NM_015404.4(WHRN):c.2256= (p.Gln752=)
|
rs6478078
|
0.99456
|
NM_015404.4(WHRN):c.1091= (p.His364=)
|
rs10817610
|
0.98173
|
NM_015404.4(WHRN):c.1699-128T>C
|
rs2236388
|
0.87038
|
NM_015404.4(WHRN):c.1353T>C (p.Gly451=)
|
rs4979387
|
0.76260
|
NM_015404.4(WHRN):c.1626+199T>C
|
rs2181928
|
0.56084
|
NM_015404.4(WHRN):c.1838T>C (p.Met613Thr)
|
rs942519
|
0.47944
|
NM_015404.4(WHRN):c.1416+151A>G
|
rs4979385
|
0.44586
|
NM_015404.4(WHRN):c.2348T>C (p.Val783Ala)
|
rs2274159
|
0.40624
|
NM_015404.4(WHRN):c.2418+142A>G
|
rs10739410
|
0.40617
|
NM_015404.4(WHRN):c.963+206G>A
|
rs1535970
|
0.36724
|
NM_015404.4(WHRN):c.-510G>A
|
rs10759714
|
0.36192
|
NM_015404.4(WHRN):c.-391C>A
|
rs4527950
|
0.35348
|
NM_015404.4(WHRN):c.-91C>T
|
rs2297814
|
0.33038
|
NM_015404.4(WHRN):c.117G>A (p.Val39=)
|
rs2297815
|
0.33019
|
NM_015404.4(WHRN):c.964-21A>G
|
rs2274163
|
0.31128
|
NM_015404.4(WHRN):c.1627-12G>A
|
rs2274160
|
0.23283
|
NM_015404.4(WHRN):c.2419-118G>A
|
rs55833018
|
0.20991
|
NM_015404.4(WHRN):c.1417-224A>G
|
rs2274161
|
0.20119
|
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr)
|
rs4978584
|
0.19569
|
NM_015404.4(WHRN):c.1416+22A>T
|
rs4979386
|
0.19539
|
NM_015404.4(WHRN):c.2237-190T>C
|
rs766835
|
0.19491
|
NM_015404.4(WHRN):c.1698+292G>T
|
rs10982201
|
0.19211
|
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys)
|
rs2274158
|
0.19185
|
NM_015404.4(WHRN):c.2283C>T (p.Ser761=)
|
rs34963246
|
0.12235
|
NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala)
|
rs12339210
|
0.09351
|
NM_015404.4(WHRN):c.1167-264G>A
|
rs10122624
|
0.06418
|
NM_015404.4(WHRN):c.963+314T>A
|
rs73656118
|
0.03998
|
NM_015404.4(WHRN):c.963+315G>C
|
rs73656117
|
0.03996
|
NM_015404.2(WHRN):c.-695A>T
|
rs56085454
|
0.03180
|
NM_015404.4(WHRN):c.1515G>A (p.Ala505=)
|
rs34252199
|
0.03118
|
NM_015404.4(WHRN):c.-257C>G
|
rs73555447
|
0.02919
|
NM_015404.4(WHRN):c.-204C>G
|
rs145985595
|
0.02512
|
NM_015404.4(WHRN):c.1167-90G>A
|
rs114621936
|
0.02033
|
NM_015404.4(WHRN):c.1091A>G (p.His364Arg)
|
rs10817610
|
0.01827
|
NM_015404.4(WHRN):c.-295C>G
|
rs7861589
|
0.01478
|
NM_015404.4(WHRN):c.1699-178G>A
|
rs116320508
|
0.01438
|
NM_015404.4(WHRN):c.1203+20_1203+21dup
|
rs147319712
|
0.01375
|
NM_015404.4(WHRN):c.963+280dup
|
rs138194289
|
0.01122
|
NM_015404.4(WHRN):c.2541+134C>T
|
rs41278663
|
0.01053
|
NM_015404.4(WHRN):c.1166+43A>T
|
rs115632847
|
0.00813
|
NM_015404.4(WHRN):c.963+180A>G
|
rs146916265
|
0.00713
|
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser)
|
rs56204273
|
0.00613
|
NM_015404.4(WHRN):c.667C>T (p.Arg223Cys)
|
rs76593842
|
0.00578
|
NM_015404.4(WHRN):c.2046G>C (p.Arg682=)
|
rs35258467
|
0.00555
|
NM_015404.4(WHRN):c.2439G>A (p.Thr813=)
|
rs61743618
|
0.00545
|
NM_015404.4(WHRN):c.2256G>C (p.Gln752His)
|
rs6478078
|
0.00544
|
NM_015404.4(WHRN):c.1166+191A>G
|
rs150121300
|
0.00500
|
NM_015404.4(WHRN):c.764G>A (p.Gly255Asp)
|
rs79509430
|
0.00475
|
NM_015404.4(WHRN):c.1166+18G>A
|
rs149202009
|
0.00456
|
NM_015404.4(WHRN):c.1166+23A>G
|
rs56050936
|
0.00444
|
NM_015404.4(WHRN):c.2586C>A (p.His862Gln)
|
rs117592152
|
0.00424
|
NM_015404.4(WHRN):c.838-48A>C
|
rs199902215
|
0.00376
|
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu)
|
rs79572315
|
0.00364
|
NM_015404.4(WHRN):c.1365T>C (p.Ser455=)
|
rs111033459
|
0.00294
|
NM_015404.4(WHRN):c.1627-5T>A
|
rs187221008
|
0.00184
|
NM_015404.4(WHRN):c.1305C>T (p.Asn435=)
|
rs150407952
|
0.00177
|
NM_015404.4(WHRN):c.-34C>T
|
rs545201037
|
0.00165
|
NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp)
|
rs142990800
|
0.00147
|
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg)
|
rs572671060
|
0.00141
|
NM_015404.4(WHRN):c.1204-33G>A
|
rs78371346
|
0.00130
|
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)
|
rs45527543
|
0.00130
|
NM_015404.4(WHRN):c.668G>A (p.Arg223His)
|
rs146273185
|
0.00122
|
NM_015404.4(WHRN):c.1352G>A (p.Gly451Asp)
|
rs117352600
|
0.00120
|
NM_015404.4(WHRN):c.1870C>T (p.Pro624Ser)
|
rs140759343
|
0.00105
|
NM_015404.4(WHRN):c.234G>A (p.Leu78=)
|
rs148785227
|
0.00099
|
NM_015404.4(WHRN):c.75C>T (p.Gly25=)
|
rs771128098
|
0.00099
|
NM_015404.4(WHRN):c.1149C>T (p.Thr383=)
|
rs149558159
|
0.00098
|
NM_015404.4(WHRN):c.1204-17A>G
|
rs200002920
|
0.00098
|
NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr)
|
rs142653982
|
0.00098
|
NM_015404.4(WHRN):c.1992G>A (p.Pro664=)
|
rs142568702
|
0.00084
|
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp)
|
rs56059137
|
0.00083
|
NM_015404.4(WHRN):c.1533C>T (p.Pro511=)
|
rs143271849
|
0.00079
|
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met)
|
rs143728180
|
0.00078
|
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg)
|
rs139279977
|
0.00067
|
NM_015404.4(WHRN):c.2322C>T (p.Ser774=)
|
rs55966714
|
0.00062
|
NM_015404.4(WHRN):c.1455G>A (p.Pro485=)
|
rs141807746
|
0.00055
|
NM_015404.4(WHRN):c.1525C>G (p.Pro509Ala)
|
rs199867371
|
0.00054
|
NM_015404.4(WHRN):c.1075G>A (p.Val359Ile)
|
rs147500559
|
0.00053
|
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp)
|
rs146655362
|
0.00053
|
NM_015404.4(WHRN):c.2510G>A (p.Arg837His)
|
rs55749855
|
0.00053
|
NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn)
|
rs147283064
|
0.00052
|
NM_015404.4(WHRN):c.837+190A>G
|
rs116554365
|
0.00050
|
NM_015404.4(WHRN):c.2101G>C (p.Gly701Arg)
|
rs111373159
|
0.00047
|
NM_015404.4(WHRN):c.995G>A (p.Arg332Gln)
|
rs139193948
|
0.00045
|
NM_015404.4(WHRN):c.1161G>A (p.Ser387=)
|
rs201105262
|
0.00039
|
NM_015404.4(WHRN):c.1678G>A (p.Ala560Thr)
|
rs182072601
|
0.00039
|
NM_015404.4(WHRN):c.2417C>T (p.Pro806Leu)
|
rs149897775
|
0.00036
|
