
rs9967991
|
0.04663
|
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile)
|
rs61732502
|
0.04059
|
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp)
|
rs61732504
|
0.03941
|
NM_001352514.2(HLCS):c.1960+16T>A
|
rs73398135
|
0.03462
|
NM_000411.8(HLCS):c.-393+11G>T
|
rs557368288
|
0.02745
|
NM_001352514.2(HLCS):c.*40A>G
|
rs77014096
|
0.02028
|
NM_001352514.2(HLCS):c.2361C>T (p.Val787=)
|
rs61732507
|
0.02015
|
NM_001352514.2(HLCS):c.*1484A>G
|
rs78926199
|
0.01946
|
NM_001352514.2(HLCS):c.*547C>T
|
rs116526486
|
0.01940
|
NM_001352514.2(HLCS):c.*1744G>A
|
rs117270429
|
0.01206
|
NM_001352514.2(HLCS):c.331-7111G>A
|
rs77067023
|
0.01191
|
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=)
|
rs1065759
|
0.01068
|
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His)
|
rs61732501
|
0.00850
|
NM_001352514.2(HLCS):c.*2624G>A
|
rs73210780
|
0.00769
|
NM_001352514.2(HLCS):c.494-13A>G
|
rs76785742
|
0.00759
|
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg)
|
rs75867009
|
0.00642
|
NM_001352514.2(HLCS):c.726C>T (p.Pro242=)
|
rs2230182
|
0.00587
|
NM_001352514.2(HLCS):c.331-7157C>T
|
rs149104163
|
0.00524
|
NM_001352514.2(HLCS):c.*1725A>G
|
rs73398120
|
0.00399
|
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met)
|
rs150665851
|
0.00392
|
NM_001352514.2(HLCS):c.*3247A>G
|
rs114061673
|
0.00386
|
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=)
|
rs116114362
|
0.00352
|
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)
|
rs149736764
|
0.00315
|
NM_001352514.2(HLCS):c.1893-6C>T
|
rs139904712
|
0.00313
|
NM_001352514.2(HLCS):c.2451-19C>T
|
rs78671947
|
0.00290
|
NM_001352514.2(HLCS):c.*3159_*3162del
|
rs535525635
|
0.00270
|
NM_001352514.2(HLCS):c.*19C>T
|
rs137949852
|
0.00259
|
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=)
|
rs116985497
|
0.00235
|
NM_001352514.2(HLCS):c.900G>A (p.Arg300=)
|
rs146019354
|
0.00232
|
NM_001352514.2(HLCS):c.*590A>G
|
rs148195019
|
0.00207
|
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met)
|
rs112176097
|
0.00191
|
NM_001352514.2(HLCS):c.*1856T>C
|
rs151042283
|
0.00171
|
NM_001352514.2(HLCS):c.1617G>A (p.Ala539=)
|
rs111603166
|
0.00164
|
NM_001352514.2(HLCS):c.*2921A>G
|
rs555149143
|
0.00141
|
NM_001352514.2(HLCS):c.*2243C>T
|
rs554230015
|
0.00140
|
NM_001352514.2(HLCS):c.*3162T>C
|
rs552016201
|
0.00118
|
NM_001352514.2(HLCS):c.*2163A>G
|
rs139776215
|
0.00115
|
NM_001352514.2(HLCS):c.2121+11T>A
|
rs371974889
|
0.00105
|
NM_001352514.2(HLCS):c.*2444C>T
|
rs546201018
|
0.00103
|
NM_001352514.2(HLCS):c.331-7170T>A
|
rs181989786
|
0.00091
|
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=)
|
rs138209330
|
0.00087
|
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile)
|
rs149291867
|
0.00087
|
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln)
|
rs146030669
|
0.00074
|
NM_001352514.2(HLCS):c.331-7076C>T
|
rs541806392
|
0.00061
|
NM_001352514.2(HLCS):c.*2814C>T
|
rs146199781
|
0.00059
|
NM_001352514.2(HLCS):c.*2545C>A
|
rs180866987
|
0.00056
|
NM_001352514.2(HLCS):c.1342G>A (p.Gly448Ser)
|
rs200886053
|
0.00046
|
NM_001352514.2(HLCS):c.215A>T (p.Lys72Met)
|
rs191115811
|
0.00045
|
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser)
|
rs142621386
|
0.00043
|
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu)
|
rs144705277
|
0.00043
|
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His)
|
rs74574054
|
0.00036
|
NM_001352514.2(HLCS):c.1621-12T>C
|
rs367728041
|
0.00032
|
NM_001352514.2(HLCS):c.2544C>T (p.Gly848=)
|
rs142437842
|
0.00032
|
NM_001352514.2(HLCS):c.1422A>G (p.Glu474=)
|
rs189674085
|
0.00030
|
NM_001352514.2(HLCS):c.*2771C>T
|
rs746169122
|
0.00029
|
NM_001352514.2(HLCS):c.*430T>C
|
rs186680398
|
0.00029
|
NM_001352514.2(HLCS):c.*1084C>T
|
rs530869762
|
0.00026
|
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met)
|
rs142524025
|
0.00026
|
NM_001352514.2(HLCS):c.2465A>G (p.His822Arg)
|
rs148868421
|
0.00026
|
NM_001352514.2(HLCS):c.*2541C>T
|
rs184935954
|
0.00025
|
NM_001352514.2(HLCS):c.*1324T>C
|
rs141644229
|
0.00024
|
NM_001352514.2(HLCS):c.1326C>T (p.Pro442=)
|
rs143393390
|
0.00024
|
NM_001352514.2(HLCS):c.674G>A (p.Gly225Asp)
|
rs144238478
|
0.00024
|
NM_001352514.2(HLCS):c.508G>A (p.Asp170Asn)
|
rs149822970
|
0.00022
|
NM_001352514.2(HLCS):c.*1852G>T
|
rs551457805
|
0.00019
|
NM_001352514.2(HLCS):c.*3156A>G
|
rs886738924
|
0.00018
|
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)
|
rs147474255
|
0.00018
|
NM_001352514.2(HLCS):c.*2069T>C
|
rs540511044
|
0.00016
|
NM_001352514.2(HLCS):c.2526C>T (p.Leu842=)
|
rs147256659
|
0.00015
|
NM_001352514.2(HLCS):c.*1273T>A
|
rs565500474
|
0.00014
|
NM_001352514.2(HLCS):c.1474C>A (p.Gln492Lys)
|
rs138844739
|
0.00014
|
NM_001352514.2(HLCS):c.1500C>A (p.Leu500=)
|
rs200631719
|
0.00014
|
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)
|
rs376210604
|
0.00014
|
NM_001352514.2(HLCS):c.294A>C (p.Gln98His)
|
rs751729789
|
0.00014
|
NM_001352514.2(HLCS):c.1330C>T (p.Arg444Trp)
|
rs139902499
|
0.00013
|
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile)
|
rs575286749
|
0.00013
|
NM_001352514.2(HLCS):c.2407C>T (p.Pro803Ser)
|
rs538159086
|
0.00013
|
NM_001352514.2(HLCS):c.*1827C>A
|
rs768653798
|
0.00012
|
NM_001352514.2(HLCS):c.*2555T>C
|
rs79868396
|
0.00012
|
NM_001352514.2(HLCS):c.1938G>A (p.Ala646=)
|
rs370347318
|
0.00012
|
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=)
|
rs148709879
|
0.00012
|
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)
|
rs200453837
|
0.00012
|
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile)
|
rs368124997
|
0.00011
|
NM_001352514.2(HLCS):c.951C>T (p.Ser317=)
|
rs185480832
|
0.00011
|
NM_001352514.2(HLCS):c.*1594A>G
|
rs776064678
|
0.00010
|
NM_001352514.2(HLCS):c.1194C>T (p.Thr398=)
|
rs149877080
|
0.00010
|
NM_001352514.2(HLCS):c.2512G>A (p.Asp838Asn)
|
rs139697458
|
0.00010
|
NM_001352514.2(HLCS):c.462G>A (p.Met154Ile)
|
rs183589811
|
0.00010
|
NM_001352514.2(HLCS):c.703G>A (p.Asp235Asn)
|
rs373951547
|
0.00010
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
NM_001352514.2(HLCS):c.2088C>T (p.Val696=)
|
rs150794567
|
0.00009
|
NM_001352514.2(HLCS):c.2283C>T (p.Asn761=)
|
rs138387445
|
0.00009
|
NM_001352514.2(HLCS):c.2415C>T (p.Ser805=)
|
rs370117126
|
0.00009
|
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys)
|
rs776535574
|
0.00009
|
NM_001352514.2(HLCS):c.*1085G>A
|
rs531457233
|
0.00008
|
NM_001352514.2(HLCS):c.1291G>A (p.Val431Ile)
|
rs376903098
|
0.00008
|
NM_001352514.2(HLCS):c.1923C>T (p.Gly641=)
|
rs746277054
|
0.00008
|
NM_001352514.2(HLCS):c.601G>C (p.Glu201Gln)
|
rs373822815
|
0.00008
|
NM_001352514.2(HLCS):c.*2416C>T
