NM_031935.3(HMCN1):c.6029-4T>C
|
rs10911803
|
0.00676
|
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser)
|
rs74967568
|
0.00644
|
NM_031935.3(HMCN1):c.3695C>T (p.Thr1232Met)
|
rs146418772
|
0.00555
|
NM_031935.3(HMCN1):c.11556A>T (p.Ser3852=)
|
rs144346158
|
0.00443
|
NM_031935.3(HMCN1):c.7515G>T (p.Gly2505=)
|
rs41317479
|
0.00347
|
NM_031935.3(HMCN1):c.114G>T (p.Gly38=)
|
rs115169621
|
0.00337
|
NM_031935.3(HMCN1):c.7494G>A (p.Thr2498=)
|
rs148467349
|
0.00333
|
NM_031935.3(HMCN1):c.785A>G (p.Asn262Ser)
|
rs60502467
|
0.00295
|
NM_031935.3(HMCN1):c.16623C>G (p.Leu5541=)
|
rs151256828
|
0.00293
|
NM_031935.3(HMCN1):c.6708A>G (p.Pro2236=)
|
rs144191448
|
0.00272
|
NM_031935.3(HMCN1):c.6287T>A (p.Ile2096Asn)
|
rs114669703
|
0.00259
|
NM_031935.3(HMCN1):c.10697G>A (p.Gly3566Asp)
|
rs41317483
|
0.00239
|
NM_031935.3(HMCN1):c.15256+4A>T
|
rs184102616
|
0.00225
|
NM_031935.3(HMCN1):c.5070A>T (p.Ile1690=)
|
rs141581919
|
0.00222
|
NM_031935.3(HMCN1):c.10618G>A (p.Val3540Ile)
|
rs140493567
|
0.00218
|
NM_031935.3(HMCN1):c.16385A>G (p.Gln5462Arg)
|
rs35856562
|
0.00193
|
NM_031935.3(HMCN1):c.4631-6_4635del
|
rs568290303
|
0.00160
|
NM_031935.3(HMCN1):c.2372-3C>T
|
rs186546131
|
0.00139
|
NM_031935.3(HMCN1):c.14336G>A (p.Arg4779Gln)
|
rs144926247
|
0.00128
|
NM_031935.3(HMCN1):c.6305-16C>T
|
rs183087222
|
0.00116
|
NM_031935.3(HMCN1):c.3434G>A (p.Ser1145Asn)
|
rs142909496
|
0.00115
|
NM_031935.3(HMCN1):c.13462G>A (p.Val4488Met)
|
rs146552651
|
0.00113
|
NM_031935.3(HMCN1):c.1480G>A (p.Glu494Lys)
|
rs139490011
|
0.00113
|
NM_031935.3(HMCN1):c.15489C>T (p.Asp5163=)
|
rs142456335
|
0.00112
|
NM_031935.3(HMCN1):c.5356A>G (p.Asn1786Asp)
|
rs147995526
|
0.00111
|
NM_031935.3(HMCN1):c.10064T>C (p.Leu3355Ser)
|
rs146143836
|
0.00110
|
NM_031935.3(HMCN1):c.865G>A (p.Val289Met)
|
rs144384070
|
0.00108
|
NM_031935.3(HMCN1):c.9546G>A (p.Thr3182=)
|
rs140049629
|
0.00100
|
NM_031935.3(HMCN1):c.2978T>C (p.Ile993Thr)
|
rs140061598
|
0.00098
|
NM_031935.3(HMCN1):c.9686T>C (p.Met3229Thr)
|
rs144560225
|
0.00096
|
NM_031935.3(HMCN1):c.12074G>A (p.Gly4025Asp)
|
rs146671871
|
0.00093
|
NM_031935.3(HMCN1):c.9602G>A (p.Arg3201His)
|
rs149077801
|
0.00084
|
NM_031935.3(HMCN1):c.11206G>A (p.Ala3736Thr)
|
rs138190200
|
0.00081
|
NM_031935.3(HMCN1):c.13231-4A>G
|
rs191690433
|
0.00081
|
NM_031935.3(HMCN1):c.13313G>A (p.Ser4438Asn)
|
rs61732179
|
0.00076
|
NM_031935.3(HMCN1):c.9808G>C (p.Ala3270Pro)
|
rs138290901
|
0.00076
|
NM_031935.3(HMCN1):c.9392G>A (p.Arg3131Lys)
|
rs113241441
|
0.00072
|
NM_031935.3(HMCN1):c.16034A>G (p.Gln5345Arg)
|
rs121434382
|
0.00070
|
NM_031935.3(HMCN1):c.15527G>A (p.Arg5176His)
|
rs150494959
|
0.00068
|
NM_031935.3(HMCN1):c.10532A>G (p.Glu3511Gly)
|
rs143629026
|
0.00063
|
NM_031935.3(HMCN1):c.3551T>C (p.Val1184Ala)
|
rs201865736
|
0.00063
|
NM_031935.3(HMCN1):c.11011C>G (p.Leu3671Val)
|
rs150618921
|
0.00061
|
NM_031935.3(HMCN1):c.13313-20C>T
|
rs139437150
|
0.00060
|
NM_031935.3(HMCN1):c.15515G>A (p.Arg5172His)
|
rs147769095
|
0.00060
|
NM_031935.3(HMCN1):c.13327A>T (p.Thr4443Ser)
|
rs138178673
|
0.00059
|
NM_031935.3(HMCN1):c.13089T>C (p.Leu4363=)
|
rs41317495
|
0.00058
|
NM_031935.3(HMCN1):c.1344A>G (p.Gln448=)
|
rs145612988
|
0.00058
|
NM_031935.3(HMCN1):c.15212T>G (p.Ile5071Arg)
|
rs150734874
|
0.00056
|
NM_031935.3(HMCN1):c.3669C>T (p.Asp1223=)
|
rs144051894
|
0.00055
|
NM_031935.3(HMCN1):c.3874+5G>A
|
rs201803260
|
0.00054
|
NM_031935.3(HMCN1):c.7345A>G (p.Met2449Val)
|
rs199613884
|
0.00050
|
NM_031935.3(HMCN1):c.437G>A (p.Arg146Gln)
|
rs146401446
|
0.00049
|
NM_031935.3(HMCN1):c.15764T>C (p.Ile5255Thr)
|
rs143665535
|
0.00048
|
NM_031935.3(HMCN1):c.10903C>T (p.Arg3635Trp)
|
rs34928488
|
0.00047
|
NM_031935.3(HMCN1):c.3276T>G (p.Leu1092=)
|
rs146430539
|
0.00047
|
NM_031935.3(HMCN1):c.11042A>G (p.Asn3681Ser)
|
rs145693979
|
0.00046
|
NM_031935.3(HMCN1):c.2119G>T (p.Val707Phe)
|
rs137903471
|
0.00045
|
NM_031935.3(HMCN1):c.3626G>T (p.Ser1209Ile)
|
rs573371474
|
0.00045
|
NM_031935.3(HMCN1):c.8939A>C (p.Asn2980Thr)
|
rs150226500
|
0.00044
|
NM_031935.3(HMCN1):c.2765G>A (p.Arg922His)
|
rs140928144
|
0.00043
|
NM_031935.3(HMCN1):c.7145C>T (p.Ala2382Val)
|
rs140744695
|
0.00042
|
NM_031935.3(HMCN1):c.5732T>C (p.Ile1911Thr)
|
rs150811327
|
0.00041
|
NM_031935.3(HMCN1):c.11134C>T (p.Pro3712Ser)
|
rs141099682
|
0.00040
|
NM_031935.3(HMCN1):c.11404+11G>A
|
rs187354891
|
0.00039
|
NM_031935.3(HMCN1):c.13855C>A (p.Gln4619Lys)
|
rs137942830
|
0.00038
|
NM_031935.3(HMCN1):c.12965A>T (p.Asp4322Val)
|
rs138409434
|
0.00037
|
NM_031935.3(HMCN1):c.11640C>T (p.Asn3880=)
|
rs140981285
|
0.00036
|
NM_031935.3(HMCN1):c.14322C>T (p.Asn4774=)
|
rs139398979
|
0.00036
|
NM_031935.3(HMCN1):c.2157C>T (p.Thr719=)
|
rs141371119
|
0.00036
|
NM_031935.3(HMCN1):c.602A>G (p.Asp201Gly)
|
rs182468717
|
0.00035
|
NM_031935.3(HMCN1):c.9003T>C (p.Asn3001=)
|
rs143086645
|
0.00035
|
NM_031935.3(HMCN1):c.7048C>A (p.Leu2350Met)
|
rs201628935
|
0.00033
|
NM_031935.3(HMCN1):c.8391T>C (p.Leu2797=)
|
rs149752078
|
0.00031
|
NM_031935.3(HMCN1):c.2385C>T (p.Phe795=)
|
rs140778669
|
0.00030
|
NM_031935.3(HMCN1):c.4920G>A (p.Met1640Ile)
|
rs145758069
|
0.00029
|
NM_031935.3(HMCN1):c.14111C>T (p.Ala4704Val)
|
rs41317503
|
0.00028
|
NM_031935.3(HMCN1):c.11333C>T (p.Thr3778Ile)
|
rs199585281
|
0.00024
|
NM_031935.3(HMCN1):c.12377G>A (p.Arg4126His)
|
rs141573564
|
0.00024
|
NM_031935.3(HMCN1):c.1479C>T (p.Asp493=)
|
rs189175231
|
0.00024
|
NM_031935.3(HMCN1):c.5651A>T (p.Gln1884Leu)
|
rs142871818
|
0.00024
|
NM_031935.3(HMCN1):c.3764C>T (p.Thr1255Met)
|
rs201379680
|
0.00023
|
NM_031935.3(HMCN1):c.1224T>C (p.Tyr408=)
|
rs373089927
|
0.00022
|
NM_031935.3(HMCN1):c.1431-17C>T
|
rs370334571
|
0.00020
|
NM_031935.3(HMCN1):c.14438-5C>A
|
rs140571899
|
0.00020
|
NM_031935.3(HMCN1):c.2916T>G (p.Thr972=)
|
rs200384314
|
0.00020
|
NM_031935.3(HMCN1):c.15440-9C>T
|
rs374670687
|
0.00019
|
NM_031935.3(HMCN1):c.6852G>A (p.Leu2284=)
|
rs141701245
|
0.00019
|
NM_031935.3(HMCN1):c.6315T>C (p.Asn2105=)
|
rs373512659
|
0.00017
|
NM_031935.3(HMCN1):c.8291-8C>T
|
rs372101261
|
0.00017
|
NM_031935.3(HMCN1):c.12500-17T>G
|
rs370607941
|
0.00016
|
NM_031935.3(HMCN1):c.1546G>A (p.Val516Ile)
|
rs199966462
|
0.00016
|
NM_031935.3(HMCN1):c.16773G>A (p.Val5591=)
|
rs145772673
|
0.00016
|
NM_031935.3(HMCN1):c.3030G>A (p.Pro1010=)
|
rs377478076
|
0.00016
|
NM_031935.3(HMCN1):c.794-4_794-2dup
|
rs34771656
|
0.00016
|
NM_031935.3(HMCN1):c.11916G>A (p.Ala3972=)
|
rs374616091
|
0.00015
|
NM_031935.3(HMCN1):c.7185T>C (p.Asn2395=)
|
rs781180478
|
0.00015
|
NM_031935.3(HMCN1):c.12229+18C>G
