NM_001195263.2(PDZD7):c.2006-313T>G
|
rs807021
|
0.83795
|
NM_001195263.2(PDZD7):c.2319T>C (p.Arg773=)
|
rs807022
|
0.81877
|
NM_001195263.2(PDZD7):c.2564A>C (p.Asn855Thr)
|
rs807023
|
0.81454
|
NM_001195263.2(PDZD7):c.1749+188A>G
|
rs701837
|
0.66021
|
NM_001195263.2(PDZD7):c.928+63C>A
|
rs7075685
|
0.64301
|
NM_001195263.2(PDZD7):c.367+7A>G
|
rs6584410
|
0.64290
|
NM_001195263.2(PDZD7):c.1522+395A>G
|
rs10786615
|
0.62464
|
NM_001195263.2(PDZD7):c.1522+88G>C
|
rs11190793
|
0.62414
|
NM_001195263.2(PDZD7):c.-165-311A>G
|
rs4919512
|
0.51326
|
NM_001195263.2(PDZD7):c.1749+43del
|
rs34125357
|
0.40205
|
NM_001195263.2(PDZD7):c.2617+319T>C
|
rs12784542
|
0.39835
|
NM_001195263.2(PDZD7):c.1522+260_1522+265del
|
rs148417050
|
0.35507
|
NM_001195263.2(PDZD7):c.928+110C>T
|
rs7075659
|
0.31040
|
NM_001195263.2(PDZD7):c.868-203T>G
|
rs1998249
|
0.30780
|
NM_001195263.2(PDZD7):c.1523-214G>C
|
rs7090429
|
0.29677
|
NM_001195263.2(PDZD7):c.1934-55C>T
|
rs807020
|
0.28374
|
NM_001195263.2(PDZD7):c.227-130A>G
|
rs11190797
|
0.22293
|
NM_001195263.2(PDZD7):c.542+48C>G
|
rs3740496
|
0.20587
|
NM_001195263.2(PDZD7):c.2368A>G (p.Lys790Glu)
|
rs111287837
|
0.07629
|
NM_001195263.2(PDZD7):c.1574-148C>T
|
rs10883570
|
0.07555
|
NM_001195263.2(PDZD7):c.543-167T>G
|
rs12265408
|
0.07539
|
NM_001195263.2(PDZD7):c.1750-196T>C
|
rs11595628
|
0.07100
|
NM_001195263.2(PDZD7):c.1750-241C>T
|
rs11591425
|
0.06836
|
NM_001195263.2(PDZD7):c.2049G>A (p.Pro683=)
|
rs34693310
|
0.06258
|
NM_001195263.2(PDZD7):c.3092G>A (p.Arg1031His)
|
rs72838683
|
0.03743
|
NM_001195263.2(PDZD7):c.2005+244A>G
|
rs77802680
|
0.03712
|
NM_001195263.2(PDZD7):c.-86A>G
|
rs117794010
|
0.03300
|
NM_001195263.2(PDZD7):c.2618-290A>C
|
rs12780745
|
0.03296
|
NM_001195263.2(PDZD7):c.2132A>G (p.His711Arg)
|
rs34616847
|
0.03016
|
NM_001195263.2(PDZD7):c.2157C>T (p.Asp719=)
|
rs77081173
|
0.01489
|
NM_001195263.2(PDZD7):c.936C>T (p.Asn312=)
|
rs35038258
|
0.01480
|
NM_001195263.2(PDZD7):c.719+52G>T
|
rs73349171
|
0.00974
|
NM_001195263.2(PDZD7):c.367+51del
|
rs376572985
|
0.00972
|
NM_001195263.2(PDZD7):c.1933+46G>C
|
rs142872752
|
0.00956
|
NM_001195263.2(PDZD7):c.929-281G>A
|
rs148431602
|
0.00940
|
NM_001195263.2(PDZD7):c.159G>C (p.Gly53=)
|
rs78072468
|
0.00899
|
NM_001195263.2(PDZD7):c.1011C>T (p.Tyr337=)
|
rs34705415
|
0.00775
|
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu)
|
rs143414291
|
0.00754
|
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu)
|
rs112571971
|
0.00706
|
NM_001195263.2(PDZD7):c.1750-110C>G
|
rs115310716
|
0.00697
|
NM_001195263.2(PDZD7):c.1008C>T (p.Pro336=)
|
rs144469613
|
0.00650
|
NM_001195263.2(PDZD7):c.1522+547G>A
|
rs111916601
|
0.00433
|
NM_001195263.2(PDZD7):c.1447G>A (p.Asp483Asn)
|
rs76941691
|
0.00426
|
NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu)
|
rs118098246
|
0.00348
|
NM_001195263.2(PDZD7):c.168C>G (p.Arg56=)
|
rs143731734
|
0.00251
|
NM_001195263.2(PDZD7):c.368-20A>G
|
rs180764355
|
0.00241
|
NM_001195263.2(PDZD7):c.1905G>A (p.Glu635=)
|
rs546907305
|
0.00204
|
NM_001195263.2(PDZD7):c.1934-24T>C
|
rs184675540
|
0.00189
|
NM_001195263.2(PDZD7):c.2719-9C>A
|
rs184247824
|
0.00189
|
NM_001195263.2(PDZD7):c.2943T>C (p.Asp981=)
|
rs569520095
|
0.00181
|
NM_001195263.2(PDZD7):c.2411C>T (p.Ala804Val)
|
rs397516635
|
0.00180
|
NM_001195263.2(PDZD7):c.971G>A (p.Ser324Asn)
|
rs200592310
|
0.00176
|
NM_001195263.2(PDZD7):c.2538G>C (p.Gly846=)
|
rs111750275
|
0.00173
|
NM_001195263.2(PDZD7):c.370C>T (p.Arg124Trp)
|
rs114917863
|
0.00137
|
NM_001195263.2(PDZD7):c.2250G>T (p.Trp750Cys)
|
rs759725715
|
0.00136
|
NM_001195263.2(PDZD7):c.2617+25G>A
|
rs147777665
|
0.00134
|
NM_001195263.2(PDZD7):c.1136G>A (p.Arg379Gln)
|
rs199608117
|
0.00131
|
NM_001195263.2(PDZD7):c.324C>T (p.Gly108=)
|
rs147133210
|
0.00115
|
NM_001195263.2(PDZD7):c.2357G>A (p.Arg786Gln)
|
rs113570783
|
0.00098
|
NM_001195263.2(PDZD7):c.*44G>A
|
rs150768091
|
0.00097
|
NM_001195263.2(PDZD7):c.786C>T (p.Asn262=)
|
rs148746572
|
0.00084
|
NM_001195263.2(PDZD7):c.2319_2328del (p.Ser774fs)
|
rs753591187
|
0.00072
|
NM_001195263.2(PDZD7):c.2330_2331del (p.Arg777fs)
|
rs766167046
|
0.00072
|
NM_001195263.2(PDZD7):c.156C>T (p.Asn52=)
|
rs150917752
|
0.00061
|
NM_001195263.2(PDZD7):c.244G>A (p.Asp82Asn)
|
rs139145521
|
0.00058
|
NM_001195263.2(PDZD7):c.1579G>A (p.Glu527Lys)
|
rs773904973
|
0.00039
|
NM_001195263.2(PDZD7):c.1942C>T (p.Pro648Ser)
|
rs201727136
|
0.00039
|
NM_001195263.2(PDZD7):c.1411T>C (p.Phe471Leu)
|
rs141181035
|
0.00038
|
NM_001195263.2(PDZD7):c.1929G>A (p.Arg643=)
|
rs560900265
|
0.00037
|
NM_001195263.2(PDZD7):c.2819G>A (p.Arg940Gln)
|
rs556216049
|
0.00036
|
NM_001195263.2(PDZD7):c.2680T>C (p.Phe894Leu)
|
rs571203897
|
0.00035
|
NM_001195263.2(PDZD7):c.2372C>T (p.Ser791Phe)
|
rs753244651
|
0.00034
|
NM_001195263.2(PDZD7):c.1267G>A (p.Ala423Thr)
|
rs201268590
|
0.00031
|
NM_001195263.2(PDZD7):c.2396C>G (p.Pro799Arg)
|
rs765565547
|
0.00031
|
NM_001195263.2(PDZD7):c.1629G>A (p.Gln543=)
|
rs192668758
|
0.00029
|
NM_001195263.2(PDZD7):c.2932C>A (p.Gln978Lys)
|
rs149904839
|
0.00029
|
NM_001195263.2(PDZD7):c.1079G>A (p.Gly360Asp)
|
rs571399433
|
0.00027
|
NM_001195263.2(PDZD7):c.1171A>G (p.Ile391Val)
|
rs767734855
|
0.00027
|
NM_001195263.2(PDZD7):c.1996C>T (p.Pro666Ser)
|
rs922807416
|
0.00026
|
NM_001195263.2(PDZD7):c.652G>A (p.Asp218Asn)
|
rs142301501
|
0.00026
|
NM_001195263.2(PDZD7):c.720-17C>T
|
rs199819658
|
0.00024
|
NM_001195263.2(PDZD7):c.2253G>A (p.Leu751=)
|
rs776885998
|
0.00023
|
NM_001195263.2(PDZD7):c.2329C>T (p.Arg777Cys)
|
rs531733507
|
0.00022
|
NM_001195263.2(PDZD7):c.802G>A (p.Asp268Asn)
|
rs202154862
|
0.00022
|
NM_001195263.2(PDZD7):c.53G>A (p.Ser18Asn)
|
rs555633587
|
0.00021
|
NM_001195263.2(PDZD7):c.720-16G>A
|
rs201165944
|
0.00017
|
NM_001195263.2(PDZD7):c.2040C>T (p.Asn680=)
|
rs1020066551
|
0.00016
|
NM_001195263.2(PDZD7):c.2331T>C (p.Arg777=)
|
rs564150396
|
0.00016
|
NM_001195263.2(PDZD7):c.2777G>A (p.Arg926His)
|
rs1052665117
|
0.00016
|
NM_001195263.2(PDZD7):c.2863C>T (p.Arg955Trp)
|
rs567692834
|
0.00016
|
NM_001195263.2(PDZD7):c.2903G>A (p.Gly968Asp)
|
rs749824364
|
0.00015
|
NM_001195263.2(PDZD7):c.3078C>T (p.Pro1026=)
|
rs534463809
|
0.00015
|
NM_001195263.2(PDZD7):c.1653T>G (p.Val551=)
|
rs773008252
|
0.00014
|
NM_001195263.2(PDZD7):c.1964A>G (p.Gln655Arg)
|
rs999884614
|
0.00013
|
NM_001195263.2(PDZD7):c.1672C>T (p.Arg558Trp)
|
rs549755324
|
0.00011
|
NM_001195263.2(PDZD7):c.2727C>T (p.Phe909=)
|
rs769518056
|
0.00011
|
NM_001195263.2(PDZD7):c.831G>A (p.Val277=)
|
rs139585498
|
0.00011
|
NM_001195263.2(PDZD7):c.845C>T (p.Thr282Met)
|
rs147215491
|
0.00011
|
NM_001195263.2(PDZD7):c.874G>A (p.Gly292Ser)
|
rs765091855
|
0.00011
|
NM_001195263.2(PDZD7):c.929-12T>C
|
rs529887153
|
0.00011
|
NM_001195263.2(PDZD7):c.1362C>T (p.Ser454=)
|
rs139448043
|
0.00009
|
NM_001195263.2(PDZD7):c.1539G>A (p.Pro513=)
|
rs1032265481
|
0.00009
|
NM_001195263.2(PDZD7):c.1638T>C (p.Asn546=)
|
rs760557332
|
0.00009
|
NM_001195263.2(PDZD7):c.2574C>T (p.Gly858=)
|
rs769474600
|
0.00009
|
NM_001195263.2(PDZD7):c.539C>T (p.Thr180Met)
|
rs372004783
|
0.00009
|
NM_001195263.2(PDZD7):c.91C>A (p.Leu31Ile)
|
rs370710418
|
0.00009
|
NM_001195263.2(PDZD7):c.958C>T (p.Pro320Ser)
|
rs760413315
|
0.00009
|
NM_001195263.2(PDZD7):c.2237T>A (p.Leu746Gln)
|
rs775819383
|
0.00008
|
NM_001195263.2(PDZD7):c.336C>T (p.Phe112=)
|
rs370045020
|
0.00008
|
NM_001195263.2(PDZD7):c.1673G>A (p.Arg558Gln)
|
rs901875344
|
0.00007
|
NM_001195263.2(PDZD7):c.1842-14T>C
|
rs1045461761
|
0.00007
|
NM_001195263.2(PDZD7):c.1940C>T (p.Pro647Leu)
|
rs1013083731
|
0.00007
|
NM_001195263.2(PDZD7):c.2013C>T (p.Arg671=)
|
rs978580047
|
0.00007
|
NM_001195263.2(PDZD7):c.2231G>A (p.Arg744Gln)
|
rs547610251
|
0.00007
|
NM_001195263.2(PDZD7):c.226+8C>A
|
rs773262625
|
0.00007
|
NM_001195263.2(PDZD7):c.2336G>A (p.Arg779His)
|
rs564438989
|
0.00007
|
NM_001195263.2(PDZD7):c.3079G>A (p.Ala1027Thr)
|
rs770512804
|
0.00007
|
NM_001195263.2(PDZD7):c.1325-16T>A
|
rs887446494
|
0.00006
|
NM_001195263.2(PDZD7):c.1399C>T (p.Leu467=)
|
rs771643153
|
0.00006
|
NM_001195263.2(PDZD7):c.146G>A (p.Arg49Gln)