|
rs566088233
|
0.00007
|
NM_001352514.2(HLCS):c.1669G>A (p.Glu557Lys)
|
rs745652723
|
0.00007
|
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile)
|
rs145648338
|
0.00007
|
NM_001352514.2(HLCS):c.816C>T (p.Ala272=)
|
rs376665169
|
0.00007
|
NM_001352514.2(HLCS):c.*168G>T
|
rs118099059
|
0.00006
|
NM_001352514.2(HLCS):c.*3253C>T
|
rs529403596
|
0.00006
|
NM_001352514.2(HLCS):c.1068G>A (p.Pro356=)
|
rs73196003
|
0.00006
|
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=)
|
rs548505968
|
0.00006
|
NM_001352514.2(HLCS):c.1686C>G (p.Ser562=)
|
rs141905941
|
0.00006
|
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=)
|
rs150263699
|
0.00006
|
NM_001352514.2(HLCS):c.2450+7G>C
|
rs373944714
|
0.00006
|
NM_001352514.2(HLCS):c.689G>A (p.Ser230Asn)
|
rs761147008
|
0.00006
|
NM_001352514.2(HLCS):c.988C>T (p.Arg330Trp)
|
rs150431185
|
0.00006
|
NM_001352514.2(HLCS):c.*1756C>T
|
rs748180401
|
0.00005
|
NM_001352514.2(HLCS):c.*1953A>G
|
rs767162730
|
0.00005
|
NM_001352514.2(HLCS):c.*2945C>T
|
rs71332549
|
0.00005
|
NM_001352514.2(HLCS):c.*490C>T
|
rs376741921
|
0.00005
|
NM_001352514.2(HLCS):c.1327G>A (p.Val443Ile)
|
rs200629955
|
0.00005
|
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=)
|
rs759178651
|
0.00005
|
NM_001352514.2(HLCS):c.1910C>T (p.Pro637Leu)
|
rs536067980
|
0.00005
|
NM_001352514.2(HLCS):c.2622A>G (p.Ter874=)
|
rs375809125
|
0.00005
|
NM_001352514.2(HLCS):c.*1089G>A
|
rs146991267
|
0.00004
|
NM_001352514.2(HLCS):c.*1094T>C
|
rs780432651
|
0.00004
|
NM_001352514.2(HLCS):c.*1097G>A
|
rs886057070
|
0.00004
|
NM_001352514.2(HLCS):c.1621-9A>G
|
rs374646852
|
0.00004
|
NM_001352514.2(HLCS):c.1961-7G>C
|
rs145472697
|
0.00004
|
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs)
|
rs766163167
|
0.00004
|
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn)
|
rs149399432
|
0.00004
|
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)
|
rs146448211
|
0.00004
|
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=)
|
rs532108774
|
0.00004
|
NM_001352514.2(HLCS):c.494-9A>G
|
rs376397597
|
0.00004
|
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala)
|
rs200950813
|
0.00004
|
NM_001352514.2(HLCS):c.709G>A (p.Asp237Asn)
|
rs780948465
|
0.00004
|
NM_001352514.2(HLCS):c.910C>T (p.Leu304Phe)
|
rs763508196
|
0.00004
|
NM_001352514.2(HLCS):c.918A>G (p.Gly306=)
|
rs767988985
|
0.00004
|
NM_001352514.2(HLCS):c.*1581T>C
|
rs886057069
|
0.00003
|
NM_001352514.2(HLCS):c.*1761_*1762del
|
rs886057067
|
0.00003
|
NM_001352514.2(HLCS):c.*334A>G
|
rs886057073
|
0.00003
|
NM_001352514.2(HLCS):c.*779A>T
|
rs886057072
|
0.00003
|
NM_001352514.2(HLCS):c.*985C>A
|
rs886057071
|
0.00003
|
NM_001352514.2(HLCS):c.1119C>T (p.Pro373=)
|
rs768927843
|
0.00003
|
NM_001352514.2(HLCS):c.1122A>C (p.Glu374Asp)
|
rs780469041
|
0.00003
|
NM_001352514.2(HLCS):c.1237A>C (p.Thr413Pro)
|
rs747122714
|
0.00003
|
NM_001352514.2(HLCS):c.1480C>T (p.Pro494Ser)
|
rs556454789
|
0.00003
|
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=)
|
rs147495853
|
0.00003
|
NM_001352514.2(HLCS):c.1911G>A (p.Pro637=)
|
rs775832153
|
0.00003
|
NM_001352514.2(HLCS):c.1935C>T (p.Ile645=)
|
rs749728724
|
0.00003
|
NM_001352514.2(HLCS):c.1960+5G>A
|
rs753887925
|
0.00003
|
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)
|
rs119103229
|
0.00003
|
NM_001352514.2(HLCS):c.206A>G (p.Asp69Gly)
|
rs886057080
|
0.00003
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
NM_001352514.2(HLCS):c.2181C>T (p.Ile727=)
|
rs375456567
|
0.00003
|
NM_001352514.2(HLCS):c.2184C>T (p.Gly728=)
|
rs370277326
|
0.00003
|
NM_001352514.2(HLCS):c.2332T>G (p.Leu778Val)
|
rs199517800
|
0.00003
|
NM_001352514.2(HLCS):c.2451-8C>G
|
rs373177254
|
0.00003
|
NM_001352514.2(HLCS):c.2511C>T (p.Asp837=)
|
rs761596791
|
0.00003
|
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn)
|
rs140014588
|
0.00003
|
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu)
|
rs534858065
|
0.00003
|
NM_001352514.2(HLCS):c.841G>A (p.Asp281Asn)
|
rs148426470
|
0.00003
|
NM_001352514.2(HLCS):c.885C>T (p.Pro295=)
|
rs139989284
|
0.00003
|
NM_001352514.2(HLCS):c.*1071G>A
|
rs987334114
|
0.00002
|
NM_001352514.2(HLCS):c.*14C>T
|
rs778616712
|
0.00002
|
NM_001352514.2(HLCS):c.1290C>T (p.Ser430=)
|
rs1472760580
|
0.00002
|
NM_001352514.2(HLCS):c.1341C>T (p.Pro447=)
|
rs543680851
|
0.00002
|
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)
|
rs769499327
|
0.00002
|
NM_001352514.2(HLCS):c.1548A>G (p.Thr516=)
|
rs144016759
|
0.00002
|
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)
|
rs781603756
|
0.00002
|
NM_001352514.2(HLCS):c.1810C>T (p.Arg604Cys)
|
rs547391411
|
0.00002
|
NM_001352514.2(HLCS):c.1875G>A (p.Thr625=)
|
rs776800808
|
0.00002
|
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn)
|
rs773398782
|
0.00002
|
NM_001352514.2(HLCS):c.2036C>A (p.Ser679Tyr)
|
rs777373322
|
0.00002
|
NM_001352514.2(HLCS):c.2130C>T (p.Asn710=)
|
rs748819971
|
0.00002
|
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter)
|
rs772791252
|
0.00002
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
NM_001352514.2(HLCS):c.2237-12G>C
|
rs1487390204
|
0.00002
|
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=)
|
rs760265551
|
0.00002
|
NM_001352514.2(HLCS):c.2349C>T (p.Leu783=)
|
rs138952612
|
0.00002
|
NM_001352514.2(HLCS):c.2476G>A (p.Ala826Thr)
|
rs376898721
|
0.00002
|
NM_001352514.2(HLCS):c.2545G>A (p.Gly849Ser)
|
rs773752745
|
0.00002
|
NM_001352514.2(HLCS):c.2548G>A (p.Glu850Lys)
|
rs145337682
|
0.00002
|
NM_001352514.2(HLCS):c.477A>C (p.Val159=)
|
rs779019472
|
0.00002
|
NM_001352514.2(HLCS):c.519G>C (p.Leu173=)
|
rs142669894
|
0.00002
|
NM_001352514.2(HLCS):c.941A>G (p.Tyr314Cys)
|
rs778638155
|
0.00002
|
NM_000411.8(HLCS):c.-393+7C>T
|
rs886057081
|
0.00001
|
NM_001352514.2(HLCS):c.*1766G>A
|
rs537534748
|
0.00001
|
NM_001352514.2(HLCS):c.*2434G>T
|
rs886057062
|
0.00001
|
NM_001352514.2(HLCS):c.*2700C>T
|
rs140135359
|
0.00001
|
NM_001352514.2(HLCS):c.*2847G>A
|
rs1269300334
|
0.00001
|
NM_001352514.2(HLCS):c.*3043A>G
|
rs539444862
|
0.00001
|
NM_001352514.2(HLCS):c.*3209C>T
|
rs886057059
|
0.00001
|
NM_001352514.2(HLCS):c.*448G>C
|
rs772947158
|
0.00001
|
NM_001352514.2(HLCS):c.1083T>C (p.Cys361=)
|
rs568871363
|
0.00001
|
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)
|
rs28934602
|
0.00001
|
NM_001352514.2(HLCS):c.1096dup (p.Ile366fs)
|
rs773102942
|
0.00001
|
NM_001352514.2(HLCS):c.1101T>C (p.Ala367=)
|
rs773020648
|
0.00001
|
NM_001352514.2(HLCS):c.1164G>A (p.Gly388=)
|
rs765979436
|
0.00001
|
NM_001352514.2(HLCS):c.1179G>A (p.Leu393=)
|
rs1395979008
|
0.00001
|
NM_001352514.2(HLCS):c.1188C>T (p.Ser396=)
|
rs1188065092
