NM_022356.4(P3H1):c.466-43A>T
|
rs2816593
|
0.98803
|
NM_022356.4(P3H1):c.1720+286T>C
|
rs1018572
|
0.98681
|
NM_022356.4(P3H1):c.1839-141A>G
|
rs7552138
|
0.72763
|
NM_022356.4(P3H1):c.618+127C>T
|
rs2760070
|
0.69640
|
NM_022356.4(P3H1):c.*257G>A
|
rs6882
|
0.63640
|
NM_022356.3(P3H1):c.-165G>C
|
rs3738504
|
0.59343
|
NM_022356.4(P3H1):c.1570-314G>C
|
rs76550035
|
0.52965
|
NM_022356.4(P3H1):c.1839-30G>A
|
rs3738499
|
0.52507
|
NC_000001.11:g.42767206A>T
|
rs3738505
|
0.21968
|
NC_000001.11:g.42767127G>T
|
rs11210712
|
0.20074
|
NM_022356.4(P3H1):c.2055+74T>A
|
rs3738496
|
0.11033
|
NM_022356.4(P3H1):c.1838+74T>C
|
rs3738500
|
0.11031
|
NM_022356.4(P3H1):c.2055+17C>T
|
rs67014447
|
0.06792
|
NM_022356.4(P3H1):c.1570-176T>C
|
rs11576228
|
0.06335
|
NM_022356.4(P3H1):c.1915-20T>G
|
rs3738498
|
0.06305
|
NM_022356.4(P3H1):c.1080+147G>A
|
rs3738503
|
0.06301
|
NM_022356.4(P3H1):c.1914+109G>A
|
rs72661349
|
0.06040
|
NM_022356.4(P3H1):c.*77C>T
|
rs13871
|
0.06035
|
NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg)
|
rs6700677
|
0.06024
|
NM_022356.4(P3H1):c.1647G>A (p.Met549Ile)
|
rs11581921
|
0.05897
|
NM_022356.4(P3H1):c.1170+32G>A
|
rs3738502
|
0.05587
|
NM_022356.4(P3H1):c.139G>T (p.Ala47Ser)
|
rs55716016
|
0.04262
|
NM_022356.4(P3H1):c.941-52A>C
|
rs72956932
|
0.04240
|
NM_022356.4(P3H1):c.1569+43G>A
|
rs74070021
|
0.02354
|
NM_022356.4(P3H1):c.1838+182G>A
|
rs74070019
|
0.02336
|
NM_022356.4(P3H1):c.1284C>T (p.Ile428=)
|
rs61746642
|
0.01592
|
NM_022356.4(P3H1):c.1026C>T (p.Ala342=)
|
rs61100157
|
0.01581
|
NM_022356.4(P3H1):c.1569+3A>G
|
rs76871760
|
0.01579
|
NM_022356.4(P3H1):c.1720+299A>G
|
rs77991629
|
0.01577
|
NM_022356.4(P3H1):c.1812C>T (p.Pro604=)
|
rs34809608
|
0.01577
|
NM_022356.4(P3H1):c.1346-284G>A
|
rs79290834
|
0.01574
|
NM_022356.4(P3H1):c.1720+52C>T
|
rs75763761
|
0.01574
|
NM_022356.4(P3H1):c.1570-203T>C
|
rs146000205
|
0.01325
|
NM_022356.4(P3H1):c.978C>T (p.Thr326=)
|
rs74070022
|
0.01251
|
NM_022356.4(P3H1):c.1233G>A (p.Arg411=)
|
rs61746653
|
0.01103
|
NM_022356.4(P3H1):c.941-93G>C
|
rs116535864
|
0.01061
|
NM_022356.4(P3H1):c.1080+42C>T
|
rs12127559
|
0.00995
|
NM_022356.4(P3H1):c.1838+197C>T
|
rs45549742
|
0.00988
|
NM_022356.4(P3H1):c.1171-154G>A
|
rs144904688
|
0.00979
|
NM_022356.4(P3H1):c.618+165G>A
|
rs114059365
|
0.00869
|
NM_022356.4(P3H1):c.2055+70G>T
|
rs115690038
|
0.00864
|
NM_022356.4(P3H1):c.1721-101G>A
|
rs115436009
|
0.00795
|
NM_022356.4(P3H1):c.611C>A (p.Pro204His)
|
rs77208721
|
0.00751
|
NM_022356.4(P3H1):c.940+90A>G
|
rs114545255
|
0.00700
|
NM_022356.4(P3H1):c.-45C>T
|
rs183564323
|
0.00663
|
NM_022356.4(P3H1):c.2056-157C>T
|
rs80296318
|
0.00662
|
NM_022356.4(P3H1):c.619-47G>T
|
rs72956934
|
0.00648
|
NM_022356.4(P3H1):c.2055+193G>A
|
rs116577636
|
0.00625
|
NM_022356.4(P3H1):c.1080+115A>G
|
rs7521929
|
0.00613
|
NM_022356.4(P3H1):c.1716C>T (p.Ile572=)
|
rs35500164
|
0.00563
|
NM_022356.4(P3H1):c.466-60G>C
|
rs151287070
|
0.00449
|
NM_022356.4(P3H1):c.1839-67G>A
|
rs146671123
|
0.00426
|
NM_022356.4(P3H1):c.2115C>T (p.Leu705=)
|
rs199887811
|
0.00409
|
NM_022356.4(P3H1):c.1720+284G>A
|
rs138377612
|
0.00403
|
NM_022356.4(P3H1):c.1839-177del
|
rs143712697
|
0.00390
|
NM_022356.4(P3H1):c.1345+225G>A
|
rs75941006
|
0.00378
|
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly)
|
rs113593896
|
0.00341
|
NM_022356.4(P3H1):c.1720+241G>A
|
rs534899129
|
0.00339
|
NM_022356.4(P3H1):c.1081-254G>T
|
rs149024016
|
0.00337
|
NM_022356.4(P3H1):c.1930C>A (p.Gln644Lys)
|
rs3738497
|
0.00321
|
NM_022356.4(P3H1):c.1473+5G>T
|
rs114044880
|
0.00294
|
NM_022356.4(P3H1):c.*262C>T
|
rs41303415
|
0.00257
|
NM_022356.4(P3H1):c.1501C>T (p.Arg501Trp)
|
rs115108794
|
0.00209
|
NM_022356.4(P3H1):c.33A>G (p.Thr11=)
|
rs144378478
|
0.00140
|
NM_022356.4(P3H1):c.1915-23C>G
|
rs74588317
|
0.00116
|
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg)
|
rs139259804
|
0.00103
|
NM_022356.4(P3H1):c.1529A>G (p.Asn510Ser)
|
rs149894086
|
0.00092
|
NM_022356.4(P3H1):c.-57G>T
|
rs190782130
|
0.00089
|
NM_022356.4(P3H1):c.6G>A (p.Ala2=)
|
rs899406860
|
0.00073
|
NM_022356.4(P3H1):c.1080+1G>T
|
rs72659351
|
0.00068
|
NM_022356.4(P3H1):c.2147G>C (p.Gly716Ala)
|
rs573577299
|
0.00068
|
NM_022356.4(P3H1):c.1806A>C (p.Lys602Asn)
|
rs144336336
|
0.00066
|
NM_022356.4(P3H1):c.194G>A (p.Arg65Gln)
|
rs372710498
|
0.00065
|
NM_022356.4(P3H1):c.727C>T (p.Arg243Cys)
|
rs146982397
|
0.00056
|
NM_022356.4(P3H1):c.1795G>A (p.Val599Met)
|
rs140254470
|
0.00050
|
NM_022356.4(P3H1):c.2055+112G>A
|
rs146002380
|
0.00042
|
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala)
|
rs533729683
|
0.00038
|
NM_022356.4(P3H1):c.1838+9G>A
|
rs374946028
|
0.00036
|
NM_022356.4(P3H1):c.918T>C (p.Tyr306=)
|
rs147898950
|
0.00036
|
NM_022356.4(P3H1):c.1660C>T (p.Arg554Cys)
|
rs138860050
|
0.00033
|
NM_022356.4(P3H1):c.1963A>G (p.Thr655Ala)
|
rs138939786
|
0.00032
|
NM_022356.4(P3H1):c.1720+4G>A
|
rs371232413
|
0.00031
|
NM_022356.4(P3H1):c.693G>A (p.Ala231=)
|
rs149113630
|
0.00027
|
NM_022356.4(P3H1):c.1761C>T (p.His587=)
|
rs148338728
|
0.00024
|
NM_022356.4(P3H1):c.2198A>G (p.Lys733Arg)
|
rs769986758
|
0.00023
|
NM_022356.4(P3H1):c.1428C>T (p.Gly476=)
|
rs141786883
|
0.00022
|
NM_022356.4(P3H1):c.1838+5G>T
|
rs377368053
|
0.00022
|
NM_022356.4(P3H1):c.2155G>A (p.Glu719Lys)
|
rs372407655
|
0.00022
|
NM_022356.4(P3H1):c.1740G>A (p.Lys580=)
|
rs201381243
|
0.00021
|
NM_022356.4(P3H1):c.1425C>T (p.Asp475=)
|
rs373467876
|
0.00019
|
NM_022356.4(P3H1):c.619-11C>T
|
rs202219307
|
0.00019
|
NM_022356.4(P3H1):c.1339C>T (p.Arg447Trp)
|
rs150951532
|
0.00017
|
NM_022356.4(P3H1):c.1232G>A (p.Arg411Gln)
|
rs148636462
|
0.00016
|
NM_022356.4(P3H1):c.1721-4C>T
|
rs200901466
|
0.00015
|
NM_022356.4(P3H1):c.1071C>T (p.Gly357=)
|
rs202234531
|
0.00014
|
NM_022356.4(P3H1):c.1307C>T (p.Thr436Ile)