|
rs539775023
|
0.00014
|
NM_031935.3(HMCN1):c.1545C>T (p.Asp515=)
|
rs750371257
|
0.00014
|
NM_031935.3(HMCN1):c.9522T>A (p.Asp3174Glu)
|
rs76432158
|
0.00014
|
NM_031935.3(HMCN1):c.12165T>G (p.Thr4055=)
|
rs147891898
|
0.00013
|
NM_031935.3(HMCN1):c.12230-3T>C
|
rs200662005
|
0.00012
|
NM_031935.3(HMCN1):c.13833G>A (p.Arg4611=)
|
rs186418526
|
0.00012
|
NM_031935.3(HMCN1):c.1398T>C (p.Asn466=)
|
rs149417407
|
0.00012
|
NM_031935.3(HMCN1):c.11849-18del
|
rs760277967
|
0.00011
|
NM_031935.3(HMCN1):c.11905G>A (p.Ala3969Thr)
|
rs145955451
|
0.00011
|
NM_031935.3(HMCN1):c.5559T>C (p.Ile1853=)
|
rs373478640
|
0.00011
|
NM_031935.3(HMCN1):c.6305-14C>T
|
rs369988539
|
0.00011
|
NM_031935.3(HMCN1):c.6917G>A (p.Arg2306Gln)
|
rs137853916
|
0.00011
|
NM_031935.3(HMCN1):c.7212A>G (p.Val2404=)
|
rs368757349
|
0.00011
|
NM_031935.3(HMCN1):c.8140-11T>C
|
rs371411934
|
0.00011
|
NM_031935.3(HMCN1):c.14140G>A (p.Val4714Met)
|
rs770936849
|
0.00010
|
NM_031935.3(HMCN1):c.15789C>G (p.Thr5263=)
|
rs757674939
|
0.00010
|
NM_031935.3(HMCN1):c.2343A>G (p.Ala781=)
|
rs754555903
|
0.00010
|
NM_031935.3(HMCN1):c.3102T>C (p.Gly1034=)
|
rs752004477
|
0.00010
|
NM_031935.3(HMCN1):c.6813G>A (p.Ala2271=)
|
rs181852740
|
0.00010
|
NM_031935.3(HMCN1):c.1104A>G (p.Ser368=)
|
rs41317461
|
0.00009
|
NM_031935.3(HMCN1):c.4752C>T (p.Asp1584=)
|
rs144362862
|
0.00009
|
NM_031935.3(HMCN1):c.7499C>T (p.Thr2500Ile)
|
rs376810057
|
0.00009
|
NM_031935.3(HMCN1):c.13039+13G>A
|
rs553369532
|
0.00008
|
NM_031935.3(HMCN1):c.1406C>A (p.Thr469Lys)
|
rs200897962
|
0.00008
|
NM_031935.3(HMCN1):c.4828G>A (p.Val1610Ile)
|
rs201176937
|
0.00008
|
NM_031935.3(HMCN1):c.5974G>A (p.Val1992Met)
|
rs558576428
|
0.00008
|
NM_031935.3(HMCN1):c.11797A>T (p.Asn3933Tyr)
|
rs184081240
|
0.00007
|
NM_031935.3(HMCN1):c.13230+9C>T
|
rs573598298
|
0.00006
|
NM_031935.3(HMCN1):c.13582+11T>C
|
rs764698262
|
0.00006
|
NM_031935.3(HMCN1):c.3177C>T (p.Tyr1059=)
|
rs757058220
|
0.00006
|
NM_031935.3(HMCN1):c.6795A>G (p.Ala2265=)
|
rs576041088
|
0.00006
|
NM_031935.3(HMCN1):c.7017A>G (p.Val2339=)
|
rs758248236
|
0.00006
|
NM_031935.3(HMCN1):c.7681A>C (p.Arg2561=)
|
rs780755707
|
0.00006
|
NM_031935.3(HMCN1):c.10294+7G>A
|
rs199898360
|
0.00005
|
NM_031935.3(HMCN1):c.10503G>A (p.Ser3501=)
|
rs145257193
|
0.00005
|
NM_031935.3(HMCN1):c.11205C>T (p.Ile3735=)
|
rs557210222
|
0.00005
|
NM_031935.3(HMCN1):c.12726C>T (p.Asn4242=)
|
rs150757082
|
0.00005
|
NM_031935.3(HMCN1):c.12804C>T (p.Asp4268=)
|
rs147822137
|
0.00005
|
NM_031935.3(HMCN1):c.16719T>C (p.Asp5573=)
|
rs779915950
|
0.00005
|
NM_031935.3(HMCN1):c.4499A>G (p.Asn1500Ser)
|
rs772105060
|
0.00005
|
NM_031935.3(HMCN1):c.5411G>A (p.Arg1804Gln)
|
rs777060812
|
0.00005
|
NM_031935.3(HMCN1):c.8241A>G (p.Ala2747=)
|
rs183725854
|
0.00005
|
NM_031935.3(HMCN1):c.12019T>C (p.Leu4007=)
|
rs1393069190
|
0.00004
|
NM_031935.3(HMCN1):c.13637G>A (p.Gly4546Glu)
|
rs202140956
|
0.00004
|
NM_031935.3(HMCN1):c.13770G>A (p.Ser4590=)
|
rs772713981
|
0.00004
|
NM_031935.3(HMCN1):c.13992G>C (p.Gln4664His)
|
rs551261120
|
0.00004
|
NM_031935.3(HMCN1):c.14491G>A (p.Gly4831Arg)
|
rs774478146
|
0.00004
|
NM_031935.3(HMCN1):c.14814A>G (p.Ala4938=)
|
rs764895427
|
0.00004
|
NM_031935.3(HMCN1):c.15689-7T>C
|
rs370901552
|
0.00004
|
NM_031935.3(HMCN1):c.16050C>T (p.Asp5350=)
|
rs370263142
|
0.00004
|
NM_031935.3(HMCN1):c.16806C>T (p.Thr5602=)
|
rs145370988
|
0.00004
|
NM_031935.3(HMCN1):c.1791T>A (p.Gly597=)
|
rs1435651902
|
0.00004
|
NM_031935.3(HMCN1):c.3048+12A>G
|
rs759007264
|
0.00004
|
NM_031935.3(HMCN1):c.3366G>A (p.Pro1122=)
|
rs199798509
|
0.00004
|
NM_031935.3(HMCN1):c.3999T>A (p.Asn1333Lys)
|
rs575710648
|
0.00004
|
NM_031935.3(HMCN1):c.4851G>A (p.Thr1617=)
|
rs781719479
|
0.00004
|
NM_031935.3(HMCN1):c.498+15A>C
|
rs565661847
|
0.00004
|
NM_031935.3(HMCN1):c.5749+6G>A
|
rs575776317
|
0.00004
|
NM_031935.3(HMCN1):c.6435G>A (p.Leu2145=)
|
rs747509922
|
0.00004
|
NM_031935.3(HMCN1):c.6701-4G>C
|
rs780518184
|
0.00004
|
NM_031935.3(HMCN1):c.6933C>T (p.Ser2311=)
|
rs752504748
|
0.00004
|
NM_031935.3(HMCN1):c.8485+14C>T
|
rs201345841
|
0.00004
|
NM_031935.3(HMCN1):c.8814C>T (p.Ile2938=)
|
rs772602156
|
0.00004
|
NM_031935.3(HMCN1):c.9046+13T>G
|
rs371854479
|
0.00004
|
NM_031935.3(HMCN1):c.9249G>A (p.Ser3083=)
|
rs756117010
|
0.00004
|
NM_031935.3(HMCN1):c.9446-10T>A
|
rs753374697
|
0.00004
|
NM_031935.3(HMCN1):c.10592G>A (p.Gly3531Glu)
|
rs752255369
|
0.00003
|
NM_031935.3(HMCN1):c.10941A>G (p.Ala3647=)
|
rs754756539
|
0.00003
|
NM_031935.3(HMCN1):c.10990-4C>T
|
rs758073795
|
0.00003
|
NM_031935.3(HMCN1):c.12918T>C (p.Ser4306=)
|
rs767191974
|
0.00003
|
NM_031935.3(HMCN1):c.14376G>A (p.Gly4792=)
|
rs907872312
|
0.00003
|
NM_031935.3(HMCN1):c.14547T>C (p.Gly4849=)
|
rs768675698
|
0.00003
|
NM_031935.3(HMCN1):c.16395C>T (p.His5465=)
|
rs771046913
|
0.00003
|
NM_031935.3(HMCN1):c.2304C>T (p.Gly768=)
|
rs373154967
|
0.00003
|
NM_031935.3(HMCN1):c.3874+18A>G
|
rs760678057
|
0.00003
|
NM_031935.3(HMCN1):c.4910-14A>G
|
rs767012387
|
0.00003
|
NM_031935.3(HMCN1):c.5136C>T (p.Cys1712=)
|
rs747541664
|
0.00003
|
NM_031935.3(HMCN1):c.5325T>A (p.Ile1775=)
|
rs571034789
|
0.00003
|
NM_031935.3(HMCN1):c.5669T>C (p.Leu1890Ser)
|
rs199971679
|
0.00003
|
NM_031935.3(HMCN1):c.5852-12T>G
|
rs373816059
|
0.00003
|
NM_031935.3(HMCN1):c.6578-11T>C
|
rs751212954
|
0.00003
|
NM_031935.3(HMCN1):c.6863-6C>T
|
rs202080081
|
0.00003
|
NM_031935.3(HMCN1):c.7079G>A (p.Arg2360His)
|
rs559595305
|
0.00003
|
NM_031935.3(HMCN1):c.10716G>A (p.Thr3572=)
|
rs751195555
|
0.00002
|
NM_031935.3(HMCN1):c.11280T>C (p.Tyr3760=)
|
rs975428696
|
0.00002
|
NM_031935.3(HMCN1):c.11849-18A>T
|
rs372836826
|
0.00002
|
NM_031935.3(HMCN1):c.12230-8T>C
|
rs376872884
|
0.00002
|
NM_031935.3(HMCN1):c.12963G>C (p.Glu4321Asp)
|
rs773577908
|
0.00002
|
NM_031935.3(HMCN1):c.13339G>C (p.Val4447Leu)
|
rs748529848
|
0.00002
|
NM_031935.3(HMCN1):c.15320-7C>T
|
rs745639179
|
0.00002
|
NM_031935.3(HMCN1):c.1557C>A (p.Pro519=)
|
rs767276797
|
0.00002
|
NM_031935.3(HMCN1):c.16295-9C>T
|
rs760760319
|
0.00002
|
NM_031935.3(HMCN1):c.2715G>A (p.Gln905=)
|
rs746210473
|
0.00002
|
NM_031935.3(HMCN1):c.3779-8C>T
|
rs750474171
|
0.00002
|
NM_031935.3(HMCN1):c.4278A>G (p.Ala1426=)
|
rs750045357
|
0.00002
|
NM_031935.3(HMCN1):c.441C>T (p.Ser147=)
|
rs759803254
|
0.00002
|
NM_031935.3(HMCN1):c.4647A>G (p.Lys1549=)
|
rs146365142
|
0.00002
|
NM_031935.3(HMCN1):c.5750-4G>C
|
rs530307991
|
0.00002
|
NM_031935.3(HMCN1):c.6753C>T (p.Gly2251=)
|
rs751790241
|
0.00002
|
NM_031935.3(HMCN1):c.6816G>A (p.Ser2272=)
|
rs760273562