|
rs118036804
|
0.00006
|
NM_001195263.2(PDZD7):c.1485C>A (p.Ser495Arg)
|
rs766182369
|
0.00006
|
NM_001195263.2(PDZD7):c.1747C>T (p.Arg583Trp)
|
rs972518774
|
0.00006
|
NM_001195263.2(PDZD7):c.1748G>A (p.Arg583Gln)
|
rs539301115
|
0.00006
|
NM_001195263.2(PDZD7):c.1749+19C>T
|
rs867025983
|
0.00006
|
NM_001195263.2(PDZD7):c.18A>G (p.Ala6=)
|
rs368303229
|
0.00006
|
NM_001195263.2(PDZD7):c.2745C>T (p.Asp915=)
|
rs892434373
|
0.00006
|
NM_001195263.2(PDZD7):c.2772C>T (p.His924=)
|
rs745512974
|
0.00006
|
NM_001195263.2(PDZD7):c.1445G>A (p.Arg482Gln)
|
rs757870735
|
0.00005
|
NM_001195263.2(PDZD7):c.1670G>A (p.Arg557Gln)
|
rs866781150
|
0.00005
|
NM_001195263.2(PDZD7):c.2381G>A (p.Arg794Lys)
|
rs961558622
|
0.00005
|
NM_001195263.2(PDZD7):c.2611T>A (p.Ser871Thr)
|
rs780723619
|
0.00005
|
NM_001195263.2(PDZD7):c.2629T>G (p.Ser877Ala)
|
rs937643817
|
0.00005
|
NM_001195263.2(PDZD7):c.306C>T (p.Arg102=)
|
rs141305163
|
0.00005
|
NM_001195263.2(PDZD7):c.382T>C (p.Cys128Arg)
|
rs746178505
|
0.00005
|
NM_001195263.2(PDZD7):c.448G>A (p.Val150Ile)
|
rs770149702
|
0.00005
|
NM_001195263.2(PDZD7):c.493C>T (p.Arg165Cys)
|
rs756993862
|
0.00005
|
NM_001195263.2(PDZD7):c.562C>A (p.Arg188Ser)
|
rs368583838
|
0.00005
|
NM_001195263.2(PDZD7):c.630C>T (p.Ile210=)
|
rs146801433
|
0.00005
|
NM_001195263.2(PDZD7):c.693G>A (p.Glu231=)
|
rs776593991
|
0.00005
|
NM_001195263.2(PDZD7):c.741C>T (p.Ala247=)
|
rs113256591
|
0.00005
|
NM_001195263.2(PDZD7):c.878G>A (p.Arg293Gln)
|
rs368026275
|
0.00005
|
NM_001195263.2(PDZD7):c.1353G>A (p.Lys451=)
|
rs757615613
|
0.00004
|
NM_001195263.2(PDZD7):c.1531G>A (p.Val511Met)
|
rs141289018
|
0.00004
|
NM_001195263.2(PDZD7):c.1570C>T (p.Arg524Cys)
|
rs1020577070
|
0.00004
|
NM_001195263.2(PDZD7):c.1751A>G (p.Tyr584Cys)
|
rs573697929
|
0.00004
|
NM_001195263.2(PDZD7):c.1842-12G>A
|
rs894172029
|
0.00004
|
NM_001195263.2(PDZD7):c.1875C>T (p.Phe625=)
|
rs779555799
|
0.00004
|
NM_001195263.2(PDZD7):c.1916C>G (p.Ala639Gly)
|
rs528139723
|
0.00004
|
NM_001195263.2(PDZD7):c.1976C>T (p.Pro659Leu)
|
rs1042000604
|
0.00004
|
NM_001195263.2(PDZD7):c.206T>C (p.Leu69Pro)
|
rs765515973
|
0.00004
|
NM_001195263.2(PDZD7):c.2123G>A (p.Arg708His)
|
rs372148542
|
0.00004
|
NM_001195263.2(PDZD7):c.2273G>A (p.Arg758Gln)
|
rs886340534
|
0.00004
|
NM_001195263.2(PDZD7):c.2397G>T (p.Pro799=)
|
rs759844154
|
0.00004
|
NM_001195263.2(PDZD7):c.2598C>T (p.Ser866=)
|
rs745575428
|
0.00004
|
NM_001195263.2(PDZD7):c.2600A>G (p.Lys867Arg)
|
rs972998837
|
0.00004
|
NM_001195263.2(PDZD7):c.2686G>A (p.Gly896Arg)
|
rs890687418
|
0.00004
|
NM_001195263.2(PDZD7):c.2694C>T (p.Ala898=)
|
rs555108174
|
0.00004
|
NM_001195263.2(PDZD7):c.321T>C (p.His107=)
|
rs374389339
|
0.00004
|
NM_001195263.2(PDZD7):c.481A>T (p.Met161Leu)
|
rs372777810
|
0.00004
|
NM_001195263.2(PDZD7):c.801C>T (p.Asp267=)
|
rs145548319
|
0.00004
|
NM_001195263.2(PDZD7):c.877C>T (p.Arg293Trp)
|
rs753608704
|
0.00004
|
NM_001195263.2(PDZD7):c.1149G>C (p.Trp383Cys)
|
rs754408663
|
0.00003
|
NM_001195263.2(PDZD7):c.1543C>T (p.Gln515Ter)
|
rs979094623
|
0.00003
|
NM_001195263.2(PDZD7):c.1588C>T (p.Arg530Trp)
|
rs961077588
|
0.00003
|
NM_001195263.2(PDZD7):c.1832A>G (p.Gln611Arg)
|
rs1006592882
|
0.00003
|
NM_001195263.2(PDZD7):c.1885G>A (p.Val629Met)
|
rs745881849
|
0.00003
|
NM_001195263.2(PDZD7):c.1915G>A (p.Ala639Thr)
|
rs1048648727
|
0.00003
|
NM_001195263.2(PDZD7):c.2011C>A (p.Arg671Ser)
|
rs925832623
|
0.00003
|
NM_001195263.2(PDZD7):c.227-20C>T
|
rs934983198
|
0.00003
|
NM_001195263.2(PDZD7):c.2383C>T (p.Arg795Cys)
|
rs1399188523
|
0.00003
|
NM_001195263.2(PDZD7):c.2410G>A (p.Ala804Thr)
|
rs766555446
|
0.00003
|
NM_001195263.2(PDZD7):c.2515C>T (p.Pro839Ser)
|
rs1027527004
|
0.00003
|
NM_001195263.2(PDZD7):c.257C>T (p.Ser86Leu)
|
rs761666704
|
0.00003
|
NM_001195263.2(PDZD7):c.2639T>C (p.Ile880Thr)
|
rs202192219
|
0.00003
|
NM_001195263.2(PDZD7):c.2652G>A (p.Val884=)
|
rs754174021
|
0.00003
|
NM_001195263.2(PDZD7):c.2675A>C (p.Lys892Thr)
|
rs914064629
|
0.00003
|
NM_001195263.2(PDZD7):c.2746G>A (p.Gly916Arg)
|
rs1052443941
|
0.00003
|
NM_001195263.2(PDZD7):c.292G>A (p.Gly98Ser)
|
rs150772666
|
0.00003
|
NM_001195263.2(PDZD7):c.509C>T (p.Pro170Leu)
|
rs750975516
|
0.00003
|
NM_001195263.2(PDZD7):c.543-18C>T
|
rs766834247
|
0.00003
|
NM_001195263.2(PDZD7):c.622C>T (p.Arg208Trp)
|
rs775644699
|
0.00003
|
NM_001195263.2(PDZD7):c.867+11C>T
|
rs372896584
|
0.00003
|
NM_001195263.2(PDZD7):c.1069G>A (p.Gly357Ser)
|
rs751055341
|
0.00002
|
NM_001195263.2(PDZD7):c.1093C>T (p.Arg365Trp)
|
rs749298324
|
0.00002
|
NM_001195263.2(PDZD7):c.1100del (p.Asp367fs)
|
rs760919233
|
0.00002
|
NM_001195263.2(PDZD7):c.1293C>T (p.Ile431=)
|
rs372731105
|
0.00002
|
NM_001195263.2(PDZD7):c.1324+20C>T
|
rs571875053
|
0.00002
|
NM_001195263.2(PDZD7):c.1329G>A (p.Glu443=)
|
rs1307303457
|
0.00002
|
NM_001195263.2(PDZD7):c.1359G>C (p.Gly453=)
|
rs751994539
|
0.00002
|
NM_001195263.2(PDZD7):c.1379C>T (p.Ala460Val)
|
rs776473503
|
0.00002
|
NM_001195263.2(PDZD7):c.1449C>A (p.Asp483Glu)
|
rs778296630
|
0.00002
|
NM_001195263.2(PDZD7):c.1484G>A (p.Ser495Asn)
|
rs755060842
|
0.00002
|
NM_001195263.2(PDZD7):c.1538C>T (p.Pro513Leu)
|
rs572462059
|
0.00002
|
NM_001195263.2(PDZD7):c.1736G>A (p.Arg579His)
|
rs757223602
|
0.00002
|
NM_001195263.2(PDZD7):c.1842-13C>T
|
rs948487802
|
0.00002
|
NM_001195263.2(PDZD7):c.1982G>A (p.Arg661His)
|
rs1394885704
|
0.00002
|
NM_001195263.2(PDZD7):c.2017G>C (p.Gly673Arg)
|
rs1411305662
|
0.00002
|
NM_001195263.2(PDZD7):c.2068G>A (p.Glu690Lys)
|
rs758298619
|
0.00002
|
NM_001195263.2(PDZD7):c.2073G>C (p.Leu691=)
|
rs1484005793
|
0.00002
|
NM_001195263.2(PDZD7):c.2219C>T (p.Pro740Leu)
|
rs895187941
|
0.00002
|
NM_001195263.2(PDZD7):c.226+9G>A
|
rs771745846
|
0.00002
|
NM_001195263.2(PDZD7):c.2335C>T (p.Arg779Cys)
|
rs1408396864
|
0.00002
|
NM_001195263.2(PDZD7):c.2568C>A (p.Pro856=)
|
rs1308552992
|
0.00002
|
NM_001195263.2(PDZD7):c.262C>T (p.Arg88Trp)
|
rs774063330
|
0.00002
|
NM_001195263.2(PDZD7):c.2780C>T (p.Ala927Val)
|
rs944897041
|
0.00002
|
NM_001195263.2(PDZD7):c.2795G>A (p.Arg932His)
|
rs1178415802
|
0.00002
|
NM_001195263.2(PDZD7):c.2797C>T (p.Arg933Trp)
|
rs535407987
|
0.00002
|
NM_001195263.2(PDZD7):c.2851G>A (p.Gly951Arg)
|
rs1013643993
|
0.00002
|
NM_001195263.2(PDZD7):c.2999C>T (p.Pro1000Leu)
|
rs751680131
|
0.00002
|
NM_001195263.2(PDZD7):c.368-4G>A
|
rs759300268
|
0.00002
|
NM_001195263.2(PDZD7):c.471C>T (p.Ser157=)
|
rs368888540
|
0.00002
|
NM_001195263.2(PDZD7):c.543-15C>T
|
rs767988413
|
0.00002
|
NM_001195263.2(PDZD7):c.582C>T (p.Cys194=)
|
rs137967850
|
0.00002
|
NM_001195263.2(PDZD7):c.59G>C (p.Gly20Ala)
|
rs757934531
|
0.00002
|
NM_001195263.2(PDZD7):c.649T>C (p.Ser217Pro)
|
rs778376822
|
0.00002
|
NM_001195263.2(PDZD7):c.651C>T (p.Ser217=)
|
rs754527844
|
0.00002
|
NM_001195263.2(PDZD7):c.679C>T (p.Arg227Cys)
|
rs879714657
|
0.00002
|
NM_001195263.2(PDZD7):c.867+18G>C
|
rs546191689
|
0.00002
|
NM_001195263.2(PDZD7):c.929-13C>T
|
rs1052950462
|
0.00002
|
NM_001195263.2(PDZD7):c.989C>G (p.Ser330Trp)
|
rs776107619
|
0.00002
|
NM_001195263.2(PDZD7):c.-5C>A
|
rs369112912
|
0.00001
|
NM_001195263.2(PDZD7):c.1013G>T (p.Ser338Ile)
|
rs1425787315
|
0.00001
|
NM_001195263.2(PDZD7):c.1022C>T (p.Ser341Phe)
|
rs1386117902
|
0.00001
|
NM_001195263.2(PDZD7):c.1031C>T (p.Ser344Leu)
|
rs772257588
|
0.00001
|
NM_001195263.2(PDZD7):c.1090G>C (p.Gly364Arg)
|
rs1211478781
|
0.00001
|
NM_001195263.2(PDZD7):c.1094G>A (p.Arg365Gln)
|
rs779994503
|
0.00001
|
NM_001195263.2(PDZD7):c.109T>C (p.Ser37Pro)
|
rs1210259607
|
0.00001
|
NM_001195263.2(PDZD7):c.1102A>G (p.Thr368Ala)
|
rs1284008057
|
0.00001
|
NM_001195263.2(PDZD7):c.1113del (p.Thr372fs)
|
rs1280689930
|
0.00001
|
NM_001195263.2(PDZD7):c.1147dup (p.Trp383fs)
|
rs1482655499
|
0.00001
|
NM_001195263.2(PDZD7):c.1153A>G (p.Ser385Gly)
|
rs761148643
|
0.00001
|
NM_001195263.2(PDZD7):c.1206C>G (p.Pro402=)
|
rs984801335
|
0.00001
|
NM_001195263.2(PDZD7):c.1213G>C (p.Gly405Arg)
|
rs769641288
|
0.00001
|
NM_001195263.2(PDZD7):c.1216C>T (p.Arg406Cys)
|
rs1309845047
|
0.00001
|
NM_001195263.2(PDZD7):c.1255G>T (p.Ala419Ser)
|