|
rs143729962
|
0.00014
|
NM_022356.4(P3H1):c.435C>G (p.Pro145=)
|
rs759352609
|
0.00014
|
NM_022356.4(P3H1):c.426G>T (p.Lys142Asn)
|
rs200334947
|
0.00013
|
NM_022356.4(P3H1):c.689C>T (p.Ala230Val)
|
rs369342678
|
0.00013
|
NM_022356.4(P3H1):c.1068C>T (p.Ile356=)
|
rs373669933
|
0.00011
|
NM_022356.4(P3H1):c.1087A>G (p.Lys363Glu)
|
rs146476495
|
0.00011
|
NM_022356.4(P3H1):c.1402G>T (p.Gly468Cys)
|
rs142844222
|
0.00010
|
NM_022356.4(P3H1):c.1517C>G (p.Pro506Arg)
|
rs3738501
|
0.00010
|
NM_022356.4(P3H1):c.1601G>A (p.Ser534Asn)
|
rs761150997
|
0.00010
|
NM_022356.4(P3H1):c.1429G>A (p.Val477Ile)
|
rs201170161
|
0.00009
|
NM_022356.4(P3H1):c.327C>T (p.Phe109=)
|
rs370773974
|
0.00009
|
NM_022356.4(P3H1):c.1243G>A (p.Val415Ile)
|
rs147423732
|
0.00008
|
NM_022356.4(P3H1):c.783C>T (p.Asn261=)
|
rs751705501
|
0.00008
|
NM_022356.4(P3H1):c.1626G>A (p.Thr542=)
|
rs577059613
|
0.00007
|
NM_022356.4(P3H1):c.81G>C (p.Glu27Asp)
|
rs201750444
|
0.00007
|
NM_022356.4(P3H1):c.1131C>T (p.Phe377=)
|
rs750668333
|
0.00006
|
NM_022356.4(P3H1):c.1224G>A (p.Lys408=)
|
rs778202277
|
0.00006
|
NM_022356.4(P3H1):c.1579G>A (p.Glu527Lys)
|
rs962784379
|
0.00006
|
NM_022356.4(P3H1):c.1828C>T (p.Arg610Cys)
|
rs150808079
|
0.00006
|
NM_022356.4(P3H1):c.1838+8C>T
|
rs549922561
|
0.00006
|
NM_022356.4(P3H1):c.1908C>T (p.Thr636=)
|
rs368979453
|
0.00006
|
NM_022356.4(P3H1):c.756C>T (p.Tyr252=)
|
rs770943260
|
0.00006
|
NM_022356.4(P3H1):c.*116C>T
|
rs746036609
|
0.00005
|
NM_022356.4(P3H1):c.2100A>G (p.Pro700=)
|
rs372711844
|
0.00005
|
NM_022356.4(P3H1):c.807A>G (p.Thr269=)
|
rs750943926
|
0.00005
|
NM_022356.4(P3H1):c.1072C>A (p.Pro358Thr)
|
rs150509550
|
0.00004
|
NM_022356.4(P3H1):c.1081-9T>C
|
rs778680764
|
0.00004
|
NM_022356.4(P3H1):c.113T>C (p.Leu38Pro)
|
rs528960354
|
0.00004
|
NM_022356.4(P3H1):c.1224-14G>A
|
rs368063653
|
0.00004
|
NM_022356.4(P3H1):c.1285G>A (p.Glu429Lys)
|
rs141759655
|
0.00004
|
NM_022356.4(P3H1):c.1472A>G (p.Asn491Ser)
|
rs754714794
|
0.00004
|
NM_022356.4(P3H1):c.1637G>A (p.Arg546Gln)
|
rs758596191
|
0.00004
|
NM_022356.4(P3H1):c.1785C>T (p.Ala595=)
|
rs369763531
|
0.00004
|
NM_022356.4(P3H1):c.1830C>T (p.Arg610=)
|
rs780329868
|
0.00004
|
NM_022356.4(P3H1):c.1831G>T (p.Asp611Tyr)
|
rs200935208
|
0.00004
|
NM_022356.4(P3H1):c.1945G>A (p.Val649Met)
|
rs775492271
|
0.00004
|
NM_022356.4(P3H1):c.2006G>A (p.Arg669His)
|
rs578161008
|
0.00004
|
NM_022356.4(P3H1):c.2032C>A (p.Leu678Met)
|
rs202209556
|
0.00004
|
NM_022356.4(P3H1):c.2055+12T>C
|
rs372785606
|
0.00004
|
NM_022356.4(P3H1):c.2190G>A (p.Ser730=)
|
rs537555305
|
0.00004
|
NM_022356.4(P3H1):c.809-5T>C
|
rs781474350
|
0.00004
|
NM_022356.4(P3H1):c.811C>T (p.His271Tyr)
|
rs374314894
|
0.00004
|
NM_022356.4(P3H1):c.822G>C (p.Gln274His)
|
rs372301077
|
0.00004
|
NM_022356.4(P3H1):c.935A>G (p.Tyr312Cys)
|
rs374135158
|
0.00004
|
NM_022356.4(P3H1):c.*5G>A
|
rs994709040
|
0.00003
|
NM_022356.4(P3H1):c.1076G>A (p.Arg359His)
|
rs559371057
|
0.00003
|
NM_022356.4(P3H1):c.1135G>A (p.Ala379Thr)
|
rs762013462
|
0.00003
|
NM_022356.4(P3H1):c.1208T>C (p.Leu403Ser)
|
rs143930669
|
0.00003
|
NM_022356.4(P3H1):c.1215G>A (p.Glu405=)
|
rs527679322
|
0.00003
|
NM_022356.4(P3H1):c.1326G>A (p.Val442=)
|
rs150032924
|
0.00003
|
NM_022356.4(P3H1):c.1411C>T (p.Arg471Trp)
|
rs147230023
|
0.00003
|
NM_022356.4(P3H1):c.1412G>T (p.Arg471Leu)
|
rs377645905
|
0.00003
|
NM_022356.4(P3H1):c.1625C>T (p.Thr542Met)
|
rs201236270
|
0.00003
|
NM_022356.4(P3H1):c.1640G>A (p.Arg547His)
|
rs750685729
|
0.00003
|
NM_022356.4(P3H1):c.1683T>C (p.Phe561=)
|
rs769277923
|
0.00003
|
NM_022356.4(P3H1):c.1686C>T (p.Ser562=)
|
rs747701845
|
0.00003
|
NM_022356.4(P3H1):c.1910T>A (p.Val637Glu)
|
rs1385918597
|
0.00003
|
NM_022356.4(P3H1):c.2055+18G>A
|
rs137853890
|
0.00003
|
NM_022356.4(P3H1):c.2055+48G>A
|
rs773921230
|
0.00003
|
NM_022356.4(P3H1):c.2104G>A (p.Glu702Lys)
|
rs565510744
|
0.00003
|
NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys)
|
rs771006240
|
0.00003
|
NM_022356.4(P3H1):c.394C>T (p.Leu132Phe)
|
rs769782854
|
0.00003
|
NM_022356.4(P3H1):c.511G>A (p.Val171Met)
|
rs997474863
|
0.00003
|
NM_022356.4(P3H1):c.566T>C (p.Met189Thr)
|
rs776145937
|
0.00003
|
NM_022356.4(P3H1):c.629G>A (p.Arg210Gln)
|
rs373561725
|
0.00003
|
NM_022356.4(P3H1):c.739G>A (p.Glu247Lys)
|
rs760265361
|
0.00003
|
NM_022356.4(P3H1):c.970G>A (p.Ala324Thr)
|
rs962560071
|
0.00003
|
NM_022356.4(P3H1):c.1081-5C>T
|
rs1652365990
|
0.00002
|
NM_022356.4(P3H1):c.1134C>T (p.Phe378=)
|
rs765160832
|
0.00002
|
NM_022356.4(P3H1):c.1223+19C>T
|
rs374036781
|
0.00002
|
NM_022356.4(P3H1):c.1231C>T (p.Arg411Trp)
|
rs146128481
|
0.00002
|
NM_022356.4(P3H1):c.1237A>G (p.Thr413Ala)
|
rs755460349
|
0.00002
|
NM_022356.4(P3H1):c.1459C>T (p.Gln487Ter)
|
rs1229143002
|
0.00002
|
NM_022356.4(P3H1):c.1482A>G (p.Ala494=)
|
rs749992555
|
0.00002
|
NM_022356.4(P3H1):c.1559A>G (p.Lys520Arg)
|
rs752109889
|
0.00002
|
NM_022356.4(P3H1):c.1616A>G (p.Tyr539Cys)
|
rs772654104
|
0.00002
|
NM_022356.4(P3H1):c.1620C>T (p.Asn540=)
|
rs140334418
|
0.00002
|
NM_022356.4(P3H1):c.1915-18C>T
|
rs757432937
|
0.00002
|
NM_022356.4(P3H1):c.1944C>T (p.Ala648=)
|
rs760909376
|
0.00002
|
NM_022356.4(P3H1):c.2053C>T (p.Arg685Trp)
|
rs774693500
|
0.00002
|
NM_022356.4(P3H1):c.2128C>T (p.Pro710Ser)
|
rs1486613257
|
0.00002
|
NM_022356.4(P3H1):c.2154C>T (p.Pro718=)
|
rs775626323
|
0.00002
|
NM_022356.4(P3H1):c.326T>G (p.Phe109Cys)
|
rs761389160
|
0.00002
|
NM_022356.4(P3H1):c.7G>A (p.Val3Ile)
|
rs773870737
|
0.00002
|
NM_022356.4(P3H1):c.830A>G (p.Asn277Ser)
|
rs200403014
|
0.00002
|
NM_022356.4(P3H1):c.852G>A (p.Thr284=)
|
rs765846480
|
0.00002
|
NM_022356.4(P3H1):c.951T>C (p.Tyr317=)
|
rs758079491
|
0.00002
|
NM_022356.4(P3H1):c.953C>T (p.Thr318Ile)
|
rs201020061
|
0.00002
|
NM_022356.3(P3H1):c.-106G>A
|