|
0.00001
|
NM_001352514.2(HLCS):c.1192A>G (p.Thr398Ala)
|
rs1259711297
|
0.00001
|
NM_001352514.2(HLCS):c.1227A>C (p.Ala409=)
|
rs776771975
|
0.00001
|
NM_001352514.2(HLCS):c.1242C>G (p.Val414=)
|
rs772203778
|
0.00001
|
NM_001352514.2(HLCS):c.1328T>G (p.Val443Gly)
|
rs778061862
|
0.00001
|
NM_001352514.2(HLCS):c.1369G>A (p.Glu457Lys)
|
rs763927037
|
0.00001
|
NM_001352514.2(HLCS):c.1371G>A (p.Glu457=)
|
rs760694310
|
0.00001
|
NM_001352514.2(HLCS):c.1395T>C (p.His465=)
|
rs2066885260
|
0.00001
|
NM_001352514.2(HLCS):c.1413C>T (p.Arg471=)
|
rs533602689
|
0.00001
|
NM_001352514.2(HLCS):c.1425T>C (p.Ala475=)
|
rs1034237557
|
0.00001
|
NM_001352514.2(HLCS):c.1437+7A>G
|
rs1240794985
|
0.00001
|
NM_001352514.2(HLCS):c.1524C>T (p.Tyr508=)
|
rs772808561
|
0.00001
|
NM_001352514.2(HLCS):c.1596T>G (p.Pro532=)
|
rs201862206
|
0.00001
|
NM_001352514.2(HLCS):c.1621-2A>G
|
rs750728042
|
0.00001
|
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)
|
rs148814769
|
0.00001
|
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser)
|
rs1261821166
|
0.00001
|
NM_001352514.2(HLCS):c.1863G>A (p.Val621=)
|
rs762642801
|
0.00001
|
NM_001352514.2(HLCS):c.1893-9C>G
|
rs761781683
|
0.00001
|
NM_001352514.2(HLCS):c.1908A>T (p.Thr636=)
|
rs1369860703
|
0.00001
|
NM_001352514.2(HLCS):c.1918A>G (p.Met640Val)
|
rs772156741
|
0.00001
|
NM_001352514.2(HLCS):c.1943G>A (p.Arg648Gln)
|
rs886057076
|
0.00001
|
NM_001352514.2(HLCS):c.1951G>A (p.Glu651Lys)
|
rs1035549573
|
0.00001
|
NM_001352514.2(HLCS):c.2034A>G (p.Arg678=)
|
rs945618984
|
0.00001
|
NM_001352514.2(HLCS):c.2058G>A (p.Pro686=)
|
rs556886743
|
0.00001
|
NM_001352514.2(HLCS):c.2076G>A (p.Met692Ile)
|
rs1460453809
|
0.00001
|
NM_001352514.2(HLCS):c.2135G>A (p.Arg712Gln)
|
rs769446135
|
0.00001
|
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)
|
rs119103230
|
0.00001
|
NM_001352514.2(HLCS):c.2208C>T (p.Leu736=)
|
rs764487201
|
0.00001
|
NM_001352514.2(HLCS):c.2225A>G (p.Tyr742Cys)
|
rs1464046978
|
0.00001
|
NM_001352514.2(HLCS):c.2266C>T (p.Pro756Ser)
|
rs1285498636
|
0.00001
|
NM_001352514.2(HLCS):c.2313C>G (p.His771Gln)
|
rs1376040224
|
0.00001
|
NM_001352514.2(HLCS):c.2339C>T (p.Ala780Val)
|
rs763760775
|
0.00001
|
NM_001352514.2(HLCS):c.2346T>C (p.Tyr782=)
|
rs367725468
|
0.00001
|
NM_001352514.2(HLCS):c.2361_2362insT (p.Val788fs)
|
rs760372711
|
0.00001
|
NM_001352514.2(HLCS):c.2371C>G (p.Leu791Val)
|
rs748447457
|
0.00001
|
NM_001352514.2(HLCS):c.2418C>G (p.Val806=)
|
rs759416272
|
0.00001
|
NM_001352514.2(HLCS):c.2443G>A (p.Val815Ile)
|
rs144116568
|
0.00001
|
NM_001352514.2(HLCS):c.2451-1G>A
|
rs1158898827
|
0.00001
|
NM_001352514.2(HLCS):c.2463C>A (p.Val821=)
|
rs779439814
|
0.00001
|
NM_001352514.2(HLCS):c.2485C>A (p.Pro829Thr)
|
rs1417729542
|
0.00001
|
NM_001352514.2(HLCS):c.2505C>A (p.Gly835=)
|
rs199936080
|
0.00001
|
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala)
|
rs764148793
|
0.00001
|
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter)
|
rs1466111134
|
0.00001
|
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)
|
rs1260631800
|
0.00001
|
NM_001352514.2(HLCS):c.2568G>A (p.Pro856=)
|
rs745670538
|
0.00001
|
NM_001352514.2(HLCS):c.2571C>T (p.Asp857=)
|
rs202028605
|
0.00001
|
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)
|
rs752737867
|
0.00001
|
NM_001352514.2(HLCS):c.2601C>A (p.Leu867=)
|
rs372467001
|
0.00001
|
NM_001352514.2(HLCS):c.442A>G (p.Met148Val)
|
rs764841449
|
0.00001
|
NM_001352514.2(HLCS):c.445G>A (p.Glu149Lys)
|
rs148981273
|
0.00001
|
NM_001352514.2(HLCS):c.456C>A (p.Leu152=)
|
rs778232930
|
0.00001
|
NM_001352514.2(HLCS):c.494-8T>A
|
rs778287214
|
0.00001
|
NM_001352514.2(HLCS):c.498G>A (p.Val166=)
|
rs2066944593
|
0.00001
|
NM_001352514.2(HLCS):c.500A>G (p.His167Arg)
|
rs577182758
|
0.00001
|
NM_001352514.2(HLCS):c.513C>T (p.Ser171=)
|
rs755797089
|
0.00001
|
NM_001352514.2(HLCS):c.529A>G (p.Lys177Glu)
|
rs759396333
|
0.00001
|
NM_001352514.2(HLCS):c.540C>T (p.Val180=)
|
rs574644351
|
0.00001
|
NM_001352514.2(HLCS):c.570G>A (p.Pro190=)
|
rs780666266
|
0.00001
|
NM_001352514.2(HLCS):c.585T>C (p.Ser195=)
|
rs1379810424
|
0.00001
|
NM_001352514.2(HLCS):c.609C>T (p.Asp203=)
|
rs370118884
|
0.00001
|
NM_001352514.2(HLCS):c.621T>C (p.His207=)
|
rs1323740370
|
0.00001
|
NM_001352514.2(HLCS):c.681C>T (p.Ala227=)
|
rs768745299
|
0.00001
|
NM_001352514.2(HLCS):c.696T>C (p.Pro232=)
|
rs200877859
|
0.00001
|
NM_001352514.2(HLCS):c.712_713del (p.Arg238fs)
|
rs1284747916
|
0.00001
|
NM_001352514.2(HLCS):c.723C>A (p.Gly241=)
|
rs886057077
|
0.00001
|
NM_001352514.2(HLCS):c.744C>G (p.Leu248=)
|
rs764416032
|
0.00001
|
NM_001352514.2(HLCS):c.762C>T (p.His254=)
|
rs775946159
|
0.00001
|
NM_001352514.2(HLCS):c.790A>G (p.Ile264Val)
|
rs1342427477
|
0.00001
|
NM_001352514.2(HLCS):c.810G>A (p.Ala270=)
|
rs747702795
|
0.00001
|
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=)
|
rs779907293
|
0.00001
|
NM_001352514.2(HLCS):c.861G>A (p.Glu287=)
|
rs1410993144
|
0.00001
|
NM_001352514.2(HLCS):c.969C>T (p.Leu323=)
|
rs1458636068
|
0.00001
|
NM_001352514.2(HLCS):c.970G>A (p.Gly324Ser)
|
rs574778377
|
0.00001
|
NM_001352514.2(HLCS):c.981C>T (p.His327=)
|
rs773664058
|
0.00001
|
NM_001352514.2(HLCS):c.996G>A (p.Val332=)
|
rs745472061
|
0.00001
|
NC_000021.8:g.(?_37133458)_(38311203_?)dup
|
|
|
NC_000021.8:g.(?_37707582)_(38139606_?)del
|
|
|
NC_000021.8:g.(?_38126547)_(38139606_?)del
|
|
|
NC_000021.8:g.(?_38128823)_(38139606_?)del
|
|
|
NC_000021.8:g.(?_38132018)_(38362704_?)del
|
|
|
NC_000021.8:g.(?_38269140)_(38269451_?)del
|
|
|
NC_000021.8:g.(?_38269140)_(38311203_?)del
|
|
|
NC_000021.8:g.(?_38269150)_(38269441_?)del
|
|
|
NC_000021.8:g.(?_38302531)_(38302753_?)del
|
|
|
NC_000021.8:g.(?_38302541)_(38311304_?)del
|
|
|
NC_000021.9:g.(?_36765002)_(36767295_?)del
|
|
|
NC_000021.9:g.(?_36930231)_(36930453_?)dup
|
|
|
NC_000021.9:g.(?_36938822)_(36939004_?)del
|
|
|
NM_000411.8(HLCS):c.-393+2558C>T
|
|
|
NM_000411.8(HLCS):c.1681dup
|
|
|
NM_001352514.2(HLCS):c.*1206C>A
|
rs73902720
|
|
NM_001352514.2(HLCS):c.*1589CAAA[2]
|
rs201997019
|
|
NM_001352514.2(HLCS):c.*1614dup
|
rs886057068
|
|
NM_001352514.2(HLCS):c.*1997G>A
|
rs886057066
|
|
NM_001352514.2(HLCS):c.*2023G>A
|
rs886057065
|
|
NM_001352514.2(HLCS):c.*2267G>T
|
rs886057064
|
|
NM_001352514.2(HLCS):c.*2285G>A
|
rs886057063
|
|
NM_001352514.2(HLCS):c.*2622G>A
|
rs14407
|
|
NM_001352514.2(HLCS):c.*2647T>A
|
rs2089366675
|
|
NM_001352514.2(HLCS):c.*270dup
|
rs886057074
|
|
NM_001352514.2(HLCS):c.*2952CT[1]
|
rs886057061
|
|
NM_001352514.2(HLCS):c.*3050A>G
|
rs2089352875
|
|
NM_001352514.2(HLCS):c.*305T>C
|
rs2089455426
|
|
NM_001352514.2(HLCS):c.*3161G>T
