NM_080424.4(SP110):c.334T>C (p.Trp112Arg)
|
rs1129411
|
0.91532
|
NM_080424.4(SP110):c.1274T>C (p.Leu425Ser)
|
rs3948464
|
0.86768
|
NM_080424.4(SP110):c.895G>A (p.Gly299Arg)
|
rs1365776
|
0.71538
|
NM_080424.4(SP110):c.668-21A>C
|
rs3820974
|
0.48767
|
NM_080424.4(SP110):c.1568T>C (p.Met523Thr)
|
rs1135791
|
0.39929
|
NM_080424.4(SP110):c.584-9C>T
|
rs41309096
|
0.27398
|
NM_080424.4(SP110):c.617C>T (p.Ala206Val)
|
rs28930679
|
0.20608
|
NM_080424.4(SP110):c.1274= (p.Leu425=)
|
rs3948464
|
0.13232
|
NM_080424.4(SP110):c.1815+14A>G
|
rs34034766
|
0.11238
|
NM_080424.4(SP110):c.1731C>T (p.Cys577=)
|
rs13018234
|
0.10366
|
NM_080424.4(SP110):c.619G>A (p.Glu207Lys)
|
rs9061
|
0.08779
|
NM_080424.4(SP110):c.334= (p.Trp112=)
|
rs1129411
|
0.08468
|
NM_080424.4(SP110):c.1038G>C (p.Ser346=)
|
rs7606916
|
0.07450
|
NM_080424.4(SP110):c.383C>T (p.Ala128Val)
|
rs11556887
|
0.07082
|
NM_080424.4(SP110):c.1737G>A (p.Met579Ile)
|
rs3948463
|
0.05302
|
NM_080424.4(SP110):c.1650T>C (p.Gly550=)
|
rs35495464
|
0.05293
|
NM_080424.4(SP110):c.1100C>T (p.Thr367Met)
|
rs59573011
|
0.01618
|
NM_080424.4(SP110):c.376G>A (p.Gly126Ser)
|
rs41309088
|
0.01459
|
NM_080424.4(SP110):c.1447G>A (p.Gly483Arg)
|
rs149485401
|
0.00856
|
NM_080424.4(SP110):c.1130-11A>G
|
rs41547617
|
0.00503
|
NM_080424.4(SP110):c.1647C>T (p.Cys549=)
|
rs116626378
|
0.00462
|
NM_080424.4(SP110):c.1464C>T (p.Cys488=)
|
rs147355697
|
0.00399
|
NM_080424.4(SP110):c.583+8A>G
|
rs114743173
|
0.00224
|
NM_080424.4(SP110):c.584-10C>G
|
rs148591984
|
0.00188
|
NM_080424.4(SP110):c.522C>T (p.Pro174=)
|
rs144428054
|
0.00137
|
NM_080424.4(SP110):c.1706+20G>A
|
rs192671550
|
0.00129
|
NM_080424.4(SP110):c.978T>G (p.Thr326=)
|
rs145246759
|
0.00109
|
NM_080424.4(SP110):c.1413G>A (p.Ala471=)
|
rs147519012
|
0.00085
|
NM_080424.4(SP110):c.1706+4A>T
|
rs201034113
|
0.00073
|
NM_080424.4(SP110):c.1591-9C>T
|
rs202101309
|
0.00058
|
NM_080424.4(SP110):c.542T>G (p.Leu181Arg)
|
rs77642505
|
0.00058
|
NM_080424.4(SP110):c.451C>T (p.Pro151Ser)
|
rs146515106
|
0.00053
|
NM_080424.4(SP110):c.328T>C (p.Tyr110His)
|
rs200651686
|
0.00049
|
NM_080424.4(SP110):c.1200C>T (p.Asp400=)
|
rs115361843
|
0.00047
|
NM_080424.4(SP110):c.2006G>A (p.Arg669His)
|
rs115347862
|
0.00044
|
NM_080424.4(SP110):c.745A>G (p.Met249Val)
|
rs3769838
|
0.00036
|
NM_080424.4(SP110):c.1612G>A (p.Glu538Lys)
|
rs149682257
|
0.00031
|
NM_080424.4(SP110):c.1315A>G (p.Lys439Glu)
|
rs145154247
|
0.00029
|
NM_080424.4(SP110):c.2122G>C (p.Gly708Arg)
|
rs181058279
|
0.00029
|
NM_080424.4(SP110):c.459G>A (p.Ala153=)
|
rs201957445
|
0.00029
|
NM_080424.4(SP110):c.2120G>A (p.Gly707Asp)
|
rs115052010
|
0.00027
|
NM_080424.4(SP110):c.-85T>C
|
rs199943005
|
0.00023
|
NM_080424.4(SP110):c.1324T>C (p.Phe442Leu)
|
rs115380913
|
0.00020
|
NM_080424.4(SP110):c.1956G>A (p.Thr652=)
|
rs115116751
|
0.00016
|
NM_080424.4(SP110):c.1968G>A (p.Thr656=)
|
rs149050898
|
0.00015
|
NM_080424.4(SP110):c.2112C>T (p.Ala704=)
|
rs144066858
|
0.00015
|
NM_080424.4(SP110):c.147+17C>A
|
rs200699664
|
0.00014
|
NM_080424.4(SP110):c.1591C>T (p.Arg531Trp)
|
rs200099412
|
0.00013
|
NM_080424.4(SP110):c.1974A>G (p.Ala658=)
|
rs200463093
|
0.00012
|
NM_080424.4(SP110):c.339G>A (p.Gln113=)
|
rs148356804
|
0.00012
|
NM_080424.4(SP110):c.75T>C (p.Tyr25=)
|
rs41309082
|
0.00012
|
NM_080424.4(SP110):c.431C>A (p.Pro144His)
|
rs151199258
|
