NM_001379081.2(FREM1):c.829-177A>G
|
rs903312
|
0.98167
|
NM_001379081.2(FREM1):c.5334+45T>C
|
rs7045154
|
0.97488
|
NM_001379081.2(FREM1):c.4791T>C (p.Asp1597=)
|
rs1032474
|
0.85601
|
NM_001379081.2(FREM1):c.1153-121T>C
|
rs1021493
|
0.83976
|
NM_001379081.2(FREM1):c.1262-33G>C
|
rs2642404
|
0.83411
|
NM_001379081.2(FREM1):c.1153-144A>T
|
rs1021494
|
0.78022
|
NM_001379081.2(FREM1):c.6341-23T>C
|
rs10961690
|
0.74382
|
NM_001379081.2(FREM1):c.6428A>C (p.Gln2143Pro)
|
rs10961689
|
0.74114
|
NM_001379081.2(FREM1):c.6341-150G>T
|
rs10511596
|
0.74082
|
NM_001379081.2(FREM1):c.829-12A>G
|
rs2818940
|
0.72914
|
NM_001379081.2(FREM1):c.829-98C>T
|
rs729492
|
0.64369
|
NM_001379081.2(FREM1):c.2079-173T>C
|
rs1332805
|
0.59072
|
NM_001379081.2(FREM1):c.1315G>C (p.Val439Leu)
|
rs2779500
|
0.56393
|
NM_001379081.2(FREM1):c.6255-68T>C
|
rs2270528
|
0.55624
|
NM_001379081.2(FREM1):c.234+89T>A
|
rs7856810
|
0.52414
|
NM_001379081.2(FREM1):c.4785C>T (p.Ala1595=)
|
rs10733289
|
0.50486
|
NM_001379081.2(FREM1):c.5335-39T>C
|
rs10810233
|
0.43237
|
NM_001379081.2(FREM1):c.5004C>A (p.Ile1668=)
|
rs17219005
|
0.34768
|
NM_001379081.2(FREM1):c.6009+105T>G
|
rs2270530
|
0.33860
|
NM_001379081.2(FREM1):c.6010-84A>G
|
rs2270529
|
0.33173
|
NM_001379081.2(FREM1):c.4178-146A>C
|
rs10810240
|
0.32793
|
NM_001379081.2(FREM1):c.4857+58T>C
|
rs1973389
|
0.32206
|
NM_001379081.2(FREM1):c.5059+23C>T
|
rs1874109
|
0.30525
|
NM_001379081.2(FREM1):c.4178-33T>C
|
rs10810239
|
0.28226
|
NM_001379081.2(FREM1):c.3634G>T (p.Ala1212Ser)
|
rs35870000
|
0.27977
|
NM_001379081.2(FREM1):c.4442+117A>G
|
rs10435762
|
0.22699
|
NM_001379081.2(FREM1):c.2894-193G>A
|
rs10810251
|
0.21917
|
NM_001379081.2(FREM1):c.2547-173G>A
|
rs12376167
|
0.21116
|
NM_001379081.2(FREM1):c.1882-152C>T
|
rs13289400
|
0.21022
|
NM_001379081.2(FREM1):c.4857+8T>C
|
rs1874108
|
0.19884
|
NM_001379081.2(FREM1):c.2408C>A (p.Ser803Tyr)
|
rs7023244
|
0.19696
|
NM_001379081.2(FREM1):c.3089-4G>T
|
rs10810249
|
0.18577
|
NM_001379081.2(FREM1):c.456A>G (p.Gln152=)
|
rs10961757
|
0.17917
|
NM_001379081.2(FREM1):c.3657A>G (p.Ala1219=)
|
rs10738380
|
0.17766
|
NM_001379081.2(FREM1):c.3606C>G (p.Ser1202Arg)
|
rs16932300
|
0.15197
|
NM_001379081.2(FREM1):c.4617G>A (p.Ala1539=)
|
rs2131880
|
0.14595
|
NM_001379081.2(FREM1):c.5859T>C (p.Val1953=)
|
rs4741426
|
0.14468
|
NM_001379081.2(FREM1):c.2073C>T (p.Ser691=)
|
rs12236053
|
0.13982
|
NM_001379081.2(FREM1):c.4858-21A>G
|
rs7860370
|
0.13363
|
NM_001379081.2(FREM1):c.2587C>G (p.Leu863Val)
|
rs7041710
|
0.12780
|
NM_001379081.2(FREM1):c.5059+82C>T
|
rs17218977
|
0.11848
|
NM_001379081.2(FREM1):c.4177+31A>G
|
rs16932282
|
0.11735
|
NM_001379081.2(FREM1):c.4504G>A (p.Val1502Met)
|
rs10961700
|
0.11621
|
NM_001379081.2(FREM1):c.6138+75C>T
|
rs17290109
|
0.10747
|
NM_001379081.2(FREM1):c.3089-58C>T
|
rs12683064
|
0.09500
|
NM_001379081.2(FREM1):c.639A>G (p.Arg213=)
|
rs950739
|
0.09339
|
NM_001379081.2(FREM1):c.1739-46T>C
|
rs10511598
|
0.08631
|
NM_001379081.2(FREM1):c.1495A>G (p.Ile499Val)
|
rs1353223
|
0.08593
|
NM_001379081.2(FREM1):c.1394-227T>C
|
rs80194188
|
0.08577
|
NM_001379081.2(FREM1):c.1738+47A>G
|
rs41305315
|
0.08166
|
NM_001379081.2(FREM1):c.828+33G>C
|
rs950738
|
0.07986
|
NM_001379081.2(FREM1):c.6254+90A>C
|
rs4124592
|
0.06608
|
NM_001379081.2(FREM1):c.3471+11T>C
|
rs72614223
|
0.06395
|
NM_001379081.2(FREM1):c.4442+163A>G
|
rs41265302
|
0.06344
|
NM_001379081.2(FREM1):c.4442+56G>A
|
rs41265304
|
0.06340
|
NM_001379081.2(FREM1):c.4421C>T (p.Thr1474Ile)
|
rs41265306
|
0.06329
|
NM_001379081.2(FREM1):c.3819T>A (p.Asp1273Glu)
|
rs7025814
|
0.06135
|
NM_001379081.2(FREM1):c.-204T>G
|
rs7860346
|
0.05324
|
NM_001379081.2(FREM1):c.-9C>G
|
rs76002580
|
0.05065
|
NM_001379081.2(FREM1):c.2169+109A>G
|
rs7861952
|
0.04322
|
NM_001379081.2(FREM1):c.2277T>C (p.Gly759=)
|
rs16932323
|
0.03898
|
NM_001379081.2(FREM1):c.2170-82A>G
|
rs75561279
|
0.03825
|
NM_001379081.2(FREM1):c.*148A>G
|
rs11999446
|
0.03677
|
NM_001379081.2(FREM1):c.2104A>G (p.Met702Val)
|
rs7864984
|
0.03461
|
NM_001379081.2(FREM1):c.2170-99G>A
|
rs112853123
|
0.03400
|
NM_001379081.2(FREM1):c.2640+91A>C
|