|
rs886057060
|
|
NM_001352514.2(HLCS):c.*3162T>A
|
rs552016201
|
|
NM_001352514.2(HLCS):c.*3175A>G
|
rs2089348881
|
|
NM_001352514.2(HLCS):c.*3226del
|
rs35955622
|
|
NM_001352514.2(HLCS):c.*3226dup
|
rs35955622
|
|
NM_001352514.2(HLCS):c.*7_*9del
|
rs201681436
|
|
NM_001352514.2(HLCS):c.1003G>A (p.Asp335Asn)
|
|
|
NM_001352514.2(HLCS):c.1011G>A (p.Val337=)
|
|
|
NM_001352514.2(HLCS):c.1016_1017del (p.Ile339fs)
|
|
|
NM_001352514.2(HLCS):c.1017T>C (p.Ile339=)
|
|
|
NM_001352514.2(HLCS):c.1025dup (p.Tyr342Ter)
|
rs1601803431
|
|
NM_001352514.2(HLCS):c.1026T>C (p.Tyr342=)
|
|
|
NM_001352514.2(HLCS):c.1029T>C (p.Ile343=)
|
|
|
NM_001352514.2(HLCS):c.1030C>T (p.Leu344Phe)
|
|
|
NM_001352514.2(HLCS):c.1032C>A (p.Leu344=)
|
rs2066910824
|
|
NM_001352514.2(HLCS):c.1035C>T (p.Tyr345=)
|
|
|
NM_001352514.2(HLCS):c.1041del (p.Leu348fs)
|
|
|
NM_001352514.2(HLCS):c.1044G>A (p.Leu348=)
|
|
|
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)
|
rs148324626
|
|
NM_001352514.2(HLCS):c.1045del (p.Glu349fs)
|
|
|
NM_001352514.2(HLCS):c.1058T>C (p.Leu353Pro)
|
|
|
NM_001352514.2(HLCS):c.1059C>G (p.Leu353=)
|
rs765699943
|
|
NM_001352514.2(HLCS):c.1063_1064del (p.Asp355fs)
|
|
|
NM_001352514.2(HLCS):c.1065C>T (p.Asp355=)
|
|
|
NM_001352514.2(HLCS):c.1068G>C (p.Pro356=)
|
|
|
NM_001352514.2(HLCS):c.1077C>T (p.Asp359=)
|
|
|
NM_001352514.2(HLCS):c.1081T>C (p.Cys361Arg)
|
|
|
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
|
|
|
NM_001352514.2(HLCS):c.1084C>T (p.Leu362=)
|
rs1459880908
|
|
NM_001352514.2(HLCS):c.1091T>A (p.Leu364Ter)
|
|
|
NM_001352514.2(HLCS):c.1093G>T (p.Val365Phe)
|
rs1569216588
|
|
NM_001352514.2(HLCS):c.1102A>C (p.Thr368Pro)
|
|
|
NM_001352514.2(HLCS):c.1104C>G (p.Thr368=)
|
|
|
NM_001352514.2(HLCS):c.1107G>A (p.Arg369=)
|
rs2146525599
|
|
NM_001352514.2(HLCS):c.1110G>A (p.Glu370=)
|
|
|
NM_001352514.2(HLCS):c.1119C>A (p.Pro373=)
|
|
|
NM_001352514.2(HLCS):c.1119C>G (p.Pro373=)
|
rs768927843
|
|
NM_001352514.2(HLCS):c.1122A>G (p.Glu374=)
|
rs780469041
|
|
NM_001352514.2(HLCS):c.1123G>C (p.Asp375His)
|
|
|
NM_001352514.2(HLCS):c.1126C>T (p.Leu376=)
|
rs1450990152
|
|
NM_001352514.2(HLCS):c.1128G>A (p.Leu376=)
|
rs1199413324
|
|
NM_001352514.2(HLCS):c.1132C>G (p.Gln378Glu)
|
|
|
NM_001352514.2(HLCS):c.1132C>T (p.Gln378Ter)
|
rs1481968221
|
|
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
|
|
|
NM_001352514.2(HLCS):c.1134G>A (p.Gln378=)
|
|
|
NM_001352514.2(HLCS):c.1137G>A (p.Lys379=)
|
|
|
NM_001352514.2(HLCS):c.1140C>T (p.Phe380=)
|
rs2066903072
|
|
NM_001352514.2(HLCS):c.1148A>G (p.Tyr383Cys)
|
|
|
NM_001352514.2(HLCS):c.1150C>A (p.Leu384Ile)
|
rs538157231
|
|
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)
|
rs119103227
|
|
NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg)
|
rs119103227
|
|
NM_001352514.2(HLCS):c.1156C>T (p.Gln386Ter)
|
rs2146525207
|
|
NM_001352514.2(HLCS):c.1161A>G (p.Gly387=)
|
|
|
NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala)
|
rs1057516035
|
|
NM_001352514.2(HLCS):c.1167G>A (p.Lys389=)
|
rs1057523540
|
|
NM_001352514.2(HLCS):c.1182T>C (p.Ser394=)
|
|
|
NM_001352514.2(HLCS):c.1185A>G (p.Ser395=)
|
rs979308593
|
|
NM_001352514.2(HLCS):c.1185A>T (p.Ser395=)
|
rs979308593
|
|
NM_001352514.2(HLCS):c.1194C>G (p.Thr398=)
|
|
|
NM_001352514.2(HLCS):c.1197T>C (p.Phe399=)
|
|
|
NM_001352514.2(HLCS):c.1210del (p.Gln403_Val404insTer)
|
|
|
NM_001352514.2(HLCS):c.1218C>T (p.Ser406=)
|
|
|
NM_001352514.2(HLCS):c.1219_1222dup (p.Gly408fs)
|
|
|
NM_001352514.2(HLCS):c.1223del (p.Gly408fs)
|
rs771944310
|
|
NM_001352514.2(HLCS):c.1223dup (p.Ala409fs)
|
|
|
NM_001352514.2(HLCS):c.1230G>A (p.Leu410=)
|
|
|
NM_001352514.2(HLCS):c.1233C>A (p.His411Gln)
|
rs1601802008
|
|
NM_001352514.2(HLCS):c.1242C>A (p.Val414=)
|
|
|
NM_001352514.2(HLCS):c.1242C>T (p.Val414=)
|
|
|
NM_001352514.2(HLCS):c.1249T>C (p.Leu417=)
|
rs535891229
|
|
NM_001352514.2(HLCS):c.1250T>A (p.Leu417Ter)
|
rs2066894484
|
|
NM_001352514.2(HLCS):c.1257C>T (p.Phe419=)
|
rs757706257
|
|
NM_001352514.2(HLCS):c.1260C>T (p.Ser420=)
|
rs2146524449
|
|
NM_001352514.2(HLCS):c.1264G>A (p.Ala422Thr)
|
|
|
NM_001352514.2(HLCS):c.1266T>C (p.Ala422=)
|
rs2146524399
|
|
NM_001352514.2(HLCS):c.1275_1283delinsTGAGCACT (p.Val427fs)
|
|
|
NM_001352514.2(HLCS):c.1276G>A (p.Glu426Lys)
|
|
|
NM_001352514.2(HLCS):c.1276G>T (p.Glu426Ter)
|
|
|
NM_001352514.2(HLCS):c.1284G>A (p.Lys428=)
|
|
|
NM_001352514.2(HLCS):c.1287C>T (p.Leu429=)
|
|
|
NM_001352514.2(HLCS):c.1289del (p.Ser430fs)
|
|
|
NM_001352514.2(HLCS):c.1295T>C (p.Leu432Ser)
|
|
|
NM_001352514.2(HLCS):c.1302T>C (p.Ser434=)
|
rs2146524204
|
|
NM_001352514.2(HLCS):c.1302_1303insC (p.Gly435fs)
|
|
|
NM_001352514.2(HLCS):c.1312T>C (p.Tyr438His)
|
|
|
NM_001352514.2(HLCS):c.1314C>T (p.Tyr438=)
|
rs2066890502
|
|
NM_001352514.2(HLCS):c.1315del (p.Gln439fs)
|
|
|
NM_001352514.2(HLCS):c.1323C>A (p.Gly441=)
|
|
|
NM_001352514.2(HLCS):c.1324C>G (p.Pro442Ala)
|
|
|
NM_001352514.2(HLCS):c.1326C>A (p.Pro442=)
|
|
|
NM_001352514.2(HLCS):c.1326del (p.Val443fs)
|
|
|
NM_001352514.2(HLCS):c.1330C>A (p.Arg444=)
|
rs139902499
|
|
NM_001352514.2(HLCS):c.1332G>C (p.Arg444=)
|
rs2146523893
|
|
NM_001352514.2(HLCS):c.1332G>T (p.Arg444=)
|
|
|
NM_001352514.2(HLCS):c.1342G>C (p.Gly448Arg)
|
|
|
NM_001352514.2(HLCS):c.1351C>T (p.Gln451Ter)
|
|
|
NM_001352514.2(HLCS):c.1356C>T (p.Gly452=)
|
rs756934917
|
|
NM_001352514.2(HLCS):c.1358_1359del (p.His453fs)
|
|
|
NM_001352514.2(HLCS):c.1359C>T (p.His453=)
|
|
|
NM_001352514.2(HLCS):c.1374C>T (p.Asp458=)
|
rs771883068
|
|
NM_001352514.2(HLCS):c.1392G>C (p.Val464=)
|
|
|
NM_001352514.2(HLCS):c.1404del (p.Phe468fs)
|
|
|
NM_001352514.2(HLCS):c.1413C>A (p.Arg471=)
|
rs533602689
|
|
NM_001352514.2(HLCS):c.1414G>A (p.Gly472Arg)
|
rs748444836
|
|
NM_001352514.2(HLCS):c.1414G>C (p.Gly472Arg)
|
rs748444836
|
|
NM_001352514.2(HLCS):c.1414G>T (p.Gly472Trp)
|
|
|
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs)
|
rs1555955827
|
|
NM_001352514.2(HLCS):c.1419A>G (p.Gly473=)
|
|
|
NM_001352514.2(HLCS):c.1425T>G (p.Ala475=)
|
|
|
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter)
|
rs2066882139
|
|
NM_001352514.2(HLCS):c.1436A>G (p.Gln479Arg)
|
rs899013389
|
|
NM_001352514.2(HLCS):c.1437+10G>A
|
|
|
NM_001352514.2(HLCS):c.1437+13G>T
|
|
|
NM_001352514.2(HLCS):c.1437+14C>T
|
|
|
NM_001352514.2(HLCS):c.1437+15A>G
|
|
|
NM_001352514.2(HLCS):c.1437+1G>A
|
|
|
NM_001352514.2(HLCS):c.1437+20T>A
|
|
|
NM_001352514.2(HLCS):c.1437+8G>A
|
rs777565665
|
|
NM_001352514.2(HLCS):c.1438-17C>T
|
|
|
NM_001352514.2(HLCS):c.1438-1G>C
|
|
|
NM_001352514.2(HLCS):c.1438-6C>T
|
|
|
NM_001352514.2(HLCS):c.1438G>T (p.Val480Leu)
|
|