rs1253428959
|
0.00001
|
NM_001195263.2(PDZD7):c.134G>A (p.Arg45Lys)
|
rs201276268
|
0.00001
|
NM_001195263.2(PDZD7):c.1355C>T (p.Ser452Leu)
|
rs1852825091
|
0.00001
|
NM_001195263.2(PDZD7):c.1363C>T (p.Pro455Ser)
|
rs147352555
|
0.00001
|
NM_001195263.2(PDZD7):c.1398G>A (p.Thr466=)
|
rs1274699785
|
0.00001
|
NM_001195263.2(PDZD7):c.1408C>T (p.Leu470Phe)
|
rs1462342137
|
0.00001
|
NM_001195263.2(PDZD7):c.1450G>A (p.Gly484Arg)
|
rs186148212
|
0.00001
|
NM_001195263.2(PDZD7):c.1505G>T (p.Arg502Leu)
|
rs768381051
|
0.00001
|
NM_001195263.2(PDZD7):c.1516G>C (p.Glu506Gln)
|
rs775071299
|
0.00001
|
NM_001195263.2(PDZD7):c.1522+19A>G
|
rs368721665
|
0.00001
|
NM_001195263.2(PDZD7):c.1526G>A (p.Gly509Glu)
|
rs916653126
|
0.00001
|
NM_001195263.2(PDZD7):c.1529G>A (p.Gly510Asp)
|
rs564604670
|
0.00001
|
NM_001195263.2(PDZD7):c.1530C>T (p.Gly510=)
|
rs751402496
|
0.00001
|
NM_001195263.2(PDZD7):c.1571G>A (p.Arg524His)
|
rs1178980761
|
0.00001
|
NM_001195263.2(PDZD7):c.1574-20del
|
rs1487059465
|
0.00001
|
NM_001195263.2(PDZD7):c.1575C>T (p.Asp525=)
|
rs761231526
|
0.00001
|
NM_001195263.2(PDZD7):c.157G>A (p.Gly53Arg)
|
rs778664043
|
0.00001
|
NM_001195263.2(PDZD7):c.1589G>A (p.Arg530Gln)
|
rs574961159
|
0.00001
|
NM_001195263.2(PDZD7):c.1591G>A (p.Ala531Thr)
|
rs1852594005
|
0.00001
|
NM_001195263.2(PDZD7):c.1641G>C (p.Val547=)
|
rs1374943001
|
0.00001
|
NM_001195263.2(PDZD7):c.1652T>G (p.Val551Gly)
|
rs1564630680
|
0.00001
|
NM_001195263.2(PDZD7):c.1655dup (p.Ala553fs)
|
rs1378470761
|
0.00001
|
NM_001195263.2(PDZD7):c.1664A>G (p.Glu555Gly)
|
rs1042478798
|
0.00001
|
NM_001195263.2(PDZD7):c.1669C>T (p.Arg557Trp)
|
rs780079499
|
0.00001
|
NM_001195263.2(PDZD7):c.1693G>T (p.Ala565Ser)
|
rs1483933007
|
0.00001
|
NM_001195263.2(PDZD7):c.1696C>T (p.Gln566Ter)
|
rs1321213780
|
0.00001
|
NM_001195263.2(PDZD7):c.1722G>A (p.Val574=)
|
rs919717592
|
0.00001
|
NM_001195263.2(PDZD7):c.1750-4G>T
|
rs1178852804
|
0.00001
|
NM_001195263.2(PDZD7):c.176G>A (p.Arg59Gln)
|
rs547919358
|
0.00001
|
NM_001195263.2(PDZD7):c.1799T>A (p.Ile600Asn)
|
rs1384928452
|
0.00001
|
NM_001195263.2(PDZD7):c.1859C>T (p.Thr620Ile)
|
rs1356922296
|
0.00001
|
NM_001195263.2(PDZD7):c.185C>T (p.Ser62Leu)
|
rs1173857385
|
0.00001
|
NM_001195263.2(PDZD7):c.1870C>T (p.Arg624Cys)
|
rs1335781251
|
0.00001
|
NM_001195263.2(PDZD7):c.1936C>T (p.Arg646Trp)
|
rs1192819099
|
0.00001
|
NM_001195263.2(PDZD7):c.1949T>C (p.Leu650Ser)
|
rs1170576262
|
0.00001
|
NM_001195263.2(PDZD7):c.1960C>T (p.Arg654Trp)
|
rs573956926
|
0.00001
|
NM_001195263.2(PDZD7):c.198C>T (p.Arg66=)
|
rs764353177
|
0.00001
|
NM_001195263.2(PDZD7):c.2012G>A (p.Arg671His)
|
rs746897547
|
0.00001
|
NM_001195263.2(PDZD7):c.2019C>T (p.Gly673=)
|
rs1301327039
|
0.00001
|
NM_001195263.2(PDZD7):c.2020T>C (p.Phe674Leu)
|
rs1467723397
|
0.00001
|
NM_001195263.2(PDZD7):c.2024A>G (p.Tyr675Cys)
|
rs886371702
|
0.00001
|
NM_001195263.2(PDZD7):c.2047C>T (p.Pro683Ser)
|
rs1048857649
|
0.00001
|
NM_001195263.2(PDZD7):c.2077G>A (p.Glu693Lys)
|
rs534497706
|
0.00001
|
NM_001195263.2(PDZD7):c.2107A>G (p.Ser703Gly)
|
rs1490498480
|
0.00001
|
NM_001195263.2(PDZD7):c.2111C>T (p.Ala704Val)
|
rs1046474216
|
0.00001
|
NM_001195263.2(PDZD7):c.2122C>T (p.Arg708Cys)
|
rs1380221952
|
0.00001
|
NM_001195263.2(PDZD7):c.2127C>T (p.His709=)
|
rs1445111982
|
0.00001
|
NM_001195263.2(PDZD7):c.2147C>T (p.Pro716Leu)
|
rs1256494174
|
0.00001
|
NM_001195263.2(PDZD7):c.2148del (p.Leu717fs)
|
rs1177622557
|
0.00001
|
NM_001195263.2(PDZD7):c.2180C>G (p.Pro727Arg)
|
rs551067965
|
0.00001
|
NM_001195263.2(PDZD7):c.2181C>A (p.Pro727=)
|
rs1308804055
|
0.00001
|
NM_001195263.2(PDZD7):c.2186G>A (p.Arg729Gln)
|
rs1332415010
|
0.00001
|
NM_001195263.2(PDZD7):c.2230C>A (p.Arg744=)
|
rs565952913
|
0.00001
|
NM_001195263.2(PDZD7):c.2258C>G (p.Thr753Arg)
|
rs1175879167
|
0.00001
|
NM_001195263.2(PDZD7):c.226+5G>A
|
rs1006318051
|
0.00001
|
NM_001195263.2(PDZD7):c.226G>C (p.Ala76Pro)
|
rs368813546
|
0.00001
|
NM_001195263.2(PDZD7):c.2272C>T (p.Arg758Ter)
|
rs771079550
|
0.00001
|
NM_001195263.2(PDZD7):c.2299C>T (p.Arg767Trp)
|
rs562444438
|
0.00001
|
NM_001195263.2(PDZD7):c.2306G>A (p.Arg769Gln)
|
rs1234647923
|
0.00001
|
NM_001195263.2(PDZD7):c.2313G>A (p.Gln771=)
|
rs1276836073
|
0.00001
|
NM_001195263.2(PDZD7):c.2330G>A (p.Arg777His)
|
rs939062446
|
0.00001
|
NM_001195263.2(PDZD7):c.2341C>T (p.Arg781Cys)
|
rs1263925793
|
0.00001
|
NM_001195263.2(PDZD7):c.2348G>A (p.Arg783His)
|
rs1064796284
|
0.00001
|
NM_001195263.2(PDZD7):c.2356C>T (p.Arg786Trp)
|
rs1363537692
|
0.00001
|
NM_001195263.2(PDZD7):c.2360G>A (p.Gly787Asp)
|
rs1319411537
|
0.00001
|
NM_001195263.2(PDZD7):c.2408C>T (p.Pro803Leu)
|
rs895208304
|
0.00001
|
NM_001195263.2(PDZD7):c.2438A>C (p.His813Pro)
|
rs794727142
|
0.00001
|
NM_001195263.2(PDZD7):c.2444C>T (p.Pro815Leu)
|
rs773325280
|
0.00001
|
NM_001195263.2(PDZD7):c.2446C>T (p.Arg816Trp)
|
rs1398407965
|
0.00001
|
NM_001195263.2(PDZD7):c.2455A>G (p.Arg819Gly)
|
rs1328996490
|
0.00001
|
NM_001195263.2(PDZD7):c.2481T>G (p.Asp827Glu)
|
rs950755620
|
0.00001
|
NM_001195263.2(PDZD7):c.254A>G (p.His85Arg)
|
rs1222143587
|
0.00001
|
NM_001195263.2(PDZD7):c.255T>C (p.His85=)
|
rs374743954
|
0.00001
|
NM_001195263.2(PDZD7):c.2594T>G (p.Leu865Arg)
|
rs1187930402
|
0.00001
|
NM_001195263.2(PDZD7):c.2617+16A>C
|
rs1221765592
|
0.00001
|
NM_001195263.2(PDZD7):c.2618-20G>A
|
rs1056118118
|
0.00001
|
NM_001195263.2(PDZD7):c.2644T>C (p.Ser882Pro)
|
rs1852315949
|
0.00001
|
NM_001195263.2(PDZD7):c.2695G>A (p.Ala899Thr)
|
rs911911177
|
0.00001
|
NM_001195263.2(PDZD7):c.2698T>C (p.Phe900Leu)
|
rs1381855360
|
0.00001
|
NM_001195263.2(PDZD7):c.2716C>T (p.Gln906Ter)
|
rs1488207344
|
0.00001
|
NM_001195263.2(PDZD7):c.2719-3T>G
|
rs1265150513
|
0.00001
|
NM_001195263.2(PDZD7):c.272A>G (p.Lys91Arg)
|
rs768504914
|
0.00001
|
NM_001195263.2(PDZD7):c.2747G>C (p.Gly916Ala)
|
rs553455294
|
0.00001
|
NM_001195263.2(PDZD7):c.2781A>G (p.Ala927=)
|
rs1852298934
|
0.00001
|
NM_001195263.2(PDZD7):c.2786A>G (p.Asp929Gly)
|
rs1465344876
|
0.00001
|
NM_001195263.2(PDZD7):c.2794C>T (p.Arg932Cys)
|
rs1050568581
|
0.00001
|
NM_001195263.2(PDZD7):c.2798G>A (p.Arg933Gln)
|
rs574483811
|
0.00001
|
NM_001195263.2(PDZD7):c.2817C>T (p.Ala939=)
|
rs940669870
|
0.00001
|
NM_001195263.2(PDZD7):c.2847C>A (p.Val949=)
|
rs905399722
|
0.00001
|
NM_001195263.2(PDZD7):c.2879A>C (p.Asp960Ala)
|
rs892568577
|
0.00001
|
NM_001195263.2(PDZD7):c.29A>G (p.Asp10Gly)
|
rs779930368
|
0.00001
|
NM_001195263.2(PDZD7):c.300C>T (p.Ser100=)
|
rs989994284
|
0.00001
|
NM_001195263.2(PDZD7):c.301G>A (p.Val101Met)
|
rs754095314
|
0.00001
|
NM_001195263.2(PDZD7):c.305G>A (p.Arg102His)
|
rs760825921
|
0.00001
|
NM_001195263.2(PDZD7):c.3091C>T (p.Arg1031Cys)
|
rs772704936
|
0.00001
|
NM_001195263.2(PDZD7):c.319C>T (p.His107Tyr)
|
rs768919023
|
0.00001
|
NM_001195263.2(PDZD7):c.337G>A (p.Val113Ile)
|
rs565096078
|
0.00001
|
NM_001195263.2(PDZD7):c.346G>A (p.Val116Met)
|
rs1176044780
|
0.00001
|
NM_001195263.2(PDZD7):c.364G>A (p.Ala122Thr)
|
rs754203607
|
0.00001
|
NM_001195263.2(PDZD7):c.368-8T>C
|
rs752646655
|
0.00001
|
NM_001195263.2(PDZD7):c.371G>A (p.Arg124Gln)
|
rs371205668
|
0.00001
|
NM_001195263.2(PDZD7):c.384C>T (p.Cys128=)
|
rs573879477
|
0.00001
|
NM_001195263.2(PDZD7):c.406G>A (p.Val136Met)
|
rs1164787831
|
0.00001
|
NM_001195263.2(PDZD7):c.414G>A (p.Gly138=)
|
rs1409253317
|
0.00001
|
NM_001195263.2(PDZD7):c.464G>C (p.Ser155Thr)
|
rs1385766075
|
0.00001
|
NM_001195263.2(PDZD7):c.472C>T (p.Arg158Cys)
|
rs1047223437
|
0.00001
|
NM_001195263.2(PDZD7):c.482T>C (p.Met161Thr)
|
rs1473508737
|
0.00001
|
NM_001195263.2(PDZD7):c.491G>A (p.Arg164Gln)
|
rs551318046
|
0.00001
|
NM_001195263.2(PDZD7):c.500G>A (p.Gly167Asp)
|
rs1235822317
|
0.00001
|
NM_001195263.2(PDZD7):c.516C>G (p.Ile172Met)
|
rs1404827189
|
0.00001
|
NM_001195263.2(PDZD7):c.519G>A (p.Lys173=)
|
rs1194699047
|
0.00001
|
NM_001195263.2(PDZD7):c.543-12G>A
|
rs199632071
|
0.00001
|
NM_001195263.2(PDZD7):c.543-3C>T
|
rs768585730
|
0.00001
|
NM_001195263.2(PDZD7):c.548A>T (p.Asp183Val)
|
rs770676126
|
0.00001
|
NM_001195263.2(PDZD7):c.54C>A (p.Ser18Arg)
|
rs1417962390