NM_015404.4(WHRN):c.1029C>A (p.Val343=)
|
rs151112714
|
0.00035
|
NM_015404.4(WHRN):c.1887G>A (p.Pro629=)
|
rs143443833
|
0.00035
|
NM_015404.4(WHRN):c.1568G>A (p.Ser523Asn)
|
rs140954343
|
0.00026
|
NM_015404.4(WHRN):c.2237-10C>G
|
rs200131193
|
0.00026
|
NM_015404.4(WHRN):c.2469G>A (p.Ala823=)
|
rs144207463
|
0.00026
|
NM_015404.4(WHRN):c.1608C>G (p.Thr536=)
|
rs139337135
|
0.00024
|
NM_015404.4(WHRN):c.1381A>C (p.Met461Leu)
|
rs144878400
|
0.00022
|
NM_015404.4(WHRN):c.2183G>A (p.Arg728His)
|
rs138767834
|
0.00021
|
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile)
|
rs201555289
|
0.00019
|
NM_015404.4(WHRN):c.2461A>C (p.Lys821Gln)
|
rs147387623
|
0.00016
|
NM_015404.4(WHRN):c.2060C>T (p.Pro687Leu)
|
rs534523640
|
0.00014
|
NM_015404.4(WHRN):c.1620G>T (p.Ser540=)
|
rs142855585
|
0.00013
|
NM_015404.4(WHRN):c.1893G>A (p.Ala631=)
|
rs147952299
|
0.00013
|
NM_015404.4(WHRN):c.900C>T (p.Tyr300=)
|
rs140268888
|
0.00012
|
NM_015404.4(WHRN):c.1017C>T (p.His339=)
|
rs375732074
|
0.00011
|
NM_015404.4(WHRN):c.1049G>A (p.Arg350Gln)
|
rs529362314
|
0.00011
|
NM_015404.4(WHRN):c.2061G>A (p.Pro687=)
|
rs142268865
|
0.00011
|
NM_015404.4(WHRN):c.2112G>T (p.Leu704=)
|
rs535492772
|
0.00011
|
NM_015404.4(WHRN):c.879G>A (p.Thr293=)
|
rs139337254
|
0.00011
|
NM_015404.4(WHRN):c.998G>A (p.Ser333Asn)
|
rs200073414
|
0.00011
|
NM_015404.4(WHRN):c.1625G>A (p.Arg542Lys)
|
rs200040563
|
0.00010
|
NM_015404.4(WHRN):c.1696G>C (p.Val566Leu)
|
rs189654215
|
0.00010
|
NM_015404.4(WHRN):c.1999G>A (p.Ala667Thr)
|
rs202161016
|
0.00010
|
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln)
|
rs143763650
|
0.00010
|
NM_015404.4(WHRN):c.2390A>G (p.Glu797Gly)
|
rs375820423
|
0.00010
|
NM_015404.4(WHRN):c.2571G>T (p.Gln857His)
|
rs776712642
|
0.00010
|
NM_015404.4(WHRN):c.409G>C (p.Glu137Gln)
|
rs41297175
|
0.00010
|
NM_015404.4(WHRN):c.1222C>A (p.Pro408Thr)
|
rs368241259
|
0.00009
|
NM_015404.4(WHRN):c.1575G>A (p.Thr525=)
|
rs147266255
|
0.00009
|
NM_015404.4(WHRN):c.1611C>T (p.Thr537=)
|
rs201280818
|
0.00009
|
NM_015404.4(WHRN):c.1699-14G>C
|
rs746633124
|
0.00009
|
NM_015404.4(WHRN):c.2690A>C (p.Asp897Ala)
|
rs781583583
|
0.00009
|
NM_015404.4(WHRN):c.1493G>A (p.Arg498His)
|
rs753082098
|
0.00008
|
NM_015404.4(WHRN):c.1681C>T (p.Leu561Phe)
|
rs899962077
|
0.00008
|
NM_015404.4(WHRN):c.1713C>T (p.Ser571=)
|
rs753605610
|
0.00008
|
NM_015404.4(WHRN):c.1938C>A (p.Pro646=)
|
rs144952955
|
0.00008
|
NM_015404.4(WHRN):c.2323G>A (p.Ala775Thr)
|
rs145782014
|
0.00008
|
NM_015404.4(WHRN):c.1348C>T (p.Arg450Cys)
|
rs373094583
|
0.00007
|
NM_015404.4(WHRN):c.1349G>A (p.Arg450His)
|
rs200377723
|
0.00007
|
NM_015404.4(WHRN):c.1716C>T (p.Thr572=)
|
rs760471578
|
0.00007
|
NM_015404.4(WHRN):c.2093T>A (p.Val698Glu)
|
rs201184915
|
0.00007
|
NM_015404.4(WHRN):c.1072G>A (p.Asp358Asn)
|
rs369521178
|
0.00006
|
NM_015404.4(WHRN):c.1331A>G (p.Tyr444Cys)
|
rs45530335
|
0.00006
|
NM_015404.4(WHRN):c.1597G>A (p.Gly533Ser)
|
rs752659496
|
0.00006
|
NM_015404.4(WHRN):c.1795C>T (p.Pro599Ser)
|
rs748473403
|
0.00006
|
NM_015404.4(WHRN):c.1808G>T (p.Gly603Val)
|
rs368141295
|
0.00006
|
NM_015404.4(WHRN):c.1879C>T (p.Arg627Cys)
|
rs373652923
|
0.00006
|
NM_015404.4(WHRN):c.1960G>A (p.Val654Ile)
|
rs572609043
|
0.00006
|
NM_015404.4(WHRN):c.1965C>T (p.Ser655=)
|
rs780418034
|
0.00006
|
NM_015404.4(WHRN):c.2250C>T (p.Leu750=)
|
rs766286407
|
0.00006
|
NM_015404.4(WHRN):c.2307C>T (p.Gly769=)
|
rs148971049
|
0.00006
|
NM_015404.4(WHRN):c.2499C>T (p.Gly833=)
|
rs755304293
|
0.00006
|
NM_015404.4(WHRN):c.255G>A (p.Pro85=)
|
rs372046806
|
0.00006
|
NM_015404.4(WHRN):c.2665A>G (p.Lys889Glu)
|
rs200354989
|
0.00006
|
NM_015404.4(WHRN):c.695A>C (p.His232Pro)
|
rs533374297
|
0.00006
|
NM_015404.4(WHRN):c.1228G>A (p.Gly410Ser)
|
rs745818473
|
0.00005
|
NM_015404.4(WHRN):c.1677C>T (p.Asn559=)
|
rs138127153
|
0.00005
|
NM_015404.4(WHRN):c.1886C>T (p.Pro629Leu)
|
rs752516364
|
0.00005
|
NM_015404.4(WHRN):c.1892C>T (p.Ala631Val)
|
rs141168514
|
0.00005
|
NM_015404.4(WHRN):c.1988G>A (p.Arg663Lys)
|
rs145308682
|
0.00005
|
NM_015404.4(WHRN):c.2418G>A (p.Pro806=)
|
rs373754936
|
0.00005
|
NM_015404.4(WHRN):c.2641G>A (p.Ala881Thr)
|
rs200551948
|
0.00005
|
NM_015404.4(WHRN):c.716C>T (p.Pro239Leu)
|
rs180882127
|
0.00005
|
NM_015404.4(WHRN):c.73G>T (p.Gly25Cys)
|
rs774198237
|
0.00005
|
NM_015404.4(WHRN):c.1125C>T (p.Ile375=)
|
rs565175361
|
0.00004
|
NM_015404.4(WHRN):c.1176C>T (p.Gly392=)
|
rs200276167
|
0.00004
|
NM_015404.4(WHRN):c.1193G>A (p.Gly398Glu)
|
rs201612708
|
0.00004
|
NM_015404.4(WHRN):c.1417-19C>G
|
rs780306772
|
0.00004
|
NM_015404.4(WHRN):c.1417-8G>A
|
rs202228471
|
0.00004
|
NM_015404.4(WHRN):c.1543G>A (p.Asp515Asn)
|
rs778064776
|
0.00004
|
NM_015404.4(WHRN):c.1554C>T (p.Ser518=)
|
rs752882310
|
0.00004
|
NM_015404.4(WHRN):c.1555A>G (p.Met519Val)
|
rs768008029
|
0.00004
|
NM_015404.4(WHRN):c.156G>A (p.Glu52=)
|
rs201025266
|
0.00004
|
NM_015404.4(WHRN):c.1626+8T>G
|
rs547616329
|
0.00004
|
NM_015404.4(WHRN):c.1699-10C>T
|
rs150534136
|
0.00004
|
NM_015404.4(WHRN):c.2073C>T (p.Ser691=)
|
rs768690928
|
0.00004
|
NM_015404.4(WHRN):c.2085G>A (p.Glu695=)
|
rs140043085
|
0.00004
|
NM_015404.4(WHRN):c.2193C>T (p.Ser731=)
|
rs147358257
|
0.00004
|
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile)
|
rs373552185
|
0.00004
|
NM_015404.4(WHRN):c.2246C>T (p.Thr749Met)
|
rs767100303
|
0.00004
|
NM_015404.4(WHRN):c.2474C>G (p.Thr825Ser)
|
rs200422759
|
0.00004
|
NM_015404.4(WHRN):c.2485G>A (p.Ala829Thr)
|
rs139597771
|
0.00004
|
NM_015404.4(WHRN):c.2540A>G (p.Gln847Arg)
|
rs545326842
|
0.00004
|
NM_015404.4(WHRN):c.2686A>G (p.Ile896Val)