|
NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu)
|
rs1198548955
|
|
NM_001352514.2(HLCS):c.1444_1456delinsATAGTGCAAACTCCAACATAGTGCAAACT (p.Leu482_Pro486delinsIleValGlnThrProThrTer)
|
|
|
NM_001352514.2(HLCS):c.1445dup (p.Leu482fs)
|
|
|
NM_001352514.2(HLCS):c.1450C>T (p.Leu484=)
|
|
|
NM_001352514.2(HLCS):c.1452A>C (p.Leu484=)
|
|
|
NM_001352514.2(HLCS):c.1458C>T (p.Pro486=)
|
|
|
NM_001352514.2(HLCS):c.1466_1472delinsGCA (p.Asn489fs)
|
|
|
NM_001352514.2(HLCS):c.1467C>T (p.Asn489=)
|
|
|
NM_001352514.2(HLCS):c.1471del (p.Val491fs)
|
|
|
NM_001352514.2(HLCS):c.1473G>T (p.Val491=)
|
rs367611748
|
|
NM_001352514.2(HLCS):c.1482A>G (p.Pro494=)
|
rs2066584824
|
|
NM_001352514.2(HLCS):c.1494dup (p.Leu500fs)
|
|
|
NM_001352514.2(HLCS):c.1496T>A (p.Leu499Ter)
|
rs1601779091
|
|
NM_001352514.2(HLCS):c.1505C>G (p.Ser502Ter)
|
|
|
NM_001352514.2(HLCS):c.1509C>T (p.Ser503=)
|
|
|
NM_001352514.2(HLCS):c.1524C>G (p.Tyr508Ter)
|
|
|
NM_001352514.2(HLCS):c.1535G>A (p.Arg512Lys)
|
rs747688148
|
|
NM_001352514.2(HLCS):c.1535G>C (p.Arg512Thr)
|
|
|
NM_001352514.2(HLCS):c.1537_1540del (p.Glu513fs)
|
|
|
NM_001352514.2(HLCS):c.1543del (p.Ile514_Leu515insTer)
|
rs1288789420
|
|
NM_001352514.2(HLCS):c.1550_1551insT (p.Leu518fs)
|
|
|
NM_001352514.2(HLCS):c.1551C>A (p.Thr517=)
|
rs138442090
|
|
NM_001352514.2(HLCS):c.1551C>G (p.Thr517=)
|
|
|
NM_001352514.2(HLCS):c.1551C>T (p.Thr517=)
|
|
|
NM_001352514.2(HLCS):c.1552del (p.Gly519fs)
|
rs1569206815
|
|
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)
|
rs1393866282
|
|
NM_001352514.2(HLCS):c.1581T>G (p.Val527=)
|
|
|
NM_001352514.2(HLCS):c.1599_1600del (p.Tyr534fs)
|
|
|
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)
|
|
|
NM_001352514.2(HLCS):c.1608G>A (p.Leu536=)
|
|
|
NM_001352514.2(HLCS):c.1608G>T (p.Leu536=)
|
|
|
NM_001352514.2(HLCS):c.1610C>A (p.Ser537Ter)
|
|
|
NM_001352514.2(HLCS):c.1610C>G (p.Ser537Ter)
|
|
|
NM_001352514.2(HLCS):c.1612G>A (p.Ala538Thr)
|
|
|
NM_001352514.2(HLCS):c.1620+15C>G
|
|
|
NM_001352514.2(HLCS):c.1620+17G>A
|
|
|
NM_001352514.2(HLCS):c.1620+1G>A
|
rs1555951858
|
|
NM_001352514.2(HLCS):c.1620+7T>G
|
|
|
NM_001352514.2(HLCS):c.1620+7del
|
rs140568778
|
|
NM_001352514.2(HLCS):c.1620+8G>A
|
rs1569206652
|
|
NM_001352514.2(HLCS):c.1620+9T>G
|
rs2146492738
|
|
NM_001352514.2(HLCS):c.1620+9del
|
|
|
NM_001352514.2(HLCS):c.1621-11T>C
|
|
|
NM_001352514.2(HLCS):c.1621-13_1621-10del
|
rs377641674
|
|
NM_001352514.2(HLCS):c.1621-19T>A
|
|
|
NM_001352514.2(HLCS):c.1621-1G>C
|
rs1164174059
|
|
NM_001352514.2(HLCS):c.1621-2A>T
|
|
|
NM_001352514.2(HLCS):c.1621-8T>C
|
|
|
NM_001352514.2(HLCS):c.1627A>C (p.Arg543=)
|
rs2146336527
|
|
NM_001352514.2(HLCS):c.1627_1628del (p.Arg543fs)
|
rs2146336516
|
|
NM_001352514.2(HLCS):c.1629G>A (p.Arg543=)
|
rs1344897387
|
|
NM_001352514.2(HLCS):c.1631A>T (p.Asp544Val)
|
|
|
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
|
|
|
NM_001352514.2(HLCS):c.1631dup (p.Asp544fs)
|
|
|
NM_001352514.2(HLCS):c.1632T>C (p.Asp544=)
|
rs2146336458
|
|
NM_001352514.2(HLCS):c.1634del (p.Pro545fs)
|
rs2146336447
|
|
NM_001352514.2(HLCS):c.1635T>G (p.Pro545=)
|
rs2146336432
|
|
NM_001352514.2(HLCS):c.1642C>T (p.Gln548Ter)
|
rs2065045000
|
|
NM_001352514.2(HLCS):c.1644G>A (p.Gln548=)
|
rs1366041798
|
|
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)
|
rs1342457304
|
|
NM_001352514.2(HLCS):c.1658A>G (p.His553Arg)
|
rs2146336242
|
|
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
|
|
|
NM_001352514.2(HLCS):c.1659T>C (p.His553=)
|
|
|
NM_001352514.2(HLCS):c.1665C>T (p.Asp555=)
|
|
|
NM_001352514.2(HLCS):c.1668C>A (p.Ser556=)
|
rs771923409
|
|
NM_001352514.2(HLCS):c.1668C>T (p.Ser556=)
|
rs771923409
|
|
NM_001352514.2(HLCS):c.1683A>G (p.Lys561=)
|
rs2146336131
|
|
NM_001352514.2(HLCS):c.1685C>A (p.Ser562Tyr)
|
rs770873445
|
|
NM_001352514.2(HLCS):c.1686C>T (p.Ser562=)
|
rs141905941
|
|
NM_001352514.2(HLCS):c.1689C>A (p.Gly563=)
|
|
|
NM_001352514.2(HLCS):c.1695C>G (p.Leu565=)
|
rs138209330
|
|
NM_001352514.2(HLCS):c.1697C>G (p.Ser566Cys)
|
|
|
NM_001352514.2(HLCS):c.1698T>G (p.Ser566=)
|
rs2146335962
|
|
NM_001352514.2(HLCS):c.1698_1701del (p.Leu567fs)
|
rs2065041493
|
|
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer)
|
rs1555930523
|
|
NM_001352514.2(HLCS):c.1705_1733dup (p.Glu578delinsAspLeuPheHisProThrCysLeuLysTer)
|
|
|
NM_001352514.2(HLCS):c.1719C>A (p.Tyr573Ter)
|
rs148814769
|
|
NM_001352514.2(HLCS):c.1721T>A (p.Val574Glu)
|
|
|
NM_001352514.2(HLCS):c.1722G>A (p.Val574=)
|
|
|
NM_001352514.2(HLCS):c.1740C>G (p.Thr580=)
|
|
|
NM_001352514.2(HLCS):c.1741C>T (p.Pro581Ser)
|
|
|
NM_001352514.2(HLCS):c.1743A>G (p.Pro581=)
|
|
|
NM_001352514.2(HLCS):c.1752_1759delinsTTT (p.Pro585fs)
|
|
|
NM_001352514.2(HLCS):c.1759_1760insCC (p.Val587fs)
|
|
|
NM_001352514.2(HLCS):c.1764C>G (p.Thr588=)
|
rs2146335640
|
|
NM_001352514.2(HLCS):c.1767C>T (p.Asn589=)
|
|
|
NM_001352514.2(HLCS):c.1769dup (p.Met590fs)
|
|
|
NM_001352514.2(HLCS):c.1771G>T (p.Glu591Ter)
|
rs2065038117
|
|
NM_001352514.2(HLCS):c.1773G>A (p.Glu591=)
|
rs771694153
|
|
NM_001352514.2(HLCS):c.1774G>A (p.Ala592Thr)
|
rs987805504
|
|
NM_001352514.2(HLCS):c.1781C>G (p.Ser594Ter)
|
rs973578825
|
|
NM_001352514.2(HLCS):c.1781C>T (p.Ser594Leu)
|
rs973578825
|
|
NM_001352514.2(HLCS):c.1782A>C (p.Ser594=)
|
|
|
NM_001352514.2(HLCS):c.1794C>T (p.Phe598=)
|
rs1601665712
|
|
NM_001352514.2(HLCS):c.1797C>T (p.Asn599=)
|
rs2146335404
|
|
NM_001352514.2(HLCS):c.1799T>G (p.Leu600Ter)
|
|
|
NM_001352514.2(HLCS):c.1800A>G (p.Leu600=)
|
|
|
NM_001352514.2(HLCS):c.1806C>T (p.Ile602=)
|
rs1240730503
|
|
NM_001352514.2(HLCS):c.1812C>T (p.Arg604=)
|
|
|
NM_001352514.2(HLCS):c.1819C>T (p.Leu607=)
|
|
|
NM_001352514.2(HLCS):c.1827C>T (p.Thr609=)
|
|
|
NM_001352514.2(HLCS):c.1830G>A (p.Lys610=)
|
|
|
NM_001352514.2(HLCS):c.1831C>T (p.Gln611Ter)
|
|
|
NM_001352514.2(HLCS):c.1833G>A (p.Gln611=)
|
|
|
NM_001352514.2(HLCS):c.1834T>C (p.Leu612=)
|
|
|
NM_001352514.2(HLCS):c.1851G>A (p.Leu617=)
|
rs760230537
|
|
NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly)
|
rs767190021
|
|
NM_001352514.2(HLCS):c.1857C>T (p.Ala619=)
|
rs759178651
|
|
NM_001352514.2(HLCS):c.1858_1868del (p.Glu620fs)
|
|
|
NM_001352514.2(HLCS):c.1866C>G (p.Thr622=)
|
rs2146334911
|
|
NM_001352514.2(HLCS):c.1869C>G (p.Pro623=)
|
rs769822408
|
|
NM_001352514.2(HLCS):c.1869C>T (p.Pro623=)
|
rs769822408
|
|
NM_001352514.2(HLCS):c.1869del (p.Thr624fs)
|
rs2065031709
|
|
NM_001352514.2(HLCS):c.1879C>T (p.Arg627Cys)
|
|
|
NM_001352514.2(HLCS):c.1880G>A (p.Arg627His)
|
|
|
NM_001352514.2(HLCS):c.1881T>C (p.Arg627=)
|
rs2146334744
|
|
NM_001352514.2(HLCS):c.1884C>T (p.Leu628=)
|
|
