NM_031935.3(HMCN1):c.7345A>G (p.Met2449Val)
|
rs199613884
|
0.00050
|
NM_031935.3(HMCN1):c.13868G>A (p.Arg4623Gln)
|
rs145398864
|
0.00046
|
NM_031935.3(HMCN1):c.5923A>G (p.Ile1975Val)
|
rs145889775
|
0.00038
|
NM_031935.3(HMCN1):c.9929T>C (p.Leu3310Pro)
|
rs148265876
|
0.00036
|
NM_031935.3(HMCN1):c.14927G>A (p.Arg4976Gln)
|
rs201563661
|
0.00033
|
NM_031935.3(HMCN1):c.3740C>T (p.Ala1247Val)
|
rs145595000
|
0.00031
|
NM_031935.3(HMCN1):c.959G>A (p.Arg320Gln)
|
rs140296295
|
0.00030
|
NM_031935.3(HMCN1):c.11561+6G>A
|
rs370284965
|
0.00029
|
NM_031935.3(HMCN1):c.4564C>T (p.Arg1522Cys)
|
rs143641249
|
0.00025
|
NM_031935.3(HMCN1):c.26C>T (p.Thr9Ile)
|
rs150931652
|
0.00023
|
NM_031935.3(HMCN1):c.10633C>T (p.Pro3545Ser)
|
rs142038459
|
0.00022
|
NM_031935.3(HMCN1):c.12510G>C (p.Arg4170Ser)
|
rs147073283
|
0.00021
|
NM_031935.3(HMCN1):c.14095A>G (p.Ile4699Val)
|
rs141213545
|
0.00021
|
NM_031935.3(HMCN1):c.14726G>A (p.Arg4909His)
|
rs148097981
|
0.00021
|
NM_031935.3(HMCN1):c.15419C>T (p.Ala5140Val)
|
rs143555344
|
0.00021
|
NM_031935.3(HMCN1):c.12649A>G (p.Thr4217Ala)
|
rs138440972
|
0.00018
|
NM_031935.3(HMCN1):c.4382A>G (p.Asn1461Ser)
|
rs376910631
|
0.00017
|
NM_031935.3(HMCN1):c.8346G>C (p.Arg2782Ser)
|
rs199920138
|
0.00017
|
NM_031935.3(HMCN1):c.11231T>A (p.Ile3744Lys)
|
rs149594098
|
0.00016
|
NM_031935.3(HMCN1):c.1886T>C (p.Val629Ala)
|
rs769474927
|
0.00016
|
NM_031935.3(HMCN1):c.7677G>C (p.Lys2559Asn)
|
rs139899015
|
0.00016
|
NM_031935.3(HMCN1):c.12746C>T (p.Thr4249Ile)
|
rs200642597
|
0.00015
|
NM_031935.3(HMCN1):c.3403A>G (p.Met1135Val)
|
rs781513060
|
0.00015
|
NM_031935.3(HMCN1):c.5137G>A (p.Val1713Met)
|
rs140990615
|
0.00015
|
NM_031935.3(HMCN1):c.109G>A (p.Glu37Lys)
|
rs199574143
|
0.00014
|
NM_031935.3(HMCN1):c.11423C>T (p.Pro3808Leu)
|
rs199984579
|
0.00014
|
NM_031935.3(HMCN1):c.14555C>G (p.Pro4852Arg)
|
rs374597394
|
0.00014
|
NM_031935.3(HMCN1):c.15109T>C (p.Tyr5037His)
|
rs41317505
|
0.00014
|
NM_031935.3(HMCN1):c.8348A>G (p.Asn2783Ser)
|
rs139211435
|
0.00014
|
NM_031935.3(HMCN1):c.16657C>T (p.Arg5553Trp)
|
rs200641304
|
0.00011
|
NM_031935.3(HMCN1):c.4373A>G (p.Asn1458Ser)
|
rs757430423
|
0.00011
|
NM_031935.3(HMCN1):c.7859G>A (p.Arg2620Gln)
|
rs150883776
|
0.00011
|
NM_031935.3(HMCN1):c.974G>A (p.Arg325Gln)
|
rs202206115
|
0.00011
|
NM_031935.3(HMCN1):c.11808A>T (p.Arg3936Ser)
|
rs144330600
|
0.00010
|
NM_031935.3(HMCN1):c.15967C>A (p.Pro5323Thr)
|
rs540719952
|
0.00010
|
NM_031935.3(HMCN1):c.16811G>T (p.Arg5604Leu)
|
rs372803002
|
0.00010
|
NM_031935.3(HMCN1):c.7492A>T (p.Thr2498Ser)
|
rs376556463
|
0.00010
|
NM_031935.3(HMCN1):c.14639T>G (p.Ile4880Ser)
|
rs77460954
|
0.00009
|
NM_031935.3(HMCN1):c.14926C>T (p.Arg4976Trp)
|
rs760875305
|
0.00009
|
NM_031935.3(HMCN1):c.1751A>G (p.Asn584Ser)
|
rs143393655
|
0.00009
|
NM_031935.3(HMCN1):c.1939G>A (p.Val647Ile)
|
rs146964438
|
0.00009
|
NM_031935.3(HMCN1):c.3354G>T (p.Gln1118His)
|
rs141081235
|
0.00009
|
NM_031935.3(HMCN1):c.4546C>T (p.Arg1516Trp)
|
rs764000303
|
0.00009
|
NM_031935.3(HMCN1):c.4850C>T (p.Thr1617Met)
|
rs757566490
|
0.00009
|
NM_031935.3(HMCN1):c.6239G>C (p.Arg2080Thr)
|
rs199945360
|
0.00009
|
NM_031935.3(HMCN1):c.6296G>A (p.Arg2099Gln)
|
rs116409560
|
0.00009
|
NM_031935.3(HMCN1):c.7513+4T>C
|
rs369311506
|
0.00009
|
NM_031935.3(HMCN1):c.900+4C>T
|
rs764319560
|
0.00009
|
NM_031935.3(HMCN1):c.11915C>T (p.Ala3972Val)
|
rs752692827
|
0.00008
|
NM_031935.3(HMCN1):c.16741G>A (p.Ala5581Thr)
|
rs754660196
|
0.00008
|
NM_031935.3(HMCN1):c.7153A>G (p.Ser2385Gly)
|
rs138727762
|
0.00008
|
NM_031935.3(HMCN1):c.11722G>C (p.Val3908Leu)
|
rs146636123
|
0.00007
|
NM_031935.3(HMCN1):c.13875T>G (p.Cys4625Trp)
|
rs371095992
|
0.00007
|
NM_031935.3(HMCN1):c.13966A>G (p.Ser4656Gly)
|
rs776783939
|
0.00007
|
NM_031935.3(HMCN1):c.15127G>A (p.Val5043Ile)
|
rs769706639
|
0.00007
|
NM_031935.3(HMCN1):c.3422G>A (p.Arg1141His)
|
rs370518238
|
0.00007
|
NM_031935.3(HMCN1):c.4178T>C (p.Met1393Thr)
|
rs779269443
|
0.00007
|
NM_031935.3(HMCN1):c.5572A>T (p.Ile1858Phe)
|
rs200642806
|
0.00007
|
NM_031935.3(HMCN1):c.6511C>T (p.Arg2171Cys)
|
rs41317477
|
0.00007
|
NM_031935.3(HMCN1):c.7714A>G (p.Thr2572Ala)
|
rs201878929
|
0.00007
|
NM_031935.3(HMCN1):c.12662A>G (p.Tyr4221Cys)
|
rs377433759
|
0.00006
|
NM_031935.3(HMCN1):c.13442C>A (p.Ser4481Tyr)
|
rs747405345
|
0.00006
|
NM_031935.3(HMCN1):c.13909A>G (p.Ile4637Val)
|
rs752516803
|
0.00006
|
NM_031935.3(HMCN1):c.15077G>A (p.Arg5026Gln)
|
rs146392053
|
0.00006
|
NM_031935.3(HMCN1):c.1655C>A (p.Thr552Asn)
|
rs200601125
|
0.00006
|
NM_031935.3(HMCN1):c.4385A>T (p.Glu1462Val)
|
rs371177035
|
0.00006
|
NM_031935.3(HMCN1):c.4405C>T (p.Arg1469Cys)
|
rs140363573
|
0.00006
|
NM_031935.3(HMCN1):c.4940C>T (p.Thr1647Met)
|
rs775412545
|
0.00006
|
NM_031935.3(HMCN1):c.6308C>T (p.Pro2103Leu)
|
rs768441829
|
0.00006
|
NM_031935.3(HMCN1):c.7327C>T (p.Arg2443Trp)
|
rs376132541
|
0.00006
|
NM_031935.3(HMCN1):c.7598G>A (p.Arg2533His)
|
rs199987140
|
0.00006
|
NM_031935.3(HMCN1):c.12220A>G (p.Asn4074Asp)
|
rs200395622
|
0.00005
|
NM_031935.3(HMCN1):c.13888G>A (p.Val4630Met)
|
rs146247104
|
0.00005
|
NM_031935.3(HMCN1):c.15467A>G (p.His5156Arg)
|
rs770537331
|
0.00005
|
NM_031935.3(HMCN1):c.16299T>G (p.Ile5433Met)
|
rs553018813
|
0.00005
|
NM_031935.3(HMCN1):c.16894G>A (p.Ala5632Thr)
|
rs372434876
|
0.00005
|
NM_031935.3(HMCN1):c.1973A>G (p.Tyr658Cys)
|
rs370251638
|
0.00005
|
NM_031935.3(HMCN1):c.4360A>G (p.Ile1454Val)
|
rs142035526
|
0.00005
|
NM_031935.3(HMCN1):c.4468G>A (p.Asp1490Asn)
|
rs781177769
|
0.00005
|
NM_031935.3(HMCN1):c.6641T>C (p.Ile2214Thr)
|
rs907235295
|
0.00005
|
NM_031935.3(HMCN1):c.6699A>G (p.Lys2233=)
|
rs200609012
|
0.00005
|
NM_031935.3(HMCN1):c.6744A>T (p.Leu2248Phe)
|
rs765779034
|
0.00005
|
NM_031935.3(HMCN1):c.6974C>T (p.Thr2325Ile)
|
rs147722917
|
0.00005
|
NM_031935.3(HMCN1):c.10033A>G (p.Asn3345Asp)
|
rs201026760
|
0.00004
|
NM_031935.3(HMCN1):c.10280A>G (p.Asn3427Ser)
|
rs903500513
|
0.00004
|
NM_031935.3(HMCN1):c.10380T>G (p.Asp3460Glu)
|
rs141065715
|
0.00004
|
NM_031935.3(HMCN1):c.12043C>T (p.Pro4015Ser)
|
rs367750334
|
0.00004
|
NM_031935.3(HMCN1):c.12149G>A (p.Arg4050Gln)
|
rs565996021
|
0.00004
|
NM_031935.3(HMCN1):c.12355A>G (p.Ile4119Val)
|
rs146177894
|
0.00004
|
NM_031935.3(HMCN1):c.14185G>A (p.Asp4729Asn)
|
rs751950564
|
0.00004
|
NM_031935.3(HMCN1):c.14335C>T (p.Arg4779Trp)
|
rs144825762
|
0.00004
|
NM_031935.3(HMCN1):c.15182C>T (p.Ala5061Val)
|
rs754953588
|
0.00004
|
NM_031935.3(HMCN1):c.1525C>T (p.Arg509Trp)
|
rs531770127
|
0.00004
|
NM_031935.3(HMCN1):c.1755T>A (p.Asp585Glu)
|
rs371997839
|
0.00004
|
NM_031935.3(HMCN1):c.1900T>C (p.Ser634Pro)
|
rs779907065
|
0.00004
|
NM_031935.3(HMCN1):c.2341G>A (p.Ala781Thr)
|
rs373420508
|
0.00004
|
NM_031935.3(HMCN1):c.3245C>T (p.Ser1082Phe)
|
rs369263478
|
0.00004
|
NM_031935.3(HMCN1):c.4156G>A (p.Gly1386Ser)
|
rs757548486
|
0.00004
|
NM_031935.3(HMCN1):c.4223A>C (p.Gln1408Pro)
|
rs201953947
|
0.00004
|
NM_031935.3(HMCN1):c.4772G>A (p.Ser1591Asn)
|
rs140480677
|
0.00004
|
NM_031935.3(HMCN1):c.5120G>A (p.Arg1707Gln)
|
rs367984117
|
0.00004
|
NM_031935.3(HMCN1):c.6181-3T>C
|
rs971328726
|
0.00004
|
NM_031935.3(HMCN1):c.6197G>A (p.Arg2066Gln)
|
rs555321850
|
0.00004
|
NM_031935.3(HMCN1):c.7160T>C (p.Ile2387Thr)
|
rs536019281
|
0.00004
|
NM_031935.3(HMCN1):c.7676A>G (p.Lys2559Arg)
|
rs1009060988
|
0.00004
|
NM_031935.3(HMCN1):c.769A>G (p.Met257Val)
|
rs140971270
|
0.00004
|
NM_031935.3(HMCN1):c.8341G>A (p.Gly2781Ser)
|
rs374112138
|
0.00004
|
NM_031935.3(HMCN1):c.8776C>T (p.Arg2926Ter)
|
rs142475663
|
0.00004
|
NM_031935.3(HMCN1):c.9637C>T (p.Arg3213Trp)
|
rs1404028877
|
0.00004
|
NM_031935.3(HMCN1):c.9841C>T (p.Leu3281Phe)
|
rs780010955
|
0.00004
|
NM_031935.3(HMCN1):c.9887+4T>G
|
rs746668370
|
0.00004
|
NM_031935.3(HMCN1):c.9941C>T (p.Thr3314Met)
|
rs367681878
|
0.00004
|
NM_031935.3(HMCN1):c.9973G>A (p.Ala3325Thr)
|
rs543118353
|
0.00004
|
NM_031935.3(HMCN1):c.10592G>A (p.Gly3531Glu)
|
rs752255369
|
0.00003
|
NM_031935.3(HMCN1):c.11191G>A (p.Val3731Ile)
|
rs773110395
|
0.00003
|
NM_031935.3(HMCN1):c.11277A>G (p.Arg3759=)
|
rs369293880
|
0.00003
|
NM_031935.3(HMCN1):c.12320C>T (p.Pro4107Leu)
|
rs766042341
|
0.00003
|
NM_031935.3(HMCN1):c.13190G>A (p.Arg4397Gln)
|
rs368815116
|
0.00003
|
NM_031935.3(HMCN1):c.13214C>T (p.Ala4405Val)
|
rs1306049718
|
0.00003
|
NM_031935.3(HMCN1):c.1355C>T (p.Ser452Phe)
|
rs373157669
|
0.00003
|
NM_031935.3(HMCN1):c.15283G>A (p.Gly5095Arg)
|
rs373876634
|
0.00003
|
NM_031935.3(HMCN1):c.15746G>A (p.Arg5249His)
|
rs766387783
|
0.00003
|
NM_031935.3(HMCN1):c.2266C>T (p.Leu756Phe)
|
rs754608294
|
0.00003
|
NM_031935.3(HMCN1):c.2819G>A (p.Arg940His)
|
rs112809015
|
0.00003
|
NM_031935.3(HMCN1):c.3278C>A (p.Ala1093Glu)
|
rs373402377
|
0.00003
|
NM_031935.3(HMCN1):c.5530G>A (p.Val1844Ile)
|
rs748993057
|
0.00003
|
NM_031935.3(HMCN1):c.6358G>A (p.Ala2120Thr)
|
rs149209524
|
0.00003
|
NM_031935.3(HMCN1):c.6676C>A (p.Pro2226Thr)
|
rs201966093
|
0.00003
|
NM_031935.3(HMCN1):c.11378G>A (p.Arg3793His)
|
rs768205453
|
0.00002
|
NM_031935.3(HMCN1):c.11405-3T>C
|
rs771393516
|
0.00002
|
NM_031935.3(HMCN1):c.12464G>C (p.Gly4155Ala)
|
rs537694143
|
0.00002
|
NM_031935.3(HMCN1):c.14315C>T (p.Thr4772Met)
|
rs762054878
|
0.00002
|
NM_031935.3(HMCN1):c.14465G>A (p.Ser4822Asn)
|
rs770204982
|
0.00002
|
NM_031935.3(HMCN1):c.15167T>C (p.Val5056Ala)
|
rs199927269
|
0.00002
|
NM_031935.3(HMCN1):c.15273G>C (p.Gln5091His)
|
rs369122627
|
0.00002
|
NM_031935.3(HMCN1):c.15366C>A (p.His5122Gln)
|
rs370909774
|
0.00002
|
NM_031935.3(HMCN1):c.15505G>C (p.Gly5169Arg)
|
rs750614060
|
0.00002
|
NM_031935.3(HMCN1):c.15575-1G>A
|
rs200351804
|
0.00002
|
NM_031935.3(HMCN1):c.15743C>T (p.Thr5248Ile)
|
rs199563247
|
0.00002
|
NM_031935.3(HMCN1):c.15914G>A (p.Arg5305Gln)
|
rs566532561
|
0.00002
|
NM_031935.3(HMCN1):c.1837A>G (p.Lys613Glu)
|
rs376173618
|
0.00002
|
NM_031935.3(HMCN1):c.2162T>C (p.Met721Thr)
|
rs144270518
|
0.00002
|
NM_031935.3(HMCN1):c.2436A>C (p.Leu812Phe)
|
rs367914815
|
0.00002
|
NM_031935.3(HMCN1):c.2768G>A (p.Arg923Gln)
|
rs144772706
|
0.00002
|
NM_031935.3(HMCN1):c.3441G>T (p.Met1147Ile)
|
rs201732691
|
0.00002
|
NM_031935.3(HMCN1):c.3731C>T (p.Thr1244Ile)
|
rs764649227
|
0.00002
|
NM_031935.3(HMCN1):c.3811T>C (p.Tyr1271His)
|
rs188408556
|
0.00002
|
NM_031935.3(HMCN1):c.3992A>G (p.Tyr1331Cys)