|
0.00001
|
NM_001195263.2(PDZD7):c.559C>T (p.Arg187Trp)
|
rs559297316
|
0.00001
|
NM_001195263.2(PDZD7):c.563G>A (p.Arg188His)
|
rs781129674
|
0.00001
|
NM_001195263.2(PDZD7):c.581G>A (p.Cys194Tyr)
|
rs1458612807
|
0.00001
|
NM_001195263.2(PDZD7):c.584G>A (p.Gly195Asp)
|
rs1473798675
|
0.00001
|
NM_001195263.2(PDZD7):c.592C>T (p.Pro198Ser)
|
rs756550515
|
0.00001
|
NM_001195263.2(PDZD7):c.597C>T (p.Ser199=)
|
rs377395095
|
0.00001
|
NM_001195263.2(PDZD7):c.60C>T (p.Gly20=)
|
rs968096580
|
0.00001
|
NM_001195263.2(PDZD7):c.626G>A (p.Arg209His)
|
rs1018597313
|
0.00001
|
NM_001195263.2(PDZD7):c.627C>A (p.Arg209=)
|
rs140494396
|
0.00001
|
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg)
|
rs753034799
|
0.00001
|
NM_001195263.2(PDZD7):c.685G>A (p.Gly229Ser)
|
rs765376342
|
0.00001
|
NM_001195263.2(PDZD7):c.704G>C (p.Gly235Ala)
|
rs906585992
|
0.00001
|
NM_001195263.2(PDZD7):c.714G>A (p.Val238=)
|
rs371393755
|
0.00001
|
NM_001195263.2(PDZD7):c.719+7G>A
|
rs1219143859
|
0.00001
|
NM_001195263.2(PDZD7):c.727C>G (p.His243Asp)
|
rs561472174
|
0.00001
|
NM_001195263.2(PDZD7):c.728A>G (p.His243Arg)
|
rs775052781
|
0.00001
|
NM_001195263.2(PDZD7):c.732T>A (p.Gly244=)
|
rs778472334
|
0.00001
|
NM_001195263.2(PDZD7):c.742G>A (p.Glu248Lys)
|
rs779421889
|
0.00001
|
NM_001195263.2(PDZD7):c.744G>A (p.Glu248=)
|
rs1289239764
|
0.00001
|
NM_001195263.2(PDZD7):c.766G>A (p.Asp256Asn)
|
rs1348978737
|
0.00001
|
NM_001195263.2(PDZD7):c.782C>T (p.Ala261Val)
|
rs761747020
|
0.00001
|
NM_001195263.2(PDZD7):c.83G>A (p.Arg28Gln)
|
rs892963481
|
0.00001
|
NM_001195263.2(PDZD7):c.894G>A (p.Lys298=)
|
rs772883835
|
0.00001
|
NM_001195263.2(PDZD7):c.897G>A (p.Glu299=)
|
rs374130858
|
0.00001
|
NM_001195263.2(PDZD7):c.902T>C (p.Val301Ala)
|
rs1299423968
|
0.00001
|
NM_001195263.2(PDZD7):c.909G>A (p.Glu303=)
|
rs763533135
|
0.00001
|
NM_001195263.2(PDZD7):c.928+1G>A
|
rs778565403
|
0.00001
|
NM_001195263.2(PDZD7):c.929-2A>G
|
rs1195820653
|
0.00001
|
NM_001195263.2(PDZD7):c.937G>A (p.Gly313Arg)
|
rs1234735246
|
0.00001
|
NM_001195263.2(PDZD7):c.939G>A (p.Gly313=)
|
rs943214411
|
0.00001
|
NM_001195263.2(PDZD7):c.959C>T (p.Pro320Leu)
|
rs749847307
|
0.00001
|
NC_000010.10:g.(?_102783173)_(102783845_?)del
|
|
|
NM_001195263.2(PDZD7):c.1011C>A (p.Tyr337Ter)
|
|
|
NM_001195263.2(PDZD7):c.1011C>G (p.Tyr337Ter)
|
|
|
NM_001195263.2(PDZD7):c.1012del (p.Ser338fs)
|
rs1564634581
|
|
NM_001195263.2(PDZD7):c.1016C>T (p.Ser339Leu)
|
|
|
NM_001195263.2(PDZD7):c.1018G>A (p.Gly340Ser)
|
|
|
NM_001195263.2(PDZD7):c.1019G>A (p.Gly340Asp)
|
|
|
NM_001195263.2(PDZD7):c.1028C>T (p.Pro343Leu)
|
rs963223923
|
|
NM_001195263.2(PDZD7):c.1032G>T (p.Ser344=)
|
rs748001519
|
|
NM_001195263.2(PDZD7):c.1033G>T (p.Asp345Tyr)
|
|
|
NM_001195263.2(PDZD7):c.1036C>A (p.Arg346Ser)
|
|
|
NM_001195263.2(PDZD7):c.1037G>T (p.Arg346Leu)
|
|
|
NM_001195263.2(PDZD7):c.1040T>G (p.Met347Arg)
|
|
|
NM_001195263.2(PDZD7):c.1047C>T (p.Ile349=)
|
|
|
NM_001195263.2(PDZD7):c.1054G>C (p.Gly352Arg)
|
|
|
NM_001195263.2(PDZD7):c.1056G>A (p.Gly352=)
|
|
|
NM_001195263.2(PDZD7):c.105A>T (p.Ser35=)
|
rs1938016191
|
|
NM_001195263.2(PDZD7):c.1060G>A (p.Glu354Lys)
|
rs1333858817
|
|
NM_001195263.2(PDZD7):c.1065G>T (p.Glu355Asp)
|
rs1852892391
|
|
NM_001195263.2(PDZD7):c.1075C>G (p.Arg359Gly)
|
rs554745483
|
|
NM_001195263.2(PDZD7):c.1076_1078inv (p.Arg359_Gly360delinsProArg)
|
|
|
NM_001195263.2(PDZD7):c.1084G>C (p.Gly362Arg)
|
|
|
NM_001195263.2(PDZD7):c.1088G>A (p.Trp363Ter)
|
rs1002525817
|
|
NM_001195263.2(PDZD7):c.1095G>C (p.Arg365=)
|
|
|
NM_001195263.2(PDZD7):c.1097C>A (p.Ala366Glu)
|
|
|
NM_001195263.2(PDZD7):c.1101C>G (p.Asp367Glu)
|
|
|
NM_001195263.2(PDZD7):c.1106C>T (p.Ala369Val)
|
rs756014531
|
|
NM_001195263.2(PDZD7):c.1115C>A (p.Thr372Lys)
|
rs377765391
|
|
NM_001195263.2(PDZD7):c.1115C>T (p.Thr372Met)
|
rs377765391
|
|
NM_001195263.2(PDZD7):c.1116G>C (p.Thr372=)
|
rs2134058586
|
|
NM_001195263.2(PDZD7):c.1123G>A (p.Asp375Asn)
|
rs893313280
|
|
NM_001195263.2(PDZD7):c.1128G>A (p.Ala376=)
|
|
|
NM_001195263.2(PDZD7):c.1131A>G (p.Gly377=)
|
rs2134058256
|
|
NM_001195263.2(PDZD7):c.1132_1134del (p.Gly378del)
|
rs2134058168
|
|
NM_001195263.2(PDZD7):c.117_121del (p.Thr40fs)
|
|
|
NM_001195263.2(PDZD7):c.1185del (p.Ala396fs)
|
|
|
NM_001195263.2(PDZD7):c.1186G>T (p.Ala396Ser)
|
|
|
NM_001195263.2(PDZD7):c.1191C>T (p.Ile397=)
|
rs1590060069
|
|
NM_001195263.2(PDZD7):c.1198G>A (p.Asp400Asn)
|
rs2134057179
|
|
NM_001195263.2(PDZD7):c.119C>T (p.Thr40Met)
|
rs1160650482
|
|
NM_001195263.2(PDZD7):c.1207del (p.His403fs)
|
rs1554835103
|
|
NM_001195263.2(PDZD7):c.1208A>G (p.His403Arg)
|
rs921239445
|
|
NM_001195263.2(PDZD7):c.1212C>T (p.Pro404=)
|
|
|
NM_001195263.2(PDZD7):c.1215C>T (p.Gly405=)
|
rs2134056799
|
|
NM_001195263.2(PDZD7):c.1220G>A (p.Arg407His)
|
|
|
NM_001195263.2(PDZD7):c.1222del (p.Asp409fs)
|
rs1434666715
|
|
NM_001195263.2(PDZD7):c.1228T>G (p.Ser410Ala)
|
rs2134056518
|
|
NM_001195263.2(PDZD7):c.1236_1239del (p.Glu414fs)
|
|
|
NM_001195263.2(PDZD7):c.1237T>G (p.Ser413Ala)
|
|
|
NM_001195263.2(PDZD7):c.126C>A (p.Tyr42Ter)
|
rs1938012365
|
|
NM_001195263.2(PDZD7):c.1282C>A (p.Arg428=)
|
rs1312074306
|
|
NM_001195263.2(PDZD7):c.1285C>T (p.Pro429Ser)
|
|
|
NM_001195263.2(PDZD7):c.1290C>A (p.Pro430=)
|
rs756607033
|
|
NM_001195263.2(PDZD7):c.1302C>T (p.Ser434=)
|
rs1358462226
|
|
NM_001195263.2(PDZD7):c.1312C>T (p.Leu438=)
|
|
|
NM_001195263.2(PDZD7):c.1314G>A (p.Leu438=)
|
|
|
NM_001195263.2(PDZD7):c.1320G>C (p.Leu440Phe)
|
|
|
NM_001195263.2(PDZD7):c.1322G>C (p.Trp441Ser)
|
rs1264327176
|
|
NM_001195263.2(PDZD7):c.1323G>C (p.Trp441Cys)
|
rs1187432177
|
|
NM_001195263.2(PDZD7):c.1324+10G>A
|
|
|
NM_001195263.2(PDZD7):c.1324+11G>C
|
rs751873690
|
|
NM_001195263.2(PDZD7):c.1324+11del
|
rs767650733
|
|
NM_001195263.2(PDZD7):c.1324+16G>A
|
|
|
NM_001195263.2(PDZD7):c.1325-15C>G
|
|
|
NM_001195263.2(PDZD7):c.1325-3C>T
|
rs1852829459
|
|
NM_001195263.2(PDZD7):c.1325-7T>G
|
rs2134050707
|
|
NM_001195263.2(PDZD7):c.1337del (p.Gln446fs)
|
rs1852828620
|
|
NM_001195263.2(PDZD7):c.1340G>A (p.Arg447Gln)
|
|
|
NM_001195263.2(PDZD7):c.1341G>A (p.Arg447=)
|
|
|
NM_001195263.2(PDZD7):c.1342AAG[1] (p.Lys449del)
|
rs749620519
|
|
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del)
|
rs555444131
|
|
NM_001195263.2(PDZD7):c.1368G>C (p.Gly456=)
|
rs2134049845
|
|
NM_001195263.2(PDZD7):c.136_145del (p.Lys46fs)
|
|
|
NM_001195263.2(PDZD7):c.1372A>G (p.Lys458Glu)
|
|
|
NM_001195263.2(PDZD7):c.1387C>T (p.Arg463Cys)
|
rs766170998
|
|
NM_001195263.2(PDZD7):c.1392C>T (p.Ser464=)
|
rs2134049595
|
|
NM_001195263.2(PDZD7):c.13T>A (p.Phe5Ile)
|
|
|
NM_001195263.2(PDZD7):c.1401G>A (p.Leu467=)
|
rs2134049414
|
|
NM_001195263.2(PDZD7):c.1402A>G (p.Met468Val)
|
rs1392510268
|
|
NM_001195263.2(PDZD7):c.1420_1522+812delinsA
|
|
|
NM_001195263.2(PDZD7):c.1424G>A (p.Gly475Glu)
|
rs578119372
|
|
NM_001195263.2(PDZD7):c.1427G>A (p.Arg476Gln)
|
|
|
NM_001195263.2(PDZD7):c.1432G>A (p.Gly478Arg)
|
rs1852816140
|
|
NM_001195263.2(PDZD7):c.1452_1454dup (p.Arg486dup)
|
rs770637109
|
|
NM_001195263.2(PDZD7):c.1454G>C (p.Arg485Pro)
|
rs1429333599
|
|
NM_001195263.2(PDZD7):c.1456A>C (p.Arg486=)
|
rs2134048391
|
|
NM_001195263.2(PDZD7):c.1462G>A (p.Ala488Thr)
|
|
|
NM_001195263.2(PDZD7):c.1480G>A (p.Gly494Arg)
|
|
|
NM_001195263.2(PDZD7):c.1489G>T (p.Ala497Ser)
|
rs772930835
|
|
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter)
|
rs953422571
|
|
NM_001195263.2(PDZD7):c.1501C>T (p.Pro501Ser)
|
rs1175130040
|
|
NM_001195263.2(PDZD7):c.150G>A (p.Leu50=)
|
rs1247745897
|
|
NM_001195263.2(PDZD7):c.1510G>A (p.Asp504Asn)
|
|
|
NM_001195263.2(PDZD7):c.1515A>G (p.Ile505Met)
|
rs1852803254
|
|
NM_001195263.2(PDZD7):c.1522+186_1522+211del
|
rs1229218697
|
|
NM_001195263.2(PDZD7):c.1522+186_1522+215del
|
rs1370354382
|
|
NM_001195263.2(PDZD7):c.1522+186_1522+219del
|
rs1294487477
|
|
NM_001195263.2(PDZD7):c.1522+186_1522+223del
|
rs1454906725
|
|
NM_001195263.2(PDZD7):c.1522+186_1522+227del
|
rs879558782
|
|
NM_001195263.2(PDZD7):c.1522+187C>A
|
rs191331869
|
|
NM_001195263.2(PDZD7):c.1522+207_1522+211del
|
rs746109316
|
|