|
NM_001352514.2(HLCS):c.1885C>T (p.Leu629=)
|
|
|
NM_001352514.2(HLCS):c.1892+1G>A
|
|
|
NM_001352514.2(HLCS):c.1892+8G>T
|
rs2065029914
|
|
NM_001352514.2(HLCS):c.1893-11C>G
|
|
|
NM_001352514.2(HLCS):c.1893-14C>T
|
|
|
NM_001352514.2(HLCS):c.1893-22_1893-14dup
|
|
|
NM_001352514.2(HLCS):c.1893-5G>C
|
|
|
NM_001352514.2(HLCS):c.1894C>T (p.Leu632=)
|
|
|
NM_001352514.2(HLCS):c.1896G>A (p.Leu632=)
|
|
|
NM_001352514.2(HLCS):c.1902_1903del (p.Phe634fs)
|
|
|
NM_001352514.2(HLCS):c.1909C>T (p.Pro637Ser)
|
rs2145777265
|
|
NM_001352514.2(HLCS):c.1910del (p.Pro637fs)
|
|
|
NM_001352514.2(HLCS):c.1920G>A (p.Met640Ile)
|
rs2145777174
|
|
NM_001352514.2(HLCS):c.1922G>T (p.Gly641Val)
|
rs1173267062
|
|
NM_001352514.2(HLCS):c.1936G>A (p.Ala646Thr)
|
|
|
NM_001352514.2(HLCS):c.1937C>T (p.Ala646Val)
|
|
|
NM_001352514.2(HLCS):c.1938G>C (p.Ala646=)
|
rs370347318
|
|
NM_001352514.2(HLCS):c.1942C>T (p.Arg648Trp)
|
|
|
NM_001352514.2(HLCS):c.1942del (p.Arg648fs)
|
|
|
NM_001352514.2(HLCS):c.1947G>A (p.Gln649=)
|
rs1031377645
|
|
NM_001352514.2(HLCS):c.1950C>A (p.Thr650=)
|
rs201813658
|
|
NM_001352514.2(HLCS):c.1950C>G (p.Thr650=)
|
rs201813658
|
|
NM_001352514.2(HLCS):c.1950C>T (p.Thr650=)
|
rs201813658
|
|
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg)
|
rs1555885056
|
|
NM_001352514.2(HLCS):c.1956C>A (p.Gly652=)
|
|
|
NM_001352514.2(HLCS):c.1957A>T (p.Lys653Ter)
|
rs2090069178
|
|
NM_001352514.2(HLCS):c.1960+117A>T
|
rs2835455
|
|
NM_001352514.2(HLCS):c.1960+1G>A
|
rs2090068896
|
|
NM_001352514.2(HLCS):c.1960+7C>T
|
|
|
NM_001352514.2(HLCS):c.1960+8A>G
|
rs2145776793
|
|
NM_001352514.2(HLCS):c.1960+8A>T
|
|
|
NM_001352514.2(HLCS):c.1960+9T>C
|
|
|
NM_001352514.2(HLCS):c.1961-12C>A
|
|
|
NM_001352514.2(HLCS):c.1961-12C>T
|
|
|
NM_001352514.2(HLCS):c.1961-2A>G
|
|
|
NM_001352514.2(HLCS):c.1962A>G (p.Gly654=)
|
rs757169763
|
|
NM_001352514.2(HLCS):c.1967G>A (p.Gly656Glu)
|
|
|
NM_001352514.2(HLCS):c.1970G>C (p.Gly657Ala)
|
|
|
NM_001352514.2(HLCS):c.1974T>A (p.Asn658Lys)
|
|
|
NM_001352514.2(HLCS):c.1977G>A (p.Val659=)
|
rs886057075
|
|
NM_001352514.2(HLCS):c.1980G>A (p.Trp660Ter)
|
|
|
NM_001352514.2(HLCS):c.1983G>C (p.Leu661=)
|
|
|
NM_001352514.2(HLCS):c.1989T>C (p.Pro663=)
|
rs1601141038
|
|
NM_001352514.2(HLCS):c.2029C>T (p.Leu677=)
|
|
|
NM_001352514.2(HLCS):c.2030del (p.Leu677fs)
|
|
|
NM_001352514.2(HLCS):c.2037C>A (p.Ser679=)
|
rs2145768209
|
|
NM_001352514.2(HLCS):c.2038C>T (p.Gln680Ter)
|
|
|
NM_001352514.2(HLCS):c.2040G>A (p.Gln680=)
|
|
|
NM_001352514.2(HLCS):c.2041C>T (p.Leu681=)
|
rs2145768179
|
|
NM_001352514.2(HLCS):c.2041dup (p.Leu681fs)
|
|
|
NM_001352514.2(HLCS):c.2044G>T (p.Gly682Ter)
|
rs1324486146
|
|
NM_001352514.2(HLCS):c.2046A>G (p.Gly682=)
|
|
|
NM_001352514.2(HLCS):c.2049G>A (p.Gln683=)
|
|
|
NM_001352514.2(HLCS):c.2055C>A (p.Ile685=)
|
|
|
NM_001352514.2(HLCS):c.2055C>T (p.Ile685=)
|
rs1568975308
|
|
NM_001352514.2(HLCS):c.2057C>T (p.Pro686Leu)
|
|
|
NM_001352514.2(HLCS):c.2060_2081del (p.Phe687fs)
|
|
|
NM_001352514.2(HLCS):c.2064C>T (p.Val688=)
|
|
|
NM_001352514.2(HLCS):c.2067G>A (p.Gln689=)
|
rs2089984668
|
|
NM_001352514.2(HLCS):c.2073G>A (p.Leu691=)
|
rs755088995
|
|
NM_001352514.2(HLCS):c.2079C>T (p.Ser693=)
|
|
|
NM_001352514.2(HLCS):c.2080G>A (p.Val694Met)
|
|
|
NM_001352514.2(HLCS):c.2087T>C (p.Val696Ala)
|
|
|
NM_001352514.2(HLCS):c.2088C>A (p.Val696=)
|
|
|
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)
|
rs119103231
|
|
NM_001352514.2(HLCS):c.2091G>A (p.Val697=)
|
rs773627772
|
|
NM_001352514.2(HLCS):c.2092del (p.Glu698fs)
|
|
|
NM_001352514.2(HLCS):c.2112C>G (p.Pro704=)
|
rs762221640
|
|
NM_001352514.2(HLCS):c.2112C>T (p.Pro704=)
|
rs762221640
|
|
NM_001352514.2(HLCS):c.2114_2121+5del
|
|
|
NM_001352514.2(HLCS):c.2121+10G>A
|
rs2145767655
|
|
NM_001352514.2(HLCS):c.2121+14A>G
|
|
|
NM_001352514.2(HLCS):c.2121+16T>C
|
|
|
NM_001352514.2(HLCS):c.2121+8C>A
|
rs2089982138
|
|
NM_001352514.2(HLCS):c.2121+8C>T
|
rs2089982138
|
|
NM_001352514.2(HLCS):c.2121+9A>G
|
|
|
NM_001352514.2(HLCS):c.2122-13G>A
|
|
|
NM_001352514.2(HLCS):c.2122-19T>C
|
|
|
NM_001352514.2(HLCS):c.2122-6C>T
|
rs764724435
|
|
NM_001352514.2(HLCS):c.2128_2135delinsTAAAGGGTGA (p.Asn710_Arg712delinsTer)
|
|
|
NM_001352514.2(HLCS):c.2134C>A (p.Arg712=)
|
|
|
NM_001352514.2(HLCS):c.2144G>A (p.Trp715Ter)
|
rs1174060268
|
|
NM_001352514.2(HLCS):c.2176A>T (p.Lys726Ter)
|
|
|
NM_001352514.2(HLCS):c.2181C>A (p.Ile727=)
|
rs375456567
|
|
NM_001352514.2(HLCS):c.2184C>G (p.Gly728=)
|
|
|
NM_001352514.2(HLCS):c.2185G>A (p.Gly729Arg)
|
|
|
NM_001352514.2(HLCS):c.2190T>C (p.Val730=)
|
rs2089756578
|
|
NM_001352514.2(HLCS):c.2196T>A (p.Val732=)
|
rs2145744309
|
|
NM_001352514.2(HLCS):c.2201C>G (p.Ser734Ter)
|
rs2089755918
|
|
NM_001352514.2(HLCS):c.2203A>G (p.Thr735Ala)
|
rs2089755704
|
|
NM_001352514.2(HLCS):c.2205A>C (p.Thr735=)
|
rs2145744246
|
|
NM_001352514.2(HLCS):c.2205A>G (p.Thr735=)
|
|
|
NM_001352514.2(HLCS):c.2205A>T (p.Thr735=)
|
|
|
NM_001352514.2(HLCS):c.2208C>G (p.Leu736=)
|
rs764487201
|
|
NM_001352514.2(HLCS):c.2210T>C (p.Met737Thr)
|
|
|
NM_001352514.2(HLCS):c.2212_2213del (p.Gly738fs)
|
|
|
NM_001352514.2(HLCS):c.2215G>A (p.Glu739Lys)
|
|
|
NM_001352514.2(HLCS):c.2220A>G (p.Thr740=)
|
rs2145744147
|
|
NM_001352514.2(HLCS):c.2224del (p.Tyr742fs)
|
|
|
NM_001352514.2(HLCS):c.2230C>T (p.Leu744Phe)
|
|
|
NM_001352514.2(HLCS):c.2236+13A>T
|
|
|
NM_001352514.2(HLCS):c.2236+16C>T
|
|
|
NM_001352514.2(HLCS):c.2236+17T>C
|
|
|
NM_001352514.2(HLCS):c.2236+20C>A
|
|
|
NM_001352514.2(HLCS):c.2237-19A>G
|
|
|
NM_001352514.2(HLCS):c.2237-2A>G
|
|
|
NM_001352514.2(HLCS):c.2237-56_2255del
|
rs2145732111
|
|
NM_001352514.2(HLCS):c.2237-6G>A
|
rs201208730
|
|
NM_001352514.2(HLCS):c.2237-7dup
|
|
|
NM_001352514.2(HLCS):c.2246T>G (p.Phe749Cys)
|
|
|
NM_001352514.2(HLCS):c.2247T>C (p.Phe749=)
|
rs2145732165
|
|
NM_001352514.2(HLCS):c.2251G>A (p.Val751Met)
|
rs1555882115
|
|
NM_001352514.2(HLCS):c.2259C>T (p.Asn753=)
|
rs760492059
|
|
NM_001352514.2(HLCS):c.2262T>C (p.Ser754=)
|
|
|
NM_001352514.2(HLCS):c.2267C>G (p.Pro756Arg)
|
rs1601100788
|
|
NM_001352514.2(HLCS):c.2268T>C (p.Pro756=)
|
rs2145731986
|
|
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del)
|
rs1555882090
|
|
NM_001352514.2(HLCS):c.2279T>C (p.Ile760Thr)
|
rs2145731903
|
|
NM_001352514.2(HLCS):c.2280dup (p.Asn761fs)
|
rs1555882068
|
|
NM_001352514.2(HLCS):c.2289C>T (p.Leu763=)
|
|
|
NM_001352514.2(HLCS):c.2291T>A (p.Ile764Asn)
|
rs2145731806
|
|
NM_001352514.2(HLCS):c.2295A>G (p.Thr765=)
|
|
|
NM_001352514.2(HLCS):c.2298A>G (p.Glu766=)
|
|
|
NM_001352514.2(HLCS):c.2301C>G (p.Tyr767Ter)
|
|
|
NM_001352514.2(HLCS):c.2308C>T (p.Gln770Ter)