|
0.00002
|
NM_031935.3(HMCN1):c.7955C>T (p.Ala2652Val)
|
rs200327975
|
0.00002
|
NM_031935.3(HMCN1):c.8313C>G (p.Leu2771=)
|
rs776416150
|
0.00002
|
NM_031935.3(HMCN1):c.8764C>A (p.Leu2922Ile)
|
rs200871004
|
0.00002
|
NM_031935.3(HMCN1):c.9047-12A>G
|
rs767424930
|
0.00002
|
NM_031935.3(HMCN1):c.9138A>G (p.Lys3046=)
|
rs779996381
|
0.00002
|
NM_031935.3(HMCN1):c.11276+8T>C
|
rs572790212
|
0.00001
|
NM_031935.3(HMCN1):c.11382G>A (p.Arg3794=)
|
rs530972182
|
0.00001
|
NM_031935.3(HMCN1):c.11766A>G (p.Gly3922=)
|
rs746063194
|
0.00001
|
NM_031935.3(HMCN1):c.12120T>C (p.Ser4040=)
|
rs894169400
|
0.00001
|
NM_031935.3(HMCN1):c.12189G>A (p.Pro4063=)
|
rs886045682
|
0.00001
|
NM_031935.3(HMCN1):c.12453C>A (p.Ala4151=)
|
rs1160639880
|
0.00001
|
NM_031935.3(HMCN1):c.12696G>A (p.Glu4232=)
|
rs747361477
|
0.00001
|
NM_031935.3(HMCN1):c.1285+7C>T
|
rs753115471
|
0.00001
|
NM_031935.3(HMCN1):c.1286-10T>C
|
rs778524547
|
0.00001
|
NM_031935.3(HMCN1):c.13039+12C>T
|
rs778133023
|
0.00001
|
NM_031935.3(HMCN1):c.13281G>C (p.Val4427=)
|
rs377383392
|
0.00001
|
NM_031935.3(HMCN1):c.1338G>A (p.Pro446=)
|
rs763275429
|
0.00001
|
NM_031935.3(HMCN1):c.13554C>T (p.Val4518=)
|
rs1480140095
|
0.00001
|
NM_031935.3(HMCN1):c.13925-20G>C
|
rs756768991
|
0.00001
|
NM_031935.3(HMCN1):c.14034T>G (p.Gly4678=)
|
rs755352114
|
0.00001
|
NM_031935.3(HMCN1):c.14896+8T>A
|
rs767566761
|
0.00001
|
NM_031935.3(HMCN1):c.15450G>A (p.Glu5150=)
|
rs538514435
|
0.00001
|
NM_031935.3(HMCN1):c.15499A>G (p.Thr5167Ala)
|
rs201241621
|
0.00001
|
NM_031935.3(HMCN1):c.1553-12G>T
|
rs1205046727
|
0.00001
|
NM_031935.3(HMCN1):c.15744C>T (p.Thr5248=)
|
rs773089753
|
0.00001
|
NM_031935.3(HMCN1):c.16002C>T (p.Pro5334=)
|
rs373461955
|
0.00001
|
NM_031935.3(HMCN1):c.16294+7G>T
|
rs553948621
|
0.00001
|
NM_031935.3(HMCN1):c.16638C>T (p.Ala5546=)
|
rs1486169938
|
0.00001
|
NM_031935.3(HMCN1):c.1971-15G>A
|
rs1460221233
|
0.00001
|
NM_031935.3(HMCN1):c.2269T>C (p.Leu757=)
|
rs1159764701
|
0.00001
|
NM_031935.3(HMCN1):c.2310T>C (p.Tyr770=)
|
rs1255076720
|
0.00001
|
NM_031935.3(HMCN1):c.2791-9T>C
|
rs780685435
|
0.00001
|
NM_031935.3(HMCN1):c.3208+15A>G
|
rs769373370
|
0.00001
|
NM_031935.3(HMCN1):c.3377+10C>G
|
rs928644972
|
0.00001
|
NM_031935.3(HMCN1):c.4938C>T (p.Ala1646=)
|
rs745685739
|
0.00001
|
NM_031935.3(HMCN1):c.498+11A>C
|
rs770974983
|
0.00001
|
NM_031935.3(HMCN1):c.5091C>T (p.Leu1697=)
|
rs763098500
|
0.00001
|
NM_031935.3(HMCN1):c.540T>C (p.His180=)
|
rs780108870
|
0.00001
|
NM_031935.3(HMCN1):c.5556G>A (p.Gly1852=)
|
rs771819699
|
0.00001
|
NM_031935.3(HMCN1):c.5706C>T (p.Asn1902=)
|
rs769758485
|
0.00001
|
NM_031935.3(HMCN1):c.5721A>G (p.Thr1907=)
|
rs1031893642
|
0.00001
|
NM_031935.3(HMCN1):c.5749+16C>T
|
rs1454526890
|
0.00001
|
NM_031935.3(HMCN1):c.5750-10C>T
|
rs773661619
|
0.00001
|
NM_031935.3(HMCN1):c.6028+15A>G
|
rs779001149
|
0.00001
|
NM_031935.3(HMCN1):c.6181-7T>C
|
rs373788542
|
0.00001
|
NM_031935.3(HMCN1):c.6228C>T (p.Ser2076=)
|
rs777752487
|
0.00001
|
NM_031935.3(HMCN1):c.6420C>T (p.Asp2140=)
|
rs1413433754
|
0.00001
|
NM_031935.3(HMCN1):c.6909T>C (p.Ile2303=)
|
rs767616401
|
0.00001
|
NM_031935.3(HMCN1):c.710G>T (p.Arg237Ile)
|
rs530178194
|
0.00001
|
NM_031935.3(HMCN1):c.7392T>C (p.Gly2464=)
|
rs548624423
|
0.00001
|
NM_031935.3(HMCN1):c.7427-15G>T
|
rs1339019234
|
0.00001
|
NM_031935.3(HMCN1):c.7589C>G (p.Ser2530Cys)
|
rs573119781
|
0.00001
|
NM_031935.3(HMCN1):c.7647A>G (p.Thr2549=)
|
rs368837087
|
0.00001
|
NM_031935.3(HMCN1):c.793+9T>C
|
rs375021941
|
0.00001
|
NM_031935.3(HMCN1):c.7993+16A>G
|
rs1017402724
|
0.00001
|
NM_031935.3(HMCN1):c.8151C>T (p.Ser2717=)
|
rs371109396
|
0.00001
|
NM_031935.3(HMCN1):c.8290+9A>G
|
rs752215784
|
0.00001
|
NM_031935.3(HMCN1):c.8885-17del
|
rs1241301302
|
0.00001
|
NM_031935.3(HMCN1):c.8925C>T (p.Thr2975=)
|
rs768922365
|
0.00001
|
NM_031935.3(HMCN1):c.900+12T>C
|
rs952357263
|
0.00001
|
NM_031935.3(HMCN1):c.9012C>T (p.Pro3004=)
|
rs201032456
|
0.00001
|
NM_031935.3(HMCN1):c.9182A>G (p.His3061Arg)
|
rs748058327
|
0.00001
|
NM_031935.3(HMCN1):c.9564C>T (p.Asn3188=)
|
rs765030856
|
0.00001
|
NM_031935.3(HMCN1):c.9570G>A (p.Lys3190=)
|
rs1195586500
|
0.00001
|
NM_031935.3(HMCN1):c.9888-12T>A
|
rs746649687
|
0.00001
|
NM_031935.3(HMCN1):c.10012+10A>G
|
|
|
NM_031935.3(HMCN1):c.10012+14A>G
|
|
|
NM_031935.3(HMCN1):c.10012+9G>T
|
|
|
NM_031935.3(HMCN1):c.10013-7A>C
|
rs748670419
|
|
NM_031935.3(HMCN1):c.10107G>A (p.Thr3369=)
|
|
|
NM_031935.3(HMCN1):c.10129C>T (p.Leu3377=)
|
|
|
NM_031935.3(HMCN1):c.10140A>G (p.Gly3380=)
|
|
|
NM_031935.3(HMCN1):c.10164T>C (p.His3388=)
|
|
|
NM_031935.3(HMCN1):c.10182A>C (p.Ala3394=)
|
|
|
NM_031935.3(HMCN1):c.1021+15A>T
|
|
|
NM_031935.3(HMCN1):c.1022-7C>T
|
|
|
NM_031935.3(HMCN1):c.10224C>T (p.Val3408=)
|
|
|
NM_031935.3(HMCN1):c.10294+10A>C
|
|
|
NM_031935.3(HMCN1):c.10294+12A>G
|
|
|
NM_031935.3(HMCN1):c.10295-6A>G
|
|
|
NM_031935.3(HMCN1):c.10299A>G (p.Pro3433=)
|
|
|
NM_031935.3(HMCN1):c.10383A>C (p.Gly3461=)
|
|
|
NM_031935.3(HMCN1):c.10389A>C (p.Pro3463=)
|
|
|
NM_031935.3(HMCN1):c.10398T>C (p.Ser3466=)
|
|
|
NM_031935.3(HMCN1):c.10482C>G (p.Leu3494=)
|
|
|
NM_031935.3(HMCN1):c.10512C>T (p.Tyr3504=)
|
|
|
NM_031935.3(HMCN1):c.10545C>A (p.Val3515=)
|
rs2102423250
|
|
NM_031935.3(HMCN1):c.10563C>T (p.Leu3521=)
|
|
|
NM_031935.3(HMCN1):c.10573+13T>C
|
|
|
NM_031935.3(HMCN1):c.10574-10C>T
|
|
|
NM_031935.3(HMCN1):c.10623T>C (p.Ile3541=)
|
|
|
NM_031935.3(HMCN1):c.10632C>T (p.Asn3544=)
|
|
|
NM_031935.3(HMCN1):c.10647C>G (p.Thr3549=)
|
|
|
NM_031935.3(HMCN1):c.10661G>T (p.Gly3554Val)
|
|
|
NM_031935.3(HMCN1):c.10683C>T (p.Thr3561=)
|
|
|
NM_031935.3(HMCN1):c.10704C>T (p.Pro3568=)
|
|
|
NM_031935.3(HMCN1):c.10770+19A>T
|
|
|
NM_031935.3(HMCN1):c.10771-10G>C
|
rs753273442
|
|
NM_031935.3(HMCN1):c.10791T>C (p.Tyr3597=)
|
|
|
NM_031935.3(HMCN1):c.10797T>C (p.Cys3599=)
|
|
|
NM_031935.3(HMCN1):c.10800G>A (p.Leu3600=)
|
rs1571359760
|
|
NM_031935.3(HMCN1):c.10852+18T>C
|
|
|
NM_031935.3(HMCN1):c.10853-18A>G
|
|
|
NM_031935.3(HMCN1):c.10853-5C>A
|
|
|
NM_031935.3(HMCN1):c.10853-7C>T
|
|
|
NM_031935.3(HMCN1):c.10893C>A (p.Ile3631=)
|
|
|
NM_031935.3(HMCN1):c.10896T>C (p.Thr3632=)
|
|
|
NM_031935.3(HMCN1):c.10907A>G (p.Asn3636Ser)
|
|
|
NM_031935.3(HMCN1):c.10944G>A (p.Val3648=)
|
|
|
NM_031935.3(HMCN1):c.10947C>T (p.Pro3649=)
|
|
|
NM_031935.3(HMCN1):c.10953T>C (p.Pro3651=)
|
|
|
NM_031935.3(HMCN1):c.10982G>C (p.Arg3661Pro)
|
rs141818688
|
|
NM_031935.3(HMCN1):c.10989+16A>T
|
|
|
NM_031935.3(HMCN1):c.11040C>T (p.Asn3680=)
|
|
|
NM_031935.3(HMCN1):c.11064C>A (p.Ala3688=)