|
rs756666810
|
0.00004
|
NM_015404.4(WHRN):c.350C>T (p.Pro117Leu)
|
rs772689669
|
0.00004
|
NM_015404.4(WHRN):c.498C>T (p.Ile166=)
|
rs370018667
|
0.00004
|
NM_015404.4(WHRN):c.606G>T (p.Ala202=)
|
rs551412674
|
0.00004
|
NM_015404.4(WHRN):c.724C>T (p.Arg242Cys)
|
rs372265292
|
0.00004
|
NM_015404.4(WHRN):c.743C>T (p.Ser248Leu)
|
rs141863996
|
0.00004
|
NM_015404.4(WHRN):c.763G>A (p.Gly255Ser)
|
rs375934001
|
0.00004
|
NM_015404.4(WHRN):c.793C>T (p.Arg265Trp)
|
rs373856120
|
0.00004
|
NM_015404.4(WHRN):c.933A>C (p.Pro311=)
|
rs569159249
|
0.00004
|
NM_015404.4(WHRN):c.958C>T (p.Leu320Phe)
|
rs780855079
|
0.00004
|
NM_015404.4(WHRN):c.1020C>T (p.Asp340=)
|
rs745837106
|
0.00003
|
NM_015404.4(WHRN):c.113A>G (p.Asn38Ser)
|
rs781494777
|
0.00003
|
NM_015404.4(WHRN):c.1417-9C>T
|
rs369486137
|
0.00003
|
NM_015404.4(WHRN):c.1473C>T (p.Phe491=)
|
rs886044241
|
0.00003
|
NM_015404.4(WHRN):c.1596C>T (p.His532=)
|
rs775240892
|
0.00003
|
NM_015404.4(WHRN):c.2044C>T (p.Arg682Trp)
|
rs753228548
|
0.00003
|
NM_015404.4(WHRN):c.2163T>C (p.Phe721=)
|
rs752026052
|
0.00003
|
NM_015404.4(WHRN):c.2182C>T (p.Arg728Cys)
|
rs371321396
|
0.00003
|
NM_015404.4(WHRN):c.2188G>A (p.Asp730Asn)
|
rs533697311
|
0.00003
|
NM_015404.4(WHRN):c.2237-8C>T
|
rs539923677
|
0.00003
|
NM_015404.4(WHRN):c.2261C>T (p.Ser754Leu)
|
rs768714315
|
0.00003
|
NM_015404.4(WHRN):c.2268C>T (p.Ser756=)
|
rs137977468
|
0.00003
|
NM_015404.4(WHRN):c.2345C>T (p.Ser782Leu)
|
rs372472927
|
0.00003
|
NM_015404.4(WHRN):c.2349G>A (p.Val783=)
|
rs771368811
|
0.00003
|
NM_015404.4(WHRN):c.2412C>T (p.Asn804=)
|
rs752996781
|
0.00003
|
NM_015404.4(WHRN):c.2652C>T (p.Ile884=)
|
rs1474851442
|
0.00003
|
NM_015404.4(WHRN):c.2653G>A (p.Ala885Thr)
|
rs143464875
|
0.00003
|
NM_015404.4(WHRN):c.35C>T (p.Ser12Leu)
|
rs760261757
|
0.00003
|
NM_015404.4(WHRN):c.44C>T (p.Thr15Ile)
|
rs727502957
|
0.00003
|
NM_015404.4(WHRN):c.533A>C (p.Glu178Ala)
|
rs745376483
|
0.00003
|
NM_015404.4(WHRN):c.592C>T (p.Arg198Trp)
|
rs377053825
|
0.00003
|
NM_015404.4(WHRN):c.762C>T (p.His254=)
|
rs201171374
|
0.00003
|
NM_015404.4(WHRN):c.827A>T (p.Asp276Val)
|
rs143202640
|
0.00003
|
NM_015404.4(WHRN):c.859G>A (p.Gly287Ser)
|
rs539341462
|
0.00003
|
NM_015404.4(WHRN):c.878C>T (p.Thr293Met)
|
rs373608204
|
0.00003
|
NM_015404.4(WHRN):c.990T>C (p.Asn330=)
|
rs774665932
|
0.00003
|
NM_015404.4(WHRN):c.1136G>A (p.Arg379Gln)
|
rs777759706
|
0.00002
|
NM_015404.4(WHRN):c.1166+7C>T
|
rs1043061213
|
0.00002
|
NM_015404.4(WHRN):c.1227C>T (p.Ala409=)
|
rs758129253
|
0.00002
|
NM_015404.4(WHRN):c.1360G>A (p.Val454Ile)
|
rs370178817
|
0.00002
|
NM_015404.4(WHRN):c.1372G>A (p.Ala458Thr)
|
rs769022650
|
0.00002
|
NM_015404.4(WHRN):c.139A>G (p.Thr47Ala)
|
rs556585167
|
0.00002
|
NM_015404.4(WHRN):c.1486C>T (p.Leu496=)
|
rs758197889
|
0.00002
|
NM_015404.4(WHRN):c.1514C>T (p.Ala505Val)
|
rs774765831
|
0.00002
|
NM_015404.4(WHRN):c.1517G>A (p.Arg506Gln)
|
rs371938756
|
0.00002
|
NM_015404.4(WHRN):c.1612G>A (p.Val538Ile)
|
rs781298298
|
0.00002
|
NM_015404.4(WHRN):c.1630A>G (p.Thr544Ala)
|
rs767294488
|
0.00002
|
NM_015404.4(WHRN):c.1712C>T (p.Ser571Phe)
|
rs200908854
|
0.00002
|
NM_015404.4(WHRN):c.1757C>T (p.Pro586Leu)
|
rs771542666
|
0.00002
|
NM_015404.4(WHRN):c.179A>G (p.His60Arg)
|
rs773260450
|
0.00002
|
NM_015404.4(WHRN):c.1853G>A (p.Gly618Asp)
|
rs200812302
|
0.00002
|
NM_015404.4(WHRN):c.1863_1865del (p.Phe621_Ser622delinsLeu)
|
rs757702620
|
0.00002
|
NM_015404.4(WHRN):c.1959C>T (p.Ser653=)
|
rs376355638
|
0.00002
|
NM_015404.4(WHRN):c.1991C>T (p.Pro664Leu)
|
rs749497671
|
0.00002
|
NM_015404.4(WHRN):c.2001C>A (p.Ala667=)
|
rs371767583
|
0.00002
|
NM_015404.4(WHRN):c.207C>T (p.Arg69=)
|
rs1226146050
|
0.00002
|
NM_015404.4(WHRN):c.2202C>T (p.Asp734=)
|
rs777975664
|
0.00002
|
NM_015404.4(WHRN):c.2234G>A (p.Arg745His)
|
rs555619169
|
0.00002
|
NM_015404.4(WHRN):c.2240C>A (p.Ala747Asp)
|
rs755883346
|
0.00002
|
NM_015404.4(WHRN):c.2259C>T (p.Leu753=)
|
rs776869555
|
0.00002
|
NM_015404.4(WHRN):c.2299G>T (p.Asp767Tyr)
|
rs200583397
|
0.00002
|
NM_015404.4(WHRN):c.2554G>A (p.Ala852Thr)
|
rs762342970
|
0.00002
|
NM_015404.4(WHRN):c.2645G>A (p.Arg882His)
|
rs760928525
|
0.00002
|
NM_015404.4(WHRN):c.2655C>T (p.Ala885=)
|
rs775402871
|
0.00002
|
NM_015404.4(WHRN):c.314T>C (p.Leu105Pro)
|
rs751083422
|
0.00002
|
NM_015404.4(WHRN):c.321C>A (p.Asp107Glu)
|
rs766238813
|
0.00002
|
NM_015404.4(WHRN):c.324A>G (p.Gln108=)
|
rs763014940
|
0.00002
|
NM_015404.4(WHRN):c.437C>T (p.Ala146Val)
|
rs778841607
|
0.00002
|
NM_015404.4(WHRN):c.49T>C (p.Ser17Pro)
|
rs918836104
|
0.00002
|
NM_015404.4(WHRN):c.508C>G (p.Leu170Val)
|
rs748546471
|
0.00002
|
NM_015404.4(WHRN):c.549G>A (p.Arg183=)
|
rs147477922
|
0.00002
|
NM_015404.4(WHRN):c.627G>A (p.Lys209=)
|
rs143079837
|
0.00002
|
NM_015404.4(WHRN):c.838-15C>G
|
rs769277233
|
0.00002
|
NM_015404.4(WHRN):c.862C>T (p.Arg288Trp)
|
rs777415661
|
0.00002
|
NM_015404.4(WHRN):c.863G>A (p.Arg288Gln)
|
rs377606858
|
0.00002
|
NM_015404.4(WHRN):c.99G>T (p.Arg33=)
|
rs1239459878
|
0.00002
|
NM_015404.4(WHRN):c.*37C>G
|
rs549195233
|
0.00001
|
NM_015404.4(WHRN):c.*51C>T
|
rs529176890
|
0.00001
|
NM_015404.4(WHRN):c.1006A>G (p.Asn336Asp)
|
rs1836861926
|
0.00001
|
NM_015404.4(WHRN):c.1074C>T (p.Asp358=)
|
rs922352240
|
0.00001
|
NM_015404.4(WHRN):c.1097G>A (p.Arg366His)
|
rs763238664
|
0.00001
|
NM_015404.4(WHRN):c.1111G>A (p.Glu371Lys)
|
rs760297351
|
0.00001
|
NM_015404.4(WHRN):c.1139T>C (p.Ile380Thr)
|
rs756328473
|
0.00001
|
NM_015404.4(WHRN):c.1154C>T (p.Ala385Val)
|
rs766869083
|
0.00001
|
NM_015404.4(WHRN):c.1155G>A (p.Ala385=)
|
rs758965209