0.00011
|
NM_080424.4(SP110):c.898+14A>G
|
rs200753717
|
0.00011
|
NM_080424.4(SP110):c.1262G>A (p.Arg421Gln)
|
rs140588937
|
0.00010
|
NM_080424.4(SP110):c.1591-18C>T
|
rs199943105
|
0.00010
|
NM_080424.4(SP110):c.335G>A (p.Trp112Ter)
|
rs757092766
|
0.00010
|
NM_080424.4(SP110):c.351A>G (p.Thr117=)
|
rs115460481
|
0.00009
|
NM_080424.4(SP110):c.1170A>G (p.Gln390=)
|
rs140086984
|
0.00008
|
NM_080424.4(SP110):c.1343G>A (p.Arg448Gln)
|
rs201853984
|
0.00008
|
NM_080424.4(SP110):c.69C>T (p.Ile23=)
|
rs200563150
|
0.00008
|
NM_080424.4(SP110):c.237T>G (p.Ser79=)
|
rs202135641
|
0.00007
|
NM_080424.4(SP110):c.842A>G (p.Lys281Arg)
|
rs187168146
|
0.00007
|
NM_080424.4(SP110):c.1395C>T (p.Pro465=)
|
rs767345511
|
0.00006
|
NM_080424.4(SP110):c.1590+13C>T
|
rs144063651
|
0.00006
|
NM_080424.4(SP110):c.1985G>A (p.Arg662Gln)
|
rs200397055
|
0.00006
|
NM_080424.4(SP110):c.293C>T (p.Thr98Met)
|
rs755163914
|
0.00006
|
NM_080424.4(SP110):c.370C>T (p.Pro124Ser)
|
rs1158665994
|
0.00006
|
NM_080424.4(SP110):c.519G>A (p.Ser173=)
|
rs114550400
|
0.00006
|
NM_080424.4(SP110):c.544C>T (p.Pro182Ser)
|
rs199978387
|
0.00006
|
NM_080424.4(SP110):c.981T>C (p.Cys327=)
|
rs202198335
|
0.00006
|
NM_080424.4(SP110):c.1115G>A (p.Arg372Gln)
|
rs201394862
|
0.00005
|
NM_080424.4(SP110):c.1379A>C (p.His460Pro)
|
rs772667418
|
0.00005
|
NM_080424.4(SP110):c.144C>T (p.Tyr48=)
|
rs201435337
|
0.00005
|
NM_080424.4(SP110):c.86A>T (p.Lys29Met)
|
rs756746930
|
0.00005
|
NM_080424.4(SP110):c.1480G>A (p.Gly494Arg)
|
rs777078204
|
0.00004
|
NM_080424.4(SP110):c.1512C>T (p.Val504=)
|
rs547650308
|
0.00004
|
NM_080424.4(SP110):c.1531G>A (p.Ala511Thr)
|
rs745817983
|
0.00004
|
NM_080424.4(SP110):c.1706+19C>T
|
rs200267588
|
0.00004
|
NM_080424.4(SP110):c.1757A>G (p.Gln586Arg)
|
rs757053890
|
0.00004
|
NM_080424.4(SP110):c.1899C>T (p.Tyr633=)
|
rs114352205
|
0.00004
|
NM_080424.4(SP110):c.2054T>C (p.Leu685Pro)
|
rs114501363
|
0.00004
|
NM_080424.4(SP110):c.2138C>G (p.Pro713Arg)
|
rs200225863
|
0.00004
|
NM_080424.4(SP110):c.23T>C (p.Met8Thr)
|
rs200067258
|
0.00004
|
NM_080424.4(SP110):c.618G>A (p.Ala206=)
|
rs372578277
|
0.00004
|
NM_080424.4(SP110):c.751+9G>T
|
rs201731985
|
0.00004
|
NM_080424.4(SP110):c.929A>C (p.Lys310Thr)
|
rs200591551
|
0.00004
|
NM_080424.4(SP110):c.*204A>T
|
rs76598053
|
0.00003
|
NM_080424.4(SP110):c.126C>T (p.Ile42=)
|
rs139246977
|
0.00003
|
NM_080424.4(SP110):c.1362dup (p.Asp455Ter)
|
rs754452211
|
0.00003
|
NM_080424.4(SP110):c.1427A>G (p.Tyr476Cys)
|
rs148808440
|
0.00003
|
NM_080424.4(SP110):c.1984C>T (p.Arg662Ter)
|
rs201059449
|
0.00003
|
NM_080424.4(SP110):c.2086A>G (p.Lys696Glu)
|
rs370130521
|
0.00003
|
NM_080424.4(SP110):c.2098G>A (p.Gly700Ser)
|
rs141900135
|
0.00003
|
NM_080424.4(SP110):c.414G>A (p.Ala138=)
|
rs570329901
|
0.00003
|
NM_080424.4(SP110):c.780T>C (p.Asn260=)
|
rs368772645
|
0.00003
|
NM_080424.4(SP110):c.952G>C (p.Val318Leu)
|
rs201742692
|
0.00003
|
NM_080424.4(SP110):c.1101G>A (p.Thr367=)
|
rs200621430
|
0.00002
|
NM_080424.4(SP110):c.1254A>G (p.Lys418=)
|
rs201494565
|
0.00002
|
NM_080424.4(SP110):c.1301T>C (p.Ile434Thr)
|
rs140716014
|
0.00002
|
NM_080424.4(SP110):c.1342C>T (p.Arg448Ter)
|
rs199844454
|
0.00002
|
NM_080424.4(SP110):c.1547G>A (p.Arg516Gln)
|
rs763875680
|
0.00002
|
NM_080424.4(SP110):c.1939A>G (p.Lys647Glu)
|
rs752004065
|
0.00002
|
NM_080424.4(SP110):c.1988A>C (p.Asp663Ala)