rs1190692389
|
0.00001
|
NM_022356.4(P3H1):c.-29C>G
|
rs1043265003
|
0.00001
|
NM_022356.4(P3H1):c.102G>T (p.Thr34=)
|
rs1361387169
|
0.00001
|
NM_022356.4(P3H1):c.1069G>A (p.Gly357Ser)
|
rs1181269848
|
0.00001
|
NM_022356.4(P3H1):c.1075C>T (p.Arg359Cys)
|
rs548639069
|
0.00001
|
NM_022356.4(P3H1):c.1081-14T>C
|
rs1343062442
|
0.00001
|
NM_022356.4(P3H1):c.1081-7C>A
|
rs201868125
|
0.00001
|
NM_022356.4(P3H1):c.1086C>T (p.Ala362=)
|
rs777090883
|
0.00001
|
NM_022356.4(P3H1):c.1096C>T (p.Arg366Ter)
|
rs752575140
|
0.00001
|
NM_022356.4(P3H1):c.1097G>A (p.Arg366Gln)
|
rs781162194
|
0.00001
|
NM_022356.4(P3H1):c.1103G>A (p.Arg368Gln)
|
rs751395741
|
0.00001
|
NM_022356.4(P3H1):c.1141G>C (p.Asp381His)
|
rs769330518
|
0.00001
|
NM_022356.4(P3H1):c.1170+5G>C
|
rs72659353
|
0.00001
|
NM_022356.4(P3H1):c.1176A>G (p.Ser392=)
|
rs748354511
|
0.00001
|
NM_022356.4(P3H1):c.1242C>T (p.Ala414=)
|
rs780173522
|
0.00001
|
NM_022356.4(P3H1):c.1246C>T (p.Arg416Cys)
|
rs199597388
|
0.00001
|
NM_022356.4(P3H1):c.1247G>A (p.Arg416His)
|
rs763373396
|
0.00001
|
NM_022356.4(P3H1):c.1249A>G (p.Ile417Val)
|
rs1389727493
|
0.00001
|
NM_022356.4(P3H1):c.1290C>G (p.Thr430=)
|
rs771496600
|
0.00001
|
NM_022356.4(P3H1):c.1345+1G>A
|
rs780595278
|
0.00001
|
NM_022356.4(P3H1):c.1346-20G>C
|
rs1462110728
|
0.00001
|
NM_022356.4(P3H1):c.1359G>T (p.Leu453=)
|
rs529980414
|
0.00001
|
NM_022356.4(P3H1):c.1367G>A (p.Gly456Asp)
|
rs781335485
|
0.00001
|
NM_022356.4(P3H1):c.146G>A (p.Gly49Glu)
|
rs1035425402
|
0.00001
|
NM_022356.4(P3H1):c.1474-16G>A
|
rs756502315
|
0.00001
|
NM_022356.4(P3H1):c.148G>A (p.Asp50Asn)
|
rs375176399
|
0.00001
|
NM_022356.4(P3H1):c.1502G>A (p.Arg501Gln)
|
rs557547513
|
0.00001
|
NM_022356.4(P3H1):c.1523C>A (p.Thr508Asn)
|
rs759787229
|
0.00001
|
NM_022356.4(P3H1):c.1527C>T (p.Pro509=)
|
rs1349076527
|
0.00001
|
NM_022356.4(P3H1):c.1600A>G (p.Ser534Gly)
|
rs764540430
|
0.00001
|
NM_022356.4(P3H1):c.1613A>G (p.Tyr538Cys)
|
rs748917248
|
0.00001
|
NM_022356.4(P3H1):c.1636C>T (p.Arg546Trp)
|
rs779744195
|
0.00001
|
NM_022356.4(P3H1):c.1639C>T (p.Arg547Cys)
|
rs1440258565
|
0.00001
|
NM_022356.4(P3H1):c.1645A>G (p.Met549Val)
|
rs201036797
|
0.00001
|
NM_022356.4(P3H1):c.1661G>A (p.Arg554His)
|
rs376337637
|
0.00001
|
NM_022356.4(P3H1):c.1670C>T (p.Thr557Met)
|
rs762603538
|
0.00001
|
NM_022356.4(P3H1):c.1706G>A (p.Arg569His)
|
rs758131023
|
0.00001
|
NM_022356.4(P3H1):c.1762G>A (p.Val588Met)
|
rs763655582
|
0.00001
|
NM_022356.4(P3H1):c.1786G>A (p.Glu596Lys)
|
rs771866490
|
0.00001
|
NM_022356.4(P3H1):c.1792C>T (p.Leu598Phe)
|
rs1344810292
|
0.00001
|
NM_022356.4(P3H1):c.1794C>T (p.Leu598=)
|
rs1343750686
|
0.00001
|
NM_022356.4(P3H1):c.1829G>A (p.Arg610His)
|
rs538936362
|
0.00001
|
NM_022356.4(P3H1):c.1881T>C (p.Phe627=)
|
rs142868351
|
0.00001
|
NM_022356.4(P3H1):c.1889C>T (p.Thr630Ile)
|
rs751516211
|
0.00001
|
NM_022356.4(P3H1):c.1909G>A (p.Val637Met)
|
rs983158177
|
0.00001
|
NM_022356.4(P3H1):c.1919A>G (p.Glu640Gly)
|
rs764935317
|
0.00001
|
NM_022356.4(P3H1):c.193C>T (p.Arg65Trp)
|
rs1478435101
|
0.00001
|
NM_022356.4(P3H1):c.1992C>T (p.Val664=)
|
rs1022372763
|
0.00001
|
NM_022356.4(P3H1):c.1A>G (p.Met1Val)
|
rs761033636
|
0.00001
|
NM_022356.4(P3H1):c.2005C>T (p.Arg669Cys)
|
rs1482209044
|
0.00001
|
NM_022356.4(P3H1):c.2042G>A (p.Arg681Gln)
|
rs575594548
|
0.00001
|
NM_022356.4(P3H1):c.2050G>A (p.Glu684Lys)
|
rs759714439
|
0.00001
|
NM_022356.4(P3H1):c.2110G>C (p.Asp704His)
|
rs775358603
|
0.00001
|
NM_022356.4(P3H1):c.2145G>A (p.Gln715=)
|
rs1306746191
|
0.00001
|
NM_022356.4(P3H1):c.357C>T (p.Cys119=)
|
rs1351741844
|
0.00001
|
NM_022356.4(P3H1):c.368G>C (p.Cys123Ser)
|
rs1310667421
|
0.00001
|
NM_022356.4(P3H1):c.372C>T (p.Leu124=)
|
rs759316608
|
0.00001
|
NM_022356.4(P3H1):c.388C>G (p.His130Asp)
|
rs1348446019
|
0.00001
|
NM_022356.4(P3H1):c.392C>A (p.Ser131Ter)
|
rs72659347
|
0.00001
|
NM_022356.4(P3H1):c.396C>G (p.Leu132=)
|
rs748627996
|
0.00001
|
NM_022356.4(P3H1):c.420C>T (p.Phe140=)
|
rs1027100537
|
0.00001
|
NM_022356.4(P3H1):c.440A>G (p.Asn147Ser)
|
rs1653008220
|
0.00001
|
NM_022356.4(P3H1):c.462C>G (p.Phe154Leu)
|
rs1404923329
|
0.00001
|
NM_022356.4(P3H1):c.582G>C (p.Glu194Asp)
|
rs1235483593
|
0.00001
|
NM_022356.4(P3H1):c.585C>T (p.Ala195=)
|
rs1306407571
|
0.00001
|
NM_022356.4(P3H1):c.599T>G (p.Leu200Arg)
|
rs747865105
|
0.00001
|
NM_022356.4(P3H1):c.618+10A>G
|
rs575664473
|
0.00001
|
NM_022356.4(P3H1):c.618+4A>G
|
rs191121940
|
0.00001
|
NM_022356.4(P3H1):c.645C>T (p.Leu215=)
|
rs778978851
|
0.00001
|
NM_022356.4(P3H1):c.646T>G (p.Tyr216Asp)
|
rs1378406205
|
0.00001
|
NM_022356.4(P3H1):c.653A>C (p.Glu218Ala)
|
rs753716259
|
0.00001
|
NM_022356.4(P3H1):c.664C>T (p.Gln222Ter)
|
rs1214987088
|
0.00001
|
NM_022356.4(P3H1):c.698A>C (p.Gln233Pro)
|
rs903215732
|
0.00001
|
NM_022356.4(P3H1):c.714C>T (p.Ala238=)
|
rs1652573953
|
0.00001
|
NM_022356.4(P3H1):c.716A>G (p.Tyr239Cys)
|
rs201104050
|
0.00001
|
NM_022356.4(P3H1):c.737G>A (p.Cys246Tyr)
|
rs1199863657
|
0.00001
|
NM_022356.4(P3H1):c.749A>G (p.Tyr250Cys)
|
rs1250740001
|
0.00001
|
NM_022356.4(P3H1):c.760G>A (p.Gly254Ser)
|
rs914752084
|
0.00001
|
NM_022356.4(P3H1):c.765C>A (p.Tyr255Ter)
|
rs72659349
|
0.00001
|
NM_022356.4(P3H1):c.79G>A (p.Glu27Lys)
|
rs746863189
|
0.00001
|
NM_022356.4(P3H1):c.826C>G (p.Leu276Val)
|
rs757498418
|
0.00001
|
NM_022356.4(P3H1):c.874C>G (p.Arg292Gly)
|
rs773269078
|
0.00001
|
NM_022356.4(P3H1):c.874C>T (p.Arg292Ter)
|
rs773269078
|
0.00001
|
NM_022356.4(P3H1):c.885C>T (p.Pro295=)
|
rs776525279
|
0.00001
|
NM_022356.4(P3H1):c.88T>C (p.Trp30Arg)
|
rs1172430769
|
0.00001
|
NM_022356.4(P3H1):c.906G>A (p.Ser302=)
|
rs772183831
|
0.00001
|
NM_022356.4(P3H1):c.908A>T (p.His303Leu)
|
rs1191275386
|
0.00001
|
NM_022356.4(P3H1):c.934T>C (p.Tyr312His)
|
rs1180298586
|
0.00001
|