rs7854676
|
0.03193
|
NM_001379081.2(FREM1):c.3472-220G>T
|
rs41314221
|
0.03019
|
NM_001379081.2(FREM1):c.273T>C (p.Tyr91=)
|
rs61740262
|
0.02932
|
NM_001379081.2(FREM1):c.1262-61T>C
|
rs12345622
|
0.02731
|
NM_001379081.2(FREM1):c.3048G>A (p.Thr1016=)
|
rs61732546
|
0.02603
|
NM_001379081.2(FREM1):c.840G>A (p.Ala280=)
|
rs41313784
|
0.02530
|
NM_001379081.2(FREM1):c.2640+64A>G
|
rs116216987
|
0.02337
|
NM_001379081.2(FREM1):c.5796+226T>C
|
rs77463824
|
0.02276
|
NM_001379081.2(FREM1):c.5205-41A>G
|
rs78519283
|
0.02176
|
NM_001379081.2(FREM1):c.3839+196C>T
|
rs7025870
|
0.02045
|
NM_001379081.2(FREM1):c.6340+86T>C
|
rs16932241
|
0.01886
|
NM_001379081.2(FREM1):c.6255-4T>G
|
rs75897613
|
0.01885
|
NM_001379081.2(FREM1):c.6255-124A>T
|
rs75255636
|
0.01878
|
NM_001379081.2(FREM1):c.6255-119_6255-118insC
|
rs200016257
|
0.01876
|
NM_001379081.2(FREM1):c.3708G>A (p.Thr1236=)
|
rs61747541
|
0.01749
|
NM_001379081.2(FREM1):c.234+204T>C
|
rs77972546
|
0.01673
|
NM_001379081.2(FREM1):c.1512C>T (p.His504=)
|
rs61735720
|
0.01644
|
NM_001379081.2(FREM1):c.4466G>A (p.Arg1489Gln)
|
rs61732355
|
0.01493
|
NM_001379081.2(FREM1):c.2358A>G (p.Lys786=)
|
rs61745880
|
0.01483
|
NM_001379081.2(FREM1):c.5814T>A (p.Val1938=)
|
rs114909107
|
0.01236
|
NM_001379081.2(FREM1):c.3472-20T>C
|
rs77508679
|
0.01216
|
NM_001379081.2(FREM1):c.1791T>C (p.Tyr597=)
|
rs115032700
|
0.01114
|
NM_001379081.2(FREM1):c.1047G>A (p.Leu349=)
|
rs115701214
|
0.00859
|
NM_001379081.2(FREM1):c.4727A>T (p.Asn1576Ile)
|
rs2101770
|
0.00620
|
NM_001379081.2(FREM1):c.5466T>C (p.Asp1822=)
|
rs61741992
|
0.00569
|
NM_001379081.2(FREM1):c.5407+45T>G
|
rs78753998
|
0.00567
|
NM_001379081.2(FREM1):c.3575G>A (p.Arg1192His)
|
rs79023327
|
0.00551
|
NM_001379081.2(FREM1):c.45G>T (p.Leu15=)
|
rs61747529
|
0.00547
|
NM_001379081.2(FREM1):c.3478G>A (p.Glu1160Lys)
|
rs145337987
|
0.00502
|
NM_001379081.2(FREM1):c.2274C>A (p.Gly758=)
|
rs12235714
|
0.00497
|
NM_001379081.2(FREM1):c.635T>G (p.Leu212Arg)
|
rs145369669
|
0.00451
|
NM_001379081.2(FREM1):c.1884G>A (p.Val628=)
|
rs140144319
|
0.00405
|
NM_001379081.2(FREM1):c.5329A>G (p.Ile1777Val)
|
rs73644847
|
0.00380
|
NM_001379081.2(FREM1):c.4377T>C (p.Asp1459=)
|
rs148327330
|
0.00362
|
NM_001379081.2(FREM1):c.4963G>A (p.Val1655Met)
|
rs114410606
|
0.00315
|
NM_001379081.2(FREM1):c.5212C>A (p.Leu1738Met)
|
rs138267253
|
0.00314
|
NM_001379081.2(FREM1):c.6528C>T (p.Ser2176=)
|
rs144454947
|
0.00247
|
NM_001379081.2(FREM1):c.4711G>A (p.Asp1571Asn)
|
rs115421185
|
0.00244
|
NM_001379081.2(FREM1):c.4564G>A (p.Val1522Met)
|
rs61735747
|
0.00226
|
NM_001379081.2(FREM1):c.3485A>G (p.Gln1162Arg)
|
rs113555227
|
0.00160
|
NM_001379081.2(FREM1):c.2337+19A>G
|
rs201898982
|
0.00158
|
NM_001379081.2(FREM1):c.1464C>T (p.Ser488=)
|
rs200064797
|
0.00155
|
NM_001379081.2(FREM1):c.5205-14C>T
|
rs77061232
|
0.00153
|
NM_001379081.2(FREM1):c.795C>A (p.Asp265Glu)
|
rs140222993
|
0.00128
|
NM_001379081.2(FREM1):c.1184A>C (p.Glu395Ala)
|
rs150070740
|
0.00126
|
NM_001379081.2(FREM1):c.4442+3G>A
|
rs181859461
|
0.00119
|
NM_001379081.2(FREM1):c.6258C>T (p.Tyr2086=)
|
rs187325866
|
0.00119
|
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)
|
rs184394424
|
0.00107
|
NM_001379081.2(FREM1):c.3147C>T (p.Ser1049=)
|
rs200894045
|
0.00092
|
NM_001379081.2(FREM1):c.1520G>A (p.Arg507His)
|
rs202115210
|
0.00089
|
NM_001379081.2(FREM1):c.5049C>T (p.Asn1683=)
|
rs200063334
|
0.00089
|
NM_001379081.2(FREM1):c.5622G>C (p.Trp1874Cys)
|
rs61745612
|
0.00087
|
NM_001379081.2(FREM1):c.3146C>G (p.Ser1049Cys)
|
rs199961802
|
0.00085
|
NM_001379081.2(FREM1):c.3874C>T (p.Arg1292Cys)
|
rs199806592
|
0.00078
|
NM_001379081.2(FREM1):c.3331C>T (p.His1111Tyr)
|
rs200339767
|
0.00068
|
NM_001379081.2(FREM1):c.3359A>T (p.Gln1120Leu)
|
rs143844459
|
0.00068
|
NM_001379081.2(FREM1):c.3631C>T (p.Pro1211Ser)
|
rs76714828
|
0.00064
|
NM_001379081.2(FREM1):c.4867T>C (p.Leu1623=)
|
rs369101934
|
0.00064
|
NM_001379081.2(FREM1):c.5123T>C (p.Ile1708Thr)
|
rs200472299
|
0.00055
|
NM_001379081.2(FREM1):c.541C>T (p.Arg181Trp)
|
rs200482899
|
0.00052
|
NM_001379081.2(FREM1):c.2169+11A>C
|
rs377670533
|
0.00051
|