|
rs780195098
|
0.00002
|
NM_080424.4(SP110):c.2118C>T (p.Asp706=)
|
rs115945163
|
0.00002
|
NM_080424.4(SP110):c.317T>C (p.Val106Ala)
|
rs768821081
|
0.00002
|
NM_080424.4(SP110):c.386A>G (p.Glu129Gly)
|
rs140974206
|
0.00002
|
NM_080424.4(SP110):c.413C>T (p.Ala138Val)
|
rs114017623
|
0.00002
|
NM_080424.4(SP110):c.417G>A (p.Leu139=)
|
rs769837823
|
0.00002
|
NM_080424.4(SP110):c.686dup (p.Gln231fs)
|
rs763364899
|
0.00002
|
NM_080424.4(SP110):c.899-3C>T
|
rs200606484
|
0.00002
|
NM_080424.4(SP110):c.934C>G (p.Leu312Val)
|
rs1056828943
|
0.00002
|
NM_080424.4(SP110):c.938A>G (p.Lys313Arg)
|
rs1317519602
|
0.00002
|
NM_080424.4(SP110):c.989C>T (p.Thr330Met)
|
rs141019373
|
0.00002
|
NM_080424.4(SP110):c.*203A>T
|
rs79681285
|
0.00001
|
NM_080424.4(SP110):c.1019C>T (p.Thr340Ile)
|
rs752428563
|
0.00001
|
NM_080424.4(SP110):c.1031G>A (p.Arg344Gln)
|
rs144163010
|
0.00001
|
NM_080424.4(SP110):c.1048+16G>C
|
rs1202943206
|
0.00001
|
NM_080424.4(SP110):c.1056T>C (p.Ile352=)
|
rs749437023
|
0.00001
|
NM_080424.4(SP110):c.1067C>T (p.Ser356Leu)
|
rs775810248
|
0.00001
|
NM_080424.4(SP110):c.1092C>T (p.Ser364=)
|
rs777870124
|
0.00001
|
NM_080424.4(SP110):c.1201G>A (p.Asp401Asn)
|
rs761627243
|
0.00001
|
NM_080424.4(SP110):c.1219G>C (p.Glu407Gln)
|
rs201353625
|
0.00001
|
NM_080424.4(SP110):c.1256G>A (p.Cys419Tyr)
|
rs200721134
|
0.00001
|
NM_080424.4(SP110):c.1286A>G (p.Lys429Arg)
|
rs751347896
|
0.00001
|
NM_080424.4(SP110):c.1319G>A (p.Arg440Lys)
|
rs201014289
|
0.00001
|
NM_080424.4(SP110):c.1348+20C>T
|
rs200872139
|
0.00001
|
NM_080424.4(SP110):c.1373A>T (p.Asp458Val)
|
rs754679838
|
0.00001
|
NM_080424.4(SP110):c.1396G>A (p.Val466Met)
|
rs900500193
|
0.00001
|
NM_080424.4(SP110):c.1448-6T>G
|
rs201866278
|
0.00001
|
NM_080424.4(SP110):c.1448-8T>C
|
rs1454379529
|
0.00001
|
NM_080424.4(SP110):c.1448G>A (p.Gly483Glu)
|
rs534248634
|
0.00001
|
NM_080424.4(SP110):c.1469G>A (p.Arg490Gln)
|
rs760017935
|
0.00001
|
NM_080424.4(SP110):c.1590+10T>A
|
rs199856620
|
0.00001
|
NM_080424.4(SP110):c.1591-4G>A
|
rs773822608
|
0.00001
|
NM_080424.4(SP110):c.1591-6T>G
|
rs200317062
|
0.00001
|
NM_080424.4(SP110):c.1601C>T (p.Ser534Leu)
|
rs547427992
|
0.00001
|
NM_080424.4(SP110):c.1639C>G (p.Leu547Val)
|
rs376116343
|
0.00001
|
NM_080424.4(SP110):c.1649G>A (p.Gly550Asp)
|
rs761714428
|
0.00001
|
NM_080424.4(SP110):c.1661G>A (p.Arg554Gln)
|
rs199745658
|
0.00001
|
NM_080424.4(SP110):c.1707-9A>G
|
rs1408172912
|
0.00001
|
NM_080424.4(SP110):c.1708A>G (p.Met570Val)
|
rs547677489
|
0.00001
|
NM_080424.4(SP110):c.1891C>T (p.Arg631Ter)
|
rs1011767398
|
0.00001
|
NM_080424.4(SP110):c.189A>G (p.Arg63=)
|
rs1335621440
|
0.00001
|
NM_080424.4(SP110):c.1900G>A (p.Gly634Ser)
|
rs200027337
|
0.00001
|
NM_080424.4(SP110):c.1905G>C (p.Glu635Asp)
|
rs199635684
|
0.00001
|
NM_080424.4(SP110):c.1928T>G (p.Leu643Trp)
|
rs199752332
|
0.00001
|
NM_080424.4(SP110):c.1955C>T (p.Thr652Met)
|
rs372023963
|
0.00001
|
NM_080424.4(SP110):c.196C>T (p.His66Tyr)
|
rs370656079
|
0.00001
|
NM_080424.4(SP110):c.2061A>G (p.Leu687=)
|
rs756202587
|
0.00001
|
NM_080424.4(SP110):c.2091C>T (p.Asp697=)
|
rs201752781
|
0.00001
|
NM_080424.4(SP110):c.2092G>A (p.Val698Met)
|
rs765155471
|
0.00001
|
NM_080424.4(SP110):c.2135T>G (p.Leu712Arg)
|
rs757369735
|
0.00001
|
NM_080424.4(SP110):c.231C>T (p.Asn77=)
|
rs754278979
|
0.00001
|