NM_022356.4(P3H1):c.939C>G (p.Asn313Lys)
|
rs1373305113
|
0.00001
|
NM_022356.4(P3H1):c.940+1G>T
|
rs762525651
|
0.00001
|
NM_022356.4(P3H1):c.941-1G>A
|
rs778209371
|
0.00001
|
NM_022356.4(P3H1):c.980A>G (p.Tyr327Cys)
|
rs1454717997
|
0.00001
|
NM_022356.4(P3H1):c.993C>T (p.Phe331=)
|
rs1250792335
|
0.00001
|
NC_000001.10:g.(?_43218172)_(43218675_?)del
|
|
|
NM_001243246.2(P3H1):c.2068_2086dup (p.Trp696delinsSerSerGlyTer)
|
|
|
NM_022356.3(P3H1):c.-95A>G
|
rs1653060930
|
|
NM_022356.4(P3H1):c.*4_*10del
|
rs767524042
|
|
NM_022356.4(P3H1):c.1002C>T (p.Asp334=)
|
|
|
NM_022356.4(P3H1):c.1003G>A (p.Glu335Lys)
|
rs941343754
|
|
NM_022356.4(P3H1):c.1005G>A (p.Glu335=)
|
|
|
NM_022356.4(P3H1):c.1014C>T (p.Asn338=)
|
rs1652489003
|
|
NM_022356.4(P3H1):c.1018A>G (p.Asn340Asp)
|
|
|
NM_022356.4(P3H1):c.1019A>G (p.Asn340Ser)
|
rs759697322
|
|
NM_022356.4(P3H1):c.1021T>C (p.Leu341=)
|
|
|
NM_022356.4(P3H1):c.1021T>G (p.Leu341Val)
|
rs1652488613
|
|
NM_022356.4(P3H1):c.1026del (p.Tyr343fs)
|
|
|
NM_022356.4(P3H1):c.1027T>C (p.Tyr343His)
|
|
|
NM_022356.4(P3H1):c.1035A>T (p.Ala345=)
|
|
|
NM_022356.4(P3H1):c.103C>A (p.Pro35Thr)
|
|
|
NM_022356.4(P3H1):c.103C>T (p.Pro35Ser)
|
rs2124176478
|
|
NM_022356.4(P3H1):c.1051G>T (p.Glu351Ter)
|
|
|
NM_022356.4(P3H1):c.1056C>T (p.His352=)
|
|
|
NM_022356.4(P3H1):c.105_120del (p.Asp36fs)
|
|
|
NM_022356.4(P3H1):c.1060A>T (p.Arg354Ter)
|
rs1570472113
|
|
NM_022356.4(P3H1):c.1066A>T (p.Ile356Phe)
|
|
|
NM_022356.4(P3H1):c.1067T>A (p.Ile356Asn)
|
rs1184804170
|
|
NM_022356.4(P3H1):c.1074C>A (p.Pro358=)
|
|
|
NM_022356.4(P3H1):c.1075C>G (p.Arg359Gly)
|
rs548639069
|
|
NM_022356.4(P3H1):c.1080+12C>G
|
|
|
NM_022356.4(P3H1):c.1080+14_1080+17del
|
|
|
NM_022356.4(P3H1):c.1080+17T>C
|
|
|
NM_022356.4(P3H1):c.1080+3G>A
|
|
|
NM_022356.4(P3H1):c.1080+3G>C
|
|
|
NM_022356.4(P3H1):c.1081-10T>A
|
|
|
NM_022356.4(P3H1):c.1081-132AG[2]
|
rs60025227
|
|
NM_022356.4(P3H1):c.1081-13T>G
|
|
|
NM_022356.4(P3H1):c.1081-20_1081-18del
|
|
|
NM_022356.4(P3H1):c.1081-4T>C
|
rs2124125449
|
|
NM_022356.4(P3H1):c.1081-6C>T
|
rs1652366135
|
|
NM_022356.4(P3H1):c.1090G>T (p.Glu364Ter)
|
|
|
NM_022356.4(P3H1):c.1092G>A (p.Glu364=)
|
|
|
NM_022356.4(P3H1):c.1098A>G (p.Arg366=)
|
|
|
NM_022356.4(P3H1):c.109C>G (p.Leu37Val)
|
|
|
NM_022356.4(P3H1):c.1102C>G (p.Arg368Gly)
|
rs118203996
|
|
NM_022356.4(P3H1):c.1102C>T (p.Arg368Ter)
|
rs118203996
|
|
NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter)
|
rs140468248
|
|
NM_022356.4(P3H1):c.112C>T (p.Leu38Phe)
|
rs2124176450
|
|
NM_022356.4(P3H1):c.1140T>C (p.Tyr380=)
|
|
|
NM_022356.4(P3H1):c.1169C>T (p.Pro390Leu)
|
|
|
NM_022356.4(P3H1):c.1170+13A>G
|
|
|
NM_022356.4(P3H1):c.1170+14C>T
|
rs1483515684
|
|
NM_022356.4(P3H1):c.1170+15A>G
|
|
|
NM_022356.4(P3H1):c.1170+17G>A
|
|
|
NM_022356.4(P3H1):c.1170+18A>T
|
rs2124124471
|
|
NM_022356.4(P3H1):c.1170+19G>A
|
|
|
NM_022356.4(P3H1):c.1170+2T>C
|
|
|
NM_022356.4(P3H1):c.1170+6C>G
|
rs1652352034
|
|
NM_022356.4(P3H1):c.1170+8dup
|
|
|
NM_022356.4(P3H1):c.1170+9G>A
|
rs786205443
|
|
NM_022356.4(P3H1):c.1170G>A (p.Pro390=)
|
|
|
NM_022356.4(P3H1):c.1171-14C>T
|
|
|
NM_022356.4(P3H1):c.1171-2A>T
|
rs1013320485
|
|
NM_022356.4(P3H1):c.1171-4T>C
|
|
|
NM_022356.4(P3H1):c.1171_1183del (p.Asp391fs)
|
|
|
NM_022356.4(P3H1):c.1175C>T (p.Ser392Leu)
|
|
|
NM_022356.4(P3H1):c.1182T>G (p.Thr394=)
|
|
|
NM_022356.4(P3H1):c.1188A>G (p.Glu396=)
|
|
|
NM_022356.4(P3H1):c.1197T>A (p.Ile399=)
|
|
|
NM_022356.4(P3H1):c.1205_1206del (p.Arg402fs)
|
|
|
NM_022356.4(P3H1):c.120C>G (p.Ala40=)
|
rs2124176366
|
|
NM_022356.4(P3H1):c.1212A>G (p.Gln404=)
|
|
|
NM_022356.4(P3H1):c.1218A>G (p.Lys406=)
|
|
|
NM_022356.4(P3H1):c.1221G>A (p.Gln407=)
|
rs886043833
|
|
NM_022356.4(P3H1):c.1222A>T (p.Lys408Ter)
|
rs1557569037
|
|
NM_022356.4(P3H1):c.1223+10T>C
|
|
|
NM_022356.4(P3H1):c.1223+11T>C
|
|
|
NM_022356.4(P3H1):c.1223+11_1223+13dup
|
|
|
NM_022356.4(P3H1):c.1223+12G>A
|
|
|
NM_022356.4(P3H1):c.1223+14A>G
|
|
|
NM_022356.4(P3H1):c.1223+2T>C
|
rs2124122351
|
|
NM_022356.4(P3H1):c.1223+2T>G
|
|
|
NM_022356.4(P3H1):c.1223+8C>T
|
rs2124122287
|
|
NM_022356.4(P3H1):c.1223+9C>T
|
rs768165212
|
|
NM_022356.4(P3H1):c.1224-10G>A
|
|
|
NM_022356.4(P3H1):c.1224-12C>A
|
|
|
NM_022356.4(P3H1):c.1224-13G>A
|
|
|
NM_022356.4(P3H1):c.1224-15C>T
|
|
|
NM_022356.4(P3H1):c.1224-20C>G
|
rs1458163337
|
|
NM_022356.4(P3H1):c.1224-20C>T
|
|
|
NM_022356.4(P3H1):c.1224-2A>G
|
|
|
NM_022356.4(P3H1):c.1224-4A>G
|
rs1652311986
|
|
NM_022356.4(P3H1):c.1224-57_1253del
|
|
|
NM_022356.4(P3H1):c.1224-79G>A
|
|
|
NM_022356.4(P3H1):c.1224-8G>A
|
|
|
NM_022356.4(P3H1):c.1224-8G>C
|
rs749297067
|
|
NM_022356.4(P3H1):c.1226C>G (p.Ser409Ter)
|
rs1652311421
|
|
NM_022356.4(P3H1):c.1242_1248del (p.Val415fs)
|
|
|
NM_022356.4(P3H1):c.1243G>T (p.Val415Leu)
|
|
|
NM_022356.4(P3H1):c.1256A>G (p.Gln419Arg)
|
|
|
NM_022356.4(P3H1):c.1260G>A (p.Glu420=)
|
|
|
NM_022356.4(P3H1):c.1269C>T (p.Asn423=)
|
rs1553142371
|
|
NM_022356.4(P3H1):c.1281A>T (p.Glu427Asp)
|
|
|
NM_022356.4(P3H1):c.129C>T (p.Thr43=)
|
|
|
NM_022356.4(P3H1):c.1305G>A (p.Lys435=)
|
|
|
NM_022356.4(P3H1):c.1308C>G (p.Thr436=)
|
rs111588746
|
|
NM_022356.4(P3H1):c.1308C>T (p.Thr436=)
|
rs111588746
|
|
NM_022356.4(P3H1):c.1316C>G (p.Ser439Ter)
|
|
|
NM_022356.4(P3H1):c.1318C>T (p.Leu440=)
|
|
|
NM_022356.4(P3H1):c.1325T>C (p.Val442Ala)
|
rs1308933452
|
|
NM_022356.4(P3H1):c.1342G>A (p.Glu448Lys)
|
|
|
NM_022356.4(P3H1):c.1345+13A>G
|
|
|
NM_022356.4(P3H1):c.1345+15A>C
|
|
|
NM_022356.4(P3H1):c.1345+17A>G
|
|
|
NM_022356.4(P3H1):c.1345+7G>A
|
|
|
NM_022356.4(P3H1):c.1345G>A (p.Gly449Ser)
|
|
|
NM_022356.4(P3H1):c.1346-12A>G
|
|
|
NM_022356.4(P3H1):c.1346-15G>T
|
|
|
NM_022356.4(P3H1):c.1346-1G>A
|
|
|
NM_022356.4(P3H1):c.1346-1G>C
|
rs886042897
|
|
NM_022356.4(P3H1):c.1346-7T>C
|
|
|