NM_001379081.2(FREM1):c.5448C>T (p.Asp1816=)
|
rs374311778
|
0.00050
|
NM_001379081.2(FREM1):c.4995C>T (p.Asp1665=)
|
rs372941168
|
0.00049
|
NM_001379081.2(FREM1):c.4023C>G (p.Cys1341Trp)
|
rs200716268
|
0.00041
|
NM_001379081.2(FREM1):c.6465A>G (p.Gln2155=)
|
rs368790874
|
0.00039
|
NM_001379081.2(FREM1):c.4499A>T (p.Glu1500Val)
|
rs281875280
|
0.00038
|
NM_001379081.2(FREM1):c.4489A>T (p.Ile1497Phe)
|
rs377466529
|
0.00035
|
NM_001379081.2(FREM1):c.4875A>C (p.Lys1625Asn)
|
rs117881664
|
0.00033
|
NM_001379081.2(FREM1):c.6279A>G (p.Val2093=)
|
rs373107801
|
0.00033
|
NM_001379081.2(FREM1):c.5854A>T (p.Ile1952Leu)
|
rs201002953
|
0.00031
|
NM_001379081.2(FREM1):c.4945A>G (p.Ile1649Val)
|
rs199891537
|
0.00030
|
NM_001379081.2(FREM1):c.6021C>G (p.Pro2007=)
|
rs200987019
|
0.00030
|
NM_001379081.2(FREM1):c.4859T>C (p.Val1620Ala)
|
rs190763692
|
0.00029
|
NM_001379081.2(FREM1):c.70A>G (p.Thr24Ala)
|
rs372699811
|
0.00026
|
NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn)
|
rs200650442
|
0.00025
|
NM_001379081.2(FREM1):c.3756A>G (p.Gln1252=)
|
rs373197206
|
0.00022
|
NM_001379081.2(FREM1):c.4941C>T (p.Tyr1647=)
|
rs373880888
|
0.00020
|
NM_001379081.2(FREM1):c.1640C>G (p.Ala547Gly)
|
rs201056172
|
0.00019
|
NM_001379081.2(FREM1):c.2601C>T (p.Thr867=)
|
rs369150540
|
0.00019
|
NM_001379081.2(FREM1):c.2896G>A (p.Gly966Ser)
|
rs373345277
|
0.00019
|
NM_001379081.2(FREM1):c.546G>T (p.Leu182=)
|
rs369937228
|
0.00019
|
NM_001379081.2(FREM1):c.550G>A (p.Ala184Thr)
|
rs199682518
|
0.00019
|
NM_001379081.2(FREM1):c.3404T>C (p.Ile1135Thr)
|
rs187388944
|
0.00016
|
NM_001379081.2(FREM1):c.1393+6T>C
|
rs145871721
|
0.00015
|
NM_001379081.2(FREM1):c.2450G>A (p.Arg817Gln)
|
rs200495440
|
0.00015
|
NM_001379081.2(FREM1):c.4069G>A (p.Gly1357Arg)
|
rs775399423
|
0.00015
|
NM_001379081.2(FREM1):c.324T>A (p.Leu108=)
|
rs781396064
|
0.00013
|
NM_001379081.2(FREM1):c.329+10A>C
|
rs369341108
|
0.00013
|
NM_001379081.2(FREM1):c.3471+9C>T
|
rs377668876
|
0.00013
|
NM_001379081.2(FREM1):c.3857T>G (p.Met1286Arg)
|
rs375951503
|
0.00013
|
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg)
|
rs281875281
|
0.00013
|
NM_001379081.2(FREM1):c.3552G>A (p.Leu1184=)
|
rs371506251
|
0.00011
|
NM_001379081.2(FREM1):c.3860A>G (p.Asn1287Ser)
|
rs748356480
|
0.00011
|
NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met)
|
rs201617511
|
0.00011
|
NM_001379081.2(FREM1):c.533C>T (p.Ala178Val)
|
rs201834847
|
0.00011
|
NM_001379081.2(FREM1):c.6189C>T (p.Tyr2063=)
|
rs779712053
|
0.00011
|
NM_001379081.2(FREM1):c.3340A>T (p.Ile1114Leu)
|
rs369645961
|
0.00010
|
NM_001379081.2(FREM1):c.6010-3A>G
|
rs191713464
|
0.00010
|
NM_001379081.2(FREM1):c.8C>T (p.Ser3Phe)
|
rs201217735
|
0.00010
|
NM_001379081.2(FREM1):c.1329C>T (p.Asp443=)
|
rs201393312
|
0.00009
|
NM_001379081.2(FREM1):c.2420C>G (p.Thr807Ser)
|
rs768631811
|
0.00009
|
NM_001379081.2(FREM1):c.261C>T (p.Asn87=)
|
rs370943663
|
0.00009
|
NM_001379081.2(FREM1):c.4552G>T (p.Ala1518Ser)
|
rs775792241
|
0.00009
|
NM_001379081.2(FREM1):c.571G>A (p.Gly191Arg)
|
rs370556388
|
0.00009
|
NM_001379081.2(FREM1):c.6430C>T (p.Arg2144Cys)
|
rs747977032
|
0.00009
|
NM_001379081.2(FREM1):c.1739-17T>C
|
rs191993020
|
0.00008
|
NM_001379081.2(FREM1):c.6222C>T (p.Thr2074=)
|
rs370887201
|
0.00008
|
NM_001379081.2(FREM1):c.329+12G>A
|
rs552377277
|
0.00007
|
NM_001379081.2(FREM1):c.1288C>T (p.Arg430Ter)
|
rs369363695
|
0.00006
|
NM_001379081.2(FREM1):c.1492C>T (p.Arg498Trp)
|
rs200642807
|
0.00006
|
NM_001379081.2(FREM1):c.2640+16C>G
|
rs779202191
|
0.00006
|
NM_001379081.2(FREM1):c.3542A>T (p.Asp1181Val)
|
rs200883446
|
0.00006
|
NM_001379081.2(FREM1):c.3573A>G (p.Pro1191=)
|
rs375774862
|
0.00006
|
NM_001379081.2(FREM1):c.3789C>T (p.Thr1263=)
|
rs369457169
|
0.00006
|
NM_001379081.2(FREM1):c.4879G>T (p.Ala1627Ser)
|
rs370198850
|
0.00006
|
NM_001379081.2(FREM1):c.4983T>A (p.Pro1661=)
|
rs111333359
|
0.00006
|
NM_001379081.2(FREM1):c.5188T>G (p.Ser1730Ala)
|
rs370677344
|
0.00006
|
NM_001379081.2(FREM1):c.578C>G (p.Pro193Arg)
|
rs377565472
|
0.00006
|
NM_001379081.2(FREM1):c.5956C>T (p.Leu1986=)
|
rs375669260
|
0.00006
|