NM_080424.4(SP110):c.261A>G (p.Gln87=)
|
rs1311849128
|
0.00001
|
NM_080424.4(SP110):c.294G>A (p.Thr98=)
|
rs199925122
|
0.00001
|
NM_080424.4(SP110):c.317-9C>T
|
rs369737388
|
0.00001
|
NM_080424.4(SP110):c.338A>G (p.Gln113Arg)
|
rs577324370
|
0.00001
|
NM_080424.4(SP110):c.342C>A (p.Ser114Arg)
|
rs1559178549
|
0.00001
|
NM_080424.4(SP110):c.407C>T (p.Pro136Leu)
|
rs768753285
|
0.00001
|
NM_080424.4(SP110):c.463A>G (p.Arg155Gly)
|
rs1441620017
|
0.00001
|
NM_080424.4(SP110):c.498C>T (p.Ser166=)
|
rs763110758
|
0.00001
|
NM_080424.4(SP110):c.518C>T (p.Ser173Leu)
|
rs41552315
|
0.00001
|
NM_080424.4(SP110):c.550C>T (p.Pro184Ser)
|
rs750052870
|
0.00001
|
NM_080424.4(SP110):c.579T>C (p.Thr193=)
|
rs1228225343
|
0.00001
|
NM_080424.4(SP110):c.583+16C>T
|
rs1385377290
|
0.00001
|
NM_080424.4(SP110):c.671C>G (p.Ala224Gly)
|
rs754038132
|
0.00001
|
NM_080424.4(SP110):c.711C>T (p.Asp237=)
|
rs1167489264
|
0.00001
|
NM_080424.4(SP110):c.740G>A (p.Gly247Asp)
|
rs900156609
|
0.00001
|
NM_080424.4(SP110):c.751G>C (p.Glu251Gln)
|
rs199507633
|
0.00001
|
NM_080424.4(SP110):c.826A>G (p.Lys276Glu)
|
rs2044285386
|
0.00001
|
NM_080424.4(SP110):c.829+10G>A
|
rs759280256
|
0.00001
|
NM_080424.4(SP110):c.877A>G (p.Lys293Glu)
|
rs199845488
|
0.00001
|
NM_080424.4(SP110):c.900G>A (p.Gly300=)
|
rs886055765
|
0.00001
|
NC_000002.11:g.(231037676_231042253)_(231042397_231042872)del
|
|
|
NC_000002.11:g.(?_231033820)_(231086456_?)del
|
|
|
NC_000002.11:g.(?_231033820)_(231086456_?)dup
|
|
|
NC_000002.11:g.(?_231033840)_(231081642_?)del
|
|
|
NC_000002.11:g.(?_231042234)_(231042416_?)del
|
|
|
NC_000002.11:g.(?_231048268)_(231086456_?)dup
|
|
|
NC_000002.12:g.(?_230176645)_(230177700_?)del
|
|
|
NM_080424.4(SP110):c.*158C>A
|
rs2078358694
|
|
NM_080424.4(SP110):c.*205_*206A[4]TTAA[1]
|
rs5839361
|
|
NM_080424.4(SP110):c.*206del
|
rs1553839905
|
|
NM_080424.4(SP110):c.*82G>A
|
rs371157716
|
|
NM_080424.4(SP110):c.1020_1043dup (p.Cys342_Glu349dup)
|
rs769621341
|
|
NM_080424.4(SP110):c.1030C>T (p.Arg344Ter)
|
rs199938221
|
|
NM_080424.4(SP110):c.1031G>C (p.Arg344Pro)
|
rs144163010
|
|
NM_080424.4(SP110):c.1037C>T (p.Ser346Leu)
|
rs1574675911
|
|
NM_080424.4(SP110):c.1038G>A (p.Ser346=)
|
rs7606916
|
|
NM_080424.4(SP110):c.1048+9G>A
|
|
|
NM_080424.4(SP110):c.1049-16A>T
|
|
|
NM_080424.4(SP110):c.1049-8T>C
|
|
|
NM_080424.4(SP110):c.1052T>C (p.Ile351Thr)
|
|
|
NM_080424.4(SP110):c.1054A>G (p.Ile352Val)
|
rs1014974380
|
|
NM_080424.4(SP110):c.1067C>A (p.Ser356Ter)
|
|
|
NM_080424.4(SP110):c.1090T>C (p.Ser364Pro)
|
|
|
NM_080424.4(SP110):c.1091_1092delinsAT (p.Ser364Tyr)
|
rs1559162086
|
|
NM_080424.4(SP110):c.1102C>G (p.Pro368Ala)
|
rs962546053
|
|
NM_080424.4(SP110):c.1106G>C (p.Ser369Thr)
|
rs1353393264
|
|
NM_080424.4(SP110):c.1114C>T (p.Arg372Ter)
|
rs199713399
|
|
NM_080424.4(SP110):c.1116_1119del (p.Arg373fs)
|
rs2148850717
|
|
NM_080424.4(SP110):c.1126C>G (p.Gln376Glu)
|
|
|
NM_080424.4(SP110):c.1129+16T>C
|
|
|
NM_080424.4(SP110):c.1129+18C>A
|
|
|
NM_080424.4(SP110):c.1129+4A>G
|
|
|
NM_080424.4(SP110):c.1129+7C>T
|
|
|
NM_080424.4(SP110):c.1129+9T>G
|
rs760607836
|
|
NM_080424.4(SP110):c.1130-10T>C
|
|
|
NM_080424.4(SP110):c.1130-12T>C
|
|
|
NM_080424.4(SP110):c.1130-16A>G
|
rs2148751501
|
|
NM_080424.4(SP110):c.1130-1G>C
|
|
|
NM_080424.4(SP110):c.1137C>T (p.Ala379=)
|
rs2148751311
|
|
NM_080424.4(SP110):c.1173G>A (p.Val391=)