|
rs2102468918
|
|
NM_031935.3(HMCN1):c.11070T>C (p.Tyr3690=)
|
|
|
NM_031935.3(HMCN1):c.11085C>T (p.Ser3695=)
|
|
|
NM_031935.3(HMCN1):c.11091T>C (p.Ile3697=)
|
|
|
NM_031935.3(HMCN1):c.11106A>G (p.Thr3702=)
|
|
|
NM_031935.3(HMCN1):c.11131+18T>C
|
|
|
NM_031935.3(HMCN1):c.11131+19T>G
|
|
|
NM_031935.3(HMCN1):c.11132-6G>A
|
|
|
NM_031935.3(HMCN1):c.11153G>A (p.Gly3718Asp)
|
|
|
NM_031935.3(HMCN1):c.11157C>T (p.Pro3719=)
|
rs2102471489
|
|
NM_031935.3(HMCN1):c.11220A>G (p.Pro3740=)
|
|
|
NM_031935.3(HMCN1):c.11223T>C (p.Thr3741=)
|
|
|
NM_031935.3(HMCN1):c.11244G>A (p.Lys3748=)
|
|
|
NM_031935.3(HMCN1):c.11274A>G (p.Ala3758=)
|
|
|
NM_031935.3(HMCN1):c.11276+10C>G
|
|
|
NM_031935.3(HMCN1):c.11276+14A>G
|
rs1396302930
|
|
NM_031935.3(HMCN1):c.11276+7A>G
|
rs372107481
|
|
NM_031935.3(HMCN1):c.11277-15T>C
|
|
|
NM_031935.3(HMCN1):c.11277-18T>A
|
|
|
NM_031935.3(HMCN1):c.11277-6T>C
|
|
|
NM_031935.3(HMCN1):c.11277-7C>T
|
|
|
NM_031935.3(HMCN1):c.11277-9C>G
|
|
|
NM_031935.3(HMCN1):c.11313A>G (p.Gln3771=)
|
|
|
NM_031935.3(HMCN1):c.11315C>T (p.Ser3772Leu)
|
|
|
NM_031935.3(HMCN1):c.11319A>C (p.Ala3773=)
|
|
|
NM_031935.3(HMCN1):c.11358C>G (p.Thr3786=)
|
|
|
NM_031935.3(HMCN1):c.11384G>A (p.Arg3795Gln)
|
|
|
NM_031935.3(HMCN1):c.11404+10C>G
|
|
|
NM_031935.3(HMCN1):c.11412A>G (p.Pro3804=)
|
|
|
NM_031935.3(HMCN1):c.11433C>A (p.Thr3811=)
|
|
|
NM_031935.3(HMCN1):c.11433C>T (p.Thr3811=)
|
|
|
NM_031935.3(HMCN1):c.1143A>T (p.Pro381=)
|
|
|
NM_031935.3(HMCN1):c.11463T>A (p.Thr3821=)
|
|
|
NM_031935.3(HMCN1):c.11467C>T (p.Leu3823=)
|
|
|
NM_031935.3(HMCN1):c.11484T>C (p.Thr3828=)
|
|
|
NM_031935.3(HMCN1):c.11523G>A (p.Gly3841=)
|
|
|
NM_031935.3(HMCN1):c.11544A>G (p.Gln3848=)
|
|
|
NM_031935.3(HMCN1):c.11561+20_11561+22del
|
|
|
NM_031935.3(HMCN1):c.11583A>G (p.Leu3861=)
|
|
|
NM_031935.3(HMCN1):c.1158T>C (p.Tyr386=)
|
rs2102477430
|
|
NM_031935.3(HMCN1):c.11664T>C (p.Thr3888=)
|
rs996571894
|
|
NM_031935.3(HMCN1):c.11683+16A>T
|
|
|
NM_031935.3(HMCN1):c.11684-10G>A
|
|
|
NM_031935.3(HMCN1):c.11684-12T>C
|
|
|
NM_031935.3(HMCN1):c.11684-18T>A
|
|
|
NM_031935.3(HMCN1):c.11684-21TTG[4]
|
|
|
NM_031935.3(HMCN1):c.11706G>A (p.Glu3902=)
|
|
|
NM_031935.3(HMCN1):c.1170T>C (p.Asn390=)
|
|
|
NM_031935.3(HMCN1):c.11757T>C (p.Thr3919=)
|
|
|
NM_031935.3(HMCN1):c.11793C>G (p.Thr3931=)
|
|
|
NM_031935.3(HMCN1):c.11848+15del
|
|
|
NM_031935.3(HMCN1):c.11848+7C>T
|
|
|
NM_031935.3(HMCN1):c.11849-10del
|
rs201254359
|
|
NM_031935.3(HMCN1):c.11871C>G (p.Thr3957=)
|
rs370095269
|
|
NM_031935.3(HMCN1):c.11880C>T (p.Asn3960=)
|
|
|
NM_031935.3(HMCN1):c.11895C>T (p.Tyr3965=)
|
rs780038431
|
|
NM_031935.3(HMCN1):c.11904C>T (p.Val3968=)
|
|
|
NM_031935.3(HMCN1):c.1191A>G (p.Pro397=)
|
|
|
NM_031935.3(HMCN1):c.11937C>T (p.His3979=)
|
|
|
NM_031935.3(HMCN1):c.11943C>A (p.Thr3981=)
|
|
|
NM_031935.3(HMCN1):c.11948A>G (p.His3983Arg)
|
|
|
NM_031935.3(HMCN1):c.11956+15T>C
|
|
|
NM_031935.3(HMCN1):c.11956+9_11956+17del
|
|
|
NM_031935.3(HMCN1):c.11957-12G>T
|
|
|
NM_031935.3(HMCN1):c.11957-16_11957-13dup
|
|
|
NM_031935.3(HMCN1):c.11957-9T>C
|
|
|
NM_031935.3(HMCN1):c.12006C>T (p.Asn4002=)
|
|
|
NM_031935.3(HMCN1):c.12060T>C (p.Thr4020=)
|
|
|
NM_031935.3(HMCN1):c.12066A>G (p.Gln4022=)
|
|
|
NM_031935.3(HMCN1):c.12094+11C>A
|
|
|
NM_031935.3(HMCN1):c.12095-18T>A
|
|
|
NM_031935.3(HMCN1):c.12102C>T (p.Asn4034=)
|
|
|
NM_031935.3(HMCN1):c.12111T>A (p.Val4037=)
|
|
|
NM_031935.3(HMCN1):c.12123C>T (p.Gly4041=)
|
|
|
NM_031935.3(HMCN1):c.12183G>A (p.Gln4061=)
|
|
|
NM_031935.3(HMCN1):c.12186C>T (p.Asn4062=)
|
|
|
NM_031935.3(HMCN1):c.12201C>T (p.Ala4067=)
|
|
|
NM_031935.3(HMCN1):c.12229+20_12229+21del
|
|
|
NM_031935.3(HMCN1):c.12230-11G>C
|
|
|
NM_031935.3(HMCN1):c.12246C>T (p.Ser4082=)
|
|
|
NM_031935.3(HMCN1):c.12258G>A (p.Lys4086=)
|
|
|
NM_031935.3(HMCN1):c.12333A>C (p.Thr4111=)
|
|
|
NM_031935.3(HMCN1):c.12333A>G (p.Thr4111=)
|
|
|
NM_031935.3(HMCN1):c.1233T>C (p.Asp411=)
|
|
|
NM_031935.3(HMCN1):c.12348G>A (p.Gly4116=)
|
|
|
NM_031935.3(HMCN1):c.12378C>T (p.Arg4126=)
|
|
|
NM_031935.3(HMCN1):c.12402A>G (p.Gln4134=)
|
|
|
NM_031935.3(HMCN1):c.12456T>C (p.Asn4152=)
|
|
|
NM_031935.3(HMCN1):c.12500-15_12500-14del
|
|
|
NM_031935.3(HMCN1):c.12500-8C>T
|
|
|
NM_031935.3(HMCN1):c.12507C>G (p.Pro4169=)
|
|
|
NM_031935.3(HMCN1):c.12537G>A (p.Thr4179=)
|
|
|
NM_031935.3(HMCN1):c.12603C>T (p.Asn4201=)
|
|
|
NM_031935.3(HMCN1):c.12624T>C (p.Leu4208=)
|
|
|
NM_031935.3(HMCN1):c.12654T>C (p.Ala4218=)
|
|
|
NM_031935.3(HMCN1):c.12690+15C>G
|
rs374516199
|
|
NM_031935.3(HMCN1):c.12690+15C>T
|
|
|
NM_031935.3(HMCN1):c.12690+3_12690+7dup
|
rs750497296
|
|
NM_031935.3(HMCN1):c.12691-16C>T
|
|
|
NM_031935.3(HMCN1):c.12691-17A>C
|
|
|
NM_031935.3(HMCN1):c.12720T>C (p.Val4240=)
|
|
|
NM_031935.3(HMCN1):c.12744T>C (p.Asp4248=)
|
|
|
NM_031935.3(HMCN1):c.12753T>A (p.Thr4251=)
|
rs1349163721
|
|
NM_031935.3(HMCN1):c.12765T>A (p.Thr4255=)
|
|
|
NM_031935.3(HMCN1):c.12777C>T (p.Leu4259=)
|
rs758029050
|
|
NM_031935.3(HMCN1):c.12807G>A (p.Val4269=)
|
|
|
NM_031935.3(HMCN1):c.1286-18T>A
|
|
|
NM_031935.3(HMCN1):c.12861A>G (p.Pro4287=)
|
rs151052679
|
|
NM_031935.3(HMCN1):c.12904+14T>C
|
rs1661747290
|
|
NM_031935.3(HMCN1):c.12905-18G>T
|
|
|
NM_031935.3(HMCN1):c.12906C>G (p.Ala4302=)
|
rs144437187
|
|
NM_031935.3(HMCN1):c.12957A>C (p.Ser4319=)
|
|
|
NM_031935.3(HMCN1):c.12978T>C (p.Tyr4326=)
|
|
|
NM_031935.3(HMCN1):c.12979G>A (p.Val4327Met)
|
|
|
NM_031935.3(HMCN1):c.13017A>G (p.Ala4339=)
|
|
|
NM_031935.3(HMCN1):c.13039+19_13039+24del
|
|
|
NM_031935.3(HMCN1):c.13040-12del
|
|
|
NM_031935.3(HMCN1):c.13040-17C>A
|
rs188408113
|
|
NM_031935.3(HMCN1):c.13040-18T>A
|
|
|
NM_031935.3(HMCN1):c.13047A>C (p.Pro4349=)
|
|
|
NM_031935.3(HMCN1):c.13209C>T (p.Ser4403=)
|
|
|
NM_031935.3(HMCN1):c.1320A>G (p.Pro440=)
|
|
|
NM_031935.3(HMCN1):c.13227T>C (p.Thr4409=)
|
|
|
NM_031935.3(HMCN1):c.13230+7C>T
|
|
|
NM_031935.3(HMCN1):c.13231-14del
|
|
|
NM_031935.3(HMCN1):c.13231-17G>T
|
|
|
NM_031935.3(HMCN1):c.13233T>C (p.Asn4411=)
|
|
|
NM_031935.3(HMCN1):c.1323A>G (p.Gly441=)
|
|
|
NM_031935.3(HMCN1):c.13278G>A (p.Gly4426=)
|
|
|
NM_031935.3(HMCN1):c.13313-14G>A
|
|
|
NM_031935.3(HMCN1):c.13335G>A (p.Glu4445=)
|
|
|
NM_031935.3(HMCN1):c.13347T>A (p.Thr4449=)
|
|
|
NM_031935.3(HMCN1):c.13375T>C (p.Leu4459=)
|
|
|
NM_031935.3(HMCN1):c.13386G>A (p.Gln4462=)
|
|
|
NM_031935.3(HMCN1):c.13407A>G (p.Pro4469=)
|
|
|
NM_031935.3(HMCN1):c.13416A>G (p.Thr4472=)
|
|
|
NM_031935.3(HMCN1):c.13434C>T (p.His4478=)
|
|
|
NM_031935.3(HMCN1):c.13512C>T (p.Thr4504=)
|
rs1253360365
|
|