NM_001379081.2(FREM1):c.1038T>C (p.Thr346=)
|
rs773920119
|
0.00004
|
NM_001379081.2(FREM1):c.1882-14C>G
|
rs201311456
|
0.00004
|
NM_001379081.2(FREM1):c.2226C>A (p.Pro742=)
|
rs373535650
|
0.00004
|
NM_001379081.2(FREM1):c.241G>A (p.Asp81Asn)
|
rs749580522
|
0.00004
|
NM_001379081.2(FREM1):c.3094G>A (p.Val1032Met)
|
rs544959201
|
0.00004
|
NM_001379081.2(FREM1):c.3378A>G (p.Thr1126=)
|
rs202213402
|
0.00004
|
NM_001379081.2(FREM1):c.3904A>G (p.Ile1302Val)
|
rs577186728
|
0.00004
|
NM_001379081.2(FREM1):c.3932T>C (p.Ile1311Thr)
|
rs182527895
|
0.00004
|
NM_001379081.2(FREM1):c.4476C>T (p.His1492=)
|
rs368796043
|
0.00004
|
NM_001379081.2(FREM1):c.454C>T (p.Gln152Ter)
|
rs774044026
|
0.00004
|
NM_001379081.2(FREM1):c.5779C>T (p.Arg1927Cys)
|
rs754692429
|
0.00004
|
NM_001379081.2(FREM1):c.5942T>A (p.Ile1981Asn)
|
rs183882265
|
0.00004
|
NM_001379081.2(FREM1):c.6104G>A (p.Gly2035Glu)
|
rs771531342
|
0.00004
|
NM_001379081.2(FREM1):c.982C>G (p.Pro328Ala)
|
rs761361279
|
0.00004
|
NM_001379081.2(FREM1):c.1357G>A (p.Val453Ile)
|
rs748962196
|
0.00003
|
NM_001379081.2(FREM1):c.246C>T (p.Cys82=)
|
rs766485109
|
0.00003
|
NM_001379081.2(FREM1):c.4263C>T (p.Asp1421=)
|
rs773027758
|
0.00003
|
NM_001379081.2(FREM1):c.4684C>G (p.Leu1562Val)
|
rs759674293
|
0.00003
|
NM_001379081.2(FREM1):c.5205-4A>G
|
rs746001376
|
0.00003
|
NM_001379081.2(FREM1):c.329+7G>A
|
rs180917208
|
0.00002
|
NM_001379081.2(FREM1):c.4264G>A (p.Gly1422Arg)
|
rs771800252
|
0.00002
|
NM_001379081.2(FREM1):c.1053C>T (p.His351=)
|
rs371463084
|
0.00001
|
NM_001379081.2(FREM1):c.1166T>C (p.Val389Ala)
|
rs772311418
|
0.00001
|
NM_001379081.2(FREM1):c.1202C>T (p.Thr401Ile)
|
rs781583560
|
0.00001
|
NM_001379081.2(FREM1):c.1853A>G (p.His618Arg)
|
rs200445890
|
0.00001
|
NM_001379081.2(FREM1):c.2170-12C>G
|
rs778145981
|
0.00001
|
NM_001379081.2(FREM1):c.2640+7A>G
|
rs772475006
|
0.00001
|
NM_001379081.2(FREM1):c.292A>G (p.Ile98Val)
|
rs371148891
|
0.00001
|
NM_001379081.2(FREM1):c.3030G>A (p.Val1010=)
|
rs1360682452
|
0.00001
|
NM_001379081.2(FREM1):c.3274+4A>G
|
rs761999855
|
0.00001
|
NM_001379081.2(FREM1):c.3395C>A (p.Ser1132Tyr)
|
rs1818099210
|
0.00001
|
NM_001379081.2(FREM1):c.3562A>G (p.Thr1188Ala)
|
rs761348644
|
0.00001
|
NM_001379081.2(FREM1):c.3813T>A (p.Val1271=)
|
rs745782166
|
0.00001
|
NM_001379081.2(FREM1):c.382C>G (p.Leu128Val)
|
rs886043843
|
0.00001
|
NM_001379081.2(FREM1):c.396T>C (p.Cys132=)
|
rs1040244120
|
0.00001
|
NM_001379081.2(FREM1):c.4427C>G (p.Ser1476Cys)
|
rs1281430978
|
0.00001
|
NM_001379081.2(FREM1):c.4477G>A (p.Gly1493Arg)
|
rs536683402
|
0.00001
|
NM_001379081.2(FREM1):c.4542G>C (p.Gly1514=)
|
rs545742838
|
0.00001
|
NM_001379081.2(FREM1):c.4616C>T (p.Ala1539Val)
|
rs753002186
|
0.00001
|
NM_001379081.2(FREM1):c.4754A>G (p.Asp1585Gly)
|
rs544905717
|
0.00001
|
NM_001379081.2(FREM1):c.4801C>A (p.Gln1601Lys)
|
rs550726565
|
0.00001
|
NM_001379081.2(FREM1):c.5186A>G (p.Asn1729Ser)
|
rs1211552660
|
0.00001
|
NM_001379081.2(FREM1):c.544C>G (p.Leu182Val)
|
rs1230078063
|
0.00001
|
NM_001379081.2(FREM1):c.6037T>A (p.Cys2013Ser)
|
rs1420458990
|
0.00001
|
NM_001379081.2(FREM1):c.829-1G>C
|
rs1244506651
|
0.00001
|
NM_001379081.2(FREM1):c.973G>T (p.Asp325Tyr)
|
rs1429190733
|
0.00001
|
NM_001379081.2(FREM1):c.988C>T (p.Pro330Ser)
|
rs780012875
|
0.00001
|
GRCh37/hg19 9p22.3(chr9:14724200-14860436)x1
|
|
|
GRCh37/hg19 9p22.3(chr9:14757743-14830372)x1
|
|
|
GRCh37/hg19 9p22.3(chr9:14800838-14860305)x1
|
|
|
GRCh37/hg19 9p22.3(chr9:14801687-14856284)x1
|
|
|
GRCh37/hg19 9p22.3(chr9:14851617-15060291)x1
|
|
|
NC_000009.11:g.(?_14737394)_(14868975_?)del
|
|
|
NC_000009.11:g.(?_14737394)_(14868975_?)dup
|
|
|
NC_000009.11:g.(?_14801630)_(14859502_?)del
|
|
|
NM_001370058.2(FREM1):c.1596+455del
|
|
|
NM_001379081.2(FREM1):c.-135G>C
|
rs12238629
|
|
NM_001379081.2(FREM1):c.1019C>T (p.Pro340Leu)
|
|
|
NM_001379081.2(FREM1):c.1020G>A (p.Pro340=)
|
|
|
NM_001379081.2(FREM1):c.1104C>T (p.Ile368=)
|
|
|
NM_001379081.2(FREM1):c.1105G>A (p.Ala369Thr)
|
|
|
NM_001379081.2(FREM1):c.1117C>T (p.Pro373Ser)
|
|
|
NM_001379081.2(FREM1):c.1153-14_1153-13del
|
|
|
NM_001379081.2(FREM1):c.1157A>C (p.Glu386Ala)
|