NM_001195263.2(PDZD7):c.1522+207_1522+215del
|
rs757879415
|
|
NM_001195263.2(PDZD7):c.1522+207_1522+219del
|
rs1564632504
|
|
NM_001195263.2(PDZD7):c.1522+207_1522+223del
|
rs879632019
|
|
NM_001195263.2(PDZD7):c.1522+207del
|
rs66819144
|
|
NM_001195263.2(PDZD7):c.1522+224dup
|
rs1491214800
|
|
NM_001195263.2(PDZD7):c.1522+228dup
|
rs368025079
|
|
NM_001195263.2(PDZD7):c.1522+232dup
|
rs757151762
|
|
NM_001195263.2(PDZD7):c.1522+260CCTT[2]
|
rs202036244
|
|
NM_001195263.2(PDZD7):c.1522+260CCTT[3]
|
rs202036244
|
|
NM_001195263.2(PDZD7):c.1522+2dup
|
rs2134047337
|
|
NM_001195263.2(PDZD7):c.1522+301dup
|
rs370482213
|
|
NM_001195263.2(PDZD7):c.1522+311_1522+312dup
|
|
|
NM_001195263.2(PDZD7):c.1522+452T>G
|
|
|
NM_001195263.2(PDZD7):c.1522+704del
|
rs61058141
|
|
NM_001195263.2(PDZD7):c.1523-20A>C
|
|
|
NM_001195263.2(PDZD7):c.1525G>C (p.Gly509Arg)
|
rs1590053918
|
|
NM_001195263.2(PDZD7):c.1526G>C (p.Gly509Ala)
|
rs916653126
|
|
NM_001195263.2(PDZD7):c.1527G>A (p.Gly509=)
|
rs2134026759
|
|
NM_001195263.2(PDZD7):c.1529G>T (p.Gly510Val)
|
rs564604670
|
|
NM_001195263.2(PDZD7):c.1529dup (p.Val511fs)
|
rs2134026711
|
|
NM_001195263.2(PDZD7):c.1560G>T (p.Trp520Cys)
|
|
|
NM_001195263.2(PDZD7):c.1570C>A (p.Arg524Ser)
|
|
|
NM_001195263.2(PDZD7):c.1573+12A>G
|
rs2134026223
|
|
NM_001195263.2(PDZD7):c.1573+4A>T
|
rs1852627386
|
|
NM_001195263.2(PDZD7):c.1574-18A>G
|
|
|
NM_001195263.2(PDZD7):c.1574-45_1574-3del
|
rs1852595110
|
|
NM_001195263.2(PDZD7):c.1574-5T>A
|
|
|
NM_001195263.2(PDZD7):c.1576C>T (p.Gln526Ter)
|
rs1554834186
|
|
NM_001195263.2(PDZD7):c.1581G>A (p.Glu527=)
|
rs2134022945
|
|
NM_001195263.2(PDZD7):c.1584G>A (p.Arg528=)
|
|
|
NM_001195263.2(PDZD7):c.1588C>G (p.Arg530Gly)
|
rs961077588
|
|
NM_001195263.2(PDZD7):c.159G>T (p.Gly53=)
|
|
|
NM_001195263.2(PDZD7):c.15C>T (p.Phe5=)
|
|
|
NM_001195263.2(PDZD7):c.1619C>T (p.Pro540Leu)
|
|
|
NM_001195263.2(PDZD7):c.1620C>T (p.Pro540=)
|
|
|
NM_001195263.2(PDZD7):c.1621T>C (p.Ser541Pro)
|
rs1852592444
|
|
NM_001195263.2(PDZD7):c.1648C>T (p.Gln550Ter)
|
rs1554834161
|
|
NM_001195263.2(PDZD7):c.1649A>G (p.Gln550Arg)
|
rs1852590972
|
|
NM_001195263.2(PDZD7):c.1656G>A (p.Gln552=)
|
|
|
NM_001195263.2(PDZD7):c.1657G>T (p.Ala553Ser)
|
rs1852590394
|
|
NM_001195263.2(PDZD7):c.1662G>C (p.Trp554Cys)
|
rs1852590009
|
|
NM_001195263.2(PDZD7):c.166C>A (p.Arg56Ser)
|
|
|
NM_001195263.2(PDZD7):c.166C>T (p.Arg56Cys)
|
|
|
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs)
|
rs587776894
|
|
NM_001195263.2(PDZD7):c.167G>A (p.Arg56His)
|
rs997674484
|
|
NM_001195263.2(PDZD7):c.1684C>T (p.Gln562Ter)
|
|
|
NM_001195263.2(PDZD7):c.1694C>T (p.Ala565Val)
|
|
|
NM_001195263.2(PDZD7):c.1697A>G (p.Gln566Arg)
|
|
|
NM_001195263.2(PDZD7):c.1699A>C (p.Arg567=)
|
|
|
NM_001195263.2(PDZD7):c.169G>A (p.Gly57Arg)
|
|
|
NM_001195263.2(PDZD7):c.1705C>A (p.Leu569Met)
|
rs943957887
|
|
NM_001195263.2(PDZD7):c.1716C>T (p.Asp572=)
|
rs533299957
|
|
NM_001195263.2(PDZD7):c.1735C>T (p.Arg579Cys)
|
|
|
NM_001195263.2(PDZD7):c.1739A>C (p.His580Pro)
|
rs1460604773
|
|
NM_001195263.2(PDZD7):c.1749+10C>G
|
|
|
NM_001195263.2(PDZD7):c.1749+12T>A
|
rs2134021678
|
|
NM_001195263.2(PDZD7):c.1749+144CA[11]
|
rs10579208
|
|
NM_001195263.2(PDZD7):c.1749+144CA[12]
|
rs10579208
|
|
NM_001195263.2(PDZD7):c.1749+16A>G
|
|
|
NM_001195263.2(PDZD7):c.1749+17T>A
|
|
|
NM_001195263.2(PDZD7):c.1749+19C>G
|
rs867025983
|
|
NM_001195263.2(PDZD7):c.1749+2T>G
|
|
|
NM_001195263.2(PDZD7):c.1749+6C>T
|
|
|
NM_001195263.2(PDZD7):c.1749+7C>T
|
|
|
NM_001195263.2(PDZD7):c.1750-16C>T
|
|
|
NM_001195263.2(PDZD7):c.1750-268T>G
|
rs11190790
|
|
NM_001195263.2(PDZD7):c.1750-2A>G
|
|
|
NM_001195263.2(PDZD7):c.1752T>C (p.Tyr584=)
|
rs368563439
|
|
NM_001195263.2(PDZD7):c.1758C>A (p.His586Gln)
|
rs796585261
|
|
NM_001195263.2(PDZD7):c.1758C>T (p.His586=)
|
rs796585261
|
|
NM_001195263.2(PDZD7):c.175C>T (p.Arg59Ter)
|
|
|
NM_001195263.2(PDZD7):c.175_182del (p.Arg59fs)
|
|
|
NM_001195263.2(PDZD7):c.1760A>T (p.Glu587Val)
|
rs2134005900
|
|
NM_001195263.2(PDZD7):c.176G>C (p.Arg59Pro)
|
rs547919358
|
|
NM_001195263.2(PDZD7):c.1773G>A (p.Glu591=)
|
|
|
NM_001195263.2(PDZD7):c.1776C>G (p.Asp592Glu)
|
|
|
NM_001195263.2(PDZD7):c.1777C>A (p.Leu593Met)
|
|
|
NM_001195263.2(PDZD7):c.178G>C (p.Ala60Pro)
|
|
|
NM_001195263.2(PDZD7):c.1800C>A (p.Ile600=)
|
|
|
NM_001195263.2(PDZD7):c.1811C>A (p.Pro604Gln)
|
rs537508786
|
|
NM_001195263.2(PDZD7):c.1811C>T (p.Pro604Leu)
|
rs537508786
|
|
NM_001195263.2(PDZD7):c.1812G>A (p.Pro604=)
|
|
|
NM_001195263.2(PDZD7):c.1812G>T (p.Pro604=)
|
rs1453369439
|
|
NM_001195263.2(PDZD7):c.1813G>A (p.Glu605Lys)
|
rs1852419161
|
|
NM_001195263.2(PDZD7):c.1836C>T (p.Asp612=)
|
|
|
NM_001195263.2(PDZD7):c.1841+19G>C
|
rs759067016
|
|
NM_001195263.2(PDZD7):c.1841+19G>T
|
|
|
NM_001195263.2(PDZD7):c.1841+2T>A
|
|
|
NM_001195263.2(PDZD7):c.1841+7G>A
|
rs2134005328
|
|
NM_001195263.2(PDZD7):c.1841G>C (p.Arg614Thr)
|
rs773503851
|
|
NM_001195263.2(PDZD7):c.1842-5C>G
|
|
|
NM_001195263.2(PDZD7):c.1842G>A (p.Arg614=)
|
|
|
NM_001195263.2(PDZD7):c.1854C>T (p.Ala618=)
|
rs1852409621
|
|
NM_001195263.2(PDZD7):c.1861G>A (p.Asp621Asn)
|
|
|
NM_001195263.2(PDZD7):c.1871G>A (p.Arg624His)
|
rs2134004404
|
|
NM_001195263.2(PDZD7):c.1890G>A (p.Met630Ile)
|
rs2134004302
|
|
NM_001195263.2(PDZD7):c.189_196dup (p.Arg66fs)
|
|
|
NM_001195263.2(PDZD7):c.1907C>T (p.Ala636Val)
|
rs2134004216
|
|
NM_001195263.2(PDZD7):c.190A>C (p.Met64Leu)
|
|
|
NM_001195263.2(PDZD7):c.1914G>A (p.Glu638=)
|
|
|
NM_001195263.2(PDZD7):c.1921A>G (p.Lys641Glu)
|
rs2134004127
|
|
NM_001195263.2(PDZD7):c.1933+10G>C
|
|
|
NM_001195263.2(PDZD7):c.1933+11G>C
|
|
|
NM_001195263.2(PDZD7):c.1933+14G>C
|
rs1852406678
|
|
NM_001195263.2(PDZD7):c.1937G>A (p.Arg646Gln)
|
|
|
NM_001195263.2(PDZD7):c.1958C>A (p.Ala653Asp)
|
|
|
NM_001195263.2(PDZD7):c.196C>T (p.Arg66Cys)
|
rs2134157286
|
|
NM_001195263.2(PDZD7):c.1970C>T (p.Thr657Met)
|
|
|
NM_001195263.2(PDZD7):c.1977C>G (p.Pro659=)
|
rs1378481372
|
|
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu)
|
rs1426679303
|
|
NM_001195263.2(PDZD7):c.1982_1984del (p.Arg661del)
|
|
|
NM_001195263.2(PDZD7):c.1986C>T (p.His662=)
|
|
|
NM_001195263.2(PDZD7):c.1987dup (p.Leu663fs)
|
|
|
NM_001195263.2(PDZD7):c.198C>A (p.Arg66=)
|
rs764353177
|
|
NM_001195263.2(PDZD7):c.1998C>T (p.Pro666=)
|
rs1445921707
|
|
NM_001195263.2(PDZD7):c.199G>A (p.Val67Ile)
|
|
|
NM_001195263.2(PDZD7):c.1A>G (p.Met1Val)
|
rs1162280454
|
|
NM_001195263.2(PDZD7):c.2006-11C>T
|
|
|
NM_001195263.2(PDZD7):c.2006-178_2006-177insAATG
|
rs763493578
|
|
NM_001195263.2(PDZD7):c.2006-179ATAA[4]
|
rs10637176
|
|
NM_001195263.2(PDZD7):c.2006-18C>G
|
|
|
NM_001195263.2(PDZD7):c.2006-1G>A
|
rs1207503394
|
|
NM_001195263.2(PDZD7):c.2006-2A>G
|
rs1852373110
|
|
NM_001195263.2(PDZD7):c.2006-38_2006-37insGAGGTGGTCCAGTCTGG
|
rs71305551
|
|
NM_001195263.2(PDZD7):c.2006-4C>G
|
|
|
NM_001195263.2(PDZD7):c.2012G>T (p.Arg671Leu)
|
|
|
NM_001195263.2(PDZD7):c.2027_2028del (p.Leu676fs)
|
|
|
NM_001195263.2(PDZD7):c.2028G>C (p.Leu676=)
|
|
|
NM_001195263.2(PDZD7):c.2030T>C (p.Leu677Pro)
|
|
|
NM_001195263.2(PDZD7):c.2033C>T (p.Pro678Leu)
|
rs1170141042
|
|
NM_001195263.2(PDZD7):c.2034G>A (p.Pro678=)
|
|
|
NM_001195263.2(PDZD7):c.2048C>T (p.Pro683Leu)
|
|
|
NM_001195263.2(PDZD7):c.204C>T (p.Ile68=)
|
|
|
NM_001195263.2(PDZD7):c.2067G>C (p.Gly689=)
|
|
|
NM_001195263.2(PDZD7):c.2070G>A (p.Glu690=)
|
rs1007164553
|
|
NM_001195263.2(PDZD7):c.2082G>T (p.Arg694=)
|
|
|
NM_001195263.2(PDZD7):c.2082del (p.Leu695fs)
|
|
|
NM_001195263.2(PDZD7):c.2089G>T (p.Ala697Ser)
|
|
|
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs)
|
rs1055318738
|
|
NM_001195263.2(PDZD7):c.2092_2094del (p.Leu698del)
|
rs2134000249
|
|
NM_001195263.2(PDZD7):c.2098G>T (p.Val700Phe)
|
|
|
NM_001195263.2(PDZD7):c.2099T>A (p.Val700Asp)
|
|
|
NM_001195263.2(PDZD7):c.20T>C (p.Val7Ala)
|
|
|
NM_001195263.2(PDZD7):c.2105C>T (p.Pro702Leu)
|
|
|
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)
|
rs397516633
|
|
NM_001195263.2(PDZD7):c.2110G>T (p.Ala704Ser)
|
rs2134000192
|
|
NM_001195263.2(PDZD7):c.2112C>T (p.Ala704=)
|
|
|