NM_022356.4(P3H1):c.1346G>A (p.Gly449Asp)
|
|
|
NM_022356.4(P3H1):c.1350C>T (p.Gly450=)
|
|
|
NM_022356.4(P3H1):c.1351_1357del (p.Pro451fs)
|
|
|
NM_022356.4(P3H1):c.1354C>T (p.Leu452=)
|
rs1157398498
|
|
NM_022356.4(P3H1):c.1365_1366delinsC (p.Glu455fs)
|
rs137853952
|
|
NM_022356.4(P3H1):c.1367del (p.Gly456fs)
|
|
|
NM_022356.4(P3H1):c.1383_1389dup (p.Lys464fs)
|
|
|
NM_022356.4(P3H1):c.1391A>G (p.Lys464Arg)
|
|
|
NM_022356.4(P3H1):c.1395C>G (p.Leu465=)
|
|
|
NM_022356.4(P3H1):c.1406C>T (p.Ser469Phe)
|
rs2124110566
|
|
NM_022356.4(P3H1):c.1408C>T (p.Gln470Ter)
|
rs757634052
|
|
NM_022356.4(P3H1):c.1411C>A (p.Arg471=)
|
|
|
NM_022356.4(P3H1):c.1411C>G (p.Arg471Gly)
|
rs147230023
|
|
NM_022356.4(P3H1):c.1412G>A (p.Arg471Gln)
|
rs377645905
|
|
NM_022356.4(P3H1):c.1417G>A (p.Val473Met)
|
|
|
NM_022356.4(P3H1):c.1426G>A (p.Gly476Ser)
|
rs761570342
|
|
NM_022356.4(P3H1):c.1434C>A (p.Ile478=)
|
rs144981408
|
|
NM_022356.4(P3H1):c.1443C>T (p.His481=)
|
|
|
NM_022356.4(P3H1):c.1444G>A (p.Glu482Lys)
|
|
|
NM_022356.4(P3H1):c.1446G>A (p.Glu482=)
|
rs1211741602
|
|
NM_022356.4(P3H1):c.1448G>A (p.Cys483Tyr)
|
|
|
NM_022356.4(P3H1):c.1455G>A (p.Glu485=)
|
|
|
NM_022356.4(P3H1):c.1456C>T (p.Leu486=)
|
rs1652169932
|
|
NM_022356.4(P3H1):c.1458G>A (p.Leu486=)
|
rs202023497
|
|
NM_022356.4(P3H1):c.1461G>A (p.Gln487=)
|
rs1553141914
|
|
NM_022356.4(P3H1):c.1473+11C>T
|
|
|
NM_022356.4(P3H1):c.1473+12C>T
|
|
|
NM_022356.4(P3H1):c.1473+16T>C
|
|
|
NM_022356.4(P3H1):c.1473+1G>T
|
rs72659354
|
|
NM_022356.4(P3H1):c.1473+3A>G
|
rs1652167519
|
|
NM_022356.4(P3H1):c.1473+4A>G
|
|
|
NM_022356.4(P3H1):c.1473T>C (p.Asn491=)
|
|
|
NM_022356.4(P3H1):c.1474-19T>C
|
|
|
NM_022356.4(P3H1):c.1474-1G>A
|
|
|
NM_022356.4(P3H1):c.1474-4G>A
|
|
|
NM_022356.4(P3H1):c.1474-5T>C
|
|
|
NM_022356.4(P3H1):c.1474-9G>A
|
rs2124109165
|
|
NM_022356.4(P3H1):c.1476G>T (p.Val492=)
|
|
|
NM_022356.4(P3H1):c.147G>A (p.Gly49=)
|
|
|
NM_022356.4(P3H1):c.1484_1485dup (p.Ser496fs)
|
|
|
NM_022356.4(P3H1):c.1497C>G (p.Gly499=)
|
|
|
NM_022356.4(P3H1):c.1499_1502dup (p.Gly502fs)
|
|
|
NM_022356.4(P3H1):c.1500C>T (p.Tyr500=)
|
|
|
NM_022356.4(P3H1):c.1511C>T (p.Thr504Ile)
|
rs2124108863
|
|
NM_022356.4(P3H1):c.1512C>G (p.Thr504=)
|
|
|
NM_022356.4(P3H1):c.1523C>G (p.Thr508Ser)
|
rs759787229
|
|
NM_022356.4(P3H1):c.1524T>G (p.Thr508=)
|
|
|
NM_022356.4(P3H1):c.1525C>A (p.Pro509Thr)
|
rs1652148302
|
|
NM_022356.4(P3H1):c.1526C>A (p.Pro509His)
|
|
|
NM_022356.4(P3H1):c.1529A>C (p.Asn510Thr)
|
rs149894086
|
|
NM_022356.4(P3H1):c.1531G>T (p.Glu511Ter)
|
rs773832238
|
|
NM_022356.4(P3H1):c.1533A>G (p.Glu511=)
|
|
|
NM_022356.4(P3H1):c.1541A>G (p.Tyr514Cys)
|
rs1011790349
|
|
NM_022356.4(P3H1):c.1551T>C (p.Thr517=)
|
|
|
NM_022356.4(P3H1):c.1566C>G (p.Leu522=)
|
rs2124108331
|
|
NM_022356.4(P3H1):c.1569+13C>G
|
|
|
NM_022356.4(P3H1):c.1569+15G>C
|
|
|
NM_022356.4(P3H1):c.1569+17G>A
|
|
|
NM_022356.4(P3H1):c.1569+1G>A
|
rs369651701
|
|
NM_022356.4(P3H1):c.156C>T (p.Pro52=)
|
|
|
NM_022356.4(P3H1):c.1570-17A>G
|
|
|
NM_022356.4(P3H1):c.1570-294T>C
|
rs1451483017
|
|
NM_022356.4(P3H1):c.1570-314_1570-313insCC
|
rs1170151221
|
|
NM_022356.4(P3H1):c.1570-318_1570-317insCA
|
rs1198827630
|
|
NM_022356.4(P3H1):c.1570-320_1570-319insT
|
rs1301230654
|
|
NM_022356.4(P3H1):c.1570-323A>C
|
rs71518462
|
|
NM_022356.4(P3H1):c.1570-324_1570-323insCCC
|
rs1232774164
|
|
NM_022356.4(P3H1):c.1570-327G>A
|
rs1432381757
|
|
NM_022356.4(P3H1):c.1571T>G (p.Leu524Arg)
|
|
|
NM_022356.4(P3H1):c.1578A>G (p.Gln526=)
|
|
|
NM_022356.4(P3H1):c.1593del (p.Leu532fs)
|
|
|
NM_022356.4(P3H1):c.15G>A (p.Ala5=)
|
|
|
NM_022356.4(P3H1):c.1604C>T (p.Ala535Val)
|
rs1651963746
|
|
NM_022356.4(P3H1):c.1608C>T (p.His536=)
|
|
|
NM_022356.4(P3H1):c.1609C>T (p.Leu537=)
|
|
|
NM_022356.4(P3H1):c.1610T>C (p.Leu537Pro)
|
rs2124094046
|
|
NM_022356.4(P3H1):c.1611G>A (p.Leu537=)
|
|
|
NM_022356.4(P3H1):c.1618_1620del (p.Asn540del)
|
rs1557562500
|
|
NM_022356.4(P3H1):c.1621G>A (p.Val541Met)
|
rs369552220
|
|
NM_022356.4(P3H1):c.1621G>C (p.Val541Leu)
|
|
|
NM_022356.4(P3H1):c.1627G>A (p.Glu543Lys)
|
rs1651960578
|
|
NM_022356.4(P3H1):c.1632G>A (p.Lys544=)
|
rs2124093858
|
|
NM_022356.4(P3H1):c.163G>A (p.Val55Ile)
|
rs2124175927
|
|
NM_022356.4(P3H1):c.1656C>A (p.Tyr552Ter)
|
rs72659355
|
|
NM_022356.4(P3H1):c.1658del (p.Phe553fs)
|
|
|
NM_022356.4(P3H1):c.1661G>T (p.Arg554Leu)
|
rs376337637
|
|
NM_022356.4(P3H1):c.1667del (p.Asp556fs)
|
rs2124093521
|
|
NM_022356.4(P3H1):c.166C>T (p.Leu56=)
|
rs746752523
|
|
NM_022356.4(P3H1):c.1670C>A (p.Thr557Lys)
|
|
|
NM_022356.4(P3H1):c.1671G>A (p.Thr557=)
|
|
|
NM_022356.4(P3H1):c.1674C>G (p.Pro558=)
|
|
|
NM_022356.4(P3H1):c.1674C>T (p.Pro558=)
|
|
|
NM_022356.4(P3H1):c.1685C>G (p.Ser562Cys)
|
rs1651954957
|
|
NM_022356.4(P3H1):c.1689C>T (p.Tyr563=)
|
rs2124093257
|
|
NM_022356.4(P3H1):c.168G>C (p.Leu56=)
|
rs2124175891
|
|
NM_022356.4(P3H1):c.16T>C (p.Leu6=)
|
|
|
NM_022356.4(P3H1):c.1701G>A (p.Val567=)
|
|
|
NM_022356.4(P3H1):c.1709C>T (p.Thr570Ile)
|
|
|
NM_022356.4(P3H1):c.1716C>A (p.Ile572=)
|
|
|
NM_022356.4(P3H1):c.171C>T (p.Ser57=)
|
|
|
NM_022356.4(P3H1):c.1720+10A>G
|
|
|
NM_022356.4(P3H1):c.1720+16C>T
|
|
|
NM_022356.4(P3H1):c.1720+17C>T
|
|
|
NM_022356.4(P3H1):c.1720+1G>A
|
|
|
NM_022356.4(P3H1):c.1720+20C>A
|
|
|
NM_022356.4(P3H1):c.1720+261C>T
|
rs113149930
|
|
NM_022356.4(P3H1):c.1720+3G>A
|
|
|
NM_022356.4(P3H1):c.1721-16G>A
|
|
|
NM_022356.4(P3H1):c.1721-18G>A
|
|
|
NM_022356.4(P3H1):c.1721-19T>C
|
|
|
NM_022356.4(P3H1):c.1721-20A>G
|
|
|
NM_022356.4(P3H1):c.1721-20_1721-19del
|
|
|
NM_022356.4(P3H1):c.1721-5C>A
|
rs1430349543
|
|
NM_022356.4(P3H1):c.1721-5C>T
|
|
|
NM_022356.4(P3H1):c.1721-6C>T
|
|
|
NM_022356.4(P3H1):c.1721-9T>C
|
|
|
NM_022356.4(P3H1):c.1722G>C (p.Glu574Asp)
|
rs1651848301
|
|
NM_022356.4(P3H1):c.1725C>A (p.Val575=)
|
|