|
|
NM_001379081.2(FREM1):c.1173C>T (p.Asp391=)
|
|
|
NM_001379081.2(FREM1):c.1173CTT[2] (p.Phe394del)
|
|
|
NM_001379081.2(FREM1):c.1240C>T (p.Pro414Ser)
|
|
|
NM_001379081.2(FREM1):c.1262-3T>C
|
|
|
NM_001379081.2(FREM1):c.1262-4A>G
|
|
|
NM_001379081.2(FREM1):c.1296C>T (p.Ile432=)
|
|
|
NM_001379081.2(FREM1):c.1320C>T (p.Val440=)
|
|
|
NM_001379081.2(FREM1):c.1321G>A (p.Asp441Asn)
|
|
|
NM_001379081.2(FREM1):c.1325A>G (p.Asn442Ser)
|
|
|
NM_001379081.2(FREM1):c.1393+17G>T
|
|
|
NM_001379081.2(FREM1):c.1394G>C (p.Gly465Ala)
|
rs41298151
|
|
NM_001379081.2(FREM1):c.1425C>T (p.Asp475=)
|
rs1588306146
|
|
NM_001379081.2(FREM1):c.1432G>T (p.Ala478Ser)
|
|
|
NM_001379081.2(FREM1):c.1463G>A (p.Ser488Asn)
|
|
|
NM_001379081.2(FREM1):c.1465G>A (p.Asp489Asn)
|
|
|
NM_001379081.2(FREM1):c.1518C>T (p.Ile506=)
|
|
|
NM_001379081.2(FREM1):c.1539C>T (p.Asn513=)
|
|
|
NM_001379081.2(FREM1):c.1565C>T (p.Pro522Leu)
|
|
|
NM_001379081.2(FREM1):c.1578C>A (p.Thr526=)
|
|
|
NM_001379081.2(FREM1):c.1616T>A (p.Leu539Gln)
|
|
|
NM_001379081.2(FREM1):c.1634T>C (p.Leu545Pro)
|
rs1588304573
|
|
NM_001379081.2(FREM1):c.1637G>A (p.Arg546Gln)
|
|
|
NM_001379081.2(FREM1):c.1654G>A (p.Ala552Thr)
|
|
|
NM_001379081.2(FREM1):c.1795C>T (p.Arg599Cys)
|
|
|
NM_001379081.2(FREM1):c.1796G>A (p.Arg599His)
|
|
|
NM_001379081.2(FREM1):c.1875G>A (p.Val625=)
|
|
|
NM_001379081.2(FREM1):c.1875G>T (p.Val625=)
|
|
|
NM_001379081.2(FREM1):c.1881+58G>C
|
rs1552896
|
|
NM_001379081.2(FREM1):c.1902T>C (p.Thr634=)
|
|
|
NM_001379081.2(FREM1):c.1945C>T (p.Arg649Trp)
|
rs121912609
|
|
NM_001379081.2(FREM1):c.2008G>A (p.Asp670Asn)
|
|
|
NM_001379081.2(FREM1):c.2042C>T (p.Thr681Ile)
|
rs1298355353
|
|
NM_001379081.2(FREM1):c.2044A>G (p.Ile682Val)
|
|
|
NM_001379081.2(FREM1):c.2058A>G (p.Pro686=)
|
|
|
NM_001379081.2(FREM1):c.2078+11del
|
|
|
NM_001379081.2(FREM1):c.2078+1G>T
|
|
|
NM_001379081.2(FREM1):c.2079-4T>G
|
|
|
NM_001379081.2(FREM1):c.2106G>A (p.Met702Ile)
|
rs1223115613
|
|
NM_001379081.2(FREM1):c.2107G>T (p.Val703Leu)
|
|
|
NM_001379081.2(FREM1):c.2127A>G (p.Val709=)
|
|
|
NM_001379081.2(FREM1):c.2208C>T (p.Pro736=)
|
|
|
NM_001379081.2(FREM1):c.2212C>G (p.Gln738Glu)
|
rs182946445
|
|
NM_001379081.2(FREM1):c.2223T>G (p.Gly741=)
|
|
|
NM_001379081.2(FREM1):c.2224C>T (p.Pro742Ser)
|
|
|
NM_001379081.2(FREM1):c.2299A>C (p.Asn767His)
|
rs1821701872
|
|
NM_001379081.2(FREM1):c.2321A>G (p.Asp774Gly)
|
|
|
NM_001379081.2(FREM1):c.2337+17A>G
|
|
|
NM_001379081.2(FREM1):c.2337+18T>C
|
|
|
NM_001379081.2(FREM1):c.2337+192A>G
|
rs12342625
|
|
NM_001379081.2(FREM1):c.234+10A>T
|
|
|
NM_001379081.2(FREM1):c.234+12C>T
|
|
|
NM_001379081.2(FREM1):c.234+1G>T
|
|
|
NM_001379081.2(FREM1):c.2340G>T (p.Ala780=)
|
|
|
NM_001379081.2(FREM1):c.2351C>A (p.Pro784His)
|
|
|
NM_001379081.2(FREM1):c.2377A>G (p.Ser793Gly)
|
|
|
NM_001379081.2(FREM1):c.2385C>A (p.Ile795=)
|
|
|
NM_001379081.2(FREM1):c.2387G>C (p.Ser796Thr)
|
|
|
NM_001379081.2(FREM1):c.2423A>G (p.Lys808Arg)
|
|
|
NM_001379081.2(FREM1):c.243C>G (p.Asp81Glu)
|
|
|
NM_001379081.2(FREM1):c.2459C>T (p.Pro820Leu)
|
rs868815512
|
|
NM_001379081.2(FREM1):c.245G>T (p.Cys82Phe)
|
|
|
NM_001379081.2(FREM1):c.2478G>A (p.Glu826=)
|
|
|
NM_001379081.2(FREM1):c.253C>T (p.Leu85Phe)
|
rs868305638
|
|
NM_001379081.2(FREM1):c.2542G>T (p.Val848Phe)
|
|
|
NM_001379081.2(FREM1):c.2547-15del
|
|
|
NM_001379081.2(FREM1):c.2563A>G (p.Thr855Ala)
|
|
|
NM_001379081.2(FREM1):c.2604T>C (p.Asp868=)
|
rs2130638517
|
|
NM_001379081.2(FREM1):c.2640+11A>C
|
|
|
NM_001379081.2(FREM1):c.2894-11G>T
|
|
|
NM_001379081.2(FREM1):c.2898C>T (p.Gly966=)
|
|
|
NM_001379081.2(FREM1):c.2945C>T (p.Ser982Leu)
|
|
|
NM_001379081.2(FREM1):c.2963C>G (p.Pro988Arg)
|
|
|
NM_001379081.2(FREM1):c.3017C>T (p.Ala1006Val)
|
|
|
NM_001379081.2(FREM1):c.3020C>G (p.Ser1007Cys)
|
|
|
NM_001379081.2(FREM1):c.3021C>G (p.Ser1007=)
|
|
|
NM_001379081.2(FREM1):c.3044T>A (p.Ile1015Asn)
|
|
|
NM_001379081.2(FREM1):c.3045C>T (p.Ile1015=)
|
|
|
NM_001379081.2(FREM1):c.3088+156C>T
|
rs79215121
|
|
NM_001379081.2(FREM1):c.3088+18T>C
|
|
|
NM_001379081.2(FREM1):c.3092C>T (p.Pro1031Leu)
|
|
|
NM_001379081.2(FREM1):c.3093C>T (p.Pro1031=)