NM_031935.3(HMCN1):c.13542A>G (p.Leu4514=)
|
rs2102533848
|
|
NM_031935.3(HMCN1):c.13554C>A (p.Val4518=)
|
|
|
NM_031935.3(HMCN1):c.1359T>G (p.Val453=)
|
|
|
NM_031935.3(HMCN1):c.13626T>C (p.Ser4542=)
|
|
|
NM_031935.3(HMCN1):c.13659T>C (p.Ser4553=)
|
|
|
NM_031935.3(HMCN1):c.13686C>G (p.Ala4562=)
|
|
|
NM_031935.3(HMCN1):c.13689T>C (p.Asn4563=)
|
|
|
NM_031935.3(HMCN1):c.13695G>A (p.Gly4565=)
|
|
|
NM_031935.3(HMCN1):c.13695G>C (p.Gly4565=)
|
rs944831596
|
|
NM_031935.3(HMCN1):c.13753+10C>T
|
|
|
NM_031935.3(HMCN1):c.13754-19A>C
|
|
|
NM_031935.3(HMCN1):c.13797A>G (p.Thr4599=)
|
|
|
NM_031935.3(HMCN1):c.13800G>A (p.Arg4600=)
|
|
|
NM_031935.3(HMCN1):c.13812C>T (p.Arg4604=)
|
|
|
NM_031935.3(HMCN1):c.13867C>T (p.Arg4623Trp)
|
|
|
NM_031935.3(HMCN1):c.13881G>A (p.Gly4627=)
|
|
|
NM_031935.3(HMCN1):c.13881G>C (p.Gly4627=)
|
|
|
NM_031935.3(HMCN1):c.13908C>T (p.Asn4636=)
|
|
|
NM_031935.3(HMCN1):c.13925-18C>G
|
|
|
NM_031935.3(HMCN1):c.1392C>T (p.Val464=)
|
|
|
NM_031935.3(HMCN1):c.13941C>T (p.Ser4647=)
|
|
|
NM_031935.3(HMCN1):c.1407A>G (p.Thr469=)
|
|
|
NM_031935.3(HMCN1):c.14088T>C (p.Asn4696=)
|
|
|
NM_031935.3(HMCN1):c.14095+15_14095+16del
|
rs1650151052
|
|
NM_031935.3(HMCN1):c.14096-18C>G
|
|
|
NM_031935.3(HMCN1):c.14096-4C>G
|
|
|
NM_031935.3(HMCN1):c.14112G>A (p.Ala4704=)
|
|
|
NM_031935.3(HMCN1):c.14160C>T (p.Ala4720=)
|
|
|
NM_031935.3(HMCN1):c.14162G>C (p.Arg4721Thr)
|
|
|
NM_031935.3(HMCN1):c.14184C>T (p.Ser4728=)
|
|
|
NM_031935.3(HMCN1):c.14196C>A (p.Pro4732=)
|
|
|
NM_031935.3(HMCN1):c.14199G>A (p.Gln4733=)
|
|
|
NM_031935.3(HMCN1):c.14217C>T (p.Cys4739=)
|
|
|
NM_031935.3(HMCN1):c.14266+19_14266+22del
|
rs770465309
|
|
NM_031935.3(HMCN1):c.1430+10T>C
|
|
|
NM_031935.3(HMCN1):c.1430+16T>C
|
|
|
NM_031935.3(HMCN1):c.1431-18C>T
|
|
|
NM_031935.3(HMCN1):c.14316G>A (p.Thr4772=)
|
|
|
NM_031935.3(HMCN1):c.14316G>C (p.Thr4772=)
|
|
|
NM_031935.3(HMCN1):c.14328G>A (p.Gly4776=)
|
|
|
NM_031935.3(HMCN1):c.14340G>T (p.Arg4780=)
|
|
|
NM_031935.3(HMCN1):c.1434A>G (p.Glu478=)
|
|
|
NM_031935.3(HMCN1):c.14364T>C (p.Pro4788=)
|
|
|
NM_031935.3(HMCN1):c.14373T>C (p.Asn4791=)
|
|
|
NM_031935.3(HMCN1):c.14397A>C (p.Pro4799=)
|
|
|
NM_031935.3(HMCN1):c.14437+20G>C
|
|
|
NM_031935.3(HMCN1):c.14437+7C>G
|
|
|
NM_031935.3(HMCN1):c.1443T>C (p.Ser481=)
|
|
|
NM_031935.3(HMCN1):c.14478C>T (p.Cys4826=)
|
|
|
NM_031935.3(HMCN1):c.14502A>G (p.Glu4834=)
|
|
|
NM_031935.3(HMCN1):c.14523C>T (p.Cys4841=)
|
|
|
NM_031935.3(HMCN1):c.14583C>T (p.Thr4861=)
|
|
|
NM_031935.3(HMCN1):c.14597A>T (p.Gln4866Leu)
|
|
|
NM_031935.3(HMCN1):c.14598A>G (p.Gln4866=)
|
|
|
NM_031935.3(HMCN1):c.14608+9C>G
|
|
|
NM_031935.3(HMCN1):c.14609-13T>G
|
|
|
NM_031935.3(HMCN1):c.14609-16T>C
|
|
|
NM_031935.3(HMCN1):c.14609-19T>C
|
|
|
NM_031935.3(HMCN1):c.14609-19T>G
|
|
|
NM_031935.3(HMCN1):c.14609-7C>G
|
|
|
NM_031935.3(HMCN1):c.14609-8C>T
|
|
|
NM_031935.3(HMCN1):c.14616C>A (p.Pro4872=)
|
rs2102573631
|
|
NM_031935.3(HMCN1):c.14625C>T (p.Ala4875=)
|
|
|
NM_031935.3(HMCN1):c.14709T>G (p.Ser4903=)
|
|
|
NM_031935.3(HMCN1):c.14738C>A (p.Thr4913Asn)
|
rs138232561
|
|
NM_031935.3(HMCN1):c.14758+15dup
|
rs930917760
|
|
NM_031935.3(HMCN1):c.14759-14T>C
|
|
|
NM_031935.3(HMCN1):c.14759-19T>C
|
|
|
NM_031935.3(HMCN1):c.14759-7del
|
rs756561243
|
|
NM_031935.3(HMCN1):c.14784T>C (p.Ser4928=)
|
|
|
NM_031935.3(HMCN1):c.14796C>T (p.Pro4932=)
|
|
|
NM_031935.3(HMCN1):c.14853C>T (p.Thr4951=)
|
rs1650674909
|
|
NM_031935.3(HMCN1):c.14859A>G (p.Ala4953=)
|
|
|
NM_031935.3(HMCN1):c.14896+7G>A
|
|
|
NM_031935.3(HMCN1):c.14897-11G>A
|
|
|
NM_031935.3(HMCN1):c.14897-3del
|
|
|
NM_031935.3(HMCN1):c.14897-8del
|
|
|
NM_031935.3(HMCN1):c.14931C>T (p.Gly4977=)
|
|
|
NM_031935.3(HMCN1):c.14940C>T (p.Ser4980=)
|
|
|
NM_031935.3(HMCN1):c.15019-15C>T
|
|
|
NM_031935.3(HMCN1):c.1503T>C (p.Ala501=)
|
|
|
NM_031935.3(HMCN1):c.15069C>T (p.Tyr5023=)
|
|
|
NM_031935.3(HMCN1):c.15126C>T (p.Thr5042=)
|
|
|
NM_031935.3(HMCN1):c.15129T>C (p.Val5043=)
|
|
|
NM_031935.3(HMCN1):c.15189T>G (p.Ser5063=)
|
rs978134981
|
|
NM_031935.3(HMCN1):c.15240T>C (p.His5080=)
|
|
|
NM_031935.3(HMCN1):c.15256+15G>C
|
|
|
NM_031935.3(HMCN1):c.15256+7dup
|
|
|
NM_031935.3(HMCN1):c.1527G>A (p.Arg509=)
|
|
|
NM_031935.3(HMCN1):c.1527G>C (p.Arg509=)
|
|
|
NM_031935.3(HMCN1):c.15288T>C (p.Phe5096=)
|
|
|
NM_031935.3(HMCN1):c.15300A>G (p.Ser5100=)
|
|
|
NM_031935.3(HMCN1):c.15320-8T>C
|
|
|
NM_031935.3(HMCN1):c.15330A>G (p.Glu5110=)
|
|
|
NM_031935.3(HMCN1):c.1536A>G (p.Thr512=)
|
|
|
NM_031935.3(HMCN1):c.15387C>T (p.Tyr5129=)
|
|
|
NM_031935.3(HMCN1):c.15390C>T (p.Cys5130=)
|
|
|
NM_031935.3(HMCN1):c.15439+7A>C
|
|
|
NM_031935.3(HMCN1):c.15440-11C>T
|
|
|
NM_031935.3(HMCN1):c.15477C>T (p.His5159=)
|
|
|
NM_031935.3(HMCN1):c.15514C>T (p.Arg5172Cys)
|
|
|
NM_031935.3(HMCN1):c.1552+9del
|
|
|
NM_031935.3(HMCN1):c.1553-20A>C
|
|
|
NM_031935.3(HMCN1):c.1553-7C>G
|
|
|
NM_031935.3(HMCN1):c.15574+16C>A
|
|
|
NM_031935.3(HMCN1):c.15574+20T>C
|
|
|
NM_031935.3(HMCN1):c.15574+7A>C
|
|
|
NM_031935.3(HMCN1):c.15574+8A>G
|
|
|
NM_031935.3(HMCN1):c.15575-19G>A
|
rs960957594
|
|
NM_031935.3(HMCN1):c.15575-20A>C
|
|
|
NM_031935.3(HMCN1):c.15603C>T (p.Pro5201=)
|
|
|
NM_031935.3(HMCN1):c.15645T>C (p.Cys5215=)
|
|
|
NM_031935.3(HMCN1):c.15669C>G (p.Leu5223=)
|
rs1571459156
|
|
NM_031935.3(HMCN1):c.15684C>T (p.Cys5228=)
|
|
|
NM_031935.3(HMCN1):c.15689-10T>C
|
|
|
NM_031935.3(HMCN1):c.15696C>T (p.Asn5232=)
|
|
|
NM_031935.3(HMCN1):c.15815-20C>T
|
|
|
NM_031935.3(HMCN1):c.15815-4G>A
|
|
|
NM_031935.3(HMCN1):c.15828T>C (p.Cys5276=)
|
|
|
NM_031935.3(HMCN1):c.15834T>C (p.Asp5278=)
|
rs538516291
|
|
NM_031935.3(HMCN1):c.15885C>T (p.Ser5295=)
|
|
|
NM_031935.3(HMCN1):c.15936C>T (p.Pro5312=)
|
|
|
NM_031935.3(HMCN1):c.15943+19G>A
|
|
|
NM_031935.3(HMCN1):c.15944-14T>C
|
|
|
NM_031935.3(HMCN1):c.15944-16C>T
|
|
|
NM_031935.3(HMCN1):c.15944-4G>A
|
|
|
NM_031935.3(HMCN1):c.15944-6G>A
|
|
|
NM_031935.3(HMCN1):c.15996C>T (p.Asn5332=)
|
|
|
NM_031935.3(HMCN1):c.16039T>C (p.Leu5347=)
|
|
|
NM_031935.3(HMCN1):c.16047G>T (p.Gly5349=)
|
|
|
NM_031935.3(HMCN1):c.1605G>A (p.Glu535=)
|
rs1667663391
|
|
NM_031935.3(HMCN1):c.16062C>T (p.Cys5354=)
|
|
|
NM_031935.3(HMCN1):c.16095T>A (p.Thr5365=)
|
|
|
NM_031935.3(HMCN1):c.16101C>T (p.Tyr5367=)
|
|
|
NM_031935.3(HMCN1):c.16125C>T (p.Phe5375=)
|
|
|
NM_031935.3(HMCN1):c.16143C>T (p.Asn5381=)
|
rs1652746737
|
|
NM_031935.3(HMCN1):c.16295-17G>C
|
|
|
NM_031935.3(HMCN1):c.16305A>G (p.Glu5435=)
|
rs2102667361
|
|
NM_031935.3(HMCN1):c.16314T>C (p.Asn5438=)
|
|
|
NM_031935.3(HMCN1):c.16347C>T (p.Thr5449=)
|
|
|