|
rs376178458
|
0.00002
|
NM_031935.3(HMCN1):c.5741A>G (p.His1914Arg)
|
rs563890233
|
0.00002
|
NM_031935.3(HMCN1):c.5891C>T (p.Ser1964Phe)
|
rs768770768
|
0.00002
|
NM_031935.3(HMCN1):c.6480+4A>T
|
rs376146048
|
0.00002
|
NM_031935.3(HMCN1):c.7078C>T (p.Arg2360Cys)
|
rs779454634
|
0.00002
|
NM_031935.3(HMCN1):c.7313-5T>G
|
rs762447090
|
0.00002
|
NM_031935.3(HMCN1):c.824A>C (p.His275Pro)
|
rs368798833
|
0.00002
|
NM_031935.3(HMCN1):c.8489G>A (p.Gly2830Glu)
|
rs749154171
|
0.00002
|
NM_031935.3(HMCN1):c.8650G>A (p.Val2884Met)
|
rs919412657
|
0.00002
|
NM_031935.3(HMCN1):c.8764C>A (p.Leu2922Ile)
|
rs200871004
|
0.00002
|
NM_031935.3(HMCN1):c.8777G>A (p.Arg2926Gln)
|
rs377760099
|
0.00002
|
NM_031935.3(HMCN1):c.8813T>C (p.Ile2938Thr)
|
rs748510163
|
0.00002
|
NM_031935.3(HMCN1):c.8965T>C (p.Ser2989Pro)
|
rs764586326
|
0.00002
|
NM_031935.3(HMCN1):c.10073C>T (p.Thr3358Ile)
|
rs201310252
|
0.00001
|
NM_031935.3(HMCN1):c.10958T>C (p.Ile3653Thr)
|
rs746480984
|
0.00001
|
NM_031935.3(HMCN1):c.10997C>G (p.Pro3666Arg)
|
rs757296431
|
0.00001
|
NM_031935.3(HMCN1):c.11006G>A (p.Arg3669Gln)
|
rs745313929
|
0.00001
|
NM_031935.3(HMCN1):c.1115T>C (p.Leu372Pro)
|
rs1667101291
|
0.00001
|
NM_031935.3(HMCN1):c.11317G>A (p.Ala3773Thr)
|
rs1268584037
|
0.00001
|
NM_031935.3(HMCN1):c.11377C>T (p.Arg3793Cys)
|
rs147547755
|
0.00001
|
NM_031935.3(HMCN1):c.1165T>C (p.Trp389Arg)
|
rs777770411
|
0.00001
|
NM_031935.3(HMCN1):c.11689C>T (p.Pro3897Ser)
|
rs979127566
|
0.00001
|
NM_031935.3(HMCN1):c.11933G>A (p.Arg3978Gln)
|
rs756043609
|
0.00001
|
NM_031935.3(HMCN1):c.11935C>T (p.His3979Tyr)
|
rs973079674
|
0.00001
|
NM_031935.3(HMCN1):c.1207C>G (p.Leu403Val)
|
rs781359511
|
0.00001
|
NM_031935.3(HMCN1):c.12148C>T (p.Arg4050Ter)
|
rs767655388
|
0.00001
|
NM_031935.3(HMCN1):c.12290C>T (p.Thr4097Met)
|
rs370916387
|
0.00001
|
NM_031935.3(HMCN1):c.12667G>A (p.Glu4223Lys)
|
rs1400175925
|
0.00001
|
NM_031935.3(HMCN1):c.12986C>T (p.Thr4329Ile)
|
rs200984902
|
0.00001
|
NM_031935.3(HMCN1):c.13001T>C (p.Val4334Ala)
|
rs750135200
|
0.00001
|
NM_031935.3(HMCN1):c.13162G>A (p.Val4388Met)
|
rs563362752
|
0.00001
|
NM_031935.3(HMCN1):c.13240G>A (p.Ala4414Thr)
|
rs969015389
|
0.00001
|
NM_031935.3(HMCN1):c.13333G>A (p.Glu4445Lys)
|
rs1192219867
|
0.00001
|
NM_031935.3(HMCN1):c.13348G>A (p.Val4450Ile)
|
rs1649627673
|
0.00001
|
NM_031935.3(HMCN1):c.13660C>T (p.Arg4554Cys)
|
rs753805678
|
0.00001
|
NM_031935.3(HMCN1):c.13874G>A (p.Cys4625Tyr)
|
rs1649718920
|
0.00001
|
NM_031935.3(HMCN1):c.14150G>A (p.Gly4717Glu)
|
rs1207896972
|
0.00001
|
NM_031935.3(HMCN1):c.14229T>A (p.Asp4743Glu)
|
rs746810106
|
0.00001
|
NM_031935.3(HMCN1):c.14591A>G (p.Asn4864Ser)
|
rs1158025720
|
0.00001
|
NM_031935.3(HMCN1):c.14635G>A (p.Val4879Ile)
|
rs747136780
|
0.00001
|
NM_031935.3(HMCN1):c.14718A>C (p.Arg4906Ser)
|
rs1365182044
|
0.00001
|
NM_031935.3(HMCN1):c.15076C>T (p.Arg5026Trp)
|
rs536701183
|
0.00001
|
NM_031935.3(HMCN1):c.154A>G (p.Met52Val)
|
rs778944028
|
0.00001
|
NM_031935.3(HMCN1):c.15685A>G (p.Met5229Val)
|
rs748823261
|
0.00001
|
NM_031935.3(HMCN1):c.15755A>G (p.Tyr5252Cys)
|
rs753251897
|
0.00001
|
NM_031935.3(HMCN1):c.16048G>A (p.Asp5350Asn)
|
rs770590855
|
0.00001
|
NM_031935.3(HMCN1):c.1624C>G (p.Leu542Val)
|
rs982976924
|
0.00001
|
NM_031935.3(HMCN1):c.16754A>C (p.Glu5585Ala)
|
rs771757920
|
0.00001
|
NM_031935.3(HMCN1):c.16793G>A (p.Arg5598Gln)
|
rs748032823
|
0.00001
|
NM_031935.3(HMCN1):c.1683A>C (p.Arg561Ser)
|
rs1278087925
|
0.00001
|
NM_031935.3(HMCN1):c.2096T>C (p.Ile699Thr)
|
rs746494097
|
0.00001
|
NM_031935.3(HMCN1):c.2261T>G (p.Leu754Trp)
|
rs1046849931
|
0.00001
|
NM_031935.3(HMCN1):c.2276T>G (p.Ile759Ser)
|
rs1005373074
|
0.00001
|
NM_031935.3(HMCN1):c.2575G>T (p.Ala859Ser)
|
rs1274918563
|
0.00001
|
NM_031935.3(HMCN1):c.2656G>A (p.Gly886Arg)
|
rs368702685
|
0.00001
|
NM_031935.3(HMCN1):c.2734A>G (p.Thr912Ala)
|
rs763378460
|
0.00001
|
NM_031935.3(HMCN1):c.302A>G (p.Lys101Arg)
|
rs774524448
|
0.00001
|
NM_031935.3(HMCN1):c.3307G>A (p.Val1103Met)
|
rs762631011
|
0.00001
|
NM_031935.3(HMCN1):c.3437G>A (p.Gly1146Glu)
|
rs780422973
|
0.00001
|
NM_031935.3(HMCN1):c.4200+6T>C
|
rs759273685
|
0.00001
|
NM_031935.3(HMCN1):c.4492G>A (p.Asp1498Asn)
|
rs762354666
|
0.00001
|
NM_031935.3(HMCN1):c.4543G>T (p.Ala1515Ser)
|
rs1332606772
|
0.00001
|
NM_031935.3(HMCN1):c.4565G>A (p.Arg1522His)
|
rs886045671
|
0.00001
|
NM_031935.3(HMCN1):c.4728G>A (p.Met1576Ile)
|
rs766255925
|
0.00001
|
NM_031935.3(HMCN1):c.4865A>G (p.Asn1622Ser)
|
rs755200248
|
0.00001
|
NM_031935.3(HMCN1):c.5241G>T (p.Met1747Ile)
|
rs766434071
|
0.00001
|
NM_031935.3(HMCN1):c.5362C>T (p.Arg1788Cys)
|
rs773084610
|
0.00001
|
NM_031935.3(HMCN1):c.5885C>T (p.Ser1962Leu)
|
rs367776519
|
0.00001
|
NM_031935.3(HMCN1):c.6295C>T (p.Arg2099Ter)
|
rs483352758
|
0.00001
|
NM_031935.3(HMCN1):c.6421G>A (p.Gly2141Ser)
|
rs964866048
|
0.00001
|
NM_031935.3(HMCN1):c.6863-3C>T
|
rs770154240
|
0.00001
|
NM_031935.3(HMCN1):c.6941G>A (p.Cys2314Tyr)
|
rs1657250072
|
0.00001
|
NM_031935.3(HMCN1):c.7156A>G (p.Ile2386Val)
|
rs1167111929
|
0.00001
|
NM_031935.3(HMCN1):c.7163G>A (p.Gly2388Glu)
|
rs550906893
|
0.00001
|
NM_031935.3(HMCN1):c.7445G>A (p.Gly2482Asp)
|
rs372591014
|
0.00001
|
NM_031935.3(HMCN1):c.7477G>C (p.Glu2493Gln)
|
rs771719125
|
0.00001
|
NM_031935.3(HMCN1):c.7720G>A (p.Ala2574Thr)
|
rs201302454
|
0.00001
|
NM_031935.3(HMCN1):c.7957G>A (p.Gly2653Arg)
|
rs1172387552
|
0.00001
|
NM_031935.3(HMCN1):c.7978G>A (p.Glu2660Lys)
|
rs985818530
|
0.00001
|
NM_031935.3(HMCN1):c.8150C>T (p.Ser2717Phe)
|
rs201586866
|
0.00001
|
NM_031935.3(HMCN1):c.856G>A (p.Val286Ile)
|
rs376875658
|
0.00001
|
NM_031935.3(HMCN1):c.8631T>A (p.Asp2877Glu)
|
rs913131873
|
0.00001
|
NM_031935.3(HMCN1):c.8929G>A (p.Val2977Met)
|
rs556443296
|
0.00001
|
NM_031935.3(HMCN1):c.8975C>T (p.Pro2992Leu)
|
rs574155244
|
0.00001
|
NM_031935.3(HMCN1):c.9116A>G (p.Asn3039Ser)
|
rs1030947907
|
0.00001
|
NM_031935.3(HMCN1):c.9127G>A (p.Glu3043Lys)
|
rs747230633
|
0.00001
|
NM_031935.3(HMCN1):c.9157T>C (p.Tyr3053His)
|
rs375407833
|
0.00001
|
NM_031935.3(HMCN1):c.9170G>A (p.Ser3057Asn)
|
rs754932740
|
0.00001
|
NM_031935.3(HMCN1):c.9182A>G (p.His3061Arg)
|
rs748058327
|
0.00001
|
NM_031935.3(HMCN1):c.9406G>A (p.Ala3136Thr)
|
rs886045676
|
0.00001
|
NM_031935.3(HMCN1):c.9452C>A (p.Pro3151His)
|
rs779141963
|
0.00001
|
NM_031935.3(HMCN1):c.9899A>G (p.Asn3300Ser)
|
rs146969586
|
0.00001
|
GRCh37/hg19 1q31.1(chr1:185892764-186021430)x1
|
|
|
NC_000001.10:g.(?_186022937)_(186023138_?)del
|
|
|
NC_000001.10:g.(?_186105780)_(186136094_?)dup
|
|
|
NC_000001.10:g.(?_186147528)_(186159010_?)del
|
|
|
NM_031935.3(HMCN1):c.10006G>A (p.Val3336Ile)
|
|
|
NM_031935.3(HMCN1):c.10010A>G (p.Tyr3337Cys)
|
|
|
NM_031935.3(HMCN1):c.1004T>A (p.Val335Asp)
|
|
|
NM_031935.3(HMCN1):c.10085T>C (p.Ile3362Thr)
|
|
|
NM_031935.3(HMCN1):c.10103G>C (p.Gly3368Ala)
|
|
|
NM_031935.3(HMCN1):c.10106C>T (p.Thr3369Met)
|
|
|
NM_031935.3(HMCN1):c.10150C>A (p.Pro3384Thr)
|
|
|
NM_031935.3(HMCN1):c.10153C>G (p.Leu3385Val)
|
|
|
NM_031935.3(HMCN1):c.10165A>G (p.Ile3389Val)
|
|
|
NM_031935.3(HMCN1):c.10168C>T (p.Arg3390Trp)
|
|
|
NM_031935.3(HMCN1):c.10169G>A (p.Arg3390Gln)
|
rs369620574
|
|
NM_031935.3(HMCN1):c.10184G>C (p.Gly3395Ala)
|
|
|
NM_031935.3(HMCN1):c.10187A>C (p.Gln3396Pro)
|
rs2102418182
|
|
NM_031935.3(HMCN1):c.10201G>C (p.Val3401Leu)
|
|
|
NM_031935.3(HMCN1):c.10213G>T (p.Val3405Leu)
|
|
|
NM_031935.3(HMCN1):c.10225G>A (p.Ala3409Thr)
|
|
|
NM_031935.3(HMCN1):c.10276T>C (p.Tyr3426His)
|
|
|
NM_031935.3(HMCN1):c.10279A>G (p.Asn3427Asp)
|
|
|
NM_031935.3(HMCN1):c.10288G>C (p.Val3430Leu)
|
|
|
NM_031935.3(HMCN1):c.10342C>T (p.Leu3448Phe)
|
|
|
NM_031935.3(HMCN1):c.10348G>A (p.Gly3450Ser)
|
|
|
NM_031935.3(HMCN1):c.10349G>A (p.Gly3450Asp)
|
|
|
NM_031935.3(HMCN1):c.10358C>T (p.Thr3453Ile)
|
|
|
NM_031935.3(HMCN1):c.10361C>T (p.Ser3454Phe)
|
|
|
NM_031935.3(HMCN1):c.10363A>C (p.Met3455Leu)
|
|
|
NM_031935.3(HMCN1):c.10363A>G (p.Met3455Val)
|
rs766461506
|
|
NM_031935.3(HMCN1):c.10376C>G (p.Thr3459Ser)
|
|
|
NM_031935.3(HMCN1):c.1037T>C (p.Val346Ala)
|
|
|
NM_031935.3(HMCN1):c.10399A>T (p.Met3467Leu)
|
|
|
NM_031935.3(HMCN1):c.10403C>G (p.Ala3468Gly)
|
rs201041141
|
|
NM_031935.3(HMCN1):c.10442A>G (p.His3481Arg)
|
|
|
NM_031935.3(HMCN1):c.10453A>G (p.Ser3485Gly)
|
|
|
NM_031935.3(HMCN1):c.10463G>T (p.Gly3488Val)
|
|
|
NM_031935.3(HMCN1):c.10464A>T (p.Gly3488=)
|
rs2102422991
|
|
NM_031935.3(HMCN1):c.10467G>T (p.Met3489Ile)
|
|
|
NM_031935.3(HMCN1):c.10477C>G (p.Leu3493Val)
|
|
|
NM_031935.3(HMCN1):c.10502C>T (p.Ser3501Leu)
|
|
|
NM_031935.3(HMCN1):c.10508A>G (p.Lys3503Arg)
|
|
|
NM_031935.3(HMCN1):c.10552C>A (p.His3518Asn)
|
|
|
NM_031935.3(HMCN1):c.10570C>A (p.Leu3524Ile)
|
|
|
NM_031935.3(HMCN1):c.10573G>A (p.Glu3525Lys)
|
|
|
NM_031935.3(HMCN1):c.10634del (p.Pro3545fs)
|
rs2102444389
|
|
NM_031935.3(HMCN1):c.10654G>A (p.Ala3552Thr)
|
|
|
NM_031935.3(HMCN1):c.10665C>T (p.Ile3555=)
|
|
|
NM_031935.3(HMCN1):c.10682C>T (p.Thr3561Ile)
|
|
|
NM_031935.3(HMCN1):c.10687A>G (p.Met3563Val)
|
|
|
NM_031935.3(HMCN1):c.10700G>A (p.Arg3567Gln)
|
|
|
NM_031935.3(HMCN1):c.10715C>T (p.Thr3572Met)
|
|
|
NM_031935.3(HMCN1):c.10718A>T (p.Asp3573Val)
|
|
|
NM_031935.3(HMCN1):c.10723G>A (p.Val3575Met)
|
|
|
NM_031935.3(HMCN1):c.10729A>T (p.Thr3577Ser)
|
|
|
NM_031935.3(HMCN1):c.10739G>A (p.Gly3580Glu)
|
|
|
NM_031935.3(HMCN1):c.10742G>A (p.Gly3581Glu)
|
|
|
NM_031935.3(HMCN1):c.10746G>C (p.Glu3582Asp)
|
|
|
NM_031935.3(HMCN1):c.10747G>A (p.Val3583Ile)
|
|
|
NM_031935.3(HMCN1):c.10754G>A (p.Arg3585Gln)
|
|
|
NM_031935.3(HMCN1):c.10754G>C (p.Arg3585Pro)
|
|
|
NM_031935.3(HMCN1):c.10757T>G (p.Ile3586Ser)
|
|
|
NM_031935.3(HMCN1):c.10816G>A (p.Gly3606Arg)
|
|
|
NM_031935.3(HMCN1):c.1081CTT[1] (p.Leu362del)
|
|
|
NM_031935.3(HMCN1):c.10830G>C (p.Lys3610Asn)
|
|
|
NM_031935.3(HMCN1):c.10842G>A (p.Val3614=)
|
|
|
NM_031935.3(HMCN1):c.10844G>A (p.Arg3615Lys)
|
|
|
NM_031935.3(HMCN1):c.10845A>G (p.Arg3615=)
|
|
|
NM_031935.3(HMCN1):c.10866T>G (p.Ile3622Met)
|
|
|
NM_031935.3(HMCN1):c.10868C>G (p.Ala3623Gly)
|
|
|
NM_031935.3(HMCN1):c.10874C>G (p.Thr3625Ser)
|
|
|
NM_031935.3(HMCN1):c.10885C>T (p.Arg3629Trp)
|
|
|
NM_031935.3(HMCN1):c.10886G>A (p.Arg3629Gln)
|
|
|
NM_031935.3(HMCN1):c.10897G>A (p.Val3633Met)
|
|
|
NM_031935.3(HMCN1):c.10904G>A (p.Arg3635Gln)