|
0.00001
|
NM_015404.4(WHRN):c.1166G>A (p.Gly389Glu)
|
rs759109990
|
0.00001
|
NM_015404.4(WHRN):c.1192G>A (p.Gly398Arg)
|
rs1483589525
|
0.00001
|
NM_015404.4(WHRN):c.1239G>A (p.Val413=)
|
rs1444785631
|
0.00001
|
NM_015404.4(WHRN):c.1266A>G (p.Thr422=)
|
rs1246623266
|
0.00001
|
NM_015404.4(WHRN):c.1268G>A (p.Arg423Gln)
|
rs35003670
|
0.00001
|
NM_015404.4(WHRN):c.1278G>A (p.Leu426=)
|
rs774461811
|
0.00001
|
NM_015404.4(WHRN):c.1292G>A (p.Arg431Gln)
|
rs770481636
|
0.00001
|
NM_015404.4(WHRN):c.1306G>A (p.Glu436Lys)
|
rs757963300
|
0.00001
|
NM_015404.4(WHRN):c.1308G>A (p.Glu436=)
|
rs745473400
|
0.00001
|
NM_015404.4(WHRN):c.1317C>T (p.His439=)
|
rs756715564
|
0.00001
|
NM_015404.4(WHRN):c.1359C>T (p.Ser453=)
|
rs148677152
|
0.00001
|
NM_015404.4(WHRN):c.1378G>A (p.Val460Ile)
|
rs373389359
|
0.00001
|
NM_015404.4(WHRN):c.1385C>T (p.Ala462Val)
|
rs778565930
|
0.00001
|
NM_015404.4(WHRN):c.140C>T (p.Thr47Ile)
|
rs1282235356
|
0.00001
|
NM_015404.4(WHRN):c.1434G>A (p.Glu478=)
|
rs753918358
|
0.00001
|
NM_015404.4(WHRN):c.1468C>T (p.Arg490Cys)
|
rs769494605
|
0.00001
|
NM_015404.4(WHRN):c.1474G>A (p.Asp492Asn)
|
rs375229693
|
0.00001
|
NM_015404.4(WHRN):c.1516C>T (p.Arg506Trp)
|
rs1311654091
|
0.00001
|
NM_015404.4(WHRN):c.1534G>A (p.Gly512Arg)
|
rs368452983
|
0.00001
|
NM_015404.4(WHRN):c.153C>G (p.Ser51Arg)
|
rs753390670
|
0.00001
|
NM_015404.4(WHRN):c.1541G>A (p.Gly514Glu)
|
rs1233678073
|
0.00001
|
NM_015404.4(WHRN):c.1547C>T (p.Thr516Ile)
|
rs756090687
|
0.00001
|
NM_015404.4(WHRN):c.1578T>C (p.Gly526=)
|
rs111033438
|
0.00001
|
NM_015404.4(WHRN):c.1591A>C (p.Ser531Arg)
|
rs1217731688
|
0.00001
|
NM_015404.4(WHRN):c.1603T>C (p.Ser535Pro)
|
rs1292972674
|
0.00001
|
NM_015404.4(WHRN):c.1626+16C>A
|
rs1311465688
|
0.00001
|
NM_015404.4(WHRN):c.1632T>C (p.Thr544=)
|
rs759107735
|
0.00001
|
NM_015404.4(WHRN):c.1676A>G (p.Asn559Ser)
|
rs772432304
|
0.00001
|
NM_015404.4(WHRN):c.167A>G (p.Glu56Gly)
|
rs767351109
|
0.00001
|
NM_015404.4(WHRN):c.1698+8C>T
|
rs757877261
|
0.00001
|
NM_015404.4(WHRN):c.1750C>T (p.Arg584Cys)
|
rs551155761
|
0.00001
|
NM_015404.4(WHRN):c.1751G>A (p.Arg584His)
|
rs372230625
|
0.00001
|
NM_015404.4(WHRN):c.1776C>T (p.Asn592=)
|
rs749765866
|
0.00001
|
NM_015404.4(WHRN):c.1784C>A (p.Pro595Gln)
|
rs1287573798
|
0.00001
|
NM_015404.4(WHRN):c.1810A>G (p.Arg604Gly)
|
rs373975842
|
0.00001
|
NM_015404.4(WHRN):c.1865C>T (p.Ser622Leu)
|
rs745460020
|
0.00001
|
NM_015404.4(WHRN):c.1903C>T (p.Pro635Ser)
|
rs1225086825
|
0.00001
|
NM_015404.4(WHRN):c.1909C>A (p.Pro637Thr)
|
rs750597763
|
0.00001
|
NM_015404.4(WHRN):c.190G>T (p.Ala64Ser)
|
rs1373938113
|
0.00001
|
NM_015404.4(WHRN):c.192T>C (p.Ala64=)
|
rs1312082449
|
0.00001
|
NM_015404.4(WHRN):c.1969G>C (p.Ala657Pro)
|
rs758733083
|
0.00001
|
NM_015404.4(WHRN):c.1998C>T (p.Asp666=)
|
rs368299838
|
0.00001
|
NM_015404.4(WHRN):c.2031C>T (p.Ile677=)
|
rs576364705
|
0.00001
|
NM_015404.4(WHRN):c.2032G>A (p.Gly678Ser)
|
rs200037348
|
0.00001
|
NM_015404.4(WHRN):c.2054C>T (p.Ser685Leu)
|
rs1370011915
|
0.00001
|
NM_015404.4(WHRN):c.2056C>A (p.Pro686Thr)
|
rs201690920
|
0.00001
|
NM_015404.4(WHRN):c.2072G>A (p.Ser691Asn)
|
rs1314831998
|
0.00001
|
NM_015404.4(WHRN):c.2115C>T (p.Pro705=)
|
rs373760153
|
0.00001
|
NM_015404.4(WHRN):c.2118A>G (p.Pro706=)
|
rs756217407
|
0.00001
|
NM_015404.4(WHRN):c.2189A>G (p.Asp730Gly)
|
rs772190770
|
0.00001
|
NM_015404.4(WHRN):c.2207A>G (p.Asn736Ser)
|
rs1418671868
|
0.00001
|
NM_015404.4(WHRN):c.2219C>T (p.Ala740Val)
|
rs976736112
|
0.00001
|
NM_015404.4(WHRN):c.2231C>T (p.Thr744Met)
|
rs751846994
|
0.00001
|
NM_015404.4(WHRN):c.2233C>T (p.Arg745Cys)
|
rs760384450
|
0.00001
|
NM_015404.4(WHRN):c.2236+18A>T
|
rs752298678
|
0.00001
|
NM_015404.4(WHRN):c.2237-20C>T
|
rs1164145416
|
0.00001
|
NM_015404.4(WHRN):c.2247G>A (p.Thr749=)
|
rs143997286
|
0.00001
|
NM_015404.4(WHRN):c.2284G>A (p.Glu762Lys)
|
rs757731586
|
0.00001
|
NM_015404.4(WHRN):c.2308G>A (p.Glu770Lys)
|
rs750380719
|
0.00001
|
NM_015404.4(WHRN):c.2340G>T (p.Arg780Ser)
|
rs935520648
|
0.00001
|
NM_015404.4(WHRN):c.2343G>A (p.Gln781=)
|
rs1302919018
|
0.00001
|
NM_015404.4(WHRN):c.2383C>T (p.Arg795Trp)
|
rs545286422
|
0.00001
|
NM_015404.4(WHRN):c.2389G>A (p.Glu797Lys)
|
rs753642608
|
0.00001
|
NM_015404.4(WHRN):c.2419C>G (p.Pro807Ala)
|
rs569112844
|
0.00001
|
NM_015404.4(WHRN):c.2453G>A (p.Arg818His)
|
rs762248099
|
0.00001
|
NM_015404.4(WHRN):c.2484C>T (p.Ile828=)
|
rs777780045
|
0.00001
|
NM_015404.4(WHRN):c.2490C>T (p.Ile830=)
|
rs1439979867
|
0.00001
|
NM_015404.4(WHRN):c.2541+3A>G
|
rs1243315918
|
0.00001
|
NM_015404.4(WHRN):c.2548G>A (p.Gly850Ser)
|
rs766123228
|
0.00001
|
NM_015404.4(WHRN):c.2567G>T (p.Gly856Val)
|
rs371373433
|
0.00001
|
NM_015404.4(WHRN):c.2611A>G (p.Thr871Ala)
|
rs779001003
|
0.00001
|
NM_015404.4(WHRN):c.2617C>T (p.Arg873Trp)
|
rs267602096
|
0.00001
|
NM_015404.4(WHRN):c.2633G>A (p.Arg878Gln)
|
rs138731082
|
0.00001
|
NM_015404.4(WHRN):c.2640C>T (p.Ala880=)
|
rs1164818851
|
0.00001
|
NM_015404.4(WHRN):c.2656G>A (p.Glu886Lys)
|
rs920350403
|
0.00001
|
NM_015404.4(WHRN):c.2673G>C (p.Lys891Asn)
|
rs1834766525
|
0.00001
|
NM_015404.4(WHRN):c.2678G>A (p.Arg893His)
|
rs773620841
|
0.00001
|
NM_015404.4(WHRN):c.26C>T (p.Ser9Leu)
|
rs776268964
|
0.00001
|
NM_015404.4(WHRN):c.277A>T (p.Met93Leu)
|
rs1428144829
|
0.00001
|
NM_015404.4(WHRN):c.318C>A (p.Phe106Leu)
|
rs1218681189
|
0.00001
|
NM_015404.4(WHRN):c.360C>T (p.Thr120=)
|
rs749635819
|
0.00001
|
NM_015404.4(WHRN):c.368G>A (p.Arg123Lys)
|
rs1844213480
|
0.00001
|
NM_015404.4(WHRN):c.376G>A (p.Ala126Thr)
|
rs1444564272
|
0.00001
|