|
rs886055764
|
|
NM_080424.4(SP110):c.1179T>G (p.Asp393Glu)
|
|
|
NM_080424.4(SP110):c.1195A>C (p.Lys399Gln)
|
|
|
NM_080424.4(SP110):c.1225A>G (p.Met409Val)
|
rs150627628
|
|
NM_080424.4(SP110):c.1225A>T (p.Met409Leu)
|
|
|
NM_080424.4(SP110):c.1226T>G (p.Met409Arg)
|
rs369778669
|
|
NM_080424.4(SP110):c.1227G>A (p.Met409Ile)
|
rs201972538
|
|
NM_080424.4(SP110):c.1261C>T (p.Arg421Ter)
|
rs927135298
|
|
NM_080424.4(SP110):c.127A>G (p.Ile43Val)
|
rs886055766
|
|
NM_080424.4(SP110):c.1280-10C>G
|
rs201596009
|
|
NM_080424.4(SP110):c.1283A>G (p.Lys428Arg)
|
|
|
NM_080424.4(SP110):c.1298A>G (p.Asp433Gly)
|
rs1157982871
|
|
NM_080424.4(SP110):c.1311C>A (p.Ser437Arg)
|
rs199802117
|
|
NM_080424.4(SP110):c.1339C>G (p.His447Asp)
|
|
|
NM_080424.4(SP110):c.1340A>G (p.His447Arg)
|
|
|
NM_080424.4(SP110):c.1341C>T (p.His447=)
|
|
|
NM_080424.4(SP110):c.1348+9G>A
|
rs758205605
|
|
NM_080424.4(SP110):c.1349-18G>T
|
|
|
NM_080424.4(SP110):c.1349-19T>C
|
rs1574607023
|
|
NM_080424.4(SP110):c.1349-2A>T
|
|
|
NM_080424.4(SP110):c.1349G>A (p.Gly450Glu)
|
rs200662686
|
|
NM_080424.4(SP110):c.1353A>T (p.Lys451Asn)
|
|
|
NM_080424.4(SP110):c.138A>G (p.Arg46=)
|
|
|
NM_080424.4(SP110):c.1395dup (p.Val466fs)
|
rs1560530550
|
|
NM_080424.4(SP110):c.1400C>A (p.Thr467Asn)
|
rs1331348371
|
|
NM_080424.4(SP110):c.1408G>A (p.Glu470Lys)
|
|
|
NM_080424.4(SP110):c.1412C>T (p.Ala471Val)
|
rs774900609
|
|
NM_080424.4(SP110):c.1421T>G (p.Ile474Ser)
|
rs1393390517
|
|
NM_080424.4(SP110):c.1428_1429del (p.Tyr476_Lys477delinsTer)
|
rs751020218
|
|
NM_080424.4(SP110):c.1447+13G>A
|
rs1277504177
|
|
NM_080424.4(SP110):c.1448-13C>T
|
|
|
NM_080424.4(SP110):c.1468C>T (p.Arg490Trp)
|
|
|
NM_080424.4(SP110):c.147+9T>C
|
rs2148952051
|
|
NM_080424.4(SP110):c.1478A>T (p.Asp493Val)
|
rs2148714312
|
|
NM_080424.4(SP110):c.148-3T>C
|
|
|
NM_080424.4(SP110):c.1485T>G (p.Thr495=)
|
rs891497587
|
|
NM_080424.4(SP110):c.1502A>G (p.Glu501Gly)
|
rs2041925691
|
|
NM_080424.4(SP110):c.150A>G (p.Glu50=)
|
|
|
NM_080424.4(SP110):c.1514AAGGAA[1] (p.Lys507_Gly508del)
|
|
|
NM_080424.4(SP110):c.1530C>T (p.Asn510=)
|
|
|
NM_080424.4(SP110):c.1533A>G (p.Ala511=)
|
rs2148714102
|
|
NM_080424.4(SP110):c.1553T>A (p.Ile518Lys)
|
rs200056752
|
|
NM_080424.4(SP110):c.1553T>C (p.Ile518Thr)
|
|
|
NM_080424.4(SP110):c.1555C>T (p.Arg519Cys)
|
rs765616523
|
|
NM_080424.4(SP110):c.1556G>A (p.Arg519His)
|
|
|
NM_080424.4(SP110):c.1580A>G (p.Glu527Gly)
|
|
|
NM_080424.4(SP110):c.1590+16G>C
|
|
|
NM_080424.4(SP110):c.1590+20G>C
|
|
|
NM_080424.4(SP110):c.1591-10G>C
|
rs201856437
|
|
NM_080424.4(SP110):c.1602G>T (p.Ser534=)
|
rs756439485
|
|
NM_080424.4(SP110):c.1611C>T (p.Cys537=)
|
|
|
NM_080424.4(SP110):c.1621T>G (p.Cys541Gly)
|
rs2078487165
|
|
NM_080424.4(SP110):c.1627G>T (p.Gly543Trp)
|
|
|
NM_080424.4(SP110):c.1631dup (p.Gln545fs)
|
rs2078486744
|
|
NM_080424.4(SP110):c.1645T>C (p.Cys549Arg)
|
|
|
NM_080424.4(SP110):c.1650_1651delinsCT (p.Thr551Ser)
|
rs2106351365
|
|
NM_080424.4(SP110):c.1653T>C (p.Thr551=)
|
|
|
NM_080424.4(SP110):c.1660C>G (p.Arg554Gly)
|
|
|
NM_080424.4(SP110):c.1675G>A (p.Asp559Asn)
|
|
|
NM_080424.4(SP110):c.1691del (p.Pro564fs)
|
rs1245290762
|
|
NM_080424.4(SP110):c.1701C>G (p.Ala567=)
|
rs925484782
|
|
NM_080424.4(SP110):c.1706+11T>G
|
|
|
NM_080424.4(SP110):c.1706+17C>A
|
|
|
NM_080424.4(SP110):c.1706+20G>C
|