NM_031935.3(HMCN1):c.16407A>G (p.Thr5469=)
|
|
|
NM_031935.3(HMCN1):c.16414+15G>C
|
|
|
NM_031935.3(HMCN1):c.16414+19del
|
rs2102667792
|
|
NM_031935.3(HMCN1):c.16542-20G>T
|
|
|
NM_031935.3(HMCN1):c.16590C>T (p.Ser5530=)
|
|
|
NM_031935.3(HMCN1):c.16593A>C (p.Pro5531=)
|
|
|
NM_031935.3(HMCN1):c.16614C>T (p.Leu5538=)
|
|
|
NM_031935.3(HMCN1):c.16647A>G (p.Gln5549=)
|
|
|
NM_031935.3(HMCN1):c.16674A>G (p.Thr5558=)
|
|
|
NM_031935.3(HMCN1):c.16695C>T (p.Pro5565=)
|
|
|
NM_031935.3(HMCN1):c.16701A>T (p.Thr5567=)
|
|
|
NM_031935.3(HMCN1):c.16710C>T (p.Leu5570=)
|
|
|
NM_031935.3(HMCN1):c.16746G>A (p.Leu5582=)
|
|
|
NM_031935.3(HMCN1):c.16759C>G (p.Leu5587Val)
|
|
|
NM_031935.3(HMCN1):c.16779A>G (p.Thr5593=)
|
|
|
NM_031935.3(HMCN1):c.16792C>A (p.Arg5598=)
|
|
|
NM_031935.3(HMCN1):c.16827C>T (p.Ala5609=)
|
|
|
NM_031935.3(HMCN1):c.16881T>C (p.Tyr5627=)
|
|
|
NM_031935.3(HMCN1):c.1698G>A (p.Ala566=)
|
|
|
NM_031935.3(HMCN1):c.1719T>C (p.Asn573=)
|
|
|
NM_031935.3(HMCN1):c.1725A>G (p.Ser575=)
|
|
|
NM_031935.3(HMCN1):c.1752C>T (p.Asn584=)
|
|
|
NM_031935.3(HMCN1):c.1779T>C (p.Val593=)
|
|
|
NM_031935.3(HMCN1):c.1800A>G (p.Ser600=)
|
|
|
NM_031935.3(HMCN1):c.1803C>T (p.Ala601=)
|
|
|
NM_031935.3(HMCN1):c.1828+12T>C
|
|
|
NM_031935.3(HMCN1):c.1829-18G>T
|
|
|
NM_031935.3(HMCN1):c.1863G>A (p.Gln621=)
|
|
|
NM_031935.3(HMCN1):c.1944C>T (p.Asn648=)
|
|
|
NM_031935.3(HMCN1):c.1971-12T>A
|
|
|
NM_031935.3(HMCN1):c.2016T>A (p.Ala672=)
|
|
|
NM_031935.3(HMCN1):c.2031G>T (p.Gly677=)
|
|
|
NM_031935.3(HMCN1):c.2040T>A (p.Gly680=)
|
|
|
NM_031935.3(HMCN1):c.207G>A (p.Thr69=)
|
|
|
NM_031935.3(HMCN1):c.2099-17G>A
|
|
|
NM_031935.3(HMCN1):c.2099-18C>T
|
|
|
NM_031935.3(HMCN1):c.2118A>T (p.Val706=)
|
|
|
NM_031935.3(HMCN1):c.2212+12C>G
|
|
|
NM_031935.3(HMCN1):c.2213-12G>A
|
rs1393749923
|
|
NM_031935.3(HMCN1):c.2213-16C>G
|
|
|
NM_031935.3(HMCN1):c.2213-17C>T
|
|
|
NM_031935.3(HMCN1):c.2213-19C>T
|
rs760811951
|
|
NM_031935.3(HMCN1):c.2213-7G>A
|
|
|
NM_031935.3(HMCN1):c.2223G>A (p.Glu741=)
|
|
|
NM_031935.3(HMCN1):c.2235A>T (p.Ser745=)
|
|
|
NM_031935.3(HMCN1):c.2244C>T (p.Leu748=)
|
|
|
NM_031935.3(HMCN1):c.2325C>T (p.Ile775=)
|
|
|
NM_031935.3(HMCN1):c.2372-20T>C
|
|
|
NM_031935.3(HMCN1):c.243T>C (p.Phe81=)
|
|
|
NM_031935.3(HMCN1):c.2443T>C (p.Tyr815His)
|
|
|
NM_031935.3(HMCN1):c.2448T>C (p.Val816=)
|
|
|
NM_031935.3(HMCN1):c.252G>A (p.Val84=)
|
|
|
NM_031935.3(HMCN1):c.2562T>C (p.Ile854=)
|
|
|
NM_031935.3(HMCN1):c.2567-14G>A
|
|
|
NM_031935.3(HMCN1):c.2567-7C>T
|
|
|
NM_031935.3(HMCN1):c.2616G>A (p.Gln872=)
|
|
|
NM_031935.3(HMCN1):c.264T>C (p.Asp88=)
|
|
|
NM_031935.3(HMCN1):c.2652G>C (p.Val884=)
|
|
|
NM_031935.3(HMCN1):c.2655C>T (p.Thr885=)
|
rs1306644036
|
|
NM_031935.3(HMCN1):c.2663-20T>C
|
|
|
NM_031935.3(HMCN1):c.2663-6A>C
|
|
|
NM_031935.3(HMCN1):c.2663-6A>T
|
rs376950753
|
|
NM_031935.3(HMCN1):c.269-20T>C
|
|
|
NM_031935.3(HMCN1):c.2727G>A (p.Leu909=)
|
rs775972475
|
|
NM_031935.3(HMCN1):c.2737C>T (p.Leu913=)
|
rs1558115859
|
|
NM_031935.3(HMCN1):c.2739G>A (p.Leu913=)
|
|
|
NM_031935.3(HMCN1):c.2748A>G (p.Gly916=)
|
|
|
NM_031935.3(HMCN1):c.2758C>T (p.Pro920Ser)
|
|
|
NM_031935.3(HMCN1):c.2761G>C (p.Glu921Gln)
|
rs568780532
|
|
NM_031935.3(HMCN1):c.276C>T (p.Gly92=)
|
|
|
NM_031935.3(HMCN1):c.2791-16T>G
|
|
|
NM_031935.3(HMCN1):c.2791-17T>A
|
|
|
NM_031935.3(HMCN1):c.2791-20A>C
|
|
|
NM_031935.3(HMCN1):c.2808C>T (p.Tyr936=)
|
|
|
NM_031935.3(HMCN1):c.2835C>A (p.Leu945=)
|
|
|
NM_031935.3(HMCN1):c.2838T>C (p.His946=)
|
|
|
NM_031935.3(HMCN1):c.2922T>C (p.Ser974=)
|
|
|
NM_031935.3(HMCN1):c.2925G>T (p.Val975=)
|
|
|
NM_031935.3(HMCN1):c.2935+11C>T
|
|
|
NM_031935.3(HMCN1):c.2935+16A>G
|
|
|
NM_031935.3(HMCN1):c.2935+18T>C
|
|
|
NM_031935.3(HMCN1):c.2936-14A>G
|
|
|
NM_031935.3(HMCN1):c.2955T>C (p.His985=)
|
|
|
NM_031935.3(HMCN1):c.3003A>T (p.Pro1001=)
|
|
|
NM_031935.3(HMCN1):c.3045C>G (p.Ser1015=)
|
|
|
NM_031935.3(HMCN1):c.3048+7G>A
|
|
|
NM_031935.3(HMCN1):c.3049-11G>A
|
|
|
NM_031935.3(HMCN1):c.3049-12C>T
|
|
|
NM_031935.3(HMCN1):c.3049-14G>A
|
|
|
NM_031935.3(HMCN1):c.3049-15C>T
|
|
|
NM_031935.3(HMCN1):c.3066A>T (p.Ser1022=)
|
|
|
NM_031935.3(HMCN1):c.3084T>C (p.Phe1028=)
|
|
|
NM_031935.3(HMCN1):c.30A>G (p.Val10=)
|
|
|
NM_031935.3(HMCN1):c.3153C>T (p.Cys1051=)
|
|
|
NM_031935.3(HMCN1):c.3171C>T (p.Ala1057=)
|
|
|
NM_031935.3(HMCN1):c.3198A>G (p.Leu1066=)
|
|
|
NM_031935.3(HMCN1):c.3208+6A>T
|
|
|
NM_031935.3(HMCN1):c.3209-11G>A
|
|
|
NM_031935.3(HMCN1):c.3209-14T>C
|
|
|
NM_031935.3(HMCN1):c.3209-15A>T
|
|
|
NM_031935.3(HMCN1):c.3222G>T (p.Val1074=)
|
|
|
NM_031935.3(HMCN1):c.3234A>G (p.Gln1078=)
|
|
|
NM_031935.3(HMCN1):c.3255G>A (p.Lys1085=)
|
|
|
NM_031935.3(HMCN1):c.3270C>T (p.Ser1090=)
|
|
|
NM_031935.3(HMCN1):c.3336T>A (p.Thr1112=)
|
|
|
NM_031935.3(HMCN1):c.3372T>A (p.Ser1124=)
|
|
|
NM_031935.3(HMCN1):c.3378-20A>G
|
|
|
NM_031935.3(HMCN1):c.3389T>A (p.Leu1130His)
|
|
|
NM_031935.3(HMCN1):c.339+17A>G
|
|
|
NM_031935.3(HMCN1):c.339+19T>A
|
|
|
NM_031935.3(HMCN1):c.340-3C>T
|
|
|
NM_031935.3(HMCN1):c.340-9A>G
|
|
|
NM_031935.3(HMCN1):c.3462T>C (p.Asn1154=)
|
|
|
NM_031935.3(HMCN1):c.3498T>C (p.Asn1166=)
|
rs2102037213
|
|
NM_031935.3(HMCN1):c.3505+12A>G
|
|
|
NM_031935.3(HMCN1):c.3506-18C>G
|
|
|
NM_031935.3(HMCN1):c.3510T>G (p.Pro1170=)
|
|
|
NM_031935.3(HMCN1):c.3576T>C (p.Cys1192=)
|
|
|
NM_031935.3(HMCN1):c.3654T>C (p.His1218=)
|
|
|
NM_031935.3(HMCN1):c.375T>C (p.Ala125=)
|
|
|
NM_031935.3(HMCN1):c.3778+14C>T
|
|
|
NM_031935.3(HMCN1):c.3792G>A (p.Val1264=)
|
rs2102052524
|
|
NM_031935.3(HMCN1):c.3810A>G (p.Pro1270=)
|
|
|
NM_031935.3(HMCN1):c.3864T>C (p.Cys1288=)
|
rs374949796
|
|
NM_031935.3(HMCN1):c.3870A>G (p.Ala1290=)
|
|
|
NM_031935.3(HMCN1):c.3875-14A>G
|
|
|
NM_031935.3(HMCN1):c.3919T>C (p.Leu1307=)
|
|
|
NM_031935.3(HMCN1):c.3927C>T (p.Gly1309=)
|
|
|
NM_031935.3(HMCN1):c.4011C>T (p.Ile1337=)
|
|
|
NM_031935.3(HMCN1):c.4029A>G (p.Glu1343=)
|
rs368008071
|
|
NM_031935.3(HMCN1):c.4070-10C>G
|
|
|
NM_031935.3(HMCN1):c.4070-14C>G
|
|
|
NM_031935.3(HMCN1):c.4070-19G>A
|
|
|
NM_031935.3(HMCN1):c.4077A>G (p.Pro1359=)
|
|
|
NM_031935.3(HMCN1):c.4089T>C (p.Asp1363=)
|
rs1388895645
|
|
NM_031935.3(HMCN1):c.4107T>C (p.Asn1369=)
|
|
|
NM_031935.3(HMCN1):c.4110G>C (p.Val1370=)
|
|
|
NM_031935.3(HMCN1):c.4113G>A (p.Ser1371=)
|
|
|
NM_031935.3(HMCN1):c.4113G>C (p.Ser1371=)
|
|
|
NM_031935.3(HMCN1):c.4119G>A (p.Leu1373=)
|
|
|
NM_031935.3(HMCN1):c.4200+19A>G
|
|
|
NM_031935.3(HMCN1):c.4200+19dup
|
|
|
NM_031935.3(HMCN1):c.4201-9C>T
|
|
|
NM_031935.3(HMCN1):c.4224G>A (p.Gln1408=)
|
|
|
NM_031935.3(HMCN1):c.4246C>T (p.Leu1416=)