NM_015404.4(WHRN):c.387C>T (p.Gly129=)
|
rs758249538
|
0.00001
|
NM_015404.4(WHRN):c.390C>A (p.Pro130=)
|
rs186148643
|
0.00001
|
NM_015404.4(WHRN):c.435T>A (p.Arg145=)
|
rs745394370
|
0.00001
|
NM_015404.4(WHRN):c.553G>A (p.Gly185Arg)
|
rs755922335
|
0.00001
|
NM_015404.4(WHRN):c.559C>T (p.Gln187Ter)
|
rs1230382008
|
0.00001
|
NM_015404.4(WHRN):c.585C>T (p.Ser195=)
|
rs565202482
|
0.00001
|
NM_015404.4(WHRN):c.596T>G (p.Val199Gly)
|
rs750894411
|
0.00001
|
NM_015404.4(WHRN):c.599C>T (p.Thr200Ile)
|
rs765757659
|
0.00001
|
NM_015404.4(WHRN):c.618+18A>G
|
rs1474860451
|
0.00001
|
NM_015404.4(WHRN):c.634A>G (p.Lys212Glu)
|
rs769843003
|
0.00001
|
NM_015404.4(WHRN):c.643G>A (p.Val215Met)
|
rs375459436
|
0.00001
|
NM_015404.4(WHRN):c.664G>A (p.Gly222Arg)
|
rs1841867800
|
0.00001
|
NM_015404.4(WHRN):c.684C>T (p.Tyr228=)
|
rs377363590
|
0.00001
|
NM_015404.4(WHRN):c.690C>T (p.Thr230=)
|
rs779112096
|
0.00001
|
NM_015404.4(WHRN):c.703A>G (p.Thr235Ala)
|
rs754256328
|
0.00001
|
NM_015404.4(WHRN):c.725G>A (p.Arg242His)
|
rs727505127
|
0.00001
|
NM_015404.4(WHRN):c.729C>T (p.Ser243=)
|
rs1428346203
|
0.00001
|
NM_015404.4(WHRN):c.735C>T (p.Ser245=)
|
rs1418229557
|
0.00001
|
NM_015404.4(WHRN):c.792C>T (p.Asp264=)
|
rs1589229419
|
0.00001
|
NM_015404.4(WHRN):c.802A>G (p.Thr268Ala)
|
rs1413974305
|
0.00001
|
NM_015404.4(WHRN):c.837+9G>A
|
rs1032547196
|
0.00001
|
NM_015404.4(WHRN):c.856G>A (p.Asp286Asn)
|
rs1840694003
|
0.00001
|
NM_015404.4(WHRN):c.858C>T (p.Asp286=)
|
rs772431008
|
0.00001
|
NM_015404.4(WHRN):c.886G>A (p.Gly296Arg)
|
rs748878766
|
0.00001
|
NM_015404.4(WHRN):c.901G>A (p.Gly301Ser)
|
rs1226455178
|
0.00001
|
NM_015404.4(WHRN):c.945A>G (p.Ala315=)
|
rs772458908
|
0.00001
|
NM_015404.4(WHRN):c.963+11G>C
|
rs1295366771
|
0.00001
|
NC_000009.12:g.114505662G>T
|
rs10817631
|
|
NM_015404.4(WHRN):c.-608_-601del
|
rs150944893
|
|
NM_015404.4(WHRN):c.1005C>T (p.Leu335=)
|
|
|
NM_015404.4(WHRN):c.1008C>T (p.Asn336=)
|
rs2132408391
|
|
NM_015404.4(WHRN):c.1017C>G (p.His339Gln)
|
rs375732074
|
|
NM_015404.4(WHRN):c.1024G>T (p.Ala342Ser)
|
rs1269773796
|
|
NM_015404.4(WHRN):c.1025C>T (p.Ala342Val)
|
rs2132407937
|
|
NM_015404.4(WHRN):c.1040A>T (p.Lys347Met)
|
rs1564139980
|
|
NM_015404.4(WHRN):c.1054C>G (p.Leu352Val)
|
rs1836855238
|
|
NM_015404.4(WHRN):c.1054C>T (p.Leu352Phe)
|
rs1836855238
|
|
NM_015404.4(WHRN):c.1080G>C (p.Gly360=)
|
rs2132406880
|
|
NM_015404.4(WHRN):c.108T>C (p.Ser36=)
|
|
|
NM_015404.4(WHRN):c.1096C>G (p.Arg366Gly)
|
rs530868944
|
|
NM_015404.4(WHRN):c.1096C>T (p.Arg366Cys)
|
|
|
NM_015404.4(WHRN):c.1110C>T (p.Asp370=)
|
|
|
NM_015404.4(WHRN):c.1126G>A (p.Ala376Thr)
|
rs545251395
|
|
NM_015404.4(WHRN):c.1126G>T (p.Ala376Ser)
|
rs545251395
|
|
NM_015404.4(WHRN):c.1128C>T (p.Ala376=)
|
rs1202342697
|
|
NM_015404.4(WHRN):c.112A>G (p.Asn38Asp)
|
|
|
NM_015404.4(WHRN):c.1143G>C (p.Arg381Ser)
|
rs748279121
|
|
NM_015404.4(WHRN):c.1162G>A (p.Ala388Thr)
|
|
|
NM_015404.4(WHRN):c.1164A>C (p.Ala388=)
|
rs1181065976
|
|
NM_015404.4(WHRN):c.1166+17C>T
|
|
|
NM_015404.4(WHRN):c.1167-18G>A
|
|
|
NM_015404.4(WHRN):c.1167-265C>A
|
rs2274162
|
|
NM_015404.4(WHRN):c.1177G>A (p.Asp393Asn)
|
rs138164522
|
|
NM_015404.4(WHRN):c.1177G>C (p.Asp393His)
|
|
|
NM_015404.4(WHRN):c.1177G>T (p.Asp393Tyr)
|
|
|
NM_015404.4(WHRN):c.1199A>G (p.Asn400Ser)
|
rs2132385900
|
|
NM_015404.4(WHRN):c.1203+13C>G
|
|
|
NM_015404.4(WHRN):c.1203+13C>T
|
|
|
NM_015404.4(WHRN):c.1203+20G>A
|
|
|
NM_015404.4(WHRN):c.1203+2T>C
|
|
|
NM_015404.4(WHRN):c.1203+8A>G
|
|
|
NM_015404.4(WHRN):c.1204-19C>G
|
rs1176057337
|
|
NM_015404.4(WHRN):c.1231T>G (p.Ser411Ala)
|
rs2132378594
|
|
NM_015404.4(WHRN):c.1232C>T (p.Ser411Phe)
|
rs1836632084
|
|
NM_015404.4(WHRN):c.1238T>A (p.Val413Glu)
|
rs1836631124
|
|
NM_015404.4(WHRN):c.1265dup (p.Arg423fs)
|
|
|
NM_015404.4(WHRN):c.1312del (p.Glu438fs)
|
rs2132376874
|
|
NM_015404.4(WHRN):c.1317_1318delinsTA (p.Ala440Thr)
|
rs2132376652
|
|
NM_015404.4(WHRN):c.131A>G (p.Gln44Arg)
|
rs766912207
|
|
NM_015404.4(WHRN):c.1320C>A (p.Ala440=)
|
rs2132376529
|
|
NM_015404.4(WHRN):c.1325T>C (p.Met442Thr)
|
|
|
NM_015404.4(WHRN):c.1329C>T (p.Ala443=)
|
|
|
NM_015404.4(WHRN):c.1334A>G (p.Tyr445Cys)
|
rs777908643
|
|
NM_015404.4(WHRN):c.1348C>A (p.Arg450Ser)
|
rs373094583
|
|
NM_015404.4(WHRN):c.1352_1353inv (p.Gly451Asp)
|
|
|
NM_015404.4(WHRN):c.1365T>G (p.Ser455=)
|
|
|
NM_015404.4(WHRN):c.136C>T (p.Leu46=)
|
|
|
NM_015404.4(WHRN):c.1371G>A (p.Glu457=)
|
|
|
NM_015404.4(WHRN):c.1374C>G (p.Ala458=)
|
|
|
NM_015404.4(WHRN):c.1377C>T (p.Leu459=)
|
|
|
NM_015404.4(WHRN):c.1381A>G (p.Met461Val)
|
|
|
NM_015404.4(WHRN):c.1389G>T (p.Leu463=)
|
rs748769354
|
|
NM_015404.4(WHRN):c.1398G>A (p.Leu466=)
|
|
|
NM_015404.4(WHRN):c.1410C>T (p.His470=)
|
|
|
NM_015404.4(WHRN):c.1411G>A (p.Ala471Thr)
|
rs1589107090
|
|
NM_015404.4(WHRN):c.1413C>T (p.Ala471=)
|
rs2132374147
|
|
NM_015404.4(WHRN):c.1416+13C>G
|
|
|
NM_015404.4(WHRN):c.1416+15G>T
|
rs763305432
|
|
NM_015404.4(WHRN):c.1417-1G>A
|
rs779760634
|
|
NM_015404.4(WHRN):c.1417-3C>T
|
|
|
NM_015404.4(WHRN):c.1417-8G>C
|
|
|
NM_015404.4(WHRN):c.141C>A (p.Thr47=)
|
|
|
NM_015404.4(WHRN):c.1423C>T (p.Leu475Phe)
|
rs1156730577
|
|
NM_015404.4(WHRN):c.1432G>A (p.Glu478Lys)
|
|
|
NM_015404.4(WHRN):c.1435G>A (p.Val479Met)
|
|
|
NM_015404.4(WHRN):c.143C>T (p.Ala48Val)
|
rs1844248272
|
|
NM_015404.4(WHRN):c.1440A>G (p.Arg480=)
|
rs2132360865
|
|
NM_015404.4(WHRN):c.1446C>T (p.Thr482=)
|
|
|
NM_015404.4(WHRN):c.1449T>A (p.Ile483=)
|
rs2132360713
|
|
NM_015404.4(WHRN):c.1453C>T (p.Pro485Ser)
|
rs1836509946
|
|
NM_015404.4(WHRN):c.1465G>A (p.Glu489Lys)
|
|
|