|
NM_022356.4(P3H1):c.1728G>A (p.Gln576=)
|
|
|
NM_022356.4(P3H1):c.1770C>T (p.Asn590=)
|
|
|
NM_022356.4(P3H1):c.1775T>C (p.Ile592Thr)
|
rs1570455746
|
|
NM_022356.4(P3H1):c.1779G>C (p.Leu593=)
|
|
|
NM_022356.4(P3H1):c.1793T>G (p.Leu598Arg)
|
rs2124082697
|
|
NM_022356.4(P3H1):c.1795G>C (p.Val599Leu)
|
rs140254470
|
|
NM_022356.4(P3H1):c.1795G>T (p.Val599Leu)
|
rs140254470
|
|
NM_022356.4(P3H1):c.1803C>T (p.Val601=)
|
|
|
NM_022356.4(P3H1):c.1818C>G (p.Ala606=)
|
|
|
NM_022356.4(P3H1):c.1821C>T (p.Tyr607=)
|
|
|
NM_022356.4(P3H1):c.1827C>T (p.Phe609=)
|
|
|
NM_022356.4(P3H1):c.1829G>T (p.Arg610Leu)
|
|
|
NM_022356.4(P3H1):c.1836C>T (p.Tyr612=)
|
|
|
NM_022356.4(P3H1):c.1838+11G>A
|
|
|
NM_022356.4(P3H1):c.1838+16G>A
|
|
|
NM_022356.4(P3H1):c.1838+17T>C
|
rs1651838250
|
|
NM_022356.4(P3H1):c.1838+17T>G
|
|
|
NM_022356.4(P3H1):c.1838+18G>A
|
|
|
NM_022356.4(P3H1):c.1838+19C>G
|
|
|
NM_022356.4(P3H1):c.1838+66C>A
|
rs59442926
|
|
NM_022356.4(P3H1):c.1839-11G>T
|
|
|
NM_022356.4(P3H1):c.1839-18T>C
|
|
|
NM_022356.4(P3H1):c.1839-19A>C
|
|
|
NM_022356.4(P3H1):c.1839-2A>C
|
rs755665899
|
|
NM_022356.4(P3H1):c.1839-5C>G
|
|
|
NM_022356.4(P3H1):c.1839-9C>T
|
|
|
NM_022356.4(P3H1):c.1840G>A (p.Ala614Thr)
|
rs868224632
|
|
NM_022356.4(P3H1):c.1840G>T (p.Ala614Ser)
|
rs868224632
|
|
NM_022356.4(P3H1):c.1842C>T (p.Ala614=)
|
|
|
NM_022356.4(P3H1):c.1852del (p.Tyr617_Leu618insTer)
|
rs2124079876
|
|
NM_022356.4(P3H1):c.1856del (p.Asn619fs)
|
rs1570454914
|
|
NM_022356.4(P3H1):c.1866C>A (p.Phe622Leu)
|
|
|
NM_022356.4(P3H1):c.1866C>T (p.Phe622=)
|
|
|
NM_022356.4(P3H1):c.186G>A (p.Leu62=)
|
|
|
NM_022356.4(P3H1):c.1872C>T (p.Gly624=)
|
|
|
NM_022356.4(P3H1):c.1873G>A (p.Gly625Arg)
|
|
|
NM_022356.4(P3H1):c.1881_1882del (p.Phe627fs)
|
|
|
NM_022356.4(P3H1):c.1890T>C (p.Thr630=)
|
rs1570454832
|
|
NM_022356.4(P3H1):c.1894C>T (p.Leu632=)
|
|
|
NM_022356.4(P3H1):c.189C>T (p.Arg63=)
|
|
|
NM_022356.4(P3H1):c.1911G>T (p.Val637=)
|
|
|
NM_022356.4(P3H1):c.1914+10C>T
|
|
|
NM_022356.4(P3H1):c.1914+13T>C
|
|
|
NM_022356.4(P3H1):c.1914+15G>A
|
|
|
NM_022356.4(P3H1):c.1914+1G>A
|
|
|
NM_022356.4(P3H1):c.1914+2T>C
|
|
|
NM_022356.4(P3H1):c.1914+5G>C
|
rs1570454763
|
|
NM_022356.4(P3H1):c.1914+9T>C
|
|
|
NM_022356.4(P3H1):c.1914G>A (p.Thr638=)
|
rs765091931
|
|
NM_022356.4(P3H1):c.1915-13C>T
|
|
|
NM_022356.4(P3H1):c.1915-17C>T
|
|
|
NM_022356.4(P3H1):c.1915-17_1915-16del
|
|
|
NM_022356.4(P3H1):c.1915-19C>T
|
|
|
NM_022356.4(P3H1):c.1915-1G>A
|
rs2124077667
|
|
NM_022356.4(P3H1):c.1915-21dup
|
|
|
NM_022356.4(P3H1):c.1915-9C>T
|
rs1402209381
|
|
NM_022356.4(P3H1):c.1915G>T (p.Ala639Ser)
|
rs750377534
|
|
NM_022356.4(P3H1):c.1916C>T (p.Ala639Val)
|
|
|
NM_022356.4(P3H1):c.1918dup (p.Glu640fs)
|
|
|
NM_022356.4(P3H1):c.1923G>C (p.Val641=)
|
|
|
NM_022356.4(P3H1):c.1931A>C (p.Gln644Pro)
|
rs2124077511
|
|
NM_022356.4(P3H1):c.1945G>C (p.Val649Leu)
|
rs775492271
|
|
NM_022356.4(P3H1):c.1956T>C (p.Ser652=)
|
|
|
NM_022356.4(P3H1):c.195G>A (p.Arg65=)
|
|
|
NM_022356.4(P3H1):c.1972C>A (p.Pro658Thr)
|
rs1570453990
|
|
NM_022356.4(P3H1):c.1977T>C (p.His659=)
|
|
|
NM_022356.4(P3H1):c.1980A>G (p.Gly660=)
|
|
|
NM_022356.4(P3H1):c.1980dup (p.Val661fs)
|
rs1570453963
|
|
NM_022356.4(P3H1):c.1981_1984del (p.Val661fs)
|
rs2124076966
|
|
NM_022356.4(P3H1):c.1988C>G (p.Ala663Gly)
|
rs1651782504
|
|
NM_022356.4(P3H1):c.1996A>G (p.Arg666Gly)
|
rs1477470732
|
|
NM_022356.4(P3H1):c.1998G>A (p.Arg666=)
|
|
|
NM_022356.4(P3H1):c.1998G>C (p.Arg666Ser)
|
|
|
NM_022356.4(P3H1):c.1_13del (p.Met1fs)
|
rs2124177151
|
|
NM_022356.4(P3H1):c.2001G>C (p.Gly667=)
|
rs2124076813
|
|
NM_022356.4(P3H1):c.2014dup (p.Ile672fs)
|
|
|
NM_022356.4(P3H1):c.2016C>T (p.Ile672=)
|
|
|
NM_022356.4(P3H1):c.2017G>A (p.Ala673Thr)
|
rs192750565
|
|
NM_022356.4(P3H1):c.2017G>T (p.Ala673Ser)
|
|
|
NM_022356.4(P3H1):c.2019C>A (p.Ala673=)
|
rs1651779110
|
|
NM_022356.4(P3H1):c.2019C>T (p.Ala673=)
|
|
|
NM_022356.4(P3H1):c.2022G>A (p.Leu674=)
|
|
|
NM_022356.4(P3H1):c.2024G>A (p.Trp675Ter)
|
|
|
NM_022356.4(P3H1):c.2024G>T (p.Trp675Leu)
|
rs1226770904
|
|
NM_022356.4(P3H1):c.2028C>T (p.Phe676=)
|
|
|
NM_022356.4(P3H1):c.2029dup (p.Thr677fs)
|
|
|
NM_022356.4(P3H1):c.2041C>T (p.Arg681Ter)
|
rs72659356
|
|
NM_022356.4(P3H1):c.2051_2054del (p.Glu684fs)
|
rs2124076122
|
|
NM_022356.4(P3H1):c.2054G>T (p.Arg685Leu)
|
|
|
NM_022356.4(P3H1):c.2055+10G>C
|
|
|
NM_022356.4(P3H1):c.2055+11C>T
|
|
|
NM_022356.4(P3H1):c.2055+13C>A
|
rs76628300
|
|
NM_022356.4(P3H1):c.2055+13C>G
|
rs76628300
|
|
NM_022356.4(P3H1):c.2055+13C>T
|
rs76628300
|
|
NM_022356.4(P3H1):c.2055+13_2055+31del
|
|
|
NM_022356.4(P3H1):c.2055+14G>A
|
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|
NM_022356.4(P3H1):c.2055+14G>C
|
|
|
NM_022356.4(P3H1):c.2055+15A>T
|
|
|
NM_022356.4(P3H1):c.2055+1G>A
|
rs2124076040
|
|
NM_022356.4(P3H1):c.2055+41G>A
|
rs751605347
|
|
NM_022356.4(P3H1):c.2055+86A>G
|
|
|
NM_022356.4(P3H1):c.2056-15G>A
|
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|
NM_022356.4(P3H1):c.2056-173C>T
|
|
|
NM_022356.4(P3H1):c.2056-5T>A
|
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|
NM_022356.4(P3H1):c.2056-8C>T
|
|
|
NM_022356.4(P3H1):c.2061G>A (p.Arg687=)
|
|
|
NM_022356.4(P3H1):c.2073T>A (p.Asp691Glu)
|
rs764716982
|
|
NM_022356.4(P3H1):c.2076C>G (p.Asp692Glu)
|
rs1383357893
|
|
NM_022356.4(P3H1):c.2091C>T (p.Leu697=)
|
rs1360993770
|
|
NM_022356.4(P3H1):c.2099del (p.Pro700fs)
|
|
|
NM_022356.4(P3H1):c.2101_2102insT (p.Glu701fs)
|
rs778110583
|
|
NM_022356.4(P3H1):c.2108T>C (p.Met703Thr)
|
rs915416583
|
|
NM_022356.4(P3H1):c.2124G>C (p.Glu708Asp)
|
|
|
NM_022356.4(P3H1):c.2130C>T (p.Pro710=)
|
|
|
NM_022356.4(P3H1):c.2131C>T (p.Leu711=)
|
|
|
NM_022356.4(P3H1):c.2131dup (p.Leu711fs)
|
rs1570452407
|
|
NM_022356.4(P3H1):c.2135A>T (p.Asp712Val)
|
|
|