|
|
|
NM_031935.3(HMCN1):c.10948C>T (p.Pro3650Ser)
|
|
|
NM_031935.3(HMCN1):c.10949C>T (p.Pro3650Leu)
|
|
|
NM_031935.3(HMCN1):c.10975G>A (p.Gly3659Arg)
|
|
|
NM_031935.3(HMCN1):c.10976G>C (p.Gly3659Ala)
|
|
|
NM_031935.3(HMCN1):c.10981C>T (p.Arg3661Trp)
|
|
|
NM_031935.3(HMCN1):c.10982G>A (p.Arg3661Gln)
|
|
|
NM_031935.3(HMCN1):c.10989+3A>C
|
|
|
NM_031935.3(HMCN1):c.10989+4A>C
|
|
|
NM_031935.3(HMCN1):c.10996C>T (p.Pro3666Ser)
|
|
|
NM_031935.3(HMCN1):c.11000G>A (p.Arg3667Gln)
|
|
|
NM_031935.3(HMCN1):c.11006G>T (p.Arg3669Leu)
|
|
|
NM_031935.3(HMCN1):c.11012T>C (p.Leu3671Pro)
|
|
|
NM_031935.3(HMCN1):c.11054G>C (p.Gly3685Ala)
|
rs145492995
|
|
NM_031935.3(HMCN1):c.11059A>G (p.Thr3687Ala)
|
|
|
NM_031935.3(HMCN1):c.11060C>G (p.Thr3687Arg)
|
|
|
NM_031935.3(HMCN1):c.1106G>C (p.Gly369Ala)
|
|
|
NM_031935.3(HMCN1):c.11080G>T (p.Ala3694Ser)
|
|
|
NM_031935.3(HMCN1):c.11089A>G (p.Ile3697Val)
|
|
|
NM_031935.3(HMCN1):c.11125G>A (p.Val3709Ile)
|
rs2102469102
|
|
NM_031935.3(HMCN1):c.11131+10G>T
|
|
|
NM_031935.3(HMCN1):c.11153G>T (p.Gly3718Val)
|
|
|
NM_031935.3(HMCN1):c.11158C>A (p.Gln3720Lys)
|
|
|
NM_031935.3(HMCN1):c.11168T>C (p.Val3723Ala)
|
|
|
NM_031935.3(HMCN1):c.11174T>C (p.Leu3725Pro)
|
|
|
NM_031935.3(HMCN1):c.11180A>G (p.Asn3727Ser)
|
|
|
NM_031935.3(HMCN1):c.11191G>T (p.Val3731Leu)
|
rs773110395
|
|
NM_031935.3(HMCN1):c.11199A>C (p.Glu3733Asp)
|
|
|
NM_031935.3(HMCN1):c.11212G>A (p.Gly3738Ser)
|
|
|
NM_031935.3(HMCN1):c.1121C>T (p.Thr374Ile)
|
|
|
NM_031935.3(HMCN1):c.11245G>A (p.Asp3749Asn)
|
|
|
NM_031935.3(HMCN1):c.11255T>G (p.Val3752Gly)
|
|
|
NM_031935.3(HMCN1):c.11264G>A (p.Gly3755Glu)
|
|
|
NM_031935.3(HMCN1):c.11267A>G (p.Asn3756Ser)
|
|
|
NM_031935.3(HMCN1):c.11306A>G (p.His3769Arg)
|
|
|
NM_031935.3(HMCN1):c.11318C>T (p.Ala3773Val)
|
|
|
NM_031935.3(HMCN1):c.1132A>G (p.Lys378Glu)
|
|
|
NM_031935.3(HMCN1):c.11333C>A (p.Thr3778Asn)
|
|
|
NM_031935.3(HMCN1):c.11338C>T (p.Arg3780Trp)
|
|
|
NM_031935.3(HMCN1):c.11342A>G (p.Tyr3781Cys)
|
|
|
NM_031935.3(HMCN1):c.11356A>T (p.Thr3786Ser)
|
|
|
NM_031935.3(HMCN1):c.11362G>A (p.Ala3788Thr)
|
rs777989791
|
|
NM_031935.3(HMCN1):c.11400C>G (p.Val3800=)
|
|
|
NM_031935.3(HMCN1):c.11402A>T (p.His3801Leu)
|
|
|
NM_031935.3(HMCN1):c.11404+9C>T
|
|
|
NM_031935.3(HMCN1):c.11437A>G (p.Met3813Val)
|
|
|
NM_031935.3(HMCN1):c.11446A>C (p.Ile3816Leu)
|
|
|
NM_031935.3(HMCN1):c.11447T>A (p.Ile3816Lys)
|
rs748176085
|
|
NM_031935.3(HMCN1):c.1144C>T (p.His382Tyr)
|
rs753588061
|
|
NM_031935.3(HMCN1):c.11450T>G (p.Val3817Gly)
|
|
|
NM_031935.3(HMCN1):c.11461A>T (p.Thr3821Ser)
|
|
|
NM_031935.3(HMCN1):c.11464A>G (p.Thr3822Ala)
|
|
|
NM_031935.3(HMCN1):c.11488A>T (p.Ile3830Leu)
|
|
|
NM_031935.3(HMCN1):c.11491C>G (p.Pro3831Ala)
|
|
|
NM_031935.3(HMCN1):c.11505C>G (p.Ile3835Met)
|
|
|
NM_031935.3(HMCN1):c.11507A>G (p.Asn3836Ser)
|
rs767569555
|
|
NM_031935.3(HMCN1):c.11525A>G (p.His3842Arg)
|
|
|
NM_031935.3(HMCN1):c.11557T>C (p.Tyr3853His)
|
|
|
NM_031935.3(HMCN1):c.11562-1G>A
|
|
|
NM_031935.3(HMCN1):c.11562G>T (p.Arg3854Ser)
|
|
|
NM_031935.3(HMCN1):c.115G>A (p.Ala39Thr)
|
|
|
NM_031935.3(HMCN1):c.11617A>G (p.Thr3873Ala)
|
|
|
NM_031935.3(HMCN1):c.1162A>G (p.Ile388Val)
|
|
|
NM_031935.3(HMCN1):c.11638A>G (p.Asn3880Asp)
|
|
|
NM_031935.3(HMCN1):c.11641G>A (p.Gly3881Ser)
|
|
|
NM_031935.3(HMCN1):c.11660G>T (p.Arg3887Ile)
|
|
|
NM_031935.3(HMCN1):c.11663C>T (p.Thr3888Ile)
|
|
|
NM_031935.3(HMCN1):c.11665G>A (p.Val3889Met)
|
|
|
NM_031935.3(HMCN1):c.11669A>C (p.Asp3890Ala)
|
|
|
NM_031935.3(HMCN1):c.11683+6A>G
|
|
|
NM_031935.3(HMCN1):c.11695A>G (p.Ile3899Val)
|
|
|
NM_031935.3(HMCN1):c.11726C>T (p.Thr3909Ile)
|
|
|
NM_031935.3(HMCN1):c.11743G>A (p.Val3915Ile)
|
|
|
NM_031935.3(HMCN1):c.11780C>T (p.Ser3927Leu)
|
|
|
NM_031935.3(HMCN1):c.11785C>T (p.His3929Tyr)
|
|
|
NM_031935.3(HMCN1):c.11789G>A (p.Trp3930Ter)
|
|
|
NM_031935.3(HMCN1):c.11812C>A (p.Leu3938Ile)
|
|
|
NM_031935.3(HMCN1):c.11822G>A (p.Gly3941Glu)
|
|
|
NM_031935.3(HMCN1):c.11826T>A (p.Asp3942Glu)
|
|
|
NM_031935.3(HMCN1):c.11830T>G (p.Tyr3944Asp)
|
|
|
NM_031935.3(HMCN1):c.11831A>G (p.Tyr3944Cys)
|
|
|
NM_031935.3(HMCN1):c.11840T>C (p.Leu3947Pro)
|
rs2102481670
|
|
NM_031935.3(HMCN1):c.11848+4A>C
|
|
|
NM_031935.3(HMCN1):c.11849G>A (p.Gly3950Glu)
|
|
|
NM_031935.3(HMCN1):c.11863C>T (p.Leu3955Phe)
|
|
|
NM_031935.3(HMCN1):c.11867C>T (p.Ala3956Val)
|
|
|
NM_031935.3(HMCN1):c.11880C>A (p.Asn3960Lys)
|
|
|
NM_031935.3(HMCN1):c.11882A>G (p.His3961Arg)
|
|
|
NM_031935.3(HMCN1):c.1189C>G (p.Pro397Ala)
|
|
|
NM_031935.3(HMCN1):c.11905G>T (p.Ala3969Ser)
|
|
|
NM_031935.3(HMCN1):c.11944C>T (p.Leu3982Phe)
|
|
|
NM_031935.3(HMCN1):c.11948A>T (p.His3983Leu)
|
|
|
NM_031935.3(HMCN1):c.11956+3A>T
|
|
|
NM_031935.3(HMCN1):c.11971C>G (p.Gln3991Glu)
|
|
|
NM_031935.3(HMCN1):c.11974C>T (p.Pro3992Ser)
|
|
|
NM_031935.3(HMCN1):c.11981C>G (p.Pro3994Arg)
|
|
|
NM_031935.3(HMCN1):c.12041C>T (p.Thr4014Ile)
|
|
|
NM_031935.3(HMCN1):c.12073G>A (p.Gly4025Ser)
|
|
|
NM_031935.3(HMCN1):c.12093A>C (p.Ser4031=)
|
|
|
NM_031935.3(HMCN1):c.12107C>T (p.Ala4036Val)
|
|
|
NM_031935.3(HMCN1):c.12112C>T (p.Leu4038Phe)
|
|
|
NM_031935.3(HMCN1):c.12115C>G (p.Pro4039Ala)
|
|
|
NM_031935.3(HMCN1):c.12124G>A (p.Gly4042Ser)
|
|
|
NM_031935.3(HMCN1):c.12163A>G (p.Thr4055Ala)
|
rs2102488229
|
|
NM_031935.3(HMCN1):c.12169A>C (p.Met4057Leu)
|
|
|
NM_031935.3(HMCN1):c.12169A>G (p.Met4057Val)
|
|
|
NM_031935.3(HMCN1):c.12178G>A (p.Ala4060Thr)
|
|
|
NM_031935.3(HMCN1):c.12188C>T (p.Pro4063Leu)
|
|
|
NM_031935.3(HMCN1):c.12197C>G (p.Thr4066Arg)
|
|
|
NM_031935.3(HMCN1):c.12205G>A (p.Gly4069Ser)
|
|
|
NM_031935.3(HMCN1):c.12224T>C (p.Val4075Ala)
|
|
|
NM_031935.3(HMCN1):c.1222T>C (p.Tyr408His)
|
|
|
NM_031935.3(HMCN1):c.12239T>G (p.Val4080Gly)
|
|
|
NM_031935.3(HMCN1):c.1223A>G (p.Tyr408Cys)
|
|
|
NM_031935.3(HMCN1):c.12242T>C (p.Ile4081Thr)
|
|
|
NM_031935.3(HMCN1):c.12248C>T (p.Pro4083Leu)
|
|
|
NM_031935.3(HMCN1):c.12260A>T (p.Glu4087Val)
|
|
|
NM_031935.3(HMCN1):c.12269T>C (p.Ile4090Thr)
|
|
|
NM_031935.3(HMCN1):c.12275T>G (p.Val4092Gly)
|
|
|
NM_031935.3(HMCN1):c.12284C>T (p.Pro4095Leu)
|
rs761375779
|
|
NM_031935.3(HMCN1):c.12305C>G (p.Ala4102Gly)
|
|
|
NM_031935.3(HMCN1):c.1231G>A (p.Asp411Asn)
|
|
|
NM_031935.3(HMCN1):c.12325G>A (p.Asp4109Asn)
|
|
|
NM_031935.3(HMCN1):c.12347G>T (p.Gly4116Val)
|
|
|
NM_031935.3(HMCN1):c.12370C>T (p.Arg4124Cys)
|
|
|
NM_031935.3(HMCN1):c.12371G>A (p.Arg4124His)
|
|
|
NM_031935.3(HMCN1):c.12388T>C (p.Ser4130Pro)
|
|
|
NM_031935.3(HMCN1):c.12413T>C (p.Val4138Ala)
|
rs1430000255
|
|
NM_031935.3(HMCN1):c.12428C>G (p.Ala4143Gly)
|
|
|
NM_031935.3(HMCN1):c.12493G>A (p.Val4165Ile)
|
|
|
NM_031935.3(HMCN1):c.12502C>T (p.Pro4168Ser)
|
|
|
NM_031935.3(HMCN1):c.12527G>T (p.Gly4176Val)
|
|
|
NM_031935.3(HMCN1):c.12531C>G (p.His4177Gln)
|
|
|
NM_031935.3(HMCN1):c.12535A>G (p.Thr4179Ala)
|
|
|
NM_031935.3(HMCN1):c.12545A>G (p.Glu4182Gly)
|
|
|
NM_031935.3(HMCN1):c.12554A>C (p.Gln4185Pro)
|
|
|
NM_031935.3(HMCN1):c.12590C>T (p.Thr4197Ile)
|
|
|
NM_031935.3(HMCN1):c.12604T>A (p.Trp4202Arg)
|
|
|
NM_031935.3(HMCN1):c.12617A>G (p.Asn4206Ser)
|
|
|
NM_031935.3(HMCN1):c.12659C>T (p.Pro4220Leu)
|
|
|
NM_031935.3(HMCN1):c.12669A>C (p.Glu4223Asp)
|
|
|
NM_031935.3(HMCN1):c.12680A>G (p.Glu4227Gly)
|
|
|
NM_031935.3(HMCN1):c.126_127delinsTT (p.Leu42_Ala43delinsPheSer)
|
|
|
NM_031935.3(HMCN1):c.12725A>T (p.Asn4242Ile)
|
|
|
NM_031935.3(HMCN1):c.12726C>A (p.Asn4242Lys)
|
|
|
NM_031935.3(HMCN1):c.12730G>A (p.Ala4244Thr)
|
|
|
NM_031935.3(HMCN1):c.12737G>A (p.Gly4246Asp)
|
|
|
NM_031935.3(HMCN1):c.1273A>T (p.Ser425Cys)
|
|
|
NM_031935.3(HMCN1):c.12745A>T (p.Thr4249Ser)
|
|
|
NM_031935.3(HMCN1):c.12761T>C (p.Leu4254Pro)
|
|
|
NM_031935.3(HMCN1):c.1276A>C (p.Ile426Leu)
|
|
|
NM_031935.3(HMCN1):c.12788C>T (p.Thr4263Ile)
|
|
|
NM_031935.3(HMCN1):c.12793C>A (p.Leu4265Ile)
|
|
|
NM_031935.3(HMCN1):c.12805G>A (p.Val4269Met)
|
|
|
NM_031935.3(HMCN1):c.12821G>C (p.Gly4274Ala)
|
|
|
NM_031935.3(HMCN1):c.12833G>A (p.Arg4278Gln)
|
|
|
NM_031935.3(HMCN1):c.12839G>C (p.Ser4280Thr)
|
|
|
NM_031935.3(HMCN1):c.12864G>C (p.Leu4288Phe)
|
|
|
NM_031935.3(HMCN1):c.12887A>G (p.Asn4296Ser)
|
|
|
NM_031935.3(HMCN1):c.12905-1G>A
|
|
|
NM_031935.3(HMCN1):c.12920T>C (p.Val4307Ala)
|
|
|
NM_031935.3(HMCN1):c.12926G>A (p.Gly4309Glu)
|
|
|
NM_031935.3(HMCN1):c.12931A>C (p.Ser4311Arg)
|
|
|
NM_031935.3(HMCN1):c.12952G>A (p.Val4318Met)
|
|
|
NM_031935.3(HMCN1):c.12953T>G (p.Val4318Gly)
|
|
|
NM_031935.3(HMCN1):c.12970G>A (p.Gly4324Ser)
|
|
|
NM_031935.3(HMCN1):c.1297G>A (p.Val433Ile)
|
rs1381049052
|
|
NM_031935.3(HMCN1):c.12988G>A (p.Ala4330Thr)
|
|
|
NM_031935.3(HMCN1):c.12989C>T (p.Ala4330Val)
|
|
|
NM_031935.3(HMCN1):c.13000G>A (p.Val4334Ile)
|
|
|
NM_031935.3(HMCN1):c.1301C>T (p.Thr434Met)
|
|
|
NM_031935.3(HMCN1):c.13021G>A (p.Gly4341Arg)
|
|
|
NM_031935.3(HMCN1):c.13027G>T (p.Val4343Phe)
|
|
|
NM_031935.3(HMCN1):c.13031A>T (p.Tyr4344Phe)
|
|
|
NM_031935.3(HMCN1):c.13039+2T>G
|
|
|
NM_031935.3(HMCN1):c.13039+5G>A
|
|
|
NM_031935.3(HMCN1):c.13039+6G>A
|
|
|
NM_031935.3(HMCN1):c.13045_13046delinsGT (p.Pro4349Val)
|
rs2102516381
|
|
NM_031935.3(HMCN1):c.1304T>C (p.Met435Thr)
|
|
|
NM_031935.3(HMCN1):c.13057G>A (p.Gly4353Ser)
|
|
|
NM_031935.3(HMCN1):c.13063dup (p.Tyr4355fs)
|
|
|
NM_031935.3(HMCN1):c.13070C>A (p.Ser4357Tyr)
|
|
|
NM_031935.3(HMCN1):c.13074C>A (p.Asn4358Lys)
|
|
|
NM_031935.3(HMCN1):c.13087C>G (p.Leu4363Val)
|
|
|
NM_031935.3(HMCN1):c.13093G>C (p.Gly4365Arg)
|
|
|
NM_031935.3(HMCN1):c.13102A>G (p.Ile4368Val)
|
|
|
NM_031935.3(HMCN1):c.13103T>A (p.Ile4368Asn)
|
|
|
NM_031935.3(HMCN1):c.1310A>G (p.Glu437Gly)
|
|
|
NM_031935.3(HMCN1):c.13146G>C (p.Gln4382His)
|
|
|
NM_031935.3(HMCN1):c.13169T>C (p.Ile4390Thr)
|
|
|
NM_031935.3(HMCN1):c.13187T>C (p.Ile4396Thr)
|
|
|
NM_031935.3(HMCN1):c.1322G>A (p.Gly441Glu)
|
|
|
NM_031935.3(HMCN1):c.13241C>T (p.Ala4414Val)
|
|
|
NM_031935.3(HMCN1):c.13243G>A (p.Gly4415Ser)
|
|
|
NM_031935.3(HMCN1):c.13248C>A (p.Asp4416Glu)
|
rs1000886295
|
|
NM_031935.3(HMCN1):c.13268A>G (p.Asn4423Ser)
|
|
|
NM_031935.3(HMCN1):c.13271A>G (p.Glu4424Gly)
|
|
|
NM_031935.3(HMCN1):c.13274C>T (p.Ala4425Val)
|
|
|
NM_031935.3(HMCN1):c.13289G>A (p.Arg4430His)
|
|
|
NM_031935.3(HMCN1):c.13313-1G>A
|
|
|
NM_031935.3(HMCN1):c.13346C>T (p.Thr4449Ile)
|
rs758752400
|
|