NM_015404.4(WHRN):c.1466A>G (p.Glu489Gly)
|
|
|
NM_015404.4(WHRN):c.1469G>A (p.Arg490His)
|
rs587776360
|
|
NM_015404.4(WHRN):c.1482G>T (p.Leu494=)
|
rs199930051
|
|
NM_015404.4(WHRN):c.1488G>A (p.Leu496=)
|
rs2132359602
|
|
NM_015404.4(WHRN):c.1491G>C (p.Arg497Ser)
|
rs558895210
|
|
NM_015404.4(WHRN):c.1491G>T (p.Arg497Ser)
|
|
|
NM_015404.4(WHRN):c.1507A>C (p.Met503Leu)
|
rs201138894
|
|
NM_015404.4(WHRN):c.1507A>G (p.Met503Val)
|
rs201138894
|
|
NM_015404.4(WHRN):c.1519C>T (p.Gln507Ter)
|
|
|
NM_015404.4(WHRN):c.1520A>T (p.Gln507Leu)
|
|
|
NM_015404.4(WHRN):c.1523C>T (p.Pro508Leu)
|
|
|
NM_015404.4(WHRN):c.1527A>G (p.Pro509=)
|
|
|
NM_015404.4(WHRN):c.1537G>C (p.Ala513Pro)
|
|
|
NM_015404.4(WHRN):c.1537G>T (p.Ala513Ser)
|
rs749433283
|
|
NM_015404.4(WHRN):c.154G>T (p.Glu52Ter)
|
|
|
NM_015404.4(WHRN):c.1560C>G (p.Val520=)
|
rs2132357579
|
|
NM_015404.4(WHRN):c.1562C>T (p.Ser521Phe)
|
|
|
NM_015404.4(WHRN):c.1563del (p.Tyr522fs)
|
|
|
NM_015404.4(WHRN):c.1565A>C (p.Tyr522Ser)
|
rs755519779
|
|
NM_015404.4(WHRN):c.1565A>G (p.Tyr522Cys)
|
|
|
NM_015404.4(WHRN):c.1566C>T (p.Tyr522=)
|
|
|
NM_015404.4(WHRN):c.1573_1574del (p.Thr525fs)
|
rs2132357300
|
|
NM_015404.4(WHRN):c.1574C>T (p.Thr525Met)
|
|
|
NM_015404.4(WHRN):c.1577G>C (p.Gly526Ala)
|
|
|
NM_015404.4(WHRN):c.1577G>T (p.Gly526Val)
|
|
|
NM_015404.4(WHRN):c.157_166del (p.Ala53fs)
|
rs2133482258
|
|
NM_015404.4(WHRN):c.1586C>T (p.Thr529Ile)
|
|
|
NM_015404.4(WHRN):c.1598G>T (p.Gly533Val)
|
rs772100554
|
|
NM_015404.4(WHRN):c.1612G>C (p.Val538Leu)
|
rs781298298
|
|
NM_015404.4(WHRN):c.1619C>T (p.Ser540Leu)
|
|
|
NM_015404.4(WHRN):c.1620G>A (p.Ser540=)
|
rs142855585
|
|
NM_015404.4(WHRN):c.1625G>C (p.Arg542Thr)
|
|
|
NM_015404.4(WHRN):c.1626+287del
|
rs370330247
|
|
NM_015404.4(WHRN):c.1627-10C>A
|
|
|
NM_015404.4(WHRN):c.1627-13C>T
|
|
|
NM_015404.4(WHRN):c.1627-868_2312del
|
|
|
NM_015404.4(WHRN):c.1627A>G (p.Asn543Asp)
|
rs2132222713
|
|
NM_015404.4(WHRN):c.1629C>T (p.Asn543=)
|
|
|
NM_015404.4(WHRN):c.1649C>G (p.Thr550Ser)
|
|
|
NM_015404.4(WHRN):c.164G>C (p.Arg55Pro)
|
rs775066754
|
|
NM_015404.4(WHRN):c.1653C>A (p.Gly551=)
|
|
|
NM_015404.4(WHRN):c.1653C>T (p.Gly551=)
|
rs149352129
|
|
NM_015404.4(WHRN):c.1662C>A (p.Val554=)
|
rs2132222332
|
|
NM_015404.4(WHRN):c.1670A>G (p.Asn557Ser)
|
rs1402399400
|
|
NM_015404.4(WHRN):c.1675A>C (p.Asn559His)
|
|
|
NM_015404.4(WHRN):c.1687G>C (p.Asp563His)
|
rs1476809484
|
|
NM_015404.4(WHRN):c.1688_1690del (p.Asp563del)
|
rs1835155734
|
|
NM_015404.4(WHRN):c.168G>A (p.Glu56=)
|
|
|
NM_015404.4(WHRN):c.1695C>G (p.Ser565=)
|
|
|
NM_015404.4(WHRN):c.1696G>A (p.Val566Met)
|
rs189654215
|
|
NM_015404.4(WHRN):c.1698+253_1698+254insTGACTT
|
rs56699228
|
|
NM_015404.4(WHRN):c.1698G>A (p.Val566=)
|
rs765864891
|
|
NM_015404.4(WHRN):c.1699-17G>C
|
|
|
NM_015404.4(WHRN):c.171G>A (p.Gln57=)
|
rs578204125
|
|
NM_015404.4(WHRN):c.1724G>T (p.Gly575Val)
|
|
|
NM_015404.4(WHRN):c.172T>C (p.Phe58Leu)
|
|
|
NM_015404.4(WHRN):c.1755A>C (p.Pro585=)
|
rs1589065401
|
|
NM_015404.4(WHRN):c.1766C>T (p.Ala589Val)
|
rs1835071299
|
|
NM_015404.4(WHRN):c.1777G>T (p.Asp593Tyr)
|
|
|
NM_015404.4(WHRN):c.1781T>C (p.Leu594Pro)
|
rs1589065297
|
|
NM_015404.4(WHRN):c.1786C>T (p.Leu596=)
|
rs943711317
|
|
NM_015404.4(WHRN):c.1803G>A (p.Lys601=)
|
|
|
NM_015404.4(WHRN):c.180C>T (p.His60=)
|
rs2133481932
|
|
NM_015404.4(WHRN):c.1822C>T (p.Gln608Ter)
|
rs1049970703
|
|
NM_015404.4(WHRN):c.1831T>A (p.Ser611Thr)
|
rs2132213090
|
|
NM_015404.4(WHRN):c.1850C>G (p.Ser617Trp)
|
rs150146590
|
|
NM_015404.4(WHRN):c.1850C>T (p.Ser617Leu)
|
rs150146590
|
|
NM_015404.4(WHRN):c.1860C>T (p.Val620=)
|
rs545711776
|
|
NM_015404.4(WHRN):c.1868C>A (p.Ala623Asp)
|
|
|
NM_015404.4(WHRN):c.1880G>A (p.Arg627His)
|
|
|
NM_015404.4(WHRN):c.1880G>T (p.Arg627Leu)
|
rs191854666
|
|
NM_015404.4(WHRN):c.1890A>G (p.Pro630=)
|
|
|
NM_015404.4(WHRN):c.1917C>T (p.Thr639=)
|
rs765742359
|
|
NM_015404.4(WHRN):c.1922C>G (p.Ser641Cys)
|
|
|
NM_015404.4(WHRN):c.1928A>T (p.Gln643Leu)
|
|
|
NM_015404.4(WHRN):c.1930G>A (p.Asp644Asn)
|
rs201707482
|
|
NM_015404.4(WHRN):c.1930G>C (p.Asp644His)
|
rs201707482
|
|
NM_015404.4(WHRN):c.1936C>T (p.Pro646Ser)
|
|
|
NM_015404.4(WHRN):c.1939T>C (p.Ser647Pro)
|
rs2132211748
|
|
NM_015404.4(WHRN):c.1958C>G (p.Ser653Cys)
|
|
|
NM_015404.4(WHRN):c.1958_1959dup (p.Val654fs)
|
rs2132211574
|
|
NM_015404.4(WHRN):c.1966C>T (p.Pro656Ser)
|
rs1835051594
|
|
NM_015404.4(WHRN):c.1975C>T (p.Pro659Ser)
|
|
|
NM_015404.4(WHRN):c.1977C>T (p.Pro659=)
|
|
|
NM_015404.4(WHRN):c.1979G>A (p.Ser660Asn)
|
rs1835050062
|
|
NM_015404.4(WHRN):c.2000C>T (p.Ala667Val)
|
rs765997191
|
|
NM_015404.4(WHRN):c.2009C>T (p.Ala670Val)
|
rs1378146164
|
|
NM_015404.4(WHRN):c.2010C>G (p.Ala670=)
|
rs1177624878
|
|
NM_015404.4(WHRN):c.2010C>T (p.Ala670=)
|
rs1177624878
|
|
NM_015404.4(WHRN):c.2018A>G (p.Asn673Ser)
|
|
|
NM_015404.4(WHRN):c.2025C>T (p.His675=)
|
|
|
NM_015404.4(WHRN):c.2037C>T (p.Pro679=)
|
|
|
NM_015404.4(WHRN):c.2045G>A (p.Arg682Gln)
|
|
|
NM_015404.4(WHRN):c.2045G>C (p.Arg682Pro)
|
rs759899337
|
|
NM_015404.4(WHRN):c.2045G>T (p.Arg682Leu)
|
|
|
NM_015404.4(WHRN):c.2062C>T (p.His688Tyr)
|
rs957399804
|
|
NM_015404.4(WHRN):c.2065C>G (p.Leu689Val)
|
|
|
NM_015404.4(WHRN):c.2070A>G (p.Lys690=)
|
rs1835039919
|
|
NM_015404.4(WHRN):c.2074C>A (p.Pro692Thr)
|
rs1835039409
|
|
NM_015404.4(WHRN):c.209del (p.Asn70fs)
|
rs1844239683
|
|
NM_015404.4(WHRN):c.2100G>C (p.Gly700=)
|
rs1220942085
|
|
NM_015404.4(WHRN):c.2102G>A (p.Gly701Asp)
|
|
|
NM_015404.4(WHRN):c.2118_2121del (p.Ser707fs)
|
|
|
NM_015404.4(WHRN):c.2137G>C (p.Asp713His)
|
|
|
NM_015404.4(WHRN):c.2139C>T (p.Asp713=)