NM_022356.4(P3H1):c.2143C>T (p.Gln715Ter)
|
rs2124072579
|
|
NM_022356.4(P3H1):c.2146G>C (p.Gly716Arg)
|
rs1295977850
|
|
NM_022356.4(P3H1):c.2148= (p.Gly716=)
|
rs4660662
|
|
NM_022356.4(P3H1):c.2148C>T (p.Gly716=)
|
rs4660662
|
|
NM_022356.4(P3H1):c.2154C>G (p.Pro718=)
|
|
|
NM_022356.4(P3H1):c.2154del (p.Glu719fs)
|
|
|
NM_022356.4(P3H1):c.2154dup (p.Glu719fs)
|
rs752671524
|
|
NM_022356.4(P3H1):c.2164C>T (p.Gln722Ter)
|
|
|
NM_022356.4(P3H1):c.2169G>A (p.Glu723=)
|
|
|
NM_022356.4(P3H1):c.2174_2177del (p.Leu725fs)
|
rs1570452214
|
|
NM_022356.4(P3H1):c.2176_2177del (p.Ser726fs)
|
|
|
NM_022356.4(P3H1):c.2181C>T (p.Gly727=)
|
rs2124072049
|
|
NM_022356.4(P3H1):c.2193_2194dup (p.Pro732fs)
|
rs2124071974
|
|
NM_022356.4(P3H1):c.2206C>T (p.Leu736=)
|
|
|
NM_022356.4(P3H1):c.2208A>C (p.Leu736=)
|
|
|
NM_022356.4(P3H1):c.2208A>G (p.Leu736=)
|
|
|
NM_022356.4(P3H1):c.2209T>C (p.Ter737Arg)
|
|
|
NM_022356.4(P3H1):c.24G>A (p.Leu8=)
|
|
|
NM_022356.4(P3H1):c.306C>G (p.Ala102=)
|
|
|
NM_022356.4(P3H1):c.308C>T (p.Ala103Val)
|
|
|
NM_022356.4(P3H1):c.309C>T (p.Ala103=)
|
|
|
NM_022356.4(P3H1):c.310del (p.Leu104fs)
|
rs1653018691
|
|
NM_022356.4(P3H1):c.319C>T (p.Leu107=)
|
|
|
NM_022356.4(P3H1):c.32C>T (p.Thr11Ile)
|
rs1570487789
|
|
NM_022356.4(P3H1):c.331G>C (p.Gly111Arg)
|
rs1557580485
|
|
NM_022356.4(P3H1):c.332G>A (p.Gly111Glu)
|
rs763732280
|
|
NM_022356.4(P3H1):c.334G>A (p.Gly112Ser)
|
|
|
NM_022356.4(P3H1):c.336C>G (p.Gly112=)
|
|
|
NM_022356.4(P3H1):c.336C>T (p.Gly112=)
|
|
|
NM_022356.4(P3H1):c.337C>G (p.Leu113Val)
|
rs965203707
|
|
NM_022356.4(P3H1):c.342G>A (p.Leu114=)
|
|
|
NM_022356.4(P3H1):c.343C>T (p.Arg115Cys)
|
rs1653015841
|
|
NM_022356.4(P3H1):c.354C>G (p.Ala118=)
|
rs1214218371
|
|
NM_022356.4(P3H1):c.360G>A (p.Leu120=)
|
rs2124174573
|
|
NM_022356.4(P3H1):c.369C>T (p.Cys123=)
|
|
|
NM_022356.4(P3H1):c.377del (p.Pro126fs)
|
rs2124174456
|
|
NM_022356.4(P3H1):c.378G>C (p.Pro126=)
|
|
|
NM_022356.4(P3H1):c.384C>T (p.Ala128=)
|
|
|
NM_022356.4(P3H1):c.392C>T (p.Ser131Leu)
|
|
|
NM_022356.4(P3H1):c.393G>A (p.Ser131=)
|
rs982525184
|
|
NM_022356.4(P3H1):c.395T>C (p.Leu132Pro)
|
rs951159895
|
|
NM_022356.4(P3H1):c.399C>A (p.Ser133Arg)
|
rs1557580282
|
|
NM_022356.4(P3H1):c.399C>T (p.Ser133=)
|
|
|
NM_022356.4(P3H1):c.411G>A (p.Glu137=)
|
|
|
NM_022356.4(P3H1):c.417del (p.Glu139fs)
|
|
|
NM_022356.4(P3H1):c.41C>G (p.Ala14Gly)
|
|
|
NM_022356.4(P3H1):c.420C>G (p.Phe140Leu)
|
rs1027100537
|
|
NM_022356.4(P3H1):c.438C>A (p.Tyr146Ter)
|
|
|
NM_022356.4(P3H1):c.448C>T (p.Gln150Ter)
|
|
|
NM_022356.4(P3H1):c.45C>G (p.Val15=)
|
|
|
NM_022356.4(P3H1):c.465+10T>G
|
|
|
NM_022356.4(P3H1):c.465+17A>C
|
|
|
NM_022356.4(P3H1):c.465+20C>T
|
|
|
NM_022356.4(P3H1):c.465+8C>A
|
|
|
NM_022356.4(P3H1):c.465+9C>T
|
|
|
NM_022356.4(P3H1):c.466-15A>G
|
|
|
NM_022356.4(P3H1):c.466A>G (p.Ile156Val)
|
rs751518628
|
|
NM_022356.4(P3H1):c.474G>A (p.Lys158=)
|
|
|
NM_022356.4(P3H1):c.483A>G (p.Lys161=)
|
|
|
NM_022356.4(P3H1):c.495A>C (p.Ala165=)
|
|
|
NM_022356.4(P3H1):c.501C>T (p.His167=)
|
|
|
NM_022356.4(P3H1):c.504C>T (p.Thr168=)
|
|
|
NM_022356.4(P3H1):c.510C>T (p.Phe170=)
|
rs1028946631
|
|
NM_022356.4(P3H1):c.516C>A (p.Gly172=)
|
|
|
NM_022356.4(P3H1):c.51C>T (p.Ala17=)
|
|
|
NM_022356.4(P3H1):c.527A>T (p.His176Leu)
|
|
|
NM_022356.4(P3H1):c.530T>C (p.Met177Thr)
|
|
|
NM_022356.4(P3H1):c.541C>T (p.Gln181Ter)
|
rs1570479611
|
|
NM_022356.4(P3H1):c.555T>C (p.Tyr185=)
|
|
|
NM_022356.4(P3H1):c.558C>T (p.Tyr186=)
|
|
|
NM_022356.4(P3H1):c.561A>G (p.Gln187=)
|
|
|
NM_022356.4(P3H1):c.570_571del (p.Gly191fs)
|
rs1553143741
|
|
NM_022356.4(P3H1):c.572del (p.Gly191fs)
|
|
|
NM_022356.4(P3H1):c.573A>C (p.Gly191=)
|
|
|
NM_022356.4(P3H1):c.57C>T (p.Ala19=)
|
|
|
NM_022356.4(P3H1):c.586G>A (p.Asp196Asn)
|
|
|
NM_022356.4(P3H1):c.589T>C (p.Phe197Leu)
|
|
|
NM_022356.4(P3H1):c.612C>T (p.Pro204=)
|
|
|
NM_022356.4(P3H1):c.617T>C (p.Met206Thr)
|
|
|
NM_022356.4(P3H1):c.618+10del
|
rs760593141
|
|
NM_022356.4(P3H1):c.618+10dup
|
|
|
NM_022356.4(P3H1):c.618+12T>C
|
rs1570479338
|
|
NM_022356.4(P3H1):c.618+12T>G
|
|
|
NM_022356.4(P3H1):c.618+18C>T
|
|
|
NM_022356.4(P3H1):c.618+19C>T
|
|
|
NM_022356.4(P3H1):c.618+9_618+10del
|
|
|
NM_022356.4(P3H1):c.618+9_618+10dup
|
rs760593141
|
|
NM_022356.4(P3H1):c.619-15C>T
|
rs2124143402
|
|
NM_022356.4(P3H1):c.619-15_619-14del
|
|
|
NM_022356.4(P3H1):c.619-16T>A
|
|
|
NM_022356.4(P3H1):c.619-16T>C
|
|
|
NM_022356.4(P3H1):c.619-17C>A
|
|
|
NM_022356.4(P3H1):c.619-19T>C
|
|
|
NM_022356.4(P3H1):c.619-5A>C
|
rs1057523341
|
|
NM_022356.4(P3H1):c.628C>T (p.Arg210Ter)
|
rs137853950
|
|
NM_022356.4(P3H1):c.62A>G (p.Gln21Arg)
|
|
|
NM_022356.4(P3H1):c.630A>G (p.Arg210=)
|
rs1570474459
|
|
NM_022356.4(P3H1):c.639G>A (p.Val213=)
|
|
|
NM_022356.4(P3H1):c.640C>T (p.Arg214Ter)
|
|
|
NM_022356.4(P3H1):c.641_643del (p.Arg214del)
|
rs2124143063
|
|
NM_022356.4(P3H1):c.643C>T (p.Leu215Phe)
|
rs1652579090
|
|
NM_022356.4(P3H1):c.646_650del (p.Tyr216fs)
|
rs1553143142
|
|
NM_022356.4(P3H1):c.64G>A (p.Ala22Thr)
|
|
|
NM_022356.4(P3H1):c.652G>T (p.Glu218Ter)
|
rs2124142972
|
|
NM_022356.4(P3H1):c.655del (p.Glu219fs)
|
|
|
NM_022356.4(P3H1):c.66C>T (p.Ala22=)
|
|
|
NM_022356.4(P3H1):c.674T>C (p.Val225Ala)
|
rs1557573602
|
|
NM_022356.4(P3H1):c.678C>G (p.Pro226=)
|
|
|
NM_022356.4(P3H1):c.678C>T (p.Pro226=)
|
|
|
NM_022356.4(P3H1):c.682C>T (p.Leu228=)
|
|
|
NM_022356.4(P3H1):c.684A>G (p.Leu228=)
|
|
|
NM_022356.4(P3H1):c.684A>T (p.Leu228=)
|
|
|
NM_022356.4(P3H1):c.690G>A (p.Ala230=)
|
|
|
NM_022356.4(P3H1):c.690G>C (p.Ala230=)
|
rs376714509
|
|
NM_022356.4(P3H1):c.691G>A (p.Ala231Thr)
|
rs2124142756
|
|
NM_022356.4(P3H1):c.693G>T (p.Ala231=)
|
|
|
NM_022356.4(P3H1):c.694C>T (p.Leu232=)
|
|
|
NM_022356.4(P3H1):c.696G>A (p.Leu232=)
|
|
|
NM_022356.4(P3H1):c.696G>T (p.Leu232=)
|
|
|