|
|
|
NM_001379081.2(FREM1):c.3114C>G (p.Gly1038=)
|
rs765109399
|
|
NM_001379081.2(FREM1):c.3138C>T (p.Asn1046=)
|
|
|
NM_001379081.2(FREM1):c.3267A>C (p.Ile1089=)
|
|
|
NM_001379081.2(FREM1):c.3274+15C>T
|
|
|
NM_001379081.2(FREM1):c.3275-3T>C
|
|
|
NM_001379081.2(FREM1):c.329+11C>T
|
|
|
NM_001379081.2(FREM1):c.329+7G>T
|
rs180917208
|
|
NM_001379081.2(FREM1):c.3298A>T (p.Asn1100Tyr)
|
|
|
NM_001379081.2(FREM1):c.330-18G>T
|
|
|
NM_001379081.2(FREM1):c.3300C>A (p.Asn1100Lys)
|
|
|
NM_001379081.2(FREM1):c.3300C>T (p.Asn1100=)
|
|
|
NM_001379081.2(FREM1):c.3317A>G (p.Tyr1106Cys)
|
|
|
NM_001379081.2(FREM1):c.3330G>A (p.Arg1110=)
|
|
|
NM_001379081.2(FREM1):c.3339G>A (p.Arg1113=)
|
|
|
NM_001379081.2(FREM1):c.3357C>A (p.Asp1119Glu)
|
|
|
NM_001379081.2(FREM1):c.3373G>A (p.Val1125Ile)
|
|
|
NM_001379081.2(FREM1):c.3377C>T (p.Thr1126Ile)
|
|
|
NM_001379081.2(FREM1):c.3378A>T (p.Thr1126=)
|
|
|
NM_001379081.2(FREM1):c.3399G>A (p.Leu1133=)
|
|
|
NM_001379081.2(FREM1):c.3420A>T (p.Ile1140=)
|
|
|
NM_001379081.2(FREM1):c.342A>G (p.Arg114=)
|
|
|
NM_001379081.2(FREM1):c.3439G>T (p.Glu1147Ter)
|
|
|
NM_001379081.2(FREM1):c.344A>T (p.Asp115Val)
|
|
|
NM_001379081.2(FREM1):c.3471+18A>G
|
|
|
NM_001379081.2(FREM1):c.347C>G (p.Thr116Ser)
|
rs747949999
|
|
NM_001379081.2(FREM1):c.3484C>G (p.Gln1162Glu)
|
|
|
NM_001379081.2(FREM1):c.3513C>G (p.Ile1171Met)
|
rs774280190
|
|
NM_001379081.2(FREM1):c.3517G>T (p.Ala1173Ser)
|
rs564039071
|
|
NM_001379081.2(FREM1):c.3535C>A (p.Pro1179Thr)
|
|
|
NM_001379081.2(FREM1):c.3541G>C (p.Asp1181His)
|
|
|
NM_001379081.2(FREM1):c.3547C>A (p.Leu1183Met)
|
|
|
NM_001379081.2(FREM1):c.3575G>T (p.Arg1192Leu)
|
|
|
NM_001379081.2(FREM1):c.3585C>T (p.Leu1195=)
|
|
|
NM_001379081.2(FREM1):c.3593A>C (p.Asp1198Ala)
|
|
|
NM_001379081.2(FREM1):c.3598G>A (p.Gly1200Arg)
|
|
|
NM_001379081.2(FREM1):c.3600G>C (p.Gly1200=)
|
|
|
NM_001379081.2(FREM1):c.3615C>G (p.Phe1205Leu)
|
|
|
NM_001379081.2(FREM1):c.3619G>C (p.Glu1207Gln)
|
|
|
NM_001379081.2(FREM1):c.366C>G (p.Ile122Met)
|
|
|
NM_001379081.2(FREM1):c.3681A>G (p.Glu1227=)
|
|
|
NM_001379081.2(FREM1):c.3688A>G (p.Lys1230Glu)
|
|
|
NM_001379081.2(FREM1):c.3694+1G>T
|
rs1187630820
|
|
NM_001379081.2(FREM1):c.36G>C (p.Val12=)
|
|
|
NM_001379081.2(FREM1):c.3717TGA[1] (p.Asp1241del)
|
|
|
NM_001379081.2(FREM1):c.3723C>T (p.Asp1241=)
|
|
|
NM_001379081.2(FREM1):c.3732C>A (p.Ser1244Arg)
|
|
|
NM_001379081.2(FREM1):c.3756A>T (p.Gln1252His)
|
|
|
NM_001379081.2(FREM1):c.3784A>T (p.Lys1262Ter)
|
rs2133202137
|
|
NM_001379081.2(FREM1):c.3802G>T (p.Val1268Phe)
|
rs554857144
|
|
NM_001379081.2(FREM1):c.3839+11T>G
|
|
|
NM_001379081.2(FREM1):c.3839+17G>T
|
|
|
NM_001379081.2(FREM1):c.3839+197G>C
|
rs117899256
|
|
NM_001379081.2(FREM1):c.3839+71GT[7]
|
rs144830277
|
|
NM_001379081.2(FREM1):c.3840-10C>G
|
|
|
NM_001379081.2(FREM1):c.3840-2A>G
|
|
|
NM_001379081.2(FREM1):c.3854C>T (p.Ala1285Val)
|
|
|
NM_001379081.2(FREM1):c.3865G>A (p.Gly1289Ser)
|
|
|
NM_001379081.2(FREM1):c.387A>T (p.Glu129Asp)
|
|
|
NM_001379081.2(FREM1):c.3892A>T (p.Ile1298Phe)
|
|
|
NM_001379081.2(FREM1):c.3910G>T (p.Glu1304Ter)
|
rs1131691724
|
|
NM_001379081.2(FREM1):c.3914A>G (p.Asp1305Gly)
|
|
|
NM_001379081.2(FREM1):c.3925del (p.Glu1309fs)
|
rs773469926
|
|
NM_001379081.2(FREM1):c.3926AGA[1] (p.Lys1310del)
|
|
|
NM_001379081.2(FREM1):c.3955C>T (p.Pro1319Ser)
|
|
|
NM_001379081.2(FREM1):c.3981+7G>A
|
|
|
NM_001379081.2(FREM1):c.3982-22_3982-19del
|
|
|
NM_001379081.2(FREM1):c.4038G>T (p.Val1346=)
|
|
|
NM_001379081.2(FREM1):c.4056A>G (p.Arg1352=)
|
|
|
NM_001379081.2(FREM1):c.4064A>C (p.His1355Pro)
|
rs763901210
|
|
NM_001379081.2(FREM1):c.4068C>T (p.Thr1356=)
|
|
|
NM_001379081.2(FREM1):c.4114T>G (p.Trp1372Gly)
|
|
|
NM_001379081.2(FREM1):c.4119T>C (p.Asp1373=)
|
|
|
NM_001379081.2(FREM1):c.4128C>T (p.Asn1376=)
|
|
|
NM_001379081.2(FREM1):c.4168A>G (p.Met1390Val)
|
|
|
NM_001379081.2(FREM1):c.4170G>T (p.Met1390Ile)
|
|
|
NM_001379081.2(FREM1):c.4177+11G>A
|
|
|
NM_001379081.2(FREM1):c.4178-17C>A
|
|
|
NM_001379081.2(FREM1):c.4178-1G>A
|
rs2132864714
|
|
NM_001379081.2(FREM1):c.4204C>G (p.Leu1402Val)
|
rs770679670
|