|
|
|
NM_001352514.2(HLCS):c.2313C>T (p.His771=)
|
rs1376040224
|
|
NM_001352514.2(HLCS):c.2328G>A (p.Lys776=)
|
|
|
NM_001352514.2(HLCS):c.2330C>T (p.Pro777Leu)
|
|
|
NM_001352514.2(HLCS):c.2331C>T (p.Pro777=)
|
rs2123576595
|
|
NM_001352514.2(HLCS):c.2333T>G (p.Leu778Ter)
|
|
|
NM_001352514.2(HLCS):c.2334A>G (p.Leu778=)
|
rs2123576546
|
|
NM_001352514.2(HLCS):c.2337A>G (p.Arg779=)
|
|
|
NM_001352514.2(HLCS):c.2341G>T (p.Asp781Tyr)
|
|
|
NM_001352514.2(HLCS):c.2347C>G (p.Leu783Val)
|
|
|
NM_001352514.2(HLCS):c.2360T>C (p.Val787Ala)
|
|
|
NM_001352514.2(HLCS):c.2361C>G (p.Val787=)
|
|
|
NM_001352514.2(HLCS):c.2368G>A (p.Val790Met)
|
|
|
NM_001352514.2(HLCS):c.2369_2373del (p.Val790fs)
|
|
|
NM_001352514.2(HLCS):c.2370G>C (p.Val790=)
|
|
|
NM_001352514.2(HLCS):c.2373G>T (p.Leu791=)
|
|
|
NM_001352514.2(HLCS):c.2385C>T (p.Ile795=)
|
rs747302103
|
|
NM_001352514.2(HLCS):c.2388A>G (p.Lys796=)
|
rs2123575791
|
|
NM_001352514.2(HLCS):c.2397G>A (p.Gln799=)
|
rs2123575709
|
|
NM_001352514.2(HLCS):c.2403A>G (p.Lys801=)
|
|
|
NM_001352514.2(HLCS):c.2406G>A (p.Gly802=)
|
|
|
NM_001352514.2(HLCS):c.2409C>G (p.Pro803=)
|
rs763530346
|
|
NM_001352514.2(HLCS):c.2409C>T (p.Pro803=)
|
|
|
NM_001352514.2(HLCS):c.2412C>T (p.Asn804=)
|
rs2089605319
|
|
NM_001352514.2(HLCS):c.2413A>G (p.Ser805Gly)
|
rs755620019
|
|
NM_001352514.2(HLCS):c.2418C>T (p.Val806=)
|
rs759416272
|
|
NM_001352514.2(HLCS):c.2421T>C (p.Leu807=)
|
rs766430268
|
|
NM_001352514.2(HLCS):c.2424C>G (p.Pro808=)
|
rs762915830
|
|
NM_001352514.2(HLCS):c.2424C>T (p.Pro808=)
|
rs762915830
|
|
NM_001352514.2(HLCS):c.2433C>T (p.Tyr811=)
|
|
|
NM_001352514.2(HLCS):c.2436A>G (p.Arg812=)
|
|
|
NM_001352514.2(HLCS):c.2439C>G (p.Tyr813Ter)
|
|
|
NM_001352514.2(HLCS):c.2450+136C>T
|
rs9977769
|
|
NM_001352514.2(HLCS):c.2450+1_2450+2del
|
rs2089602804
|
|
NM_001352514.2(HLCS):c.2450+20C>T
|
rs2123574898
|
|
NM_001352514.2(HLCS):c.2450+2T>A
|
|
|
NM_001352514.2(HLCS):c.2450+4A>G
|
|
|
NM_001352514.2(HLCS):c.2450+8C>T
|
rs2123575052
|
|
NM_001352514.2(HLCS):c.2450+9T>C
|
|
|
NM_001352514.2(HLCS):c.2451-13T>C
|
rs2123556883
|
|
NM_001352514.2(HLCS):c.2451-15G>C
|
|
|
NM_001352514.2(HLCS):c.2451-18G>A
|
|
|
NM_001352514.2(HLCS):c.2451-19C>A
|
|
|
NM_001352514.2(HLCS):c.2451-19C>G
|
|
|
NM_001352514.2(HLCS):c.2451-2A>G
|
|
|
NM_001352514.2(HLCS):c.2451-4del
|
|
|
NM_001352514.2(HLCS):c.2451-8C>T
|
rs373177254
|
|
NM_001352514.2(HLCS):c.2458del (p.Gln820fs)
|
|
|
NM_001352514.2(HLCS):c.2460A>C (p.Gln820His)
|
|
|
NM_001352514.2(HLCS):c.2466T>C (p.His822=)
|
|
|
NM_001352514.2(HLCS):c.2467C>T (p.Leu823=)
|
rs2123556668
|
|
NM_001352514.2(HLCS):c.2475C>T (p.Ser825=)
|
rs2089478015
|
|
NM_001352514.2(HLCS):c.2476G>T (p.Ala826Ser)
|
rs376898721
|
|
NM_001352514.2(HLCS):c.2487A>G (p.Pro829=)
|
rs2123556491
|
|
NM_001352514.2(HLCS):c.2495C>T (p.Ser832Phe)
|
|
|
NM_001352514.2(HLCS):c.2496C>A (p.Ser832=)
|
|
|
NM_001352514.2(HLCS):c.2499C>T (p.Ile833=)
|
|
|
NM_001352514.2(HLCS):c.2501T>C (p.Val834Ala)
|
rs2123556320
|
|
NM_001352514.2(HLCS):c.2501_2503dup (p.Val834dup)
|
rs773191073
|
|
NM_001352514.2(HLCS):c.2526C>G (p.Leu842=)
|
rs147256659
|
|
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)
|
rs767700692
|
|
NM_001352514.2(HLCS):c.2547C>G (p.Gly849=)
|
rs768097284
|
|
NM_001352514.2(HLCS):c.2547C>T (p.Gly849=)
|
|
|
NM_001352514.2(HLCS):c.2551G>A (p.Val851Ile)
|
|
|
NM_001352514.2(HLCS):c.2565C>T (p.His855=)
|
|
|
NM_001352514.2(HLCS):c.2567del (p.Pro856fs)
|
rs1555880930
|
|
NM_001352514.2(HLCS):c.2572G>A (p.Gly858Ser)
|
|
|
NM_001352514.2(HLCS):c.2580C>T (p.Ser860=)
|
|
|
NM_001352514.2(HLCS):c.2581T>G (p.Phe861Val)
|
|
|
NM_001352514.2(HLCS):c.2587_2588del (p.Met863fs)
|
rs1555880894
|
|
NM_001352514.2(HLCS):c.2600del (p.Leu867fs)
|
rs761447836
|
|
NM_001352514.2(HLCS):c.2601C>T (p.Leu867=)
|
|
|
NM_001352514.2(HLCS):c.2605C>T (p.Leu869Phe)
|
|
|
NM_001352514.2(HLCS):c.2611_2614del (p.Lys871fs)
|
rs774356408
|
|
NM_001352514.2(HLCS):c.2614C>A (p.Arg872=)
|
|
|
NM_001352514.2(HLCS):c.2614C>T (p.Arg872Trp)
|
|
|
NM_001352514.2(HLCS):c.2618G>A (p.Arg873Gln)
|
|
|
NM_001352514.2(HLCS):c.331-1G>C
|
|
|
NM_001352514.2(HLCS):c.442A>C (p.Met148Leu)
|
rs764841449
|
|
NM_001352514.2(HLCS):c.449A>G (p.Asp150Gly)
|
rs761490181
|
|
NM_001352514.2(HLCS):c.458A>G (p.His153Arg)
|
|
|
NM_001352514.2(HLCS):c.460A>G (p.Met154Val)
|
|
|
NM_001352514.2(HLCS):c.463G>A (p.Asp155Asn)
|
|
|
NM_001352514.2(HLCS):c.471A>C (p.Gly157=)
|
rs2146535946
|
|
NM_001352514.2(HLCS):c.476dup (p.Pro160fs)
|
|
|
NM_001352514.2(HLCS):c.481C>G (p.Gln161Glu)
|
|
|
NM_001352514.2(HLCS):c.485A>C (p.Lys162Thr)
|
|
|
NM_001352514.2(HLCS):c.489T>G (p.Ile163Met)
|
rs886057079
|
|
NM_001352514.2(HLCS):c.491T>C (p.Val164Ala)
|
rs2146535803
|
|
NM_001352514.2(HLCS):c.493+10T>C
|
rs1601811088
|
|
NM_001352514.2(HLCS):c.493+12T>C
|
|
|
NM_001352514.2(HLCS):c.493+15A>G
|
|
|
NM_001352514.2(HLCS):c.493+18A>C
|
|
|
NM_001352514.2(HLCS):c.493+20G>A
|
|
|
NM_001352514.2(HLCS):c.493+2T>C
|
|
|
NM_001352514.2(HLCS):c.493+9C>A
|
rs886057078
|
|
NM_001352514.2(HLCS):c.494-17T>A
|
|
|
NM_001352514.2(HLCS):c.494-1G>A
|
|
|
NM_001352514.2(HLCS):c.494-25TC[3]
|
|
|
NM_001352514.2(HLCS):c.494-25TC[4]
|
rs146532042
|
|
NM_001352514.2(HLCS):c.494-25TC[6]
|
rs146532042
|
|
NM_001352514.2(HLCS):c.494-2A>T
|
|
|
NM_001352514.2(HLCS):c.494-7G>A
|
|
|
NM_001352514.2(HLCS):c.494-7G>C
|
rs1437015433
|
|
NM_001352514.2(HLCS):c.494-8T>C
|
rs778287214
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NM_001352514.2(HLCS):c.494-9A>T
|
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NM_001352514.2(HLCS):c.495G>A (p.Ser165=)
|
rs1254077652
|
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NM_001352514.2(HLCS):c.497T>C (p.Val166Ala)
|
|
|
NM_001352514.2(HLCS):c.503T>G (p.Leu168Trp)
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NM_001352514.2(HLCS):c.504G>A (p.Leu168=)
|
rs2066944309
|
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NM_001352514.2(HLCS):c.504G>T (p.Leu168Phe)
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NM_001352514.2(HLCS):c.505C>T (p.Gln169Ter)
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NM_001352514.2(HLCS):c.507G>A (p.Gln169=)
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|
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
|
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|
NM_001352514.2(HLCS):c.516T>C (p.Thr172=)
|
rs752570659
|
|
NM_001352514.2(HLCS):c.517C>T (p.Leu173=)
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|
NM_001352514.2(HLCS):c.526G>C (p.Val176Leu)
|
|
|
NM_001352514.2(HLCS):c.535C>T (p.Gln179Ter)
|
rs2066942649
|
|