NM_001195263.2(PDZD7):c.2132_2146del (p.His711_Pro715del)
|
rs1852368311
|
|
NM_001195263.2(PDZD7):c.2133del (p.His711fs)
|
|
|
NM_001195263.2(PDZD7):c.213C>T (p.Asn71=)
|
rs759861723
|
|
NM_001195263.2(PDZD7):c.2142C>G (p.Ile714Met)
|
rs1367414369
|
|
NM_001195263.2(PDZD7):c.2152C>T (p.Gln718Ter)
|
|
|
NM_001195263.2(PDZD7):c.2158G>A (p.Val720Met)
|
|
|
NM_001195263.2(PDZD7):c.2158G>T (p.Val720Leu)
|
rs765787538
|
|
NM_001195263.2(PDZD7):c.2159T>G (p.Val720Gly)
|
|
|
NM_001195263.2(PDZD7):c.215C>T (p.Ser72Phe)
|
|
|
NM_001195263.2(PDZD7):c.2178C>G (p.Thr726=)
|
|
|
NM_001195263.2(PDZD7):c.2179C>T (p.Pro727Ser)
|
rs990298922
|
|
NM_001195263.2(PDZD7):c.2181C>G (p.Pro727=)
|
|
|
NM_001195263.2(PDZD7):c.2182del (p.Leu728fs)
|
rs1162586274
|
|
NM_001195263.2(PDZD7):c.2185del (p.Arg729fs)
|
rs1590045340
|
|
NM_001195263.2(PDZD7):c.2188A>G (p.Ile730Val)
|
rs2133999808
|
|
NM_001195263.2(PDZD7):c.2192C>T (p.Ala731Val)
|
|
|
NM_001195263.2(PDZD7):c.2194_2203del (p.Cys732fs)
|
|
|
NM_001195263.2(PDZD7):c.2202C>G (p.Pro734=)
|
|
|
NM_001195263.2(PDZD7):c.2209C>A (p.Gln737Lys)
|
|
|
NM_001195263.2(PDZD7):c.2209_2211delinsAA (p.Gln737fs)
|
|
|
NM_001195263.2(PDZD7):c.2218C>A (p.Pro740Thr)
|
rs1179069732
|
|
NM_001195263.2(PDZD7):c.2218C>T (p.Pro740Ser)
|
rs1179069732
|
|
NM_001195263.2(PDZD7):c.2220C>G (p.Pro740=)
|
|
|
NM_001195263.2(PDZD7):c.2220C>T (p.Pro740=)
|
rs996703598
|
|
NM_001195263.2(PDZD7):c.2220del (p.Val741fs)
|
rs1211492964
|
|
NM_001195263.2(PDZD7):c.2224G>A (p.Ala742Thr)
|
|
|
NM_001195263.2(PDZD7):c.222C>G (p.Ile74Met)
|
rs2134156639
|
|
NM_001195263.2(PDZD7):c.2230C>T (p.Arg744Trp)
|
rs565952913
|
|
NM_001195263.2(PDZD7):c.2236C>T (p.Leu746=)
|
|
|
NM_001195263.2(PDZD7):c.2239C>T (p.Arg747Trp)
|
rs1329708693
|
|
NM_001195263.2(PDZD7):c.2240G>A (p.Arg747Gln)
|
rs1753001796
|
|
NM_001195263.2(PDZD7):c.2246A>C (p.Asn749Thr)
|
|
|
NM_001195263.2(PDZD7):c.2246A>T (p.Asn749Ile)
|
rs2133999493
|
|
NM_001195263.2(PDZD7):c.2248T>C (p.Trp750Arg)
|
|
|
NM_001195263.2(PDZD7):c.224A>T (p.Glu75Val)
|
rs1554837854
|
|
NM_001195263.2(PDZD7):c.2259A>C (p.Thr753=)
|
|
|
NM_001195263.2(PDZD7):c.2267T>C (p.Leu756Pro)
|
|
|
NM_001195263.2(PDZD7):c.227-13C>G
|
|
|
NM_001195263.2(PDZD7):c.227-14C>A
|
rs2134106290
|
|
NM_001195263.2(PDZD7):c.227-20C>G
|
rs934983198
|
|
NM_001195263.2(PDZD7):c.2283T>A (p.Pro761=)
|
|
|
NM_001195263.2(PDZD7):c.22G>A (p.Gly8Ser)
|
rs762203387
|
|
NM_001195263.2(PDZD7):c.2305C>T (p.Arg769Trp)
|
|
|
NM_001195263.2(PDZD7):c.2318_2319insCAGCCGCAGCCG (p.773RS[8])
|
rs754898220
|
|
NM_001195263.2(PDZD7):c.2318_2319inv (p.Arg773His)
|
|
|
NM_001195263.2(PDZD7):c.2319TAGCCGCAGCCG[1] (p.773RS[4])
|
rs762000985
|
|
NM_001195263.2(PDZD7):c.2319TAGCCGCAGCCG[3] (p.773RS[8])
|
rs762000985
|
|
NM_001195263.2(PDZD7):c.2319_2324del (p.773RS[5])
|
|
|
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3])
|
rs397516634
|
|
NM_001195263.2(PDZD7):c.2319_2342del (p.773RS[2])
|
rs762000985
|
|
NM_001195263.2(PDZD7):c.2323C>T (p.Arg775Cys)
|
rs2133999099
|
|
NM_001195263.2(PDZD7):c.2324G>A (p.Arg775His)
|
|
|
NM_001195263.2(PDZD7):c.2325C>T (p.Arg775=)
|
|
|
NM_001195263.2(PDZD7):c.2325_2330dup (p.773RS[7])
|
rs1491136099
|
|
NM_001195263.2(PDZD7):c.2328C>A (p.Ser776Arg)
|
rs976535352
|
|
NM_001195263.2(PDZD7):c.2331T>G (p.Arg777=)
|
|
|
NM_001195263.2(PDZD7):c.2331_2336del (p.773RS[5])
|
rs767463146
|
|
NM_001195263.2(PDZD7):c.2331_2348del (p.773_774RS[3])
|
rs727503369
|
|
NM_001195263.2(PDZD7):c.2331_2348dup (p.773_774RS[9])
|
rs727503369
|
|
NM_001195263.2(PDZD7):c.2332_2352AGCCGC[4]AGCCGTAGCCGCAGCCGCAGCCGCAGCCGCAGC[1] (p.773RS[12])
|
rs200896335
|
|
NM_001195263.2(PDZD7):c.2334_2335insTGCAGC (p.Ser778_Arg779insCysSer)
|
rs1403495039
|
|
NM_001195263.2(PDZD7):c.2335CGCAGC[1] (p.773RS[4])
|
rs200896335
|
|
NM_001195263.2(PDZD7):c.2335CGCAGC[2] (p.773RS[5])
|
rs200896335
|
|
NM_001195263.2(PDZD7):c.2335CGCAGC[4] (p.773RS[7])
|
rs200896335
|
|
NM_001195263.2(PDZD7):c.2335CGCAGC[5] (p.773RS[8])
|
rs200896335
|
|
NM_001195263.2(PDZD7):c.2335CGCAGC[6] (p.773RS[9])
|
rs200896335
|
|
NM_001195263.2(PDZD7):c.2336_2337insTAGCCGCAGCCG (p.773RS[8])
|
rs1554833282
|
|
NM_001195263.2(PDZD7):c.2342_2343insTAGCCGCAGCCGCAGCCG (p.Ser784_Ser785insArgSerArgSerArgSer)
|
|
|
NM_001195263.2(PDZD7):c.2344_2355dup (p.Ser782_Ser785dup)
|
rs1162719674
|
|
NM_001195263.2(PDZD7):c.2346_2357dup (p.Arg783_Arg786dup)
|
rs763555201
|
|
NM_001195263.2(PDZD7):c.2348_2349insTAGCCGCAGCCGCAGCCGCAGCCG (p.Ser784_Ser785insArgSerArgSerArgSerArgSer)
|
|
|
NM_001195263.2(PDZD7):c.2353A>C (p.Ser785Arg)
|
rs1852358426
|
|
NM_001195263.2(PDZD7):c.2354G>A (p.Ser785Asn)
|
rs2133998543
|
|
NM_001195263.2(PDZD7):c.2387C>A (p.Ser796Tyr)
|
|
|
NM_001195263.2(PDZD7):c.2394C>T (p.Ser798=)
|
|
|
NM_001195263.2(PDZD7):c.2396C>T (p.Pro799Leu)
|
rs765565547
|
|
NM_001195263.2(PDZD7):c.23G>A (p.Gly8Asp)
|
|
|
NM_001195263.2(PDZD7):c.2400G>A (p.Val800=)
|
|
|
NM_001195263.2(PDZD7):c.2415del (p.Ser806fs)
|
|
|
NM_001195263.2(PDZD7):c.2421G>A (p.Met807Ile)
|
rs2133998209
|
|
NM_001195263.2(PDZD7):c.2426A>G (p.Asn809Ser)
|
|
|
NM_001195263.2(PDZD7):c.2431C>G (p.Arg811Gly)
|
|
|
NM_001195263.2(PDZD7):c.2432G>A (p.Arg811His)
|
rs1852354254
|
|
NM_001195263.2(PDZD7):c.2436C>T (p.Tyr812=)
|
|
|
NM_001195263.2(PDZD7):c.2440A>T (p.Lys814Ter)
|
rs1852354094
|
|
NM_001195263.2(PDZD7):c.2452G>T (p.Ala818Ser)
|
rs1375910625
|
|
NM_001195263.2(PDZD7):c.2456G>C (p.Arg819Thr)
|
|
|
NM_001195263.2(PDZD7):c.2459C>A (p.Pro820His)
|
rs1365350808
|
|
NM_001195263.2(PDZD7):c.2459C>G (p.Pro820Arg)
|
|
|
NM_001195263.2(PDZD7):c.2460C>A (p.Pro820=)
|
|
|
NM_001195263.2(PDZD7):c.2460C>G (p.Pro820=)
|
rs1355095137
|
|
NM_001195263.2(PDZD7):c.2460C>T (p.Pro820=)
|
rs1355095137
|
|
NM_001195263.2(PDZD7):c.2462del (p.Pro821fs)
|
rs2133998053
|
|
NM_001195263.2(PDZD7):c.2473C>T (p.Pro825Ser)
|
|
|
NM_001195263.2(PDZD7):c.2480A>G (p.Asp827Gly)
|
|
|
NM_001195263.2(PDZD7):c.2480A>T (p.Asp827Val)
|
|
|
NM_001195263.2(PDZD7):c.2495_2557dup (p.Ala852_Met853insLysValGlyAlaLysGlnGlyProSerGluSerGlyThrGluGlyThrAlaLysGluAlaAla)
|
|
|
NM_001195263.2(PDZD7):c.24C>T (p.Gly8=)
|
|
|
NM_001195263.2(PDZD7):c.2502G>A (p.Gly834=)
|
rs1381388935
|
|
NM_001195263.2(PDZD7):c.250_251insC (p.Ile84fs)
|
|
|
NM_001195263.2(PDZD7):c.2517C>T (p.Pro839=)
|
|
|
NM_001195263.2(PDZD7):c.251T>C (p.Ile84Thr)
|
rs773193491
|
|
NM_001195263.2(PDZD7):c.2526T>A (p.Ser842Arg)
|
rs1852351873
|
|
NM_001195263.2(PDZD7):c.2551G>A (p.Ala851Thr)
|
rs1424828949
|
|
NM_001195263.2(PDZD7):c.2568dup (p.Ser857fs)
|
rs1465567484
|
|
NM_001195263.2(PDZD7):c.2584A>G (p.Thr862Ala)
|
|
|
NM_001195263.2(PDZD7):c.2586A>G (p.Thr862=)
|
rs1430686128
|
|
NM_001195263.2(PDZD7):c.2589G>C (p.Val863=)
|
|
|
NM_001195263.2(PDZD7):c.2591C>T (p.Thr864Ile)
|
|
|
NM_001195263.2(PDZD7):c.2617+11G>A
|
|
|
NM_001195263.2(PDZD7):c.2617+11G>T
|
rs1382819438
|
|
NM_001195263.2(PDZD7):c.2618-10_2618-9del
|
|
|
NM_001195263.2(PDZD7):c.2618-12_2618-9del
|
|
|
NM_001195263.2(PDZD7):c.2618-17T>C
|
|
|
NM_001195263.2(PDZD7):c.2618-5A>G
|
|
|
NM_001195263.2(PDZD7):c.2618-6_2619del
|
rs2133994584
|
|
NM_001195263.2(PDZD7):c.2620A>G (p.Ile874Val)
|
|
|
NM_001195263.2(PDZD7):c.2624G>C (p.Ser875Thr)
|
rs2133994567
|
|
NM_001195263.2(PDZD7):c.263G>A (p.Arg88Gln)
|
|
|
NM_001195263.2(PDZD7):c.2650G>A (p.Val884Met)
|
|
|
NM_001195263.2(PDZD7):c.2672AGA[1] (p.Lys892del)
|
rs397516636
|
|
NM_001195263.2(PDZD7):c.2687G>C (p.Gly896Ala)
|
|
|
NM_001195263.2(PDZD7):c.2691G>A (p.Gly897=)
|
rs552903376
|
|
NM_001195263.2(PDZD7):c.2691G>C (p.Gly897=)
|
rs552903376
|
|
NM_001195263.2(PDZD7):c.2692dup (p.Ala898fs)
|
rs1177831852
|
|
NM_001195263.2(PDZD7):c.2694C>A (p.Ala898=)
|
|
|
NM_001195263.2(PDZD7):c.2696C>T (p.Ala899Val)
|
|
|
NM_001195263.2(PDZD7):c.2705G>A (p.Ser902Asn)
|
rs2133994303
|
|
NM_001195263.2(PDZD7):c.2713C>G (p.Leu905Val)
|
|
|
NM_001195263.2(PDZD7):c.2713del (p.Leu905fs)
|
|
|
NM_001195263.2(PDZD7):c.2718+10G>A
|
rs1298179593
|
|
NM_001195263.2(PDZD7):c.2718+19G>T
|
|
|
NM_001195263.2(PDZD7):c.2718+20G>A
|
|
|
NM_001195263.2(PDZD7):c.2718+9A>G
|
rs1852313425
|
|
NM_001195263.2(PDZD7):c.2719-10C>T
|
|