|
NM_001379081.2(FREM1):c.4206C>A (p.Leu1402=)
|
|
|
NM_001379081.2(FREM1):c.4243A>G (p.Thr1415Ala)
|
rs2132862989
|
|
NM_001379081.2(FREM1):c.4244C>G (p.Thr1415Ser)
|
rs75677527
|
|
NM_001379081.2(FREM1):c.4244C>T (p.Thr1415Ile)
|
|
|
NM_001379081.2(FREM1):c.4247C>T (p.Thr1416Met)
|
|
|
NM_001379081.2(FREM1):c.4312C>T (p.Arg1438Ter)
|
|
|
NM_001379081.2(FREM1):c.4318G>A (p.Gly1440Ser)
|
rs121912610
|
|
NM_001379081.2(FREM1):c.4326C>T (p.Ile1442=)
|
|
|
NM_001379081.2(FREM1):c.4353C>T (p.Pro1451=)
|
|
|
NM_001379081.2(FREM1):c.4365C>T (p.Phe1455=)
|
|
|
NM_001379081.2(FREM1):c.4367G>A (p.Ser1456Asn)
|
rs794727407
|
|
NM_001379081.2(FREM1):c.4375G>C (p.Asp1459His)
|
|
|
NM_001379081.2(FREM1):c.4375dup (p.Asp1459fs)
|
rs2132858731
|
|
NM_001379081.2(FREM1):c.4392A>C (p.Thr1464=)
|
|
|
NM_001379081.2(FREM1):c.4405C>T (p.His1469Tyr)
|
|
|
NM_001379081.2(FREM1):c.4410G>A (p.Lys1470=)
|
|
|
NM_001379081.2(FREM1):c.4413C>T (p.Ser1471=)
|
|
|
NM_001379081.2(FREM1):c.4443-3C>G
|
|
|
NM_001379081.2(FREM1):c.4468_4469insG (p.Thr1490fs)
|
rs1563900085
|
|
NM_001379081.2(FREM1):c.447C>G (p.Gly149=)
|
|
|
NM_001379081.2(FREM1):c.4482G>A (p.Val1494=)
|
|
|
NM_001379081.2(FREM1):c.4500G>A (p.Glu1500=)
|
rs561131255
|
|
NM_001379081.2(FREM1):c.4563C>A (p.Ala1521=)
|
rs60091943
|
|
NM_001379081.2(FREM1):c.4578C>G (p.Ser1526=)
|
|
|
NM_001379081.2(FREM1):c.4580C>A (p.Pro1527His)
|
|
|
NM_001379081.2(FREM1):c.4583A>G (p.Asp1528Gly)
|
|
|
NM_001379081.2(FREM1):c.4599C>T (p.Thr1533=)
|
rs540319616
|
|
NM_001379081.2(FREM1):c.459G>T (p.Ala153=)
|
|
|
NM_001379081.2(FREM1):c.4600G>A (p.Asp1534Asn)
|
|
|
NM_001379081.2(FREM1):c.4639G>T (p.Val1547Phe)
|
|
|
NM_001379081.2(FREM1):c.4644G>C (p.Gln1548His)
|
|
|
NM_001379081.2(FREM1):c.4651del (p.Gln1551fs)
|
rs1563898470
|
|
NM_001379081.2(FREM1):c.4665C>G (p.Leu1555=)
|
|
|
NM_001379081.2(FREM1):c.4665C>T (p.Leu1555=)
|
|
|
NM_001379081.2(FREM1):c.4677G>A (p.Gly1559=)
|
|
|
NM_001379081.2(FREM1):c.4686A>G (p.Leu1562=)
|
|
|
NM_001379081.2(FREM1):c.4692A>G (p.Gln1564=)
|
|
|
NM_001379081.2(FREM1):c.4738C>T (p.Arg1580Trp)
|
|
|
NM_001379081.2(FREM1):c.4770C>G (p.Cys1590Trp)
|
|
|
NM_001379081.2(FREM1):c.4779C>G (p.Phe1593Leu)
|
|
|
NM_001379081.2(FREM1):c.4791_4792inv (p.Gly1598Arg)
|
|
|
NM_001379081.2(FREM1):c.4820G>C (p.Gly1607Ala)
|
|
|
NM_001379081.2(FREM1):c.483C>T (p.Phe161=)
|
rs540878376
|
|
NM_001379081.2(FREM1):c.4848C>T (p.Phe1616=)
|
|
|
NM_001379081.2(FREM1):c.4857+57_4857+58insC
|
rs71323911
|
|
NM_001379081.2(FREM1):c.4857+57_4857+58insCT
|
rs71323911
|
|
NM_001379081.2(FREM1):c.4858-17C>T
|
|
|
NM_001379081.2(FREM1):c.4916T>A (p.Val1639Glu)
|
|
|
NM_001379081.2(FREM1):c.4941C>A (p.Tyr1647Ter)
|
rs373880888
|
|
NM_001379081.2(FREM1):c.4960C>T (p.Arg1654Cys)
|
|
|
NM_001379081.2(FREM1):c.4962C>T (p.Arg1654=)
|
|
|
NM_001379081.2(FREM1):c.4990G>A (p.Glu1664Lys)
|
|
|
NM_001379081.2(FREM1):c.4992_4993insA (p.Asp1665fs)
|
rs2132498352
|
|
NM_001379081.2(FREM1):c.5028A>G (p.Pro1676=)
|
|
|
NM_001379081.2(FREM1):c.5049C>G (p.Asn1683Lys)
|
rs200063334
|
|
NM_001379081.2(FREM1):c.5059+18C>G
|
|
|
NM_001379081.2(FREM1):c.5157G>A (p.Val1719=)
|
|
|
NM_001379081.2(FREM1):c.516C>T (p.Thr172=)
|
rs41265310
|
|
NM_001379081.2(FREM1):c.5204+8C>G
|
rs376644135
|
|
NM_001379081.2(FREM1):c.5205-1G>C
|
|
|
NM_001379081.2(FREM1):c.5205-1G>T
|
rs1064797351
|
|
NM_001379081.2(FREM1):c.5205-5C>A
|
|
|
NM_001379081.2(FREM1):c.5220G>T (p.Trp1740Cys)
|
rs995343347
|
|
NM_001379081.2(FREM1):c.5232A>G (p.Glu1744=)
|
|
|
NM_001379081.2(FREM1):c.5244C>G (p.Thr1748=)
|
rs150403611
|
|
NM_001379081.2(FREM1):c.5268G>A (p.Val1756=)
|
|
|
NM_001379081.2(FREM1):c.5313C>T (p.Asp1771=)
|
|
|
NM_001379081.2(FREM1):c.5316G>A (p.Ser1772=)
|
|
|
NM_001379081.2(FREM1):c.5316G>T (p.Ser1772=)
|
rs775863172
|
|
NM_001379081.2(FREM1):c.5335-11T>C
|
|
|
NM_001379081.2(FREM1):c.5335-11del
|
rs140882884
|
|
NM_001379081.2(FREM1):c.5335-11dup
|
rs140882884
|
|
NM_001379081.2(FREM1):c.5335-6C>G
|
rs1298255599
|
|
NM_001379081.2(FREM1):c.5335-7T>C
|
|
|
NM_001379081.2(FREM1):c.5335-8C>A
|
|
|
NM_001379081.2(FREM1):c.5335-8dup
|
rs201316684
|
|