|
|
|
NM_031935.3(HMCN1):c.4344G>A (p.Val1448=)
|
|
|
NM_031935.3(HMCN1):c.4348+18T>A
|
|
|
NM_031935.3(HMCN1):c.4349-17C>T
|
|
|
NM_031935.3(HMCN1):c.4349-7G>T
|
|
|
NM_031935.3(HMCN1):c.4353A>G (p.Pro1451=)
|
|
|
NM_031935.3(HMCN1):c.4377C>T (p.Phe1459=)
|
rs2102075523
|
|
NM_031935.3(HMCN1):c.438G>A (p.Arg146=)
|
|
|
NM_031935.3(HMCN1):c.4401C>T (p.Leu1467=)
|
|
|
NM_031935.3(HMCN1):c.4410C>T (p.Asp1470=)
|
|
|
NM_031935.3(HMCN1):c.4475+15T>C
|
|
|
NM_031935.3(HMCN1):c.4491C>T (p.Gly1497=)
|
|
|
NM_031935.3(HMCN1):c.4506A>G (p.Glu1502=)
|
rs2102094572
|
|
NM_031935.3(HMCN1):c.4521A>G (p.Gly1507=)
|
|
|
NM_031935.3(HMCN1):c.453G>A (p.Arg151=)
|
|
|
NM_031935.3(HMCN1):c.4547G>A (p.Arg1516Gln)
|
|
|
NM_031935.3(HMCN1):c.4557C>T (p.Asp1519=)
|
|
|
NM_031935.3(HMCN1):c.456C>T (p.Leu152=)
|
|
|
NM_031935.3(HMCN1):c.4630+11T>C
|
|
|
NM_031935.3(HMCN1):c.4630+8C>A
|
|
|
NM_031935.3(HMCN1):c.4631-19G>A
|
rs2102131358
|
|
NM_031935.3(HMCN1):c.4632T>A (p.Ile1544=)
|
|
|
NM_031935.3(HMCN1):c.4678T>C (p.Leu1560=)
|
|
|
NM_031935.3(HMCN1):c.4713A>G (p.Thr1571=)
|
|
|
NM_031935.3(HMCN1):c.4782A>T (p.Ala1594=)
|
|
|
NM_031935.3(HMCN1):c.4797A>G (p.Lys1599=)
|
rs768356336
|
|
NM_031935.3(HMCN1):c.480C>T (p.Ile160=)
|
|
|
NM_031935.3(HMCN1):c.4816C>A (p.Pro1606Thr)
|
|
|
NM_031935.3(HMCN1):c.4839A>G (p.Ser1613=)
|
|
|
NM_031935.3(HMCN1):c.4909+14T>C
|
|
|
NM_031935.3(HMCN1):c.4909+15_4909+18dup
|
|
|
NM_031935.3(HMCN1):c.4910-10_4910-3dup
|
|
|
NM_031935.3(HMCN1):c.4938C>A (p.Ala1646=)
|
|
|
NM_031935.3(HMCN1):c.4941G>A (p.Thr1647=)
|
|
|
NM_031935.3(HMCN1):c.4947G>A (p.Leu1649=)
|
rs2102135818
|
|
NM_031935.3(HMCN1):c.498+17C>T
|
|
|
NM_031935.3(HMCN1):c.498+18C>T
|
|
|
NM_031935.3(HMCN1):c.499-12T>G
|
|
|
NM_031935.3(HMCN1):c.499-15T>G
|
|
|
NM_031935.3(HMCN1):c.499-6T>A
|
|
|
NM_031935.3(HMCN1):c.4996G>T (p.Ala1666Ser)
|
|
|
NM_031935.3(HMCN1):c.5036G>A (p.Gly1679Asp)
|
|
|
NM_031935.3(HMCN1):c.5043T>C (p.Pro1681=)
|
rs1406363098
|
|
NM_031935.3(HMCN1):c.5076T>C (p.Ala1692=)
|
|
|
NM_031935.3(HMCN1):c.5079T>C (p.Gly1693=)
|
|
|
NM_031935.3(HMCN1):c.5142T>A (p.Ala1714=)
|
|
|
NM_031935.3(HMCN1):c.5154A>G (p.Ala1718=)
|
|
|
NM_031935.3(HMCN1):c.5169C>A (p.Ile1723=)
|
|
|
NM_031935.3(HMCN1):c.5184T>C (p.Asp1728=)
|
|
|
NM_031935.3(HMCN1):c.5188T>C (p.Leu1730=)
|
|
|
NM_031935.3(HMCN1):c.5191+11A>T
|
|
|
NM_031935.3(HMCN1):c.5191+20C>T
|
|
|
NM_031935.3(HMCN1):c.5191+9G>A
|
|
|
NM_031935.3(HMCN1):c.5192-18A>G
|
|
|
NM_031935.3(HMCN1):c.5254C>T (p.Leu1752=)
|
|
|
NM_031935.3(HMCN1):c.5300+12G>C
|
|
|
NM_031935.3(HMCN1):c.5300+7G>A
|
rs367562861
|
|
NM_031935.3(HMCN1):c.5301-12del
|
|
|
NM_031935.3(HMCN1):c.5301-14G>C
|
|
|
NM_031935.3(HMCN1):c.5301-20C>T
|
|
|
NM_031935.3(HMCN1):c.5364C>T (p.Arg1788=)
|
|
|
NM_031935.3(HMCN1):c.5433T>C (p.Ala1811=)
|
|
|
NM_031935.3(HMCN1):c.5466T>G (p.Val1822=)
|
|
|
NM_031935.3(HMCN1):c.5471-20del
|
|
|
NM_031935.3(HMCN1):c.5481A>G (p.Thr1827=)
|
|
|
NM_031935.3(HMCN1):c.5482A>G (p.Ile1828Val)
|
rs137853915
|
|
NM_031935.3(HMCN1):c.54T>C (p.Ser18=)
|
|
|
NM_031935.3(HMCN1):c.5514G>T (p.Val1838=)
|
|
|
NM_031935.3(HMCN1):c.5532C>T (p.Val1844=)
|
|
|
NM_031935.3(HMCN1):c.5535C>G (p.Ala1845=)
|
|
|
NM_031935.3(HMCN1):c.5619C>T (p.Asn1873=)
|
|
|
NM_031935.3(HMCN1):c.5625+19C>T
|
|
|
NM_031935.3(HMCN1):c.5626-8C>T
|
|
|
NM_031935.3(HMCN1):c.5673A>G (p.Glu1891=)
|
|
|
NM_031935.3(HMCN1):c.570C>T (p.Ala190=)
|
|
|
NM_031935.3(HMCN1):c.5724A>G (p.Gln1908=)
|
|
|
NM_031935.3(HMCN1):c.5749+17_5749+18insGA
|
|
|
NM_031935.3(HMCN1):c.5749+18C>A
|
|
|
NM_031935.3(HMCN1):c.5750-8T>A
|
|
|
NM_031935.3(HMCN1):c.576A>G (p.Thr192=)
|
|
|
NM_031935.3(HMCN1):c.5851+15G>A
|
|
|
NM_031935.3(HMCN1):c.5852-13C>T
|
|
|
NM_031935.3(HMCN1):c.5852-19T>A
|
|
|
NM_031935.3(HMCN1):c.5859A>G (p.Thr1953=)
|
|
|
NM_031935.3(HMCN1):c.58C>T (p.Leu20=)
|
|
|
NM_031935.3(HMCN1):c.5916A>G (p.Arg1972=)
|
|
|
NM_031935.3(HMCN1):c.5952A>C (p.Ser1984=)
|
|
|
NM_031935.3(HMCN1):c.598C>T (p.Leu200=)
|
|
|
NM_031935.3(HMCN1):c.6018G>A (p.Leu2006=)
|
|
|
NM_031935.3(HMCN1):c.6029-15A>G
|
|
|
NM_031935.3(HMCN1):c.6029-3dup
|
|
|
NM_031935.3(HMCN1):c.6177A>G (p.Leu2059=)
|
|
|
NM_031935.3(HMCN1):c.6180+12C>G
|
|
|
NM_031935.3(HMCN1):c.6180+7T>G
|
rs1206270737
|
|
NM_031935.3(HMCN1):c.6181-17G>C
|
|
|
NM_031935.3(HMCN1):c.6181-18C>T
|
|
|
NM_031935.3(HMCN1):c.6189T>C (p.Ser2063=)
|
|
|
NM_031935.3(HMCN1):c.6207A>G (p.Ala2069=)
|
|
|
NM_031935.3(HMCN1):c.621+16G>A
|
|
|
NM_031935.3(HMCN1):c.6219A>G (p.Ala2073=)
|
rs1167255884
|
|
NM_031935.3(HMCN1):c.622-11C>A
|
|
|
NM_031935.3(HMCN1):c.622-18del
|
|
|
NM_031935.3(HMCN1):c.622-6T>C
|
|
|
NM_031935.3(HMCN1):c.6240G>A (p.Arg2080=)
|
|
|
NM_031935.3(HMCN1):c.6304+20_6304+23del
|
rs2102236015
|
|
NM_031935.3(HMCN1):c.6305-6A>C
|
|
|
NM_031935.3(HMCN1):c.6309G>A (p.Pro2103=)
|
rs367790421
|
|
NM_031935.3(HMCN1):c.6345C>A (p.Val2115=)
|
|
|
NM_031935.3(HMCN1):c.636A>G (p.Val212=)
|
|
|
NM_031935.3(HMCN1):c.6384T>C (p.Asp2128=)
|
|
|
NM_031935.3(HMCN1):c.63T>A (p.Ala21=)
|
|
|
NM_031935.3(HMCN1):c.63T>C (p.Ala21=)
|
|
|
NM_031935.3(HMCN1):c.6481-5T>C
|
|
|
NM_031935.3(HMCN1):c.648A>G (p.Val216=)
|
|
|
NM_031935.3(HMCN1):c.6507T>C (p.Thr2169=)
|
|
|
NM_031935.3(HMCN1):c.6510T>C (p.Gly2170=)
|
|
|
NM_031935.3(HMCN1):c.6549T>C (p.Thr2183=)
|
rs1571776522
|
|
NM_031935.3(HMCN1):c.6570C>T (p.Asn2190=)
|
|
|
NM_031935.3(HMCN1):c.6573T>C (p.Ile2191=)
|
|
|
NM_031935.3(HMCN1):c.6577+8T>A
|
|
|
NM_031935.3(HMCN1):c.6609T>C (p.Leu2203=)
|
|
|
NM_031935.3(HMCN1):c.6639C>T (p.Leu2213=)
|
|
|
NM_031935.3(HMCN1):c.6648G>C (p.Leu2216=)
|
|
|
NM_031935.3(HMCN1):c.6700+10C>T
|
|
|
NM_031935.3(HMCN1):c.6700+11A>G
|
|
|
NM_031935.3(HMCN1):c.6700+14C>A
|
|
|
NM_031935.3(HMCN1):c.6701-12A>G
|
|
|
NM_031935.3(HMCN1):c.6714G>T (p.Leu2238=)
|
|
|
NM_031935.3(HMCN1):c.6750G>A (p.Gly2250=)
|
|
|
NM_031935.3(HMCN1):c.6798C>T (p.Leu2266=)
|
|
|
NM_031935.3(HMCN1):c.6804A>G (p.Ser2268=)
|
|
|
NM_031935.3(HMCN1):c.6822T>C (p.Val2274=)
|
|
|
NM_031935.3(HMCN1):c.6828G>A (p.Gly2276=)
|
|
|
NM_031935.3(HMCN1):c.6843A>G (p.Glu2281=)
|
|
|
NM_031935.3(HMCN1):c.6849T>C (p.Asn2283=)
|
|
|
NM_031935.3(HMCN1):c.6863-19A>G
|
|
|
NM_031935.3(HMCN1):c.6891C>T (p.Ser2297=)
|
|
|
NM_031935.3(HMCN1):c.6930C>T (p.Ile2310=)
|
|
|
NM_031935.3(HMCN1):c.6939G>A (p.Glu2313=)
|
|
|
NM_031935.3(HMCN1):c.6951G>A (p.Gln2317=)
|
|
|
NM_031935.3(HMCN1):c.6969A>G (p.Thr2323=)
|
|
|
NM_031935.3(HMCN1):c.6975C>G (p.Thr2325=)
|
|
|
NM_031935.3(HMCN1):c.698T>C (p.Val233Ala)
|
|
|
NM_031935.3(HMCN1):c.7014A>T (p.Gly2338=)
|
|
|