NM_031935.3(HMCN1):c.13375T>G (p.Leu4459Val)
|
|
|
NM_031935.3(HMCN1):c.1337C>A (p.Pro446Gln)
|
|
|
NM_031935.3(HMCN1):c.1337C>T (p.Pro446Leu)
|
|
|
NM_031935.3(HMCN1):c.13423C>T (p.Arg4475Cys)
|
|
|
NM_031935.3(HMCN1):c.13424G>A (p.Arg4475His)
|
|
|
NM_031935.3(HMCN1):c.13430G>A (p.Gly4477Glu)
|
|
|
NM_031935.3(HMCN1):c.13435T>G (p.Ser4479Ala)
|
|
|
NM_031935.3(HMCN1):c.13441_13442delinsAA (p.Ser4481Asn)
|
rs2102533542
|
|
NM_031935.3(HMCN1):c.13444T>G (p.Trp4482Gly)
|
|
|
NM_031935.3(HMCN1):c.13447G>A (p.Asp4483Asn)
|
|
|
NM_031935.3(HMCN1):c.13453C>T (p.Arg4485Trp)
|
|
|
NM_031935.3(HMCN1):c.13454G>A (p.Arg4485Gln)
|
|
|
NM_031935.3(HMCN1):c.13461C>G (p.Asn4487Lys)
|
|
|
NM_031935.3(HMCN1):c.13486A>G (p.Ile4496Val)
|
|
|
NM_031935.3(HMCN1):c.13500G>C (p.Gln4500His)
|
|
|
NM_031935.3(HMCN1):c.13525T>C (p.Cys4509Arg)
|
rs2102533769
|
|
NM_031935.3(HMCN1):c.13528G>A (p.Val4510Ile)
|
|
|
NM_031935.3(HMCN1):c.13534C>T (p.Arg4512Ter)
|
|
|
NM_031935.3(HMCN1):c.13535G>A (p.Arg4512Gln)
|
|
|
NM_031935.3(HMCN1):c.1354T>C (p.Ser452Pro)
|
|
|
NM_031935.3(HMCN1):c.1355C>G (p.Ser452Cys)
|
|
|
NM_031935.3(HMCN1):c.13582+5G>A
|
|
|
NM_031935.3(HMCN1):c.13583-15A>G
|
|
|
NM_031935.3(HMCN1):c.13589G>A (p.Gly4530Asp)
|
|
|
NM_031935.3(HMCN1):c.13601A>T (p.Gln4534Leu)
|
|
|
NM_031935.3(HMCN1):c.13618G>A (p.Ala4540Thr)
|
|
|
NM_031935.3(HMCN1):c.13621T>C (p.Cys4541Arg)
|
|
|
NM_031935.3(HMCN1):c.13631C>A (p.Thr4544Asn)
|
|
|
NM_031935.3(HMCN1):c.1363A>G (p.Ser455Gly)
|
|
|
NM_031935.3(HMCN1):c.13642G>A (p.Gly4548Ser)
|
|
|
NM_031935.3(HMCN1):c.13661G>A (p.Arg4554His)
|
|
|
NM_031935.3(HMCN1):c.13669A>G (p.Asn4557Asp)
|
|
|
NM_031935.3(HMCN1):c.1367T>C (p.Leu456Pro)
|
|
|
NM_031935.3(HMCN1):c.13681C>G (p.Pro4561Ala)
|
|
|
NM_031935.3(HMCN1):c.13707A>C (p.Gln4569His)
|
|
|
NM_031935.3(HMCN1):c.13726C>G (p.Arg4576Gly)
|
|
|
NM_031935.3(HMCN1):c.13726C>T (p.Arg4576Ter)
|
|
|
NM_031935.3(HMCN1):c.13727G>A (p.Arg4576Gln)
|
|
|
NM_031935.3(HMCN1):c.13736A>C (p.Gln4579Pro)
|
|
|
NM_031935.3(HMCN1):c.13747T>C (p.Cys4583Arg)
|
|
|
NM_031935.3(HMCN1):c.13754-2A>G
|
|
|
NM_031935.3(HMCN1):c.13769C>T (p.Ser4590Leu)
|
|
|
NM_031935.3(HMCN1):c.13810C>T (p.Arg4604Cys)
|
|
|
NM_031935.3(HMCN1):c.13811G>A (p.Arg4604His)
|
|
|
NM_031935.3(HMCN1):c.13813G>A (p.Gly4605Ser)
|
|
|
NM_031935.3(HMCN1):c.13828A>G (p.Thr4610Ala)
|
|
|
NM_031935.3(HMCN1):c.13858C>T (p.His4620Tyr)
|
|
|
NM_031935.3(HMCN1):c.13862G>A (p.Gly4621Asp)
|
|
|
NM_031935.3(HMCN1):c.13882A>G (p.Asn4628Asp)
|
rs2102537023
|
|
NM_031935.3(HMCN1):c.13885G>A (p.Ala4629Thr)
|
|
|
NM_031935.3(HMCN1):c.13889T>C (p.Val4630Ala)
|
|
|
NM_031935.3(HMCN1):c.13921C>G (p.Pro4641Ala)
|
|
|
NM_031935.3(HMCN1):c.13930G>A (p.Gly4644Arg)
|
|
|
NM_031935.3(HMCN1):c.13939A>G (p.Ser4647Gly)
|
|
|
NM_031935.3(HMCN1):c.13940G>A (p.Ser4647Asn)
|
rs1650139224
|
|
NM_031935.3(HMCN1):c.13942G>A (p.Ala4648Thr)
|
|
|
NM_031935.3(HMCN1):c.13942G>T (p.Ala4648Ser)
|
rs367723447
|
|
NM_031935.3(HMCN1):c.1394G>A (p.Arg465Lys)
|
|
|
NM_031935.3(HMCN1):c.13958G>A (p.Gly4653Glu)
|
|
|
NM_031935.3(HMCN1):c.13969G>A (p.Glu4657Lys)
|
|
|
NM_031935.3(HMCN1):c.1396A>T (p.Asn466Tyr)
|
rs2102481097
|
|
NM_031935.3(HMCN1):c.13979G>A (p.Gly4660Glu)
|
|
|
NM_031935.3(HMCN1):c.14016C>A (p.Asn4672Lys)
|
|
|
NM_031935.3(HMCN1):c.14016C>G (p.Asn4672Lys)
|
|
|
NM_031935.3(HMCN1):c.14021C>T (p.Pro4674Leu)
|
|
|
NM_031935.3(HMCN1):c.14026G>T (p.Ala4676Ser)
|
|
|
NM_031935.3(HMCN1):c.14051G>C (p.Gly4684Ala)
|
|
|
NM_031935.3(HMCN1):c.14054C>T (p.Ala4685Val)
|
rs1650146890
|
|
NM_031935.3(HMCN1):c.14066T>C (p.Met4689Thr)
|
|
|
NM_031935.3(HMCN1):c.14095+3A>G
|
|
|
NM_031935.3(HMCN1):c.14099A>G (p.His4700Arg)
|
|
|
NM_031935.3(HMCN1):c.14113A>G (p.Thr4705Ala)
|
rs1315645100
|
|
NM_031935.3(HMCN1):c.14114C>A (p.Thr4705Asn)
|
|
|
NM_031935.3(HMCN1):c.1411G>A (p.Gly471Arg)
|
|
|
NM_031935.3(HMCN1):c.14123G>C (p.Ser4708Thr)
|
|
|
NM_031935.3(HMCN1):c.14128A>G (p.Ser4710Gly)
|
|
|
NM_031935.3(HMCN1):c.14129G>A (p.Ser4710Asn)
|
|
|
NM_031935.3(HMCN1):c.14134T>C (p.Cys4712Arg)
|
|
|
NM_031935.3(HMCN1):c.1415T>C (p.Val472Ala)
|
|
|
NM_031935.3(HMCN1):c.1415T>G (p.Val472Gly)
|
|
|
NM_031935.3(HMCN1):c.14168_14169del (p.Arg4723fs)
|
|
|
NM_031935.3(HMCN1):c.14177G>A (p.Gly4726Asp)
|
|
|
NM_031935.3(HMCN1):c.14183C>T (p.Ser4728Phe)
|
rs1650196834
|
|
NM_031935.3(HMCN1):c.14195C>A (p.Pro4732His)
|
|
|
NM_031935.3(HMCN1):c.14209A>G (p.Arg4737Gly)
|
|
|
NM_031935.3(HMCN1):c.14218G>A (p.Glu4740Lys)
|
|
|
NM_031935.3(HMCN1):c.14221G>A (p.Gly4741Arg)
|
|
|
NM_031935.3(HMCN1):c.14236A>G (p.Ser4746Gly)
|
|
|
NM_031935.3(HMCN1):c.14237G>A (p.Ser4746Asn)
|
|
|
NM_031935.3(HMCN1):c.14249A>G (p.Asn4750Ser)
|
|
|
NM_031935.3(HMCN1):c.14266+7_14266+22del
|
|
|
NM_031935.3(HMCN1):c.14312G>A (p.Arg4771Gln)
|
|
|
NM_031935.3(HMCN1):c.14318G>A (p.Cys4773Tyr)
|
|
|
NM_031935.3(HMCN1):c.14338C>T (p.Arg4780Trp)
|
|
|
NM_031935.3(HMCN1):c.14345G>A (p.Arg4782His)
|
|
|
NM_031935.3(HMCN1):c.14362C>G (p.Pro4788Ala)
|
|
|
NM_031935.3(HMCN1):c.14371A>G (p.Asn4791Asp)
|
|
|
NM_031935.3(HMCN1):c.14416T>C (p.Cys4806Arg)
|
|
|
NM_031935.3(HMCN1):c.14420A>T (p.Asn4807Ile)
|
|
|
NM_031935.3(HMCN1):c.14428A>G (p.Met4810Val)
|
|
|
NM_031935.3(HMCN1):c.1442G>C (p.Ser481Thr)
|
|
|
NM_031935.3(HMCN1):c.14437+3G>A
|
|
|
NM_031935.3(HMCN1):c.14438-2A>G
|
|
|
NM_031935.3(HMCN1):c.14438-3C>T
|
|
|
NM_031935.3(HMCN1):c.14452G>A (p.Gly4818Arg)
|
|
|
NM_031935.3(HMCN1):c.14456G>C (p.Ser4819Thr)
|
|
|
NM_031935.3(HMCN1):c.14467T>C (p.Trp4823Arg)
|
rs2102558306
|
|
NM_031935.3(HMCN1):c.14509C>T (p.Arg4837Trp)
|
|
|
NM_031935.3(HMCN1):c.14516G>A (p.Arg4839Gln)
|
|
|
NM_031935.3(HMCN1):c.14524G>A (p.Asp4842Asn)
|
|
|
NM_031935.3(HMCN1):c.14533G>C (p.Val4845Leu)
|
|
|
NM_031935.3(HMCN1):c.14539G>A (p.Val4847Ile)
|
|
|
NM_031935.3(HMCN1):c.14551C>T (p.Arg4851Cys)
|
|
|
NM_031935.3(HMCN1):c.14552G>A (p.Arg4851His)
|
|
|
NM_031935.3(HMCN1):c.14563G>A (p.Gly4855Arg)
|
|
|
NM_031935.3(HMCN1):c.14570C>A (p.Thr4857Asn)
|
|
|
NM_031935.3(HMCN1):c.1457T>C (p.Ile486Thr)
|
|
|
NM_031935.3(HMCN1):c.14588G>A (p.Cys4863Tyr)
|
|
|
NM_031935.3(HMCN1):c.14615C>T (p.Pro4872Leu)
|
|
|
NM_031935.3(HMCN1):c.1464G>T (p.Lys488Asn)
|
|
|
NM_031935.3(HMCN1):c.14672C>T (p.Ala4891Val)
|
rs2102573780
|
|
NM_031935.3(HMCN1):c.1468A>G (p.Thr490Ala)
|
|
|
NM_031935.3(HMCN1):c.14695G>A (p.Asp4899Asn)
|
|
|
NM_031935.3(HMCN1):c.14701C>G (p.Pro4901Ala)
|
rs920826770
|
|
NM_031935.3(HMCN1):c.14701C>T (p.Pro4901Ser)
|
|
|
NM_031935.3(HMCN1):c.14743G>A (p.Val4915Ile)
|
|
|
NM_031935.3(HMCN1):c.14758+3_14758+6del
|
|
|
NM_031935.3(HMCN1):c.14759-3T>C
|
|
|
NM_031935.3(HMCN1):c.14759G>A (p.Gly4920Asp)
|
|
|
NM_031935.3(HMCN1):c.14767A>G (p.Met4923Val)
|
|
|
NM_031935.3(HMCN1):c.14777_14778del (p.Ile4926fs)
|
|
|
NM_031935.3(HMCN1):c.14792A>G (p.Asn4931Ser)
|
|
|
NM_031935.3(HMCN1):c.1480G>T (p.Glu494Ter)
|
|
|
NM_031935.3(HMCN1):c.14825G>T (p.Gly4942Val)
|
rs1327769785
|
|
NM_031935.3(HMCN1):c.14872G>A (p.Glu4958Lys)
|
|
|
NM_031935.3(HMCN1):c.14897-5C>A
|
|
|
NM_031935.3(HMCN1):c.14911A>C (p.Met4971Leu)
|
|
|
NM_031935.3(HMCN1):c.14918A>T (p.His4973Leu)
|
|
|
NM_031935.3(HMCN1):c.14938T>C (p.Ser4980Pro)
|
|
|
NM_031935.3(HMCN1):c.14941G>A (p.Asp4981Asn)
|
|
|
NM_031935.3(HMCN1):c.14941G>T (p.Asp4981Tyr)
|
|
|
NM_031935.3(HMCN1):c.14944G>A (p.Gly4982Ser)
|
|
|
NM_031935.3(HMCN1):c.14952G>C (p.Leu4984Phe)
|
|
|
NM_031935.3(HMCN1):c.14965G>A (p.Val4989Ile)
|
|
|
NM_031935.3(HMCN1):c.14978A>G (p.Tyr4993Cys)
|
|
|
NM_031935.3(HMCN1):c.15019G>A (p.Asp5007Asn)
|
|
|
NM_031935.3(HMCN1):c.15026C>G (p.Thr5009Arg)
|
rs775634198
|
|
NM_031935.3(HMCN1):c.15039T>G (p.Ile5013Met)
|
|
|
NM_031935.3(HMCN1):c.15043A>G (p.Thr5015Ala)
|
rs767233028
|
|
NM_031935.3(HMCN1):c.15049C>G (p.Pro5017Ala)
|
|
|
NM_031935.3(HMCN1):c.15101del (p.Ser5034fs)
|
|
|
NM_031935.3(HMCN1):c.15139C>A (p.Gln5047Lys)
|
|
|
NM_031935.3(HMCN1):c.15148G>A (p.Gly5050Arg)
|
|
|
NM_031935.3(HMCN1):c.15149G>A (p.Gly5050Glu)
|
|
|
NM_031935.3(HMCN1):c.15194A>G (p.Glu5065Gly)
|
|
|
NM_031935.3(HMCN1):c.15199G>T (p.Asp5067Tyr)
|
|
|
NM_031935.3(HMCN1):c.15238C>T (p.His5080Tyr)
|
|
|
NM_031935.3(HMCN1):c.15256+1G>T
|
|
|
NM_031935.3(HMCN1):c.15256+5T>A
|
|
|
NM_031935.3(HMCN1):c.15257G>A (p.Gly5086Glu)
|
|
|
NM_031935.3(HMCN1):c.15258A>T (p.Gly5086=)
|
|
|
NM_031935.3(HMCN1):c.15262C>T (p.Arg5088Cys)
|
|
|
NM_031935.3(HMCN1):c.15263G>A (p.Arg5088His)
|
|
|
NM_031935.3(HMCN1):c.15265A>G (p.Ser5089Gly)
|
|
|
NM_031935.3(HMCN1):c.15265A>T (p.Ser5089Cys)
|
rs749090856
|
|
NM_031935.3(HMCN1):c.1526G>A (p.Arg509Gln)
|
|
|
NM_031935.3(HMCN1):c.15272A>G (p.Gln5091Arg)
|
|
|
NM_031935.3(HMCN1):c.15274T>C (p.Cys5092Arg)
|
|
|
NM_031935.3(HMCN1):c.15277C>T (p.Pro5093Ser)
|
|
|
NM_031935.3(HMCN1):c.1528G>A (p.Ala510Thr)
|
|
|
NM_031935.3(HMCN1):c.15290C>A (p.Thr5097Asn)
|
|
|
NM_031935.3(HMCN1):c.15302T>C (p.Val5101Ala)
|
|
|
NM_031935.3(HMCN1):c.15329A>C (p.Glu5110Ala)
|
|
|
NM_031935.3(HMCN1):c.15335C>A (p.Ala5112Glu)
|
|
|
NM_031935.3(HMCN1):c.1535C>T (p.Thr512Ile)
|
|
|
NM_031935.3(HMCN1):c.15364C>T (p.His5122Tyr)
|
|
|
NM_031935.3(HMCN1):c.15365A>G (p.His5122Arg)
|
|
|
NM_031935.3(HMCN1):c.15380C>A (p.Thr5127Asn)
|
|
|
NM_031935.3(HMCN1):c.15392C>T (p.Ser5131Phe)
|
|
|
NM_031935.3(HMCN1):c.15410C>T (p.Thr5137Ile)
|
|
|
NM_031935.3(HMCN1):c.15440A>G (p.Asp5147Gly)
|
|
|
NM_031935.3(HMCN1):c.15449A>G (p.Glu5150Gly)
|
|
|
NM_031935.3(HMCN1):c.15470C>T (p.Thr5157Ile)
|
|
|
NM_031935.3(HMCN1):c.15478G>A (p.Ala5160Thr)
|
|
|
NM_031935.3(HMCN1):c.15496A>G (p.Asn5166Asp)
|
|
|
NM_031935.3(HMCN1):c.15502A>G (p.Ile5168Val)
|
|
|
NM_031935.3(HMCN1):c.15505G>A (p.Gly5169Arg)
|
|
|
NM_031935.3(HMCN1):c.15524T>G (p.Val5175Gly)
|
|
|
NM_031935.3(HMCN1):c.15526C>T (p.Arg5176Cys)
|
|
|
NM_031935.3(HMCN1):c.15527G>T (p.Arg5176Leu)
|
rs150494959
|
|
NM_031935.3(HMCN1):c.15541T>C (p.Phe5181Leu)
|
|
|
NM_031935.3(HMCN1):c.15544C>T (p.Arg5182Ter)
|
|
|
NM_031935.3(HMCN1):c.15545G>A (p.Arg5182Gln)
|
|
|
NM_031935.3(HMCN1):c.15545G>T (p.Arg5182Leu)
|
|
|
NM_031935.3(HMCN1):c.15551C>T (p.Thr5184Ile)
|
|
|
NM_031935.3(HMCN1):c.15556G>A (p.Asp5186Asn)
|
|
|
NM_031935.3(HMCN1):c.1555C>T (p.Pro519Ser)
|
|
|
NM_031935.3(HMCN1):c.15566G>A (p.Ser5189Asn)
|
|
|
NM_031935.3(HMCN1):c.15574+4T>A
|
|
|
NM_031935.3(HMCN1):c.15574+4T>C
|
|
|
NM_031935.3(HMCN1):c.15575-1G>T
|
|
|
NM_031935.3(HMCN1):c.15577A>G (p.Ile5193Val)