NM_001379081.2(FREM1):c.5361A>G (p.Gly1787=)
|
|
|
NM_001379081.2(FREM1):c.5373C>T (p.Thr1791=)
|
|
|
NM_001379081.2(FREM1):c.5403C>T (p.Asp1801=)
|
|
|
NM_001379081.2(FREM1):c.5407+45dup
|
rs57793294
|
|
NM_001379081.2(FREM1):c.5408-17del
|
|
|
NM_001379081.2(FREM1):c.5412G>A (p.Met1804Ile)
|
rs1843121623
|
|
NM_001379081.2(FREM1):c.5449G>A (p.Gly1817Arg)
|
|
|
NM_001379081.2(FREM1):c.5532A>G (p.Ala1844=)
|
rs1249507655
|
|
NM_001379081.2(FREM1):c.5556A>G (p.Gly1852=)
|
|
|
NM_001379081.2(FREM1):c.5594A>T (p.Lys1865Met)
|
|
|
NM_001379081.2(FREM1):c.5670T>C (p.Phe1890=)
|
rs756654353
|
|
NM_001379081.2(FREM1):c.5678A>G (p.Glu1893Gly)
|
|
|
NM_001379081.2(FREM1):c.5704C>A (p.Gln1902Lys)
|
|
|
NM_001379081.2(FREM1):c.5729C>T (p.Thr1910Ile)
|
|
|
NM_001379081.2(FREM1):c.5735G>A (p.Arg1912Gln)
|
|
|
NM_001379081.2(FREM1):c.5780G>A (p.Arg1927His)
|
|
|
NM_001379081.2(FREM1):c.5796+19T>C
|
|
|
NM_001379081.2(FREM1):c.5797-7A>T
|
|
|
NM_001379081.2(FREM1):c.5800C>T (p.Arg1934Cys)
|
|
|
NM_001379081.2(FREM1):c.5801G>A (p.Arg1934His)
|
|
|
NM_001379081.2(FREM1):c.5808C>T (p.Ser1936=)
|
|
|
NM_001379081.2(FREM1):c.5816A>G (p.Tyr1939Cys)
|
|
|
NM_001379081.2(FREM1):c.581G>A (p.Arg194Gln)
|
|
|
NM_001379081.2(FREM1):c.5877T>C (p.Asp1959=)
|
|
|
NM_001379081.2(FREM1):c.5892T>C (p.Thr1964=)
|
|
|
NM_001379081.2(FREM1):c.5934A>G (p.Gln1978=)
|
|
|
NM_001379081.2(FREM1):c.6010-11C>T
|
|
|
NM_001379081.2(FREM1):c.6039C>T (p.Cys2013=)
|
|
|
NM_001379081.2(FREM1):c.6109G>A (p.Ala2037Thr)
|
|
|
NM_001379081.2(FREM1):c.6109G>T (p.Ala2037Ser)
|
|
|
NM_001379081.2(FREM1):c.6138+13C>G
|
|
|
NM_001379081.2(FREM1):c.6138+14T>C
|
|
|
NM_001379081.2(FREM1):c.6138+15G>A
|
|
|
NM_001379081.2(FREM1):c.6139-15A>G
|
|
|
NM_001379081.2(FREM1):c.6139-2A>G
|
|
|
NM_001379081.2(FREM1):c.6139-4T>A
|
rs77135480
|
|
NM_001379081.2(FREM1):c.6139-4T>C
|
rs77135480
|
|
NM_001379081.2(FREM1):c.6144G>A (p.Val2048=)
|
|
|
NM_001379081.2(FREM1):c.617T>C (p.Phe206Ser)
|
rs2131557195
|
|
NM_001379081.2(FREM1):c.6186C>T (p.Gly2062=)
|
|
|
NM_001379081.2(FREM1):c.6222C>G (p.Thr2074=)
|
|
|
NM_001379081.2(FREM1):c.6231G>A (p.Ala2077=)
|
rs148735553
|
|
NM_001379081.2(FREM1):c.6231G>T (p.Ala2077=)
|
rs148735553
|
|
NM_001379081.2(FREM1):c.624A>G (p.Pro208=)
|
|
|
NM_001379081.2(FREM1):c.6254+45A>T
|
rs41265300
|
|
NM_001379081.2(FREM1):c.6271G>A (p.Val2091Ile)
|
rs281875282
|
|
NM_001379081.2(FREM1):c.6282C>A (p.Phe2094Leu)
|
|
|
NM_001379081.2(FREM1):c.6284C>G (p.Ser2095Cys)
|
|
|
NM_001379081.2(FREM1):c.6298C>T (p.Arg2100Trp)
|
rs200489692
|
|
NM_001379081.2(FREM1):c.632-11G>A
|
|
|
NM_001379081.2(FREM1):c.632-14G>A
|
|
|
NM_001379081.2(FREM1):c.6340+9C>T
|
rs562121209
|
|
NM_001379081.2(FREM1):c.6341-1G>A
|
rs772360985
|
|
NM_001379081.2(FREM1):c.6359A>G (p.His2120Arg)
|
|
|
NM_001379081.2(FREM1):c.6392C>T (p.Pro2131Leu)
|
|
|
NM_001379081.2(FREM1):c.6408T>C (p.Asn2136=)
|
|
|
NM_001379081.2(FREM1):c.6418G>A (p.Gly2140Arg)
|
|
|
NM_001379081.2(FREM1):c.6431G>A (p.Arg2144His)
|
|
|
NM_001379081.2(FREM1):c.6454G>A (p.Val2152Ile)
|
rs886063764
|
|
NM_001379081.2(FREM1):c.6474G>A (p.Gly2158=)
|
|
|
NM_001379081.2(FREM1):c.6482A>T (p.Gln2161Leu)
|
|
|
NM_001379081.2(FREM1):c.6512A>G (p.His2171Arg)
|
|
|
NM_001379081.2(FREM1):c.672C>G (p.Thr224=)
|
rs1588406105
|
|
NM_001379081.2(FREM1):c.674C>T (p.Pro225Leu)
|
|
|
NM_001379081.2(FREM1):c.693A>G (p.Gly231=)
|
|
|
NM_001379081.2(FREM1):c.6C>T (p.Asn2=)
|
|
|
NM_001379081.2(FREM1):c.718T>C (p.Phe240Leu)
|
|
|
NM_001379081.2(FREM1):c.737G>A (p.Arg246His)
|
|
|
NM_001379081.2(FREM1):c.738T>C (p.Arg246=)
|
|
|
NM_001379081.2(FREM1):c.770T>C (p.Ile257Thr)
|
|
|
NM_001379081.2(FREM1):c.828+13G>A
|
|
|
NM_001379081.2(FREM1):c.828+15T>G
|
|
|
NM_001379081.2(FREM1):c.828+5A>C
|
|
|
NM_001379081.2(FREM1):c.829-18T>C
|
|
|
NM_001379081.2(FREM1):c.873G>A (p.Pro291=)
|
|
|
NM_001379081.2(FREM1):c.897C>T (p.Phe299=)
|
|
|
NM_001379081.2(FREM1):c.898A>G (p.Met300Val)
|
|
|
NM_001379081.2(FREM1):c.923A>G (p.Asp308Gly)
|
|
|
NM_001379081.2(FREM1):c.939del (p.Ser314fs)
|
rs1564076333
|
|
NM_001379081.2(FREM1):c.969AGA[1] (p.Glu324del)
|
|
|
NM_001379081.2(FREM1):c.987A>T (p.Lys329Asn)
|
|
|