NM_031935.3(HMCN1):c.7065A>G (p.Val2355=)
|
|
|
NM_031935.3(HMCN1):c.7077C>T (p.Gly2359=)
|
|
|
NM_031935.3(HMCN1):c.7083T>C (p.Tyr2361=)
|
|
|
NM_031935.3(HMCN1):c.7144+11A>G
|
|
|
NM_031935.3(HMCN1):c.7144+15G>C
|
|
|
NM_031935.3(HMCN1):c.7144+20A>G
|
|
|
NM_031935.3(HMCN1):c.7145-14A>G
|
|
|
NM_031935.3(HMCN1):c.7145-20T>G
|
|
|
NM_031935.3(HMCN1):c.7216T>C (p.Leu2406=)
|
|
|
NM_031935.3(HMCN1):c.7242C>T (p.Pro2414=)
|
|
|
NM_031935.3(HMCN1):c.7263C>T (p.Phe2421=)
|
|
|
NM_031935.3(HMCN1):c.7304T>A (p.Ile2435Asn)
|
|
|
NM_031935.3(HMCN1):c.7365T>C (p.Tyr2455=)
|
|
|
NM_031935.3(HMCN1):c.7389T>C (p.Ala2463=)
|
|
|
NM_031935.3(HMCN1):c.7407C>T (p.Ile2469=)
|
|
|
NM_031935.3(HMCN1):c.7426+13T>A
|
|
|
NM_031935.3(HMCN1):c.7426+8T>C
|
|
|
NM_031935.3(HMCN1):c.7427-11T>C
|
|
|
NM_031935.3(HMCN1):c.7427-4T>A
|
|
|
NM_031935.3(HMCN1):c.7464T>C (p.Asp2488=)
|
|
|
NM_031935.3(HMCN1):c.7488T>C (p.Ser2496=)
|
|
|
NM_031935.3(HMCN1):c.7513+19G>A
|
|
|
NM_031935.3(HMCN1):c.7513+1_7513+7dup
|
rs758285800
|
|
NM_031935.3(HMCN1):c.7514-6_7514-5dup
|
rs768974572
|
|
NM_031935.3(HMCN1):c.7521A>G (p.Pro2507=)
|
|
|
NM_031935.3(HMCN1):c.7536A>G (p.Thr2512=)
|
|
|
NM_031935.3(HMCN1):c.7560C>T (p.Leu2520=)
|
|
|
NM_031935.3(HMCN1):c.7568A>C (p.Asp2523Ala)
|
|
|
NM_031935.3(HMCN1):c.756T>C (p.Ser252=)
|
|
|
NM_031935.3(HMCN1):c.759G>A (p.Gly253=)
|
|
|
NM_031935.3(HMCN1):c.7617T>C (p.Asn2539=)
|
|
|
NM_031935.3(HMCN1):c.7626G>A (p.Val2542=)
|
|
|
NM_031935.3(HMCN1):c.7626G>T (p.Val2542=)
|
|
|
NM_031935.3(HMCN1):c.7644T>C (p.Tyr2548=)
|
|
|
NM_031935.3(HMCN1):c.7698T>C (p.Asn2566=)
|
|
|
NM_031935.3(HMCN1):c.774T>A (p.Ile258=)
|
|
|
NM_031935.3(HMCN1):c.7797T>G (p.Ala2599=)
|
|
|
NM_031935.3(HMCN1):c.7809T>G (p.Pro2603=)
|
|
|
NM_031935.3(HMCN1):c.783C>T (p.Arg261=)
|
|
|
NM_031935.3(HMCN1):c.7880-19A>G
|
|
|
NM_031935.3(HMCN1):c.7880-4A>C
|
|
|
NM_031935.3(HMCN1):c.7908A>C (p.Ala2636=)
|
|
|
NM_031935.3(HMCN1):c.794-17del
|
|
|
NM_031935.3(HMCN1):c.7947G>A (p.Thr2649=)
|
|
|
NM_031935.3(HMCN1):c.7968A>G (p.Ile2656Met)
|
|
|
NM_031935.3(HMCN1):c.7994-19T>A
|
|
|
NM_031935.3(HMCN1):c.8013A>G (p.Lys2671=)
|
|
|
NM_031935.3(HMCN1):c.8076G>A (p.Leu2692=)
|
|
|
NM_031935.3(HMCN1):c.8112C>G (p.Ala2704=)
|
|
|
NM_031935.3(HMCN1):c.8118C>T (p.Leu2706=)
|
|
|
NM_031935.3(HMCN1):c.813A>G (p.Gly271=)
|
|
|
NM_031935.3(HMCN1):c.8145T>C (p.Leu2715=)
|
|
|
NM_031935.3(HMCN1):c.8145T>G (p.Leu2715=)
|
|
|
NM_031935.3(HMCN1):c.8160T>C (p.His2720=)
|
|
|
NM_031935.3(HMCN1):c.8175G>A (p.Ala2725=)
|
|
|
NM_031935.3(HMCN1):c.8178T>C (p.Asn2726=)
|
|
|
NM_031935.3(HMCN1):c.8208A>G (p.Gln2736=)
|
|
|
NM_031935.3(HMCN1):c.8220C>G (p.Thr2740=)
|
rs562987367
|
|
NM_031935.3(HMCN1):c.8220C>T (p.Thr2740=)
|
rs562987367
|
|
NM_031935.3(HMCN1):c.8266T>C (p.Leu2756=)
|
|
|
NM_031935.3(HMCN1):c.8290+11T>C
|
|
|
NM_031935.3(HMCN1):c.8290+20G>A
|
|
|
NM_031935.3(HMCN1):c.8291-14C>G
|
|
|
NM_031935.3(HMCN1):c.8291-14C>T
|
|
|
NM_031935.3(HMCN1):c.8418T>C (p.Pro2806=)
|
|
|
NM_031935.3(HMCN1):c.8425C>T (p.Leu2809=)
|
|
|
NM_031935.3(HMCN1):c.8430A>G (p.Thr2810=)
|
|
|
NM_031935.3(HMCN1):c.8481G>A (p.Leu2827=)
|
|
|
NM_031935.3(HMCN1):c.8553G>T (p.Val2851=)
|
|
|
NM_031935.3(HMCN1):c.8599+14T>C
|
|
|
NM_031935.3(HMCN1):c.8670A>G (p.Ala2890=)
|
|
|
NM_031935.3(HMCN1):c.8671C>T (p.Leu2891=)
|
|
|
NM_031935.3(HMCN1):c.8691T>C (p.Ser2897=)
|
|
|
NM_031935.3(HMCN1):c.8703A>G (p.Ala2901=)
|
|
|
NM_031935.3(HMCN1):c.8760A>G (p.Lys2920=)
|
rs2102380502
|
|
NM_031935.3(HMCN1):c.8766A>G (p.Leu2922=)
|
|
|
NM_031935.3(HMCN1):c.8784G>A (p.Leu2928=)
|
|
|
NM_031935.3(HMCN1):c.8787+20T>C
|
|
|
NM_031935.3(HMCN1):c.8788-17C>A
|
|
|
NM_031935.3(HMCN1):c.8788-5C>T
|
|
|
NM_031935.3(HMCN1):c.8865T>C (p.Tyr2955=)
|
|
|
NM_031935.3(HMCN1):c.8877T>C (p.Asn2959=)
|
|
|
NM_031935.3(HMCN1):c.8884+16C>T
|
|
|
NM_031935.3(HMCN1):c.8907T>A (p.Pro2969=)
|
|
|
NM_031935.3(HMCN1):c.900+11T>A
|
rs2102455541
|
|
NM_031935.3(HMCN1):c.900+14A>G
|
|
|
NM_031935.3(HMCN1):c.900+5G>A
|
|
|
NM_031935.3(HMCN1):c.901-8A>G
|
|
|
NM_031935.3(HMCN1):c.9030T>C (p.Asn3010=)
|
|
|
NM_031935.3(HMCN1):c.9042G>A (p.Val3014=)
|
|
|
NM_031935.3(HMCN1):c.9046+12C>T
|
|
|
NM_031935.3(HMCN1):c.9047-12A>C
|
|
|
NM_031935.3(HMCN1):c.9047-14C>G
|
|
|
NM_031935.3(HMCN1):c.9047-5T>C
|
|
|
NM_031935.3(HMCN1):c.9048T>C (p.Gly3016=)
|
rs2102400726
|
|
NM_031935.3(HMCN1):c.9060A>G (p.Leu3020=)
|
|
|
NM_031935.3(HMCN1):c.9087T>C (p.Asp3029=)
|
|
|
NM_031935.3(HMCN1):c.9126C>T (p.Gly3042=)
|
|
|
NM_031935.3(HMCN1):c.9160+16C>T
|
|
|
NM_031935.3(HMCN1):c.9161-10C>G
|
|
|
NM_031935.3(HMCN1):c.9161-19T>C
|
|
|
NM_031935.3(HMCN1):c.9161-5C>T
|
|
|
NM_031935.3(HMCN1):c.9186C>T (p.Asp3062=)
|
|
|
NM_031935.3(HMCN1):c.9249G>T (p.Ser3083=)
|
|
|
NM_031935.3(HMCN1):c.9252C>T (p.Asn3084=)
|
|
|
NM_031935.3(HMCN1):c.9292C>A (p.Arg3098=)
|
|
|
NM_031935.3(HMCN1):c.9306G>A (p.Glu3102=)
|
|
|
NM_031935.3(HMCN1):c.9363+10T>G
|
|
|
NM_031935.3(HMCN1):c.9363+16T>C
|
|
|
NM_031935.3(HMCN1):c.9363+17T>G
|
|
|
NM_031935.3(HMCN1):c.9363+20T>C
|
|
|
NM_031935.3(HMCN1):c.9363+7C>A
|
|
|
NM_031935.3(HMCN1):c.9363+7del
|
|
|
NM_031935.3(HMCN1):c.9364-15A>G
|
|
|
NM_031935.3(HMCN1):c.9414G>A (p.Arg3138=)
|
|
|
NM_031935.3(HMCN1):c.9445+11G>A
|
|
|
NM_031935.3(HMCN1):c.9445+16T>C
|
|
|
NM_031935.3(HMCN1):c.9446-10T>C
|
|
|
NM_031935.3(HMCN1):c.9446-11G>A
|
|
|
NM_031935.3(HMCN1):c.9474A>G (p.Arg3158=)
|
rs886045677
|
|
NM_031935.3(HMCN1):c.9475G>A (p.Glu3159Lys)
|
|
|
NM_031935.3(HMCN1):c.948T>C (p.Thr316=)
|
|
|
NM_031935.3(HMCN1):c.9492G>A (p.Thr3164=)
|
|
|
NM_031935.3(HMCN1):c.9492G>T (p.Thr3164=)
|
|
|
NM_031935.3(HMCN1):c.9519T>C (p.Cys3173=)
|
|
|
NM_031935.3(HMCN1):c.9525C>T (p.Ala3175=)
|
|
|
NM_031935.3(HMCN1):c.9528T>C (p.Thr3176=)
|
|
|
NM_031935.3(HMCN1):c.9537A>G (p.Pro3179=)
|
|
|
NM_031935.3(HMCN1):c.9577+10C>T
|
|
|
NM_031935.3(HMCN1):c.9577+9A>G
|
|
|
NM_031935.3(HMCN1):c.9578-6C>A
|
rs2102405312
|
|
NM_031935.3(HMCN1):c.9639G>T (p.Arg3213=)
|
|
|
NM_031935.3(HMCN1):c.9660A>G (p.Gly3220=)
|
|
|
NM_031935.3(HMCN1):c.9672T>C (p.Cys3224=)
|
|
|
NM_031935.3(HMCN1):c.9720A>T (p.Ser3240=)
|
|
|
NM_031935.3(HMCN1):c.9728-4A>G
|
|
|
NM_031935.3(HMCN1):c.9765T>C (p.Asp3255=)
|
|
|
NM_031935.3(HMCN1):c.9774C>T (p.Val3258=)
|
|
|
NM_031935.3(HMCN1):c.978G>A (p.Lys326=)
|
|
|
NM_031935.3(HMCN1):c.9837A>G (p.Gln3279=)
|
|
|
NM_031935.3(HMCN1):c.9887+10A>G
|
|
|
NM_031935.3(HMCN1):c.9887+9A>T
|
|
|
NM_031935.3(HMCN1):c.9888-13A>G
|
rs2102416527
|
|
NM_031935.3(HMCN1):c.9888-15T>C
|
|
|
NM_031935.3(HMCN1):c.9888-4G>A
|
|
|
NM_031935.3(HMCN1):c.9894T>C (p.Ser3298=)
|
|
|