NM_022356.4(P3H1):c.699A>G (p.Gln233=)
|
|
|
NM_022356.4(P3H1):c.69G>A (p.Glu23=)
|
rs1237398609
|
|
NM_022356.4(P3H1):c.69G>C (p.Glu23Asp)
|
rs1237398609
|
|
NM_022356.4(P3H1):c.708T>C (p.Phe236=)
|
|
|
NM_022356.4(P3H1):c.711G>T (p.Val237=)
|
|
|
NM_022356.4(P3H1):c.728G>C (p.Arg243Pro)
|
|
|
NM_022356.4(P3H1):c.72C>T (p.Val24=)
|
rs2124176716
|
|
NM_022356.4(P3H1):c.730G>A (p.Ala244Thr)
|
|
|
NM_022356.4(P3H1):c.738C>T (p.Cys246=)
|
|
|
NM_022356.4(P3H1):c.739G>T (p.Glu247Ter)
|
|
|
NM_022356.4(P3H1):c.741del (p.Tyr250fs)
|
|
|
NM_022356.4(P3H1):c.747del (p.Tyr250fs)
|
rs72659348
|
|
NM_022356.4(P3H1):c.751_765dup (p.Asp251_Tyr255dup)
|
rs1652568948
|
|
NM_022356.4(P3H1):c.753C>T (p.Asp251=)
|
|
|
NM_022356.4(P3H1):c.765C>T (p.Tyr255=)
|
|
|
NM_022356.4(P3H1):c.780C>T (p.Tyr260=)
|
|
|
NM_022356.4(P3H1):c.781A>G (p.Asn261Asp)
|
|
|
NM_022356.4(P3H1):c.786T>C (p.Ala262=)
|
|
|
NM_022356.4(P3H1):c.791del (p.Leu264fs)
|
|
|
NM_022356.4(P3H1):c.792C>G (p.Leu264=)
|
|
|
NM_022356.4(P3H1):c.792C>T (p.Leu264=)
|
|
|
NM_022356.4(P3H1):c.808+10G>A
|
|
|
NM_022356.4(P3H1):c.808+10G>T
|
|
|
NM_022356.4(P3H1):c.808+11T>C
|
|
|
NM_022356.4(P3H1):c.808+14A>G
|
|
|
NM_022356.4(P3H1):c.808+4C>T
|
|
|
NM_022356.4(P3H1):c.808+5G>A
|
rs368972030
|
|
NM_022356.4(P3H1):c.808+5G>T
|
|
|
NM_022356.4(P3H1):c.808+6T>C
|
|
|
NM_022356.4(P3H1):c.808+7_808+8delinsAT
|
rs2124141850
|
|
NM_022356.4(P3H1):c.808+9A>T
|
rs1553143084
|
|
NM_022356.4(P3H1):c.809-10T>C
|
|
|
NM_022356.4(P3H1):c.809-11A>G
|
|
|
NM_022356.4(P3H1):c.809-12G>A
|
rs1652554096
|
|
NM_022356.4(P3H1):c.809-18C>T
|
|
|
NM_022356.4(P3H1):c.809-1G>A
|
|
|
NM_022356.4(P3H1):c.809-8C>T
|
|
|
NM_022356.4(P3H1):c.815A>T (p.Tyr272Phe)
|
rs1652552999
|
|
NM_022356.4(P3H1):c.825C>G (p.Val275=)
|
|
|
NM_022356.4(P3H1):c.825C>T (p.Val275=)
|
|
|
NM_022356.4(P3H1):c.831C>T (p.Asn277=)
|
|
|
NM_022356.4(P3H1):c.837G>A (p.Lys279=)
|
|
|
NM_022356.4(P3H1):c.838C>T (p.Gln280Ter)
|
rs1652551021
|
|
NM_022356.4(P3H1):c.849C>T (p.Val283=)
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NM_022356.4(P3H1):c.851C>T (p.Thr284Met)
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NM_022356.4(P3H1):c.862T>A (p.Ser288Thr)
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NM_022356.4(P3H1):c.866del (p.His289fs)
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NM_022356.4(P3H1):c.881A>C (p.Lys294Thr)
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NM_022356.4(P3H1):c.882G>A (p.Lys294=)
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rs1570473600
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NM_022356.4(P3H1):c.895T>C (p.Phe299Leu)
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NM_022356.4(P3H1):c.898del (p.Leu300fs)
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NM_022356.4(P3H1):c.900C>G (p.Leu300=)
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rs780210200
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NM_022356.4(P3H1):c.900C>T (p.Leu300=)
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NM_022356.4(P3H1):c.905C>T (p.Ser302Leu)
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rs772625904
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NM_022356.4(P3H1):c.916del (p.Tyr306fs)
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rs2124140276
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NM_022356.4(P3H1):c.921G>A (p.Leu307=)
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NM_022356.4(P3H1):c.922C>T (p.Gln308Ter)
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NM_022356.4(P3H1):c.927del (p.Phe309fs)
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NM_022356.4(P3H1):c.930C>T (p.Ala310=)
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NM_022356.4(P3H1):c.933C>G (p.Tyr311Ter)
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rs72659350
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NM_022356.4(P3H1):c.936T>C (p.Tyr312=)
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NM_022356.4(P3H1):c.939_940del (p.Ile314fs)
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NM_022356.4(P3H1):c.940+10A>G
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NM_022356.4(P3H1):c.940+15C>G
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NM_022356.4(P3H1):c.940+19C>G
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NM_022356.4(P3H1):c.940+20C>G
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NM_022356.4(P3H1):c.940+8C>T
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NM_022356.4(P3H1):c.941-10C>T
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NM_022356.4(P3H1):c.941-2A>T
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NM_022356.4(P3H1):c.941-3C>T
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NM_022356.4(P3H1):c.950A>T (p.Tyr317Phe)
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NM_022356.4(P3H1):c.951T>A (p.Tyr317Ter)
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NM_022356.4(P3H1):c.955C>T (p.Gln319Ter)
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NM_022356.4(P3H1):c.957G>C (p.Gln319His)
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rs2124135719
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NM_022356.4(P3H1):c.95_99delinsA (p.Met32fs)
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NM_022356.4(P3H1):c.961G>A (p.Val321Ile)
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rs866278783
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NM_022356.4(P3H1):c.963T>C (p.Val321=)
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NM_022356.4(P3H1):c.971C>T (p.Ala324Val)
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NM_022356.4(P3H1):c.987C>T (p.Leu329=)
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NM_022356.4(P3H1):c.988T>G (p.Phe330Val)
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