|
NM_001195263.2(PDZD7):c.2719-16_2719-13del
|
rs748764184
|
|
NM_001195263.2(PDZD7):c.2719-4C>G
|
rs2133993175
|
|
NM_001195263.2(PDZD7):c.2725T>C (p.Phe909Leu)
|
rs2133993165
|
|
NM_001195263.2(PDZD7):c.2728G>A (p.Glu910Lys)
|
|
|
NM_001195263.2(PDZD7):c.2746G>C (p.Gly916Arg)
|
rs1052443941
|
|
NM_001195263.2(PDZD7):c.2751G>A (p.Glu917=)
|
rs181530387
|
|
NM_001195263.2(PDZD7):c.2751_2752del (p.Asn918fs)
|
|
|
NM_001195263.2(PDZD7):c.275G>A (p.Ser92Asn)
|
|
|
NM_001195263.2(PDZD7):c.2762A>G (p.Gln921Arg)
|
rs2133992998
|
|
NM_001195263.2(PDZD7):c.2767A>G (p.Thr923Ala)
|
|
|
NM_001195263.2(PDZD7):c.2772C>A (p.His924Gln)
|
|
|
NM_001195263.2(PDZD7):c.2776C>T (p.Arg926Cys)
|
rs892735909
|
|
NM_001195263.2(PDZD7):c.2789C>A (p.Thr930Asn)
|
rs1852298416
|
|
NM_001195263.2(PDZD7):c.278C>T (p.Pro93Leu)
|
rs757518712
|
|
NM_001195263.2(PDZD7):c.2794_2806del (p.Arg932fs)
|
|
|
NM_001195263.2(PDZD7):c.2796_2798del (p.Arg933del)
|
rs770336804
|
|
NM_001195263.2(PDZD7):c.2798G>C (p.Arg933Pro)
|
rs574483811
|
|
NM_001195263.2(PDZD7):c.2806C>G (p.Arg936Gly)
|
|
|
NM_001195263.2(PDZD7):c.2806C>T (p.Arg936Ter)
|
rs746485256
|
|
NM_001195263.2(PDZD7):c.2807G>A (p.Arg936Gln)
|
|
|
NM_001195263.2(PDZD7):c.2814G>A (p.Lys938=)
|
|
|
NM_001195263.2(PDZD7):c.2818C>T (p.Arg940Trp)
|
|
|
NM_001195263.2(PDZD7):c.2827A>G (p.Met943Val)
|
|
|
NM_001195263.2(PDZD7):c.2832G>A (p.Glu944=)
|
rs960605562
|
|
NM_001195263.2(PDZD7):c.2841C>T (p.Val947=)
|
rs2133992649
|
|
NM_001195263.2(PDZD7):c.2843G>C (p.Arg948Thr)
|
rs1318559327
|
|
NM_001195263.2(PDZD7):c.2846T>A (p.Val949Asp)
|
rs2133992631
|
|
NM_001195263.2(PDZD7):c.2847C>T (p.Val949=)
|
|
|
NM_001195263.2(PDZD7):c.2850C>T (p.Pro950=)
|
rs1234005159
|
|
NM_001195263.2(PDZD7):c.2850del (p.Ser953fs)
|
rs1025144704
|
|
NM_001195263.2(PDZD7):c.2853G>A (p.Gly951=)
|
rs1338644706
|
|
NM_001195263.2(PDZD7):c.2853dup (p.Pro952fs)
|
rs2133992594
|
|
NM_001195263.2(PDZD7):c.2862A>G (p.Pro954=)
|
|
|
NM_001195263.2(PDZD7):c.2864G>A (p.Arg955Gln)
|
|
|
NM_001195263.2(PDZD7):c.2868C>G (p.Pro956=)
|
|
|
NM_001195263.2(PDZD7):c.287G>T (p.Arg96Met)
|
rs758884514
|
|
NM_001195263.2(PDZD7):c.2888C>G (p.Ala963Gly)
|
|
|
NM_001195263.2(PDZD7):c.2889C>T (p.Ala963=)
|
|
|
NM_001195263.2(PDZD7):c.2890C>G (p.Leu964Val)
|
rs777278451
|
|
NM_001195263.2(PDZD7):c.2892T>A (p.Leu964=)
|
|
|
NM_001195263.2(PDZD7):c.2895T>C (p.Thr965=)
|
|
|
NM_001195263.2(PDZD7):c.28G>A (p.Asp10Asn)
|
|
|
NM_001195263.2(PDZD7):c.2900G>C (p.Gly967Ala)
|
|
|
NM_001195263.2(PDZD7):c.2902G>T (p.Gly968Cys)
|
rs2133992409
|
|
NM_001195263.2(PDZD7):c.2904C>A (p.Gly968=)
|
rs1000893896
|
|
NM_001195263.2(PDZD7):c.2916C>T (p.Asp972=)
|
rs2133992342
|
|
NM_001195263.2(PDZD7):c.2928_2945del (p.His977_Ala982del)
|
|
|
NM_001195263.2(PDZD7):c.293G>T (p.Gly98Val)
|
rs1399742524
|
|
NM_001195263.2(PDZD7):c.2946T>C (p.Ala982=)
|
|
|
NM_001195263.2(PDZD7):c.2964C>T (p.His988=)
|
|
|
NM_001195263.2(PDZD7):c.2968C>T (p.Leu990Phe)
|
|
|
NM_001195263.2(PDZD7):c.297_304dup (p.Arg102fs)
|
|
|
NM_001195263.2(PDZD7):c.2991C>A (p.Pro997=)
|
|
|
NM_001195263.2(PDZD7):c.2992_2993del (p.Gln998fs)
|
|
|
NM_001195263.2(PDZD7):c.2998C>G (p.Pro1000Ala)
|
rs1208693784
|
|
NM_001195263.2(PDZD7):c.3003_3022del (p.Thr1002fs)
|
rs985384772
|
|
NM_001195263.2(PDZD7):c.3014_3015insACTCCTCCCTCTGATGCCAG (p.Gln1008fs)
|
rs1564821241
|
|
NM_001195263.2(PDZD7):c.3015G>C (p.Arg1005Ser)
|
rs890671396
|
|
NM_001195263.2(PDZD7):c.3021C>T (p.Leu1007=)
|
|
|
NM_001195263.2(PDZD7):c.3024G>A (p.Gln1008=)
|
|
|
NM_001195263.2(PDZD7):c.3026del (p.Pro1009fs)
|
|
|
NM_001195263.2(PDZD7):c.3030T>G (p.Thr1010=)
|
rs2133991975
|
|
NM_001195263.2(PDZD7):c.3043C>T (p.Pro1015Ser)
|
|
|
NM_001195263.2(PDZD7):c.3045C>T (p.Pro1015=)
|
|
|
NM_001195263.2(PDZD7):c.3045del (p.Ser1016fs)
|
rs1852289551
|
|
NM_001195263.2(PDZD7):c.3059_3062del (p.Gln1020fs)
|
rs2133991857
|
|
NM_001195263.2(PDZD7):c.3062C>T (p.Thr1021Ile)
|
|
|
NM_001195263.2(PDZD7):c.3067_3072del (p.Asp1023_Ser1024del)
|
rs962387635
|
|
NM_001195263.2(PDZD7):c.3073A>G (p.Lys1025Glu)
|
rs772312008
|
|
NM_001195263.2(PDZD7):c.307G>A (p.Gly103Arg)
|
|
|
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg)
|
rs148695069
|
|
NM_001195263.2(PDZD7):c.3083C>A (p.Pro1028His)
|
|
|
NM_001195263.2(PDZD7):c.3097C>T (p.Pro1033Ser)
|
|
|
NM_001195263.2(PDZD7):c.3098C>T (p.Pro1033Leu)
|
rs1852287724
|
|
NM_001195263.2(PDZD7):c.312C>A (p.Gly104=)
|
|
|
NM_001195263.2(PDZD7):c.312C>G (p.Gly104=)
|
rs775293957
|
|
NM_001195263.2(PDZD7):c.313T>G (p.Ser105Ala)
|
rs1268326679
|
|
NM_001195263.2(PDZD7):c.323G>T (p.Gly108Val)
|
rs1276376429
|
|
NM_001195263.2(PDZD7):c.333C>T (p.Ile111=)
|
rs770417426
|
|
NM_001195263.2(PDZD7):c.349G>A (p.Glu117Lys)
|
rs2134104386
|
|
NM_001195263.2(PDZD7):c.363T>C (p.Ser121=)
|
rs557126080
|
|
NM_001195263.2(PDZD7):c.370C>A (p.Arg124=)
|
rs114917863
|
|
NM_001195263.2(PDZD7):c.381G>C (p.Leu127=)
|
|
|
NM_001195263.2(PDZD7):c.385G>A (p.Val129Met)
|
|
|
NM_001195263.2(PDZD7):c.385G>T (p.Val129Leu)
|
|
|
NM_001195263.2(PDZD7):c.393C>A (p.Asp131Glu)
|
rs2134101028
|
|
NM_001195263.2(PDZD7):c.39C>A (p.Gly13=)
|
rs1590081374
|
|
NM_001195263.2(PDZD7):c.402G>A (p.Thr134=)
|
|
|
NM_001195263.2(PDZD7):c.419G>A (p.Ser140Asn)
|
rs1590069215
|
|
NM_001195263.2(PDZD7):c.432C>T (p.Thr144=)
|
|
|
NM_001195263.2(PDZD7):c.432del (p.Thr145fs)
|
rs2134100484
|
|
NM_001195263.2(PDZD7):c.439G>A (p.Gly147Ser)
|
|
|
NM_001195263.2(PDZD7):c.440G>A (p.Gly147Asp)
|
rs1853249107
|
|
NM_001195263.2(PDZD7):c.440_454del (p.Gly147_Lys151del)
|
rs2134099940
|
|
NM_001195263.2(PDZD7):c.445G>A (p.Ala149Thr)
|
rs767110888
|
|
NM_001195263.2(PDZD7):c.450A>G (p.Val150=)
|
|
|
NM_001195263.2(PDZD7):c.473G>A (p.Arg158His)
|
|
|
NM_001195263.2(PDZD7):c.481A>G (p.Met161Val)
|
rs372777810
|
|
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp)
|
rs200664140
|
|
NM_001195263.2(PDZD7):c.494G>A (p.Arg165His)
|
rs149282897
|
|
NM_001195263.2(PDZD7):c.494G>T (p.Arg165Leu)
|
rs149282897
|
|
NM_001195263.2(PDZD7):c.502C>T (p.Arg168Cys)
|
rs1054390142
|
|
NM_001195263.2(PDZD7):c.503G>A (p.Arg168His)
|
|
|
NM_001195263.2(PDZD7):c.510G>A (p.Pro170=)
|
rs368769051
|
|
NM_001195263.2(PDZD7):c.517A>C (p.Lys173Gln)
|
rs1853241518
|
|
NM_001195263.2(PDZD7):c.528G>A (p.Lys176=)
|
rs935892074
|
|
NM_001195263.2(PDZD7):c.529G>A (p.Glu177Lys)
|
|
|
NM_001195263.2(PDZD7):c.536C>T (p.Thr179Ile)
|
|
|
NM_001195263.2(PDZD7):c.540G>A (p.Thr180=)
|
|
|
NM_001195263.2(PDZD7):c.543-14del
|
rs745476626
|
|
NM_001195263.2(PDZD7):c.543-17C>G
|
rs761195599
|
|
NM_001195263.2(PDZD7):c.543-18C>G
|
|
|
NM_001195263.2(PDZD7):c.543-212del
|
rs1315085387
|
|
NM_001195263.2(PDZD7):c.547G>A (p.Asp183Asn)
|
rs991026624
|
|
NM_001195263.2(PDZD7):c.562C>T (p.Arg188Cys)
|
rs368583838
|
|
NM_001195263.2(PDZD7):c.565C>T (p.Leu189=)
|
|
|
NM_001195263.2(PDZD7):c.574G>A (p.Glu192Lys)
|
rs2134089915
|
|
NM_001195263.2(PDZD7):c.57C>T (p.Ser19=)
|
|
|
NM_001195263.2(PDZD7):c.582C>A (p.Cys194Ter)
|
|
|
NM_001195263.2(PDZD7):c.583G>A (p.Gly195Ser)
|
|
|
NM_001195263.2(PDZD7):c.583G>C (p.Gly195Arg)
|
rs146641918
|
|
NM_001195263.2(PDZD7):c.58G>T (p.Gly20Cys)
|
rs751360598
|
|
NM_001195263.2(PDZD7):c.598G>A (p.Asp200Asn)
|
rs145910584
|
|
NM_001195263.2(PDZD7):c.59G>A (p.Gly20Asp)
|
rs757934531
|
|
NM_001195263.2(PDZD7):c.5C>A (p.Ala2Glu)
|
rs752103163
|
|
NM_001195263.2(PDZD7):c.606C>T (p.Ser202=)
|
|
|
NM_001195263.2(PDZD7):c.607T>A (p.Ser203Thr)
|
rs2134089399
|
|
NM_001195263.2(PDZD7):c.60C>G (p.Gly20=)
|
rs968096580
|
|
NM_001195263.2(PDZD7):c.615T>C (p.Asp205=)
|
|
|
NM_001195263.2(PDZD7):c.621C>G (p.Val207=)
|
rs2134089282
|
|
NM_001195263.2(PDZD7):c.623G>A (p.Arg208Gln)
|
rs201804536
|
|
NM_001195263.2(PDZD7):c.623G>T (p.Arg208Leu)
|
rs201804536
|
|
NM_001195263.2(PDZD7):c.625C>T (p.Arg209Cys)
|
|
|
NM_001195263.2(PDZD7):c.626G>C (p.Arg209Pro)
|
rs1018597313
|
|
NM_001195263.2(PDZD7):c.630C>A (p.Ile210=)
|
rs146801433
|
|
NM_001195263.2(PDZD7):c.633C>T (p.Val211=)
|
|
|
NM_001195263.2(PDZD7):c.649del (p.Ser217fs)
|
rs756992205
|
|
NM_001195263.2(PDZD7):c.652G>T (p.Asp218Tyr)
|
rs142301501
|
|