|
rs2132209625
|
|
NM_015404.4(WHRN):c.2173G>A (p.Glu725Lys)
|
rs376805417
|
|
NM_015404.4(WHRN):c.2187del (p.Asp730fs)
|
rs1835030174
|
|
NM_015404.4(WHRN):c.2194G>A (p.Glu732Lys)
|
rs142857132
|
|
NM_015404.4(WHRN):c.219C>G (p.Asp73Glu)
|
rs1321762587
|
|
NM_015404.4(WHRN):c.219C>T (p.Asp73=)
|
rs1321762587
|
|
NM_015404.4(WHRN):c.2208T>C (p.Asn736=)
|
rs2132209014
|
|
NM_015404.4(WHRN):c.2220G>A (p.Ala740=)
|
|
|
NM_015404.4(WHRN):c.2220G>T (p.Ala740=)
|
|
|
NM_015404.4(WHRN):c.2223G>C (p.Leu741=)
|
|
|
NM_015404.4(WHRN):c.2225C>T (p.Pro742Leu)
|
|
|
NM_015404.4(WHRN):c.2232G>A (p.Thr744=)
|
|
|
NM_015404.4(WHRN):c.2234G>C (p.Arg745Pro)
|
|
|
NM_015404.4(WHRN):c.2236+13A>C
|
rs2132208650
|
|
NM_015404.4(WHRN):c.2236+17C>T
|
rs2132208584
|
|
NM_015404.4(WHRN):c.2236+6T>A
|
rs1835024592
|
|
NM_015404.4(WHRN):c.2236+84G>T
|
rs10982200
|
|
NM_015404.4(WHRN):c.2237-15T>C
|
rs1834861281
|
|
NM_015404.4(WHRN):c.2237-16del
|
|
|
NM_015404.4(WHRN):c.2237-17C>G
|
rs758727396
|
|
NM_015404.4(WHRN):c.2237-17C>T
|
|
|
NM_015404.4(WHRN):c.2237-9C>A
|
|
|
NM_015404.4(WHRN):c.2262G>A (p.Ser754=)
|
|
|
NM_015404.4(WHRN):c.2269G>A (p.Gly757Arg)
|
|
|
NM_015404.4(WHRN):c.2274G>C (p.Gln758His)
|
rs1466978390
|
|
NM_015404.4(WHRN):c.2277T>G (p.Thr759=)
|
rs955966679
|
|
NM_015404.4(WHRN):c.2281A>G (p.Ser761Gly)
|
rs2132191257
|
|
NM_015404.4(WHRN):c.228C>T (p.Arg76=)
|
|
|
NM_015404.4(WHRN):c.2290A>G (p.Ser764Gly)
|
rs1834853946
|
|
NM_015404.4(WHRN):c.2291G>A (p.Ser764Asn)
|
rs1319848263
|
|
NM_015404.4(WHRN):c.2304T>C (p.Ala768=)
|
|
|
NM_015404.4(WHRN):c.2309A>T (p.Glu770Val)
|
rs1168947739
|
|
NM_015404.4(WHRN):c.2314G>A (p.Glu772Lys)
|
|
|
NM_015404.4(WHRN):c.231C>T (p.Thr77=)
|
rs752135647
|
|
NM_015404.4(WHRN):c.2332C>T (p.Arg778Ter)
|
rs137852839
|
|
NM_015404.4(WHRN):c.2333G>A (p.Arg778Gln)
|
rs727505188
|
|
NM_015404.4(WHRN):c.2341C>G (p.Gln781Glu)
|
|
|
NM_015404.4(WHRN):c.2346G>A (p.Ser782=)
|
rs145815879
|
|
NM_015404.4(WHRN):c.2346G>T (p.Ser782=)
|
|
|
NM_015404.4(WHRN):c.2348T>A (p.Val783Glu)
|
rs2274159
|
|
NM_015404.4(WHRN):c.2348_2349inv (p.Val783Ala)
|
|
|
NM_015404.4(WHRN):c.2351C>G (p.Ser784Cys)
|
|
|
NM_015404.4(WHRN):c.2355C>T (p.Thr785=)
|
rs1589058523
|
|
NM_015404.4(WHRN):c.2377C>G (p.Leu793Val)
|
|
|
NM_015404.4(WHRN):c.2379G>A (p.Leu793=)
|
|
|
NM_015404.4(WHRN):c.2388C>T (p.Asn796=)
|
rs2274158
|
|
NM_015404.4(WHRN):c.2394G>A (p.Arg798=)
|
|
|
NM_015404.4(WHRN):c.2397C>T (p.Pro799=)
|
|
|
NM_015404.4(WHRN):c.2399C>T (p.Thr800Ile)
|
|
|
NM_015404.4(WHRN):c.2410A>C (p.Asn804His)
|
rs1834841769
|
|
NM_015404.4(WHRN):c.2418+11_2418+12dup
|
|
|
NM_015404.4(WHRN):c.2418+14A>G
|
|
|
NM_015404.4(WHRN):c.2418+17A>C
|
rs2132189654
|
|
NM_015404.4(WHRN):c.2419-18C>T
|
rs1834804965
|
|
NM_015404.4(WHRN):c.2429T>C (p.Leu810Pro)
|
|
|
NM_015404.4(WHRN):c.2448G>A (p.Leu816=)
|
rs1834802444
|
|
NM_015404.4(WHRN):c.2451C>T (p.Val817=)
|
|
|
NM_015404.4(WHRN):c.2457G>A (p.Val819=)
|
rs2132185657
|
|
NM_015404.4(WHRN):c.2476C>T (p.Leu826=)
|
|
|
NM_015404.4(WHRN):c.2485G>T (p.Ala829Ser)
|
rs139597771
|
|
NM_015404.4(WHRN):c.2491G>A (p.Glu831Lys)
|
|
|
NM_015404.4(WHRN):c.2492A>G (p.Glu831Gly)
|
rs781538079
|
|
NM_015404.4(WHRN):c.2514_2515delinsTT (p.Gln838_Pro839delinsHisSer)
|
rs2132185121
|
|
NM_015404.4(WHRN):c.252T>G (p.Ser84Arg)
|
rs1274920421
|
|
NM_015404.4(WHRN):c.2541+13G>A
|
rs985879604
|
|
NM_015404.4(WHRN):c.2541+13G>C
|
rs985879604
|
|
NM_015404.4(WHRN):c.2541+15G>T
|
|
|
NM_015404.4(WHRN):c.2541+16C>T
|
|
|
NM_015404.4(WHRN):c.2541+17C>T
|
|
|
NM_015404.4(WHRN):c.2542-15G>T
|
|
|
NM_015404.4(WHRN):c.2542-8C>G
|
|
|
NM_015404.4(WHRN):c.2547C>T (p.Gly849=)
|
rs751201674
|
|
NM_015404.4(WHRN):c.2556T>C (p.Ala852=)
|
rs2132183000
|
|
NM_015404.4(WHRN):c.255G>C (p.Pro85=)
|
rs372046806
|
|
NM_015404.4(WHRN):c.2562C>A (p.Asn854Lys)
|
rs772831300
|
|
NM_015404.4(WHRN):c.257T>C (p.Val86Ala)
|
|
|
NM_015404.4(WHRN):c.2582G>A (p.Gly861Asp)
|
|
|
NM_015404.4(WHRN):c.258C>T (p.Val86=)
|
|
|
NM_015404.4(WHRN):c.2613G>A (p.Thr871=)
|
|
|
NM_015404.4(WHRN):c.2613G>T (p.Thr871=)
|
|
|
NM_015404.4(WHRN):c.2616T>G (p.Leu872=)
|
rs144559047
|
|
NM_015404.4(WHRN):c.2618G>A (p.Arg873Gln)
|
rs1301232723
|
|
NM_015404.4(WHRN):c.2620G>A (p.Gly874Ser)
|
rs142732176
|
|
NM_015404.4(WHRN):c.262C>T (p.Arg88Trp)
|
|
|
NM_015404.4(WHRN):c.2631C>T (p.His877=)
|
rs765930159
|
|
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser)
|
rs150586098
|
|
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys)
|
rs150586098
|
|
NM_015404.4(WHRN):c.2653G>C (p.Ala885Pro)
|
|
|
NM_015404.4(WHRN):c.2677C>G (p.Arg893Gly)
|
|
|
NM_015404.4(WHRN):c.2677C>T (p.Arg893Cys)
|
rs138323921
|
|
NM_015404.4(WHRN):c.26C>A (p.Ser9Ter)
|
rs776268964
|
|
NM_015404.4(WHRN):c.2701A>C (p.Thr901Pro)
|
|
|
NM_015404.4(WHRN):c.2722T>C (p.Ter908Gln)
|
rs727505255
|
|
NM_015404.4(WHRN):c.277A>G (p.Met93Val)
|
|
|
NM_015404.4(WHRN):c.284G>C (p.Arg95Pro)
|
rs2133479249
|
|
NM_015404.4(WHRN):c.291C>G (p.Val97=)
|
rs755698714
|
|
NM_015404.4(WHRN):c.301T>G (p.Ser101Ala)
|
|
|
NM_015404.4(WHRN):c.310C>G (p.Leu104Val)
|
rs2133478444
|
|
NM_015404.4(WHRN):c.315C>T (p.Leu105=)
|
|
|
NM_015404.4(WHRN):c.327C>A (p.Tyr109Ter)
|
|
|
NM_015404.4(WHRN):c.328A>G (p.Thr110Ala)
|
rs572312301
|
|
NM_015404.4(WHRN):c.334G>A (p.Glu112Lys)
|
|
|
NM_015404.4(WHRN):c.348G>A (p.Leu116=)
|
|
|
NM_015404.4(WHRN):c.348G>C (p.Leu116=)
|
|
|
NM_015404.4(WHRN):c.348G>T (p.Leu116=)
|
|
|
NM_015404.4(WHRN):c.351C>T (p.Pro117=)
|
|
|
NM_015404.4(WHRN):c.35C>G (p.Ser12Trp)
|
rs760261757
|
|
NM_015404.4(WHRN):c.362C>A (p.Pro121His)
|
rs549584611