|
|
|
NM_031935.3(HMCN1):c.15634A>T (p.Ser5212Cys)
|
|
|
NM_031935.3(HMCN1):c.15664C>T (p.Gln5222Ter)
|
|
|
NM_031935.3(HMCN1):c.1568T>C (p.Ile523Thr)
|
|
|
NM_031935.3(HMCN1):c.15691G>A (p.Val5231Met)
|
|
|
NM_031935.3(HMCN1):c.15697G>A (p.Glu5233Lys)
|
|
|
NM_031935.3(HMCN1):c.15699G>C (p.Glu5233Asp)
|
|
|
NM_031935.3(HMCN1):c.15710A>T (p.Asn5237Ile)
|
|
|
NM_031935.3(HMCN1):c.15712G>A (p.Val5238Ile)
|
|
|
NM_031935.3(HMCN1):c.15718A>G (p.Arg5240Gly)
|
|
|
NM_031935.3(HMCN1):c.15724G>T (p.Asp5242Tyr)
|
|
|
NM_031935.3(HMCN1):c.15725A>G (p.Asp5242Gly)
|
|
|
NM_031935.3(HMCN1):c.15745C>T (p.Arg5249Cys)
|
|
|
NM_031935.3(HMCN1):c.15754T>C (p.Tyr5252His)
|
rs1652266749
|
|
NM_031935.3(HMCN1):c.15763A>C (p.Ile5255Leu)
|
|
|
NM_031935.3(HMCN1):c.1576C>T (p.Pro526Ser)
|
|
|
NM_031935.3(HMCN1):c.15775C>G (p.Pro5259Ala)
|
|
|
NM_031935.3(HMCN1):c.15778A>G (p.Asn5260Asp)
|
|
|
NM_031935.3(HMCN1):c.15799A>G (p.Asn5267Asp)
|
|
|
NM_031935.3(HMCN1):c.15803G>A (p.Gly5268Glu)
|
|
|
NM_031935.3(HMCN1):c.15808T>C (p.Cys5270Arg)
|
|
|
NM_031935.3(HMCN1):c.15811A>G (p.Ile5271Val)
|
|
|
NM_031935.3(HMCN1):c.1582A>G (p.Asn528Asp)
|
|
|
NM_031935.3(HMCN1):c.15859C>A (p.Gln5287Lys)
|
|
|
NM_031935.3(HMCN1):c.15868G>A (p.Glu5290Lys)
|
|
|
NM_031935.3(HMCN1):c.15889C>T (p.Arg5297Cys)
|
|
|
NM_031935.3(HMCN1):c.1588A>G (p.Thr530Ala)
|
|
|
NM_031935.3(HMCN1):c.15890G>A (p.Arg5297His)
|
|
|
NM_031935.3(HMCN1):c.15893G>A (p.Cys5298Tyr)
|
|
|
NM_031935.3(HMCN1):c.1589C>G (p.Thr530Arg)
|
rs189951644
|
|
NM_031935.3(HMCN1):c.15904A>G (p.Arg5302Gly)
|
|
|
NM_031935.3(HMCN1):c.15913C>T (p.Arg5305Trp)
|
|
|
NM_031935.3(HMCN1):c.15940A>C (p.Met5314Leu)
|
|
|
NM_031935.3(HMCN1):c.15941T>C (p.Met5314Thr)
|
|
|
NM_031935.3(HMCN1):c.15943+1G>T
|
rs377293468
|
|
NM_031935.3(HMCN1):c.1597C>T (p.Pro533Ser)
|
|
|
NM_031935.3(HMCN1):c.15983A>G (p.His5328Arg)
|
|
|
NM_031935.3(HMCN1):c.15998C>A (p.Thr5333Asn)
|
|
|
NM_031935.3(HMCN1):c.15998C>T (p.Thr5333Ile)
|
|
|
NM_031935.3(HMCN1):c.16003G>A (p.Gly5335Ser)
|
|
|
NM_031935.3(HMCN1):c.16010T>G (p.Phe5337Cys)
|
rs2102655079
|
|
NM_031935.3(HMCN1):c.16027C>T (p.Pro5343Ser)
|
|
|
NM_031935.3(HMCN1):c.16028C>A (p.Pro5343Gln)
|
rs1558285041
|
|
NM_031935.3(HMCN1):c.16032ACA[1] (p.Gln5345del)
|
rs780673178
|
|
NM_031935.3(HMCN1):c.16051G>A (p.Gly5351Arg)
|
|
|
NM_031935.3(HMCN1):c.16063G>C (p.Ala5355Pro)
|
rs775803858
|
|
NM_031935.3(HMCN1):c.16077G>C (p.Arg5359Ser)
|
|
|
NM_031935.3(HMCN1):c.1607G>A (p.Arg536Lys)
|
|
|
NM_031935.3(HMCN1):c.1607G>C (p.Arg536Thr)
|
|
|
NM_031935.3(HMCN1):c.16094C>T (p.Thr5365Ile)
|
|
|
NM_031935.3(HMCN1):c.16100A>G (p.Tyr5367Cys)
|
|
|
NM_031935.3(HMCN1):c.16114C>T (p.Leu5372Phe)
|
|
|
NM_031935.3(HMCN1):c.16118C>T (p.Ala5373Val)
|
|
|
NM_031935.3(HMCN1):c.16120C>T (p.Arg5374Trp)
|
|
|
NM_031935.3(HMCN1):c.16132G>A (p.Val5378Met)
|
|
|
NM_031935.3(HMCN1):c.16142A>G (p.Asn5381Ser)
|
|
|
NM_031935.3(HMCN1):c.16157A>G (p.Gln5386Arg)
|
|
|
NM_031935.3(HMCN1):c.16173C>G (p.Tyr5391Ter)
|
|
|
NM_031935.3(HMCN1):c.16178A>T (p.His5393Leu)
|
|
|
NM_031935.3(HMCN1):c.16193A>C (p.Tyr5398Ser)
|
|
|
NM_031935.3(HMCN1):c.16195T>G (p.Ser5399Ala)
|
|
|
NM_031935.3(HMCN1):c.16208A>G (p.Asn5403Ser)
|
|
|
NM_031935.3(HMCN1):c.16213A>G (p.Arg5405Gly)
|
|
|
NM_031935.3(HMCN1):c.16226C>T (p.Ser5409Phe)
|
|
|
NM_031935.3(HMCN1):c.16243A>G (p.Ile5415Val)
|
|
|
NM_031935.3(HMCN1):c.16265G>C (p.Gly5422Ala)
|
|
|
NM_031935.3(HMCN1):c.16265G>T (p.Gly5422Val)
|
|
|
NM_031935.3(HMCN1):c.16273G>A (p.Ala5425Thr)
|
|
|
NM_031935.3(HMCN1):c.16280A>G (p.His5427Arg)
|
|
|
NM_031935.3(HMCN1):c.16281T>A (p.His5427Gln)
|
|
|
NM_031935.3(HMCN1):c.1628T>A (p.Ile543Asn)
|
|
|
NM_031935.3(HMCN1):c.16294+4A>T
|
|
|
NM_031935.3(HMCN1):c.16339A>G (p.Lys5447Glu)
|
|
|
NM_031935.3(HMCN1):c.1637C>T (p.Ala546Val)
|
|
|
NM_031935.3(HMCN1):c.16382A>G (p.Tyr5461Cys)
|
|
|
NM_031935.3(HMCN1):c.16391C>A (p.Thr5464Lys)
|
|
|
NM_031935.3(HMCN1):c.16396A>C (p.Asn5466His)
|
|
|
NM_031935.3(HMCN1):c.1648A>T (p.Asn550Tyr)
|
|
|
NM_031935.3(HMCN1):c.16549C>T (p.Leu5517Phe)
|
|
|
NM_031935.3(HMCN1):c.16564C>A (p.Pro5522Thr)
|
|
|
NM_031935.3(HMCN1):c.16612C>A (p.Leu5538Ile)
|
|
|
NM_031935.3(HMCN1):c.16612C>T (p.Leu5538Phe)
|
rs369798131
|
|
NM_031935.3(HMCN1):c.16615G>A (p.Val5539Ile)
|
|
|
NM_031935.3(HMCN1):c.16639A>T (p.Thr5547Ser)
|
|
|
NM_031935.3(HMCN1):c.16654A>G (p.Ile5552Val)
|
|
|
NM_031935.3(HMCN1):c.16654A>T (p.Ile5552Phe)
|
|
|
NM_031935.3(HMCN1):c.16703C>T (p.Thr5568Ile)
|
|
|
NM_031935.3(HMCN1):c.16708C>T (p.Leu5570Phe)
|
|
|
NM_031935.3(HMCN1):c.16780A>G (p.Thr5594Ala)
|
|
|
NM_031935.3(HMCN1):c.16784G>A (p.Arg5595Gln)
|
|
|
NM_031935.3(HMCN1):c.16810C>T (p.Arg5604Cys)
|
|
|
NM_031935.3(HMCN1):c.16819G>A (p.Val5607Ile)
|
|
|
NM_031935.3(HMCN1):c.16823G>A (p.Arg5608Gln)
|
|
|
NM_031935.3(HMCN1):c.16834T>G (p.Tyr5612Asp)
|
|
|
NM_031935.3(HMCN1):c.16844A>G (p.Asn5615Ser)
|
|
|
NM_031935.3(HMCN1):c.16872C>A (p.Phe5624Leu)
|
|
|
NM_031935.3(HMCN1):c.16873A>G (p.Ile5625Val)
|
|
|
NM_031935.3(HMCN1):c.16876G>C (p.Val5626Leu)
|
|
|
NM_031935.3(HMCN1):c.16884A>G (p.Ile5628Met)
|
|
|
NM_031935.3(HMCN1):c.16886C>G (p.Ala5629Gly)
|
|
|
NM_031935.3(HMCN1):c.1697C>T (p.Ala566Val)
|
|
|
NM_031935.3(HMCN1):c.16G>A (p.Val6Ile)
|
|
|
NM_031935.3(HMCN1):c.1720C>A (p.Leu574Met)
|
|
|
NM_031935.3(HMCN1):c.1759G>A (p.Gly587Arg)
|
|
|
NM_031935.3(HMCN1):c.1778T>C (p.Val593Ala)
|
|
|
NM_031935.3(HMCN1):c.1780T>A (p.Ser594Thr)
|
|
|
NM_031935.3(HMCN1):c.1804G>A (p.Ala602Thr)
|
|
|
NM_031935.3(HMCN1):c.1817T>G (p.Leu606Arg)
|
|
|
NM_031935.3(HMCN1):c.1822G>C (p.Val608Leu)
|
|
|
NM_031935.3(HMCN1):c.1828+3A>G
|
|
|
NM_031935.3(HMCN1):c.1856A>G (p.Lys619Arg)
|
rs373160107
|
|
NM_031935.3(HMCN1):c.1903G>C (p.Ala635Pro)
|
|
|
NM_031935.3(HMCN1):c.1913A>G (p.Tyr638Cys)
|
|
|
NM_031935.3(HMCN1):c.1918A>G (p.Lys640Glu)
|
|
|
NM_031935.3(HMCN1):c.1921C>T (p.Pro641Ser)
|
|
|
NM_031935.3(HMCN1):c.1926G>T (p.Lys642Asn)
|
|
|
NM_031935.3(HMCN1):c.1945G>A (p.Asp649Asn)
|
|
|
NM_031935.3(HMCN1):c.1949T>C (p.Met650Thr)
|
|
|
NM_031935.3(HMCN1):c.1957G>A (p.Val653Met)
|
|
|
NM_031935.3(HMCN1):c.1970+12G>A
|
|
|
NM_031935.3(HMCN1):c.1973A>T (p.Tyr658Phe)
|
|
|
NM_031935.3(HMCN1):c.200T>C (p.Leu67Ser)
|
|
|
NM_031935.3(HMCN1):c.2030G>A (p.Gly677Glu)
|
|
|
NM_031935.3(HMCN1):c.2072A>G (p.Lys691Arg)
|
|
|
NM_031935.3(HMCN1):c.2075A>G (p.Gln692Arg)
|
|
|
NM_031935.3(HMCN1):c.2095A>G (p.Ile699Val)
|
|
|
NM_031935.3(HMCN1):c.2104C>T (p.Pro702Ser)
|
|
|
NM_031935.3(HMCN1):c.2105C>T (p.Pro702Leu)
|
|
|
NM_031935.3(HMCN1):c.2131C>T (p.Leu711Phe)
|
|
|
NM_031935.3(HMCN1):c.2138_2147del (p.Val713fs)
|
rs747533230
|
|
NM_031935.3(HMCN1):c.2150A>T (p.Asp717Val)
|
|
|
NM_031935.3(HMCN1):c.2194C>G (p.Gln732Glu)
|
|
|
NM_031935.3(HMCN1):c.2205G>C (p.Trp735Cys)
|
|
|
NM_031935.3(HMCN1):c.2212+4C>T
|
|
|
NM_031935.3(HMCN1):c.2257C>G (p.Leu753Val)
|
|
|
NM_031935.3(HMCN1):c.2275A>T (p.Ile759Phe)
|
|
|
NM_031935.3(HMCN1):c.2287C>G (p.Gln763Glu)
|
|
|
NM_031935.3(HMCN1):c.2317G>A (p.Val773Ile)
|
|
|
NM_031935.3(HMCN1):c.2318T>G (p.Val773Gly)
|
|
|
NM_031935.3(HMCN1):c.2320G>A (p.Ala774Thr)
|
|
|
NM_031935.3(HMCN1):c.2326A>C (p.Asn776His)
|
rs1183242164
|
|
NM_031935.3(HMCN1):c.2344A>G (p.Thr782Ala)
|
|
|
NM_031935.3(HMCN1):c.2362G>A (p.Asp788Asn)
|
|
|
NM_031935.3(HMCN1):c.2369G>A (p.Gly790Asp)
|
rs752448870
|
|
NM_031935.3(HMCN1):c.2374C>T (p.Pro792Ser)
|
|
|
NM_031935.3(HMCN1):c.2375C>T (p.Pro792Leu)
|
|
|
NM_031935.3(HMCN1):c.2388A>G (p.Ile796Met)
|
|
|
NM_031935.3(HMCN1):c.23A>T (p.His8Leu)
|
|
|
NM_031935.3(HMCN1):c.2411T>C (p.Met804Thr)
|
rs1447338870
|
|
NM_031935.3(HMCN1):c.2414A>C (p.Glu805Ala)
|
|
|
NM_031935.3(HMCN1):c.2425A>G (p.Asn809Asp)
|
|
|
NM_031935.3(HMCN1):c.2441G>C (p.Cys814Ser)
|
|
|
NM_031935.3(HMCN1):c.2455T>G (p.Tyr819Asp)
|
|
|
NM_031935.3(HMCN1):c.2467A>G (p.Thr823Ala)
|
|
|
NM_031935.3(HMCN1):c.2470A>G (p.Ile824Val)
|
|
|
NM_031935.3(HMCN1):c.2480G>A (p.Arg827Gln)
|
|
|
NM_031935.3(HMCN1):c.2489A>G (p.Asp830Gly)
|
|
|
NM_031935.3(HMCN1):c.2498C>T (p.Pro833Leu)
|
|
|
NM_031935.3(HMCN1):c.2507C>A (p.Ser836Ter)
|
|
|
NM_031935.3(HMCN1):c.2513C>T (p.Pro838Leu)
|
|
|
NM_031935.3(HMCN1):c.2532C>T (p.Ile844=)
|
|
|
NM_031935.3(HMCN1):c.254C>G (p.Pro85Arg)
|
|
|
NM_031935.3(HMCN1):c.254C>T (p.Pro85Leu)
|
|
|
NM_031935.3(HMCN1):c.2588_2589delinsTG (p.Gly863Val)
|
|
|
NM_031935.3(HMCN1):c.2623A>G (p.Lys875Glu)
|
|
|
NM_031935.3(HMCN1):c.2637G>T (p.Glu879Asp)
|
|
|
NM_031935.3(HMCN1):c.2650G>A (p.Val884Met)
|
|
|
NM_031935.3(HMCN1):c.269-3C>T
|
|
|
NM_031935.3(HMCN1):c.271A>G (p.Ile91Val)
|
|
|
NM_031935.3(HMCN1):c.2744C>T (p.Ala915Val)
|
|
|
NM_031935.3(HMCN1):c.274G>T (p.Gly92Cys)
|
|
|
NM_031935.3(HMCN1):c.275G>A (p.Gly92Asp)
|
|
|
NM_031935.3(HMCN1):c.2764C>A (p.Arg922Ser)
|
rs371598243
|
|
NM_031935.3(HMCN1):c.2764C>T (p.Arg922Cys)
|
|
|
NM_031935.3(HMCN1):c.2767C>T (p.Arg923Trp)
|
|
|
NM_031935.3(HMCN1):c.2803C>T (p.Pro935Ser)
|
|
|
NM_031935.3(HMCN1):c.2827G>A (p.Gly943Arg)
|
|
|
NM_031935.3(HMCN1):c.2845del (p.Arg949fs)
|
|
|
NM_031935.3(HMCN1):c.2853G>T (p.Gln951His)
|
|
|
NM_031935.3(HMCN1):c.2861A>G (p.Asp954Gly)
|
|
|
NM_031935.3(HMCN1):c.2893G>A (p.Val965Ile)
|
|
|
NM_031935.3(HMCN1):c.2910del (p.Asn970fs)
|
|
|
NM_031935.3(HMCN1):c.2931_2932delinsAA (p.His978Asn)
|
|
|
NM_031935.3(HMCN1):c.2945C>A (p.Thr982Asn)
|
|
|
NM_031935.3(HMCN1):c.2952G>T (p.Gln984His)
|
|
|
NM_031935.3(HMCN1):c.2959CAG[3] (p.Gln988dup)
|
rs2102018182
|
|
NM_031935.3(HMCN1):c.2996C>G (p.Thr999Ser)
|
|
|
NM_031935.3(HMCN1):c.2999T>C (p.Leu1000Ser)
|
|
|
NM_031935.3(HMCN1):c.3001C>T (p.Pro1001Ser)
|
|
|
NM_031935.3(HMCN1):c.3062T>C (p.Ile1021Thr)
|
|
|
NM_031935.3(HMCN1):c.3076G>A (p.Ala1026Thr)
|
|
|
NM_031935.3(HMCN1):c.3111T>A (p.Tyr1037Ter)
|
|
|
NM_031935.3(HMCN1):c.313T>A (p.Tyr105Asn)
|
|
|
NM_031935.3(HMCN1):c.3155C>A (p.Thr1052Asn)
|
|
|
NM_031935.3(HMCN1):c.3194A>G (p.Gln1065Arg)
|
|
|
NM_031935.3(HMCN1):c.3206A>G (p.Tyr1069Cys)
|
|
|
NM_031935.3(HMCN1):c.3206A>T (p.Tyr1069Phe)
|
|
|
NM_031935.3(HMCN1):c.3209-5T>C
|
|
|
NM_031935.3(HMCN1):c.3217A>G (p.Arg1073Gly)
|
|
|
NM_031935.3(HMCN1):c.323G>A (p.Arg108Lys)
|
|
|
NM_031935.3(HMCN1):c.3271G>A (p.Val1091Ile)
|
|
|
NM_031935.3(HMCN1):c.3291A>G (p.Val1097=)
|
|
|
NM_031935.3(HMCN1):c.3323C>T (p.Pro1108Leu)
|
|
|
NM_031935.3(HMCN1):c.3335C>G (p.Thr1112Ser)