rs192671550
|
|
NM_080424.4(SP110):c.1707-11C>T
|
|
|
NM_080424.4(SP110):c.1707-14G>T
|
|
|
NM_080424.4(SP110):c.1713G>A (p.Leu571=)
|
rs2078461254
|
|
NM_080424.4(SP110):c.1733G>A (p.Arg578Lys)
|
rs2106348583
|
|
NM_080424.4(SP110):c.1749A>C (p.Ser583=)
|
rs1574590002
|
|
NM_080424.4(SP110):c.1751G>A (p.Gly584Glu)
|
|
|
NM_080424.4(SP110):c.1760A>G (p.Gln587Arg)
|
rs2106348468
|
|
NM_080424.4(SP110):c.1766A>T (p.His589Leu)
|
rs201886262
|
|
NM_080424.4(SP110):c.1766_1767del (p.His589fs)
|
|
|
NM_080424.4(SP110):c.1770T>C (p.His590=)
|
|
|
NM_080424.4(SP110):c.1775_1778del (p.Val591_Ser592insTer)
|
rs2106348318
|
|
NM_080424.4(SP110):c.1782C>A (p.Thr594=)
|
rs1474040043
|
|
NM_080424.4(SP110):c.1784T>G (p.Leu595Arg)
|
|
|
NM_080424.4(SP110):c.178C>A (p.Pro60Thr)
|
rs2044957058
|
|
NM_080424.4(SP110):c.1794G>A (p.Gln598=)
|
|
|
NM_080424.4(SP110):c.1815+11T>A
|
|
|
NM_080424.4(SP110):c.1815+17C>T
|
rs1353276974
|
|
NM_080424.4(SP110):c.1815+20C>G
|
rs199946971
|
|
NM_080424.4(SP110):c.1815+20C>T
|
rs199946971
|
|
NM_080424.4(SP110):c.1815+4A>T
|
rs978837440
|
|
NM_080424.4(SP110):c.1815+5_1815+6del
|
|
|
NM_080424.4(SP110):c.185C>G (p.Ser62Cys)
|
rs202029779
|
|
NM_080424.4(SP110):c.185C>T (p.Ser62Phe)
|
rs202029779
|
|
NM_080424.4(SP110):c.186C>T (p.Ser62=)
|
|
|
NM_080424.4(SP110):c.1888-17G>A
|
|
|
NM_080424.4(SP110):c.1888-22CT[3]
|
|
|
NM_080424.4(SP110):c.1888-2A>G
|
|
|
NM_080424.4(SP110):c.1888-4del
|
rs1367294713
|
|
NM_080424.4(SP110):c.1892G>C (p.Arg631Pro)
|
rs143090622
|
|
NM_080424.4(SP110):c.1900G>C (p.Gly634Arg)
|
rs200027337
|
|
NM_080424.4(SP110):c.1902T>C (p.Gly634=)
|
|
|
NM_080424.4(SP110):c.1933del (p.Leu645fs)
|
rs2106343198
|
|
NM_080424.4(SP110):c.1959A>G (p.Glu653=)
|
|
|
NM_080424.4(SP110):c.1965C>T (p.Tyr655=)
|
|
|
NM_080424.4(SP110):c.1991T>C (p.Met664Thr)
|
rs1302656922
|
|
NM_080424.4(SP110):c.1993C>A (p.Arg665Ser)
|
rs201864810
|
|
NM_080424.4(SP110):c.2005C>T (p.Arg669Cys)
|
rs200893271
|
|
NM_080424.4(SP110):c.2012A>G (p.His671Arg)
|
|
|
NM_080424.4(SP110):c.2014A>T (p.Lys672Ter)
|
rs201966308
|
|
NM_080424.4(SP110):c.2026A>G (p.Lys676Glu)
|
|
|
NM_080424.4(SP110):c.2028+1G>A
|
rs2106342777
|
|
NM_080424.4(SP110):c.2029-18T>G
|
rs2106338359
|
|
NM_080424.4(SP110):c.2029-7_2029-6del
|
rs773164340
|
|
NM_080424.4(SP110):c.2038T>C (p.Phe680Leu)
|
rs1371302119
|
|
NM_080424.4(SP110):c.2041G>C (p.Gly681Arg)
|
|
|
NM_080424.4(SP110):c.2059T>G (p.Leu687Val)
|
|
|
NM_080424.4(SP110):c.2072T>C (p.Phe691Ser)
|
|
|
NM_080424.4(SP110):c.2075A>G (p.Glu692Gly)
|
|
|
NM_080424.4(SP110):c.2079dup (p.Asp694fs)
|
rs769672517
|
|
NM_080424.4(SP110):c.2097C>T (p.Leu699=)
|
|
|
NM_080424.4(SP110):c.2099G>A (p.Gly700Asp)
|
rs2078364090
|
|
NM_080424.4(SP110):c.209C>T (p.Thr70Ile)
|
rs2044953751
|
|
NM_080424.4(SP110):c.2100T>C (p.Gly700=)
|
rs770898382
|
|
NM_080424.4(SP110):c.2106T>C (p.His702=)
|
|
|
NM_080424.4(SP110):c.2114A>G (p.Asn705Ser)
|
rs147011203
|
|
NM_080424.4(SP110):c.2116G>A (p.Asp706Asn)
|
|
|
NM_080424.4(SP110):c.2119G>T (p.Gly707Cys)
|
rs1423431073
|
|
NM_080424.4(SP110):c.2122G>A (p.Gly708Ser)
|
rs181058279
|
|
NM_080424.4(SP110):c.2127C>G (p.Phe709Leu)
|
|
|
NM_080424.4(SP110):c.21C>T (p.Ala7=)
|
|
|
NM_080424.4(SP110):c.222G>A (p.Arg74=)
|
|
|
NM_080424.4(SP110):c.26A>G (p.Glu9Gly)
|
|
|
NM_080424.4(SP110):c.271C>A (p.Arg91Ser)
|
rs201053153
|
|