NM_001195263.2(PDZD7):c.658T>G (p.Phe220Val)
|
rs1853153513
|
|
NM_001195263.2(PDZD7):c.660C>T (p.Phe220=)
|
rs2134088607
|
|
NM_001195263.2(PDZD7):c.665T>G (p.Leu222Arg)
|
rs2134088582
|
|
NM_001195263.2(PDZD7):c.668del (p.Gly223fs)
|
|
|
NM_001195263.2(PDZD7):c.672C>T (p.Phe224=)
|
rs1206504105
|
|
NM_001195263.2(PDZD7):c.680G>A (p.Arg227His)
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rs200730376
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NM_001195263.2(PDZD7):c.680G>T (p.Arg227Leu)
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NM_001195263.2(PDZD7):c.68G>A (p.Ser23Asn)
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rs905817065
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NM_001195263.2(PDZD7):c.6G>T (p.Ala2=)
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NM_001195263.2(PDZD7):c.71C>T (p.Ser24Phe)
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NM_001195263.2(PDZD7):c.720-17C>A
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rs199819658
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NM_001195263.2(PDZD7):c.720-5C>T
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NM_001195263.2(PDZD7):c.727C>A (p.His243Asn)
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rs561472174
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NM_001195263.2(PDZD7):c.732T>G (p.Gly244=)
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rs778472334
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NM_001195263.2(PDZD7):c.736C>T (p.Leu246=)
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NM_001195263.2(PDZD7):c.741C>A (p.Ala247=)
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rs113256591
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NM_001195263.2(PDZD7):c.757A>T (p.Lys253Ter)
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NM_001195263.2(PDZD7):c.763G>A (p.Gly255Arg)
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rs1853127598
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NM_001195263.2(PDZD7):c.768C>T (p.Asp256=)
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rs1310439158
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NM_001195263.2(PDZD7):c.769C>A (p.Gln257Lys)
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rs201285908
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NM_001195263.2(PDZD7):c.773T>A (p.Val258Asp)
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rs1853126480
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NM_001195263.2(PDZD7):c.780A>G (p.Ala260=)
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rs2134084887
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NM_001195263.2(PDZD7):c.785A>G (p.Asn262Ser)
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NM_001195263.2(PDZD7):c.790G>A (p.Val264Ile)
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rs1249336656
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NM_001195263.2(PDZD7):c.806T>G (p.Ile269Ser)
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NM_001195263.2(PDZD7):c.822C>T (p.Ala274=)
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NM_001195263.2(PDZD7):c.825G>A (p.Val275=)
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rs1853121330
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NM_001195263.2(PDZD7):c.82del (p.Arg28fs)
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NM_001195263.2(PDZD7):c.834G>T (p.Leu278=)
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rs1026883817
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NM_001195263.2(PDZD7):c.846G>A (p.Thr282=)
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NM_001195263.2(PDZD7):c.851T>A (p.Ile284Asn)
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NM_001195263.2(PDZD7):c.853A>G (p.Met285Val)
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NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg)
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rs1554835827
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NM_001195263.2(PDZD7):c.867+17G>A
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NM_001195263.2(PDZD7):c.867+19G>A
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rs1189362913
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NM_001195263.2(PDZD7):c.867+19G>T
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NM_001195263.2(PDZD7):c.868-16A>C
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NM_001195263.2(PDZD7):c.868-4C>G
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NM_001195263.2(PDZD7):c.868-5C>A
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rs1853036900
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NM_001195263.2(PDZD7):c.873C>A (p.Thr291=)
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rs752366856
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NM_001195263.2(PDZD7):c.873C>T (p.Thr291=)
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NM_001195263.2(PDZD7):c.875G>A (p.Gly292Asp)
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NM_001195263.2(PDZD7):c.880T>C (p.Tyr294His)
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NM_001195263.2(PDZD7):c.883C>T (p.Pro295Ser)
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NM_001195263.2(PDZD7):c.887C>T (p.Ala296Val)
|
rs2134074581
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NM_001195263.2(PDZD7):c.890A>T (p.Tyr297Phe)
|
rs1165016266
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NM_001195263.2(PDZD7):c.891C>T (p.Tyr297=)
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NM_001195263.2(PDZD7):c.893A>G (p.Lys298Arg)
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rs1564636130
|
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NM_001195263.2(PDZD7):c.90C>G (p.His30Gln)
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|
|
NM_001195263.2(PDZD7):c.918dup (p.Leu307fs)
|
rs2134074165
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NM_001195263.2(PDZD7):c.920T>C (p.Leu307Pro)
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NM_001195263.2(PDZD7):c.925C>T (p.Arg309Ter)
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|
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NM_001195263.2(PDZD7):c.926G>A (p.Arg309Gln)
|
rs528381893
|
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NM_001195263.2(PDZD7):c.926G>C (p.Arg309Pro)
|
rs528381893
|
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NM_001195263.2(PDZD7):c.928+14A>T
|
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NM_001195263.2(PDZD7):c.928+20C>G
|
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NM_001195263.2(PDZD7):c.928+20del
|
rs77484072
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NM_001195263.2(PDZD7):c.928+21A>T
|
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NM_001195263.2(PDZD7):c.929-8C>T
|
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NM_001195263.2(PDZD7):c.92T>C (p.Leu31Pro)
|
rs1366770769
|
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NM_001195263.2(PDZD7):c.930G>A (p.Leu310=)
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NM_001195263.2(PDZD7):c.930_949dup (p.Gln317fs)
|
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NM_001195263.2(PDZD7):c.952C>T (p.Leu318=)
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NM_001195263.2(PDZD7):c.954G>A (p.Leu318=)
|
rs1852906869
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NM_001195263.2(PDZD7):c.961G>A (p.Ala321Thr)
|
|
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NM_001195263.2(PDZD7):c.963C>G (p.Ala321=)
|
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NM_001195263.2(PDZD7):c.963C>T (p.Ala321=)
|
rs932953368
|
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NM_001195263.2(PDZD7):c.969G>A (p.Glu323=)
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NM_001195263.2(PDZD7):c.979A>G (p.Ser327Gly)
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NM_001195263.2(PDZD7):c.983_1003dup (p.Ser334_Ala335insValSerSerCysAlaSerSer)
|
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NM_001195263.2(PDZD7):c.993C>A (p.Cys331Ter)
|
rs1468599549
|
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