|
|
|
NM_031935.3(HMCN1):c.3365C>T (p.Pro1122Leu)
|
|
|
NM_031935.3(HMCN1):c.338A>G (p.Gln113Arg)
|
|
|
NM_031935.3(HMCN1):c.339+3G>A
|
|
|
NM_031935.3(HMCN1):c.3391C>T (p.Pro1131Ser)
|
|
|
NM_031935.3(HMCN1):c.339G>A (p.Gln113=)
|
|
|
NM_031935.3(HMCN1):c.3430G>A (p.Asp1144Asn)
|
|
|
NM_031935.3(HMCN1):c.3458C>T (p.Thr1153Ile)
|
|
|
NM_031935.3(HMCN1):c.3465T>G (p.Ile1155Met)
|
rs2102037062
|
|
NM_031935.3(HMCN1):c.3474T>A (p.Asn1158Lys)
|
|
|
NM_031935.3(HMCN1):c.3479C>T (p.Thr1160Ile)
|
|
|
NM_031935.3(HMCN1):c.3482A>G (p.Gln1161Arg)
|
|
|
NM_031935.3(HMCN1):c.3491A>G (p.Lys1164Arg)
|
|
|
NM_031935.3(HMCN1):c.3506T>A (p.Val1169Asp)
|
|
|
NM_031935.3(HMCN1):c.3514A>G (p.Lys1172Glu)
|
|
|
NM_031935.3(HMCN1):c.3518T>C (p.Ile1173Thr)
|
|
|
NM_031935.3(HMCN1):c.3520C>A (p.Gln1174Lys)
|
|
|
NM_031935.3(HMCN1):c.3523C>G (p.Arg1175Gly)
|
rs147236265
|
|
NM_031935.3(HMCN1):c.3523C>T (p.Arg1175Cys)
|
|
|
NM_031935.3(HMCN1):c.3560G>T (p.Arg1187Ile)
|
|
|
NM_031935.3(HMCN1):c.3575G>A (p.Cys1192Tyr)
|
rs2102042948
|
|
NM_031935.3(HMCN1):c.3586G>C (p.Gly1196Arg)
|
|
|
NM_031935.3(HMCN1):c.3588G>T (p.Gly1196=)
|
|
|
NM_031935.3(HMCN1):c.3598C>T (p.Pro1200Ser)
|
|
|
NM_031935.3(HMCN1):c.3641A>G (p.Asp1214Gly)
|
|
|
NM_031935.3(HMCN1):c.3664C>T (p.Pro1222Ser)
|
|
|
NM_031935.3(HMCN1):c.3688C>A (p.Gln1230Lys)
|
|
|
NM_031935.3(HMCN1):c.368T>C (p.Ile123Thr)
|
|
|
NM_031935.3(HMCN1):c.3714A>G (p.Ile1238Met)
|
|
|
NM_031935.3(HMCN1):c.371G>A (p.Gly124Glu)
|
|
|
NM_031935.3(HMCN1):c.3722G>T (p.Cys1241Phe)
|
|
|
NM_031935.3(HMCN1):c.3743G>A (p.Gly1248Asp)
|
|
|
NM_031935.3(HMCN1):c.3759_3760del (p.Glu1253fs)
|
rs1461614882
|
|
NM_031935.3(HMCN1):c.3761T>C (p.Ile1254Thr)
|
|
|
NM_031935.3(HMCN1):c.3776A>T (p.Gln1259Leu)
|
|
|
NM_031935.3(HMCN1):c.3784C>T (p.Pro1262Ser)
|
|
|
NM_031935.3(HMCN1):c.3805C>A (p.Pro1269Thr)
|
rs2102052587
|
|
NM_031935.3(HMCN1):c.380A>G (p.Lys127Arg)
|
|
|
NM_031935.3(HMCN1):c.3812A>G (p.Tyr1271Cys)
|
|
|
NM_031935.3(HMCN1):c.3835G>C (p.Val1279Leu)
|
|
|
NM_031935.3(HMCN1):c.3842A>G (p.Asn1281Ser)
|
|
|
NM_031935.3(HMCN1):c.3844C>A (p.Gln1282Lys)
|
|
|
NM_031935.3(HMCN1):c.3847C>T (p.Arg1283Cys)
|
|
|
NM_031935.3(HMCN1):c.3848G>A (p.Arg1283His)
|
|
|
NM_031935.3(HMCN1):c.3851T>C (p.Ile1284Thr)
|
|
|
NM_031935.3(HMCN1):c.385G>T (p.Ala129Ser)
|
|
|
NM_031935.3(HMCN1):c.3874+1G>A
|
|
|
NM_031935.3(HMCN1):c.3874+2T>C
|
|
|
NM_031935.3(HMCN1):c.3874+3A>G
|
|
|
NM_031935.3(HMCN1):c.3874+4C>T
|
|
|
NM_031935.3(HMCN1):c.3874+6T>C
|
|
|
NM_031935.3(HMCN1):c.3889A>G (p.Thr1297Ala)
|
|
|
NM_031935.3(HMCN1):c.3889A>T (p.Thr1297Ser)
|
|
|
NM_031935.3(HMCN1):c.3900G>T (p.Trp1300Cys)
|
|
|
NM_031935.3(HMCN1):c.3910G>A (p.Gly1304Ser)
|
rs2102062052
|
|
NM_031935.3(HMCN1):c.3917A>G (p.Glu1306Gly)
|
|
|
NM_031935.3(HMCN1):c.3947T>C (p.Ile1316Thr)
|
rs1558130867
|
|
NM_031935.3(HMCN1):c.3961A>G (p.Thr1321Ala)
|
|
|
NM_031935.3(HMCN1):c.3970G>T (p.Val1324Phe)
|
|
|
NM_031935.3(HMCN1):c.3977C>A (p.Ala1326Asp)
|
|
|
NM_031935.3(HMCN1):c.4003G>A (p.Glu1335Lys)
|
|
|
NM_031935.3(HMCN1):c.4018G>T (p.Ala1340Ser)
|
|
|
NM_031935.3(HMCN1):c.4069+10G>A
|
|
|
NM_031935.3(HMCN1):c.4076C>T (p.Pro1359Leu)
|
|
|
NM_031935.3(HMCN1):c.407G>T (p.Gly136Val)
|
rs755376220
|
|
NM_031935.3(HMCN1):c.4127A>C (p.Gln1376Pro)
|
rs2102067408
|
|
NM_031935.3(HMCN1):c.4160C>T (p.Thr1387Ile)
|
|
|
NM_031935.3(HMCN1):c.4177A>G (p.Met1393Val)
|
|
|
NM_031935.3(HMCN1):c.4184A>T (p.Tyr1395Phe)
|
|
|
NM_031935.3(HMCN1):c.4188A>T (p.Lys1396Asn)
|
|
|
NM_031935.3(HMCN1):c.4201-9C>A
|
rs748273446
|
|
NM_031935.3(HMCN1):c.4207G>A (p.Glu1403Lys)
|
|
|
NM_031935.3(HMCN1):c.4214G>A (p.Ser1405Asn)
|
|
|
NM_031935.3(HMCN1):c.4229_4230del (p.Val1410fs)
|
|
|
NM_031935.3(HMCN1):c.4235A>G (p.Asn1412Ser)
|
|
|
NM_031935.3(HMCN1):c.4235_4246dup (p.Ile1415_Leu1416insHisGlyLysIle)
|
|
|
NM_031935.3(HMCN1):c.4279G>A (p.Gly1427Arg)
|
rs2102068632
|
|
NM_031935.3(HMCN1):c.4282A>G (p.Arg1428Gly)
|
|
|
NM_031935.3(HMCN1):c.4304A>G (p.Asn1435Ser)
|
|
|
NM_031935.3(HMCN1):c.4313G>T (p.Gly1438Val)
|
|
|
NM_031935.3(HMCN1):c.4328A>G (p.Tyr1443Cys)
|
|
|
NM_031935.3(HMCN1):c.4358C>A (p.Thr1453Asn)
|
|
|
NM_031935.3(HMCN1):c.4369A>G (p.Thr1457Ala)
|
|
|
NM_031935.3(HMCN1):c.4394T>G (p.Val1465Gly)
|
|
|
NM_031935.3(HMCN1):c.4414G>A (p.Ala1472Thr)
|
|
|
NM_031935.3(HMCN1):c.4435G>C (p.Gly1479Arg)
|
|
|
NM_031935.3(HMCN1):c.446A>T (p.Asp149Val)
|
|
|
NM_031935.3(HMCN1):c.4475A>G (p.Lys1492Arg)
|
|
|
NM_031935.3(HMCN1):c.4481T>C (p.Leu1494Ser)
|
|
|
NM_031935.3(HMCN1):c.4510C>G (p.Leu1504Val)
|
|
|
NM_031935.3(HMCN1):c.451C>T (p.Arg151Trp)
|
|
|
NM_031935.3(HMCN1):c.4520G>C (p.Gly1507Ala)
|
|
|
NM_031935.3(HMCN1):c.4523A>G (p.Gln1508Arg)
|
|
|
NM_031935.3(HMCN1):c.452G>A (p.Arg151Gln)
|
|
|
NM_031935.3(HMCN1):c.4558A>C (p.Lys1520Gln)
|
|
|
NM_031935.3(HMCN1):c.4574G>A (p.Cys1525Tyr)
|
|
|
NM_031935.3(HMCN1):c.4576A>T (p.Thr1526Ser)
|
|
|
NM_031935.3(HMCN1):c.4583C>T (p.Ser1528Phe)
|
|
|
NM_031935.3(HMCN1):c.4624A>G (p.Ile1542Val)
|
rs2102095661
|
|
NM_031935.3(HMCN1):c.4629T>C (p.Tyr1543=)
|
|
|
NM_031935.3(HMCN1):c.462T>A (p.His154Gln)
|
|
|
NM_031935.3(HMCN1):c.4641T>A (p.Ser1547Arg)
|
|
|
NM_031935.3(HMCN1):c.4657G>A (p.Val1553Ile)
|
|
|
NM_031935.3(HMCN1):c.4667A>G (p.Asp1556Gly)
|
|
|
NM_031935.3(HMCN1):c.4673C>A (p.Ser1558Ter)
|
rs483352757
|
|
NM_031935.3(HMCN1):c.4681A>G (p.Ile1561Val)
|
|
|
NM_031935.3(HMCN1):c.4703A>C (p.Glu1568Ala)
|
|
|
NM_031935.3(HMCN1):c.4714C>T (p.Arg1572Trp)
|
|
|
NM_031935.3(HMCN1):c.4715G>A (p.Arg1572Gln)
|
|
|
NM_031935.3(HMCN1):c.4733C>A (p.Ala1578Asp)
|
|
|
NM_031935.3(HMCN1):c.4738A>G (p.Thr1580Ala)
|
|
|
NM_031935.3(HMCN1):c.4752C>A (p.Asp1584Glu)
|
|
|
NM_031935.3(HMCN1):c.4753G>A (p.Gly1585Arg)
|
|
|
NM_031935.3(HMCN1):c.4767G>T (p.Met1589Ile)
|
|
|
NM_031935.3(HMCN1):c.4778A>C (p.Gln1593Pro)
|
|
|
NM_031935.3(HMCN1):c.4781C>T (p.Ala1594Val)
|
|
|
NM_031935.3(HMCN1):c.4787A>T (p.Tyr1596Phe)
|
|
|
NM_031935.3(HMCN1):c.4796_4798del (p.Lys1599_Gly1600delinsArg)
|
|
|
NM_031935.3(HMCN1):c.4801C>A (p.Gln1601Lys)
|
rs921020423
|
|
NM_031935.3(HMCN1):c.4805A>G (p.Tyr1602Cys)
|
|
|
NM_031935.3(HMCN1):c.4816C>A (p.Pro1606Thr)
|
|
|
NM_031935.3(HMCN1):c.4819C>G (p.Arg1607Gly)
|
|
|
NM_031935.3(HMCN1):c.4820G>A (p.Arg1607Gln)
|
|
|
NM_031935.3(HMCN1):c.4832C>G (p.Ser1611Cys)
|
|
|
NM_031935.3(HMCN1):c.4844C>T (p.Thr1615Ile)
|
|
|
NM_031935.3(HMCN1):c.4857_4858inv (p.Val1620Ile)
|
|
|
NM_031935.3(HMCN1):c.4859T>C (p.Val1620Ala)
|
|
|
NM_031935.3(HMCN1):c.4892T>G (p.Phe1631Cys)
|
rs765224895
|
|
NM_031935.3(HMCN1):c.4909+6G>A
|
|
|
NM_031935.3(HMCN1):c.490C>T (p.Gln164Ter)
|
|
|
NM_031935.3(HMCN1):c.4910T>G (p.Val1637Gly)
|
|
|
NM_031935.3(HMCN1):c.4919T>C (p.Met1640Thr)
|
|
|
NM_031935.3(HMCN1):c.4927G>C (p.Gly1643Arg)
|
|
|
NM_031935.3(HMCN1):c.4936G>A (p.Ala1646Thr)
|
|
|
NM_031935.3(HMCN1):c.4939A>G (p.Thr1647Ala)
|
|
|
NM_031935.3(HMCN1):c.4957G>A (p.Val1653Ile)
|
|
|
NM_031935.3(HMCN1):c.4961T>C (p.Val1654Ala)
|
|
|
NM_031935.3(HMCN1):c.4965T>G (p.Ile1655Met)
|
|
|
NM_031935.3(HMCN1):c.498+10A>T
|
|
|
NM_031935.3(HMCN1):c.4997del (p.Ala1666fs)
|
|
|
NM_031935.3(HMCN1):c.502G>A (p.Val168Ile)
|
|
|
NM_031935.3(HMCN1):c.502G>T (p.Val168Leu)
|
|
|
NM_031935.3(HMCN1):c.5041C>T (p.Pro1681Ser)
|
|
|
NM_031935.3(HMCN1):c.5057A>G (p.Asp1686Gly)
|
|
|
NM_031935.3(HMCN1):c.5060A>G (p.Asn1687Ser)
|
|
|
NM_031935.3(HMCN1):c.5061T>G (p.Asn1687Lys)
|
|
|
NM_031935.3(HMCN1):c.5065C>T (p.Arg1689Cys)
|
|
|
NM_031935.3(HMCN1):c.5066G>A (p.Arg1689His)
|
|
|
NM_031935.3(HMCN1):c.5066G>T (p.Arg1689Leu)
|
|
|
NM_031935.3(HMCN1):c.5078G>C (p.Gly1693Ala)
|
|
|
NM_031935.3(HMCN1):c.508G>A (p.Val170Ile)
|
|
|
NM_031935.3(HMCN1):c.5092G>A (p.Glu1698Lys)
|
|
|
NM_031935.3(HMCN1):c.50A>T (p.Tyr17Phe)
|
|
|
NM_031935.3(HMCN1):c.5126A>T (p.Gln1709Leu)
|
|
|
NM_031935.3(HMCN1):c.5132T>C (p.Ile1711Thr)
|
|
|
NM_031935.3(HMCN1):c.514A>T (p.Thr172Ser)
|
rs2102358412
|
|
NM_031935.3(HMCN1):c.5171A>G (p.Lys1724Arg)
|
rs540910084
|
|
NM_031935.3(HMCN1):c.5190G>T (p.Leu1730Phe)
|
rs140707354
|
|
NM_031935.3(HMCN1):c.5222C>T (p.Thr1741Ile)
|
|
|
NM_031935.3(HMCN1):c.5236G>C (p.Val1746Leu)
|
|
|
NM_031935.3(HMCN1):c.5236G>T (p.Val1746Leu)
|
|
|
NM_031935.3(HMCN1):c.5243T>C (p.Val1748Ala)
|
|
|
NM_031935.3(HMCN1):c.5276C>A (p.Thr1759Lys)
|
|
|
NM_031935.3(HMCN1):c.5290C>T (p.Pro1764Ser)
|
|
|
NM_031935.3(HMCN1):c.5294C>T (p.Thr1765Ile)
|
|
|
NM_031935.3(HMCN1):c.5300+17G>A
|
|
|
NM_031935.3(HMCN1):c.5300+6G>C
|
|
|
NM_031935.3(HMCN1):c.5301-3T>C
|
|
|
NM_031935.3(HMCN1):c.5318del (p.Gln1773fs)
|
|
|
NM_031935.3(HMCN1):c.5329G>A (p.Glu1777Lys)
|
|
|
NM_031935.3(HMCN1):c.5335G>C (p.Asp1779His)
|
|
|
NM_031935.3(HMCN1):c.5343C>A (p.Phe1781Leu)
|
|
|
NM_031935.3(HMCN1):c.5346G>C (p.Lys1782Asn)
|
|
|
NM_031935.3(HMCN1):c.5346G>T (p.Lys1782Asn)
|
|
|
NM_031935.3(HMCN1):c.5389G>C (p.Val1797Leu)
|
|
|
NM_031935.3(HMCN1):c.5410C>T (p.Arg1804Trp)
|
rs771121234
|
|
NM_031935.3(HMCN1):c.5414G>A (p.Cys1805Tyr)
|
|
|
NM_031935.3(HMCN1):c.5437G>A (p.Asp1813Asn)
|
|
|
NM_031935.3(HMCN1):c.5447A>G (p.Lys1816Arg)
|
|
|
NM_031935.3(HMCN1):c.5462C>A (p.Thr1821Asn)
|
|
|
NM_031935.3(HMCN1):c.5462C>T (p.Thr1821Ile)
|
|
|
NM_031935.3(HMCN1):c.5464G>C (p.Val1822Leu)
|
|
|
NM_031935.3(HMCN1):c.5469T>C (p.His1823=)
|
|
|
NM_031935.3(HMCN1):c.5480C>A (p.Thr1827Lys)
|
|
|
NM_031935.3(HMCN1):c.5504A>G (p.Glu1835Gly)
|
|
|
NM_031935.3(HMCN1):c.5515G>C (p.Val1839Leu)
|
|
|
NM_031935.3(HMCN1):c.5546T>A (p.Ile1849Lys)
|
rs756344375
|
|
NM_031935.3(HMCN1):c.5546T>C (p.Ile1849Thr)
|
|
|
NM_031935.3(HMCN1):c.5552A>G (p.Asn1851Ser)
|
|
|
NM_031935.3(HMCN1):c.5560C>T (p.Pro1854Ser)
|
|
|
NM_031935.3(HMCN1):c.5584A>G (p.Lys1862Glu)
|
|
|
NM_031935.3(HMCN1):c.5605A>G (p.Thr1869Ala)
|
|
|
NM_031935.3(HMCN1):c.5614G>A (p.Gly1872Arg)
|
|
|
NM_031935.3(HMCN1):c.5620_5622del (p.Leu1874del)
|
|
|
NM_031935.3(HMCN1):c.5623A>G (p.Lys1875Glu)
|
|
|
NM_031935.3(HMCN1):c.5632T>A (p.Ser1878Thr)
|
|
|
NM_031935.3(HMCN1):c.5641C>T (p.Arg1881Ter)
|
|
|
NM_031935.3(HMCN1):c.5642G>A (p.Arg1881Gln)
|
|
|
NM_031935.3(HMCN1):c.5685A>T (p.Arg1895Ser)
|
|
|
NM_031935.3(HMCN1):c.5687A>G (p.Tyr1896Cys)
|
|
|
NM_031935.3(HMCN1):c.5716G>C (p.Glu1906Gln)
|
|
|
NM_031935.3(HMCN1):c.5736A>T (p.Gln1912His)
|
|
|
NM_031935.3(HMCN1):c.5750-12G>A
|
|
|
NM_031935.3(HMCN1):c.5750-2A>G
|
|
|
NM_031935.3(HMCN1):c.5755C>T (p.Pro1919Ser)