NM_080424.4(SP110):c.271C>T (p.Arg91Cys)
|
rs201053153
|
|
NM_080424.4(SP110):c.272G>A (p.Arg91His)
|
|
|
NM_080424.4(SP110):c.299del (p.Tyr100fs)
|
|
|
NM_080424.4(SP110):c.316+19T>C
|
|
|
NM_080424.4(SP110):c.316+6G>A
|
rs201244482
|
|
NM_080424.4(SP110):c.316+8G>A
|
|
|
NM_080424.4(SP110):c.317-15C>A
|
|
|
NM_080424.4(SP110):c.317-16C>T
|
|
|
NM_080424.4(SP110):c.318T>G (p.Val106=)
|
|
|
NM_080424.4(SP110):c.319_325dup (p.Ser109fs)
|
rs397515569
|
|
NM_080424.4(SP110):c.340A>G (p.Ser114Gly)
|
rs2044663300
|
|
NM_080424.4(SP110):c.342_346del (p.Ser114fs)
|
rs1559178521
|
|
NM_080424.4(SP110):c.348C>T (p.Asp116=)
|
|
|
NM_080424.4(SP110):c.357C>A (p.Ile119=)
|
|
|
NM_080424.4(SP110):c.362T>C (p.Leu121Pro)
|
rs2148926939
|
|
NM_080424.4(SP110):c.373del (p.Thr125fs)
|
rs397515570
|
|
NM_080424.4(SP110):c.374C>G (p.Thr125Ser)
|
|
|
NM_080424.4(SP110):c.401A>G (p.His134Arg)
|
rs2044658221
|
|
NM_080424.4(SP110):c.404C>T (p.Thr135Ile)
|
|
|
NM_080424.4(SP110):c.40del (p.Gln14fs)
|
rs397515362
|
|
NM_080424.4(SP110):c.420C>T (p.Pro140=)
|
|
|
NM_080424.4(SP110):c.423A>G (p.Pro141=)
|
rs371294585
|
|
NM_080424.4(SP110):c.42G>A (p.Gln14=)
|
|
|
NM_080424.4(SP110):c.432C>A (p.Pro144=)
|
|
|
NM_080424.4(SP110):c.436C>T (p.Gln146Ter)
|
rs2148926458
|
|
NM_080424.4(SP110):c.441A>G (p.Pro147=)
|
|
|
NM_080424.4(SP110):c.459G>T (p.Ala153=)
|
|
|
NM_080424.4(SP110):c.463A>T (p.Arg155Ter)
|
|
|
NM_080424.4(SP110):c.470G>A (p.Ser157Asn)
|
|
|
NM_080424.4(SP110):c.470G>C (p.Ser157Thr)
|
|
|
NM_080424.4(SP110):c.473A>G (p.Glu158Gly)
|
|
|
NM_080424.4(SP110):c.500A>G (p.Asp167Gly)
|
|
|
NM_080424.4(SP110):c.507C>T (p.Ile169=)
|
|
|
NM_080424.4(SP110):c.513T>G (p.Ser171Arg)
|
rs529350933
|
|
NM_080424.4(SP110):c.569G>T (p.Gly190Val)
|
rs2044640933
|
|
NM_080424.4(SP110):c.583+19C>A
|
rs199743792
|
|
NM_080424.4(SP110):c.583+3G>A
|
|
|
NM_080424.4(SP110):c.583+6A>G
|
rs2148925559
|
|
NM_080424.4(SP110):c.584-18T>C
|
|
|
NM_080424.4(SP110):c.606C>A (p.Ser202=)
|
|
|
NM_080424.4(SP110):c.617C>A (p.Ala206Glu)
|
rs28930679
|
|
NM_080424.4(SP110):c.635A>G (p.Glu212Gly)
|
rs1047254
|
|
NM_080424.4(SP110):c.642del (p.Ser215fs)
|
rs397515361
|
|
NM_080424.4(SP110):c.646C>G (p.Leu216Val)
|
|
|
NM_080424.4(SP110):c.660T>C (p.Thr220=)
|
rs201655540
|
|
NM_080424.4(SP110):c.662T>C (p.Val221Ala)
|
|
|
NM_080424.4(SP110):c.665A>G (p.Gln222Arg)
|
|
|
NM_080424.4(SP110):c.667+14G>T
|
|
|
NM_080424.4(SP110):c.667+1dup
|
rs397515571
|
|
NM_080424.4(SP110):c.668-16_668-15del
|
|
|
NM_080424.4(SP110):c.668-17T>A
|
|
|
NM_080424.4(SP110):c.669G>A (p.Val223=)
|
|
|
NM_080424.4(SP110):c.671C>T (p.Ala224Val)
|
|
|
NM_080424.4(SP110):c.674G>A (p.Ser225Asn)
|
rs199743367
|
|
NM_080424.4(SP110):c.68T>C (p.Ile23Thr)
|
rs2148952479
|
|
NM_080424.4(SP110):c.699del (p.Asp234fs)
|
rs2148917380
|
|
NM_080424.4(SP110):c.718G>C (p.Glu240Gln)
|
rs2044474258
|
|
NM_080424.4(SP110):c.719A>G (p.Glu240Gly)
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NM_080424.4(SP110):c.725C>T (p.Pro242Leu)
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rs765229595
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NM_080424.4(SP110):c.728A>G (p.His243Arg)
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NM_080424.4(SP110):c.750_751delinsCC (p.Glu251Gln)
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rs2148917098