|
|
NM_015404.4(WHRN):c.362C>G (p.Pro121Arg)
|
rs549584611
|
|
NM_015404.4(WHRN):c.366C>A (p.Tyr122Ter)
|
|
|
NM_015404.4(WHRN):c.390C>G (p.Pro130=)
|
|
|
NM_015404.4(WHRN):c.399G>C (p.Ala133=)
|
rs753687219
|
|
NM_015404.4(WHRN):c.3G>C (p.Met1Ile)
|
|
|
NM_015404.4(WHRN):c.3G>T (p.Met1Ile)
|
rs2133485628
|
|
NM_015404.4(WHRN):c.400G>A (p.Gly134Arg)
|
rs761031396
|
|
NM_015404.4(WHRN):c.406G>A (p.Gly136Arg)
|
rs775689658
|
|
NM_015404.4(WHRN):c.406G>C (p.Gly136Arg)
|
|
|
NM_015404.4(WHRN):c.413T>G (p.Val138Gly)
|
|
|
NM_015404.4(WHRN):c.443C>T (p.Ala148Val)
|
|
|
NM_015404.4(WHRN):c.444C>T (p.Ala148=)
|
|
|
NM_015404.4(WHRN):c.454T>C (p.Leu152=)
|
|
|
NM_015404.4(WHRN):c.464G>C (p.Ser155Thr)
|
rs2133474681
|
|
NM_015404.4(WHRN):c.46G>A (p.Gly16Ser)
|
|
|
NM_015404.4(WHRN):c.489C>T (p.Gly163=)
|
rs1844198299
|
|
NM_015404.4(WHRN):c.499T>G (p.Tyr167Asp)
|
|
|
NM_015404.4(WHRN):c.501del (p.Ile166_Tyr167insTer)
|
rs2133473949
|
|
NM_015404.4(WHRN):c.506C>G (p.Ser169Cys)
|
rs1844196010
|
|
NM_015404.4(WHRN):c.511G>A (p.Val171Met)
|
|
|
NM_015404.4(WHRN):c.512T>C (p.Val171Ala)
|
rs2133473658
|
|
NM_015404.4(WHRN):c.519A>G (p.Pro173=)
|
rs2133473537
|
|
NM_015404.4(WHRN):c.524C>G (p.Ser175Cys)
|
rs2133473387
|
|
NM_015404.4(WHRN):c.540A>G (p.Glu180=)
|
rs2133473118
|
|
NM_015404.4(WHRN):c.546G>T (p.Leu182=)
|
|
|
NM_015404.4(WHRN):c.552C>T (p.Val184=)
|
|
|
NM_015404.4(WHRN):c.553_565del (p.Gly185fs)
|
rs1844189531
|
|
NM_015404.4(WHRN):c.55G>T (p.Gly19Cys)
|
rs1344881617
|
|
NM_015404.4(WHRN):c.571G>T (p.Val191Phe)
|
rs781410100
|
|
NM_015404.4(WHRN):c.584C>T (p.Ser195Phe)
|
|
|
NM_015404.4(WHRN):c.586C>G (p.Leu196Val)
|
|
|
NM_015404.4(WHRN):c.587T>C (p.Leu196Pro)
|
rs1844185912
|
|
NM_015404.4(WHRN):c.603C>A (p.His201Gln)
|
rs762111375
|
|
NM_015404.4(WHRN):c.612C>A (p.Ala204=)
|
rs1484152634
|
|
NM_015404.4(WHRN):c.616A>G (p.Lys206Glu)
|
|
|
NM_015404.4(WHRN):c.618+125T>A
|
rs76016219
|
|
NM_015404.4(WHRN):c.618+125_618+126del
|
rs5900094
|
|
NM_015404.4(WHRN):c.618+126del
|
rs5900094
|
|
NM_015404.4(WHRN):c.618+17G>A
|
|
|
NM_015404.4(WHRN):c.618+20A>C
|
rs2133470915
|
|
NM_015404.4(WHRN):c.618+6G>C
|
|
|
NM_015404.4(WHRN):c.618+7C>T
|
rs2133471156
|
|
NM_015404.4(WHRN):c.619-12C>G
|
|
|
NM_015404.4(WHRN):c.619-18G>T
|
|
|
NM_015404.4(WHRN):c.619-4C>G
|
rs2133135036
|
|
NM_015404.4(WHRN):c.619-54C>T
|
rs56168690
|
|
NM_015404.4(WHRN):c.619-66G>T
|
rs7874870
|
|
NM_015404.4(WHRN):c.643G>T (p.Val215Leu)
|
rs375459436
|
|
NM_015404.4(WHRN):c.654G>A (p.Val218=)
|
|
|
NM_015404.4(WHRN):c.667C>G (p.Arg223Gly)
|
|
|
NM_015404.4(WHRN):c.66C>T (p.Ala22=)
|
|
|
NM_015404.4(WHRN):c.680dup (p.Tyr228fs)
|
rs1306987034
|
|
NM_015404.4(WHRN):c.683A>G (p.Tyr228Cys)
|
|
|
NM_015404.4(WHRN):c.685G>T (p.Val229Phe)
|
rs1199178665
|
|
NM_015404.4(WHRN):c.696C>T (p.His232=)
|
rs200605297
|
|
NM_015404.4(WHRN):c.699C>G (p.Ile233Met)
|
rs1441658113
|
|
NM_015404.4(WHRN):c.69G>T (p.Gly23=)
|
rs1474453921
|
|
NM_015404.4(WHRN):c.6C>T (p.Asn2=)
|
|
|
NM_015404.4(WHRN):c.70G>A (p.Ala24Thr)
|
|
|
NM_015404.4(WHRN):c.715_717delinsAAA (p.Pro239Lys)
|
|
|
NM_015404.4(WHRN):c.717G>A (p.Pro239=)
|
|
|
NM_015404.4(WHRN):c.718C>G (p.Gln240Glu)
|
rs2133132912
|
|
NM_015404.4(WHRN):c.721G>C (p.Gly241Arg)
|
|
|
NM_015404.4(WHRN):c.722G>A (p.Gly241Asp)
|
rs2133132806
|
|
NM_015404.4(WHRN):c.737C>T (p.Pro246Leu)
|
rs1841857897
|
|
NM_015404.4(WHRN):c.737del (p.Pro246fs)
|
rs1589229634
|
|
NM_015404.4(WHRN):c.73_88del (p.Gly25fs)
|
|
|
NM_015404.4(WHRN):c.740C>G (p.Pro247Arg)
|
rs1478823101
|
|
NM_015404.4(WHRN):c.744G>A (p.Ser248=)
|
rs397517259
|
|
NM_015404.4(WHRN):c.747C>G (p.Gly249=)
|
|
|
NM_015404.4(WHRN):c.74dup (p.Gly26fs)
|
rs1844258324
|
|
NM_015404.4(WHRN):c.753C>T (p.Pro251=)
|
rs368785016
|
|
NM_015404.4(WHRN):c.759C>T (p.Pro253=)
|
|
|
NM_015404.4(WHRN):c.75CGG[2] (p.Gly29del)
|
rs757435431
|
|
NM_015404.4(WHRN):c.774G>A (p.Leu258=)
|
|
|
NM_015404.4(WHRN):c.793C>A (p.Arg265=)
|
|
|
NM_015404.4(WHRN):c.794G>A (p.Arg265Gln)
|
|
|
NM_015404.4(WHRN):c.7G>A (p.Ala3Thr)
|
rs1844267552
|
|
NM_015404.4(WHRN):c.809A>G (p.His270Arg)
|
|
|
NM_015404.4(WHRN):c.812_826del (p.Leu271_Asp276delinsHis)
|
|
|
NM_015404.4(WHRN):c.816G>A (p.Leu272=)
|
rs988074871
|
|
NM_015404.4(WHRN):c.837+10G>A
|
|
|
NM_015404.4(WHRN):c.837+7G>A
|
|
|
NM_015404.4(WHRN):c.838-11C>T
|
|
|
NM_015404.4(WHRN):c.838-13C>T
|
|
|
NM_015404.4(WHRN):c.838-5G>T
|
rs775889426
|
|
NM_015404.4(WHRN):c.838-9C>T
|
rs2132957378
|
|
NM_015404.4(WHRN):c.851T>C (p.Leu284Pro)
|
|
|
NM_015404.4(WHRN):c.852G>A (p.Leu284=)
|
rs2132957097
|
|
NM_015404.4(WHRN):c.855G>A (p.Gly285=)
|
|
|
NM_015404.4(WHRN):c.856dup (p.Asp286fs)
|
rs1064794551
|
|
NM_015404.4(WHRN):c.872G>T (p.Gly291Val)
|
|
|
NM_015404.4(WHRN):c.876C>T (p.Leu292=)
|
rs1252438116
|
|
NM_015404.4(WHRN):c.884G>A (p.Arg295His)
|
|
|
NM_015404.4(WHRN):c.886G>T (p.Gly296Trp)
|
|
|
NM_015404.4(WHRN):c.894T>C (p.Ala298=)
|
rs1840688688
|
|
NM_015404.4(WHRN):c.925G>A (p.Val309Met)
|
|
|
NM_015404.4(WHRN):c.929_948dup (p.Gly317fs)
|
rs2132954843
|
|
NM_015404.4(WHRN):c.931C>T (p.Pro311Ser)
|
rs2132955094
|
|
NM_015404.4(WHRN):c.943G>C (p.Ala315Pro)
|
rs876657774
|
|
NM_015404.4(WHRN):c.955G>T (p.Gly319Trp)
|
rs143165834
|
|
NM_015404.4(WHRN):c.963+6_963+7dup
|
rs376737397
|
|
NM_015404.4(WHRN):c.963+9G>C
|
rs1840681565
|
|
NM_015404.4(WHRN):c.964-4_964-3delinsTT
|
rs1836866622
|
|
NM_015404.4(WHRN):c.978T>G (p.Ile326Met)
|
rs2132408817
|
|
NM_015404.4(WHRN):c.979C>T (p.Leu327=)
|
|
|
NM_015404.4(WHRN):c.97_105dup (p.Leu35_Ser36insArgLeuLeu)
|
|
|
NM_015404.4(WHRN):c.993G>A (p.Gly331=)
|
rs1026262740
|
|