|
|
|
NM_031935.3(HMCN1):c.5771C>G (p.Ala1924Gly)
|
|
|
NM_031935.3(HMCN1):c.5807A>G (p.Asn1936Ser)
|
|
|
NM_031935.3(HMCN1):c.5808C>A (p.Asn1936Lys)
|
|
|
NM_031935.3(HMCN1):c.5837G>T (p.Gly1946Val)
|
|
|
NM_031935.3(HMCN1):c.5851+5A>C
|
|
|
NM_031935.3(HMCN1):c.5879T>C (p.Leu1960Pro)
|
|
|
NM_031935.3(HMCN1):c.5905T>C (p.Phe1969Leu)
|
|
|
NM_031935.3(HMCN1):c.5927T>C (p.Ile1976Thr)
|
|
|
NM_031935.3(HMCN1):c.5933T>C (p.Ile1978Thr)
|
|
|
NM_031935.3(HMCN1):c.5941G>A (p.Ala1981Thr)
|
|
|
NM_031935.3(HMCN1):c.59T>C (p.Leu20Pro)
|
|
|
NM_031935.3(HMCN1):c.601G>A (p.Asp201Asn)
|
|
|
NM_031935.3(HMCN1):c.6021A>C (p.Gln2007His)
|
|
|
NM_031935.3(HMCN1):c.6022G>T (p.Val2008Phe)
|
|
|
NM_031935.3(HMCN1):c.6029-3C>T
|
|
|
NM_031935.3(HMCN1):c.6029-8T>A
|
|
|
NM_031935.3(HMCN1):c.6032C>A (p.Ala2011Asp)
|
|
|
NM_031935.3(HMCN1):c.6061G>A (p.Val2021Met)
|
|
|
NM_031935.3(HMCN1):c.6082C>T (p.Pro2028Ser)
|
|
|
NM_031935.3(HMCN1):c.6083C>T (p.Pro2028Leu)
|
|
|
NM_031935.3(HMCN1):c.6140A>G (p.Lys2047Arg)
|
rs2102231427
|
|
NM_031935.3(HMCN1):c.6152del (p.Pro2051fs)
|
|
|
NM_031935.3(HMCN1):c.6181G>A (p.Val2061Ile)
|
|
|
NM_031935.3(HMCN1):c.6204A>G (p.Leu2068=)
|
|
|
NM_031935.3(HMCN1):c.6208T>A (p.Leu2070Met)
|
|
|
NM_031935.3(HMCN1):c.621+3C>T
|
|
|
NM_031935.3(HMCN1):c.6220C>A (p.Gln2074Lys)
|
rs200822474
|
|
NM_031935.3(HMCN1):c.6220C>G (p.Gln2074Glu)
|
rs200822474
|
|
NM_031935.3(HMCN1):c.6227G>A (p.Ser2076Asn)
|
|
|
NM_031935.3(HMCN1):c.6229G>A (p.Asp2077Asn)
|
|
|
NM_031935.3(HMCN1):c.6229G>T (p.Asp2077Tyr)
|
|
|
NM_031935.3(HMCN1):c.6250G>A (p.Val2084Met)
|
|
|
NM_031935.3(HMCN1):c.6251T>A (p.Val2084Glu)
|
|
|
NM_031935.3(HMCN1):c.6286A>G (p.Ile2096Val)
|
|
|
NM_031935.3(HMCN1):c.6304+13A>G
|
|
|
NM_031935.3(HMCN1):c.6313A>G (p.Asn2105Asp)
|
|
|
NM_031935.3(HMCN1):c.6316A>G (p.Ile2106Val)
|
|
|
NM_031935.3(HMCN1):c.6325GAA[1] (p.Glu2110del)
|
|
|
NM_031935.3(HMCN1):c.6335A>G (p.Asn2112Ser)
|
rs1656519065
|
|
NM_031935.3(HMCN1):c.6349A>C (p.Ile2117Leu)
|
|
|
NM_031935.3(HMCN1):c.6361G>A (p.Val2121Met)
|
|
|
NM_031935.3(HMCN1):c.6370C>A (p.Leu2124Ile)
|
|
|
NM_031935.3(HMCN1):c.6377A>C (p.Gln2126Pro)
|
|
|
NM_031935.3(HMCN1):c.6380G>A (p.Ser2127Asn)
|
|
|
NM_031935.3(HMCN1):c.6386C>T (p.Ala2129Val)
|
|
|
NM_031935.3(HMCN1):c.6422G>C (p.Gly2141Ala)
|
|
|
NM_031935.3(HMCN1):c.6448C>T (p.Leu2150Phe)
|
|
|
NM_031935.3(HMCN1):c.6454A>G (p.Ile2152Val)
|
|
|
NM_031935.3(HMCN1):c.6470G>T (p.Ser2157Ile)
|
|
|
NM_031935.3(HMCN1):c.647_652del (p.Val216_Gln217del)
|
|
|
NM_031935.3(HMCN1):c.6500A>G (p.Gln2167Arg)
|
rs2102263582
|
|
NM_031935.3(HMCN1):c.6512G>A (p.Arg2171His)
|
|
|
NM_031935.3(HMCN1):c.6526G>A (p.Ala2176Thr)
|
|
|
NM_031935.3(HMCN1):c.6553A>G (p.Lys2185Glu)
|
|
|
NM_031935.3(HMCN1):c.6554A>G (p.Lys2185Arg)
|
|
|
NM_031935.3(HMCN1):c.6568A>G (p.Asn2190Asp)
|
|
|
NM_031935.3(HMCN1):c.6574T>C (p.Trp2192Arg)
|
|
|
NM_031935.3(HMCN1):c.6578T>C (p.Val2193Ala)
|
|
|
NM_031935.3(HMCN1):c.6581C>T (p.Pro2194Leu)
|
|
|
NM_031935.3(HMCN1):c.6604G>T (p.Glu2202Ter)
|
|
|
NM_031935.3(HMCN1):c.6607C>T (p.Leu2203Phe)
|
rs1397176102
|
|
NM_031935.3(HMCN1):c.6611C>T (p.Thr2204Ile)
|
|
|
NM_031935.3(HMCN1):c.6623T>A (p.Val2208Asp)
|
|
|
NM_031935.3(HMCN1):c.6679A>G (p.Asn2227Asp)
|
|
|
NM_031935.3(HMCN1):c.667C>A (p.Leu223Ile)
|
|
|
NM_031935.3(HMCN1):c.6682C>T (p.Leu2228Phe)
|
|
|
NM_031935.3(HMCN1):c.6701-17T>G
|
|
|
NM_031935.3(HMCN1):c.6704C>T (p.Ser2235Phe)
|
|
|
NM_031935.3(HMCN1):c.6727G>A (p.Gly2243Arg)
|
|
|
NM_031935.3(HMCN1):c.6727G>C (p.Gly2243Arg)
|
|
|
NM_031935.3(HMCN1):c.6730C>T (p.Arg2244Ter)
|
|
|
NM_031935.3(HMCN1):c.6733G>A (p.Val2245Ile)
|
|
|
NM_031935.3(HMCN1):c.6751G>A (p.Gly2251Ser)
|
|
|
NM_031935.3(HMCN1):c.6799T>C (p.Tyr2267His)
|
|
|
NM_031935.3(HMCN1):c.6812C>T (p.Ala2271Val)
|
|
|
NM_031935.3(HMCN1):c.6850C>G (p.Leu2284Val)
|
|
|
NM_031935.3(HMCN1):c.6863-6C>A
|
|
|
NM_031935.3(HMCN1):c.6874A>G (p.Ile2292Val)
|
|
|
NM_031935.3(HMCN1):c.6887G>T (p.Gly2296Val)
|
|
|
NM_031935.3(HMCN1):c.688G>T (p.Glu230Ter)
|
|
|
NM_031935.3(HMCN1):c.6893A>G (p.His2298Arg)
|
|
|
NM_031935.3(HMCN1):c.6924G>C (p.Lys2308Asn)
|
|
|
NM_031935.3(HMCN1):c.694G>A (p.Ala232Thr)
|
|
|
NM_031935.3(HMCN1):c.6967A>T (p.Thr2323Ser)
|
rs1571788821
|
|
NM_031935.3(HMCN1):c.697G>A (p.Val233Ile)
|
|
|
NM_031935.3(HMCN1):c.697G>C (p.Val233Leu)
|
rs540097337
|
|
NM_031935.3(HMCN1):c.6986A>T (p.Asp2329Val)
|
|
|
NM_031935.3(HMCN1):c.6993C>A (p.His2331Gln)
|
|
|
NM_031935.3(HMCN1):c.6995C>G (p.Pro2332Arg)
|
|
|
NM_031935.3(HMCN1):c.7004A>G (p.Lys2335Arg)
|
|
|
NM_031935.3(HMCN1):c.7040T>A (p.Ile2347Asn)
|
|
|
NM_031935.3(HMCN1):c.7042C>T (p.Leu2348Phe)
|
|
|
NM_031935.3(HMCN1):c.706T>C (p.Trp236Arg)
|
rs2102450858
|
|
NM_031935.3(HMCN1):c.708G>C (p.Trp236Cys)
|
|
|
NM_031935.3(HMCN1):c.709_710inv (p.Arg237Leu)
|
|
|
NM_031935.3(HMCN1):c.7109G>A (p.Gly2370Glu)
|
|
|
NM_031935.3(HMCN1):c.7126T>C (p.Tyr2376His)
|
|
|
NM_031935.3(HMCN1):c.7141C>T (p.His2381Tyr)
|
|
|
NM_031935.3(HMCN1):c.7144+5G>A
|
|
|
NM_031935.3(HMCN1):c.7178C>T (p.Pro2393Leu)
|
|
|
NM_031935.3(HMCN1):c.7187T>C (p.Ile2396Thr)
|
|
|
NM_031935.3(HMCN1):c.7192G>A (p.Val2398Met)
|
|
|
NM_031935.3(HMCN1):c.720T>G (p.Phe240Leu)
|
|
|
NM_031935.3(HMCN1):c.7210G>C (p.Val2404Leu)
|
|
|
NM_031935.3(HMCN1):c.7255A>G (p.Thr2419Ala)
|
rs776278874
|
|
NM_031935.3(HMCN1):c.7255A>T (p.Thr2419Ser)
|
|
|
NM_031935.3(HMCN1):c.7301G>C (p.Arg2434Thr)
|
|
|
NM_031935.3(HMCN1):c.7311A>G (p.Ser2437=)
|
|
|
NM_031935.3(HMCN1):c.7328G>A (p.Arg2443Gln)
|
|
|
NM_031935.3(HMCN1):c.7333A>T (p.Met2445Leu)
|
rs1303616081
|
|
NM_031935.3(HMCN1):c.7347G>T (p.Met2449Ile)
|
|
|
NM_031935.3(HMCN1):c.7360C>A (p.Gln2454Lys)
|
|
|
NM_031935.3(HMCN1):c.7372G>A (p.Val2458Ile)
|
|
|
NM_031935.3(HMCN1):c.7397A>G (p.Glu2466Gly)
|
|
|
NM_031935.3(HMCN1):c.7406T>C (p.Ile2469Thr)
|
|
|
NM_031935.3(HMCN1):c.7407C>G (p.Ile2469Met)
|
|
|
NM_031935.3(HMCN1):c.7423T>G (p.Leu2475Val)
|
|
|
NM_031935.3(HMCN1):c.7426+5T>C
|
|
|
NM_031935.3(HMCN1):c.7427-6T>G
|
|
|
NM_031935.3(HMCN1):c.7429C>T (p.Pro2477Ser)
|
|
|
NM_031935.3(HMCN1):c.7437T>A (p.His2479Gln)
|
|
|
NM_031935.3(HMCN1):c.7439T>C (p.Ile2480Thr)
|
|
|
NM_031935.3(HMCN1):c.7444G>C (p.Gly2482Arg)
|
|
|
NM_031935.3(HMCN1):c.7451dup (p.Asn2484fs)
|
rs745754104
|
|
NM_031935.3(HMCN1):c.7486_7487del (p.Ser2496fs)
|
|
|
NM_031935.3(HMCN1):c.7488T>G (p.Ser2496Arg)
|
|
|
NM_031935.3(HMCN1):c.7493C>T (p.Thr2498Met)
|
|
|
NM_031935.3(HMCN1):c.7513+6G>A
|
|
|
NM_031935.3(HMCN1):c.7546_7547delinsAT (p.Asp2516Ile)
|
rs2102325370
|
|
NM_031935.3(HMCN1):c.7555C>G (p.Pro2519Ala)
|
|
|
NM_031935.3(HMCN1):c.7558C>T (p.Leu2520Phe)
|
|
|
NM_031935.3(HMCN1):c.7562A>G (p.Gln2521Arg)
|
|
|
NM_031935.3(HMCN1):c.7585A>G (p.Ile2529Val)
|
|
|
NM_031935.3(HMCN1):c.7585A>T (p.Ile2529Leu)
|
|
|
NM_031935.3(HMCN1):c.7612A>T (p.Thr2538Ser)
|
|
|
NM_031935.3(HMCN1):c.7617T>A (p.Asn2539Lys)
|
|
|
NM_031935.3(HMCN1):c.7625_7626del (p.Val2542fs)
|
|
|
NM_031935.3(HMCN1):c.7645A>T (p.Thr2549Ser)
|
|
|
NM_031935.3(HMCN1):c.7685G>A (p.Ser2562Asn)
|
|
|
NM_031935.3(HMCN1):c.7690A>G (p.Ser2564Gly)
|
|
|
NM_031935.3(HMCN1):c.7699G>A (p.Val2567Ile)
|
|
|
NM_031935.3(HMCN1):c.76C>T (p.Pro26Ser)
|
|
|
NM_031935.3(HMCN1):c.7700T>G (p.Val2567Gly)
|
|
|
NM_031935.3(HMCN1):c.7705+2T>G
|
rs2102326135
|
|
NM_031935.3(HMCN1):c.7711C>G (p.Pro2571Ala)
|
rs2102333727
|
|
NM_031935.3(HMCN1):c.771G>T (p.Met257Ile)
|
|
|
NM_031935.3(HMCN1):c.7730G>T (p.Gly2577Val)
|
|
|
NM_031935.3(HMCN1):c.7733G>A (p.Ser2578Asn)
|
|
|
NM_031935.3(HMCN1):c.7738G>A (p.Gly2580Ser)
|
|
|
NM_031935.3(HMCN1):c.7773C>G (p.Ser2591Arg)
|
|
|
NM_031935.3(HMCN1):c.7775C>T (p.Pro2592Leu)
|
|
|
NM_031935.3(HMCN1):c.7780T>C (p.Ser2594Pro)
|
|
|
NM_031935.3(HMCN1):c.7810C>G (p.Pro2604Ala)
|
|
|
NM_031935.3(HMCN1):c.7816A>G (p.Thr2606Ala)
|
|
|
NM_031935.3(HMCN1):c.781C>T (p.Arg261Cys)
|
|
|
NM_031935.3(HMCN1):c.782G>T (p.Arg261Leu)
|
|
|
NM_031935.3(HMCN1):c.7853C>A (p.Ser2618Tyr)
|
|
|
NM_031935.3(HMCN1):c.7857C>A (p.Asn2619Lys)
|
|
|
NM_031935.3(HMCN1):c.7867C>A (p.Arg2623Ser)
|
rs564245563
|
|
NM_031935.3(HMCN1):c.7868G>A (p.Arg2623His)
|
|
|
NM_031935.3(HMCN1):c.7873C>A (p.Leu2625Ile)
|
|
|
NM_031935.3(HMCN1):c.7879+19A>G
|
|
|
NM_031935.3(HMCN1):c.787C>G (p.Pro263Ala)
|
|
|
NM_031935.3(HMCN1):c.7903A>G (p.Asn2635Asp)
|
|
|
NM_031935.3(HMCN1):c.7910A>G (p.Gln2637Arg)
|
|
|
NM_031935.3(HMCN1):c.7910A>T (p.Gln2637Leu)
|
rs760728428
|
|
NM_031935.3(HMCN1):c.793+3G>A
|
rs752950964
|
|
NM_031935.3(HMCN1):c.7937G>A (p.Cys2646Tyr)
|
|
|
NM_031935.3(HMCN1):c.7946C>T (p.Thr2649Met)
|
|
|
NM_031935.3(HMCN1):c.7999C>T (p.Pro2667Ser)
|
|
|
NM_031935.3(HMCN1):c.79C>G (p.Gln27Glu)
|
|
|
NM_031935.3(HMCN1):c.8008A>G (p.Asn2670Asp)
|
|
|
NM_031935.3(HMCN1):c.8017G>T (p.Asp2673Tyr)
|
|
|
NM_031935.3(HMCN1):c.8029C>T (p.Pro2677Ser)
|
|
|
NM_031935.3(HMCN1):c.804A>G (p.Ile268Met)
|
|
|
NM_031935.3(HMCN1):c.8093C>T (p.Ala2698Val)
|
|
|
NM_031935.3(HMCN1):c.8095T>A (p.Tyr2699Asn)
|
|
|
NM_031935.3(HMCN1):c.8098G>A (p.Ala2700Thr)
|
|
|
NM_031935.3(HMCN1):c.8119A>G (p.Ser2707Gly)
|
|
|
NM_031935.3(HMCN1):c.811G>A (p.Gly271Arg)
|
|
|
NM_031935.3(HMCN1):c.8126A>T (p.Tyr2709Phe)
|
rs2102343287
|
|
NM_031935.3(HMCN1):c.8139+4A>G
|
|
|
NM_031935.3(HMCN1):c.8140C>A (p.Pro2714Thr)
|
|
|
NM_031935.3(HMCN1):c.8140C>G (p.Pro2714Ala)
|
|
|
NM_031935.3(HMCN1):c.814T>G (p.Phe272Val)
|
|
|
NM_031935.3(HMCN1):c.8180G>A (p.Gly2727Glu)
|
|
|
NM_031935.3(HMCN1):c.8188C>T (p.Leu2730Phe)
|
|
|
NM_031935.3(HMCN1):c.8204C>G (p.Ala2735Gly)
|
|
|
NM_031935.3(HMCN1):c.8218A>T (p.Thr2740Ser)
|
|
|
NM_031935.3(HMCN1):c.8221G>A (p.Gly2741Arg)
|
|
|
NM_031935.3(HMCN1):c.8227T>C (p.Tyr2743His)
|
|
|
NM_031935.3(HMCN1):c.8239G>A (p.Ala2747Thr)
|
|
|
NM_031935.3(HMCN1):c.8290+1G>A
|
|
|
NM_031935.3(HMCN1):c.8291-10T>G
|
|
|
NM_031935.3(HMCN1):c.8300G>A (p.Ser2767Asn)
|
|
|
NM_031935.3(HMCN1):c.8324G>A (p.Gly2775Glu)
|
|
|
NM_031935.3(HMCN1):c.8329A>G (p.Met2777Val)
|
|
|
NM_031935.3(HMCN1):c.8335G>C (p.Asp2779His)
|
|
|
NM_031935.3(HMCN1):c.8342G>A (p.Gly2781Asp)
|
|
|
NM_031935.3(HMCN1):c.835A>G (p.Asn279Asp)
|
|
|
NM_031935.3(HMCN1):c.8362G>A (p.Asp2788Asn)
|
|
|
NM_031935.3(HMCN1):c.838A>G (p.Ile280Val)
|
|
|
NM_031935.3(HMCN1):c.8410G>A (p.Ala2804Thr)
|
|
|
NM_031935.3(HMCN1):c.8414C>G (p.Pro2805Arg)
|
|
|
NM_031935.3(HMCN1):c.8423C>T (p.Thr2808Ile)