NM_001352514.2(HLCS):c.537G>A (p.Gln179=)
|
rs2146529501
|
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NM_001352514.2(HLCS):c.542C>A (p.Ser181Ter)
|
rs2066942076
|
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NM_001352514.2(HLCS):c.546C>T (p.Asn182=)
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NM_001352514.2(HLCS):c.555C>T (p.Ala185=)
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NM_001352514.2(HLCS):c.567G>A (p.Glu189=)
|
rs61732504
|
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NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer)
|
rs1064796014
|
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NM_001352514.2(HLCS):c.570G>T (p.Pro190=)
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NM_001352514.2(HLCS):c.579A>G (p.Glu193=)
|
rs2146529125
|
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NM_001352514.2(HLCS):c.581C>T (p.Pro194Leu)
|
rs565756796
|
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NM_001352514.2(HLCS):c.582T>G (p.Pro194=)
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NM_001352514.2(HLCS):c.585T>A (p.Ser195=)
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NM_001352514.2(HLCS):c.586C>T (p.Leu196Phe)
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NM_001352514.2(HLCS):c.597G>A (p.Lys199=)
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NM_001352514.2(HLCS):c.599C>T (p.Pro200Leu)
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NM_001352514.2(HLCS):c.600T>C (p.Pro200=)
|
rs2066937541
|
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NM_001352514.2(HLCS):c.606G>A (p.Gln202=)
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NM_001352514.2(HLCS):c.616del (p.Glu206fs)
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NM_001352514.2(HLCS):c.633T>C (p.Asp211=)
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NM_001352514.2(HLCS):c.636C>T (p.Asp212=)
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NM_001352514.2(HLCS):c.652G>A (p.Glu218Lys)
|
rs2066934793
|
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NM_001352514.2(HLCS):c.655G>T (p.Glu219Ter)
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|
NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter)
|
rs1555957134
|
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NM_001352514.2(HLCS):c.664_667del (p.Gln222fs)
|
rs776431253
|
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NM_001352514.2(HLCS):c.678T>C (p.Ser226=)
|
rs2146528574
|
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NM_001352514.2(HLCS):c.684T>G (p.Ser228=)
|
rs2146528551
|
|
NM_001352514.2(HLCS):c.687G>C (p.Gly229=)
|
rs2146528539
|
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NM_001352514.2(HLCS):c.687del (p.Ser230fs)
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|
NM_001352514.2(HLCS):c.691G>T (p.Glu231Ter)
|
rs1569218416
|
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NM_001352514.2(HLCS):c.702G>A (p.Gly234=)
|
rs373193883
|
|
NM_001352514.2(HLCS):c.711C>T (p.Asp237=)
|
rs754558925
|
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NM_001352514.2(HLCS):c.726dup (p.Val243fs)
|
|
|
NM_001352514.2(HLCS):c.727del (p.Val243fs)
|
rs2146528200
|
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NM_001352514.2(HLCS):c.732G>A (p.Glu244=)
|
|
|
NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys)
|
rs765150200
|
|
NM_001352514.2(HLCS):c.741C>T (p.His247=)
|
rs761937078
|
|
NM_001352514.2(HLCS):c.749del (p.Leu250fs)
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NM_001352514.2(HLCS):c.759C>A (p.Cys253Ter)
|
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NM_001352514.2(HLCS):c.759C>T (p.Cys253=)
|
rs751148714
|
|
NM_001352514.2(HLCS):c.763G>T (p.Glu255Ter)
|
rs937407062
|
|
NM_001352514.2(HLCS):c.765G>A (p.Glu255=)
|
|
|
NM_001352514.2(HLCS):c.767G>T (p.Cys256Phe)
|
rs2066926744
|
|
NM_001352514.2(HLCS):c.774_775insTGTTCTCGGCAGACGCAAA (p.Leu259fs)
|
|
|
NM_001352514.2(HLCS):c.783C>T (p.Asn261=)
|
rs1601805290
|
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NM_001352514.2(HLCS):c.792T>C (p.Ile264=)
|
rs775055913
|
|
NM_001352514.2(HLCS):c.794_795del (p.Glu265fs)
|
|
|
NM_001352514.2(HLCS):c.804G>A (p.Lys268=)
|
rs1228716242
|
|
NM_001352514.2(HLCS):c.809C>T (p.Ala270Val)
|
|
|
NM_001352514.2(HLCS):c.810G>T (p.Ala270=)
|
|
|
NM_001352514.2(HLCS):c.816C>G (p.Ala272=)
|
rs376665169
|
|
NM_001352514.2(HLCS):c.821_822insTTCCATTG (p.Ile275fs)
|
|
|
NM_001352514.2(HLCS):c.828A>G (p.Pro276=)
|
rs2066924267
|
|
NM_001352514.2(HLCS):c.832C>T (p.Leu278Phe)
|
|
|
NM_001352514.2(HLCS):c.834T>C (p.Leu278=)
|
rs2146527642
|
|
NM_001352514.2(HLCS):c.840C>A (p.Tyr280Ter)
|
rs779907293
|
|
NM_001352514.2(HLCS):c.846T>C (p.Tyr282=)
|
|
|
NM_001352514.2(HLCS):c.853A>G (p.Ser285Gly)
|
|
|
NM_001352514.2(HLCS):c.857T>A (p.Leu286Ter)
|
rs144572349
|
|
NM_001352514.2(HLCS):c.857del (p.Leu286fs)
|
|
|
NM_001352514.2(HLCS):c.863del (p.Ser288fs)
|
rs1015594025
|
|
NM_001352514.2(HLCS):c.873T>C (p.Asp291=)
|
|
|
NM_001352514.2(HLCS):c.879C>T (p.Thr293=)
|
|
|
NM_001352514.2(HLCS):c.882C>T (p.Ser294=)
|
|
|
NM_001352514.2(HLCS):c.886G>T (p.Glu296Ter)
|
rs760029192
|
|
NM_001352514.2(HLCS):c.908A>T (p.Asn303Ile)
|
rs912685138
|
|
NM_001352514.2(HLCS):c.909C>A (p.Asn303Lys)
|
|
|
NM_001352514.2(HLCS):c.915G>A (p.Thr305=)
|
rs1000269533
|
|
NM_001352514.2(HLCS):c.919A>G (p.Lys307Glu)
|
|
|
NM_001352514.2(HLCS):c.924A>G (p.Ala308=)
|
|
|
NM_001352514.2(HLCS):c.927C>A (p.Pro309=)
|
|
|
NM_001352514.2(HLCS):c.929del (p.Asn310fs)
|
|
|
NM_001352514.2(HLCS):c.933C>T (p.Ile311=)
|
rs1057523220
|
|
NM_001352514.2(HLCS):c.939C>G (p.Leu313=)
|
|
|
NM_001352514.2(HLCS):c.941A>C (p.Tyr314Ser)
|
rs778638155
|
|
NM_001352514.2(HLCS):c.942T>C (p.Tyr314=)
|
rs1232499269
|
|
NM_001352514.2(HLCS):c.945G>T (p.Val315=)
|
rs2146526787
|
|
NM_001352514.2(HLCS):c.946G>T (p.Gly316Cys)
|
|
|
NM_001352514.2(HLCS):c.951C>G (p.Ser317=)
|
rs185480832
|
|
NM_001352514.2(HLCS):c.952G>A (p.Asp318Asn)
|
|
|
NM_001352514.2(HLCS):c.958C>T (p.Gln320Ter)
|
|
|
NM_001352514.2(HLCS):c.958del (p.Gln320fs)
|
|
|
NM_001352514.2(HLCS):c.958dup (p.Gln320fs)
|
|
|
NM_001352514.2(HLCS):c.963A>G (p.Glu321=)
|
rs767893846
|
|
NM_001352514.2(HLCS):c.978C>T (p.Phe326=)
|
|
|
NM_001352514.2(HLCS):c.978_979insTGTCTCTTATACACAT (p.His327fs)
|
|
|
NM_001352514.2(HLCS):c.984G>A (p.Glu328=)
|
|
|
NM_001352514.2(HLCS):c.989G>C (p.Arg330Pro)
|
rs368754318
|
|
NM_001352514.2(HLCS):c.990G>A (p.Arg330=)
|
rs771741236
|
|
NM_001352514.2(HLCS):c.990G>T (p.Arg330=)
|
|
|
NM_001352514.2(HLCS):c.997C>T (p.Leu333=)
|
rs1245601073
|
|
NM_001352514.2(HLCS):c.999G>T (p.Leu333=)
|
rs1324605554
|
|