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NM_080424.4(SP110):c.751+12_751+16del
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NM_080424.4(SP110):c.751+16T>G
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NM_080424.4(SP110):c.751+19A>G
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rs180811113
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NM_080424.4(SP110):c.751+19A>T
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rs180811113
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NM_080424.4(SP110):c.78_79delinsAT (p.Ile27Leu)
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rs397515572
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NM_080424.4(SP110):c.802G>T (p.Val268Leu)
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NM_080424.4(SP110):c.80dup (p.His28fs)
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NM_080424.4(SP110):c.814C>A (p.Pro272Thr)
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NM_080424.4(SP110):c.829+14T>C
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NM_080424.4(SP110):c.829+15T>C
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rs372230531
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NM_080424.4(SP110):c.82C>T (p.His28Tyr)
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rs865950609
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NM_080424.4(SP110):c.830-12C>A
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NM_080424.4(SP110):c.830-20del
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NM_080424.4(SP110):c.832A>G (p.Lys278Glu)
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NM_080424.4(SP110):c.848G>C (p.Cys283Ser)
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rs754775004
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NM_080424.4(SP110):c.848G>T (p.Cys283Phe)
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rs754775004
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NM_080424.4(SP110):c.867A>G (p.Lys289=)
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NM_080424.4(SP110):c.877A>T (p.Lys293Ter)
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rs199845488
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NM_080424.4(SP110):c.87G>C (p.Lys29Asn)
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rs2148952318
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NM_080424.4(SP110):c.880A>G (p.Lys294Glu)
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NM_080424.4(SP110):c.886del (p.Ser296fs)
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NM_080424.4(SP110):c.898+19A>G
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NM_080424.4(SP110):c.8C>T (p.Thr3Ile)
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NM_080424.4(SP110):c.911C>T (p.Ser304Phe)
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rs2043304942
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NM_080424.4(SP110):c.918C>T (p.His306=)
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NM_080424.4(SP110):c.927A>G (p.Gln309=)
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rs2148861745
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NM_080424.4(SP110):c.933G>C (p.Lys311Asn)
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rs2148861711
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NM_080424.4(SP110):c.943del (p.Val315fs)
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