|
|
|
NM_031935.3(HMCN1):c.8429C>T (p.Thr2810Ile)
|
|
|
NM_031935.3(HMCN1):c.8448C>G (p.His2816Gln)
|
|
|
NM_031935.3(HMCN1):c.8462G>T (p.Ser2821Ile)
|
|
|
NM_031935.3(HMCN1):c.8464_8471del (p.Asp2822fs)
|
|
|
NM_031935.3(HMCN1):c.8470G>A (p.Val2824Ile)
|
rs2102362166
|
|
NM_031935.3(HMCN1):c.8483C>G (p.Pro2828Arg)
|
|
|
NM_031935.3(HMCN1):c.8492G>A (p.Arg2831Gln)
|
|
|
NM_031935.3(HMCN1):c.8501A>G (p.Gln2834Arg)
|
|
|
NM_031935.3(HMCN1):c.850G>A (p.Ala284Thr)
|
|
|
NM_031935.3(HMCN1):c.8536T>C (p.Tyr2846His)
|
|
|
NM_031935.3(HMCN1):c.8543G>A (p.Cys2848Tyr)
|
rs2102367466
|
|
NM_031935.3(HMCN1):c.8548G>T (p.Ala2850Ser)
|
|
|
NM_031935.3(HMCN1):c.8549C>T (p.Ala2850Val)
|
|
|
NM_031935.3(HMCN1):c.8551G>T (p.Val2851Leu)
|
|
|
NM_031935.3(HMCN1):c.8559G>T (p.Glu2853Asp)
|
|
|
NM_031935.3(HMCN1):c.8579A>G (p.Gln2860Arg)
|
|
|
NM_031935.3(HMCN1):c.8581T>C (p.Tyr2861His)
|
|
|
NM_031935.3(HMCN1):c.8582A>G (p.Tyr2861Cys)
|
rs2102367665
|
|
NM_031935.3(HMCN1):c.8585A>G (p.Asp2862Gly)
|
|
|
NM_031935.3(HMCN1):c.8598C>T (p.Leu2866=)
|
|
|
NM_031935.3(HMCN1):c.8599+6T>C
|
|
|
NM_031935.3(HMCN1):c.8599G>C (p.Val2867Leu)
|
rs772584982
|
|
NM_031935.3(HMCN1):c.8613C>G (p.Ile2871Met)
|
|
|
NM_031935.3(HMCN1):c.8621C>A (p.Ala2874Glu)
|
|
|
NM_031935.3(HMCN1):c.8629G>A (p.Asp2877Asn)
|
|
|
NM_031935.3(HMCN1):c.8635C>T (p.Pro2879Ser)
|
|
|
NM_031935.3(HMCN1):c.8662A>G (p.Lys2888Glu)
|
|
|
NM_031935.3(HMCN1):c.8669C>A (p.Ala2890Glu)
|
|
|
NM_031935.3(HMCN1):c.8714C>T (p.Ser2905Phe)
|
|
|
NM_031935.3(HMCN1):c.8735C>T (p.Pro2912Leu)
|
|
|
NM_031935.3(HMCN1):c.8749G>A (p.Asp2917Asn)
|
|
|
NM_031935.3(HMCN1):c.874C>A (p.Pro292Thr)
|
|
|
NM_031935.3(HMCN1):c.8750A>G (p.Asp2917Gly)
|
|
|
NM_031935.3(HMCN1):c.8779A>T (p.Ile2927Phe)
|
|
|
NM_031935.3(HMCN1):c.8785C>G (p.Gln2929Glu)
|
|
|
NM_031935.3(HMCN1):c.8787+3A>G
|
|
|
NM_031935.3(HMCN1):c.8787G>C (p.Gln2929His)
|
|
|
NM_031935.3(HMCN1):c.878A>C (p.Glu293Ala)
|
rs2102455477
|
|
NM_031935.3(HMCN1):c.8812A>G (p.Ile2938Val)
|
|
|
NM_031935.3(HMCN1):c.8813T>A (p.Ile2938Asn)
|
|
|
NM_031935.3(HMCN1):c.8816G>A (p.Gly2939Asp)
|
|
|
NM_031935.3(HMCN1):c.8820G>A (p.Arg2940=)
|
|
|
NM_031935.3(HMCN1):c.8822A>G (p.Tyr2941Cys)
|
|
|
NM_031935.3(HMCN1):c.8828G>A (p.Cys2943Tyr)
|
|
|
NM_031935.3(HMCN1):c.8833G>A (p.Ala2945Thr)
|
|
|
NM_031935.3(HMCN1):c.8842A>G (p.Thr2948Ala)
|
|
|
NM_031935.3(HMCN1):c.8843C>T (p.Thr2948Ile)
|
|
|
NM_031935.3(HMCN1):c.8848G>C (p.Gly2950Arg)
|
|
|
NM_031935.3(HMCN1):c.8872C>T (p.Leu2958Phe)
|
|
|
NM_031935.3(HMCN1):c.8875A>C (p.Asn2959His)
|
|
|
NM_031935.3(HMCN1):c.8876A>G (p.Asn2959Ser)
|
|
|
NM_031935.3(HMCN1):c.8887C>A (p.Pro2963Thr)
|
|
|
NM_031935.3(HMCN1):c.8901_8919del (p.Gly2968fs)
|
|
|
NM_031935.3(HMCN1):c.8905C>T (p.Pro2969Ser)
|
|
|
NM_031935.3(HMCN1):c.8924C>T (p.Thr2975Ile)
|
|
|
NM_031935.3(HMCN1):c.8926G>A (p.Val2976Ile)
|
|
|
NM_031935.3(HMCN1):c.8939A>G (p.Asn2980Ser)
|
|
|
NM_031935.3(HMCN1):c.8959G>A (p.Glu2987Lys)
|
|
|
NM_031935.3(HMCN1):c.89T>A (p.Ile30Asn)
|
|
|
NM_031935.3(HMCN1):c.8C>A (p.Ser3Tyr)
|
|
|
NM_031935.3(HMCN1):c.9016A>G (p.Lys3006Glu)
|
|
|
NM_031935.3(HMCN1):c.9020T>A (p.Leu3007Gln)
|
|
|
NM_031935.3(HMCN1):c.9034C>A (p.Leu3012Ile)
|
rs267598234
|
|
NM_031935.3(HMCN1):c.9035T>C (p.Leu3012Pro)
|
|
|
NM_031935.3(HMCN1):c.9043C>T (p.Pro3015Ser)
|
|
|
NM_031935.3(HMCN1):c.9046+5G>A
|
|
|
NM_031935.3(HMCN1):c.9049G>C (p.Gly3017Arg)
|
|
|
NM_031935.3(HMCN1):c.9055A>C (p.Thr3019Pro)
|
|
|
NM_031935.3(HMCN1):c.9070C>T (p.Arg3024Trp)
|
|
|
NM_031935.3(HMCN1):c.9089G>A (p.Gly3030Asp)
|
|
|
NM_031935.3(HMCN1):c.9095A>C (p.Glu3032Ala)
|
|
|
NM_031935.3(HMCN1):c.9101C>T (p.Thr3034Ile)
|
|
|
NM_031935.3(HMCN1):c.9113T>A (p.Ile3038Asn)
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NM_031935.3(HMCN1):c.9131G>A (p.Ser3044Asn)
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NM_031935.3(HMCN1):c.9142T>C (p.Phe3048Leu)
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NM_031935.3(HMCN1):c.9160+4C>T
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NM_031935.3(HMCN1):c.9180C>A (p.Asp3060Glu)
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NM_031935.3(HMCN1):c.9193T>C (p.Ser3065Pro)
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NM_031935.3(HMCN1):c.9223A>C (p.Thr3075Pro)
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rs752694815
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NM_031935.3(HMCN1):c.9224C>T (p.Thr3075Ile)
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NM_031935.3(HMCN1):c.9253G>A (p.Ala3085Thr)
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rs377710966
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NM_031935.3(HMCN1):c.9263C>G (p.Pro3088Arg)
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NM_031935.3(HMCN1):c.9281A>G (p.Tyr3094Cys)
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NM_031935.3(HMCN1):c.9286A>G (p.Asn3096Asp)
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NM_031935.3(HMCN1):c.9287A>C (p.Asn3096Thr)
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NM_031935.3(HMCN1):c.928C>T (p.Arg310Cys)
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NM_031935.3(HMCN1):c.9292C>T (p.Arg3098Trp)
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rs1002862471
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NM_031935.3(HMCN1):c.929G>A (p.Arg310His)
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NM_031935.3(HMCN1):c.929G>T (p.Arg310Leu)
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NM_031935.3(HMCN1):c.9302C>A (p.Thr3101Lys)
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NM_031935.3(HMCN1):c.9314A>G (p.His3105Arg)
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rs371120895
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NM_031935.3(HMCN1):c.9321G>T (p.Glu3107Asp)
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NM_031935.3(HMCN1):c.9329C>G (p.Ala3110Gly)
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NM_031935.3(HMCN1):c.9340A>T (p.Met3114Leu)
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NM_031935.3(HMCN1):c.9341T>G (p.Met3114Arg)
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NM_031935.3(HMCN1):c.9377G>T (p.Gly3126Val)
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NM_031935.3(HMCN1):c.9385G>A (p.Val3129Ile)
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rs2102403123
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NM_031935.3(HMCN1):c.9404T>C (p.Val3135Ala)
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NM_031935.3(HMCN1):c.940C>T (p.Leu314Phe)
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NM_031935.3(HMCN1):c.9412C>T (p.Arg3138Trp)
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NM_031935.3(HMCN1):c.9413G>A (p.Arg3138Gln)
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NM_031935.3(HMCN1):c.9419A>G (p.Asp3140Gly)
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NM_031935.3(HMCN1):c.9433C>T (p.Leu3145Phe)
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rs192222844
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NM_031935.3(HMCN1):c.9437A>G (p.Asn3146Ser)
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NM_031935.3(HMCN1):c.9445+3G>A
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NM_031935.3(HMCN1):c.9455G>C (p.Ser3152Thr)
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NM_031935.3(HMCN1):c.9462A>T (p.Glu3154Asp)
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NM_031935.3(HMCN1):c.9475G>A (p.Glu3159Lys)
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NM_031935.3(HMCN1):c.9491C>A (p.Thr3164Lys)
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NM_031935.3(HMCN1):c.9491C>T (p.Thr3164Met)
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NM_031935.3(HMCN1):c.9503C>T (p.Pro3168Leu)
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NM_031935.3(HMCN1):c.9538C>T (p.Pro3180Ser)
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NM_031935.3(HMCN1):c.9545C>T (p.Thr3182Met)
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NM_031935.3(HMCN1):c.9571C>T (p.Arg3191Cys)
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NM_031935.3(HMCN1):c.9572G>A (p.Arg3191His)
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NM_031935.3(HMCN1):c.9572G>T (p.Arg3191Leu)
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NM_031935.3(HMCN1):c.9576A>C (p.Ile3192=)
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NM_031935.3(HMCN1):c.9597A>T (p.Glu3199Asp)
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NM_031935.3(HMCN1):c.9604A>G (p.Ile3202Val)
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NM_031935.3(HMCN1):c.9609G>T (p.Leu3203Phe)
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rs2102405405
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NM_031935.3(HMCN1):c.9613G>A (p.Gly3205Arg)
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NM_031935.3(HMCN1):c.9638G>A (p.Arg3213Gln)
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NM_031935.3(HMCN1):c.9727+1G>T
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NM_031935.3(HMCN1):c.9730C>T (p.Pro3244Ser)
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NM_031935.3(HMCN1):c.9745G>C (p.Gly3249Arg)
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NM_031935.3(HMCN1):c.9771T>G (p.Ser3257Arg)
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NM_031935.3(HMCN1):c.9800T>C (p.Val3267Ala)
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NM_031935.3(HMCN1):c.9803G>A (p.Cys3268Tyr)
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NM_031935.3(HMCN1):c.9807T>A (p.Asn3269Lys)
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NM_031935.3(HMCN1):c.9839G>A (p.Trp3280Ter)
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NM_031935.3(HMCN1):c.9916A>G (p.Ile3306Val)
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NM_031935.3(HMCN1):c.9928C>G (p.Leu3310Val)
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NM_031935.3(HMCN1):c.992T>C (p.Phe331Ser)
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NM_031935.3(HMCN1):c.9935C>A (p.Ser3312Tyr)
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NM_031935.3(HMCN1):c.9949T>C (p.Tyr3317His)
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NM_031935.3(HMCN1):c.9970C>T (p.Pro3324Ser)
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