ClinVar Miner

List of variants in gene PDZD7

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Gene type:
ClinVar version:
Total variants: 972
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HGVS dbSNP gnomAD frequency
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) rs200730376
NM_001195263.2(PDZD7):c.680G>T (p.Arg227Leu)
NM_001195263.2(PDZD7):c.68G>A (p.Ser23Asn) rs905817065
NM_001195263.2(PDZD7):c.6G>T (p.Ala2=)
NM_001195263.2(PDZD7):c.71C>T (p.Ser24Phe)
NM_001195263.2(PDZD7):c.720-17C>A rs199819658
NM_001195263.2(PDZD7):c.720-5C>T
NM_001195263.2(PDZD7):c.727C>A (p.His243Asn) rs561472174
NM_001195263.2(PDZD7):c.732T>G (p.Gly244=) rs778472334
NM_001195263.2(PDZD7):c.736C>T (p.Leu246=)
NM_001195263.2(PDZD7):c.741C>A (p.Ala247=) rs113256591
NM_001195263.2(PDZD7):c.757A>T (p.Lys253Ter)
NM_001195263.2(PDZD7):c.763G>A (p.Gly255Arg) rs1853127598
NM_001195263.2(PDZD7):c.768C>T (p.Asp256=) rs1310439158
NM_001195263.2(PDZD7):c.769C>A (p.Gln257Lys) rs201285908
NM_001195263.2(PDZD7):c.773T>A (p.Val258Asp) rs1853126480
NM_001195263.2(PDZD7):c.780A>G (p.Ala260=) rs2134084887
NM_001195263.2(PDZD7):c.785A>G (p.Asn262Ser)
NM_001195263.2(PDZD7):c.790G>A (p.Val264Ile) rs1249336656
NM_001195263.2(PDZD7):c.806T>G (p.Ile269Ser)
NM_001195263.2(PDZD7):c.822C>T (p.Ala274=)
NM_001195263.2(PDZD7):c.825G>A (p.Val275=) rs1853121330
NM_001195263.2(PDZD7):c.82del (p.Arg28fs)
NM_001195263.2(PDZD7):c.834G>T (p.Leu278=) rs1026883817
NM_001195263.2(PDZD7):c.846G>A (p.Thr282=)
NM_001195263.2(PDZD7):c.851T>A (p.Ile284Asn)
NM_001195263.2(PDZD7):c.853A>G (p.Met285Val)
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg) rs1554835827
NM_001195263.2(PDZD7):c.867+17G>A
NM_001195263.2(PDZD7):c.867+19G>A rs1189362913
NM_001195263.2(PDZD7):c.867+19G>T
NM_001195263.2(PDZD7):c.868-16A>C
NM_001195263.2(PDZD7):c.868-4C>G
NM_001195263.2(PDZD7):c.868-5C>A rs1853036900
NM_001195263.2(PDZD7):c.873C>A (p.Thr291=) rs752366856
NM_001195263.2(PDZD7):c.873C>T (p.Thr291=)
NM_001195263.2(PDZD7):c.875G>A (p.Gly292Asp)
NM_001195263.2(PDZD7):c.880T>C (p.Tyr294His)
NM_001195263.2(PDZD7):c.883C>T (p.Pro295Ser)
NM_001195263.2(PDZD7):c.887C>T (p.Ala296Val) rs2134074581
NM_001195263.2(PDZD7):c.890A>T (p.Tyr297Phe) rs1165016266
NM_001195263.2(PDZD7):c.891C>T (p.Tyr297=)
NM_001195263.2(PDZD7):c.893A>G (p.Lys298Arg) rs1564636130
NM_001195263.2(PDZD7):c.90C>G (p.His30Gln)
NM_001195263.2(PDZD7):c.918dup (p.Leu307fs) rs2134074165
NM_001195263.2(PDZD7):c.920T>C (p.Leu307Pro)
NM_001195263.2(PDZD7):c.925C>T (p.Arg309Ter)
NM_001195263.2(PDZD7):c.926G>A (p.Arg309Gln) rs528381893
NM_001195263.2(PDZD7):c.926G>C (p.Arg309Pro) rs528381893
NM_001195263.2(PDZD7):c.928+14A>T
NM_001195263.2(PDZD7):c.928+20C>G
NM_001195263.2(PDZD7):c.928+20del rs77484072
NM_001195263.2(PDZD7):c.928+21A>T
NM_001195263.2(PDZD7):c.929-8C>T
NM_001195263.2(PDZD7):c.92T>C (p.Leu31Pro) rs1366770769
NM_001195263.2(PDZD7):c.930G>A (p.Leu310=)
NM_001195263.2(PDZD7):c.930_949dup (p.Gln317fs)
NM_001195263.2(PDZD7):c.952C>T (p.Leu318=)
NM_001195263.2(PDZD7):c.954G>A (p.Leu318=) rs1852906869
NM_001195263.2(PDZD7):c.961G>A (p.Ala321Thr)
NM_001195263.2(PDZD7):c.963C>G (p.Ala321=)
NM_001195263.2(PDZD7):c.963C>T (p.Ala321=) rs932953368
NM_001195263.2(PDZD7):c.969G>A (p.Glu323=)
NM_001195263.2(PDZD7):c.979A>G (p.Ser327Gly)
NM_001195263.2(PDZD7):c.983_1003dup (p.Ser334_Ala335insValSerSerCysAlaSerSer)
NM_001195263.2(PDZD7):c.993C>A (p.Cys331Ter) rs1468599549

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